/*
 Navicat Premium Data Transfer

 Source Server         : ChimeraDBV3.2
 Source Server Type    : MySQL
 Source Server Version : 50528
 Source Host           : sysbio2.ewha.ac.kr
 Source Database       : ChimerDB3

 Target Server Type    : MySQL
 Target Server Version : 50528
 File Encoding         : utf-8

 Date: 10/10/2016 09:26:55 AM
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-- ----------------------------
--  Table structure for `ChimerPub_dump`
-- ----------------------------
CREATE TABLE `ChimerPub_dump` (
  `id` int(11) NOT NULL AUTO_INCREMENT,
  `Fusion_pair` varchar(201) DEFAULT NULL,
  `Translocation` text,
  `H_gene` varchar(100) DEFAULT NULL,
  `T_gene` varchar(100) DEFAULT NULL,
  `PMID` varchar(50) DEFAULT NULL,
  `Score` varchar(50) DEFAULT NULL,
  `Disease` text,
  `Validation` varchar(100) DEFAULT NULL,
  `Kinase` varchar(50) DEFAULT NULL,
  `Oncogene` varchar(50) DEFAULT NULL,
  `Tumor_suppressor` varchar(50) DEFAULT NULL,
  `Receptor` varchar(50) DEFAULT NULL,
  `Transcription_Factor` varchar(50) DEFAULT NULL,
  `ChimerKB` varchar(3) CHARACTER SET utf8 DEFAULT '',
  `ChimerSeq` varchar(3) CHARACTER SET utf8 DEFAULT '',
  `Sentence_highlight` text,
  PRIMARY KEY (`id`)
) ENGINE=InnoDB AUTO_INCREMENT=11032 DEFAULT CHARSET=latin1;

-- ----------------------------
--  Records of `ChimerPub_dump`
-- ----------------------------
BEGIN;
INSERT INTO `ChimerPub_dump` VALUES ('1', 'NUP98_NSD1', 't(5;11) / t(11;19)(q23;p13) / t(5;11)  / del(5q)  / ', 'NUP98', 'NSD1', '11895789', '295', 'acute myeloid leukemia', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Breakpoint mapping by FISH and reverse transcriptase polymerase chain reaction (RT-PCR) analysis confirmed that this was the same t(5;11) as previously identified in 3 children with AML, associated with del(5q) and resulting in the NUP98-NSD1 gene fusion. '), ('2', 'TEL_AML1', 't(12;21)  / t(12;21) / del(12p)  / ', 'TEL', 'AML1', '8757516', '288', '', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Although chromosomal rearrangements associated with the t(12;21) were heterogenous and complex, fusion of the sequences from chromosomes 12 and 21 on the der(21)t(12;21) chromosomes was consistent, suggesting that the TEL-AML1 gene fusion on the der(21) chromosome may be critical in leukaemogenesis and that FISH or reverse transcriptase-polymerase chain reaction (RT-PCR) targeted to the chimaeric sequences on the der(21) will be most useful in detecting the t(12;21) or following a patient with the t(12;21), which is one of the most frequent chromosomal rearrangements in both Caucasian and Asian childhood ALL.. '), ('3', 'FLI1_EWSR1', 't(11;22)  / ', 'FLI1', 'EWSR1', '16944972', '286', 'ewing sarcoma;neuroectodermal tumor;neuroblastoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', 'Seq', 'Interphase and metaphase fluorescent in situ hybridization (FISH) studies performed on the pretreatment and posttreatment samples showed the presence of a t(11;22) rearrangement resulting in EWSR1/FLI1 gene fusion consistent with pPNET/EWS in both specimens. '), ('4', 'TEL_AML1', 't(12;21)(p13;q22) / t(12;21)  / t(12;21) / ', 'TEL', 'AML1', '8639909', '286', 'acute lymphoblastic leukemia;myeloid leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'In the present study, we have sought allelic deletions of TEL and the presence of the t(12;21) in 50 children with B-lineage ALL, using a combination of microsatellite typing, fluorescent in situ hybridization (FISH), and analysis of the fusion transcripts resulting from the TEL-AML1 gene fusion.     ///    \"The TEL-AML1 fusion RNA was found in all patients with the t(12;21) whereas the reciprocal AML1-TEL transcript was only found in a subset of patients, suggesting that only the protein product encoded by TEL-AML1 is likely to play a role in leukemogenesis. \"'), ('5', 'PDGFRB_ETV6', 't(5;12)(q31q33;p12) / t(5;12)  / t(5;12)(q33;p13) / ', 'PDGFRB', 'ETV6', '9057655', '282', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', 'Kinase', '', '', 'Receptor', '', 'KB', '', ' Translocation t(5;12)(q33;p13), resulting in an ETV6/PDGFRB gene fusion, is a recurrent chromosomal abnormality associated with chronic myelomonocytic leukemia (CMML). '), ('6', 'RPN1_EVI1', 'inv(3) / t(3;3) / inv(3)  / t(3;3)  / ', 'RPN1', 'EVI1', '20556821', '282', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', 'KB', '', 'Development of a dual-color, double fusion FISH assay to detect RPN1/EVI1 gene fusion associated with inv(3), t(3;3), and ins(3;3) in patients with myelodysplasia and acute myeloid leukemia..     ///    The unblinded results indicated abnormal RPN1/EVI1 fusion results in 30 (97%) of 31 samples from the inv(3)(q21q26.2) group including seven bone marrow samples for which chromosome analysis was unsuccessful or failed to detect an inv(3)(q21q26.2).     ///    \"The most recent World Health Organization (WHO) classification has designated AML with inv(3) or t(3;3) and associated RPN1/EVI1 fusion, as a distinct AML subgroup associated with an unfavorable prognosis. \"    ///    \"Overall, this D-FISH assay was more accurate than chromosome analysis and based on the normal cutoff of 0.6%, this assay can be used for minimal residual disease detection and disease monitoring in patients with RPN1/EVI1 fusion.. \"'), ('7', 'ETV6_AML1', 't(12;21)(p13;q22) / t(9;22)(q34;q11) / t(1;19)(q23;p13) / ', 'ETV6', 'AML1', '11030043', '271', '', 'FISH', '', '', '', '', '', '', '', 'The most significant abnormalities include the translocation, t(12;21)(p13;q22), giving rise to the ETV6/AML1 gene fusion. '), ('8', 'RAD51L1_PLAG1', 't(8;14)(q12;q24) / t(8;14)  / ', 'RAD51L1', 'PLAG1', '23890983', '270', 'lipoblastoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'A novel PLAG1-RAD51L1 gene fusion resulting from a t(8;14)(q12;q24) in a case of lipoblastoma..     ///    \"Furthermore, fluorescence in situ hybridization demonstrated that the translocation fused the PLAG1-RAD51L1 genes. \"'), ('9', 'EWS_ERG', 't(11;22)(q24;q12) / t(2;11;22)  / t(12;22)  / ', 'EWS', 'ERG', '9242212', '267', 'ewing sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Using fluorescence in situ hybridization (FISH) on interphase nuclei or metaphases, we report here the characterization of particular karyotypes in Ewing tumors, namely a complex t(2;11;22) translocation, a variant t(12;22) translocation, and one Ewing tumor without specific rearrangements but with an EWS/ERG fusion gene demonstrated by molecular analysis.     ///    and (4) to show that the generation of an EWS/ERG fusion gene cannot be obtained through a simple balanced translocation..     ///    Multiple chromosomal mechanisms generate an EWS/FLI1 or an EWS/ERG fusion gene in Ewing tumors.. '), ('10', 'NPM1_MLF1', 't(3;5)  / ', 'NPM1', 'MLF1', '16341035', '267', 'leukemia\r\r', 'FISH;PCR', '', '', '', '', 'Transcription_Factor', 'KB', '', ' The assignment with chromosome banding techniques of the breakpoints of the recurrent translocation t(3;5) which leads to NPM1/MLF1 gene fusion in myeloid malignancies has not been unequivocal.     ///    \"In three patients, colocalization of the NPM1 and MLF1 spanning BACs was demonstrated and NPM1/MLF1 fusion shown by PCR in one while in the remaining cases breakpoints were located outside the NPM1 and MLF1 loci. \"'), ('11', 'NFIB_MYB', 't(6;9)(q22-23;p23-24) / ', 'NFIB', 'MYB', '25217885', '266', 'adenoid cystic carcinoma\r\r', 'FISH ', '', '', '', '', '', 'KB', '', ' Adenoid cystic carcinomas (ACCs) from various anatomical sites harbor a translocation t(6;9)(q22-23;p23-24), resulting in MYB-NFIB gene fusion.     ///    We confirm that MYB-NFIB gene fusion is observed in mammary ACCs and that a subset lacks this abnormality.    ///    We confirm that MYB-NFIB gene fusion is observed in mammary ACCs and that a subset lacks this abnormality.     ///    Our aim was to investigate the frequency of MYB-NFIB gene fusion in mammary ACCs with a focus paid to SBACC.     ///    \"Additional validation with long-term follow-up is needed to determine the relationship, if any, between MYB-NFIB gene fusion and clinical outcome. \"    ///    MYB-NFIB gene fusion in adenoid cystic carcinoma of the breast with special focus paid to the solid variant with basaloid features..     ///    \"MYB rearrangement and MYB-NFIB fusion were assessed by fluorescence in situ hybridization and reverse-transcription polymerase chain reaction, respectively. \"    ///    MYB-NFIB fusion status did not correlate with clinical outcome in studied patients. '), ('12', 'ETO_AML1', 't(6;8;21)(p22;q22;q22) / t(8;21)  / t(6;8;21)  / ', 'ETO', 'AML1', '20084788', '266', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', ' Acute myeloid leukemia associated with translocation t(8;21) and the underlying AML1-ETO gene fusion is considered as a distinct type of leukemia with characteristic morphologic features.     ///    \"However, fluorescence in situ hybridization studies revealed the involvement of chromosome 21 in the translocation and presence of the AML1-ETO chimeric gene. \"'), ('13', 'NCOA2_AHRR', 't(5;8)  / ', 'NCOA2', 'AHRR', '23261176', '266', 'solitary fibrous tumor;sarcoma\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', '', '', 'Recently, a distinctive fibroblastic tumor composed of bland spindle cells and a complex vascular network has been characterized morphologically and shown to harbor a recurrent t(5;8) translocation with AHRR-NCOA2 gene fusion. '), ('14', 'TEL_AML1', 't(12;21)  / ', 'TEL', 'AML1', '12661004', '265', 'monosomy X', 'FISH;PCR ', '', '', '', '', '', '', '', 'About 25% of cALL patients have the TEL-AML1 gene fusion derived from the t(12;21) chromosomal translocation.     ///    These results confirm previously published findings of a prenatal origin of TEL-AML1 in Europe by demonstrating its occurrence in a California-born population.     ///    The aim of our study was to determine whether TEL-AML1 fusions arise prenatally in a U.S.     ///    \"Clonotypic primers were designed for each patient breakpoint, and a nested PCR assay was used to determine the presence of the TEL-AML1 fusion sequence in neonatal Guthrie cards. \"'), ('15', 'RUNX1_ETV6', 't(12;21)  / ', 'RUNX1', 'ETV6', '16213362', '265', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' The t(12;21) produces the gene fusion ETV6/RUNX1 and is a frequent rearrangement in childhood ALL, associated with a good prognosis.     ///    \"Seventy-one bone marrow samples were analyzed with FISH, using ETV6/RUNX1 DNA probes. \"    ///    \"Six showed ETV6/RUNX1 fusion and 17, with extra RUNX1 copies, presented an additional chromosome 21 or dup(21)(q22). \"'), ('16', 'JJAZ1_JAZF1', 't(7;17) / p21;q12 / t(7;17)  / ', 'JJAZ1', 'JAZF1', '12850374', '264', 'endometrial stromal sarcoma;sarcoma\r\r', 'FISH', '', '', '', '', '', '', '', 'Cytogenetic and molecular genetic analyses of endometrial stromal sarcoma: nonrandom involvement of chromosome arms 6p and 7p and confirmation of JAZF1/JJAZ1 gene fusion in t(7;17)..     ///    \"The most characteristic translocation of this tumor type, t(7;17)(p15 approximately p21;q12 approximately q21), was recently shown to generate a JAZF1/JJAZ1 fusion gene. \"    ///    \"In one of the three tumors, a t(7;17) was seen; molecular genetic studies identified the JAZF1/JJAZ1 fusion gene in this case.\"    ///    molecular genetic studies identified the JAZF1/JJAZ1 fusion gene in this case. '), ('17', 'NTRK3_ETV6', 't(12;15)  / p13;q25 / t(12;15)(p13;q25) / ', 'NTRK3', 'ETV6', '9811336', '261', 'sarcoma\r\r', 'FISH ', 'Kinase', '', '', '', '', 'KB', 'Seq', 'The aims of this study were to determine whether congenital mesoblastic nephroma contains the t(12;15)(p13;q25) translocation and ETV6-NTRK3 gene fusion and whether ETV6-NTRK3 fusions, in CMN and CFS, antedate acquisition of nonrandom chromosome polysomies.     ///    15)(p13;q25) translocation resulting in ETV6-NTRK3 gene fusion.     ///    Congenital mesoblastic nephroma t(12;15) is associated with ETV6-NTRK3 gene fusion: cytogenetic and molecular relationship to congenital (infantile) fibrosarcoma.. '), ('18', 'TFEB_MALAT1', 't(6;11) / p21.2;q13 / ', 'TFEB', 'MALAT1', '26888508', '261', 'renal cell carcinoma\r\r', 'FISH', '', '', '', '', 'Transcription_Factor', '', '', ' To study the clinicopathologic features, immunophenotype, differential diagnosis and prognosis of renal cell carcinoma (RCC) associated with t(6;11)(p21.2;q13)/MALAT1-TFEB gene fusion.     ///    MALAT1-TFEB fusion gene was identified in 2 cases by polymerase chain reaction and direct sequencing.     ///    [Renal cell carcinoma with t(6;11)(p21.2;q13)/MALAT1-TFEB fusion: a clinical and pathological analysis].. '), ('19', 'NPM_ALK', 'inv(2)(p23q35) / t(2;5)(p23;q35) / t(1;2)(q25;p23) / t(2;5)  / ', 'NPM', 'ALK', '10702393', '259', 'non Hodgkin Lymphoma', 'FISH', 'Kinase', 'Oncogene', '', '', '', '', '', ' The subset of CD30-positive anaplastic large cell lymphomas (ALCL) with the NPM-ALK gene fusion arising from the t(2;5)(p23;q35) forms a distinct clinical and prognostic entity.     ///    \"In a screen for variant ALK gene fusions, we identified two ALCL that were negative for NPM-ALK by reverse transcriptase-polymerase chain reaction, but were positive for cytoplasmic ALK with both polyclonal and monoclonal antibodies to the ALK tyrosine kinase domain, consistent with ALK deregulation by an alteration other than the t(2;5) Case 1 was a T-lineage nodal and cutaneous ALCL in a 52-year-old woman, and Case 2 was a T-lineage nodal ALCL in a 12-year-old girl. \"'), ('20', 'ATIC_ALK', 'inv(2)(p23q35) / t(2;5)(p23;q35) / t(1;2)(q25;p23) / t(2;5)  / ', 'ATIC', 'ALK', '10702393', '259', 'non Hodgkin Lymphoma', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'ATIC-ALK: A novel variant ALK gene fusion in anaplastic large cell lymphoma resulting from the recurrent cryptic chromosomal inversion, inv(2)(p23q35)..     ///    ATIC-ALK fusion resulting from the inv(2)(p23q35) thus provides a third mechanism of ALK activation in ALK+ ALCL..     ///    The ATIC-ALK fusion was confirmed in Case 1 and also identified in Case 2 by conventional reverse transcriptase-polymerase chain reaction using ATIC forward and ALK reverse primers. '), ('21', 'IRF2BP2_CDX1', 't(1;5)(q42;q32) / t(1;5)  / ', 'IRF2BP2', 'CDX1', '23185413', '259', 'chondrosarcoma;sarcoma\r\r', 'FISH', '', '', '', '', '', 'KB', '', 'In our hospital\'s archives three more cases of MC were found, and we examined them looking for the supposedly more common HEY1-NCOA2 fusion, finding it in all three tumours but not in the case showing t(1;5) and IRF2BP2-CDX1 gene fusion.     ///    Whole-transcriptome sequencing identifies novel IRF2BP2-CDX1 fusion gene brought about by translocation t(1;5)(q42;q32) in mesenchymal chondrosarcoma..     ///    The IRF2BP2-CDX1 has not formerly been described in human neoplasia. '), ('22', 'MYC_IGH', 't(8;14)(q24;q32) / t(2;8)(p12;q24) / t(8;22)(q24;q11) / t(8;14)  / ', 'MYC', 'IGH', '17065002', '259', 'non Hodgkin Lymphoma', 'FISH', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'This study did not observe any gene fusion signal for c-MYC/IgH excluding a t(8;14) translocation and partial tri or polysomy of chromosome 8. '), ('23', 'SEPT2_MLL', 't(2;11)(q37;q23) / ', 'SEPT2', 'MLL', '19445675', '259', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Recently, we have established the MLL-SEPT2 gene fusion as the molecular abnormality subjacent to the translocation t(2;11)(q37;q23) in therapy-related acute myeloid leukemia.     ///    \"When compared with normal controls, we found a 12.8-fold reduction of wild-type SEPT2 and MLL-SEPT2 combined expression in cases with the MLL-SEPT2 gene fusion (p = 0.007), which is accompanied by a 12.4-fold down-regulation of wild-type MLL and MLL-SEPT2 combined expression (p = 0.028). \"    ///    \"RUNX1-RUNX1T1 (n = 12), normal karyotype (n = 11), and MLL gene fusions other than MLL-SEPT2 (n = 10). \"    ///    The down-regulation of SEPT2 in MLL-SEPT2 myeloid neoplasias was statistically significant when compared with all other leukemia genetic subgroups (including those with other MLL gene fusions).     ///    \"We also studied all three MLL-SEPT2 myeloid neoplasia cases reported in the literature, namely two AML patients and a t-MDS patient. \"    ///    Both SEPT2 and MLL are down-regulated in MLL-SEPT2 therapy-related myeloid neoplasia..     ///    \"In addition, MLL expression was also down-regulated in the group of MLL fusions other than MLL-SEPT2, when compared with the normal control group (p = 0.023) We found a significant down-regulation of both SEPT2 and MLL in MLL-SEPT2 myeloid neoplasias. \"    ///    \"In addition, we also found that MLL is under-expressed in AML patients with MLL fusions other than MLL-SEPT2.. \"'), ('24', 'ETV6_AML1', 't(12;21)  / t(12;21) / inv(12)(p13q24) / ', 'ETV6', 'AML1', '8653712', '258', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Aberrations identified in this case involve both chromosomes 12 and include not only the ETV6-AML1 gene fusion and two different microdeletions of ETV6 but also the hemizygous loss of CDKN1B, D12S119, and KRAS2 loci and a putative rearrangement of the second CDKN1B allele as a result of an inv(12)(p13q24).     ///    \"Moreover, it was shown that the AML1-ETV6 reciprocal chimeric transcript was not present in the malignant cells, and hence may not play a major role in leukemogenesis. \"'), ('25', 'NTRK3_ETV6', 't(12;15)(p13;q25) / ', 'NTRK3', 'ETV6', '11743047', '256', 'congenital mesoblastic nephroma;fibrosarcoma', 'FISH ', 'Kinase', '', '', '', '', 'KB', 'Seq', 'Recently, a t(12;15)(p13;q25) resulting in ETV6-NTRK3 gene fusion was detected in patients with IFS and in patients with the cellular type of CMN, suggesting a common pathogenetic pathway. '), ('26', 'PAX7_FOXO1A', 't(2;13)(q35;q14) / t(1;13)(q36;q14) / / ', 'PAX7', 'FOXO1A', '17350470', '254', 'rhabdomyosarcoma', 'FISH ', '', '', '', '', '', '', '', 'In contrast, a t(2;13)(q35;q14) or t(1;13)(q36;q14) corresponding to PAX3-FOXO1A (previously FKHR) and PAX7-FOXO1A gene fusions are considered tumor-specific anomalies for alveolar RMS (ARMS).    ///    \"In contrast, a t(2;13)(q35;q14) or t(1;13)(q36;q14) corresponding to PAX3-FOXO1A (previously FKHR) and PAX7-FOXO1A gene fusions are considered tumor-specific anomalies for alveolar RMS (ARMS). \"    ///    \"Subsequent analyses showed tumor cells to be negative for FOXO1A, PAX3, or PAX7 gene locus rearrangements (by fluorescence in situ hybridization) and also negative for PAX3-FOXO1A and PAX7-FOXO1A fusion transcripts (by reverse transcriptase-polymerase chain reaction).\"    ///    \"Subsequent analyses showed tumor cells to be negative for FOXO1A, PAX3, or PAX7 gene locus rearrangements (by fluorescence in situ hybridization) and also negative for PAX3-FOXO1A and PAX7-FOXO1A fusion transcripts (by reverse transcriptase-polymerase chain reaction). \"'), ('27', 'EWS_ATF', 't(12;22)(q13;q12) / ', 'EWS', 'ATF', '18300800', '254', 'fibrous histiocytoma;sarcoma;histiocytoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Genetic analyses revealed a t(12;22)(q13;q12) and a unique underlying clear cell sarcomalike type 1 EWS/ATF-1 gene fusion.. '), ('28', 'TEL_AML1', 't(12;21) / ', 'TEL', 'AML1', '18656693', '254', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'He had a normal karyotype by G-banded chromosome analysis, and a deletion of the ETV6 (alias TEL) gene was determined by fluorescence in situ hybridization analysis using DNA probes specific for t(12;21), which leads to ETV6/RUNX1 (alias TEL/AML1) gene fusion, but no translocation was found between the two genes. '), ('29', 'TEL_AML1', 't(12;21)  / t(12;21) / ', 'TEL', 'AML1', '10910927', '254', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', ' The t(12;21) translocation resulting in TEL/AML1 gene fusion is present in approximately 25% of patients with precursor B-lineage pediatric acute lymphoblastic leukemia (ALL).     ///    \"In conclusion, the presence of TEL/AML1 gene fusion in childhood precursor B-lineage ALL does not seem to be associated with a high in vitro drug sensitivity, except for ASP, indicating that these patients could benefit from treatment schedules with significant use of this drug.. \"    ///    TEL/AML1 gene fusion is related to in vitro drug sensitivity for L-asparaginase in childhood acute lymphoblastic leukemia..     ///    \"However, the TEL/AML1-positive patients were relatively more sensitive to L-asparaginase (ASP. \"    ///    \"The median LC(50) values did not differ significantly between TEL/AML1-positive and -negative samples for prednisolone, dexamethasone, daunorubicin, thiopurines, epipodophyllotoxins, and 4-HOO-ifosfamide. \"    ///    \"After matching for unevenly distributed patient characteristics-that is, excluding patients younger than 12 months, patients with CD10-negative immature B-lineage ALL, patients with Philadelphia chromosome, and patients who were hyperdiploid (more than 50 chromosomes) from the TEL/AML1 negative group-the only remaining difference was a relative sensitivity for ASP in the TEL/AML1-positive samples (10.8-fold. \"'), ('30', 'TEL_AML1', 't(12;21)  / ', 'TEL', 'AML1', '12847317', '252', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'The FISH test were performed using TEL/AML1 fusion gene probe and the centromere probes for chromosome 8 and 10 to detect the t(12;21) translocation and/or hyperdiploidy. '), ('31', 'MAML2_CRTC1', 't(11;19) / t(11;19)(q21;p13) / ', 'MAML2', 'CRTC1', '19092631', '251', 'mucoepidermoid carcinoma\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Mucoepidermoid carcinoma of the cervix: another tumor with the t(11;19)-associated CRTC1-MAML2 gene fusion..     ///    \"Analysis of the cervical MECs demonstrated a CRTC1-MAML2 fusion in 1 case, rearrangements of CRTC1 in 4 cases, and aberrations of MAML2 in 5 cases (rearrangements in 2 cases, amplification in 3 cases). \"'), ('32', 'JJAZ1_JAZF1', 't(7;17)(p15;q21) / ', 'JJAZ1', 'JAZF1', '21316079', '251', 'endometrial stromal sarcoma', 'FISH ', '', '', '', '', '', '', '', 'The present study evaluates the prevalence of the t(7;17)(p15;q21) and JAZF1-JJAZ1 gene fusion in a series of 6 cases of primary extrauterine endometrial stromal sarcoma.     ///    \"The most common cytogenetic abnormality in these tumors is t(7;17)(p15;q21), which occurs in 33% to 80% of cases and results in a JAZF1-JJAZ1 gene fusion. \"    ///    These findings demonstrate that the t(7;17)(p15;q21) and associated JAZF1-JJAZ1 fusion transcripts are present in only a subset of primary extrauterine endometrial stromal sarcoma.     ///    \"In one of the 6 extrauterine endometrial stromal sarcoma cases, JAZF1-JJAZ1 fusion transcripts were detected by reverse transcriptase-polymerase chain reaction. \"'), ('33', 'JJAZ1_JAZF1', 't(7;17)  / ', 'JJAZ1', 'JAZF1', '19542872', '249', 'uterine neoplasm', 'FISH ', '', '', '', '', '', '', '', 'Recently, several studies have revealed a recurrent t(7;17) translocation resulting in a JAZF1-JJAZ1 gene fusion in over 60% of EST and its variants, including 2 out of 4 endometrial stromal tumors with sex cord-like elements (ESTSCLE).     ///    \"We examined UTROSCTs for evidence of the JAZF1-JJAZ1 gene fusion by fluorescence in situ hybridization and by reverse transcriptase polymerase chain reaction in 24 and 20 cases, respectively. \"    ///    The JAZF1-JJAZ1 gene fusion was not identified in any tumor by either method.     ///    Uterine tumors resembling ovarian sex cord tumors (UTROSCT) lack the JAZF1-JJAZ1 translocation frequently seen in endometrial stromal tumors.. '), ('34', 'RARA_PML', 't(15;17)  / t(15;17)(q22;q12) / ', 'RARA', 'PML', '9276968', '249', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Identification of classic and complex t(15;17) and/or RAR alpha/PML gene fusion in APL by cytogenetic and dual color-FISH techniques..     ///    \"In this study, t(15;17) was identified cytogenetically by using the conventional cytogenetic technique, and its molecular counterpart RAR alpha/PML fusion on chromosome 17 on interphase nuclei was further confirmed by means of dual color- (DC-) fluorescence in situ hybridization (FISH) on serial bone marrow (BM) and peripheral blood (PB) samples from APL patients at different stages of the disease. \"    ///    \"Overall, our findings indicate that interphase DC-FISH analysis can be a useful technique as an adjunct to conventional cytogenetic investigation for detecting the presence of RAR alpha/PML fusion in APL.. \"'), ('35', 'EWS_ATF', 't(12;22)  / t(12;22)(q13;q12) / ', 'EWS', 'ATF', '9160316', '247', 'clear cell sarcoma;malignant meningioma', 'FISH ', '', '', '', '', '', '', '', 'Our data provide additional support for the specific association of the t(12;22) and the resulting EWS/ATF-1 gene fusion in MMSP.     ///    The presence of the EWS/ATF-1 fusion gene in the tumor cells was demonstrated by dual color fluorescence in situ hybridization on interphase nuclei. '), ('36', 'TEL_AML1', 't(12;21)  / t(12;21) / ', 'TEL', 'AML1', '11516105', '247', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', ' TEL/AML1 gene fusion that results from a cryptic t(12;21) is the most common genetic aberration in childhood B-lineage acute lymphoblastic leukemia (ALL).     ///    We investigated 12 cases of childhood ALL with TEL/AML1 gene fusion by fluorescence in situ hybridization (FISH) and comparative genomic hybridization (CGH) and documented additional or secondary genetic changes in seven patients (58%).     ///    \"Our findings confirm that additional or secondary genetic changes including AML1 amplification are commonly encountered in childhood ALL with TEL/AML1 gene fusion, which are envisaged to play significant roles in disease progression.. \"    ///    Three patients showed extra copies of chromosome 21 including a case in which the trisomy 21 (+21) clone was distinct from the one harboring TEL/AML1 gene fusion.     ///    Characterization of additional genetic events in childhood acute lymphoblastic leukemia with TEL/AML1 gene fusion: a molecular cytogenetics study.. '), ('37', 'NTRK3_ETV6', 't(12;15) / ', 'NTRK3', 'ETV6', '19011601', '246', 'breast carcinoma;sarcoma\r\r', 'FISH ', 'Kinase', '', '', '', '', 'KB', 'Seq', 'Remarkably, this entity is the only epithelial tumor of the breast with a balanced translocation, t(12;15), that creates an ETV6-NTRK3 gene fusion encoding chimeric tyrosine kinase also encountered in cellular mesoblastic nephroma and infantile fibrosarcoma. '), ('38', 'NPM_ALK', 't(2;5)(p23;q35) / inv(2)(p23q35) / ', 'NPM', 'ALK', '9250148', '243', 'anaplastic large cell lymphoma;lymphoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'Two additional ALK1-positive cases with an abnormal karyotype, but without t(2;5)(p23;q35), showed by fluorescence in situ hybridization analysis a cryptic NPM/ALK gene fusion caused by an insertion of ALK near NPM in one case and a translocation of ALK to 2q35 as a result of an indiscernible inv(2)(p23q35) in the other. '), ('39', 'PAX5_ELN', 't(7;9) / ', 'PAX5', 'ELN', '24507461', '240', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', 'KB', '', 'Using conventional cytogenetics, fluorescence in situ hybridization (FISH), and molecular methods, an additional case with a der(9)t(7;9)(q11.23;p13) resulting in the expression of a PAX5-ELN fusion gene was identified. '), ('40', 'BCR_ABL1', 't(9;22)(q34;q11) / ', 'BCR', 'ABL1', '15716990', '240', '', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Deletions from the derivative chromosome 9, der(9), of the translocation, t(9;22)(q34;q11), at the site of the ABL/BCR fusion gene, have been demonstrated by fluorescence in situ hybridisation (FISH), in both Philadelphia chromosome (Ph)-positive chronic myeloid leukaemia (CML) and acute lymphoblastic leukaemia (ALL).     ///    This study presents the findings of dual fusion FISH used to detect such deletions in a series of 27 BCR/ ABL-positive childhood ALL patients. '), ('41', 'BCR_ABL1', 't(9;22)(q34;q11) / ', 'BCR', 'ABL1', '20809971', '239', '', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Chronic myeloid leukaemia (CML) is characterized by the expression of the BCR/ABL1 fusion gene, a constitutively activated tyrosine kinase that commonly results from the formation of the Philadelphia (Ph) chromosome after a t(9;22)(q34;q11) or variant rearrangement.     ///    Genomic amplification of BCR/ABL1 and a region downstream of ABL1 in chronic myeloid leukaemia: a FISH mapping study of CML patients and cell lines..     ///    \"The duplication of the Ph chromosome is a recurring abnormality acquired during disease progression, whereas intrachromosomal amplification of BCR/ABL1 is a rare phenomenon and has been associated with imatinib therapy resistance. \"    ///    \"One of the patients had 5 BCR/ABL1 positive clones with variable level of 9q34 amplifications on a variety of structures, from an isoderivative 22 to tandem duplications. \"    ///    \"Archival bone marrow chromosome suspensions from 19 CML patients known to carry more than 1 copy of BCR/ABL1 and 10 CML cell lines were analyzed by fluorescent in situ hybridization with a panel of probes from 9q34.1-qter to investigate whether they carried two identical copies of the Ph chromosome or, instead, one or both Ph contained cryptic imbalances of some regions. \"    ///    These data confirm that the intrachromosomal genomic amplification of BCR/ABL1 that occurs in some CML patients during disease progression also involves amplification of 9q34 gene-rich sequences downstream of ABL1 breakpoint.     ///    \"2 patients were found to carry marker structures harbouring high copy number gains of BCR/ABL1 fusion along with a variable part of 9q34 region downstream of ABL1 breakpoint, similarly to the markers present in the imatinib resistant cell line K562. \"'), ('42', 'NUP98_NSD1', '11p15.4 / ', 'NUP98', 'NSD1', '18068532', '239', 'leukemia\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', ' A case of NUP98-NSD1 gene fusion resulting from the insertion of a subtelomeric part of chromosome 11p15.4 within the subtelomeric part of 5q35 was detected in a child with acute myeloblastic leukemia.     ///    NUP98-NSD1 fusion by insertion in acute myeloblastic leukemia.. '), ('43', 'EWS_ERG', 't(19;22) / ', 'EWS', 'ERG', '18295659', '237', 'ewing sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'We report an unusually aggressive case of ES with an EWS-ERG fusion gene that appeared to be a result of a simple balanced and reciprocal translocation, t(19;22)(q13.2;q12.2).     ///     EWS-ERG Ewing sarcoma (ES) gene fusions often result from complex chromosomal rearrangements.     ///    \"Complex rearrangement of chromosomes 19, 21, and 22 in Ewing sarcoma involving a novel reciprocal inversion-insertion mechanism of EWS-ERG fusion gene formation: a case analysis and literature review.. \"    ///    \"Molecular cytogenetic investigation, using systematic analysis with locus-specific probes, identified the cognate genomic breakpoints within chromosome 21 and 22, mandatory for the excision and exchange of both 3\'ERG and 3\'EWS, resulting in the formation of the EWS-ERG fusion gene present on the der(22). \"    ///    \"Subsequent molecular investigation of the primary tumor, the metastasis, and a cell line generated from this ES permitted reconstruction of each genomic step in the evolution of this complex EWS-ERG fusion. \"'), ('44', 'JAK2_BCR', 't(9;22) / p24;q11.2 / ', 'JAK2', 'BCR', '16001431', '237', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11.2) translocation in a patient with a clinically typical chronic myeloid leukemia..     ///    The BCR-JAK2 fusion protein contains the coiled-coil dimerization domain of BCR and the protein tyrosine kinase domain (JH1) of JAK2.     ///    \"The patient\'s disease did not respond to Imatinib, and this unresponsiveness was most likely a result of the BCR-JAK2 fusion protein.. \"'), ('45', 'TCF3_PBX1', '19p13.3 / t(1;19) / t(1;19)  / t(13;19)(q14;p13) / t(12;19)(p13;p13) / ', 'TCF3', 'PBX1', '17311319', '235', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', ' The t(1;19)(q23;p13.3) is one of the most common chromosomal abnormalities in B-cell precursor acute lymphoblastic leukemia (BCP-ALL) and usually gives rise to the TCF3-PBX1 fusion gene. '), ('46', 'ETO_AML1', 't(1;8;21)(p35;q22;q22) / t(8;21)(q22;q22) / ', 'ETO', 'AML1', '18206543', '235', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'To the best of our knowledge, this is the first report about the relocation of the AML1/ETO fusion gene to the 1p35 rather than der(8), suggesting the presence of a novel variant of t(8;21)(q22;q22) in the observed patient..     ///    Molecular cytogenetic findings in a three-way novel variant of t(1;8;21)(p35;q22;q22): a unique relocation of the AML1/ETO fusion gene 1p35 in AML-M2..     ///    \"Using a dual-color FISH test with ETO and AML1 probes, an AML1/ETO fusion signal on the derivative 1p35 instead of der(8) was demonstrated. \"'), ('47', 'PAX5_LOC392027', '7p12.1 / ', 'PAX5', 'LOC392027', '18957548', '235', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'This approach identified 5 fusion gene partners with PAX5: LOC392027 (7p12.1), SLCO1B3 (12p12), ASXL1 (20q11.1), KIF3B (20q11.21), and C20orf112 (20q11.1). '), ('48', 'KTN1_ALK', 't(2;14)(p23;q22) / del(2)(p16p23) / ', 'KTN1', 'ALK', '25795305', '232', 'lung cancer\r\r', 'FISH;PCR ', 'Kinase', 'Oncogene', '', '', '', '', '', 'Tumor 1 had an unbalanced t(2;14)(p23;q22) translocation which led to the fusion gene KTN1-ALK. '), ('49', 'FUS_CREB3L2', 't(7;16)(q34;p11) / / ', 'FUS', 'CREB3L2', '21399449', '231', 'fibrous histiocytoma;sarcoma;histiocytoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'A t(7;16)(q34;p11) translocation, yielding a FUS/CREB3L2 fusion gene, has been identified in approximately 80%-90% of deep soft tissue LGFMS.    ///    \"A t(7;16)(q34;p11) translocation, yielding a FUS/CREB3L2 fusion gene, has been identified in approximately 80%-90% of deep soft tissue LGFMS. \"'), ('50', 'PCM1_JAK2', 't(8;9)(p22;p24) / ', 'PCM1', 'JAK2', '16091753', '231', 'myeloproliferative disorder\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'The t(8;9)(p22;p24) translocation in atypical chronic myeloid leukaemia yields a new PCM1-JAK2 fusion gene..     ///    Sequence analysis of the chimeric PCM1-JAK2 mRNA suggests that the putative protein displays the coiled-coil domains of PCM1 and the tyrosine kinase domain of JAK2. '), ('51', 'FUS_ATF1', 't(12;16)(q13;p11) / t(12;22)(q13;q12) / t(2;22)(q33;q12) / / ', 'FUS', 'ATF1', '19801966', '231', 'ewing sarcoma;histiocytoma;neuroectodermal tumor', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Angiomatoid fibrous histiocytoma has been found to harbor three related translocations, a t(12;16)(q13;p11) resulting in a FUS/ATF1 fusion gene, t(12;22)(q13;q12) resulting in a EWSR1/ATF1 fusion, and t(2;22)(q33;q12) resulting in a EWSR1/CREB1 fusion.    ///    \"Angiomatoid fibrous histiocytoma has been found to harbor three related translocations, a t(12;16)(q13;p11) resulting in a FUS/ATF1 fusion gene, t(12;22)(q13;q12) resulting in a EWSR1/ATF1 fusion, and t(2;22)(q33;q12) resulting in a EWSR1/CREB1 fusion. \"'), ('52', 'MKL2_C11orf95', 't(11;16)(q13;p13) / t(12;16)(q13;p11) / ', 'MKL2', 'C11orf95', '21274402', '231', 'liposarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Indeed, most resent molecular cytogenetic analysis has demonstrated a translocation t(11;16)(q13;p13) that produces a C11orf95-MKL2 fusion gene in chondroid lipoma. '), ('53', 'MYB_NFIB', 't(6;9)  / ', 'MYB', 'NFIB', '25963073', '231', 'adenoid cystic carcinoma\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'Many ACCs have a t(6;9) chromosomal translocation resulting in a MYB-NFIB fusion gene, but the clinical significance is unclear.     ///    \"Ninety-one tumors were evaluable using FISH, and 59 (65%) had evidence of a MYB-NFIB fusion. \"'), ('54', 'SYT_SSX1', 'p11.2;q11.2 / ', 'SYT', 'SSX1', '10398111', '230', 'synovial sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', ' Identification of the t(X;18)(p11.2;q11.2) and the fusion gene products, SYT-SSX1 and SYT-SSX2, associated with a high proportion of synovial sarcomas, has been shown to be a useful diagnostic aid. '), ('55', 'ETO_AML1', 't(8;21)(q22;q22) / ', 'ETO', 'AML1', '22040962', '230', 'acute myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'The results indicated that AML1-ETO fusion gene was detected in 30.5% cases (25/82) by FISH, and t(8;21)(q22;q22) karyotypic aberrations was found in 28.0% cases (23/82) by CC method.     ///    \"The cytogenetic characteristics in leukemia cells from 82 cases of AML-M(2) and 43 cases of AML-M(4)/M(5) were detected by using I-FISH with AML1-ETO double color double fusion probe and double color break point isolated gene probe CBF?-MYH11, and the detected results were compared with results detected by conventional cytogenetic R banding technique (CC). \"'), ('56', 'PDGFB_COL1A1', 't(17;22)(q21;q13) / ', 'PDGFB', 'COL1A1', '24507098', '230', 'dermatofibrosarcoma,', 'FISH ', '', 'Oncogene', '', '', '', 'KB', '', 'Among the 4 cases successfully examined by FISH, 3 showed t(17;22)(q21;q13) which suggested COL1A1/PDGFB fusion gene.     ///    \"Fluorescence in situ hybridization (FISH) was used to detect the expression of COL1A1/PDGFB fusion gene, and related literature was reviewed. \"'), ('57', 'TEL_AML1', 't(12;21) / t(12;21)  / ', 'TEL', 'AML1', '18928518', '230', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', ' We have analyzed t(12;21)(p13:q22) in an attempt to evaluate the frequency and prognostic significance of TEL-AML1 fusion gene in patients with childhood CD 10 positive B-ALL by fluorescence in situ hybridization (FISH).     ///    Persistence of TEL-AML1 fusion gene as minimal residual disease has no additive prognostic value in CD 10 positive B-acute lymphoblastic leukemia: a FISH study..     ///    TEL-AML1 fusion gene was positive in (37.5%) in newly diagnosed patients.     ///    \"There was a significant correlation between TEL-AML1 fusion gene both at diagnosis (r = 0.5, P = 0.003) and as a MRD (r = 0.4, P = 0.01) with favorable course. \"    ///    \"For most patients, the presence of TEL-AML1 fusion gene at diagnosis suggests a favorable prognosis. \"    ///    Kaplan-Meier curve for the presence of TEL-AML1 fusion at the diagnosis was associated with a better probability of overall survival (OS).     ///    \"So, persistence of TEL-AML1 fusion as a MRD had no additive prognostic value over its measurement at diagnosis in terms of predicting the probability of OS. \"    ///    The present study suggests that persistence of TEL-AML1 fusion as MRD has no additive prognostic value..     ///    We determined the prognostic significance of TEL-AML1 fusion represented by disease course and survival.     ///    \"Also, the persistence at TEL-AML1 fusion as a MRD was not significantly associated with a better probability of OS. \"'), ('58', 'BCR_ABL1', 't(9;22)(q34;q11) / t(12;13)(p12;q13) / ', 'BCR', 'ABL1', '12823349', '227', '', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Most chronic myeloid leukaemia (CML) patients are genetically characterized by the t(9;22)(q34;q11), generating the BCR/ABL1 fusion gene. '), ('59', 'WWTR1_CAMTA1', 't(1;3)  / ', 'WWTR1', 'CAMTA1', '23737213', '226', 'sarcoma;epithelioid hemangioendothelioma;epithelioid hemangioendothelioma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', '', '', ' Conventional epithelioid hemangioendotheliomas (EHE) have a distinctive morphologic appearance and are characterized by a recurrent t(1;3) translocation, resulting in a WWTR1-CAMTA1 fusion gene.     ///    \"Based on a case showing strong transcription factor E3 (TFE3) immunoreactivity, fluorescence in situ hybridization (FISH) analysis for TFE3 gene rearrangement was applied to the index case as well as to nine additional cases, selected through negative WWTR1-CAMTA1 screening. \"'), ('60', 'PDGFB_COL1A1', 't(17;22)(q22;q13) / ', 'PDGFB', 'COL1A1', '23347652', '226', 'dermatofibrosarcoma protuberans;sarcoma\r\r', 'FISH ', '', 'Oncogene', '', '', '', 'KB', '', ' Dermatofibrosarcoma protuberans (DFSP) is characterized genetically by the translocation t(17;22)(q22;q13), which creates a COL1A1/PDGFB fusion gene.     ///    Detection of COL1A1/PDGFB rearrangement by fluorescence in situ hybridization is useful for confirmation of the diagnosis.     ///    These results suggest a role for COL1A1/PDGFB in sarcomatous change in DFSP over time. '), ('61', 'PAX7_FOXO1', 't(2;13)(q35;q14) / t(1;13)(p36;q14) / ', 'PAX7', 'FOXO1', '19704258', '226', 'liposarcoma;ewing sarcoma;rhabdomyosarcoma;neuroectodermal tumor;neuroblastoma;sarcoma\r\r', 'FISH ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', ' Alveolar rhabdomyosarcoma (ARMS) is an aggressive neoplasm with unique t(2;13)(q35;q14) or t(1;13)(p36;q14) chromosomal translocations, resulting in PAX3/FOXO1 and PAX7/FOXO1 fusion genes, in approximately 80% of cases. '), ('62', 'PAX3_FOXO1', 't(2;13)(q35;q14) / t(1;13)(p36;q14) / ', 'PAX3', 'FOXO1', '19704258', '226', 'liposarcoma;ewing sarcoma;rhabdomyosarcoma;neuroectodermal tumor;neuroblastoma;sarcoma\r\r', 'FISH ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', ' Alveolar rhabdomyosarcoma (ARMS) is an aggressive neoplasm with unique t(2;13)(q35;q14) or t(1;13)(p36;q14) chromosomal translocations, resulting in PAX3/FOXO1 and PAX7/FOXO1 fusion genes, in approximately 80% of cases. '), ('63', 'NUP98_NSD1', 't(5;11) / del(5q) / t(5;11)  / ', 'NUP98', 'NSD1', '12353270', '225', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', ' The cryptic translocation t(5;11)(q35;p15.5), which creates a NSD1-NUP98 fusion gene, has been associated with a deletion of the long arm of chromosome 5, del(5q), in pediatric acute myeloid leukemia (AML) patients with differentiated phenotype. '), ('64', 'ETO_AML1', 't(8;21)  / t(8;21)(p21;q22) / t(8;20)(q22;p13) / t(8;21)(q22;q22) / ', 'ETO', 'AML1', '9885986', '225', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Creation of functional AML1-ETO fusion genes in these two simple variant t(8;21) probably occurred through complex mechanisms, combining translocation and insertion of chromosomal segments..     ///    \"However, dual-color FISH using appropriate ETO and AML1 probes disclosed an insertion of AML1 into 8q22 on the derivative chromosome 8 in patient 1 and of ETO into 21q22 on one chromosome 21 in patient 2, leading to AML1-ETO fusion signals. \"    ///    \"Both cases expressed an AML1-ETO transcript, shown by reverse transcriptase polymerase chain reaction and cDNA sequencing. \"'), ('65', 'IKZF2_BCL11B', 't(2;14)(q34;q32) / ', 'IKZF2', 'BCL11B', '22867996', '225', 'T cell leukemia', 'FISH ', '', '', '', '', '', '', '', 'HELIOS-BCL11B fusion gene involvement in a t(2;14)(q34;q32) in an adult T-cell leukemia patient..     ///    Reverse transcription-polymerase chain reaction analysis of the leukemia cells revealed that a substantial level of the HELIOS-BCL11B fusion mRNA was expressed relative to the level of wild-type (WT)-BCL11B derived from the intact allele.     ///    \"Functional analysis of the HELIOS-BCL11B fusion protein revealed reduced transcriptional suppression activity compared to that of the WT-BCL11B due to the loss of the N-terminal friend of GATA-repression motif, which functions as a metastasis-associated protein 2 binding site. \"'), ('66', 'EWSR1_NR4A3', 't(9;22)(q22;q12) / t(9;17)(q22;q11) / / ', 'EWSR1', 'NR4A3', '15262426', '221', 'chondrosarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Extraskeletal myxoid chondrosarcoma (EMC) is a rare mesenchymal tumor cytogenetically characterized by reciprocal translocations, such as t(9;22)(q22;q12) and t(9;17)(q22;q11), which result in EWSR1/NR4A3 and TAF15/NR4A3 fusion genes (alias EWS/NOR1, TAF2N/NOR1), respectively.    ///    \" Extraskeletal myxoid chondrosarcoma (EMC) is a rare mesenchymal tumor cytogenetically characterized by reciprocal translocations, such as t(9;22)(q22;q12) and t(9;17)(q22;q11), which result in EWSR1/NR4A3 and TAF15/NR4A3 fusion genes (alias EWS/NOR1, TAF2N/NOR1), respectively. \"    ///    Fourteen tumors with detectable NR4A3 fusion genes (EWSR1-NR4A3. '), ('67', 'PDGFB_COL1A1', 't(17;22) / ', 'PDGFB', 'COL1A1', '18069662', '221', 'dermatofibrosarcoma protuberans;sarcoma\r\r', 'FISH ', '', 'Oncogene', '', '', '', 'KB', '', ' Giant cell fibroblastoma (GCF) is a subcutaneous mesenchymal neoplasm characterized by the chromosomal t(17;22), which results in the formation of the fusion gene COL1A1-PDGFB.     ///    All GCF and GCF/DFSP hybrids showed unbalanced rearrangements of COL1A1-PDGFB at the molecular cytogenetic level.     ///    \"Herein, we studied the frequency and genomic copy number of COL1A1-PDGFB in pure GCF and GCF/DFSP hybrids, and identified the molecular cytogenetic signatures in individual cells in each component. \"    ///    \"Genomic gains of COL1A1-PDGFB were found predominantly in the DFSP component of GCF/DFSP hybrids but in none of the pure GCF, suggesting that these gains are associated with the histologic evolution of GCF into DFSP. \"    ///    \"Herein, we studied the frequency and genomic copy number of COL1A1-PDGFB in pure GCF and GCF/DFSP hybrids, and identified the molecular cytogenetic signatures in individual cells in each component.\"'), ('68', 'SSBP2_JAK2', 't(5;9) / ', 'SSBP2', 'JAK2', '18618714', '221', 'myeloproliferative disorder;leukemia;hematopoietic malignancy;polycythemia vera\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Novel SSBP2-JAK2 fusion gene resulting from a t(5;9)(q14.1;p24.1) in pre-B acute lymphocytic leukemia.. '), ('69', 'NOR1_EWS', 't(9;22)(q22;q12) / t(9;17)(q22;q11) / ', 'NOR1', 'EWS', '15262426', '221', 'chondrosarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', '', ' Extraskeletal myxoid chondrosarcoma (EMC) is a rare mesenchymal tumor cytogenetically characterized by reciprocal translocations, such as t(9;22)(q22;q12) and t(9;17)(q22;q11), which result in EWSR1/NR4A3 and TAF15/NR4A3 fusion genes (alias EWS/NOR1, TAF2N/NOR1), respectively. '), ('70', 'RARA_NPM', 't(5;17)  / t(5;17)(q35;q21) / t(5;17) / ', 'RARA', 'NPM', '18683144', '221', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'Variant t(5;17) giving rise to the fusion gene of NPM-RAR aleph rarely occurs in APL patients. '), ('71', 'TAF2N_NOR1', 't(9;22)(q22;q12) / t(9;17)(q22;q11) / ', 'TAF2N', 'NOR1', '15262426', '221', 'chondrosarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', '', ' Extraskeletal myxoid chondrosarcoma (EMC) is a rare mesenchymal tumor cytogenetically characterized by reciprocal translocations, such as t(9;22)(q22;q12) and t(9;17)(q22;q11), which result in EWSR1/NR4A3 and TAF15/NR4A3 fusion genes (alias EWS/NOR1, TAF2N/NOR1), respectively. '), ('72', 'TAF15_NR4A3', 't(9;22)(q22;q12) / t(9;17)(q22;q11) / ', 'TAF15', 'NR4A3', '15262426', '221', 'chondrosarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', ' Extraskeletal myxoid chondrosarcoma (EMC) is a rare mesenchymal tumor cytogenetically characterized by reciprocal translocations, such as t(9;22)(q22;q12) and t(9;17)(q22;q11), which result in EWSR1/NR4A3 and TAF15/NR4A3 fusion genes (alias EWS/NOR1, TAF2N/NOR1), respectively.     ///    TAF15-NR4A3) expressed neither native NOR1 nor SIX3. '), ('73', 'TCF3_HLF', 't(17;19) / t(1;9)(p13;p13) / 19p13.3 / t(1;19)(q23;p13) / 22p13.3 / t(3;10)  / t(1;9)  / ', 'TCF3', 'HLF', '27183380', '221', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'The t(17;19)(q22;p13.3), resulting in the TCF3-HLF fusion gene, is also seen in B-ALL and is associated with an extremely poor prognosis. '), ('74', 'TCF3_PBX1', 't(1;19)(q23;p13) / t(1;19) / t(1;19)  / ', 'TCF3', 'PBX1', '25729575', '219', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'However, due to different translocation partner genes at chromosomes 1 and 19, distinct subtypes of hyperdiploid B-ALL with t(1;19)/der(19)t(1;19) are recognized based on the presence or absence of the TCF3-PBX1 fusion gene, but the cytogenetic and etiologic differences between the two remain understudied.     ///    \"Fluorescence in situ hybridization (FISH) on previously G-banded metaphases using the LSI TCF3/PBX1 Dual Color, Dual Fusion Translocation Probe confirmed the presence of the TCF3-PBX1 gene fusion. \"    ///    Such molecular studies may provide insight into the precise differences between TCF3-PBX1 positive and negative hyperdiploid B-ALL bearing the t(1;19)(q23;p13)..     ///    \"The t(1;19)(q23;p13), which can result in the TCF3-PBX1 chimeric gene, is one of the most frequent translocations in B-acute lymphoblastic leukemia (B-ALL) and is observed in both adult and pediatric populations at an overall frequency of 6%.\"    ///    \" The t(1;19)(q23;p13), which can result in the TCF3-PBX1 chimeric gene, is one of the most frequent translocations in B-acute lymphoblastic leukemia (B-ALL) and is observed in both adult and pediatric populations at an overall frequency of 6%. \"    ///    \"This case is one of only a few cases with both hyperdiploidy and a confirmed TCF3-PBX1 fusion, demonstrating the importance of using FISH for proper molecular classification of these cases in order to distinguish them from those with hyperdiploidy but no TCF3-PBX1 fusion gene. \"    ///    A (1;19) translocation involving TCF3-PBX1 fusion within the context of a hyperdiploid karyotype in adult B-ALL: a case report and review of the literature..     ///    This particular pattern with a TCF3-PBX1 fusion within the context of a hyperdiploid karyotype is seen in B-ALL and is usually associated with a poor outcome. '), ('75', 'ETO_AML1', 't(8;21)(q22;q22) / t(8;21)  / ', 'ETO', 'AML1', '12557226', '219', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', '', 'Because of the favorable prognosis, the evidence of the t(8;21) or the AML1/ETO fusion gene is mandatory in most of the therapy trials, allowing the stratification of the patients to the correct risk group in terms of treatment.     ///    \"Here we present six out of 59 children with AML who were positive for AML1/ETO by RT-PCR, but showed no evidence of the classical t(8;21)(q22;q22) by conventional cytogenetics. \"    ///    \"In conclusion, the combination of more than one standard technique in the analysis of AML1/ETO is useful to reveal the overall frequency of cryptic chromosome rearrangements and permits a better understanding of the mechanisms involved in the generation of this fusion gene.. \"    ///    \"Small hidden interstitial insertions resulting in an AML1/ETO rearrangement were detected in five (8.5%) of the 59 patients, whereas the sixth patient showed a cryptic three-way translocation. \"    ///    Cryptic chromosomal aberrations leading to an AML1/ETO rearrangement are frequently caused by small insertions.. '), ('76', 'NCOA2_AHRR', 't(5;8)(p15;q13) / ', 'NCOA2', 'AHRR', '24856853', '219', 'angiofibroma', 'FISH ', '', '', '', '', 'Transcription_Factor', '', '', 'The lesion has a characteristic AHRR-NCOA2 fusion gene derived from chromosomal translocation of t(5;8)(p15;q13). '), ('77', 'ETO_AML1', 't(8;21)(q22;q22) / t(8;21) (q22;q22) / t(8;21)  / t(8;21) / ', 'ETO', 'AML1', '11721969', '219', 'leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'These findings suggested that near-tetraploidy may be a secondary genetic change originating from a diploid clone with t(8;21) and that 2 AML1/ETO fusion genes are generated on the der(8)t(8;21) in near-tetraploid clones.     ///    Fluorescence in situ hybridization (FISH) analysis with an AML1/ ETO probe detected 4 fusion signals on 2 der(8)t(8;21) and 2 der(21)t(8;21) in near-tetraploid cells.     ///    CD7+ near-tetraploid acute myeloblastic leukemia M2 with double t(8;21)(q22;q22) translocations and Aml1/ETO rearrangements detected by fluorescence in situ hybridization analysis..     ///    Reverse transcription-polymerase chain reaction analysis revealed the presence of the AML1/ETO fusion transcript. '), ('78', 'MECT1_MAML2', 't(11;19)  / ', 'MECT1', 'MAML2', '21777943', '219', 'mucoepidermoid carcinoma;warthin tumor', 'FISH ', '', '', '', '', '', '', '', 'Although the prognostic value of the t(11;19) MECT1-MAML2 fusion gene has been established in mucoepidermoid carcinoma, its diagnostic use in discriminating oncocytic mucoepidermoid carcinoma from histologic mimics is unexplored. '), ('79', 'ZNF384_TAF15', 't(12;17)(p13;q12) / ', 'ZNF384', 'TAF15', '21504714', '218', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Identification of the TAF15-ZNF384 fusion gene in two new cases of acute lymphoblastic leukemia with a t(12;17)(p13;q12)..     ///    Our results confirm that the t(12;17)(p13;q12) leading to a TAF15-ZNF384 fusion gene characterizes a specific subgroup of acute lymphoblastic leukemia and suggest that two different breakpoints in TAF15 may be involved.     ///    \"This translocation has been reported in 25 cases and its putative molecular consequence, the formation of a TAF15-ZNF384 fusion gene, in only six cases. \"    ///    \"Whether the two variants of the TAF15-ZNF384 fusion that these correspond to are in any way hematologically or prognostically different, is unknown.. \"'), ('80', 'NUP98_DDX10', 'inv(11)(p15q22) / inv(11)  / ', 'NUP98', 'DDX10', '17116492', '216', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', 'Seq', ' The inv(11)(p15q22), a rare but recurrent chromosome abnormality that creates a NUP98-DDX10 fusion gene, is associated with de novo or secondary myeloid malignancies.     ///    Inversion (11)(p15q22) with NUP98-DDX10 fusion gene in pediatric acute myeloid leukemia..     ///    We also review the cases of inv(11) associated with NUP98-DDX10 reported in the literature.. '), ('81', 'BCR_ABL1', 't(9;22)  / ', 'BCR', 'ABL1', '20924716', '216', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia;neuroblastoma\r\r', 'FISH;PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Cytogenetic analysis with iFISH showed t(9;22) (q34;q11.2), with minor-BCR/ABL1 fusion gene in the majority of nuclei, while a subclone with duplication of the Philadelphia chromosome was observed.     ///    \"BCR/ABL1 fusion gene, duplication of Philadelphia chromosome and persistence of MRD constitute inferior prognostic factors, while hyperdiploidy, trisomy of chromosome 21 and FLT3-AL mutations are related to better prognosis. \"'), ('82', 'PDGFRA_FIP1L1', 'del(4)(q12) / ', 'PDGFRA', 'FIP1L1', '15921374', '216', 'leukemia;hypereosinophilic syndrome\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'del(4)(q12), producing the FIP1L1/PDGFRA fusion gene, identifies a distinct CEL subgroup (4q-/CEL).     ///    The hypereosinophilic syndrome: fluorescence in situ hybridization detects the del(4)(q12)-FIP1L1/PDGFRA but not genomic rearrangements of other tyrosine kinases..     ///    Ten of the 26 patients (9 males and 1 female) had a cryptic del(4)(q12)-FIP1L1/PDGFRA which was confirmed by reverse transcription polymerase chain reaction (RT-PCR) analysis in four. '), ('83', 'COL1A1_PDGFB', 't(17;22)(q22;q13) / t(17;22)(q22;q13) / / ', 'COL1A1', 'PDGFB', '21111450', '214', 'dermatofibrosarcoma protuberans;sarcoma\r\r', 'FISH ', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'Dermatofibrosarcoma protuberans is genetically characterized by the translocation t(17;22)(q22;q13) resulting in the PDGFB/COL1A1 fusion gene.    ///     Dermatofibrosarcoma protuberans is genetically characterized by the translocation t(17;22)(q22;q13) resulting in the PDGFB/COL1A1 fusion gene.     ///    \"In conclusion, the COL1A1/PDGFB fusion gene was present in most of the dermatofibrosarcoma protuberans tissue samples. \"    ///    Identification of t(17;22)(q22;q13) (COL1A1/PDGFB) in dermatofibrosarcoma protuberans by fluorescence in situ hybridization in paraffin-embedded tissue microarrays.. '), ('84', 'RARA_PML', 't(17;20)(q21;q12) / t(15;17)(q22;q21) / t(15;17) / ', 'RARA', 'PML', '16772124', '214', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', ' Acute promyelocytic leukemia (APL) is genetically characterized by a reciprocal translocation between chromosomes 15 and 17, the t(15;17)(q22;q21), which results in the fusion gene PML/RARA. '), ('85', 'NFIB_MYB', 't(6;9)(q22-23;p23-24) / ', 'NFIB', 'MYB', '22015727', '214', 'adenoid cystic carcinoma;breast cancer;breast carcinoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', '', 'Four breast AdCCs were recently shown to harbour the recurrent chromosomal translocation t(6;9)(q22-23;p23-24), which leads to the formation of the MYB-NFIB fusion gene.     ///    \"The presence of the MYB-NFIB fusion gene was investigated in 13 AdCCs of the breast by fluorescence in situ hybridization (FISH) and reverse transcriptase-PCR (RT-PCR), and MYB and BRCA1 RNA expression was determined by quantitative RT-PCR. \"    ///    Our aims were (i) to determine the prevalence of the MYB-NFIB fusion gene in AdCCs of the breast.     ///    The MYB-NFIB fusion gene was detected in all but one AdCC. '), ('86', 'RARA_PML', 't(12;15;17)(q24;q24;q11) / t(15;17)(q22;q21) / t(15;17)(q24;q11) / t(15;17) / ', 'RARA', 'PML', '23292868', '214', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', ' Acute promyelocytic leukemia (APL) is genetically characterized by a reciprocal translocation between chromosomes 15 and 17, t(15;17)(q22;q21), which results in the fusion gene PML-RARA.     ///    A PML/RARA chimeric gene on chromosome 12 in a patient with acute promyelocytic leukemia (M4) associated with a new variant translocation: t(12;15;17)(q24;q24;q11)..     ///    \"This karyotypic interpretation was confirmed by FISH with the use of painting probes of chromosomes 12, 15, and 17 and a PML-RARA dual-color DNA probe. \"    ///    PML-RARA transcripts were not evident on RT-PCR. '), ('87', 'MLL_MLLT11', 't(1;11)  / t(1;11) (q21;q23) / t(1;11)(q21;q23) / ', 'MLL', 'MLLT11', '10025907', '212', 'hematopoietic malignancy\r\r', 'FISH;PCR', '', '', '', '', '', 'KB', '', 'A t(1;11) (q21;q23) resulting in a MLL-AF1q fusion gene has previously been reported.     ///    MLL-AF1q fusion resulting from t(1;11) in acute leukemia..     ///    The MLL-AF1q fusion mRNA was similar to that previously described in one case and involved MLL exon 7 in the other. '), ('88', 'RUNX1_MTG16', 't(16;21)(q24;q22) / del(9)(q22q33) / ', 'RUNX1', 'MTG16', '18656694', '212', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The significant homology between MGT16 and MTG8 suggests that the RUNX1-MTG16 fusion gene induced by the t(16;21)(q24;q22) is a variant of the RUNX1-MTG8 that shares similar activity..     ///    RUNX1-MTG16 fusion gene in acute myeloblastic leukemia with t(16;21)(q24;q22): case report and review of the literature.. '), ('89', 'BCR_ABL1', 't(9;22) / t(9;22)  / ', 'BCR', 'ABL1', '23032829', '212', 'leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Chronic myelogenous leukemia (CML) is characterised by the t(9;22)(q34;q11.2) which results in the formation of the BCR/ABL1 fusion gene.     ///    \"The study group consisted of all patients diagnosed or suspected to have CML who had interphase FISH analysis at presentation on peripheral blood/bone marrow using a commercially available BCR/ABL1 dual colour, dual fusion probe. \"    ///    Fluorescence in situ hybridization patterns of BCR/ABL1 fusion in chronic myelogenous leukemia at diagnosis..     ///    FISH analysis at presentation is used to determine the number of cells with BCR/ABL1 fusion and establish whether the patterns are typical or atypical.     ///    There were 1076 diagnostic samples which were positive for BCR/ABL1 fusion. '), ('90', 'MALT1_API2', 't(11;18)(q21;q21) / ', 'MALT1', 'API2', '20079017', '212', 'MALT lymphoma;B cell lymphoma;lymphoma\r\r', 'FISH ', '', '', '', '', '', '', '', ' To investigate the difference of the prevalence of t(11;18)(q21;q21)/API2-MALT1 fusion gene between gastrointestinal mucosa-associated lymphoid tissue (MALT) lymphoma and diffuse large B cell lymphoma (DLBCL).     ///    API2-MALT1 fusion gene was detected by fluorescent in situ hybridization (FISH) using both dual fusion translocation and break apart probes.     ///    \"The findings suggest that gastrointestinal tract MALT lymphomas with API2-MALT1 fusion gene may not transform into DLBCL, which may represent primary lymphoma or transformed API2-MALT1 negative MALT lymphomas.. \"    ///    \"API2-MALT1 fusion gene is a distinctive genetic aberration in MALT lymphomas, and is not present in DLBCL. \"    ///    [Prevalence of API2-MALT1 fusion gene in gastrointestinal mucosa-associated lymphoid tissue lymphomas and diffuse large B cell lymphomas]..     ///    \"Among gastrointestinal MALT lymphomas, API2-MALT1 fusion gene was found in 12 of 57 cases (21.1%, 10 gastric and 2 intestinal lymphomas). \"'), ('91', 'PAX3_FKHR', 't(2;13)(q35;q14) / t(1;13)(p36;q14) / ', 'PAX3', 'FKHR', '8789435', '209', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', ' In the pediatric cancer alveolar rhabdomyosarcoma, characteristic t(2;13)(q35;q14) or variant t(1;13)(p36;q14) chromosomal translocations generate PAX3-FKHR or PAX7-FKHR fusion genes.     ///    In vivo amplification of the PAX3-FKHR and PAX7-FKHR fusion genes in alveolar rhabdomyosarcoma.. '), ('92', 'PAX7_FKHR', 't(2;13)(q35;q14) / t(1;13)(p36;q14) / ', 'PAX7', 'FKHR', '8789435', '209', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', ' In the pediatric cancer alveolar rhabdomyosarcoma, characteristic t(2;13)(q35;q14) or variant t(1;13)(p36;q14) chromosomal translocations generate PAX3-FKHR or PAX7-FKHR fusion genes.     ///    In vivo amplification of the PAX3-FKHR and PAX7-FKHR fusion genes in alveolar rhabdomyosarcoma.. '), ('93', 'FLI_EWS', 't(11;22)  / ', 'FLI', 'EWS', '10897036', '209', 'bone cancer;giant cell fibroblastoma', 'FISH;PCR ', '', '', '', '', '', '', '', ' The EWS/FLI-1 fusion gene, resulting from a t(11;22) translocation, plays a key role in the pathogenesis of Ewing\'s sarcoma.     ///    Detection of EWS/FLI-1 fusion transcripts in giant-cell tumor of bone provides a model for the study of the transforming mechanisms of the EWS/FLI-1 fusion gene in mesenchymal tumors..     ///    \"We demonstrate the presence of EWS/FLI-1 hybrid transcripts also in giant-cell tumor, a bone neoplasm featuring intermediate characteristics between benign and malignant lesions. \"    ///    Identification of EWS/FLI-1 transcripts in giant-cell tumor of bone.. '), ('94', 'RUNX1_CBFA2T3', 't(16;21)(q24;q22) / ', 'RUNX1', 'CBFA2T3', '19963144', '209', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' The t(16;21)(q24;q22), a rare chromosomal translocation involving chromosome 21 in de novo and therapy-related acute myeloid leukemia (AML), produces a RUNX1-CBFA2T3 fusion gene (previously AML1-MTG16) fusion gene.     ///    \"We confirmed the presence of RUNX1-CBFA2T3 fusion transcripts with reverse transcriptase-polymerase chain reaction, using primers AML1ex5f1 and MTG16r2.. \"'), ('95', 'MAML2_CRTC1', 't(11;19)  / ', 'MAML2', 'CRTC1', '26316332', '208', 'mucoepidermoid carcinoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'The t(11;19) and its CRTC1-MAML2 fusion gene transcript have been identified in mucoepidermoid carcinoma and are associated with a subset of mucoepidermoid carcinomas.     ///    \"The t(11;19) fusion gene transcript CRTC1-MAML2 manifested in 9 intraosseous mucoepidermoid carcinomas, whereas is was not detected in another 9 intraosseous carcinomas. \"    ///    \"Although the incidence of this fusion in mucoepidermoid carcinoma varies, it is generally accepted that more than 50% of this entity manifest the CRTC1-MAML2. \"'), ('96', 'TEL_AML1', 't(12;21)(p12;q22) / t(12;21)  / t(12;21) / ', 'TEL', 'AML1', '8913730', '207', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', ' The recently identified ETV6/CBFA2 (formerly known as TEL/AML1) fusion gene occurs as a result of the t(12;21)(p12;q22).     ///    Correlation between the ETV6/CBFA2 (TEL/AML1) fusion gene and karyotypic abnormalities in children with B-cell precursor acute lymphoblastic leukemia..     ///    \"Of the 7, FISH confirmed the ETV6/CBFA2 fusion in 6. \"    ///    Nine of the 34 patient samples expressed the ETV6/CBFA2 transcript. '), ('97', 'EWS_E1AF', 't(17;22)(q12;q12) / p11.2;q11.2 / ', 'EWS', 'E1AF', '12377409', '207', 'synovial sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'However, we could not detect the EWS-E1AF fusion gene that has been reported to be generated through a t(17;22)(q12;q12) by RT-PCR. ');
INSERT INTO `ChimerPub_dump` VALUES ('98', 'TCF3_PBX1', 't(1;19)  / t(1;19) / ', 'TCF3', 'PBX1', '20302770', '207', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'iFISH combined with CC and RT-PCR can increase the detection rate of t(1;19)/TCF3-PBX1 fusion gene..     ///    \" To explore the morphology, immunophenotype, cytogenetics and clinical features of TCF3-PBX1 fusion gene positive adult acute lymphoblastic leukemia (ALL). \"    ///    \"R banding was used to analyze conventional cytogenetics (CC), interphase fluorescence in situ hybridization (iFISH) and RT-PCR to detect the TCF3-PBX1 fusion gene, and flow cytometry to immunophenotype. \"    ///    \"TCF3-PBX1 fusion gene was detected by RT-PCR in 9 cases, and by iFISH in 17. \"    ///    [A clinical and laboratory study of TCF3-PBX1 positive adult acute lymphoblastic leukemia.].. '), ('99', 'BCR_ABL1', 'inv(9)(p22q34) / t(9;22) / ', 'BCR', 'ABL1', '21156255', '204', 'acute myeloid leukemia;chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'All four patients had two malignant clones: one with only t(9;22)(q34;q11.2) and another with der(9)t(9;22)(q34;q11.2)inv(9)(p22q34) that resulted in the separation of the ABL1/BCR fusion gene.     ///    \"Reverse transcriptase-polymerase chain reaction revealed a b3a2 type of BCR/ABL1 fusion transcript in all of them, proving their disease to be Ph-positive leukemia. \"'), ('100', 'MYH11_CBF', 'inv(16)(p13;q22) / inv(16)  / inv (16)  / ', 'MYH11', 'CBF', '10921098', '204', 'leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', ' To study the clinical significance of inv(16) and CBF beta-MYH11 fusion gene in the diagnosis and prognosis for M4Eo.     ///    [Detection of CBF beta-MYH11 fusion transcript and inv(16)(p13;q22) in acute myelomonocytic leukemia(M4) by RT-PCR and FISH]..     ///    \"CBF beta-MYH11 fusion transcripts and inv (16) were analyzed by reverse-transcriptase polymerase chain reaction(RT-PCR) and fluorescence in situ hybridization(FISH), respectively, in acute myelomonocytic leukemia(M4) with or without eosinophilia. \"    ///    \"In fifteen cases tested, one case of M4Eo and one of 9 M4 without eosinophilia were found to have CBF beta-MYH11 fusion transcript. \"'), ('101', 'MYH11_CBFB', 'inv(16)(p13q22) / inv(16)  / ', 'MYH11', 'CBFB', '17052753', '204', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', '', 'AML with the CBFB/MYH11 fusion gene but without inv(16) was found in M2, M4, and M5, but not in M4E patients.     ///    The CBFB/MYH11 fusion gene was detected in 17 patients (7.6%): eight patients had the inv(16) chromosome and in all of them it was M4E.     ///    \"These results indicate that even if eosinophilia is not found, molecular screening for CBFB/MYH11 fusion gene should be performed in all AML patients at the time of diagnosis to help guide disease management.. \"    ///    Detection of the CBFB/MYH11 fusion gene in de novo acute myeloid leukemia (AML): a single-institution study of 224 Japanese AML patients..     ///    \"In this study, we used RT-PCR and FISH analysis to examine 224 Japanese adult de novo AML patients for the presence of the CBFB/MYH11 fusion transcript at the time of diagnosis. \"'), ('102', 'FUS_DDIT3', 't(12;16)(q13;p11) / ', 'FUS', 'DDIT3', '25650275', '204', 'liposarcoma', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Cytogenetically, MLSLC and ordinary MLS were characterized by t(12;16)(q13;p11) and FUS-DDIT3 fusion gene, whereas WDLS/DDLS lacked the fusion gene but possessed giant marker/ring chromosomes.     ///    \"Both lipoma-like and myxoid components of the same MLSLC exhibited the identical FUS-DDIT3, as confirmed by fluorescence in situ hybridization (FISH) and reverse transcription polymerase chain reaction (RT-PCR).\"    ///    \"Both lipoma-like and myxoid components of the same MLSLC exhibited the identical FUS-DDIT3, as confirmed by fluorescence in situ hybridization (FISH) and reverse transcription polymerase chain reaction (RT-PCR). \"'), ('103', 'MYC_IGH', 't(8;14)(q24;q32) / ', 'MYC', 'IGH', '25501113', '204', 'autoimmune hemolytic anemia;B cell prolymphocytic leukemia;pure red cell aplasia', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'G-banding and fluorescence in situ hybridization using c-MYC and immunoglobulin heavy-chain (IgH) gene probe revealed that leukemia cells carried the t(8;14)(q24;q32)/c-MYC-IgH fusion gene, and breakage and reunion occurred within the non-coding region of c-MYC exon 1 as well as the ? switch region of IgH.     ///    \"The role of t(8;14)(q24;q32)/c-MYC-IgH in the pathogenesis of B-cell prolymphocytic leukemia (B-PLL) may not be identical to that in aggressive lymphoid neoplasms, and, in the present case, autoantibodies targeting both mature red cells and erythroid precursors may have been concurrently produced in the setting of B-PLL. \"'), ('104', 'YWHAE_FAM22B', 't(10;17)(q22;p13) / ', 'YWHAE', 'FAM22B', '24125656', '204', 'endometrial stromal sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', 'KB', '', 'In the course of the procedure of differential diagnoses, we included fluorescence in situ hybridization analysis for detection of a FAM22B-YWHAE fusion gene resulting from t(10;17)(q22;p13), recently reported in a series of endometrial stromal sarcoma, and unexpectedly identified breakages at three loci, i.e. '), ('105', 'NTRK3_ETV6', 't(12;15)(p13;q25) / ', 'NTRK3', 'ETV6', '15101049', '203', 'breast cancer;breast carcinoma;sarcoma\r\r', 'FISH ', 'Kinase', '', '', '', '', 'KB', 'Seq', 'We tested four histologically confirmed cases of SBC for the presence of the ETV6-NTRK3 gene fusion and then applied the FISH assay to tissue microarrays (TMAs) in order to screen 481 cases of formalin-fixed, paraffin-embedded invasive breast carcinomas of various histologic subtypes. '), ('106', 'NUP214_ABL1', 't(9;14)(q34;q32) / ', 'NUP214', 'ABL1', '20073070', '201', 'T ALL\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'These are the NUP214-ABL1 fusion gene, on amplified episomes, the unique case of EML1-ABL1 fusion due to a cryptic t(9;14)(q34;q32) and the seldom reported BCR-ABL1 and ETV6-ABL1 chimeric genes.     ///    The mechanism of activation of the NUP214-ABL1 protein is unique and requires localization at the nucleopore complex and interaction with other nuclear pore proteins for crossphosphorylation and constitutive kinase activity.     ///    \"The most frequent and strictly associated with T-ALL is the NUP214-ABL1 fusion identified in 6% of cases, in both children and adults. \"'), ('107', 'FUS_ATF1', '', 'FUS', 'ATF1', '25804255', '198', 'fibrous histiocytoma;histiocytoma\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Angiomatoid fibrous histiocytoma is associated with recurrent chromosomal translocations, leading to characteristic EWSR1-CREB1, EWSR1-ATF1, and, rarely, FUS-ATF1 gene fusions; fluorescence in situ hybridization (FISH), detecting EWSR1 or FUS rearrangements, and reverse transcription-polymerase chain reaction (RT-PCR) for EWSR1-CREB1 and EWSR1-ATF1 fusion transcripts have become routine ancillary tools.    ///    \"Angiomatoid fibrous histiocytoma is associated with recurrent chromosomal translocations, leading to characteristic EWSR1-CREB1, EWSR1-ATF1, and, rarely, FUS-ATF1 gene fusions. \"'), ('108', 'TEL_AML1', 't(12;21) / t(12;21)  / ', 'TEL', 'AML1', '14990071', '198', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 't(12;21)/TEL-AML1 fusion gene was examined in bone marrow or peripheral blood mononuclear cells from 51 newly diagnosed childhood ALL patients by conventional cytogenetic R-banding analysis (CCA), dual colour interphase fluorescence in situ hybridization (I-FISH), and nested reverse transcriptase-polymerase chain reaction (RT-PCR).     ///    \"21)/TEL-AML1 fusion gene was found in 11 cases by FISH or PCR, accounting for 21.6% and 26.9% in childhood ALLs and in non-T lineage ALL cases, respectively. \"    ///    There was no significant difference in clinical characteristics and short term outcome between the t(12;21) and the TEL-AML1 negative cases. '), ('109', 'TCEA1_PLAG1', 't(6;8)  / t(8;15)  / ', 'TCEA1', 'PLAG1', '16736500', '197', 'pleomorphic adenoma\r\r', 'FISH', '', '', '', '', '', 'KB', '', 'CHCHD7-PLAG1 and TCEA1-PLAG1 gene fusions resulting from cryptic, intrachromosomal 8q rearrangements in pleomorphic salivary gland adenomas.. '), ('110', 'PLAG1_CHCHD7', 't(6;8)  / t(8;15)  / ', 'PLAG1', 'CHCHD7', '16736500', '197', 'pleomorphic adenoma\r\r', 'FISH', '', '', '', '', '', '', '', 'CHCHD7-PLAG1 and TCEA1-PLAG1 gene fusions resulting from cryptic, intrachromosomal 8q rearrangements in pleomorphic salivary gland adenomas..     ///    \"Molecular analyses of 27 tumors revealed CHCHD7-PLAG1 fusions in three tumors, two of which had t(6;8) and t(8;15) translocations as the sole anomalies and one a normal karyotype. \"    ///    \"Molecular analyses of 27 tumors revealed CHCHD7-PLAG1 fusions in three tumors, two of which had t(6;8) and t(8;15) translocations as the sole anomalies and one a normal karyotype.\"    ///    Here we demonstrate that CHCHD7-PLAG1 is a novel and recurrent gene fusion generated by a cytogenetically cryptic rearrangement in pleomorphic adenomas. '), ('111', 'PAX3_FOXO1', 't(2;13)(q35;q14) / ', 'PAX3', 'FOXO1', '26316324', '195', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'This well-described translocation produces the gene fusion product PAX3-FOXO1. '), ('112', 'TEL_AML1', 't(12;21)(p13;q22) / t(12;21)  / ', 'TEL', 'AML1', '12850377', '194', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'The cryptic translocation t(12;21)(p13;q22), which leads to the TEL-AML1 fusion gene, is the most common abnormality in childhood B-cell ALL.     ///    A fluorescence in situ hybridization study of TEL-AML1 fusion gene in B-cell acute lymphoblastic leukemia (1984-2001)..     ///    No TEL-AML1 fusion was observed in the 26 ALL adults.     ///    \"Our results (frequency of TEL-AML1 fusion in children and of the deletion of the untranslocated TEL allele, mean age of the patients and white blood cell count) are within the range observed by others. \"    ///    A deletion of the untranslocated TEL was observed in 36.3% of the ALL with the TEL-AML1 fusion.     ///    The aim of this retrospective study was to determine the incidence of TEL-AML1 fusion in childhood and adult B-cell ALL using interphase fluorescence in situ hybridization (I-FISH) and its association with additional changes.     ///    The coexpression of myelocytic and B-lymphoid antigens was found in 3 of the 11 of TEL-AML1 fusion positive-ALL. '), ('113', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '19647299', '193', 'prostate cancer\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', 'Seq', 'The branched DNA assay detected TMPRSS2-ERG gene fusion from less than 200 pg of prostate cancer RNA, whereas more than 600 pg of RNA was required for fusion gene detection by one step real-time RT-PCR.     ///    Nonquantitative nested reverse transcription (RT)-PCR and fluorescence in situ hybridization (FISH) were used to ascertain TMPRSS2-ERG gene fusion status in prostate tissues.     ///    \" To develop a novel assay that uses branched DNA technology to measure TMPRSS2-ERG fusion, as genetic rearrangement of TMPRSS2 regulatory sequences and coding sequences of the ERG gene has been detected in nearly half of prostate cancers, but quantitative assays to detect such TMPRSS2-ERG gene fusion have been limited to real-time polymerase chain reaction (PCR) techniques that rely on reverse transcriptase-based amplification. \"    ///    \"Our findings demonstrate a branched DNA assay that is effective for detection of TMPRSS2-ERG gene fusion in prostate cancer clinical specimens, thus providing an alternative method to ascertain TMPRSS2-ERG gene fusion in human prostate cancer tissue.. \"    ///    Branched DNA probes were designed to detect TMPRSS2-ERG gene fusion in prostate cancer cell lines.     ///    \"To develop a novel assay that uses branched DNA technology to measure TMPRSS2-ERG fusion, as genetic rearrangement of TMPRSS2 regulatory sequences and coding sequences of the ERG gene has been detected in nearly half of prostate cancers, but quantitative assays to detect such TMPRSS2-ERG gene fusion have been limited to real-time polymerase chain reaction (PCR) techniques that rely on reverse transcriptase-based amplification.\"'), ('114', 'PBX1_EWSR1', '', 'PBX1', 'EWSR1', '25693574', '192', 'epithelioid sarcoma', 'FISH ', '', '', '', '', 'Transcription_Factor', '', '', 'The EWSR1 gene rearrangement was detected by fluorescence in situ hybridization (FISH), but molecular biology failed to detect EWSR1/ETS, EWSR1/NR4A3, EWSR1/DDIT3, EWSR1/ATF1, EWSR1-POU5F1, EWSR1/ZNF444, EWSR1-PBX1 gene fusions. '), ('115', 'ZNF444_EWSR1', '', 'ZNF444', 'EWSR1', '25693574', '192', 'epithelioid sarcoma', 'FISH ', '', '', '', '', '', '', '', 'The EWSR1 gene rearrangement was detected by fluorescence in situ hybridization (FISH), but molecular biology failed to detect EWSR1/ETS, EWSR1/NR4A3, EWSR1/DDIT3, EWSR1/ATF1, EWSR1-POU5F1, EWSR1/ZNF444, EWSR1-PBX1 gene fusions. '), ('116', 'JJAZ1_JAZF1', 't(7;17)(p15;q21) / t(7;17)(p15;q12) / ', 'JJAZ1', 'JAZF1', '17667554', '191', 'endometrial stromal sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'High frequency of JAZF1-JJAZ1 gene fusion in endometrial stromal tumors with smooth muscle differentiation by interphase FISH detection.. '), ('117', 'EWS_ERG', 't(21;22) / t(11;22)(q23;q12) / t(21;22)(q22;q12) / t(7;22)(p22;q12) / ', 'EWS', 'ERG', '15899394', '190', 'ewing sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'This finding suggests that the insertion of chromosome 21 is another mechanism that could lead to EWS-ERG gene fusion. '), ('118', 'RARA_PML', 't(15;17)(q22;q11) / t(1;9)(q25;q34) / t(9;17;15)(q34;q11;q22) / t(15;17)  / ', 'RARA', 'PML', '9096691', '188', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Variant complex translocations involving chromosomes 1, 9, 9, 15 and 17 in acute promyelocytic leukemia without RAR alpha/PML gene fusion rearrangement..     ///    \" Acute promyelocytic leukemia (APL;M3) is specifically characterized by a predominance of malignant promyelocytes having atypical reciprocal translocation involving chromosome 15 and 17 [t(15;17)(q22;q11)] resulting in the fusion of retinoic acid receptor alpha (RAR alpha) on chromosome 17 and the putative transcription factor gene PML, ie the translocation generates two fusion transcripts, PML/RAR alpha and RAR alpha/PML. \"    ///    \"However, chromosome 15q including the PML gene normally translocating to 17q and creating the RAR alpha/PML fusion gene, translocated to chromosome 9q. \"'), ('119', 'CLTC_ALK', '', 'CLTC', 'ALK', '24583837', '188', '', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Spindle tumor cells expressed ALK with a cytoplasmic granular distribution, the CLTC-ALK fusion gene was demonstrated by reverse-transcriptase polymerase chain reaction analysis, and break-apart fluorescence in situ hybridization (FISH) probes for the ALK gene showed a pathological pattern (single red signal associated with 1/2 normal fused signals) highly suggestive for combined gene fusion and deletion. '), ('120', 'NUT_BRD4', 't(15;19)  / t(15;19) / ', 'NUT', 'BRD4', '16542442', '186', 'ewing sarcoma;sarcoma\r\r', 'FISH;PCR', 'Kinase', '', '', '', '', 'KB', '', 'Pathological, cytogenetic, FISH and PCR analysis revealed a glycogenated carcinoma rarely expressing cytokeratins and showing t(15;19) and BRD4-NUT gene rearrangement.     ///    Midline carcinoma with t(15;19) and BRD4-NUT fusion oncogene in a 30-year-old female with response to docetaxel and radiotherapy..     ///    The t(15;19) results in the fusion oncogene BRD4-NUT.     ///    \"We herein describe, in detail, the laboratory methods by which the BRD4-NUT -rearrangement can be detected.. \"'), ('121', 'RUNX1_ETV6', 't(14;20)  / t(7;11)(q35;q24) / t(1;14)(p32;q32) / t(7;11)  / ', 'RUNX1', 'ETV6', '16154840', '186', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Finally, we also observed cryptic insertions of AF4 and ETV6 in combination with complex rearrangements, leading to MLL/AF4 and ETV6/RUNX1 gene fusions. '), ('122', 'MLL_AF4', 't(14;20)  / t(7;11)(q35;q24) / t(1;14)(p32;q32) / t(7;11)  / ', 'MLL', 'AF4', '16154840', '186', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Finally, we also observed cryptic insertions of AF4 and ETV6 in combination with complex rearrangements, leading to MLL/AF4 and ETV6/RUNX1 gene fusions. '), ('123', 'RUNX1T1_RUNX1', 't(8;21) / t(8;21)  / ', 'RUNX1T1', 'RUNX1', '20046081', '183', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'In this case report, FISH analysis detected RUNX1-RUNX1T1 gene rearrangement in the absence of cytogenetic abnormality of t(8;21), which suggests the presence of unvailed t(8;21).     ///    [Near-tetraploidy acute myeloid leukemia with RUNX1-RUNX1T1 rearrangement due to cryptic t(8;21)]..     ///    This is the first case report of tetraploidy or near-tetraploidy AML with cryptic RUNX1/RUNX1T1 in Korea. '), ('124', 'TEL_AML1', 't(12;21)(p13;q22) / t(12;21) / t(12;21)  / ', 'TEL', 'AML1', '10451708', '182', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', ' TEL/AML1 gene fusion is the most frequent genetic lesion in pediatric acute lymphoblastic leukemia (ALL).     ///    Trisomy 21 is a recurrent secondary aberration in childhood acute lymphoblastic leukemia with TEL/AML1 gene fusion..     ///    \"In a cohort of 50 RT-PCR-positive TEL/AML1 patients, karyotype examination by GTG banding and fluorescence in situ hybridization (FISH) allowed us to identify chromosome anomalies in addition to the already existing t(12;21). \"'), ('125', 'RUNX1_ETV6', 't(12;21) / t(3;12)  / t(12;21)  / ', 'RUNX1', 'ETV6', '20049174', '182', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Finally, our findings confirm that additional or secondary genetic changes are commonly encountered in pediatric B-lineage ALL with ETV6-RUNX1 gene fusion which is envisaged to play a pivotal role in disease progression..     ///    This translocation leads ETV6-RUNX1 (previously TEL-AML1) fusion gene.     ///    16 patients (28%) had ETV6-RUNX1 rearrangement.     ///    ETV6-RUNX1 Rearrangement in Tunisian Pediatric B-Lineage Acute Lymphoblastic Leukemia..     ///    Seven patients without ETV6-RUNX1 rearrangement showed extra signals of the RUNX1 gene. '), ('126', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '24777847', '182', 'small cell carcinoma;prostate cancer;adenocarcinoma\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'Of 61 cases of PSCC, 51% (31/61) demonstrated increased AR gene copy number (FISH+), 54% (33/61) were positive for TMPRSS2-ERG gene fusion, and 38% (23/61) showed AR protein expression.     ///    \"Of the 31 AR FISH+ cases, 23 also showed TMPRSS2-ERG gene fusion, and 16 expressed AR protein. \"    ///    \"Statistically significant correlations were observed between AR gene copy number or AR protein expression and TMPRSS2-ERG gene fusion (P?=?0.001 and P?=?0.03, respectively). \"    ///    The TMPRSS2-ERG gene rearrangement is highly specific for prostate cancer and shared by PSCC.     ///    Sixty-one cases of PSCC were examined for AR gene copy number and TMPRSS2-ERG rearrangement by fluorescence in situ hybridization (FISH) and AR protein expression by immunohistochemistry.     ///    \"however, the role of androgen receptor (AR) gene alterations and interaction with TMPRSS2-ERG rearrangement are incompletely understood in PSCC. \"    ///    Increased androgen receptor gene copy number is associated with TMPRSS2-ERG rearrangement in prostatic small cell carcinoma..     ///    \"In summary, high AR gene copy number emerges during the development of PSCC, often in association with TMPRSS2-ERG rearrangement. \"'), ('127', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '25175909', '182', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'These results demonstrate the ability of confocal microscopy and FISH to identify the cell-to-cell differences in common gene fusions such as TMPRSS2-ERG that may arise independently within the same tumor focus. '), ('128', 'FLI_EWS', '', 'FLI', 'EWS', '15354743', '182', 'ewing sarcoma;neuroectodermal tumor;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'The diagnosis in these 2 cases was confirmed by the FISH demonstration of EWS/FLI-1 gene fusion in paraffin-embedded tissue. '), ('129', 'NTRK3_ETV6', 't(12;15)(p13;q25) / ', 'NTRK3', 'ETV6', '26291510', '180', 'breast carcinoma', 'FISH ', 'Kinase', '', '', '', '', 'KB', 'Seq', 'All interpretable cases harbored an ETV6-NTRK3 gene fusion by reverse transcription polymerase chain reaction and/or an ETV6 rearrangement by fluorescence in situ hybridization, with duplication of the oncogenic derivative in 2 cases.     ///    \"Histologic and immunohistochemical analyses, fluorescence in situ hybridization using break-apart probes specific to ETV6 on 12p13, reverse transcription polymerase chain reaction with in-house probes specific to the ETV6-NTRK3 gene fusion, and DNA copy number variation by array comparative genomic hybridization analyses were performed on all cases. \"    ///    Secretory Breast Carcinoma: A Histopathologic and Genomic Spectrum Characterized by a Joint Specific ETV6-NTRK3 Gene Fusion..     ///    \"The 2 cases with ETV6-NTRK3 duplication included a gain of 12p starting from the ETV6 locus to the telomere, associated with a gain of the 15q from the centromere to NTRK3 in 1 case, and in the other a normal profile up to NTRK3 on 15q, and then a loss up to the telomere, suggesting loss of corresponding normal chromosome 15. \"'), ('130', 'WWTR1_CAMTA1', '', 'WWTR1', 'CAMTA1', '26840265', '180', 'epithelioid hemangioendothelioma', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', '', '', 'Interestingly, we observed CAMTA1 gene break-apart in all of the five TFE3-positive EHEs via FISH assays, and four out of the five TFE3-positive EHEs exhibited WWTR1-CAMTA1 gene fusions via RT-PCR.     ///    \"EHEs have been characterized by tumor-specific WW domain-containing transcription regulator 1(WWTR1)-calmodulin-binding transcription activator 1 (CAMTA1) translocations, and recently, a novel Yes-associated protein 1 (YAP1)-transcription factor E3 (TFE3) gene fusion was identified in EHEs. \"'), ('131', 'CIC_FOXO4', 't(X;19)(q13;q13.3) / / ', 'CIC', 'FOXO4', '25007147', '179', 'ewing sarcoma;desmoplastic small round cell tumor;sarcoma\r\r', 'FISH ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', '', 'Here we identified a novel gene fusion, CIC-FOXO4, in a case of Ewing-like sarcoma with a t(X;19)(q13;q13.3) translocation.    ///    \"Here we identified a novel gene fusion, CIC-FOXO4, in a case of Ewing-like sarcoma with a t(X;19)(q13;q13.3) translocation. \"    ///    A novel CIC-FOXO4 gene fusion in undifferentiated small round cell sarcoma: a genetically distinct variant of Ewing-like sarcoma..     ///    \"Aside from the desmoplastic stroma, the CIC-FOXO4 fusion sarcoma showed morphologic and immunohistochemical similarity to ESFT and Ewing-like sarcomas, including the recently described CIC-DUX4 fusion sarcoma. \"    ///    \"Although clinicopathologic analysis with additional cases is necessary, we conclude that CIC-FOXO4 fusion sarcoma is a new type of Ewing-like sarcoma that has a specific genetic signature. \"'), ('132', 'MLT_API2', '', 'MLT', 'API2', '11763310', '179', 'primary macroglobulinemia', 'FISH ', '', '', '', '', '', '', '', 'Direct visualization using dual-color FISH on samples serves as a molecular tool for management of MALT-type lymphoma with API2/MLT gene fusion..     ///    Reverse transcriptase-polymerase chain reaction analysis showed the API2/MLT gene fusion in 9 of 10 cases. '), ('133', 'NCOA2_HEY1', 't(1;5)(q42;q32) / t(1;5)  / ', 'NCOA2', 'HEY1', '23185413', '178', 'chondrosarcoma;sarcoma\r\r', 'FISH', '', '', '', '', 'Transcription_Factor', '', '', 'In our hospital\'s archives three more cases of MC were found, and we examined them looking for the supposedly more common HEY1-NCOA2 fusion, finding it in all three tumours but not in the case showing t(1;5) and IRF2BP2-CDX1 gene fusion.     ///    Using a purely molecular genetic approach a HEY1-NCOA2 fusion gene was recently detected in 10 of 15 investigated MCs. '), ('134', 'JJAZ1_JAZF1', 't(7;17)(p15;q21) / t(7;17) / t(6;7)(p21;p15) / ', 'JJAZ1', 'JAZF1', '17197920', '177', 'endometrial stromal sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Molecular analysis of the JAZF1-JJAZ1 gene fusion by RT-PCR and fluorescence in situ hybridization in endometrial stromal neoplasms..     ///    \"Our data suggest that the JAZF1-JJAZ1 fusion is a frequent, although nonuniform, feature of endometrial stromal neoplasia, irrespective of benign versus malignant classification and smooth muscle differentiation. \"    ///    \"Overall, evidence for the JAZF1-JJAZ1 fusion was found in 60% of endometrial stromal neoplasms analyzed (8/16 ESS and 4/4 stromal nodules). \"    ///    \"Overall, evidence for the JAZF1-JJAZ1 fusion was found in 60% of endometrial stromal neoplasms analyzed (8/16 ESS and 4/4 stromal nodules).\"'), ('135', 'NTRK3_ETV6', '', 'NTRK3', 'ETV6', '27020209', '177', 'mesoblastic nephroma', 'FISH ', 'Kinase', '', '', '', '', 'KB', 'Seq', 'Fluorescence in situ hybridisation (FISH) testing for ETV6-NTRK3 gene fusion/rearrangement revealed further differentiation between the subtypes with ETV6-NTRK3 gene fusion detected in 0/5 of the classic MN, 8/8 of the cellular MN and 5/6 of the mixed MN cohorts, respectively. '), ('136', 'WWTR1_CAMTA1', 't(1;3) / p36.3;q25 / 1p36.3 / ', 'WWTR1', 'CAMTA1', '21584898', '177', 'angiosarcoma', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', '', '', 'A novel WWTR1-CAMTA1 gene fusion is a consistent abnormality in epithelioid hemangioendothelioma of different anatomic sites..     ///    \"Thus, FISH or RT-PCR analysis for the presence of WWTR1-CAMTA1 fusion may serve as a useful molecular diagnostic tool in challenging diagnoses.. \"    ///    Subsequent reverse transcription-polymerase chain reaction (RT-PCR) confirmed in three EHE the WWTR1-CAMTA1 fusion product.     ///    \"Our results demonstrate the presence of a WWTR1-CAMTA1 fusion in all EHE tested from bone, soft tissue, and visceral location (liver, lung) in keeping with a unique and specific pathological entity. \"'), ('137', 'MECT1_MAML2', 't(11;19)(q21;p13) / ', 'MECT1', 'MAML2', '22847156', '177', 'acinic cell carcinoma;basal cell adenocarcinoma;papillary cystadenocarcinomas', 'FISH ', '', '', '', '', '', '', '', 'It is concluded that MECT1-MAML2 gene fusion is a highly specific genetic alteration in MEC with predominance in low-grade and intermediate-grade tumors.. '), ('138', 'TMPRSS2_ETV1', '7p21.3 / ', 'TMPRSS2', 'ETV1', '17259299', '174', 'prostate cancer\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2:ETV1 gene fusions were not detected in any of the cases tested. '), ('139', 'TMPRSS2_ERG', '7p21.3 / ', 'TMPRSS2', 'ERG', '17259299', '174', 'prostate cancer\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', 'Seq', 'Frequency of the TMPRSS2:ERG gene fusion is increased in moderate to poorly differentiated prostate cancers..     ///    This study indicates that TMPRSS2:ERG gene rearrangements in CaP may be used as a diagnostic tool to identify prognostically relevant sub-classifications of these cancers.. '), ('140', 'PDGFB_COL1A1', 't(17;22) / ', 'PDGFB', 'COL1A1', '17337387', '174', 'Bednar tumor;giant cell fibroblastoma', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', '', 'KB', '', 'The COL1A1-PDGFB fusion gene is detectable either by multiplex RT-PCR with a combination of forward primers designed from a variety of COL1A1 exons and one reverse primer for PDGFB exon 2, or by in situ fluorescence hybridization (FISH) on interphase nuclei from frozen or fixed paraffin-embbeded sections.     ///    These chromosomal rearrangements lead to the formation of a specific fusion gene : COL1A1-PDGFB detected in rings as well as in translocations.     ///    \"So far, the COL1A1-PDGFB fusion gene remains the only fusion gene identified in this tumor. \"    ///    \"The COL1A1-PDGFB fusion gene is not found in approximately 8% of DP cases, suggesting that genes other than COL1A1 or PDGFB might be involved in a small subset of cases. \"'), ('141', 'WIF1_HMGA2', '2p16.1 / 1p21.3 / ', 'WIF1', 'HMGA2', '18828159', '174', 'pleomorphic adenoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Five tumors had cryptic HMGA2-WIF1 gene fusions with amplification of the fusion oncogene in four tumors. '), ('142', 'MLLT3_MLL', 't(9;11)(p21;q13) / ', 'MLLT3', 'MLL', '18474298', '174', 'leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', '', '', 'Seq', 'MLL insertion with MLL-MLLT3 gene fusion in acute leukemia: case report and review of the literature..     ///    Genomic polymerase chain reaction confirmed the MLL-MLLT3 gene fusion. '), ('143', 'PAX3_FOXO1A', 't(2;13)(q35;q14) / t(1;13)(q36;q14) / / ', 'PAX3', 'FOXO1A', '17350470', '173', 'rhabdomyosarcoma', 'FISH ', '', '', '', '', '', '', '', 'In contrast, a t(2;13)(q35;q14) or t(1;13)(q36;q14) corresponding to PAX3-FOXO1A (previously FKHR) and PAX7-FOXO1A gene fusions are considered tumor-specific anomalies for alveolar RMS (ARMS).    ///    \"In contrast, a t(2;13)(q35;q14) or t(1;13)(q36;q14) corresponding to PAX3-FOXO1A (previously FKHR) and PAX7-FOXO1A gene fusions are considered tumor-specific anomalies for alveolar RMS (ARMS). \"    ///    \"Subsequent analyses showed tumor cells to be negative for FOXO1A, PAX3, or PAX7 gene locus rearrangements (by fluorescence in situ hybridization) and also negative for PAX3-FOXO1A and PAX7-FOXO1A fusion transcripts (by reverse transcriptase-polymerase chain reaction). \"'), ('144', 'PAX3_FOXO1', 't(2;13)(q35;q14) / t(1;13)(p36;q14) / / ', 'PAX3', 'FOXO1', '18303411', '173', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'Chromosomal translocations of t(2;13)(q35;q14) and t(1;13)(p36;q14), resulting in PAX3-FOXO1 (FKHR) and PAX7-FOXO1 (FKHR) gene fusions, have been found to be specific molecular markers for alveolar rhabdomyosarcomas (ARMS) and can be identified in approximately 80% cases.    ///    A home-brew RT-PCR that could detect both PAX3-FOXO1 and PAX7-FOXO1 was also performed. '), ('145', 'PAX8_PPARG', '', 'PAX8', 'PPARG', '15256783', '173', 'goiter', 'FISH;PCR;RT-PCR ', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Furthermore, none of the 6 FTCs, one follicular adenoma or one normal thyroid analyzed by fluorescence in situ hybridization (FISH) exhibited Pax8-PPAR gamma gene fusion.     ///    p25) translocation resulting in the expression of the Pax8-PPAR gamma fusion gene in patients with thyroid follicular carcinoma (FTC) occurs with high incidence (63%).     ///    p25) translocation generating Pax8-PPAR gamma fusion mRNA?.     ///    Pax8-PPAR gamma fusion mRNA was not detected in any FTC samples nor in the other samples.     ///    \"In these carcinoma samples, the expression of mRNAs for the Pax8-PPAR gamma fusion product was analyzed by nested RT-PCR. \"'), ('146', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '19151660', '173', 'adenocarcinoma\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'The TMPRSS2-ERG gene fusion was also rare in the acinar component of mixed ductal-acinar tumors when compared with the pure acinar adenocarcinoma controls (5 vs 45%, P=0.001, Fisher\'s exact test).     ///    \"Compared with the matched acinar adenocarcinoma cases, the TMPRSS2-ERG gene fusion was significantly less frequently observed in ductal adenocarcinoma (45 vs 11% of cases, P=0.002, Fisher\'s exact test). \"    ///    \"We studied the occurrence of the TMPRSS2-ERG gene fusion, in 40 surgically resected ductal adenocarcinoma cases, and in their associated acinar component using fluorescence in situ hybridization. \"    ///    TMPRSS2-ERG gene fusions are infrequent in prostatic ductal adenocarcinomas..     ///    The presence of the TMPRSS2-ERG gene fusion in some cases of prostatic ductal adenocarcinoma supports the concept that ductal adenocarcinoma and acinar adenocarcinoma may be related genetically.     ///    \"In 95% of the ductal adenocarcinoma cases in which a concurrent acinar component was analyzed, there was concordance for presence/absence of the TMPRSS2-ERG gene fusion between the different histologic subtypes. \"'), ('147', 'RET_ELKS', '12p13.3 / ', 'RET', 'ELKS', '10697956', '173', '', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'The ELKS-RET gene fusion rearrangement we had observed in a papillary thyroid carcinoma occurred between intron 10 of the ELKS gene and intron 11 of RET.. '), ('148', 'FUS_ERG', 't(16;21)(p11;q22) / t(16;21)  / t(16;21) / ', 'FUS', 'ERG', '12907633', '172', 'ewing sarcoma', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'FUS/ERG gene fusions in Ewing\'s tumors..     ///    \"In two of our Ewing\'s tumor cases, we were able to show at the sequence level that the translocation between chromosomes 16 and 21 similarly results in a FUS/ERG fusion. \"'), ('149', 'YAP1_MAML2', '', 'YAP1', 'MAML2', '24214394', '172', '', 'FISH ', '', '', '', '', 'Transcription_Factor', '', '', 'Our approach identified three in-frame gene fusions (YAP1-MAML2, PTPLB-RSRC1, and SP3-PTK2) that had strong levels of expression in corresponding NPC tissues.     ///    \"We found two cases of a novel type of structural variant, which we call \"\"coupled inversion,\"\" one of which produced the YAP1-MAML2 fusion. \"'), ('150', 'RSRC1_PTPLB', '', 'RSRC1', 'PTPLB', '24214394', '172', '', 'FISH ', '', '', '', '', '', '', '', 'Our approach identified three in-frame gene fusions (YAP1-MAML2, PTPLB-RSRC1, and SP3-PTK2) that had strong levels of expression in corresponding NPC tissues. '), ('151', 'ZNF198_FGFR1', 't(8;13)  / ', 'ZNF198', 'FGFR1', '17321332', '172', 'myeloproliferative disorder\r\r', 'FISH ', 'Kinase', '', '', '', '', 'KB', '', 'Combined translocation with ZNF198-FGFR1 gene fusion and deletion of potential tumor suppressors in a myeloproliferative disorder..     ///    \"By using fluorescence in situ hybridization with BAC clones, we mapped a deletion of about 2 megabases on the derivative chromosome 8, including the reciprocal FGFR1-ZNF198 fusion gene and the surrounding genes from 8p11 and 13q12. \"    ///    We report here a case of t(8;13) generating a ZNF198-FGFR1 fusion kinase gene on the derivative chromosome 13.     ///    \"ZNF198-FGFR1 mRNA, but not FGFR1-ZNF198, was detected by polymerase chain reaction amplification. \"'), ('152', 'TFE3_ASPSCR1', 'p11.2;q25 / ', 'TFE3', 'ASPSCR1', '17543078', '171', 'AIDS;alveolar soft part sarcoma', 'FISH ', '', 'Oncogene', '', '', '', 'KB', '', 'Detection of the ASPSCR1-TFE3 gene fusion in paraffin-embedded alveolar soft part sarcomas..     ///    Molecular confirmation of ASPSCR1-TFE3 gene fusion is applicable to routinely processed archival and diagnostic tumour samples and aids in the differential diagnosis of ASPS..     ///    The presence of the resulting ASPSCR1-TFE3 fusion transcripts was assessed by reverse transcriptase-polymerase chain reaction.     ///    \"In addition to wild-type TFE3, ASPSCR1-TFE3 fusion transcripts (three type 1 and two type 2 transcripts) were detected in all cases. \"'), ('153', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '19029822', '171', 'prostate cancer\r\r', 'FISH', '', '', '', '', '', 'KB', 'Seq', ' TMPRSS2-ERG gene fusion was recently reported as the most common gene rearrangement in prostate cancer (PCA).     ///    The TMPRSS2-ERG gene fusion status was homogenous within the same cancer focus and 82% of fusion positive PCA were present in GS 6 or 7 vs.     ///    \"We sought to characterize the incidence, pathological features and clinical parameters of TMPRSS2-ERG gene fusion in a cohort of 196 Canadian men treated by radical prostatectomy for localized PCA, and to investigate its potential as a biomarker in PCA. \"    ///    Using break-apart FISH assay to indirectly assess the fusion of TMPRSS2-ERG.     ///    \"If confirmed, this could have significant clinical impact in further stratifying patients with PCA should the TMPRSS2-ERG be confirmed as a prognostic biomarker.. \"    ///    The higher association of TMPRSS2-ERG with Gleason score 6 and 7 should be further investigated. '), ('154', 'EML4_ALK', '', 'EML4', 'ALK', '27043019', '171', 'non small cell lung cancer;lung cancer\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'NSCLC patients may carry a nonreciprocal translocation on human chromosome 2, in which synchronized double stranded breaks (DSB) within the echinoderm microtubule-associated protein-like 4 (EML4) gene and ALK lead to an inversion of genetic material that forms the non-natural gene fusion EML4-ALK encoding a constitutively active tyrosine kinase that is associated with 3 to 7% of all NSCLCs. '), ('155', 'EML4_ALK', '', 'EML4', 'ALK', '25676400', '170', 'non small cell lung cancer;lung cancer\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The application of IHC, ARMS fluorescence quantitative PCR and FISH technology can make a rapid and accurate evaluation of EML4-ALK gene fusion..     ///    \"EML4-ALK gene fusion in 85 cases of paraffin embedded tumor tissue and adjacent lung tissue was detected with the application of immunohistochemistry (IHC), Scorpions amplification refractory mutation system (Scorpions ARMS) fluorescence quantitative PCR and fluorescence in situ hybridization (FISH) technology, and EGFR gene in 18, 19, 20 and 21 exon mutation status was detected with the application of ARMS method. \"    ///    [Analysis of EML4-ALK gene fusion mutation in patients ?with non-small cell lung cancer].    ///    \" Non-small cell lung cancer (NSCLC) is the main type of lung cancer, and the related locus mutation detection research has become a hot direction of molecular targeted therapy, studying on gene mutation status of echinodem microtubule associated protein like 4-Anaplastic lymphoma kinase (EML4-ALK) and epidermal growth factor receptor (EGFR), detecting the sensitivity of EML4-ALK gene fusion and gene mutation of EGFR. \"    ///    [Analysis of EML4-ALK gene fusion mutation in patients ?with non-small cell lung cancer]..     ///    \"While FISH showed 23 cases with EML4-ALK fusion gene mutation, the detection rate was 20%, slightly lower than the ARMS detection results, suggesting that ARMS more sensitive. \"    ///    \"ARMS showed 27 cases with EML4-ALK fusion gene mutation, the mutation detection rate was 23.5%. \"'), ('156', 'MLL_ENL', '', 'MLL', 'ENL', '8527389', '170', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Additionally, this report provides the first conclusive evidence of an MLL/ENL gene fusion characterized at a molecular level in a patient with T-cell ALL.. '), ('157', 'RANBP2_ALK', 'inv(2)(p23q13) / ', 'RANBP2', 'ALK', '24307515', '170', 'myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'inv(2)(p23q13)/RAN-binding protein 2 (RANBP2)-ALK fusion gene in myeloid leukemia that developed in an elderly woman..     ///    RAN-binding protein 2 (RANBP2)-ALK fusion mRNA was confirmed by reverse transcriptase-mediated polymerase chain reaction and nucleotide sequencing. '), ('158', 'SYT_SSX', '', 'SYT', 'SSX', '20512480', '170', 'chordoma', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'fluorescence in situ hybridization (FISH) with a dual-color DNA probe (7q31) for MET amplification was performed on TMA sections and RT-PCR for PAX3-FKHR, ASPL-TFE3 (type 1 + 2), and SYT-SSX (type 1 + 2) gene fusions on punch biopsies.     ///    \"PAX3-FKHR, ASPL-TFE3, or SYT-SSX gene fusions were not demonstrable (n = 52). \"    ///    \"Furthermore, tumors were screened for gene fusions (PAX3-FKHR, ASPL-TFE3, and SYT-SSX) previously shown to be associated with MET activation in sarcomas. \"'), ('159', 'RARA_PML', 't(15;17)  / t(15;17)(q22;q21) / ', 'RARA', 'PML', '12935927', '170', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'This method uses a commercially available product with two different colored fluorescent probes to detect both PML/RARA gene fusion products (double fusion signal or dual-color fluorescence in situ hybridization [D-FISH]). '), ('160', 'EWSR1_ATF1', 't(12;16)(q13;p11) / t(12;22)(q13;q12) / t(2;22)(q33;q12) / / ', 'EWSR1', 'ATF1', '19801966', '169', 'ewing sarcoma;histiocytoma;neuroectodermal tumor', 'FISH ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Angiomatoid fibrous histiocytoma has been found to harbor three related translocations, a t(12;16)(q13;p11) resulting in a FUS/ATF1 fusion gene, t(12;22)(q13;q12) resulting in a EWSR1/ATF1 fusion, and t(2;22)(q33;q12) resulting in a EWSR1/CREB1 fusion.    ///    \"Angiomatoid fibrous histiocytoma has been found to harbor three related translocations, a t(12;16)(q13;p11) resulting in a FUS/ATF1 fusion gene, t(12;22)(q13;q12) resulting in a EWSR1/ATF1 fusion, and t(2;22)(q33;q12) resulting in a EWSR1/CREB1 fusion. \"'), ('161', 'MAML2_CRTC3', 't(11;19)  / t(11;15)  / ', 'MAML2', 'CRTC3', '24121173', '169', 'pleomorphic adenoma;mucoepidermoid carcinoma\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', '', '', 'In contrast to low-grade MEC, neither metaplastic WTs nor metaplastic PAs harbored translocations t(11;19) and anticipated t(11;15) resulting in CRTC1-MAML2 and CRTC3-MAML2 fusion transcripts, respectively, and/or MAML2 gene rearrangement..     ///    \" The recurrent translocations t(11;19) and t(11;15) resulting in CRTC1-MAML2 or CRTC3-MAML2 fusion oncogenes, respectively, are identified in a large proportion of mucoepidermoid carcinomas (MECs) of the salivary gland and have impact on prognosis. \"    ///    \"None of 16 analyzed metaplastic WTs showed positivity for fusion transcripts CRTC1-MAML2 or CRTC3-MAML2, and none showed rearrangement of the MAML2 gene by FISH. \"    ///    \"Detection of CRTC1-MAML2 and CRTC3-MAML2 fusion transcripts and MAML2 gene break was performed using nested reverse transcription-polymerase chain reaction and fluorescence in situ hybridization (FISH), respectively. \"    ///    \"CRTC1-MAML2 and CRTC3-MAML2 fusion transcripts were detected in 17 and 5 cases, respectively. \"    ///    \"CRTC1-MAML2 and CRTC3-MAML2 fusion transcripts were detected in 17 and 5 cases, respectively.\"    ///    CRTC1-MAML2 and CRTC3-MAML2 fusions were not detected in metaplastic Warthin tumor and metaplastic pleomorphic adenoma of salivary glands.. '), ('162', 'MAML2_CRTC1', 't(11;19)  / t(11;15)  / ', 'MAML2', 'CRTC1', '24121173', '169', 'pleomorphic adenoma;mucoepidermoid carcinoma\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'In contrast to low-grade MEC, neither metaplastic WTs nor metaplastic PAs harbored translocations t(11;19) and anticipated t(11;15) resulting in CRTC1-MAML2 and CRTC3-MAML2 fusion transcripts, respectively, and/or MAML2 gene rearrangement..     ///    \" The recurrent translocations t(11;19) and t(11;15) resulting in CRTC1-MAML2 or CRTC3-MAML2 fusion oncogenes, respectively, are identified in a large proportion of mucoepidermoid carcinomas (MECs) of the salivary gland and have impact on prognosis. \"    ///    \"None of 16 analyzed metaplastic WTs showed positivity for fusion transcripts CRTC1-MAML2 or CRTC3-MAML2, and none showed rearrangement of the MAML2 gene by FISH. \"    ///    \"Detection of CRTC1-MAML2 and CRTC3-MAML2 fusion transcripts and MAML2 gene break was performed using nested reverse transcription-polymerase chain reaction and fluorescence in situ hybridization (FISH), respectively. \"    ///    \"None of 16 analyzed metaplastic WTs showed positivity for fusion transcripts CRTC1-MAML2 or CRTC3-MAML2, and none showed rearrangement of the MAML2 gene by FISH.\"    ///    \"CRTC1-MAML2 and CRTC3-MAML2 fusion transcripts were detected in 17 and 5 cases, respectively. \"    ///    CRTC1-MAML2 and CRTC3-MAML2 fusions were not detected in metaplastic Warthin tumor and metaplastic pleomorphic adenoma of salivary glands.. '), ('163', 'EWSR1_CREB1', 't(12;16)(q13;p11) / t(12;22)(q13;q12) / t(2;22)(q33;q12) / ', 'EWSR1', 'CREB1', '19801966', '169', 'ewing sarcoma;histiocytoma;neuroectodermal tumor', 'FISH ', '', '', '', '', 'Transcription_Factor', 'KB', '', 'Angiomatoid fibrous histiocytoma has been found to harbor three related translocations, a t(12;16)(q13;p11) resulting in a FUS/ATF1 fusion gene, t(12;22)(q13;q12) resulting in a EWSR1/ATF1 fusion, and t(2;22)(q33;q12) resulting in a EWSR1/CREB1 fusion. '), ('164', 'SYT_SSX2', 'p11.2;q11.2 / ', 'SYT', 'SSX2', '10398111', '168', 'synovial sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', ' Identification of the t(X;18)(p11.2;q11.2) and the fusion gene products, SYT-SSX1 and SYT-SSX2, associated with a high proportion of synovial sarcomas, has been shown to be a useful diagnostic aid. '), ('165', 'ETV6_ABL1', 't(9;12)  / ', 'ETV6', 'ABL1', '11964320', '168', 'acute myeloid leukemia;chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Detailed FISH analysis identified a cryptic t(9;12) translocation, and molecular studies confirmed the presence of the ETV6-ABL fusion transcript.     ///     We report the transient response of a patient with the ETV6-ABL fusion gene to imatinib mesylate (STI571).     ///    Transient response to imatinib mesylate (STI571) in a patient with the ETV6-ABL t(9;12) translocation.. '), ('166', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '15162063', '168', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'It was demonstrated that ETV6/RUNX1 gene fusion was a frequent event (0.59-1.84/100 cells) in peripheral blood lymphocytes from normal individuals and the ALL patients who underwent chemotherapy showed significantly (P = 0.0043) increased frequencies (0.62-3.96/100 cells) of the rearrangement when compared with the control groups (patients at diagnosis and healthy subjects).     ///    \"Twelve ALL patients (aged 5 to 16 years) and twelve healthy subjects (aged 18 to 22 years) were studied for the presence of ETV6/RUNX1 (TEL/AML1) translocations, which were detected by FISH (fluorescence in situ hybridization). \"    ///    Analysis of ETV6/RUNX1 fusions for evaluating the late effects of cancer therapy in ALL (acute lymphoblastic leukemia) cured patients..     ///    \"Therefore, increased frequencies of ETV6/RUNX1 fusions in ALL cured patients indicate the influence of previous exposure to anti-cancer drugs, and they may represent an important genetic marker for estimating the risk of relapse, or development of secondary neoplasias.. \"'), ('167', 'TEC_EWS', 't(9;22)(q22;q12) / del(22)(q12-13) / t(9;17)(q22;q11-12) / t(7;9;17)(q32;q22;q11) / t(9;15)(q22;q21) / ', 'TEC', 'EWS', '12598313', '167', 'chondrosarcoma;liposarcoma;sarcoma\r\r', 'FISH ', 'Kinase', '', '', '', '', '', '', 'All tumors contained translocation-generated or cryptic gene fusions, including EWS-TEC (five cases, of which one was a novel fusion), TAF2N-TEC (four cases), and TCF12-TEC (one case). '), ('168', 'RARA_PML', 't(15;17) / ', 'RARA', 'PML', '7967757', '167', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Efficacy of fluorescence in situ hybridization for detecting PML/RARA gene fusion in treated and untreated acute promyelocytic leukemia.. '), ('169', 'EWSR1_ATF1', '', 'EWSR1', 'ATF1', '25804255', '166', 'fibrous histiocytoma;histiocytoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Angiomatoid fibrous histiocytoma is associated with recurrent chromosomal translocations, leading to characteristic EWSR1-CREB1, EWSR1-ATF1, and, rarely, FUS-ATF1 gene fusions.     ///    \"Of 16, 14 (87.5%) had detectable EWSR1-CREB1 or EWSR1-ATF1 fusion transcripts by RT-PCR, whereas 13 (76.5%) of 17 had positive EWSR1 rearrangement with FISH.\"    ///    \"fluorescence in situ hybridization (FISH), detecting EWSR1 or FUS rearrangements, and reverse transcription-polymerase chain reaction (RT-PCR) for EWSR1-CREB1 and EWSR1-ATF1 fusion transcripts have become routine ancillary tools. \"    ///    \"Of 16, 14 (87.5%) had detectable EWSR1-CREB1 or EWSR1-ATF1 fusion transcripts by RT-PCR, whereas 13 (76.5%) of 17 had positive EWSR1 rearrangement with FISH. \"    ///    Seventeen neoplasms (from 16 patients) histologically diagnosed as AFH were assessed for EWSR1 rearrangements or EWSR1-CREB1 and EWSR1-ATF1 fusion transcripts.    ///    \"All 13 of 13 non-AFH control neoplasms failed to show EWSR1-CREB1 or EWSR1-ATF1 fusion transcripts, whereas EWSR1 rearrangement was present in 2 of these 13 cases (which were histopathologically myoepithelial neoplasms).\"    ///    \"All 13 of 13 non-AFH control neoplasms failed to show EWSR1-CREB1 or EWSR1-ATF1 fusion transcripts, whereas EWSR1 rearrangement was present in 2 of these 13 cases (which were histopathologically myoepithelial neoplasms). \"    ///    This study shows that EWSR1-CREB1 or EWSR1-ATF1 fusions predominate in AFH (supporting previous reports that FUS rearrangement is rare in AFH) and that RT-PCR has a comparable detection rate to FISH for AFH. '), ('170', 'IGH_BCL2', 't(3;14)(q27;q32) / t(2;21)(p11;q22) / t(8;18) / t(14;18)(q32;q21) / del(4)(q21) / del(6)(q27) / del(8)(q11) / del(9)(q11) / ', 'IGH', 'BCL2', '16519699', '165', 'non Hodgkin lymphoma;follicular lymphoma;B cell lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Translocation t(14;18)(q32;q21) and/or BCL-2-IGH gene rearrangements were the genomic alterations most frequently observed: 50% of S-DLBCL and 30% of dn-DLBCL. '), ('171', 'SYT_SSX1', '', 'SYT', 'SSX1', '18301245', '165', 'synovial sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'RT-PCR for SYT-SSX1/SSX2 gene fusions and FISH analysis for SYT gene breaks were performed on these 62 formalin-fixed and paraffin-embedded tumors. '), ('172', 'SSX2_SSX1', '', 'SSX2', 'SSX1', '18301245', '165', 'synovial sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'RT-PCR for SYT-SSX1/SSX2 gene fusions and FISH analysis for SYT gene breaks were performed on these 62 formalin-fixed and paraffin-embedded tumors. '), ('173', 'VCL_ALK', '', 'VCL', 'ALK', '24698962', '165', 'sickle cell trait', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'The neoplastic cells demonstrated focal membranous labeling for ALK protein by immunohistochemistry, ALK gene rearrangement by fluorescence in situ hybridization, and a specific VCL-ALK gene fusion by reverse transcriptase polymerase chain reaction.     ///    VCL-ALK renal cell carcinoma in children with sickle-cell trait: the eighth sickle-cell nephropathy?.     ///    VCL-ALK renal cell carcinoma may represent the eighth sickle-cell nephropathy. '), ('174', 'PDGFB_COL1A1', 't(17;22)(q22;q13) / ', 'PDGFB', 'COL1A1', '23207290', '165', 'dermatofibrosarcoma protuberans;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', '', 'KB', '', 'FISH analysis revealed that all the 16 samples exhibited COL1A1-PDGFB gene fusion.     ///    Our results confirm that analysis of the COL1A1-PDGFB status by FISH and RT-PCR is a useful tool in the confirmation of a DFSP diagnosis. '), ('175', 'RARA_PML', '', 'RARA', 'PML', '12505266', '164', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH;PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Usually the gene fusion PML/RARA is located on chromosome 15.     ///    Cryptic translocation of PML/RARA on 17q.     ///    PCR showed a typical PML/RARA rearrangement in exon 1.     ///    \"This case adds further information on alternative ways of rearrangement of the PML/RARA genes, possibly correlated with all-trans retinoic acid resistance.. \"'), ('176', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23850495', '164', 'small cell carcinoma;adenocarcinoma\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'Of 54 cases of prostatic small cell carcinoma, 26 (48%) were positive for TMPRSS2-ERG gene fusion by FISH and 12 (22%) showed overexpression of ERG protein by immunohistochemistry.    ///    \"Of 54 cases of prostatic small cell carcinoma, 26 (48%) were positive for TMPRSS2-ERG gene fusion by FISH and 12 (22%) showed overexpression of ERG protein by immunohistochemistry. \"    ///    We evaluated 54 cases of small cell carcinoma of the prostate and compared TMPRSS2-ERG gene fusion status by fluorescence in situ hybridization (FISH) to immunohistochemical staining with antibody to ERG.     ///    TMPRSS2-ERG gene fusion appears to be a highly specific alteration in prostatic carcinoma that is frequently shared by small cell carcinoma.     ///    Positive staining for ERG by immunohistochemistry is present in a subset of prostatic small cell carcinomas and correlates with the presence of TMPRSS2-ERG gene fusion.     ///    Frequent TMPRSS2-ERG rearrangement in prostatic small cell carcinoma detected by fluorescence in situ hybridization: the superiority of fluorescence in situ hybridization over ERG immunohistochemistry.. '), ('177', 'TEL_AML1', '', 'TEL', 'AML1', '14527352', '164', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Three out of the 14 patients positive for the TEL/AML1 gene fusion were originally reported to be culture failures and none of the remaining eleven samples had been found to have chromosome 12 abnormalities by conventional cytogenetic techniques.     ///    All fourteen patients positive for TEL/AML1 gene fusion were mosaic.     ///    one did have the TEL/AML1 gene fusion.     ///    \" To investigate patients with acute lymphoblastic leukemia (ALL) for TEL/AML1 fusion, BCR/ABL fusion, MLL gene rearrangements, and numerical changes of chromosomes 4, 10, 17 and 21 by fluorescence in situ hybridization (FISH) and to determine the relationship and the significance of those findings. \"    ///    \"Interestingly, seven of these patients did not have TEL/AML1, BCR/ABL or the MLL gene rearrangement. \"    ///    All pediatric patients with pre-T or T cell lineage and the six adults were negative for TEL/AML1 fusion.     ///    Four patients had a monosomy of chromosome 17 and three out of these patients with monosomy 17 also had a fusion signal of TEL/AML1.     ///    \"14 out of the 45 pediatric patients (31%) were positive for TEL/AML1 fusion, among which three had an additional derivative 21 [t (12;21)], four had a deletion of 12p and two had an extra copy of chromosome 21. \"    ///    All 14 patients with positive TEL/AML1 fusion had ALL pre-B cell or B-cell lineage according to standard immunotyping.     ///    \"This study found a trend towards a division between patients who had structural changes such as t (12;21) or a ring chromosome 21 and those who had numerical changes of chromosome 21 as well as the patients with TEL/AML1 fusion and patients with the coexistence of numerical chromosomal changes of chromosomes 4, 10 and 17. \"'), ('178', 'RUNX1T1_RUNX1', 't(8;21)(q22;q22) / p21;q22 / ', 'RUNX1T1', 'RUNX1', '18558290', '164', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Using a dual-color FISH test with RUNX1T1 and RUNX1 probes, we demonstrated an RUNX1/RUNX1T1 fusion signal on the derivative chromosome 8, establishing this translocation as a novel complex variant of t(8;21)(q22;q22).. '), ('179', 'IGH_BCL2', 't(14;18) / t(14;18)  / ', 'IGH', 'BCL2', '22052344', '163', 'follicular lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The presence of the Bcl-2/IgH fusion gene in the BM samples             and paraffin-embedded LN samples from 56 patients with follicular lymphomas was             detected using FISH.     ///    \"We identified the same bcl-2/IgH fusion gene in             paraffin-embedded lymph node (LN) samples and BM samples using immunohistochemistry             (IHC), immunocytochemistry (ICC), cytologic morphology and fluorescence in situ             hybridization (FISH). \"    ///    \"The primary lesion was also positive for the bcl-2/IgH fusion gene,             as were the BM minimal infiltrates. \"    ///    Approximately 78.6% (44/56) of             the paraffin?embedded LN tissue sections that underwent FISH analysis had a bcl-2/IgH             translocation.     ///    The assessment of bcl-2/IgH translocation status may contribute             to the better detection of minimal BM infiltration by FL cells.     ///    The bcl-2/IgH rearrangement occurred in 88.6%             (39/44) of the BM specimens.     ///    The bcl-2/IgH recombination rate in stage III/IV             cancers was significantly different to that observed in stage I/II cancers (p=0.041).     ///    Bcl-2/IgH expression in minimal bone marrow infiltration by follicular             lymphoma cells.. '), ('180', 'IGH_BCL2', 't(14;18) / t(14;18)  / ', 'IGH', 'BCL2', '25016705', '163', 'B cell lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The presence of the Bcl-2/IgH fusion gene was detected in BM samples and paraffin-embedded lymph node (LN) samples from 103 patients with DLBCLs using FISH.     ///    \"During the follow-up, no infiltration by cytomorphology for 16 DLBCL patients whose bone marrow presented Bcl-2/IgH gene rearrangement at diagnosis, and two cases were positive by morphology compared to FISH-positive results 6 months later. \"    ///    \"Utilizing both FISH and cytologic morphology, the assessment of Bcl-2/IgH translocation status could contribute to the better detection of minimal bone marrow infiltration and relapse receiving treatment by DLBCL cells.. \"    ///    Bcl-2/IgH translocation in paraffin-embedded LN tissue sections was observed in 43 (41.7%) patients by FISH.     ///    \"Of the 43 patients, the Bcl-2/IgH rearrangement in the bone marrow specimens occurred in 34 patients. \"    ///    Bcl-2/IgH expression of diffuse large B-cell lymphoma cells in minimal bone marrow infiltration..     ///    \"The Bcl-2/IgH recombination rate in stage III cancers was not significantly different compared to the rate observed in stage I/II cancers (p = 0.101), respectively showing no statistical differences between stage IV and I/II (p = 0.179). \"    ///    9 out of 16 patients (56.3%) presented with positive Bcl-2/IgH results earlier than the morphology evaluation after 12 months. '), ('181', 'ETO_AML1', 't(8;21) / ', 'ETO', 'AML1', '11463447', '163', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Reverse transcription-polymerase chain reaction (RT-PCR) analysis showed the presence of AML1/ETO fusion transcripts identical to those found in classical t(8;21).     ///    \"Using a dual-color FISH test with ETO and AML1 probes, we demonstrated an AML1/ETO fusion signal on the derivative chromosome 8. \"    ///    \"The present case highlights the relevant role of the rearranged chromosome 8, which encodes the AML1/ETO fusion product in the pathogenesis of AML-M2.. \"'), ('182', 'TAF15_NR4A3', '', 'TAF15', 'NR4A3', '24746215', '162', 'chondrosarcoma;sarcoma\r\r', 'FISH ', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Fluorescence in situ hybridization analysis showed EWSR1-NR4A3 gene fusion in 16 cases (62%), TAF15-NR4A3 gene fusion in 7 cases (27%), and TCF12-NR4A3 gene fusion in 1 case (4%).    ///    \"Fluorescence in situ hybridization analysis showed EWSR1-NR4A3 gene fusion in 16 cases (62%), TAF15-NR4A3 gene fusion in 7 cases (27%), and TCF12-NR4A3 gene fusion in 1 case (4%). \"'), ('183', 'ETO_AML1', 't(8;21)(q22;q22) / t(8;21) / ', 'ETO', 'AML1', '10432929', '162', 'leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'The molecular detection of the AML1/ETO fusion gene is possible by reverse transcriptase polymerase chain reaction (RT-PCR) or dual-color fluorescence in situ hybridization (FISH) using probes specific for AML1 and ETO.     ///    \"Two were AML1/ETO positive by RT-PCR, one showed a rearrangement by AML1 by Southern analysis, and the fourth had morphological features characteristic of t(8;21). \"'), ('184', 'NR4A3_EWSR1', '', 'NR4A3', 'EWSR1', '24746215', '162', 'chondrosarcoma;sarcoma\r\r', 'FISH ', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', '', 'Fluorescence in situ hybridization analysis showed EWSR1-NR4A3 gene fusion in 16 cases (62%), TAF15-NR4A3 gene fusion in 7 cases (27%), and TCF12-NR4A3 gene fusion in 1 case (4%).     ///    \"In conclusion, EMCs with variant NR4A3 gene fusions show a higher incidence of rhabdoid phenotype, high-grade morphology, and a more aggressive outcome compared with the EWSR1-NR4A3 positive tumors. \"    ///    \"Extraskeletal myxoid chondrosarcomas (EMC) are rare soft tissue sarcomas with distinctive histology and uncertain histogenesis, characterized by Ewing sarcoma breakpoint region 1-nuclear receptor subfamily 4, group A, member 3 (EWSR1-NR4A3) fusion in 75% of the cases.\"    ///    \" Extraskeletal myxoid chondrosarcomas (EMC) are rare soft tissue sarcomas with distinctive histology and uncertain histogenesis, characterized by Ewing sarcoma breakpoint region 1-nuclear receptor subfamily 4, group A, member 3 (EWSR1-NR4A3) fusion in 75% of the cases. \"'), ('185', 'BCR_ABL1', 't(9;22) / ', 'BCR', 'ABL1', '26186983', '162', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In this study, we describe the cytogenetic and molecular features of five CML patients with cryptic BCR-ABL1 fusion genes using karyotype, fluorescence in situ hybridization (FISH), and whole genome single nucleotide polymorphism array techniques.     ///    \"In approximately 1% of CML cases, the Philadelphia chromosome associated with the BCR-ABL1 fusion gene is not present, and the BCR-ABL1 fusion gene is generated by cryptic insertion or sequential translocations. \"    ///    This study demonstrates for the first time the acquisition of additional BCR-ABL1 fusion genes through mitotic recombination in CML with cryptic BCR-ABL1.     ///    \"In two cases of CML-BP, duplication of the BCR-ABL1 fusion gene occurred as a result of mitotic recombination between homologous chromosomes. \"    ///    \"By BCR-ABL1 metaphase FISH analysis, we found that fusion signals were localized on chromosomes 9 (3 cases), 22 (1 case), and both 9 and 22 (1 case). \"    ///    \"Cytogenetic, fluorescence in situ hybridization, and genomic array characterization of chronic myeloid leukemia with cryptic BCR-ABL1 fusions.. \"'), ('186', 'IGH_BCL1', 't(11;14)(q13;q32) / ', 'IGH', 'BCL1', '11920255', '162', 'prolymphocytic leukemia', 'FISH', '', '', '', '', '', '', '', 'Seven cases of MCLeu with t(11;14)(q13;q32) and BCL1-IGH gene rearrangement were ascertained among 140 newly diagnosed chronic B-cell lymphoproliferative disorders with leukemic expression. '), ('187', 'ETO_AML1', 't(8;11;21)  / t(8;21)(q22;q22) / t(8;11)(q22;p15) / t(8;21) (q22;q22) / t(8;21)  / ', 'ETO', 'AML1', '26029947', '162', 'acute myeloid leukemia', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'The molecular detection of the AML1-ETO fusion gene is possible by reverse transcriptase polymerase chain reaction (RT-PCR) or dualcolor fluorescence in situ hybridization (FISH) using probes specific for AML1 and ETO.     ///    \"FISH nalysis disclosed a 3-way translocation involving chromosomes 8, 11, and 21 and identified a masked variant t(8;21)(q22;q22) using AML1-ETO probe and whole chromosome paint probes (WCP) 8 and 11 with a one-step mechanism. \"    ///    Acute Myeloid Leukemia with a Masked Type of Three-Way t(8;11;21) Revealed by Fluorescence In Situ Hybridizations Using AML1-ETO Probe.. '), ('188', 'TCF12_NR4A3', '', 'TCF12', 'NR4A3', '24746215', '162', 'chondrosarcoma;sarcoma\r\r', 'FISH ', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Fluorescence in situ hybridization analysis showed EWSR1-NR4A3 gene fusion in 16 cases (62%), TAF15-NR4A3 gene fusion in 7 cases (27%), and TCF12-NR4A3 gene fusion in 1 case (4%). ');
INSERT INTO `ChimerPub_dump` VALUES ('189', 'MALT1_API2', 't(11;18)(q21;q21) / ', 'MALT1', 'API2', '19535128', '162', 'acute cholecystitis', 'FISH ', '', '', '', '', '', '', '', 'Primary mucosa-associated lymphoid tissue lymphoma of the gallbladder: report of a case harboring API2/MALT1 gene fusion..     ///    \"Interphase fluorescence in situ hybridization analysis on paraffin sections, using a fusion probe for API2/MALT1, demonstrated 2 fusion signals in most nuclei, bringing the first documentation of a t(11;18)(q21;q21) in this exceptional primary disease location.. \"'), ('190', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '21499238', '161', 'adenocarcinoma;prostate cancer;small cell carcinoma', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2-ERG gene fusion was found in 47% (14/30) of prostatic small cell carcinoma.     ///    Small cell carcinoma of the prostate demonstrates TMPRSS2-ERG rearrangement with comparable frequency to prostatic adenocarcinoma.     ///    ERG-TMPRSS2 rearrangement is shared by concurrent prostatic adenocarcinoma and prostatic small cell carcinoma and absent in small cell carcinoma of the urinary bladder: evidence supporting monoclonal origin.. '), ('191', 'PSF_TFE3', '', 'PSF', 'TFE3', '20871214', '161', 'angiomyolipoma;clear cell sugar tumor;lymphangioleiomyomatosis;perivascular epithelioid cell tumors', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Two of these cases had adequate mRNA for RT-PCR analysis, but neither harbored the PSF-TFE3 gene fusion reported earlier in 1 PEComa.    ///    \"Two of these cases had adequate mRNA for RT-PCR analysis, but neither harbored the PSF-TFE3 gene fusion reported earlier in 1 PEComa. \"'), ('192', 'PDGFRB_ETV6', '', 'PDGFRB', 'ETV6', '25834096', '161', 'hematologic malignancy\r\r', 'FISH ', 'Kinase', '', '', 'Receptor', '', 'KB', '', 'In differential diagnosis of hypereosinophilia, the analysis of characteristic gene mutations (e.g., cKIT) and gene fusions (e.g., ETV6-PDGFRB) is also applied, using molecular genetic methods.. '), ('193', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '14695996', '161', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'We therefore propose that the potential of the immunogenotype to diversify depends primarily on the stage of IG/TCR gene configuration of the cell in which the ETV6/RUNX1 gene fusion takes place..     ///    \" Recent data suggest that late relapses evolve from an ancestral ETV6/RUNX1-positive (also designated TEL/AML1-positive) clone resulting from secondary changes (ETV6 deletion) that differ from those of the initial leukemia and, as a consequence, may also deviate in their clonotypic immunoglobulin/T-cell receptor (IG/TCR) gene rearrangements. \"    ///    Clonal variation of the immunogenotype in relapsed ETV6/RUNX1-positive acute lymphoblastic leukemia indicates subclone formation during early stages of leukemia development.. '), ('194', 'PLAG1_FGFR1', '', 'PLAG1', 'FGFR1', '18059337', '160', '', 'FISH ', 'Kinase', '', '', '', '', '', '', 'Molecular analyses revealed that ring formation consistently generated novel FGFR1-PLAG1 gene fusions in which the 5\'-part of FGFR1 is linked to the coding sequence of PLAG1. '), ('195', 'PDGFRA_BCR', 't(4;22)  / ', 'PDGFRA', 'BCR', '15034867', '160', 'myeloproliferative disorder;chronic myeloid leukemia;myeloid leukemia;leukemia;B cell lymphoma;lymphoma\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'However, although the incidence of MPD involving translocations of PDGFRB has been well established, to our knowledge there are only two previous reports describing a BCR-PDGFRA fusion gene, in 3 patients diagnosed with atypical CML. '), ('196', 'BCR_ABL1', 't(9;22)  / t(9;22)(q34;q11) / t(9;22) / ', 'BCR', 'ABL1', '20500819', '160', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'As a result of the translocation, the 3\' portion of the ABL1 oncogene is transposed from 9q34 to the 5\' portion of the BCR gene on chromosome 22 to form the BCR/ABL1 fusion gene. '), ('197', 'FN1_EGF', '', 'FN1', 'EGF', '26691015', '160', 'soft tissue cancer\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'FN1-EGF gene fusions are recurrent in calcifying aponeurotic fibroma..     ///    FISH on five additional tumours identified FN1-EGF fusions in all cases.     ///    \"The FN1-EGF fusion, which has not been observed in any other neoplasm, appears to be the main driver mutation in CAF. \"'), ('198', 'ETV6_ABL1', '', 'ETV6', 'ABL1', '24053143', '160', '', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' ETV6-ABL1 is a rare gene fusion with oncogenic properties, reported so far in 28 patients presenting a variety of haematological malignancies associated with clinical outcome, including chronic myeloid leukaemia (CML), acute myeloid leukaemia (AML), acute lymphoblastic leukaemia (ALL) and chronic myeloproliferative neoplasm (cMPN).     ///    \"In summary, we highlight the value of ETV6 FISH as a diagnostic test and the therapy resistance of ETV6-ABL1 positive disorders to imatinib. \"    ///    \"While FISH with commercial BCR-ABL1 probes failed to detect any ABL1 changes, the ETV6 break-apart probe conclusively identified the ETV6-ABL1 fusion thus determining the probe\'s role as the primary diagnostic FISH test for this chimeric oncogene. \"    ///    \"Here we report on a 46-year-old female who presented with Philadelphia negative CML, positive for the ETV6-ABL1 fusion. \"    ///    Myeloproliferative neoplasm with ETV6-ABL1 fusion: a case report and literature review..     ///    \"In addition, we confirm the association of the ETV6-ABL1 fusion with imatinib resistance reported so far in three other patients, while recording excellent response to the 2nd generation tyrosine kinase inhibitor (TKI) nilotinib. \"'), ('199', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '26503111', '160', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', ' The TMPRSS2:ERG (T2E) gene fusion is the most common rearrangement in prostate cancer (PCa). '), ('200', 'PAX3_FOXO1', '', 'PAX3', 'FOXO1', '22089931', '159', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'In pediatric alveolar rhabdomyosarcoma, the PAX3-FOXO1 and PAX7-FOXO1 gene fusions are prognostic indicators, while little is known concerning this disease in older patients.    ///    \" In pediatric alveolar rhabdomyosarcoma, the PAX3-FOXO1 and PAX7-FOXO1 gene fusions are prognostic indicators, while little is known concerning this disease in older patients. \"    ///    \"Fifty-two percent of the samples exhibited a PAX3-FOXO1 fusion, 15% the PAX7-FOXO1 fusion, and 33% were negative for a rearrangement of these loci. \"'), ('201', 'EWSR1_CREB1', '', 'EWSR1', 'CREB1', '22038502', '159', 'fibrous histiocytoma;histiocytoma\r\r', 'FISH', '', '', '', '', 'Transcription_Factor', 'KB', '', 'Vast majority of the soft tissue cases share the same translocation and the resulting EWSR1-CREB1 gene fusion as background pathogenetic alteration.    ///    Vast majority of the soft tissue cases share the same translocation and the resulting EWSR1-CREB1 gene fusion as background pathogenetic alteration.     ///    \"Histological, immunohistochemical and FISH analyses of the case revealed pleomorphic phenotype, characteristic immunophenotype and multiplication of the EWSR1-CREB1 fusion gene in the nuclei of the tumor cells.\"    ///    \"Histological, immunohistochemical and FISH analyses of the case revealed pleomorphic phenotype, characteristic immunophenotype and multiplication of the EWSR1-CREB1 fusion gene in the nuclei of the tumor cells. \"    ///    Angiomatoid fibrous histiocytoma: pleomorphic variant associated with multiplication of EWSR1-CREB1 fusion gene.. '), ('202', 'YAP1_TFE3', '', 'YAP1', 'TFE3', '26840265', '159', 'epithelioid hemangioendothelioma', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', '', '', 'YAP1-TFE3 gene fusions were confirmed by RT-PCR. '), ('203', 'PAX7_FOXO1', '', 'PAX7', 'FOXO1', '22089931', '159', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', ' In pediatric alveolar rhabdomyosarcoma, the PAX3-FOXO1 and PAX7-FOXO1 gene fusions are prognostic indicators, while little is known concerning this disease in older patients.     ///    \"Fifty-two percent of the samples exhibited a PAX3-FOXO1 fusion, 15% the PAX7-FOXO1 fusion, and 33% were negative for a rearrangement of these loci. \"'), ('204', 'MYH11_CBFB', 'inv(16)(p13q22) / ', 'MYH11', 'CBFB', '15339697', '159', '', 'FISH;PCR', '', '', '', '', '', '', '', 'These findings indicate a myeloid to lymphoid lineage switch from an inv(16)(p13q22) positive leukaemia and show that IGH gene rearrangements can occur in the presence of CBFB-MYH11 fusion transcripts.. '), ('205', 'RARA_PLZF', 't(15;17) / t(11;17)(q23;q21) / t(5;17) / t(5;17)(q13;q21) / ', 'RARA', 'PLZF', '10942371', '158', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'In one case with a normal karyotype, FISH analysis revealed insertion of RAR alpha into 11q23, and PLZF-RAR alpha was the sole fusion gene formed.     ///    \"In 11 of 60 workshop patients, PLZF/RAR alpha rearrangements were identified, including 2 patients lacking the t(11;17)(q23;q21). \"'), ('206', 'TAL1_SIL', 'p32;q11 / ', 'TAL1', 'SIL', '11960364', '158', 'T ALL;leukemia\r\r', 'FISH', '', '', '', '', 'Transcription_Factor', '', '', 'A single split-signal FISH probe set allows detection of TAL1 translocations as well as SIL-TAL1 fusion genes in a single test..     ///    \"We show that this split-signal FISH probe set allows reliable detection of the unaffected SIL-TAL1 gene region with a fusion signal, SIL-TAL1 fusion genes with loss of the SIL-U signal, and TAL1 gene translocations with a split-signal, independent of the involved partner gene.. \"'), ('207', 'LMNA_FOS', '', 'LMNA', 'FOS', '26135557', '158', 'angiolymphoid hyperplasia;angiolymphoid hyperplasia with eosinophilia;ALHE', 'FISH ', '', '', '', '', 'Transcription_Factor', '', '', 'On the basis of a novel FOS-LMNA gene fusion identified by RNA sequencing in an index case of a skeletal EH with typical morphology, we sought to investigate the prevalence of FOS rearrangement in a large cohort of EHs. '), ('208', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '21914348', '157', 'small cell carcinoma;prostate cancer;adenocarcinoma\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2-ERG gene fusion was evaluated on sections of cell blocks by fluorescence in situ hybridization (FISH) using ERG gene break-apart probes.     ///    Metastatic prostate cancers have a high prevalence of TMPRSS2-ERG gene fusion along with a frequent copy number increase of ERG gene.    ///    \"Therefore, an identification of the TMPRSS2-ERG gene fusion may be used to establish the prostatic origin of metastasis.. \"    ///    TMPRSS2-ERG gene fusion can be evaluated in FNA specimens of metastatic prostate cancer.     ///    [TMPRSS2-ERG gene fusion in metastatic prostate cancers: a study of fine needle aspiration specimens]..     ///     To investigate diagnostic values of the detection of TMPRSS2-ERG gene fusion in metastatic prostate cancer.     ///    TMPRSS2-ERG gene fusion persists in metastatic prostate cancers and even in those with poorly differentiated SCC features. '), ('209', 'CD19_CD10', 't(14;18)(q32;q21) / t(14;18)  / ', 'CD19', 'CD10', '14681948', '157', 'chronic lymphoblastic leukemia;lymphoma', 'FISH ', '', '', '', '', '', '', '', 'Follicular lymphoma (FL) is characterized by a monoclonal B-cell proliferation with coexpression of CD19/CD10 and a t(14;18)(q32;q21) reciprocal translocation, resulting in the immunoglobulin heavy chain/BCL-2 fusion gene. '), ('210', 'NUT_BRD4', 't(15;19)  / ', 'NUT', 'BRD4', '24655834', '157', '', 'FISH ', 'Kinase', '', '', '', '', 'KB', '', 'Cytogenetic and fluorescence in situ hybridization analyses revealed a t(15;19) and BRD4-NUT gene rearrangement.     ///    \"In approximately two-thirds of cases, the characteristic t(15;19) results in the fusion oncogene BRD4-NUT. \"'), ('211', 'ETV6_ABL1', 't(9;12)(q34;p13) / t(9;22)(q34;q11) / ', 'ETV6', 'ABL1', '12505259', '157', 'chronic myeloid leukemia;lymphoblastic leukemia', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Chronic myelocytic leukemia with eosinophilia, t(9;12)(q34;p13), and ETV6-ABL gene rearrangement: case report and review of the literature..     ///    \"Loeffler endocarditis, and t(9;12)(q34;p13) that resulted in an ETV6-ABL gene rearrangement/fusion identified to the best of our knowledge, for the first time by using commercially available fluorescence in situ hybridization probes.. \"'), ('212', 'EML4_ALK', '', 'EML4', 'ALK', '25609979', '156', 'non small cell lung cancer;lung cancer;adenocarc\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'EML4-ALK gene fusions are present in lung adenocarcinomas from Indian patients, and the 3% incidence of EML4-ALK gene fusion in EGFR mutation-negative cases is similar to what has been observed in other Western and Asian populations.     ///    Clinical and epidemiological study of EGFR mutations and EML4-ALK fusion genes among Indian patients with adenocarcinoma of the lung.    ///    \"Of the 336 EGFR-negative blocks, EML4-ALK fusion gene was present in 15 (4.5%) patients, whereas 321 (95.5%) tumors were EML4-ALK negative.\"    ///    The overall incidence of EML4-ALK fusion gene was 3% (15/500).     ///    Clinical and epidemiological study of EGFR mutations and EML4-ALK fusion genes among Indian patients with adenocarcinoma of the lung..     ///    \"Of the 336 EGFR-negative blocks, EML4-ALK fusion gene was present in 15 (4.5%) patients, whereas 321 (95.5%) tumors were EML4-ALK negative. \"    ///    The mutual exclusivity of EML4-ALK and EGFR mutations suggests implementation of biomarker testing for tumors harboring ALK rearrangements in order to identify patients that can benefit from newer targeted therapies..     ///    The objective of this study was to determine the prevalence of EGFR mutations and EML4-ALK fusions in Indian patients with NSCLC (adenocarcinoma) as well as evaluate their clinical characteristics.    ///    The objective of this study was to determine the prevalence of EGFR mutations and EML4-ALK fusions in Indian patients with NSCLC (adenocarcinoma) as well as evaluate their clinical characteristics. '), ('213', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '18500259', '156', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'To date, there has been no systematic analysis of the combined influence of genomic PTEN deletion with TMPRSS2:ERG gene fusions on clinical parameters of prostate cancer progression.     ///     TMPRSS2:ERG gene fusions and PTEN deletions are the most common genomic aberrations in prostate cancer.     ///    We carried out a retrospective analysis of 125 prostate cancers with known clinical outcome using interphase fluorescence in situ hybridization to detect the relative prevalence of TMPRSS2:ERG rearrangements and/or PTEN genomic deletions.     ///    TMPRSS2:ERG rearrangement was found in 60 of 125 (48%) prostate cancers.     ///    \"Gleason grade (P=0.0002)/score (P=0.001), median tumor volume (P=0.0024), preoperative PSA (P=0.001) and perineural invasion (P=0.0304) were significantly associated with biochemical recurrence by univariate analysis with TMPRSS2:ERG approaching significance (P=0.0523). \"'), ('214', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '18483239', '156', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'The most common prostate cancer gene fusion, TMPRSS2-ERG, can be generated by the mechanism of interstitial deletion (Edel) about 39% to 60% of the time in clinically localized disease.     ///    \"These findings suggest that TMPRSS2-ERG with Edel is an aggressive and, in this study, uniformly lethal molecular subtype of prostate cancer associated with androgen-independent disease.. \"    ///    \"Interestingly, we observed that all of the androgen-independent metastatic prostate cancer sites harboring TMPRSS2-ERG were associated with Edel. \"'), ('215', 'RET_KIF5B', '', 'RET', 'KIF5B', '23891510', '156', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', '', '', 'Thus, the aim of this study was to verify the possibility to use RNA purified from cytological specimens to perform KIF5B/RET gene fusion expression analysis.     ///    \"Thus, the aim of this study was to verify the possibility to use RNA purified from cytological specimens to perform KIF5B/RET gene fusion expression analysis.\"    ///    \"KIF5B/RET fusion gene analysis in a selected series of cytological specimens of EGFR, KRAS and EML4-ALK wild-type adenocarcinomas of the lung.. \"    ///    \"In conclusion, our findings confirm that the performance of cytology-based molecular testing for KIF5B/RET rearrangements is at least as effective as histology-based analysis, both with regard to the success rate for nucleic acid isolation and the ability to detect gene alterations. \"    ///    \"In conclusion, our findings confirm that the performance of cytology-based molecular testing for KIF5B/RET rearrangements is at least as effective as histology-based analysis, both with regard to the success rate for nucleic acid isolation and the ability to detect gene alterations.\"    ///    The tests conducted revealed the presence of 1 positive patient for variant 1 of KIF5B/RET among the 49 analyzed. '), ('216', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '17401460', '156', 'small cell carcinoma;prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'Molecular characterization of TMPRSS2-ERG gene fusion in the NCI-H660 prostate cancer cell line: a new perspective for an old model..     ///    NCI-H660 harbors TMPRSS2-ERG fusion with a homozygous intronic deletion between TMPRSS2 and ERG. '), ('217', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '19396154', '156', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'In this study, we used fluorescence in situ hybridization to evaluate TMPRSS2-ERG gene fusion in prostate cancer of different zonal origins.     ///    Prostate cancer of transition zone origin lacks TMPRSS2-ERG gene fusion..     ///    \"In conclusion, we found that TMPRSS2-ERG gene fusion is associated with the zonal origin of prostate cancer. \"'), ('218', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '20118910', '156', 'prostate cancer\r\r', 'FISH;PCR', '', '', '', '', '', 'KB', 'Seq', 'Prevalence of TMPRSS2-ERG and SLC45A3-ERG gene fusions in a large prostatectomy cohort.. '), ('219', 'FUS_CREB3L2', '', 'FUS', 'CREB3L2', '24441665', '156', 'sarcoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'LGFMS is characterized by expression of the MUC4 protein, and about 90% of cases display a distinctive FUS-CREB3L2 gene fusion.    ///    \"LGFMS is characterized by expression of the MUC4 protein, and about 90% of cases display a distinctive FUS-CREB3L2 gene fusion. \"    ///    All 5 cases of LGFMS with progression to SEF morphology or hybrid features had FUS-CREB3L2 fusion transcripts.    ///    All 5 cases of LGFMS with progression to SEF morphology or hybrid features had FUS-CREB3L2 fusion transcripts. '), ('220', 'TEL_AML1', '', 'TEL', 'AML1', '11468150', '156', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'TEL-AML1 gene fusion appears to be an initiating event and usually occurs before birth, in utero.     ///    \"Origins of \"\"late\"\" relapse in childhood acute lymphoblastic leukemia with TEL-AML1 fusion genes.. \"    ///    \" Approximately 20% of childhood B-precursor acute lymphoblastic leukemia (ALL) has a TEL-AML1 fusion gene, often in association with deletions of the nonrearranged TEL allele. \"    ///    \"It is speculated that, in some patients, combination chemotherapy for childhood ALL may fail to eliminate a fetal preleukemic clone with TEL-AML1 and that a second, independent transformation event within this clone after treatment gives rise to a new leukemia masquerading as relapse. \"    ///    \"In contrast, a patient who had a relapse while on treatment with TEL-AML1 fusion had essentially the same TEL deletion, though with evidence for microsatellite instability 5(\') of TEL gene deletion at diagnosis, leading to extended 5(\') deletion at relapse. \"'), ('221', 'TEL_AML1', '', 'TEL', 'AML1', '15877731', '156', '', 'FISH;PCR', '', '', '', '', '', '', '', 'Bone marrow cells from 80 paediatric patients with ALL at diagnosis were analysed for the presence of the TEL/AML1 fusion gene by interphase FISH.     ///     The TEL/AML1 (ETV6/RUNX1) fusion gene is the most common genetic rearrangement in paediatric acute lymphoblastic leukaemia (ALL).     ///    Co-existence of multiple subclones in TEL-AML1 at diagnosis of acute lymphoblastic leukaemia in association with submicroscopic deletion of AML1..     ///    \"Other abnormalities included TEL deletion, trisomy and tetrasomy 21 as well as double TEL-AML1 fusion. \"'), ('222', 'EWS_ERG', 't(1;16)  / t(11;22)(q24q12) / t(11;22)  / t(1;16) / t(21;22)  / ', 'EWS', 'ERG', '8625264', '156', 'ewing sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Using the RT-PCR technique, a variant EWS/ERG fusion transcript was noted, resulting from a t(21;22) chromosomal rearrangement which recently demonstrated in roughly 10% of ET.     ///    Association of the additional translocation der(16)t(1;16) with the variant EWS/ERG rearrangement in a case of cytogenetically inconspicuous chromosome 22..     ///    This is the first reported combination of t(1;16) with the EWS/ERG rearrangement.     ///    \"However, data on possible biologic differences in EWS/FLI-1 versus EWS/ERG expressing ET are as yet unavailable. \"'), ('223', 'SLC45A3_ERG', '', 'SLC45A3', 'ERG', '20118910', '156', 'prostate cancer\r\r', 'FISH;PCR', '', '', '', '', '', 'KB', 'Seq', 'Prevalence of TMPRSS2-ERG and SLC45A3-ERG gene fusions in a large prostatectomy cohort..     ///    This is the first study to describe the frequency of SLC45A3-ERG fusions in a large clinical cohort. '), ('224', 'TEAD1_NCOA2', '', 'TEAD1', 'NCOA2', '26501226', '156', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', '', '', 'Three (27%) cases harbored the previously described NCOA2 gene fusions, including TEAD1-NCOA2 in 2 and SRF-NCOA2 in 1. '), ('225', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23887154', '156', 'prostate cancer;prostatic intraepithelial neoplasia\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'Atypical adenomatous hyperplasia of prostate lacks TMPRSS2-ERG gene fusion..     ///    Fifty-five separate prostate specimens containing AAH were investigated by fluorescence in situ hybridization and immunohistochemistry for TMPRSS2-ERG rearrangement.     ///    TMPRSS2-ERG rearrangements were not identified in AAH either by fluorescence in situ hybridization or by immunohistochemistry.     ///    The prevalence of TMPRSS2-ERG alteration in AAH is unknown. '), ('226', 'ST3GAL1_HTR4', '', 'ST3GAL1', 'HTR4', '25651471', '156', 'perivascular epithelioid cell neoplasm\r\r', 'FISH ', '', '', '', 'Receptor', '', '', '', 'Other nonrecurrent gene fusions, HTR4-ST3GAL1 and RASSF1-PDZRN3, were identified in 2 cases. '), ('227', 'TFE3_DVL2', '', 'TFE3', 'DVL2', '25651471', '156', 'perivascular epithelioid cell neoplasm\r\r', 'FISH ', '', '', '', '', '', '', '', 'Combined RNA sequencing and fluorescence in situ hybridization analysis identified 9 (23%) TFE3 gene-rearranged tumors, with 3 cases showing an SFPQ/PSF-TFE3 fusion and 1 case showing a novel DVL2-TFE3 gene fusion. '), ('228', 'RASSF1_PDZRN3', '', 'RASSF1', 'PDZRN3', '25651471', '156', 'perivascular epithelioid cell neoplasm\r\r', 'FISH ', '', '', '', '', '', '', '', 'Other nonrecurrent gene fusions, HTR4-ST3GAL1 and RASSF1-PDZRN3, were identified in 2 cases. '), ('229', 'EWSR1_CREB3L1', '', 'EWSR1', 'CREB3L1', '24441665', '156', 'sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Recurrent EWSR1-CREB3L1 gene fusions in sclerosing epithelioid fibrosarcoma..     ///    \"Using FISH, reverse transcription polymerase chain reaction, and/or mRNA sequencing in selected cases, we found recurrent EWSR1-CREB3L1 fusion transcripts by reverse transcription polymerase chain reaction in 3/10 pure SEF cases and splits and deletions of the EWSR1 and/or CREB3L1 genes by FISH in 6 additional cases. \"'), ('230', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '21937078', '156', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', ' Recent studies have revealed the presence of TMPRSS2-ERG gene fusion in both primary and metastatic prostate cancers.     ///    The relationship of TMPRSS2-ERG gene fusion between primary and metastatic prostate cancers..     ///    Our study demonstrates a close relationship of the TMPRSS2-ERG gene fusion status between primary and metastatic prostate cancer. '), ('231', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '20693982', '156', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2-ERG gene fusion was present in 7/59 (12%) transition zone, and in 12/35 (34%) peripheral zone tumors.     ///    A recent study suggested that TMPRSS2-ERG gene fusion is lacking in cancers arising from the transition zone of the prostate. '), ('232', 'NTRK3_ETV6', '', 'NTRK3', 'ETV6', '26606880', '156', 'sarcoma\r\r', 'FISH', 'Kinase', '', '', '', '', 'KB', 'Seq', 'Intriguingly, the analysis unveiled the presence of an ETV6-NTRK3 gene fusion.     ///    Transcriptome sequencing identifies ETV6-NTRK3 as a gene fusion involved in GIST..     ///    The fusion transcript identified encompasses exon 4 of ETV6 and exon 14 of NTRK3 and therefore differs from the canonical ETV6-NTRK3 chimera of infantile fibrosarcomas. '), ('233', 'PDGFRA_FIP1L1', 't(8;9)(p21;p24) / del(6)(q24) / t(8;9) / ', 'PDGFRA', 'FIP1L1', '16769584', '155', '', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'A FIP1L1-PDGFRA fusion gene was identified in four male patients by interphase FISH and RT-PCR. '), ('234', 'SSX_SS18', 'p11.2;q11.2 / ', 'SSX', 'SS18', '17471153', '155', 'synovial sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', ' SS18-SSX fusion genes resulting from a chromosomal translocation t(X;18)(p11.2;q11.2) are a genetic hallmark of synovial sarcoma.     ///    \"Molecular detection of SS18-SSX fusion gene transcripts by cRNA in situ hybridization in synovial sarcoma using formalin-fixed, paraffin-embedded tumor tissue specimens.. \"    ///    \"Although such cytogenetic or molecular aberrations have mostly been detected by fluorescence in situ hybridization or reverse transcription-polymerase chain reaction, the expression of SS18-SSX has been poorly investigated at a cellular or tissue level. \"    ///    \"The ISH signals of the SS18-SSX transcripts were identified in 13 synovial sarcomas, and their fusion types correlated with those determined by reverse transcription-polymerase chain reaction. \"    ///    \"In this study, biotinylated tyramide (BT)-based in situ hybridization (ISH) was performed to detect SS18-SSX transcripts using formalin-fixed, paraffin-embedded tissues from 15 synovial sarcomas. \"    ///    \"Our results suggest that BT-based ISH can be used as a molecular technique for the detection of SS18-SSX using formalin-fixed, paraffin-embedded tissues.. \"'), ('235', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '17632455', '154', 'prostate cancer\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', 'Seq', 'Deletion, rather than translocation, was found to be the main mechanism for TMPRSS2-ERG gene fusion (81 vs 19%).     ///    \"In this study, we used formalin-fixed paraffin-embedded tissue and evaluated both TMPRSS2-ERG and TMPRSS2-ETV1 fusions by reverse transcription polymerase chain reaction (RT-PCR) and fluorescence in situ hybridization (FISH). \"'), ('236', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '19190343', '154', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2-ERG gene fusion is not associated with outcome in patients treated by prostatectomy..     ///    We analyzed TMPRSS2-ERG gene rearrangement status by fluorescence in situ hybridization in 521 cases of clinically localized surgically treated prostate cancer with 95 months of median follow-up and also in 40 unmatched metastases.     ///    \"We therefore conclude that translocation of TMPRSS2-ERG is not associated with outcome, and the aggressive clinical features associated with CNI of chromosome 21 reflect generalized aneuploidy and are not due to CNI specifically of rearranged TMPRSS2-ERG.. \"    ///    \"DNA index assessment revealed that the majority of tumors with CNI of TMPRSS2-ERG had generalized aneuploidy/tetraploidy in contrast to tumors without TMPRSS2-ERG CNI, which were predominantly diploid. \"'), ('237', 'SYT_SSX', '', 'SYT', 'SSX', '10658912', '154', 'synovial sarcoma;gastrointestinal stromal tumor;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'The translocation was present in equal frequency in the epithelial and spindle cells in the biphasic areas and the poorly differentiated areas of the gastric tumor, indicating that the development of the more aggressive subclone was probably due to genetic mutations not encompassing the SYT-SSX gene fusion product. '), ('238', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '24469092', '154', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'As expected, TMPRSS2-ERG gene fusion was strongly associated with increased ERG protein expression in HN and CR PCs (both P<0.0001).     ///    \"Nearly half of the PC tissue specimens (HN: 38%, CR: 46%) harbored a TMPRSS2-ERG gene fusion. \"'), ('239', 'BCR_ABL1', 't(9;22)  / t(9;22) / ', 'BCR', 'ABL1', '11836164', '153', 'chronic myeloid leukemia', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The BCR/ABL1 fusion gene is usually found on der(22).     ///    In all cases the BCR/ABL1 fusion gene was located on the Ph chromosome whereas the reciprocal ABL1/BCR gene was detected only in patient #2.     ///    The BCR/ABL1 D-FISH probe was applied to localize the BCR/ABL1 fusion gene as well as the 5\'ABL1 and the 3\'BCR. '), ('240', 'ETO_AML1', 't(1;21;8)(p36;q22;q22) / t(8;21) / t(8;21)  / t(1;21;8) / p36.1;q22 / ', 'ETO', 'AML1', '19738329', '153', 'acute myeloid leukemia', 'FISH ', '', '', '', '', '', '', '', 'Further fluorescence in situ hybridization (FISH) studies using the AML1/ETO and the p58 probes from Abbott Molecular, demonstrated a three-way translocation between chromosomes 1, 21, and 8, with single fusion of RUNX1-RUNX1T1 on the derivative chromosome 8 [t(1;21;8)(p36.1;q22;q22)].     ///     The t(8;21)/RUNX1-RUNX1T1 is found in ~5 percent of cases of acute myeloid leukemia (AML) and in 10 percent of the prior AML with maturation (M2) category of the French-American-British (FAB) classification. '), ('241', 'MALT1_API2', 't(11;18)(q21;q21) / t(14;18)(q32;q21) / t(11;18)  / t(14;18)  / t(11;18) / ', 'MALT1', 'API2', '17199743', '153', 'MALT Lymphoma', 'FISH ', '', '', '', '', '', '', '', 'B cell CLL/lymphoma 10 (BCL10) and forkhead box PA (FOXP1) protein expression were studied by immunohistochemistry and translocations identified using fluorescence in situ hybridization (FISH)-specific probes FOXP1, t(11;18)(q21;q21)/API2-MALT1 and t(14;18)(q32;q21)/IgH-MALT1. '), ('242', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '18694509', '152', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'Association of TMPRSS2-ERG gene fusion with clinical characteristics and outcomes: results from a population-based study of prostate cancer..     ///    \"If replicated, the results presented here may provide insight into the mechanism by which the TMPRSS2-ERG gene fusion arises and also contribute to diagnostic evaluations for determining the subset of men who will go on to develop metastatic prostate cancer.. \"'), ('243', 'ETO_AML1', 't(8;21)  / t(15;17)  / inv(16)  / ', 'ETO', 'AML1', '22161107', '152', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'Of 38 cases of M2-AML without t(8;21) on conventional cytogenetics(CC) analysis, 4 cases showed positivity for AML1/ETO fusion transcript, which included 2 cases with typical signal model and 2 with insertion.     ///    \"Interphase-FISH was performed in 108 cases of AML with M5, M4, M2, M3 subtypes including 103 cases with normal karyotypes, 4 cases with chromosomal abnormalities other than specific chromosomal rearrangements using chromosome translocation probe such as AML1/ETO, PML/RAR?, CBF?/MYH11 and MLL. \"    ///    \"Interphase-FISH can detect specific chromosome rearrangements such as AML1/ETO, PML/RAR? or CBF?/MYH11 in some AML cases with normal karyotype, though it seemed less useful for the detection of MLL rearrangement.. \"'), ('244', 'HLXB9_ETV6', 't(7;12)(q36;p13) / t(7;12;16) / t(7;12)  / ', 'HLXB9', 'ETV6', '24216708', '152', '', 'FISH;PCR', '', '', '', '', '', '', '', 'Furthermore, a fusion transcript HLXB9-ETV6 is found in approximately 50% of t(7;12) cases, making the reverse transcription PCR approach not an ideal screening method. '), ('245', 'SLC45A3_ETV5', '', 'SLC45A3', 'ETV5', '18172298', '151', 'prostate cancer\r\r', 'FISH;PCR ', '', '', '', '', '', 'KB', 'Seq', 'Characterization of TMPRSS2:ETV5 and SLC45A3:ETV5 gene fusions in prostate cancer..     ///    Characterization of two cases with ETV5 outlier expression by RNA ligase-mediated rapid amplification of cDNA ends identified one case with a TMPRSS2:ETV5 fusion and one case with a SLC45A3:ETV5 fusion. '), ('246', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '12183429', '151', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', '', ' Previous studies of the PAX3-FKHR and PAX7-FKHR gene fusions in alveolar rhabdomyosarcoma (ARMS) indicated that the corresponding fusiontranscripts are not detectable in 20% of ARMS cases.     ///    Additional fluorescence in situ hybridization analysis identified two cases in which a PAX3-FKHR or PAX7-FKHR genomic fusion is present but is not associated with a fusion transcript detectable by RT-PCR.     ///    \"In summary, our analysis of ARMS cases without characteristic PAX3-FKHR or PAX7-FKHR transcripts identified several genetically distinct subsets including low expression or atypical presentation of standard fusions, variant fusions with other genes, and possibly true fusion-negative cases.. \"    ///    \"To investigate the genetic features of this ARMS subset, we identified 23 ARMS cases in which PAX3-FKHR and PAX7-FKHR transcripts were not detected by a standard sensitivity reverse transcription-PCR (RT-PCR) assay. \"    ///    Subsequent analysis with a high sensitivity RT-PCR assay identified low-level expression of PAX3-FKHR or PAX7-FKHR in three cases. '), ('247', 'PAX7_FKHR', '', 'PAX7', 'FKHR', '12183429', '151', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', '', ' Previous studies of the PAX3-FKHR and PAX7-FKHR gene fusions in alveolar rhabdomyosarcoma (ARMS) indicated that the corresponding fusiontranscripts are not detectable in 20% of ARMS cases.     ///    Additional fluorescence in situ hybridization analysis identified two cases in which a PAX3-FKHR or PAX7-FKHR genomic fusion is present but is not associated with a fusion transcript detectable by RT-PCR.     ///    \"In summary, our analysis of ARMS cases without characteristic PAX3-FKHR or PAX7-FKHR transcripts identified several genetically distinct subsets including low expression or atypical presentation of standard fusions, variant fusions with other genes, and possibly true fusion-negative cases.. \"    ///    \"To investigate the genetic features of this ARMS subset, we identified 23 ARMS cases in which PAX3-FKHR and PAX7-FKHR transcripts were not detected by a standard sensitivity reverse transcription-PCR (RT-PCR) assay. \"    ///    Subsequent analysis with a high sensitivity RT-PCR assay identified low-level expression of PAX3-FKHR or PAX7-FKHR in three cases. '), ('248', 'RARA_PML', 't(15;17)  / t(15;17) / ', 'RARA', 'PML', '15771903', '151', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Interphase FISH demonstrated that the fusion gene (PML/RARA) was present in almost all abnormal promyelocytes. '), ('249', 'TMPRSS2_ETV5', '', 'TMPRSS2', 'ETV5', '18172298', '151', 'prostate cancer\r\r', 'FISH;PCR ', '', '', '', '', '', 'KB', 'Seq', 'Characterization of TMPRSS2:ETV5 and SLC45A3:ETV5 gene fusions in prostate cancer..     ///    Characterization of two cases with ETV5 outlier expression by RNA ligase-mediated rapid amplification of cDNA ends identified one case with a TMPRSS2:ETV5 fusion and one case with a SLC45A3:ETV5 fusion. '), ('250', 'PCM1_JAK2', 't(8;9)(p22;p24) / ', 'PCM1', 'JAK2', '18594780', '151', 'acute myeloid leukemia;myeloproliferative disorder;chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Flow cytometry analysis showed evolutional change of immunophenotype from negative to positive HLA-DR expression and fluorescence in situ hybridization (FISH) analysis demonstrated a PCM1-JAK2 fusion gene.     ///     The rare recurrent translocation of (8;9)(p22;p24) with PCM1-JAK2 fusion was recently characterized in diverse hematological malignancies. '), ('251', 'ZC3H7B_BCOR', '', 'ZC3H7B', 'BCOR', '26752546', '151', 'synovial sarcoma;ewing sarcoma;sarcoma\r\r', 'FISH ', '', '', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', '', 'Novel BCOR-MAML3 and ZC3H7B-BCOR Gene Fusions in Undifferentiated Small Blue Round Cell Sarcomas..     ///    \"Indeed, 8/75 (11%) SBRCTs showed distinct BCOR gene rearrangements, with 2 cases each showing either a BCOR-MAML3 or the alternative ZC3H7B-BCOR fusion, whereas no fusion partner was detected in the remaining 4 cases. \"'), ('252', 'ETO_AML1', 't(8;21)  / inv(16) / t(16;16) / inv(16)  / t(8;21) / t(16;16)  / ', 'ETO', 'AML1', '20306685', '151', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH', '', '', '', '', '', '', '', 'Among them 32 patients were studied by FISH for the detection of AML1/ETO fusion gene and 11 patients for the detection of CBFbeta/MYH11. '), ('253', 'RUNX1T1_RUNX1', 't(10;21)(q24;q22) / ', 'RUNX1T1', 'RUNX1', '21380778', '151', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Interphase FISH showed, in 67% of the 300 interphase nuclei analyzed, three signals for RUNX1 and two RUNX1T1, but no signals corresponding to RUNX1-RUNX1T1 fusion gene.     ///    \"These results were corroborated by RT-PCR, which revealed negative results for the amplification of RUNX1-RUNX1T1 fusion gene. \"    ///     Translocation (8;21)(q22;q22)/RUNX1-RUNX1T1 is a molecular marker that is usually associated with a favorable outcome in both pediatric and adult patients with acute myeloid leukemia (AML). '), ('254', 'TPM4_ALK', 't(2;5)(p23;q35) / t(2;5)  / t(2;5) / t(2;19)(p23;p13) / inv(2)  / ', 'TPM4', 'ALK', '15080301', '151', 'anaplastic large cell lymphoma;lymphoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Among 6 variant gene rearrangements, 1 had TPM4-ALK/t(2;19)(p23;p13) and 2 had inv(2) with the breakpoint proximate to ATIC-ALK and an unknown partner gene separately. '), ('255', 'NPM_ALK', 't(2;5)  / t(2;5) / ', 'NPM', 'ALK', '10552961', '150', 'anaplastic large cell lymphoma;lymphoma', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', '', '', 'The absence of the NPM-ALK fusion gene was confirmed by reverse transcriptase-polymerase chain reaction (RT-PCR) in 8 cases and by fluorescence in situ hybridization (FISH) analysis in a further 2 cases.     ///    \"These results suggest that lymphomas carrying variants of the NPM-ALK fusion protein can be detected by immunostaining for ALK and NPM and also that they can be grouped with classical t(2;5)-positive tumors as a single entity (ALK-positive lymphoma or \"\"ALKoma\"\") that shows a better prognosis than ALK-negative anaplastic large-cell lymphoma.. \"    ///    \" The tumor cells in ALK-positive lymphoma (\"\"ALKoma\"\") usually express the product of the NPM-ALK chimeric gene, generated by the t(2;5) chromosomal translocation. \"    ///    \"In each case, ALK staining was restricted to the cytoplasm and the N-terminus of NPM to the nucleus (contrasting with lymphomas expressing NPM-ALK in which cytoplasmic as well as nuclear labeling is seen). \"    ///    \"However, 10% to 20% of ALK-positive lymphomas express ALK fusion protein(s) other than NPM-ALK, and in this report, we describe the immunohistologic and clinicopathologic features of 15 such cases. \"    ///    Lymphomas expressing ALK fusion protein(s) other than NPM-ALK.. '), ('256', 'BCR_ABL1', 't(9;22)(q34;q11) / ', 'BCR', 'ABL1', '18638369', '150', '', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The Ph results in the formation of the BCR/ABL1 fusion gene, which is a constitutively activated tyrosine kinase.     ///    \"BCR/ABL1 formation resulted from a direct insertion (one step mechanism) in 6 patients and CML-T1, while in 3 patients the fusion gene originated from a sequence of rearrangements (multiple steps). \"    ///    Here we present FISH mapping data of BCR and ABL1 flanking regions and associated chromosomal rearrangements in 9 Ph negative BCR/ABL1 positive CML patients plus the cell line CML-T1.     ///    \"Around 1% of CML patients appear to have a Ph negative karyotype but carry a cryptic BCR/ABL1 fusion that can be located by fluorescence in situ hybridisation (FISH) at chromosome 22q11, 9q34 or a third chromosome. \"    ///    \"BCR/ABL1 was located at 9q34 in 3 patients, 22q11 in 5 patients and CML-T1 and 22p11 in 1 patient. \"    ///    FISH mapping of Philadelphia negative BCR/ABL1 positive CML..     ///    Future studies should be performed to confirm the presence of true breakpoint hot spots and assess their implications in Ph negative BCR/ABL1 positive CML.. '), ('257', 'RUNX1_MTG8', 't(16;21)(q24;q22) / del(9)(q22q33) / ', 'RUNX1', 'MTG8', '18656694', '150', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The significant homology between MGT16 and MTG8 suggests that the RUNX1-MTG16 fusion gene induced by the t(16;21)(q24;q22) is a variant of the RUNX1-MTG8 that shares similar activity.. '), ('258', 'TEL_AML1', 't(12;21)(p13;q22) / t(12;21) / t(12;21)  / ', 'TEL', 'AML1', '15289014', '150', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'In this study, bone marrow samples from 30 children with ALL from southern Brazil were evaluated by fluorescence in situ hybridization (FISH) for the t(12;21), using locus specific probes to detect the TEL/AML1 rearrangement. '), ('259', 'KIAA1549_BRAF', '', 'KIAA1549', 'BRAF', '19543740', '149', 'anaplastic astrocytoma;astrocytoma;pilocytic astrocytoma', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Pilocytic astrocytomas carry a duplication at chromosome band 7q34 containing a BRAF-KIAA1549 gene fusion in the majority of cases.     ///    \"We examined a series of 120 astrocytomas including 70 pilocytic astrocytomas WHO grade I and 50 diffuse astrocytomas WHO grade II for both, BRAF-KIAA1549 fusion with a newly developed FISH assay and mutations in IDH1 and IDH2 by direct sequencing. \"'), ('260', 'PAX3_FOXO1', 't(2;13)(q35;q14) / t(1;13)(p36;q14) / ', 'PAX3', 'FOXO1', '19215790', '149', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'These translocations produce the PAX3-FOXO1 and PAX7-FOXO1 fusion genes, respectively. '), ('261', 'PAX7_FOXO1', 't(2;13)(q35;q14) / t(1;13)(p36;q14) / ', 'PAX7', 'FOXO1', '19215790', '149', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'These translocations produce the PAX3-FOXO1 and PAX7-FOXO1 fusion genes, respectively.     ///    \"These translocations produce the PAX3-FOXO1 and PAX7-FOXO1 fusion genes, respectively.\"'), ('262', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '17108102', '149', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'Array-based comparative genomic hybridization and interphase fluorescence in situ hybridization indicated both interstitial deletions and translocations as mechanisms of TMPRSS2:ERG gene fusion.     ///    \"All five androgen-dependent xenografts showed as major transcript overexpression of two splice variants of TMPRSS2:ERG, linking TMPRSS2 exon 1 or 2 sequences to ERG exon 4. \"'), ('263', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '19734849', '149', 'adenocarcinoma\r\r', 'FISH', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2-ERG gene fusion status in minute (minimal) prostatic adenocarcinoma..     ///    \"Given recent suggestions of TMPRSS2-ERG gene fusion association with aggressive prostatic adenocarcinoma, we evaluated the incidence of TMPRSS2-ERG fusion in minute prostatic adenocarcinomas. \"'), ('264', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '20800881', '149', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2-ERG gene fusion was identified more frequently in patients with low Gleason grade (primary Gleason pattern ? 3 or sum of Gleason score ? 7, P = .015 and .027).     ///    TMPRSS2-ERG gene fusion and clinicopathologic characteristics of Korean prostate cancer patients..     ///    Prostate cancer with large cribriform glands revealed rare TMPRSS2-ERG gene fusion..     ///    The fusion rate of the TMPRSS2-ERG gene was 20.9% (53/254). '), ('265', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '26692910', '149', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', ' About half of all prostate cancers harbor the TMPRSS2:ERG (T2E) gene fusion. '), ('266', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '24815454', '149', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', ' TMPRSS2:ERG gene fusions in prostate cancer have a dominant prevalence of approximately 50.0%, but infomration is limited on differences among ethnic and geographical groups.     ///    \"TMPRSS2:ERG, TMPRSS2:ETV1 and TMPRSS2:ETV4 fusions were tested by multi-probe fluorescence in situ hybridization (FISH) assay. \"    ///    \"We evaluated TMPRSS2:ERG, TMPRSS2:ETV1 and TMPRSS2:ETV4 fusions in more than 100 Eastern Chinese prostate cancer patients. \"    ///    There are more deletion pattern than insertion pattern in TMPRSS2:ERG positive cases. '), ('267', 'TFE3_ASPL', '', 'TFE3', 'ASPL', '26975036', '149', 'renal cell carcinoma;alveolar soft part sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Furthermore, among neoplasms with the SFPQ-TFE3, NONO-TFE3, DVL2-TFE3, and ASPL-TFE3 gene fusions, the RCCs are almost always PAX8 positive, cathepsin K negative by immunohistochemistry, whereas the mesenchymal counterparts (Xp11 translocation PEComas, melanotic Xp11 translocation renal cancers, and alveolar soft part sarcoma) are PAX8 negative, cathepsin K positive. '), ('268', 'TCF3_HLF', 't(17;19)(q22;p13) / ', 'TCF3', 'HLF', '23181981', '149', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'A novel TCF3-HLF fusion transcript in acute lymphoblastic leukemia with a t(17;19)(q22;p13)..     ///    Whether the type 3 chimeric transcript has the same DNA binding and transcriptional regulatory effect as type 1 and type 2 TCF3-HLF chimeras remains to be seen..     ///    Polymerase chain reaction and sequencing analyses demonstrated the presence of two in-frame chimeric TCF3-HLF transcripts.     ///    accession number NM_002126 version 4) with the generation of a TCF3-HLF chimera. '), ('269', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '20512480', '149', 'chordoma', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Furthermore, tumors were screened for gene fusions (PAX3-FKHR, ASPL-TFE3, and SYT-SSX) previously shown to be associated with MET activation in sarcomas.     ///    \"PAX3-FKHR, ASPL-TFE3, or SYT-SSX gene fusions were not demonstrable (n = 52). \"    ///    \"fluorescence in situ hybridization (FISH) with a dual-color DNA probe (7q31) for MET amplification was performed on TMA sections and RT-PCR for PAX3-FKHR, ASPL-TFE3 (type 1 + 2), and SYT-SSX (type 1 + 2) gene fusions on punch biopsies. \"'), ('270', 'TFE3_DVL2', '', 'TFE3', 'DVL2', '26975036', '149', 'renal cell carcinoma;alveolar soft part sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Furthermore, among neoplasms with the SFPQ-TFE3, NONO-TFE3, DVL2-TFE3, and ASPL-TFE3 gene fusions, the RCCs are almost always PAX8 positive, cathepsin K negative by immunohistochemistry, whereas the mesenchymal counterparts (Xp11 translocation PEComas, melanotic Xp11 translocation renal cancers, and alveolar soft part sarcoma) are PAX8 negative, cathepsin K positive.     ///    \"We also describe the first RCC with a DVL2-TFE3 gene fusion, in addition to an extrarenal pigmented PEComa with a NONO-TFE3 gene fusion. \"'), ('271', 'TFE3_ASPL', '', 'TFE3', 'ASPL', '20512480', '149', 'chordoma', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'PAX3-FKHR, ASPL-TFE3, or SYT-SSX gene fusions were not demonstrable (n = 52).     ///    \"Furthermore, tumors were screened for gene fusions (PAX3-FKHR, ASPL-TFE3, and SYT-SSX) previously shown to be associated with MET activation in sarcomas. \"    ///    \"fluorescence in situ hybridization (FISH) with a dual-color DNA probe (7q31) for MET amplification was performed on TMA sections and RT-PCR for PAX3-FKHR, ASPL-TFE3 (type 1 + 2), and SYT-SSX (type 1 + 2) gene fusions on punch biopsies. \"'), ('272', 'LPXN_ETV6', 't(11;12) / t(7;11)(p15;p15) / ', 'LPXN', 'ETV6', '26542893', '149', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'ETV6-LPXN fusion transcript generated by t(11;12)(q12.1;p13) in a patient with relapsing acute myeloid leukemia with NUP98-HOXA9..     ///    We show here for the first time that LPXN is a fusion partner of ETV6 and present evidence indicating that ETV6-LPXN plays a crucial role in leukemia progression through enhancing the response to G-CSF and CXCL12..     ///    The 32D and human leukemia cell lines each transduced with ETV6-LPXN showed enhanced migration towards the chemokine CXCL12.     ///    \"ETV6-LPXN, an in-frame fusion between exon 4 of ETV6 and exon 2 of LPXN, did not transform the interleukin-3-dependent 32D myeloid cell line to cytokine independence. \"'), ('273', 'TEL_AML1', 't(12;21) (p13;q22) / t(12;21)(p13;q22) / ', 'TEL', 'AML1', '11801311', '148', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'The FISH analysis revealed six patients with the fusion gene TEL/AML1 on chromosome 21, three of whom possessed a double fusion gene. '), ('274', 'TIF2_MOZ', 'inv(8)(p11q13) / t(8;16)(p11;p13) / ', 'TIF2', 'MOZ', '9731070', '148', 'leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'The reciprocal TIF2-MOZ fusion gene is not expressed, perhaps as a result of a deletion near the chromosome 8 centromere.     ///    \"The MOZ-TIF2 fusion is one of a new family of chromosomal rearrangements that associate HAT activity, transcriptional coactivation, and acute leukemia.. \"'), ('275', 'TFE3_PSF', '', 'TFE3', 'PSF', '23224603', '148', 'perivascular epithelioid cell tumors', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Reverse transcriptase-polymerase chain reactions (RT-PCR) for ASPL/TFE3, PRCC/TFE3, CLTC/TFE3, PSF/TFE3, and NonO/TFE3 gene fusions all revealed negative results. '), ('276', 'RARA_PML', 't(15;17) / ', 'RARA', 'PML', '12550769', '148', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'We used RARA FISH at the initial diagnosis (16 cases) and follow-up of APL patients (21 cases) with t(15;17), though RARA FISH was originally designed to detect translocations involving the RARA gene rather than t(15;17), and compared the results with those of PML/RARA FISH.     ///    \"In conclusion, we believe that once the PML/RARA rearrangement is confirmed either by G-banding or FISH, RARA FISH is more effective than PML/RARA during the follow-up of APL after treatment.. \"    ///    \"Although PML/RARA fluorescence in situ hybridization (FISH) can help, the major drawback of FISH is its high false positive rate, which reaches up to 5-10%. \"    ///    \"By conducting RARA FISH, we were able to significantly resolve the difficulty in interpreting results around cut-off value in PML/RARA FISH. \"    ///    A reference range for PML/RARA and RARA FISH was set using 50 normal control specimens.     ///    \"Using a RARA split probe, we were able to lower the reference range for RARA rearrangement down to 1.5%, which is significantly lower than that of PML/RARA (8%). \"    ///    \"Actually 74.2% (46/62 cases) of cases with positive signals of the PML/RARA rearrangement by the PML/RARA probe, showed absolutely negative results with the RARA split probe. \"    ///    RARA fluorescence in situ hybridization overcomes the drawback of PML/RARA fluorescence in situ hybridization in follow-up of acute promyelocytic leukemia.. '), ('277', 'OTT_MAL', 't(1;22)  / t(1;22)(p13;q13) / ', 'OTT', 'MAL', '11746984', '148', 'leukemia\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'We have recently characterized a fusion gene, OTT-MAL, resulting from this translocation.     ///    Recurrence of OTT-MAL fusion in t(1;22) of infant AML-M7.. '), ('278', 'NFIB_MYB', 't(6;9)  / t(1;6)  / ', 'NFIB', 'MYB', '21709671', '148', 'adenoid cystic carcinoma\r\r', 'FISH ', '', '', '', '', '', 'KB', '', 'As ACC is known to frequently contain a t(6;9) translocation that fuses the MYB and NFIB genes, fluorescence in situ hybridization (FISH) of 12 ACC xenograft models was performed that assayed MYB locus break-apart and MYB-NFIB locus fusion. '), ('279', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '20878952', '147', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2-ERG gene fusion prevalence and class are significantly different in prostate cancer of Caucasian, African-American and Japanese patients..     ///    Future studies of the molecular pathways implicated in TMPRSS2-ERG gene fusion may shed light on the disparity in prevalence and mortality of PCa among different ethnic groups and help design better prevention and treatment strategies..     ///    \"A multivariate analysis demonstrated that TMPRSS2-ERG gene fusion correlated with the ethnicity (P=0.03), marginally correlated with the pathologic stage (P=0.06), but not other clinicopathologic parameters, including age, preoperative PSA levels, and Gleason score. \"    ///    \"We examined the prevalence and class of TMPRSS2-ERG gene fusion in PCa from Caucasian, African-American, and Japanese patients. \"    ///    \"TMPRSS2-ERG gene fusion was present in 50% (21/42) of Caucasians, 31.3% (20/64) of African-Americans, and 15.9% (7/44) of Japanese (P=0.003). \"    ///    \"The prevalence and class of TMPRSS2-ERG are significantly different in PCa of Caucasian, African-American, and Japanese patients. \"'), ('280', 'PBX1_E2A', 't(1;19)  / t(1;19)(q23;p13) / 19p13.3 / ', 'PBX1', 'E2A', '9494609', '147', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', '', '', 'Moreover, the expressions of PBX1 or E2A/PBX1 fusion genes were not detected by an extensive study with Northern blot analysis and reverse transcription-polymerase chain reaction. '), ('281', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '21156244', '147', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH;PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', ' Although a normal karyotype according to conventional cytogenetic analysis in association with cryptic t(15;17) has been infrequently reported in cases of acute promyelocytic leukemia (APL), a fluorescence in situ hybridization (FISH)-negative cryptic PML-RARA rearrangement is even more rare, with only 12 such APL cases of FISH-negative cryptic PML-RARA rearrangements in the literature.     ///    \"Reported here is an additional clinical APL case with a FISH-negative cryptic PML-RARA rearrangement, confirmed by long-distance DNA polymerase chain reaction method. \"    ///    FISH-negative cryptic PML-RARA rearrangement detected by long-distance polymerase chain reaction and sequencing analyses: a case study and review of the literature.. '), ('282', 'FLI_EWS', 't(11;22)(q24;q12) / t(11;22)  / ', 'FLI', 'EWS', '10088552', '147', 'rhabdomyosarcoma;neuroectodermal tumor;ewing sarcoma;neuroblastoma;sarcoma;lymphoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', ' The balanced translocation t(11;22)(q24;q12) is specific for the Ewing\'s sarcoma/peripheral primitive neuroectodermal tumors (ES/PNETs) and results in the EWS/FLI-1 fusion transcript, which can be detected by reverse transcription polymerase chain reaction (RT-PCR). '), ('283', 'ETV6_CBFA2', 't(12;21) / del(9p)  / t(12;21)  / del(6q)  / del(9p) / ', 'ETV6', 'CBFA2', '10914938', '147', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Fluorescence in situ hybridization (FISH) was used to identify cases with t(12;21), 11q23 rearrangements, and 9p deletions, using probes for ETV6/CBFA2, MLL, and CDKN2A/B, in 72 cases from which cells in fixative and/or unstained metaphase preparations were available. '), ('284', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '17059688', '146', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'Importantly, by fluorescence in situ hybridization, we confirmed the presence or the absence of TMPRSS2:ERG gene fusions in matched prostate cancer tissue samples from three of three patients with fusion transcripts in their urine and from two of two patients without fusion transcripts in their urine.     ///    These results demonstrate that TMPRSS2:ERG gene fusions can be detected in the urine of patients with prostate cancer and support larger studies on prospective cohorts for noninvasive detection of prostate cancer..     ///    \"We observed a strong concordance between ERG overexpression and TMPRSS2:ERG expression, with 8 of 19 (42%) patients having detectable TMPRSS2:ERG transcripts in their urine. \"    ///    \"We observed a strong concordance between ERG overexpression and TMPRSS2:ERG expression, with 8 of 19 (42%) patients having detectable TMPRSS2:ERG transcripts in their urine.\"    ///    \"By quantitative polymerase chain reaction, we assessed the expression of ERG and TMPRSS2:ERG transcripts in urine samples obtained after prostatic massage from 19 patients (11 prebiopsy and 8 pre-radical prostatectomy) with prostate cancer. \"'), ('285', 'SEPT9_MLL', 't(11;17)(q23;q25) / del(6) / t(1;6) / p36.3;q23 / ', 'SEPT9', 'MLL', '20682395', '146', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', ' We report a case of acute myeloid leukemia (AML) with two unrelated clones, one of which was t(11;17)(q23;q25) carrying MLL-SEPT9 fusion transcripts.     ///    Emergence of two unrelated clones in acute myeloid leukemia with MLL-SEPT9 fusion transcript..     ///    Reverse transcriptase-polymerase chain reaction and sequencing analyses demonstrated MLL-SEPT9 fusion transcripts with the breakpoint of MLL exon 8/SEPT9 exon 2 and MLL exon 9/SEPT9 exon 2. '), ('286', 'TRIP11_PDGFRB', 't(5;14)(q33;q32) / ', 'TRIP11', 'PDGFRB', '25606057', '146', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', '', '', 'Receptor', '', 'KB', '', 'The TRIP11-PDGFRB fusion was identified in a patient with therapy-related myeloid neoplasm with t(5;14)(q33;q32) after treatment of APL using conventional cytogenetics, fluorescence in situ hybridization (FISH) and molecular methods.     ///    TRIP11-PDGFRB fusion in a patient with a therapy-related myeloid neoplasm with t(5;14)(q33;q32) after treatment for acute promyelocytic leukemia..     ///    We firstly demonstrated that therapy-related myeloid neoplasm with TRIP11-PDGFRB fusion was identified after treatment of APL.. '), ('287', 'TEL_AML1', 't(9;22)(q34;q11) / t(12;21)(p13;q22) / ', 'TEL', 'AML1', '18271061', '146', '', 'FISH', '', '', '', '', '', '', '', 'Among structural chromosomal abnormalities, t(9;22)(q34;q11) resulting in the BCR/ABL fusion and the t(12;21)(p13;q22) resulting in the TEL/AML1 fusion were studied by FISH providing additional diagnostic and prognostic information. '), ('288', 'RARA_PML', 't(15;17)  / t(15;17) / ', 'RARA', 'PML', '19893344', '146', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH;PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', '[Detection of PML/RARA rearrangement by reverse transcriptase-PCR and sequencing in a case of microgranular acute promyelocytic leukemia lacking t(15;17) on karyotype and FISH].. '), ('289', 'PBX1_E2A', 't(1;19) / 19p13.3 / ', 'PBX1', 'E2A', '15801954', '146', '', 'FISH ', '', '', '', '', 'Transcription_Factor', '', '', 'Interphase FISH to detect PBX1/E2A fusion resulting from the der(19)t(1;19)(q23;p13.3) or t(1;19)(q23;p13.3) in paediatric patients with acute lymphoblastic leukaemia.. '), ('290', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '25834096', '146', 'hematologic malignancy\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Therefore, routine cytogenetic diagnostics should be complemented by FISH with break-apart probes for potentially rearranged genes (e.g., CBFB, ETV6) and unique probes for fusion genes (e.g., FIP1L1-PDGFRA), specific for hypereosinophilia-associated diseases. '), ('291', 'BCR_ABL1', 't(9;22) / t(9;22)  / ', 'BCR', 'ABL1', '21431633', '146', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'This rearrangement generates the BCR-ABL1 fusion gene that characterizes leukemic cells in all CML cases.     ///    \"Because new frontline therapies such as imatinib specifically target the abnormal protein product of the BCR-ABL1 fusion gene to eliminate BCR-ABL1 positive cells, there is a new reliance on the cytogenetic evaluation of bone marrow cells at diagnosis, then at regular posttreatment intervals. \"    ///    \"In about 90% of cases, the BCR-ABL1 rearrangement is manifest cytogenetically by the Philadelphia (Ph) chromosome, a derivative of the reciprocal translocation t(9;22)(q34;q11.2). \"'), ('292', 'EWSR1_CREB3L1', '', 'EWSR1', 'CREB3L1', '23588368', '146', 'sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'We report 2 cases of LGFMS serendipitously found to harbor a novel alternative EWSR1-CREB3L1 gene fusion, as confirmed by DNA sequencing of reverse transcriptase-polymerase chain reaction products and fluorescence in situ hybridization.     ///    EWSR1-CREB3L1 gene fusion: a novel alternative molecular aberration of low-grade fibromyxoid sarcoma.. '), ('293', 'DUX4_CIC', 't(4;19)(q35;q13) / ', 'DUX4', 'CIC', '19837261', '145', 'sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Detailed cytogenetic and array analysis of pediatric primitive sarcomas reveals a recurrent CIC-DUX4 fusion gene event..     ///    \"Molecular and cytogenetic techniques for the detection of the CIC-DUX4 fusion gene are described, to aid in recognition and diagnosis.. \"'), ('294', 'RARA_NPM', 't(15;17) / t(11;17)(q23;q21) / t(5;17) / t(5;17)(q13;q21) / ', 'RARA', 'NPM', '10942371', '145', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'In the other with an unbalanced der(5)t(5;17)(q13;q21) and a nucleolar NPM localization pattern, an NPM/RAR alpha rearrangement was excluded, and FISH revealed deletion of one RAR alpha allele.     ///    \"Two patients were found to have t(5;17), one with a diffuse nuclear NPM staining pattern and with NPM-RAR alpha and RAR alpha-NPM transcripts detected. \"'), ('295', 'BCR_ABL1', '', 'BCR', 'ABL1', '9648560', '145', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' We report cytogenetic, fluorescence in situ hybridization (FISH), and molecular analysis in a case of Ph-negative chronic myelogenous leukemia patient with ABL/BCR fusion gene on chromosome 9 and a disparate FISH signal pattern using two commercially available bcr/abl probes (Vysis, Inc.     ///    The ABL/BCR fusion gene on chromosome 9 in Ph-negative chronic myelogenous leukemia: a case for vigilance in fluorescence in situ hybridization interpretation..     ///    \"Subsequently, a FISH study with the Oncor major (M)-bcr/abl translocation probe confirmed the ABL/BCR fusion signal on chromosome 9 in addition to an ABL signal and a BCR signal located on chromosomes 9 and 22, respectively. \"    ///    \"However, examination of metaphases revealed the ABL/BCR fusion signal on one of the chromosomes 9, an ABL signal on the other chromosome 9, and two BCR signals of different sizes on each of the chromosomes 22. \"');
INSERT INTO `ChimerPub_dump` VALUES ('296', 'NPM_ALK', 't(2;5)(p23;q35) / t(2;5)  / t(2;5) / ', 'NPM', 'ALK', '9057650', '145', 'Hodgkin disease;non Hodgkin Lymphoma', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'This NPM-ALK FISH assay was initially validated by analysis of a series of cytogenetically characterized cell lines, with the presence of the der(5) chromosome showed specifically only in those lines known to contain the t(2;5).     ///    Detection of the t(2;5)(p23;q35) and NPM-ALK fusion in non-Hodgkin\'s lymphoma by two-color fluorescence in situ hybridization.. '), ('297', 'RARA_PML', 't(15;17)  / t(15;17) (q22;q12) / ', 'RARA', 'PML', '16797070', '145', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Identification of PML-RARA rearrangement by RT-PCR and sequencing in an acute promyelocytic leukemia without t(15;17) on G-banding and FISH..     ///    \"t(15;17) was not evident on FISH tests, while RT-PCR and cDNA sequencing revealed the presence of PML-RARA transcripts.. \"'), ('298', 'TMPRSS2_ETV4', '', 'TMPRSS2', 'ETV4', '16585160', '144', 'prostate cancer\r\r', 'FISH;PCR ', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2:ETV4 gene fusions define a third molecular subtype of prostate cancer.. '), ('299', 'EML4_ALK', '', 'EML4', 'ALK', '22742552', '144', 'non small cell lung cancer;adenocarcinoma\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Echinoderm microtubule-associated proteinlike 4-anaplastic lymphoma kinase (EML4-ALK) gene fusions are detected in 3% to 13% of non-small cell lung carcinomas.     ///    \"To compare reverse transcription-polymerase chain reaction (RT-PCR), immunohistochemistry (IHC), and fluorescence in situ hybridization (FISH) methodologies for detection of EML4-ALK fusions.\"    ///    \"To compare reverse transcription-polymerase chain reaction (RT-PCR), immunohistochemistry (IHC), and fluorescence in situ hybridization (FISH) methodologies for detection of EML4-ALK fusions. \"    ///    \"EML4-ALK variant 3a/b was detectable by RT-PCR, FISH, and IHC in 4% (2 of 46) of specimens.\"    ///    \"EML4-ALK variant 3a/b was detectable by RT-PCR, FISH, and IHC in 4% (2 of 46) of specimens. \"    ///    No concordance existed among methodologies for the detection of EML4-ALK variant 1.    ///    One EML4-ALK variant 1 fusion was found to coexist with an EGFR exon 21 mutation.    ///    \"Overall, the frequency of EML4-ALK variants 1 and 3a/b was 24% (11 of 46) in adenocarcinomas enriched for wild-type EGFR status. \"    ///    The RT-PCR method was the most sensitive and least-subjective methodology for detection of EML4-ALK fusions..     ///    Accurate testing for detection of EML4-ALK fusions is essential for appropriate therapy selection. '), ('300', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '17527075', '144', 'prostate cancer', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'If we consider the high incidence of PCA and the high frequency of this gene fusion, TMPRSS2-ERG is the most common genetic aberration so far described in human malignancies. '), ('301', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '25252136', '144', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'Prevalence and prognostic significance of TMPRSS2-ERG gene fusion in lymph node positive prostate cancers..     ///     TMPRSS2-ERG gene fusion is the most frequent genetic alteration in prostate cancer.     ///    Concordance in TMPRSS2-ERG status between primary tumors and metastases was 70.9% (Kappa 0.39). '), ('302', 'TP63_TBL1XR1', '', 'TP63', 'TBL1XR1', '22496164', '144', 'non Hodgkin lymphoma;follicular lymphoma;B cell lymphoma;lymphoma\r\r', 'FISH', '', '', '', '', 'Transcription_Factor', '', '', 'TBL1XR1/TP63: a novel recurrent gene fusion in B-cell non-Hodgkin lymphoma.. '), ('303', 'WWTR1_CAMTA1', 't(1;3)(p36;q25) / ', 'WWTR1', 'CAMTA1', '21885404', '144', 'sarcoma;epithelioid hemangioendothelioma;epithelioid hemangioendothelioma\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', '', '', 'This WWTR1/CAMTA1 gene fusion is under the transcriptional control of the WWTR1 promoter and encodes a putative chimeric transcription factor that joins the amino terminus of WWTR1, a protein that is highly expressed in endothelial cells, in-frame to the carboxyl terminus of CAMTA1, a protein that is normally expressed only in brain.     ///    The chimeric WWTR1/CAMTA1 transcription factor may represent a therapeutic target for EHE and offers the opportunity to shed light on the functions of two poorly characterized proteins.. '), ('304', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '21743434', '144', 'prostate cancer;adenocarcinoma\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'Each tissue microarray spot was scored for the presence of TMPRSS2-ERG gene fusion and for ERG gene copy number gains.     ///     The role of TMPRSS2-ERG gene fusion in prostate cancer prognostication remains controversial. '), ('305', 'KIAA1549_BRAF', '', 'KIAA1549', 'BRAF', '26083571', '144', 'pilocytic astrocytoma', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'KIAA1549: BRAF Gene Fusion and FGFR1 Hotspot Mutations Are Prognostic Factors in Pilocytic Astrocytomas..     ///    \"In summary, we confirmed the high frequency of KIAA1549:BRAF fusion in PAs and its association with a better outcome. \"    ///    We assessed KIAA1549:BRAF fusion by fluorescence in situ hybridization and BRAF (exon 15) mutations by capillary sequencing.     ///    KIAA1549:BRAF fusion was identified in almost 60% of cases. '), ('306', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '12800152', '144', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' Previous studies on concordant acute lymphoblastic leukemia (ALL) in identical twins have identified the leukemia as monoclonal with MLL or ETV6-RUNX1 gene fusion as early or initiating events in utero. '), ('307', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '21160474', '144', '', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Here we have examined this issue in childhood acute lymphoblastic leukaemia in which the ETV6-RUNX1 gene fusion is an early or initiating genetic lesion followed by a modest number of recurrent or \'driver\' copy number alterations. '), ('308', 'KIAA1549_BRAF', '', 'KIAA1549', 'BRAF', '21046410', '144', 'fibrillary astrocytoma', 'FISH;PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Recent studies of genetic abnormalities in pediatric low-grade gliomas (LGGs) have focused on activation of the ERK/MAPK pathway by KIAA1549-BRAF gene fusions in the majority of pilocytic astrocytomas (PAs) and by rare mutations in elements of the pathway across histopathologically diverse LGGs. '), ('309', 'PBX3_EWSR1', '', 'PBX3', 'EWSR1', '25231231', '144', 'myoepithelial tumors', 'FISH ', '', '', '', '', 'Transcription_Factor', '', '', 'Thus, two additional cases were identified showing an EWSR1-PBX3 gene fusion.     ///    \"In summary, we report a novel EWSR1-PBX3 gene fusion in a small subset of ME, thereby expanding the spectrum of EWSR1-related gene fusions seen in these tumors. \"    ///    EWSR1-PBX3: a novel gene fusion in myoepithelial tumors..     ///    \"We investigated by RNA sequencing an index case of EWSR1-rearranged ME of the tibia, lacking a known fusion partner, and identified a novel EWSR1-PBX3 fusion. \"    ///    \"The morphology of the EWSR1-PBX3 fusion positive cases showed similar findings, with nests or sheets of epithelioid to spindle cells in a partially myxoid to collagenous matrix. \"'), ('310', 'SEC31L1_ALK', 't(2;4)(p23;q21) / ', 'SEC31L1', 'ALK', '16161041', '143', '', 'FISH;PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'In the present study, we describe the finding of a novel SEC31L1/ALK fusion gene in an intraabdominal IMT of a young man.     ///    \"RT-PCR with two sets of primer pairs specific for SEC31L1 and ALK amplified two transcripts, which at sequencing corresponded to two types of chimeric SEC31L1/ALK transcripts. \"'), ('311', 'BCR_ABL1', 't(7;17)(p15;q23) / t(7;17)(q32-34;q23) / ', 'BCR', 'ABL1', '12649177', '143', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The pathogenetic role of the P210 BCR/ABL1 fusion gene in the chronic phase of chronic myeloid leukemia (CML) has been well established.In contrast, the genetic mechanisms underlying the disease progression into the accelerated phase (AP) and the final blast crisis (BC) remain poorly understood. '), ('312', 'SSX1_SS18', 'p11.2;q11.2 / ', 'SSX1', 'SS18', '15208645', '143', 'synovial sarcoma;sarcoma\r\r', 'FISH;PCR', '', '', '', '', '', 'KB', '', 'In order to obtain an alternative tool to diagnose and follow this malignancy, we developed a fluorescence in situ hybridization (FISH) assay that could distinguish between the two most common fusion genes, that is, SS18-SSX1 and SS18-SSX2. '), ('313', 'IGH_BCL1', 't(11;14)(q13;q32) / t(11;14)  / ', 'IGH', 'BCL1', '9674745', '143', 'mantle cell lymphoma;lymphoma\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'BCL1-IgH rearrangement was only seen in 1/62 (2%) of cases overall and in none of the t(11;14) cases, which demonstrated FISH breakpoints both centromeric and telomeric to the BCL1/MTC, suggesting that, if genomic clustering exists in t(11;14) SLVL, it differs from MCL.     ///    \" In order to characterize the genetic diversity in splenic lymphoma with villous lymphocytes (SLVL), we have undertaken cytogenetic and molecular analyses of CCND1 expression and BCL1-IgH PCR rearrangement in 76 cases diagnosed predominantly on morphological criteria. \"'), ('314', 'ETO_AML1', 'inv(16) / ', 'ETO', 'AML1', '25543469', '143', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'The CD200 and immunophenotypes were detected by flow cytometry, the chromosome karyotypes were determined by R banding, the FISH was used to measure the AML1/ETO, PML/RARa and inv(16), and PCR technique was used to detect the fusion genes AML1/ETO and PML/RAR?. '), ('315', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '21773753', '143', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', ' TMPRSS2-ERG, the most common gene fusion in prostate cancer, is associated with expression of a truncated protein product of the oncogene ERG. '), ('316', 'NUP98_HOXC11', 't(11;12)(p15;q13) / ', 'NUP98', 'HOXC11', '19665072', '143', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', '', 'KB', '', 'We designed a specific double-color double-fusion FISH assay to discriminate between this t(11;12)(p15;q13) and those producing NUP98-HOXC11 or NUP98-HOXC13. '), ('317', 'TEL_AML1', 't(12;21) / t(1;19)(p13;q13) / ', 'TEL', 'AML1', '11297764', '143', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH', '', '', '', '', '', '', '', 'In five cases the presence of the TEL-AML1, t(12;21), fusion product was detected by FISH. '), ('318', 'MTC_BCL1', 't(11;14)(q13;q32) / t(11;14)  / ', 'MTC', 'BCL1', '9674745', '143', 'mantle cell lymphoma;lymphoma\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'BCL1-IgH rearrangement was only seen in 1/62 (2%) of cases overall and in none of the t(11;14) cases, which demonstrated FISH breakpoints both centromeric and telomeric to the BCL1/MTC, suggesting that, if genomic clustering exists in t(11;14) SLVL, it differs from MCL. '), ('319', 'BCL2_IGH', 't(14;18) / t(14;18)(q32;q21) / t(14;18)  / ', 'BCL2', 'IGH', '24744643', '143', 'leukemia;follicular lymphoma;lymphoma\r\r', 'FISH;PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Molecular Evaluation of t(14;18)(bcl-2/IgH) Translocation in Follicular Lymphoma at Diagnosis Using Paraffin-Embedded Tissue Sections.. '), ('320', 'WT1_EWSR1', '', 'WT1', 'EWSR1', '25454478', '143', 'glomus tumor\r\r', 'FISH ', '', '', '', '', '', 'KB', '', 'Subsequent molecular analysis showed the presence of an EWSR1-WT1 gene fusion by fluorescence in situ hybridization, which was confirmed by reverse- transcriptase polymerase chain reaction.     ///    \"To our knowledge, this is the first case reported with EWSR1-WT1 fusion in a small round blue cell tumor with smooth muscle differentiation and an indolent course.. \"    ///    Low-grade small round cell tumor of the cauda equina with EWSR1-WT1 fusion and indolent clinical course.. '), ('321', 'ETO_AML1', 't(8;21) / t(8;21)  / ', 'ETO', 'AML1', '11334611', '143', 'leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Because of the uncommon morphology of blasts for AML with t(8;21), and absence of AML1-ETO fusion in the RT-PCR analysis, fluorescence in situ hybridization (FISH) was applied to precise the abnormality.     ///    \"FISH revealed a complex rearrangement involving chromosomes 7, 21 and 8, and involvement of the AML1 gene without evidence of AML1-ETO fusion. \"'), ('322', 'PAX7_FOXO1A', '', 'PAX7', 'FOXO1A', '14697639', '142', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', ' Alveolar rhabdomyosarcomas (ARMS) are soft-tissue tumors that are genetically characterized by the presence of reciprocal translocations that generate the fusion gene PAX3-FOXO1A or PAX7-FOXO1A.     ///    \"RMZ-RC2 cell line, positive for the PAX7-FOXO1A, was in the near-tetraploid range with only nonclonal structural rearrangements, amplification of the hybrid gene, 24 DNA changes by CGH, and 8 gene copy changes, confirming the previously reported high-level amplification of MYCN.. \"'), ('323', 'PAX3_FOXO1A', '', 'PAX3', 'FOXO1A', '14697639', '142', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', ' Alveolar rhabdomyosarcomas (ARMS) are soft-tissue tumors that are genetically characterized by the presence of reciprocal translocations that generate the fusion gene PAX3-FOXO1A or PAX7-FOXO1A.     ///    \"The RH30 cell line, positive for the PAX3-FOXO1A fusion gene, was found to be highly complex: wide range of chromosome number, more than 50 chromosome rearrangements, amplification of the hybrid gene, 24 DNA changes detected by conventional CGH, and 21 gene copy changes detected by microarray CGH (including several high-level amplifications). \"'), ('324', 'WWTR1_CAMTA1', '', 'WWTR1', 'CAMTA1', '25680571', '142', 'epithelioid hemangioendothelioma;epithelioid hemangioendothelioma\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', ' Epithelioid hemangioendothelioma is a rare vascular tumor of borderline malignancy characterized by recurrent WWTR1-CAMTA1 gene fusions in approximately 90 % of cases.     ///    \"In addition, a recurrent YAP1-TFE3 gene fusion has been identified in WWTR1-CAMTA1 negative epithelioid hemangioendotheliomas. \"'), ('325', 'YAP1_TFE3', '', 'YAP1', 'TFE3', '25680571', '142', 'epithelioid hemangioendothelioma;epithelioid hemangioendothelioma\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', 'In addition, a recurrent YAP1-TFE3 gene fusion has been identified in WWTR1-CAMTA1 negative epithelioid hemangioendotheliomas.     ///    We report a case of a YAP1-TFE3 translocated epithelioid hemangioendothelioma arising in a groin lymph node in a 29-year-old male.     ///    YAP1-TFE3 epithelioid hemangioendothelioma: a case without vasoformation and a new transcript variant.. '), ('326', 'BCR_ABL1', 't(9;16;22) / ', 'BCR', 'ABL1', '14623460', '142', 'leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'it involved the insertion of the 3\' ABL into BCR on an apparently normal chromosome 22, resulting in the BCR-ABL fusion gene. '), ('327', 'TFE3_NONO', '', 'TFE3', 'NONO', '26975036', '142', 'renal cell carcinoma;alveolar soft part sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', '', '', 'We also describe the first RCC with a DVL2-TFE3 gene fusion, in addition to an extrarenal pigmented PEComa with a NONO-TFE3 gene fusion.     ///    \"Furthermore, among neoplasms with the SFPQ-TFE3, NONO-TFE3, DVL2-TFE3, and ASPL-TFE3 gene fusions, the RCCs are almost always PAX8 positive, cathepsin K negative by immunohistochemistry, whereas the mesenchymal counterparts (Xp11 translocation PEComas, melanotic Xp11 translocation renal cancers, and alveolar soft part sarcoma) are PAX8 negative, cathepsin K positive. \"    ///    \"We provide the first morphologic description of the NONO-TFE3 RCC, which frequently demonstrates subnuclear vacuoles leading to distinctive suprabasal nuclear palisading. \"'), ('328', 'TFE3_ASPL', '', 'TFE3', 'ASPL', '22523215', '142', 'renal cell carcinoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'With fluorescence in situ hybridization and polymerase chain reaction, only 2 cases showed alterations of the X chromosome and the ASPL-TFE3 gene fusion, respectively. '), ('329', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '21814574', '142', 'prostate cancer\r\r', 'FISH;PCR', '', '', '', '', '', 'KB', 'Seq', ' A large percentage of prostate cancers harbor TMPRSS2-ERG gene fusions, leading to aberrant overexpression of the transcription factor ERG. '), ('330', 'PDGFB_COL1A1', 't(5;8)  / t(17;22) / 8p21.2 / ', 'PDGFB', 'COL1A1', '18253748', '141', 'dermatofibrosarcoma protuberans;sarcoma\r\r', 'FISH ', '', 'Oncogene', '', '', '', 'KB', '', 'This is the first report of a DFSP case where the lack of chromosomes 17 and 22 rearrangement and the absence of COL1A1-PDGFB fusion gene have been demonstrated.     ///    \"So far, the COL1A1-PDGFB fusion gene remains the sole fusion gene identified in DFSP. \"    ///    Complex t(5;8) involving the CSPG2 and PTK2B genes in a case of dermatofibrosarcoma protuberans without the COL1A1-PDGFB fusion..     ///    \"So far, the COL1A1-PDGFB fusion gene remains the sole fusion gene identified in DFSP.\"    ///    \"Although rare, the existence of cases of DFSP negative for the COL1A1-PDGFB fusion has to be taken in consideration when performing molecular diagnosis for a tumor suspected to be a DFSP.. \"'), ('331', 'SYT_SSX2', 'p11.2;q11.2 / ', 'SYT', 'SSX2', '18992642', '141', 'synovial sarcoma;sarcoma\r\r', 'FISH', '', '', '', '', '', '', '', 'We uncovered a complex cryptic rearrangement that gives rise to the characteristic SYT-SSX2 fusion gene in a monophasic synovial sarcoma..     ///    Cryptic chromosome rearrangement resulting in SYT-SSX2 fusion gene in a monophasic synovial sarcoma..     ///    \"Comparative genomic hybridization detected losses of Xq21qter, 18p, and 18q12qter, indicating that the marker also contained DNA sequences from Xp22q21, and reverse-transcription polymerase chain reaction demonstrated a SYT-SSX2 fusion transcript. \"'), ('332', 'IGH_BCL6', 't(3;14)(q27;q32) / t(3;14)  / p13;q24.1 / ', 'IGH', 'BCL6', '9398863', '141', 'non Hodgkin lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', '', '', '', 'BCL6/IgH fusion gene was also demonstrated in interphase nuclei at a frequency of 23% to 91.5% over the cut-off value in control studies (9.0 +/- 2.76%).     ///    Interphase detection of BCL6/IgH fusion gene in non-Hodgkin lymphoma by fluorescence in situ hybridization.. '), ('333', 'MALT1_API2', 't(11;18)(q21;q21) / t(1;14)(p22;q32) / t(14;18) (q32;q21) / ', 'MALT1', 'API2', '21055028', '141', 'MALT lymphoma;B cell lymphoma;lymphoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Fifty seven paraffin-embedded ocular MALT lymphoma specimens from patients in southern China were studied by interphase fluorescence-in-situ hybridization (FISH) for genetic aberrations including t(11;18)(q21;q21)/API2-MALT1, t(1;14)(p22;q32)/IgH-bcl-10, t(14;18) (q32;q21)/IgH-MALT1 and bcl-6/FOXP1 gene translocations.     ///    \"Amongst the 57 cases studied, 9 cases (15.8%) showed chromosome translocations, including 4 cases (7.0%) of t(11;18)(q21;q21)/API2-MALT1, 1 case (1.8%) of t(14;18) (q32;q21)/IgH-MALT1, 1 case (1.8%) of bcl-6 gene-related chromosome translocation and 3 cases (5.3%) of IgH-unknown translocation partner. \"    ///    The MALT lymphoma-associated chromosome translocations t(11;18)(q21;q21)/API2-MALT1 and t(14;18) (q32;q21)/IgH-MALT1 are demonstrated in ocular MALT lymphomas of southern Chinese patients. '), ('334', 'ETV6_ARNT', 't(1;12)(q21;p13) / ', 'ETV6', 'ARNT', '20804916', '141', 'T ALL;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', '', 'Reverse transcriptase-polymerase chain reaction analysis disclosed the existence of a ETV6-ARNT fusion gene.     ///    Leukemia with t(1;12)(q21;p13) was previously described in a 5-year-old boy with acute myeloblastic leukemia (AML-M2) who exhibited a novel ETV6-aryl hydrocarbon receptor nuclear translocator (ARNT) fusion protein.     ///    ETV6-ARNT fusion in a patient with childhood T lymphoblastic leukemia..     ///    \"To our knowledge, the current report is novel in its report of the ETV6-ARNT fusion in childhood T-ALL. \"    ///    The ETV6-ARNT fusion is associated not only with AML but also with T-ALL.. '), ('335', 'MALT1_API2', 't(14;18) / t(11;14)  / t(11;18)  / t(14;18)  / ', 'MALT1', 'API2', '20079011', '141', 'small cell lymphoma', 'FISH ', '', '', '', '', '', '', '', 'A total of 74 fresh tissue samples clinically suspicious of lymphoma were investigated by FISH using three probes including IgH/bcl-2, IgH/CCND1 and API2/MALT1, corresponding the translocation t(14;18), t(11;14) and t(11;18) respectively. '), ('336', 'TEL_RUNX1', 't(12;21)(p13;q22) / t(12;21)  / ', 'TEL', 'RUNX1', '27065576', '141', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'We analyzed the t(12;21) translocation and other related abnormalities using the fluorescent in situ hybridization (FISH) technique with the ETV6(TEL)/RUNX1(AML1) ES dual color translocation probe.     ///    \"The frequency of FISH abnormalities in pediatric ALL cases were as follows: 8.5?% for t(12;21)(p13;q22) ETV6/RUNX1 fusion, 6.0?% for RUNX1 amplification, 3.0?% for tetrasomy/trisomy 21, 1.8?% for ETV6 deletion, 1.21?% for ETV6 deletion with RUNX1 amplification, 1.21?% for ETV6 amplification with RUNX1 amplification, 0.6?% for polyploidy, 0.6?% for RUNX1 deletion, and 0.6?% for diminished ETV6 signal. \"    ///    Evaluation of ETV6/RUNX1 Fusion and Additional Abnormalities Involving ETV6 and/or RUNX1 Genes Using FISH Technique in Patients with Childhood Acute Lymphoblastic Leukemia.. '), ('337', 'BCL6_FOXP1', 't(11;18)(q21;q21) / t(1;14)(p22;q32) / t(14;18) (q32;q21) / ', 'BCL6', 'FOXP1', '21055028', '141', 'MALT lymphoma;B cell lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', '', '', '', 'Fifty seven paraffin-embedded ocular MALT lymphoma specimens from patients in southern China were studied by interphase fluorescence-in-situ hybridization (FISH) for genetic aberrations including t(11;18)(q21;q21)/API2-MALT1, t(1;14)(p22;q32)/IgH-bcl-10, t(14;18) (q32;q21)/IgH-MALT1 and bcl-6/FOXP1 gene translocations. '), ('338', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '15943185', '141', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', ' We describe an unusual case of acute promyelocytic leukemia with +der(17)t(15;17) as the additional cytogenetic abnormality and with t(15;17) defined by fluorescence in situ hybridization (FISH) using a PML/RARA dual color, dual fusion translocation probe.     ///    \"By performing a step-by-step, complementary approach to evaluate unusual chromosomal abnormalities, we detected RARA/PML fusion on a marker chromosome similar to chromosome 17.. \"'), ('339', 'EWS_ERG', 't(21;22)(q22;q12) / ', 'EWS', 'ERG', '9071576', '140', 'ewing sarcoma;leukemia;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Although 10% of Ewing-family tumors express the EWS-ERG fusion transcript, there have been no reports on tumors with t(21;22)(q22;q12) identified by banding cytogenetics.     ///    Reverse transcriptase-polymerase chain reaction (RT-PCR) analysis performed on the tumor and direct sequencing of the products identified the EWS-ERG fusion transcript.     ///    EWS-ERG fusion transcript produced by chromosomal insertion in a Ewing sarcoma.. '), ('340', 'TEL_AML1', 't(12;21)  / t(12;21) / ', 'TEL', 'AML1', '8704231', '140', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'While only one of the 6 cell lines with the t(12;21) lost the der(12)t(12;21)-encoded AML1-TEL fusion transcript, 4 cell lines lacked expression of the nontranslocated allele of TEL and 5 cell lines lacked expression of CDKN2.     ///    \"Six cell lines expressed the TEL-AML1 chimeric transcript by RT-PCR and the t(12;21) was confirmed by FISH analysis with probes for TEL, AML1, and chromosome 12. \"    ///    These data show the coexistence of multiple genetic defects in childhood B-lineage ALL Cell lines with t(12;21) will facilitate the study of TEL-AML1 and AML1-TEL fusion proteins as well as TEL and CDKN2 gene inactivation in leukemia transformation and progression..     ///    \"Because this translocation is difficult to detect using standard cytogenetic techniques, 27 previously karyotyped B-lineage acute lymphoblastic leukemia (ALL) cell lines were evaluated for the presence of the TEL-AML1 fusion using the reverse transcriptase-polymerase chain reaction (RT-PCR), fluorescence in situ hybridization (FISH), and cDNA sequencing. \"    ///    TEL-AML1 translocations with TEL and CDKN2 inactivation in acute lymphoblastic leukemia cell lines..     ///    \"Moreover, in 2 patients (1 with the TEL-AML1 transcript and 1 without), TEL expression was lost with disease progression. \"'), ('341', 'FUS_CREB3L2', 't(7;16)(q32-34;p11) / t(7;16) / ', 'FUS', 'CREB3L2', '20471519', '140', 'sarcoma\r\r', 'FISH;PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Chromosome banding analysis revealed a supernumerary ring chromosome, and further studies with fluorescence in situ hybridization and reverse transcriptase-polymerase chain reaction (RT-PCR) showed that the ring contained material from chromosomes 7 and 16, that the FUS gene was present in two rearranged copies, and that it expressed the FUS/CREB3L2 fusion gene.     ///    \"However, supernumerary ring chromosomes have been identified in a subset of FUS/CREB3L2-positive LGFMS, but it has not yet been formally demonstrated that such ring chromosomes harbor the FUS/CREB3L2 fusion gene. \"'), ('342', 'BCR_ABL1', '', 'BCR', 'ABL1', '26045902', '140', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Karyotyping was used to detect Philadelphia chromosome (Ph), and fluorescence in situ hybridization (FISH) and reverse transcription-polymerase chain reaction (RT-PCR) were used to detect BCR-ABL1 fusion gene.     ///    \"Overall, 26/43 (60.5%) B-ALL patients were positive for BCR-ABL1 fusion gene expression, and all Ph positive cases (17/43. \"    ///    \"CD66c was expressed at significantly higher levels in BCR-ABL1 positive than negative patients (24/26, 92.3% vs. \"    ///    BCR-ABL1 and CD66c exhibit high concordance in minimal residual disease detection of adult B-acute lymphoblastic leukemia..     ///    39.5%) expressed BCR-ABL1 and CD66c.     ///    \"When BCR-ABL1 was set as the gold standard for the presence or absence of MRD after treatment, both CD66c alone and the MRD panel including CD66c demonstrated high diagnostic performance for the detection of MRD, with values of area under the receptor operation curve (ROC) of 0.881 vs. \"    ///    Patients with both CD66c expression and BCR-ABL1 were further assessed for MRD during treatment. '), ('343', 'DEK_CAN', 't(4;8) / del(7q) / t(8;12) / t(5;17) / t(12;20) / t(14;19) / ', 'DEK', 'CAN', '14506699', '139', 'acute myeloid leukemia;erythroleukemia', 'FISH ', '', '', '', '', '', '', '', 'Notably, we have shown that the KG-1 cells harbor a partial hexasomy of the long arm of chromosome 8, which may explain in part the previously reported significantly higher rate of formation of the AML1-ETO fusion gene in KG-1 cells subjected to high-dose gamma irradiation compared with the rates of formation of the BCR-ABL or the DEK-CAN fusion gene. '), ('344', 'MYB_NFIB', '', 'MYB', 'NFIB', '20702610', '139', 'adenoid cystic carcinoma\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', '', 'KB', 'Seq', 'Comprehensive analysis of the MYB-NFIB gene fusion in salivary adenoid cystic carcinoma: Incidence, variability, and clinicopathologic significance.    ///    \"Comprehensive analysis of the MYB-NFIB gene fusion in salivary adenoid cystic carcinoma: Incidence, variability, and clinicopathologic significance.. \"    ///    \"MYB-NFIB fusions were identified by reverse transcriptase-PCR (RT-PCR) and sequencing of the RT-PCR products, and confirmed by fluorescence in situ hybridization. \"    ///    \"The objectives of this study were to determine the incidence of the MYB-NFIB fusion in salivary adenoid cystic carcinoma (ACC), to establish the clinicopathologic significance of the fusion, and to analyze the expression of MYB in ACCs in the context of the MYB-NFIB fusion.\"    ///    \" The objectives of this study were to determine the incidence of the MYB-NFIB fusion in salivary adenoid cystic carcinoma (ACC), to establish the clinicopathologic significance of the fusion, and to analyze the expression of MYB in ACCs in the context of the MYB-NFIB fusion. \"    ///    We conclude that the MYB-NFIB fusion characterizes a subset of ACCs and contributes to MYB overexpression.     ///    \"The MYB-NFIB fusion was detected in 28% primary and 35% metastatic ACCs, but not in any of the non-ACC salivary carcinomas analyzed. \"    ///    The presence of the MYB-NFIB fusion was significantly associated (P = 0.03) with patients older than 50 years of age.     ///    Additional mechanisms may be involved in MYB overexpression in ACCs lacking the MYB-NFIB fusion.     ///    \"Notably, MYB was overexpressed in the vast majority of the ACCs, although MYB expression was significantly higher in tumors carrying the MYB-NFIB fusion. \"'), ('345', 'ETO_AML1', 't(4;8) / del(7q) / t(8;12) / t(5;17) / t(12;20) / t(14;19) / ', 'ETO', 'AML1', '14506699', '139', 'acute myeloid leukemia;erythroleukemia', 'FISH ', '', '', '', '', '', '', '', 'Notably, we have shown that the KG-1 cells harbor a partial hexasomy of the long arm of chromosome 8, which may explain in part the previously reported significantly higher rate of formation of the AML1-ETO fusion gene in KG-1 cells subjected to high-dose gamma irradiation compared with the rates of formation of the BCR-ABL or the DEK-CAN fusion gene. '), ('346', 'BCR_ABL1', 't(9;14)(q34;q32) / ', 'BCR', 'ABL1', '20073070', '139', 'T ALL\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'These are the NUP214-ABL1 fusion gene, on amplified episomes, the unique case of EML1-ABL1 fusion due to a cryptic t(9;14)(q34;q32) and the seldom reported BCR-ABL1 and ETV6-ABL1 chimeric genes. '), ('347', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '19933109', '139', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'Subsequent exposure of the cells to gamma irradiation, which causes DNA double-strand breaks, facilitates the formation of the TMPRSS2-ERG gene fusion. '), ('348', 'PAX7_FOXO1', '', 'PAX7', 'FOXO1', '21220470', '139', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH;PCR ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', ' This study determined the molecular characteristics and clinical significance of amplification of the 13q31 chromosomal region in alveolar rhabdomyosarcoma (ARMS), an aggressive pediatric cancer with frequent PAX3-FOXO1 and PAX7-FOXO1 gene fusions. '), ('349', 'PAX3_FOXO1', '', 'PAX3', 'FOXO1', '21220470', '139', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH;PCR ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', ' This study determined the molecular characteristics and clinical significance of amplification of the 13q31 chromosomal region in alveolar rhabdomyosarcoma (ARMS), an aggressive pediatric cancer with frequent PAX3-FOXO1 and PAX7-FOXO1 gene fusions. '), ('350', 'EML1_ABL1', 't(9;14)(q34;q32) / ', 'EML1', 'ABL1', '20073070', '139', 'T ALL\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'These are the NUP214-ABL1 fusion gene, on amplified episomes, the unique case of EML1-ABL1 fusion due to a cryptic t(9;14)(q34;q32) and the seldom reported BCR-ABL1 and ETV6-ABL1 chimeric genes. '), ('351', 'ETV6_ABL1', 't(9;14)(q34;q32) / ', 'ETV6', 'ABL1', '20073070', '139', 'T ALL\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'These are the NUP214-ABL1 fusion gene, on amplified episomes, the unique case of EML1-ABL1 fusion due to a cryptic t(9;14)(q34;q32) and the seldom reported BCR-ABL1 and ETV6-ABL1 chimeric genes. '), ('352', 'NPM_ALK', 'inv(2)(p23q35) / t(2;5)(p23;q35) / t(2;5) / ', 'NPM', 'ALK', '9763551', '138', 'non Hodgkin lymphoma;anaplastic large cell lymphoma;lymphoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'Moreover, a striking association of the inv(2)(p23q35) with a secondary chromosomal change, viz, ider(2)(q10)inv(2)(p23q35), carrying two additional copies of the putative ALK-related fusion gene, was found in all three patients, suggesting that, in contrast to the standard t(2;5)/NPM-ALK fusion, multiple copies of the putative 2q35-ALK chimeric gene may be required for efficient tumor development.     ///    \"In contrast to ALCL cases with the classical t(2;5)(p23;q35) that usually show both cytoplasmic and nuclear or predominantly nuclear alone localization of the NPM-ALK chimeric product, in all three cases with an inv(2)(p23q35) the ALK protein accumulated in the cytoplasm only, supporting the previous assumption that the oncogenic potential of ALK may not be dependent on its nuclear localization. \"'), ('353', 'NUT_BRD4', '', 'NUT', 'BRD4', '20034986', '138', '', 'FISH ', 'Kinase', '', '', '', '', 'KB', '', 'BRD4-NUT gene fusion was demonstrated by fluorescence in situ hybridization, confirming the diagnosis of NMC. '), ('354', 'EML4_ALK', '', 'EML4', 'ALK', '20179225', '138', 'anaplastic large cell lymphoma;lung cancer;adenocarcinoma;lymphoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Approximately 5% of lung adenocarcinomas harbor an EML4-ALK gene fusion and define a unique tumor group that may be responsive to targeted therapy. '), ('355', 'RUNX1_PRDM16', 't(1;21)(p36;q22) / t(1;21) / ', 'RUNX1', 'PRDM16', '16015645', '137', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In two of them, the PRDM16 reading frame is maintained in the fusion with RUNX1, suggesting that the RUNX1-PRDM16 gene fusion results in the production of a protein that is highly homologous to the RUNX1-MDS1/EVI1 chimeric protein.     ///    Novel RUNX1-PRDM16 fusion transcripts in a patient with acute myeloid leukemia showing t(1;21)(p36;q22)..     ///    Characterization of the RUNX1-PRDM16 fusion protein and comparison with the RUNX1-MDS1/EVI1 protein will facilitate the understanding of the mechanisms underlying RUNX1-associated leukemia.. '), ('356', 'LPP_HMGIC', 't(3;12)(q27;q14-q15) / ', 'LPP', 'HMGIC', '9598796', '137', '', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', '', 'By RT-PCR the existence of a HMGIC/LPP fusion gene was confirmed.     ///    The t(3;12)(q27;q14-q15) with underlying HMGIC-LPP fusion is not determining an adipocytic phenotype.. '), ('357', 'FLI1_EWSR1', 't(11;22)(q24;q12) / ', 'FLI1', 'EWSR1', '20513536', '137', 'ewing sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', 'Seq', 'Reverse-transcriptase polymerase chain reaction (RT-PCR) analysis, however, identified EWSR1-FLI1 fusion transcripts in both tumors, and the gene fusions were corroborated by FISH analysis with \"in house\" probes and confirmed by sequencing RT-PCR products.     ///    Cryptic EWSR1-FLI1 fusions in Ewing sarcoma: potential pitfalls in the diagnostic use of fluorescence in situ hybridization probes..     ///    \"The occurrence of cryptic EWSR1-FLI1 fusions mandates that RT-PCR should be performed, particularly in those cases in which the genetic findings are not in agreement with the histologic picture.. \"'), ('358', 'ATIC_ALK', 't(2;5)(p23;q35) / inv(2)(p23q35) / t(2;17)(p23;q25) / ', 'ATIC', 'ALK', '11395396', '137', 'anaplastic large cell lymphoma;lymphoma\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'The NPM-ALK and the ATIC-ALK fusion genes can be detected in non-neoplastic cells..     ///    \"The aims of the present study were to investigate the presence of NPM-ALK and ATIC-ALK fusion genes in ALCL, using a real-time 5\' exonuclease-based reverse-transcription polymerase chain reaction (RT-PCR). \"    ///    \"The aims of the present study were to investigate the presence of NPM-ALK and ATIC-ALK fusion genes in ALCL, using a real-time 5\' exonuclease-based reverse-transcription polymerase chain reaction (RT-PCR).\"    ///    \"Other rearrangements involving the ALK gene have recently been shown to be associated with ALCL, among which the ATIC-ALK rearrangement resulting from the inv(2)(p23q35) translocation is probably the most recurrent. \"    ///    \"Our findings demonstrate that NPM-ALK and ATIC-ALK fusion transcripts may be detected in conditions other than ALK-positive ALCL including reactive lymphoid tissues, although at low levels, suggesting the presence of the transcripts in normal (bystander) cells. \"    ///    \"Similarly, out of the three strongly positive ATIC-ALK cases, one case was positive for the NPM-ALK fusion, at low levels. \"    ///    \"Finally, the NPM-ALK and the ATIC-ALK fusions were detected, at equally low levels, respectively in 13 and 5 ALK-negative ALCL cases, in 11 and 5 Hodgkin\'s disease cases and in 20 and 1 non-neoplastic lymphoid tissues. \"    ///    RT-PCR detected the NPM-ALK and ATIC-ALK fusions at high levels in 8 and 3 of a total of 13 ALK-positive ALCL cases.     ///    \"In addition, of the eight ALK-positive ALCL cases that were strongly positive for the NPM-ALK fusion, three cases also showed the presence of the ATIC-ALK fusion, although at much lower levels. \"'), ('359', 'NPM_ALK', 't(2;5)(p23;q35) / inv(2)(p23q35) / t(2;17)(p23;q25) / ', 'NPM', 'ALK', '11395396', '137', 'anaplastic large cell lymphoma;lymphoma\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', '', '', 'The aims of the present study were to investigate the presence of NPM-ALK and ATIC-ALK fusion genes in ALCL, using a real-time 5\' exonuclease-based reverse-transcription polymerase chain reaction (RT-PCR).     ///    The NPM-ALK and the ATIC-ALK fusion genes can be detected in non-neoplastic cells..     ///    \"Our findings demonstrate that NPM-ALK and ATIC-ALK fusion transcripts may be detected in conditions other than ALK-positive ALCL including reactive lymphoid tissues, although at low levels, suggesting the presence of the transcripts in normal (bystander) cells. \"    ///    RT-PCR detected the NPM-ALK and ATIC-ALK fusions at high levels in 8 and 3 of a total of 13 ALK-positive ALCL cases.     ///    \"Similarly, out of the three strongly positive ATIC-ALK cases, one case was positive for the NPM-ALK fusion, at low levels. \"    ///    \"In addition, of the eight ALK-positive ALCL cases that were strongly positive for the NPM-ALK fusion, three cases also showed the presence of the ATIC-ALK fusion, although at much lower levels. \"    ///    \"Finally, the NPM-ALK and the ATIC-ALK fusions were detected, at equally low levels, respectively in 13 and 5 ALK-negative ALCL cases, in 11 and 5 Hodgkin\'s disease cases and in 20 and 1 non-neoplastic lymphoid tissues. \"'), ('360', 'TFE3_PSF', '', 'TFE3', 'PSF', '19606011', '137', 'neuroblastoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Molecular cloning using 5\' rapid amplification of complementary DNA ends and subsequent reverse transcription-polymerase chain reaction revealed an SFPQ/PSF-TFE3 gene fusion.     ///     We report a case of perivascular epithelioid cell tumor (PEComa) with an SFPQ/PSF-TFE3 gene fusion in a 14-year-old girl treated for adrenal neuroblastoma for 4 years.     ///    \"To the best of our knowledge, this is the second reported case of metachronous PEComa subsequent to a primary tumor, and the first report confirming an SFPQ/PSF-TFE3 gene fusion in PEComa.. \"    ///    Perivascular epithelioid cell tumor with SFPQ/PSF-TFE3 gene fusion in a patient with advanced neuroblastoma..     ///    \"To the best of our knowledge, this is the second reported case of metachronous PEComa subsequent to a primary tumor, and the first report confirming an SFPQ/PSF-TFE3 gene fusion in PEComa..\"'), ('361', 'FUS_ERG', 't(2;16)  / t(16;21)(p11;q24) / t(2;16)(q35;p11) / ', 'FUS', 'ERG', '17620387', '137', 'ewing sarcoma;sarcoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'In rare cases, FUS can substitute for EWS, with translocation t(16;21)(p11;q24) producing a FUS-ERG fusion with no EWS rearrangement. '), ('362', 'IGH_CCND1', 't(11;14)(q13;q32) / t(11;14)  / ', 'IGH', 'CCND1', '14608537', '137', 'chronic lymphocytic leukemia;leukemia;mantle cell lymphoma;lymphoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Study of peripheral blood samples from 2002 revealed a CD5-variable B-cell monoclonal proliferation with a t(11;14)(q13;q32) plus other karyotypic abnormalities, positive fluorescence in situ hybridization studies for the CCND1/IgH translocation, and clonal Ig gene rearrangement with mutated Ig genes (95.7% homology to VH 4-31). '), ('363', 'MLL_AF9', 't(9;11)(p22;q23) / t(9;11)  / t(9;11) / ', 'MLL', 'AF9', '16503549', '137', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'In the second step, 24 cases with MLL rearrangement were studied using MLL and AF9 probes: 17/18 cases with t(9;11) showed MLL/AF9 fusion. '), ('364', 'MLLT11_MLL', 't(1;11;17) / ', 'MLLT11', 'MLL', '22682626', '137', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', 'KB', '', 'Although the MLL-MLLT11 fusion gene has been described in the literature, the reciprocal MYO18A fusion partner is a novel candidate gene in the growing list of reciprocal MLL fusions..     ///    \"The two reciprocal MLL fusion sites were cloned by long-distance inverse polymerase chain reaction, which led to the identification of MLL-MLLT11 and the reciprocal MYO18A-MLL fusion alleles. \"'), ('365', 'MYH11_CBFB', 'inv(16) / inv(16)  / ', 'MYH11', 'CBFB', '10959099', '137', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', ' We present a unique case of acute myeloid leukemia M4Eo (AML-M4Eo) with a CBFB/MYH11 fusion transcript and a trisomy 22, but in whom cytogenetic analyses did not disclose an inv(16).     ///    \"The most likely explanation for the formation of the relevant CBFB/MYH11 fusion is an insertion of parts of the MYH11 into the CBFB gene, although it is also possible that it was formed by a double inversion.. \"    ///    CBFB/MYH11 fusion in a patient with AML-M4Eo and cytogenetically normal chromosomes 16.. '), ('366', 'SET_NUP214', 'del(9) / ', 'SET', 'NUP214', '19166587', '137', 'acute myeloid leukemia;T ALL;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', '', 'Of 141 human leukemia/lymphoma cell lines tested, only the T-ALL cell line LOUCY and the AML cell line MEGAL expressed the SET(TAF-Ibeta)-NUP214 fusion gene transcript.     ///    Cell lines LOUCY and MEGAL express the recently described SET-NUP214 fusion gene.     ///    \" SET-NUP214 fusion resulting from a recurrent cryptic deletion, del(9)(q34.11q34.13) has recently been described in T-cell acute lymphoblastic leukemia (T-ALL) and in one case of acute myeloid leukemia (AML). \"    ///    We screened a panel of ALL and AML cell lines for SET-NUP214 expression to find model systems that might help to elucidate the cellular function of this fusion gene.     ///    The cell lines are promising model systems for SET-NUP214 studies and should facilitate investigating cellular functions of the the SET-NUP214 protein..     ///    SET-NUP214 fusion in acute myeloid leukemia- and T-cell acute lymphoblastic leukemia-derived cell lines..     ///    Both cell lines expressed the 140 kDa SET-NUP214 fusion protein. '), ('367', 'RUNX1_ETV6', 't(12;21)(p13;q22) / ', 'RUNX1', 'ETV6', '19594616', '137', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' TEL/AML1 (ETV6/RUNX1) fusion resulting from the translocation t(12;21)(p13;q22) constitutes the most common chimeric fusion gene in initial childhood B-cell precursor (BCP) acute lymphoblastic leukemia (ALL) (19-27%) and has been associated with good prognosis.     ///    Interphase FISH on TEL/AML1 positive acute lymphoblastic leukemia relapses--analysis of clinical relevance of additional TEL and AML1 copy number changes..     ///    \"In children with TEL/AML1 positive ALL relapse, additional (a) TEL loss, (b) combined AML1 and der(21) gain, (c) combined TEL loss and AML1 gain as well as (d) the occurrence of a subpopulation with the signal pattern 1T/3A/1TA appear to be related to higher peripheral blast counts (PBCs) at relapse diagnosis (a and d) or a tendency towards the occurrence of a subsequent relapse (b and c) (P-values <0.05). \"    ///    \"Three secondary aberrations in TEL/AML1 positive ALL have been suspected to negatively influence outcome: deletion of the second TEL allele (T), gain of the second AML1 allele (A) and duplication of the derivative chromosome 21 (der(21), TA). \"    ///    \"In this study, bone marrow samples from 38 children with relapsed TEL/AML1 RT-PCR positive and negative BCP-ALL were analyzed for these mutations by interphase fluorescence in situ hybridization and results were compared with published data. \"    ///    \"Our data together with published results on TEL/AML1 positive ALL suggest that frequencies of additional TEL and AML1 mutations are, with the exception of loss of untranslocated TEL, higher in first relapses than in initial disease. \"'), ('368', 'NPM_ALK', '', 'NPM', 'ALK', '12505251', '136', 'non Hodgkin Lymphoma', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'The NPM/ALK fusion gene was confirmed by fluorescence in situ hybridization (FISH) analysis in more than 80% of interphase nuclei and metaphase spreads.     ///    The chromosomal 5q35 breakpoint (bp) and the expression of the NPM/ALK fusion gene are the most remarkable molecular cytogenetic features of these malignancies.     ///    \"To identify new locations of ALCL-related oncogenes, comparative genomic hybridization (CGH) was applied to three ALCL cell lines (SU-DHL-1, Karpas 299, and DEL) exhibiting the 5q35 bp and expressing the NPM/ALK transcript. \"'), ('369', 'ETO_AML1', 'inv (16) / ', 'ETO', 'AML1', '14559688', '136', '', 'FISH ', '', '', '', '', '', '', '', 'With I-FISH, however, 80% (12/15) of the cases were found with genetic abnormality involving CBF, including all the 8 M2 cases with AML1/ETO fusion gene, both of the M4EO cases with CBFbeta/MYH11 and 2 of the 5 B-ALL cases with ETV6/AML1.     ///    \"On the basis of the false-positive rate acquired from normal subjects, the normal cutoff values of the 3 probes including AML1/ETO translocation probe, MYH11 breakpoint region probe and ETV6/AML1 translocation probe were 4.13%, 1.95% and 2.12% respectively. \"'), ('370', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '17385188', '136', 'prostate cancer;breast cancer;colon cancer\r\r', 'FISH', '', '', '', '', '', 'KB', 'Seq', 'Morphological features of TMPRSS2-ERG gene fusion prostate cancer..     ///    The biological effect of TMPRSS2-ERG overexpression may drive pathways that favour these common morphological features that pathologists observe daily. '), ('371', 'ETV6_CBFA2', 't(12;21)(p13;q22) / t(12;21)  / t(12;21) / 16p13.1 / ', 'ETV6', 'CBFA2', '11550288', '136', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'However, in six patients with the ETV6-CBFA2 fusion on chromosome 21, the reciprocal CBFA2 signal was observed not on 12p13 but on 4q21, 4q27, 8q24, 11q24, 14q11.2, or 16p13.1.     ///    \" In childhood B-lineage acute lymphoblastic leukemia (ALL), the most common genetic change, the ETV6-CBFA2 (TEL-AML1) fusion resulting from the cryptic t(12;21)(p13;q22) is associated with a favorable outcome. \"    ///    \"Novel cryptic, complex rearrangements involving ETV6-CBFA2 (TEL-AML1) genes identified by fluorescence in situ hybridization in pediatric patients with acute lymphoblastic leukemia.. \"    ///    \"In another patient, the ETV6-CBFA2 fusion was observed on 4q21 rather than on 21q. \"'), ('372', 'BCR_ABL1', 'del(22q)  / ', 'BCR', 'ABL1', '9666799', '136', 'leukemia\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'FISH analysis of the del(22q) carrying cases with BCR- and ABL-specific DNA probes additionally exhibited a BCR-ABL fusion in 5.2 to 9% of cells in unstimulated blood. '), ('373', 'MYH11_CBFB', 'inv(16)  / t(16;16)  / t(16;16) / ', 'MYH11', 'CBFB', '9204976', '136', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'The presence of a 16 p deletion in a case of inv(16) associated with CBFB-MYH11 transcript type E indicates that deletions are not limited to CBFB-MYH11 transcript type A rearrangements. '), ('374', 'PAX3_FKHR', 't(2;13) / t(1;13) / t(2;13)  / ', 'PAX3', 'FKHR', '20470941', '134', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Correspondingly, using FISH, the t(2;13)/PAX3-FKHR was found positive in 19 cases (63.5%), one case (3%) revealed the t(1;13)/PAX7/FKHR and ten cases (33.5%) were fusion-negative by this method.     ///    \"From 25 samples (83%) with optimal RNA quality, RT-PCR revealed 15 cases (50%) with the t(2;13)/PAX3-FKHR. \"'), ('375', 'RUNX1T1_RUNX1', 't(8;21)(q22;q22) / del(5q)  / del(5) / ', 'RUNX1T1', 'RUNX1', '26763368', '134', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Furthermore, FISH on interphase nuclei revealed that the RUNX1/RUNX1T1 fusion signal and deletion of CSF1R signaling were found in 66.0% and 58.0% of interphase cells, respectively, suggesting that del(5)(q?) occurred in cells with RUNX1/RUNX1T1.     ///    \"Fluorescence in situ hybridization (FISH) on metaphase spreads detected a RUNX1/RUNX1T1 fusion signal on the der(8)t(8;21)(q22;q22), and confirmed deletion of CSF1R signaling at 5q33-q34 on the del(5)(q?). \"'), ('376', 'ETO_AML1', 't(8;21)(q22;q22) / t(8;21)  / ', 'ETO', 'AML1', '23168243', '134', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', 'FISH', '', '', '', '', '', '', '', 'In 2010, cytogenetic analysis of the bone marrow again confirmed this finding and FISH for AML1/ETO t(8;21) remained negative. '), ('377', 'RARA_PML', 't(15;17)  / t(15;17)(q22;q21) / t(15;17) / ', 'RARA', 'PML', '26469919', '134', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'He was diagnosed as low-risk APL according to the 2012 NCCN guideline on APL, with the expression of PML-RARA (bcr3 subtype) and the karyotype of 46,XY, der(15)t(15;17)(q22;q21),ider(17)(q10)t(15;17), which was further verified by FISH. '), ('378', 'RARA_PML', 't(15;17)  / t(15;17) / ', 'RARA', 'PML', '8111743', '134', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', ' Fluorescence in situ hybridization (FISH) provides a sensitive and effective approach in identifying the RAR-alpha/PML fusion event in acute promyelocytic leukemia (APL) with the t(15;17).     ///    In the present study we describe the use of this assay for the identification of the RAR-alpha/PML fusion in bone marrow (BM) cells from three APL patients with complex t(15;17) translocations.. '), ('379', 'TEL_AML1', 't(12;21)  / t(8;12)(q11;p13) / t(12;21) / ', 'TEL', 'AML1', '9738986', '134', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'The FISH method clearly demonstrated that all patients with the TEL/AML1 fusion had subpopulations of leukemic cells with deletion of the normal TEL allele, which is significant for understanding the progression of leukemia with t(12;21)..     ///    \"Of the seven patients with the TEL/AML1 fusion, five exhibited normal karyotype, one was t(8;12)(q11;p13), i(21q) and the remaining one exhibited a near-triploid karyotype in conventional G-banding. \"    ///    \"On the other hand, no TEL/AML1 fusion positive patients were found among 37 adult ALL. \"    ///    \"We detected seven TEL/AML1 fusion positive patients (9.5%), all of whom were diagnosed as B-lineage ALL, among 74 childhood ALL. \"'), ('380', 'POU1F1_NUP98', 't(3;11)(p11;p15) / ', 'POU1F1', 'NUP98', '23332017', '134', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH', '', '', '', '', 'Transcription_Factor', '', '', 'In addition, we have found that the patient harbored an FLT3-ITD mutation, which most likely collaborated with the NUP98-POU1F1 fusion gene in malignant transformation. '), ('381', 'MALT1_API2', 't(14;18)(q32;q21) / t(14;18) / t(11;18)(q21;q21) / ', 'MALT1', 'API2', '24236896', '134', 'MALT lymphoma', 'FISH', '', '', '', '', '', '', '', 'Fluorescence in-situ hybridization (FISH) assays for the detection of t(14;18)/IGH-MALT1 and t(11;18)(q21;q21)/API2-MALT1, along with immunostaining and histological evaluations, were performed on selected cases. '), ('382', 'IGH_BCL10', '', 'IGH', 'BCL10', '19080537', '133', 'MALT lymphoma;lymphoma\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', '', '', 'In the FISH results, 9 cases (39.1%, 9/23) showed API2-MALT1 fusion gene, 1 case with possible BCL10-IgH abnormality, but none showed chromosomal abnormalities related with MALT1 and IgH gene simultaneously.     ///    14)/BCL10-IgH and t (14. '), ('383', 'MALT1_API2', '', 'MALT1', 'API2', '19035248', '133', 'MALT lymphoma;lymphoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Under statistic of Fisher exact test, nuclear BCL10 expression and API2-MALT1 fusion gene were two independent factors (P > 0.05).     ///    \"BCL10 was detected by immunohistochemical studies, and API2-MALT1 fusion gene, BCL10, MALT1 and IgH chromosomal abnormalities were detected by fluorescent in situ hybridization (FISH). \"    ///    \"FISH results showed that no chromosomal abnormalities related with BCL10 and IgH genes, except 2 cases with API2-MALT1 fusion gene. \"    ///     To detect the BCL10 expression and several types of chromosomal translocations [including t (11;18)/API2-MALT1. '), ('384', 'MALT1_API2', '', 'MALT1', 'API2', '19080537', '133', 'MALT lymphoma;lymphoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'In the FISH results, 9 cases (39.1%, 9/23) showed API2-MALT1 fusion gene, 1 case with possible BCL10-IgH abnormality, but none showed chromosomal abnormalities related with MALT1 and IgH gene simultaneously.     ///    \"BCL10 was detected by immunohistochemistry of EnVision method, and API2-MALT1, BCL10, MALT1, IgH chromosomal abnormalities were detected by fluorescent in situ hybridization (FISH) technique. \"    ///    18)/API2-MALT1 and BCL10 aberrant nuclear expression in pulmonary mucosa-associated lymphoid tissue lymphomas]..     ///    \"18)/API2-MALT1 was the most common chromosomal abnormality in pulmonary MALT lymphomas, but t (1. \"    ///    18)/API2-MALT1. '), ('385', 'P12_P11', '2p11.2 / ', 'P12', 'P11', '14757858', '133', 'Charcot-Marie-Tooth disease\r\r', 'FISH ', '', '', '', '', '', '', '', 'Four genomic disorders map within the interval 17p11-p12: Charcot-Marie-Tooth disease type 1A, hereditary neuropathy with liability to pressure palsies, Smith-Magenis syndrome, and dup(17)(p11.2p11.2) syndrome. '), ('386', 'MYH11_CBFB', 'inv(16) / inv(16)  / t(16;16)  / ', 'MYH11', 'CBFB', '7833479', '133', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'The inversion results in two fusion genes: 5\'-CBFB/MYH11-3\' on 16p and 5\'-MYH11/CBFB-3\' on 16q.     ///    Reverse transcription-polymerase chain reaction (RT-PCR) using primers from the 5\' region of CBFB and the 3\' region of MYH11 (distal to the p-ibc) produced the 5\'-CBFB/MYH11-3\' chimeric transcript in inv(16)/del patients.     ///    \"These data confirm that the 5\'-CBFB/MYH11-3\' chimeric transcript, rather than the reciprocal 5\'-MYH11/CBFB-3\', is the critical product for chromosome 16-related leukemogenesis.. \"'), ('387', 'PDL1_JAK2', '9p24.1 / t(9;14) / p24.1;q32 / ', 'PDL1', 'JAK2', '26850007', '133', 'T cell lymphoma;leukemia;B cell lymphoma;lymphoma\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', '', '', 'The smallest amplified 9p24.1 region was restricted to the JAK2-PDL1/2-RANBP6 interval.     ///    \"Interestingly, the cryptic JAK2-PDL1 rearrangement was generated by a microdeletion spanning the 3\'JAK2-5\'PDL1 region. \"'), ('388', 'BCR_ABL1', '', 'BCR', 'ABL1', '12783977', '133', '', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The submicroscopic deletion of the ABL-BCR fusion gene on the derivative chromosome 9 in these cases was subsequently characterised by metaphase FISH on relocated G banded metaphases. '), ('389', 'SSX1_SS18L1', 'p11;q11 / ', 'SSX1', 'SS18L1', '12696068', '132', 'synovial sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', '', 'KB', '', 'A novel fusion gene, SS18L1/SSX1, in synovial sarcoma..     ///    \"A novel fusion gene, SS18L1/SSX1, in synovial sarcoma.\"    ///    Further RT-PCR analysis and sequencing of the amplified products revealed a novel SS18L1/SSX1 fusion transcript in which nucleotide 1216 (exon 10) of SS18L1 was fused in-frame with nucleotide 422 (exon 6) of SSX1. '), ('390', 'NR4A3_EWSR1', 't(12;16)(q13;p11) / t(7;16)(q34;p11) / t(9;22)(q31;q12) / ', 'NR4A3', 'EWSR1', '18162764', '132', 'chondrosarcoma;liposarcoma;sarcoma\r\r', 'FISH ', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', '', 'Distinct chromosomal translocations have been identified in several myxoid sarcomas, including t(12;16)(q13;p11) FUS-DDIT3 in myxoid liposarcoma, t(7;16)(q34;p11) FUS-CREB3L2 in low-grade fibromyxoid sarcoma, and t(9;22)(q31;q12) EWSR1-NR4A3 in extraskeletal myxoid chondrosarcoma. '), ('391', 'MSI2_HOXA9', 't(7;17)(p15;q23) / t(7;17)(q32-34;q23) / ', 'MSI2', 'HOXA9', '12649177', '132', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'In this study, we show that a novel gene in 17q23, Musashi-2 (MSI2), encoding a putative RNA-binding protein, is rearranged in both cases and that a MSI2/HOXA9 fusion gene is formed in the case with the 7p15 breakpoint.     ///    \"The identified in-frame MSI2/HOXA9 fusion transcript retains both of the RNA recognition motif domains of MSI2, which is fused to the homeobox domain of HOXA9, and is likely to play an important role in the disease progression of CML.. \"'), ('392', 'FUS_DDIT3', 't(12;16)(q13;p11) / t(7;16)(q34;p11) / t(9;22)(q31;q12) / ', 'FUS', 'DDIT3', '18162764', '132', 'chondrosarcoma;liposarcoma;sarcoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Distinct chromosomal translocations have been identified in several myxoid sarcomas, including t(12;16)(q13;p11) FUS-DDIT3 in myxoid liposarcoma, t(7;16)(q34;p11) FUS-CREB3L2 in low-grade fibromyxoid sarcoma, and t(9;22)(q31;q12) EWSR1-NR4A3 in extraskeletal myxoid chondrosarcoma. '), ('393', 'FUS_CREB3L2', 't(12;16)(q13;p11) / t(7;16)(q34;p11) / t(9;22)(q31;q12) / ', 'FUS', 'CREB3L2', '18162764', '132', 'chondrosarcoma;liposarcoma;sarcoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Distinct chromosomal translocations have been identified in several myxoid sarcomas, including t(12;16)(q13;p11) FUS-DDIT3 in myxoid liposarcoma, t(7;16)(q34;p11) FUS-CREB3L2 in low-grade fibromyxoid sarcoma, and t(9;22)(q31;q12) EWSR1-NR4A3 in extraskeletal myxoid chondrosarcoma. '), ('394', 'MLL_LASP1', 't(11;17)  / t(11;17) / ', 'MLL', 'LASP1', '16897742', '132', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', 'KB', '', 'At present, two genes are known in 11q23 and four in 17q12-25 that generate five distinct fusion genes: MLL-MLLT6/AF17, MLL-LASP1, MLL-ACACA or MLL-SEPT9/MSF, and ZBTB16/PLZF-RARA.     ///    \"We identified six different gene fusions that comprised seven cases with a MLL-MLLT6/AF17, three with a MLL-SEPT9/MSF, and one each with MLL-LASP1, MLL-ACACA, and ZBTB16/PLZF-RARA fusions. \"'), ('395', 'NPM_ALK', 't(2;5)(p23;q35) / ', 'NPM', 'ALK', '22726922', '132', 'anaplastic large cell lymphoma;lymphoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'ALK-positive ALCL is characterized by t(2;5)(p23;q35)/NPM-ALK or variant ALK-involved translocations, while little is known about the genetic changes in ALK-negative ALCL. '), ('396', 'NPM_ALK', 't(2;5)  / ', 'NPM', 'ALK', '9138611', '132', 'non Hodgkin lymphoma;lymphoma\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Molecular equivalents of chromosomal translocations generate either a qualitative change due to the expression of a chimaeric, relatively tumour specific, protein, such as the NPM-ALK associated with the t(2;5) in ALCL or a quantitative change in the extent, stage or site of expression of a full length protein, due to its juxtapositioning to and deregulation by an Ig or TCR gene.     ///    \"At diagnosis, immunological detection of the deregulated \'protooncogene\' may well provide the simplest, most appropriate screening technique for CCND1 and NPM-ALK induced ALK expression. \"'), ('397', 'TEL_AML1', 't(12;21)(p13;q22) / ', 'TEL', 'AML1', '9078285', '132', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'More specific to ALL, t(12;21)(p13;q22), resulting in a fusion TEL-AML1, gene has recently been shown to be the most frequent translocation in childhood B-cell lineage ALL (20-30% of cases). '), ('398', 'ETV6_AML1', 't(9;22)(q34;q11) / t(1;19)(q23;p13) / t(12;21)(p13;q22) / ', 'ETV6', 'AML1', '11640871', '132', '', 'FISH', '', '', '', '', '', '', '', 'and the probable good risk translocation t(12;21)(p13;q22), which results in the ETV6/AML1 fusion. '), ('399', 'PAX7_FOXO1', 't(2;13)(q35;q14) / t(1;13)(p36;q14) / t(8;13;9) / p11.2;q14;9 / 8p12p11.2 / ', 'PAX7', 'FOXO1', '21666686', '132', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'Approximately 80% of alveolar rhabdomyosarcoma carry two signature chromosomal translocations, t(2;13)(q35;q14) resulting in PAX3-FOXO1 fusion, and t(1;13)(p36;q14) resulting in PAX7-FOXO1 fusion. '), ('400', 'PAX3_FOXO1', 't(2;13)(q35;q14) / t(1;13)(p36;q14) / t(8;13;9) / p11.2;q14;9 / 8p12p11.2 / ', 'PAX3', 'FOXO1', '21666686', '132', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'Approximately 80% of alveolar rhabdomyosarcoma carry two signature chromosomal translocations, t(2;13)(q35;q14) resulting in PAX3-FOXO1 fusion, and t(1;13)(p36;q14) resulting in PAX7-FOXO1 fusion. '), ('401', 'MLLT6_MLL', 't(11;17)  / t(11;17) / ', 'MLLT6', 'MLL', '16897742', '132', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'At present, two genes are known in 11q23 and four in 17q12-25 that generate five distinct fusion genes: MLL-MLLT6/AF17, MLL-LASP1, MLL-ACACA or MLL-SEPT9/MSF, and ZBTB16/PLZF-RARA.     ///    \"We identified six different gene fusions that comprised seven cases with a MLL-MLLT6/AF17, three with a MLL-SEPT9/MSF, and one each with MLL-LASP1, MLL-ACACA, and ZBTB16/PLZF-RARA fusions. \"    ///    The heterogeneity of transcripts encountered in cases with MLL-MLLT6/AF17 and MLL-SEPT9/MSF fusions clearly demonstrates that thorough attention has to be paid to the appropriate selection of primers to cover all these hitherto unrecognized fusion variants..     ///    The MLL-MLLT6/AF17 transcripts were extremely heterogeneous and the detection of seven different in-frame transcript and splice variants enabled us to predict the protein domains relevant for leukemogenesis.     ///    \"The putative MLL-MLLT6 consensus chimeric protein consists of the AT-hook DNA-binding, the methyltransferase, and the CXXC zinc-finger domains of MLL and the highly conserved octapeptide and the leucine-zipper dimerization motifs of MLLT6. \"'), ('402', 'NPM_ALK', 't(2;5)(p23;q35) / ', 'NPM', 'ALK', '16954669', '132', 'anaplastic large cell lymphoma;non Hodgkin lymphoma;lymphoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'In the majority of cases, ALCL are of T-cell origin and contain the t(2;5)(p23;q35) leading to an NPM-ALK fusion or variant ALK translocations. ');
INSERT INTO `ChimerPub_dump` VALUES ('403', 'NTRK3_ETV6', 't(12;15) / ', 'NTRK3', 'ETV6', '18462362', '132', 'breast cancer;acinic cell carcinoma\r\r', 'FISH ', 'Kinase', '', '', '', '', 'KB', 'Seq', 'It has been demonstrated that SCs of the breast consistently harbour the t(12;15)ETV6-NTRK3 translocation. '), ('404', 'ETO_AML1', 't(8;21)  / t(8;21) (q22;q22) / ', 'ETO', 'AML1', '8822938', '132', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', '', ' The AML1/ETO fusion transcript is expressed in virtually all patients with t(8;21) (q22;q22) acute myeloid leukemia (AML).     ///    Persistence of the AML1/ETO fusion transcript in patients treated with allogeneic bone marrow transplantation for t(8;21) leukemia..     ///    Sufficient RNA was extracted from the most recent BM or BM and blood samples from nine patients to assay for presence or absence of the AML1/ETO fusion transcript by RT-PCR.     ///    \"These data suggest that allogeneic BMT, like conventional chemotherapy and autologous BMT, is not sufficient to eradicate cells expressing AML1/ETO, and that a positive RT-PCR for the fusion transcript post allogeneic BMT is compatible with continued CR.. \"    ///    The furthest time points analyzed for the AML1/ETO transcript in the 10 patients in CR following allogeneic BMT ranged from 7.5 to 83.0 months.     ///    \"However, AML1/ETO expression has not been analyzed in a series of patients following allogeneic BMT. \"'), ('405', 'FUS_CHOP', 't(12;16)(q13;p11) / ', 'FUS', 'CHOP', '20732964', '132', 'liposarcoma;sarcoma\r\r', 'FISH;PCR ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The pathologic response was associated with the presence of the FUS-CHOP fusion gene, indicating that the drug does not totally eradicate the disease.     ///    It is associated in more than 90% of cases with the chromosomal translocation t(12;16)(q13;p11) leading to the fusion FUS-CHOP gene that is responsible for the oncogenic transformation of preadipocytes. '), ('406', 'MLL_AF10', '', 'MLL', 'AF10', '24635731', '132', 'leukemia;lymphoma\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'The MLL-AF10 fusion gene was further detected in cytologically normal pretreated bone marrow. '), ('407', 'MALT1_API2', 't(11;18)(q21;q21) / t(11;18) / ', 'MALT1', 'API2', '15452377', '132', 'MALT lymphoma;B cell lymphoma;lymphoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Our findings suggest that the presence of the API2-MALT1 fusion transcript resulting from t(11;18)(q21;q21) does not adversely affect the response of gastric MALT lymphoma to chemotherapy with 2CdA.     ///     t(11;18)(q21;q21) resulting in the API2-MALT1 fusion transcript is an exclusive finding in extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma). '), ('408', 'MYB_GATA1', 'p11;q23 / ', 'MYB', 'GATA1', '21474671', '132', 'acute basophilic leukemia', 'FISH ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Our molecular investigations, based on fluorescence in situ hybridization and rapid amplification of cDNA ends, revealed that the translocation generated a MYB-GATA1 fusion gene. '), ('409', 'EAP_AML1', 't(3;21)  / t(3;21)(q26;q22) / t(8;21)  / t(3;21) / t(8;21) / ', 'EAP', 'AML1', '7533526', '132', 'leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'In the other t(3;21) patients we could not detect an AML1/EAP transcript or an AML1/EV11 transcript.     ///    \"An AML1/EAP fusion transcript, different from the one described in a therapy-related myelodysplasia, was detected in both CML-BC cases. \"'), ('410', 'MLL_ELL', 't(6;19;11) / p13.1;q23.3 / t(6;19;11)(p22;p13;q23) / t(6;11)(p22;q23) / t(1;12)(q11;p13) / 6p24.3 / ', 'MLL', 'ELL', '23735562', '131', 'acute myeloid leukemia;myeloid leukemia;leukemia;sarcoma\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'Karyotyping showed 47,XY,t(6;19;11)(p22;p13;q23),+der(6)t(6;11)(p22;q23)[17]/48,sl,+8[3]/48,sl,+8,der(12)t(1;12)(q11;p13)[3]/ 48,sdl,der(Y)t(Y;1)(q12;q11),+8[7] conferring MLL-ELL fusion. '), ('411', 'CALM_AF10', 't(10;11)(p13;q14-q21) / ', 'CALM', 'AF10', '16956826', '131', '', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Dual-color split signal fluorescence in situ hybridization assays for the detection of CALM/AF10 in t(10;11)(p13;q14-q21)-positive acute leukemia..     ///    \"This new FISH assay reliably discriminates between MLL/AF10 and CALM/AF10 genomic rearrangements, identifies variant and complex CALM/AF10 translocations and detects the CALM/AF10 rearrangement in extramedullary leukemic infiltrations.. \"    ///    \"As expected, FISH was less sensitive than RT-PCR for disease monitoring of CALM-AF10 positive cases. \"    ///    \"In 2/7 cases, FISH detected CALM/AF10 in extramedullary leukemic infiltrations in the mediastinum and breast. \"    ///    \"Among nine cases of acute leukemia with translocation breakpoints at 10p13 and 11q14-21, a CALM/AF10 rearrangement was found in seven and was confirmed by reverse transcriptase polymerase chain reaction (RT-PCR) in all. \"'), ('412', 'MALT1_API2', 't(11;18) (q21;q21) / t(14;18)(q32;q21) / t(14;18) / t(11;18)  / ', 'MALT1', 'API2', '22781798', '131', 'B cell lymphoma;B cell lymphoma;lymphoma\r\r', 'FISH', '', '', '', '', '', '', '', 'Additionally, interphase fluorescence in-situ hybridization (FISH) was carried out to detect the presence of t(11;18) (q21;q21)/API2-MALT1 and/or t(14;18)(q32;q21)/IGH-MALT1 in 9 cases. '), ('413', 'MLL_AFF1', 't(4;11)(q21;q23) / t(6;11)(q27;q23) / t(9;11)(p22;q23) / t(11;19) / t(4;11) / t(6;11) / t(9;11) / 19p13.1 / 19p13.3 / ', 'MLL', 'AFF1', '20539022', '131', 'leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'Five translocations account for approximately 80% of MLL rearrangements: t(4;11)(q21;q23), AFF1/MLL.     ///    \"The findings demonstrated abnormal D-FISH results for 24 of 25 AFF1/MLL, 19 of 20 MLLT4/MLL, all 20 MLLT3/MLL, all 18 MLL/ELL, and all 20 MLL/MLLT1 samples, confirming the efficacy of these D-FISH assays in detecting these common MLL/partner translocations. \"'), ('414', 'RUNX1_ETV6', 't(12;21)(p13;q22) / t(9;22)(q34;q11) / ', 'RUNX1', 'ETV6', '24816234', '131', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' Primary established genetic abnormalities in B-cell precursor acute lymphoblastic leukemia include high hyperdiploidy (51-65 chromosomes), the translocations t(12;21)(p13;q22)/ETV6-RUNX1 fusion and t(9;22)(q34;q11)/BCR-ABL1 fusion, MLL rearrangements and intrachromosomal amplification of chromosome 21. '), ('415', 'MKL2_C11orf95', 't(11;16)(q13;p13) / ', 'MKL2', 'C11orf95', '20607705', '131', 'chondrosarcoma;liposarcoma;leukemia;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'C11orf95-MKL2 is the resulting fusion oncogene of t(11;16)(q13;p13) in chondroid lipoma..     ///    The FISH and RT-PCR assays developed in this study can serve as diagnostic adjuncts for the identification of this novel C11orf95-MKL2 fusion oncogene in chondroid lipoma.. '), ('416', 'BCP_ABL1', 't(9;22)  / ', 'BCP', 'ABL1', '18225540', '131', '', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Cultured MSCs from 5 patients with CML and 3 patients with bi-phenotypic Ph+ leukaemia, all of them positive for BCP-ABL, were analysed with conventional cytogenetics, fluorescence in situ hybridisation (FISH) and polymerase chain reaction (PCR) for the presence of t(9;22) and BCR-ABL. '), ('417', 'MYC_IGH', 't(8;14) / ', 'MYC', 'IGH', '25125625', '131', 'chronic lymphocytic leukemia;leukemia;mantle cell lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Three cases showed additional signals for the MYC gene by fluorescence in situ hybridization (FISH), and two cases demonstrated t(8;14)MYC/IGH by karyotyping or FISH. '), ('418', 'BCR_ABL1', 't(12;21)(p13;q22) / t(9;22)(q34;q11) / ', 'BCR', 'ABL1', '24816234', '131', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Primary established genetic abnormalities in B-cell precursor acute lymphoblastic leukemia include high hyperdiploidy (51-65 chromosomes), the translocations t(12;21)(p13;q22)/ETV6-RUNX1 fusion and t(9;22)(q34;q11)/BCR-ABL1 fusion, MLL rearrangements and intrachromosomal amplification of chromosome 21. '), ('419', 'GFR_B2M', 'del(11q)  / del(17p)  / ', 'GFR', 'B2M', '19388937', '131', '', 'FISH ', '', '', '', '', '', '', '', 'Multivariate analysis identified a significantly shorter TFS in patients who were ZAP-70 + (P < 0.001), with increased GFR-B2M (P < 0.001), and del(11q) or del(17p) as detected by fluorescence in situ hybridization (FISH.     ///    \"When OS was evaluated by multivariate analysis, age 65 years or older (P < 0.001) and poor risk FISH abnormalities (P < 0.001) had a confirmed adverse prognostic impact, but the predictive value of GFR-B2M was lost in the validation analysis. \"    ///    \"In conclusion, GFR-B2M is a better predictor of TFS than unadjusted B2M in CLL patients.. \"    ///    \"In all survival models, B2M did not attain independent significance unless GFR-B2M was eliminated from the analysis. \"'), ('420', 'IGH_BCL2', 't(14;18)(q32;q21) / ', 'IGH', 'BCL2', '25171429', '131', 'B cell chronic lymphocytic leukemia;Borrelia infection', 'FISH', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Specific cutaneous involvement by B-CLL was confirmed by the detection of t(14;18)(q32;q21) (BCL2-IGH) using FISH in neoplastic B cells within the skin infiltrates. '), ('421', 'CBFA2T3_ACSF3', 't(14;16)(q32;q24) / t(14;16) / ', 'CBFA2T3', 'ACSF3', '22420028', '131', 'follicular lymphoma;B cell lymphoma;lymphoma\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'The CBFA2T3/ACSF3 locus is recurrently involved in IGH chromosomal  translocation t(14;16)(q32;q24) in pediatric B-cell lymphoma with germinal center phenotype..     ///    \"Our data indicate that the CBFA2T3/ACSF3 locus is a novel recurrent oncogenic target of IGH translocations, which might contribute to the pathogenesis of pediatric GC-derived B-cell lymphoma.. \"'), ('422', 'RARA_PML', 't(15;17) / ', 'RARA', 'PML', '22535601', '131', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH;PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Apart from a well-known FC pattern of hypergranular APL, we presented less common immunophenotypic variants of APL, which helps to identify an additional group of patients who would benefit from fast confirmatory FISH and/or PCR testing for t(15;17)/PML-RARA..     ///    \" A total of 97 acute promyelocytic leukemia (APL) patients with adequate flow cytometry (FC) data, bone marrow aspirates and presence of t(15;17)/PML-RARA by cytogenetics and/or FISH studies were analyzed for immunophenotypic pattern. \"'), ('423', 'MLL_AFF1', '', 'MLL', 'AFF1', '21900057', '131', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'All seven ALL patients with B cell acute lymphoblastic leukemia were characterized by the MLL/AFF1 fusion gene resulting from a translocation (5 patients) or an insertion (2 patients). '), ('424', 'RAP1GDS1_NUP98', 't(4;11) / t(11;21)(p15;p13) / ', 'RAP1GDS1', 'NUP98', '16419055', '131', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;myelodysplastic syndrome\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', '', 'Rearrangements of NUP98 were identified in two patients, both showing 11p abnormalities in the diagnostic karyotype: a t(4;11)(q1?3;p15) with expression of the NUP98-RAP1GDS1 fusion product detected in a 60-year-old woman with AML-M0, and an add(11)(p15) with a der(21)t(11;21)(p15;p13) observed cytogenetically in a 1-year-old boy with AML-M7. '), ('425', 'ZNF198_FGFR1', 't(8;13)(p11;q12) / t(8;13)  / ', 'ZNF198', 'FGFR1', '9716603', '131', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', 'Kinase', '', '', '', '', 'KB', '', 'An identical ZNF198-FGFR1 fusion was detected in the three patients with a t(8;13) for whom RNA was available.     ///    reciprocal FGFR1-ZNF198 transcripts were not detected.     ///    ZNF198-FGFR1 includes the five MYM domains of ZNF198 and the intracellular tyrosine kinase domain of FGFR1. '), ('426', 'EML4_ALK', '', 'EML4', 'ALK', '22296236', '130', 'bronchioloalveolar carcinoma', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'However, FISH studies failed to reveal EML4-ALK and KIF5B-ALK fusion genes in this BAC.    ///    \"However, FISH studies failed to reveal EML4-ALK and KIF5B-ALK fusion genes in this BAC. \"    ///    Small non-mucinous bronchioloalveolar carcinoma with anaplastic lymphoma kinase immunoreactivity: a novel ALK fusion gene? Echinoderm microtubule-associated protein-like 4 and anaplastic lymphoma kinase (EML4-ALK) and kinesin family member 5B (KIF5B)-ALK are newly identified transforming fusion oncogenes causing non-small-cell lung cancers.    ///     Echinoderm microtubule-associated protein-like 4 and anaplastic lymphoma kinase (EML4-ALK) and kinesin family member 5B (KIF5B)-ALK are newly identified transforming fusion oncogenes causing non-small-cell lung cancers. '), ('427', 'KIF5B_ALK', '', 'KIF5B', 'ALK', '22296236', '130', 'bronchioloalveolar carcinoma', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'However, FISH studies failed to reveal EML4-ALK and KIF5B-ALK fusion genes in this BAC.    ///    \"However, FISH studies failed to reveal EML4-ALK and KIF5B-ALK fusion genes in this BAC. \"    ///     Echinoderm microtubule-associated protein-like 4 and anaplastic lymphoma kinase (EML4-ALK) and kinesin family member 5B (KIF5B)-ALK are newly identified transforming fusion oncogenes causing non-small-cell lung cancers. '), ('428', 'HEY1_NCOA2', '', 'HEY1', 'NCOA2', '25336010', '130', 'chondrosarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', 'KB', '', 'Mesenchymal chondrosarcoma diagnosed on FISH for HEY1-NCOA2 fusion gene.    ///    This case suggests that the detection of the HEY1-NCOA2 fusion gene on FISH is of diagnostic value for MC.    ///    This case suggests that the detection of the HEY1-NCOA2 fusion gene on FISH is of diagnostic value for MC.     ///    Mesenchymal chondrosarcoma diagnosed on FISH for HEY1-NCOA2 fusion gene..     ///    \"Recently, a tumor-specific HEY1-NCOA2 fusion gene was identified in MC. \"    ///    Here we report the case of a 9-year-old boy who was diagnosed with MC by detection of HEY1-NCOA2 fusion signals in almost 50% of tumor cells in tissue sections on fluorescence in situ hybridization (FISH). '), ('429', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '15621768', '130', 'endomyocardial fibrosis;eosinophilic leukemia;lymphoblastic leukemia', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Cytogenetics, FISH and molecular analysis showed the presence of the FIP1L1/PDGFRA fusion gene, recently detected in a majority of HES patients.     ///    The fusion gene FIP1L1-PDGFRA was found significantly decreased after a few months of treatment. '), ('430', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '16768285', '130', 'angioedema', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In both patients, fluorescence-in-situ-hybridisation (FISH) was negative for the fusion gene FIP1L1-PDGFRA (FIPI-like-1-platelet-derived growth factor receptor alpha). '), ('431', 'BIRC6_ALK', '', 'BIRC6', 'ALK', '26001147', '130', '', 'FISH', 'Kinase', 'Oncogene', '', '', '', '', '', 'BIRC6-ALK, a Novel Fusion Gene in ALK Break-Apart FISH-Negative Lung Adenocarcinoma, Responds to Crizotinib.. '), ('432', 'MALT1_API2', 't(11;18)  / ', 'MALT1', 'API2', '19961773', '130', 'MALT lymphoma', 'FISH ', '', '', '', '', '', '', '', 'Four different probes were available to detect for API2-MALT1 fusion gene, bcl-10, IgH and MALT1 gene, respectively. '), ('433', 'BCR_ABL1', 't(9;22)  / ', 'BCR', 'ABL1', '11801308', '129', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' A case of Philadelphia (Ph)-positive acute lymphoblastic leukemia (ALL) with multiple subclones including duplication of the BCR-ABL1 fusion gene and of the Abelson oncogene (ABL1) is reported.     ///    \"In one subclone the normal 9 was lost and replaced by an acrocentric marker, which contained an additional copy of the BCR-ABL1 fusion gene. \"    ///    \"Reverse transcriptase polymerase chain reaction detected the fusion transcripts p210 (e13a2 junction) and p190 (e1a2 junction), whereas fluorescence in situ hybridization showed the major BCR-ABL1 junction in both Ph chromosomes, strongly suggesting that the presence of the p210 and p190 proteins in this case was due to mechanisms of alternative or mis-splicing at the transcriptional level. \"'), ('434', 'RUNX1_ETV6', 't(12;21)(p13;q22) / ', 'RUNX1', 'ETV6', '17284366', '129', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'The procedure was tested with CD10(+) acute lymphoblastic leukemia cell line harboring the t(12;21)(p13;q22) resulting in the ETV6/RUNX1 rearrangement (formerly TEL/AML1), as well as peripheral blood lymphocytes of healthy individuals.     ///    Automated detection of residual leukemic cells by consecutive immunolabeling for CD10 and fluorescence in situ hybridization for ETV6/RUNX1 rearrangement in childhood acute lymphoblastic leukemia.. '), ('435', 'ETO_AML1', 't(15;17) / t(15;17)(q22;q12) / t(8;21)(q22;q22) / t(15;17)  / t(8;21)  / ', 'ETO', 'AML1', '10221524', '129', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH', '', '', '', '', '', '', '', 'Aml1/ETO and Pml/RARA rearrangements in a case of AML-M2 acute myeloblastic leukemia with t(15;17)..     ///    FISH analyses using specific probes for t(15;17) and t(8;21) detected both PML/RARalpha and AML1/ETO rearrangements in a few percentage of cells.     ///    This case demonstrates the complexities that may occur between cytology and cytogenetic findings and the usefulness of FISH methods to detect an AML1/ETO rearrangement only suspected by cytological examination of bone marrow smears.. '), ('436', 'IRF4_DUSP22', '6p25.3 / ', 'IRF4', 'DUSP22', '25131361', '129', 'anaplastic large cell lymphoma,', 'FISH', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'FISH analyses were performed using an IRF4-DUSP22 break-apart probe for the study of the 6p25.3 rearrangement.     ///    \"DUSP22-IRF4 locus translocation is present in 20-57% of C-ALCLs, and has also been described in a series of 11 lymphomatoid papulosis patients, where it was associated with a particular biphasic histological pattern, including pagetoid reticulosis-type epidermal infiltration. \"'), ('437', 'MLL_CBP', 't(9;11)(p22;q23) / t(11;16) / t(9;11)  / ', 'MLL', 'CBP', '15075073', '129', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Fluorescence in situ hybridization (FISH) was performed in two acute leukemias (AL), one acute myeloid leukemia (AML) M5a, and one treatment-related-AL (t-AL), to investigate the nature of complex changes accompanying the respective t(9;11)(p22;q23)-MLL/AF9 and t(11;16)(q23;p13.3)-MLL/CBP. '), ('438', 'SERPINE1_FOSB', 't(7;19)(q22;q13) / t(7;19)  / ', 'SERPINE1', 'FOSB', '24374978', '129', '', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', '', '', 'A novel SERPINE1-FOSB fusion gene results in transcriptional up-regulation of FOSB in pseudomyogenic haemangioendothelioma..     ///    \"Further studies are needed to understand the cellular impact of the aberrant expression of the FOSB gene, but as the t(7;19) resulting in the SERPINE1-FOSB fusion seems to be pathognomonic for PHE, FISH or RT-PCR could be useful for differential diagnostic purposes.. \"    ///    Interphase FISH on sections from eight additional PHEs identified the same SERPINE1-FOSB fusion in all cases. '), ('439', 'TEL_AML1', 't(12;21)(p13;q22) / del(6q) / del(6q)  / ', 'TEL', 'AML1', '23098478', '129', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'TEL/AML1 and MYB which detect cryptic rearrangements of t(12;21)(p13;q22) and deletion of (6q) respectively, associated with a good prognosis. '), ('440', 'NUP98_DDX10', 'inv(11)(p15q22) / t(5;11)(q35;p15) / t(11;20)(p15;q12) / ', 'NUP98', 'DDX10', '15951287', '128', 'acute myeloid leukemia;myeloid leukemia;leukemia;hematopoietic malignancy;hematologic malignancy\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'Two cases showed an inv(11)(p15q22)/NUP98-DDX10 fusion, one each displayed a t(5;11)(q35;p15)/NUP98-NSD1 and a t(11;20)(p15;q12)/NUP98-TOP1 fusion, and one case with a putative new fusion partner gene at 3p24 was identified. '), ('441', 'TOP1_NUP98', 'inv(11)(p15q22) / t(5;11)(q35;p15) / t(11;20)(p15;q12) / ', 'TOP1', 'NUP98', '15951287', '128', 'acute myeloid leukemia;myeloid leukemia;leukemia;hematopoietic malignancy;hematologic malignancy\r\r', 'FISH ', '', '', '', '', '', 'KB', '', 'Two cases showed an inv(11)(p15q22)/NUP98-DDX10 fusion, one each displayed a t(5;11)(q35;p15)/NUP98-NSD1 and a t(11;20)(p15;q12)/NUP98-TOP1 fusion, and one case with a putative new fusion partner gene at 3p24 was identified. '), ('442', 'PCM1_JAK2', 't(8;9)(p22;p24) / t(8;9)(p21-23;p23-24) / t(8;9)  / ', 'PCM1', 'JAK2', '15805263', '128', 'acute lymphoid leukemia;chronic myeloid leukemia;eosinophilic leukemia;hematologic malignancy', 'FISH;PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'We conclude that human autoantigen pericentriolar material (PCM1)-JAK2 is a novel, recurrent fusion gene in hematologic malignancies.     ///    Reverse transcription-PCR and fluorescence in situ hybridization confirmed the fusion in this case and also identified PCM1-JAK2 in the six other t(8;9) patients.     ///    Reciprocal JAK2-PCM1 mRNA was not detected in any patient.     ///    Patients with PCM1-JAK2 disease are attractive candidates for targeted signal transduction therapy.. '), ('443', 'NUP98_NSD1', 'inv(11)(p15q22) / t(5;11)(q35;p15) / t(11;20)(p15;q12) / ', 'NUP98', 'NSD1', '15951287', '128', 'acute myeloid leukemia;myeloid leukemia;leukemia;hematopoietic malignancy;hematologic malignancy\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Two cases showed an inv(11)(p15q22)/NUP98-DDX10 fusion, one each displayed a t(5;11)(q35;p15)/NUP98-NSD1 and a t(11;20)(p15;q12)/NUP98-TOP1 fusion, and one case with a putative new fusion partner gene at 3p24 was identified. '), ('444', 'KAT6A_CREBBP', 't(8;16)(p11;p13) / t(8;21)(p11;q22) / t(1;16)(p13;p13) / ', 'KAT6A', 'CREBBP', '24798186', '128', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', 'Seq', ' An acute myeloid leukemia was suspected of having a t(8;16)(p11;p13) resulting in a KAT6A-CREBBP fusion because the bone marrow was packed with monoblasts showing marked erythrophagocytosis.     ///    Comparison between karyotyping-FISH-reverse transcription PCR and RNA-sequencing-fusion gene identification programs in the detection of KAT6A-CREBBP in acute myeloid leukemia..     ///    The leukemic cells were examined in two ways to find out whether a cryptic KAT6A-CREBBP was present.     ///    RT-PCR followed by Sanger sequencing of the amplified product showed that a chimeric KAT6A-CREBBP transcript was present in the patients bone marrow.     ///    FISH analysis indicated the presence of a KAT6A/CREBBP chimera. '), ('445', 'MOZ_CBP', 't(8;13)(p11;q12) / t(8;16)(p11;p13) / t(8;16)  / t(8;16) / inv(8)(p11q13) / t(8;13)  / inv(8) / t(8;13) / inv(8)  / ', 'MOZ', 'CBP', '9376594', '128', 'acute myeloid leukemia;myeloproliferative disorder;chronic myeloid leukemia;myeloid leukemia;non Hodgkin lymphoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Southern blotting with a CBP probe and RT-PCR with MOZ and CBP primers suggested that the inv(8) does not result in a cryptic MOZ-CBP fusion. '), ('446', 'NTRK3_ETV6', 't(12;15)(p13;q25) / ', 'NTRK3', 'ETV6', '23807775', '127', 'acinic cell carcinoma', 'FISH ', 'Kinase', '', '', '', '', 'KB', 'Seq', ' Mammary analog secretory carcinoma of salivary gland is a recently described entity with unique morphologic, clinical, and genetic characteristics, including the characteristic t(12;15)(p13;q25) with ETV6-NTRK3 translocation found in secretory carcinomas of the breast.     ///    \"Mammary analog secretory carcinoma of salivary gland is a recently described entity with unique morphologic, clinical, and genetic characteristics, including the characteristic t(12;15)(p13;q25) with ETV6-NTRK3 translocation found in secretory carcinomas of the breast.\"    ///    The ETV6-NTRK3 gene rearrangement was detected in three tumors. '), ('447', 'DUX4_CIC', 't(4;19)  / ', 'DUX4', 'CIC', '22072439', '127', 'ewing sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', '', 'Although CIC-DUX4 resulting in a t(4;19) translocation has been previously described in primitive sarcomas, this is the first report implicating the related DUX4 on 10q26 in oncogenesis.     ///    \"Tumors positive for CIC-DUX4 fusion occurred mainly in male young adult patients (median age: 29 years), with the extremities being the most frequent location. \"'), ('448', 'ETV6_NTRK3', '', 'ETV6', 'NTRK3', '21401966', '127', 'acute myeloid leukemia;myeloid leukemia;leukemia;breast carcinoma;sarcoma\r\r', 'FISH;PCR', 'Kinase', '', '', '', '', 'KB', 'Seq', 'The NTRK3 gene on chromosome 15 was found to constitute the 3\' end of the fusion gene and the underlying ETV6-NTRK3 rearrangement was verified by reverse transcriptase PCR.    ///    The NTRK3 gene on chromosome 15 was found to constitute the 3\' end of the fusion gene and the underlying ETV6-NTRK3 rearrangement was verified by reverse transcriptase PCR.     ///    No RNA of the reciprocal NTRK3-ETV6 fusion gene could be detected.    ///    No RNA of the reciprocal NTRK3-ETV6 fusion gene could be detected.     ///    ETV6-NTRK3 rearrangements have been described in secretory breast carcinoma and congenital fibrosarcoma..    ///    ETV6-NTRK3 rearrangements have been described in secretory breast carcinoma and congenital fibrosarcoma.. '), ('449', 'MLLT3_MLL', 't(1;9;11) / p22;q23 / t(1;9;11)  / ', 'MLLT3', 'MLL', '21474990', '127', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR', '', 'Oncogene', '', '', '', '', 'Seq', 'Three-way translocation of MLL/MLLT3, t(1;9;11)(p34.2;p22;q23), in a pediatric case of acute myeloid leukemia..     ///    \"To our knowledge, this is the first description of t(1;9;11) with clinical and laboratory data, including the data for the involved genes, MLL/MLLT3.. \"    ///    \"This abnormality was involved in MLL/MLLT3 rearrangement, which was confirmed by qualitative multiplex reverse transcription-PCR and interphase FISH. \"'), ('450', 'NUT_BRD4', 't(15;19) / ', 'NUT', 'BRD4', '15483023', '127', '', 'FISH ', 'Kinase', '', '', '', '', 'KB', '', ' A balanced chromosomal translocation, t(15;19), resulting in the BRD4-NUT oncogene, has been identified in a lethal carcinoma of young people, a disease described primarily in case reports.     ///    \"Eleven tumors had NUT gene rearrangements, including eight with BRD4-NUT fusions and three with novel rearrangements, which were designated as NUT variant. \"    ///    \"NRCs arise from midline structures in young people, and NRCs with BRD4-NUT are highly lethal, despite intensive therapies. \"    ///    \"In this first description of NUT-variant carcinomas, the average survival (96 weeks, n = 3) was longer than for BRD4-NUT carcinomas (28 weeks, n = 8). \"    ///    NUT-variant carcinomas might have a less fulminant clinical course than those with BRD4-NUT fusions. '), ('451', 'MLL_GRAF', 't(5;11)(q31;q23) / ', 'MLL', 'GRAF', '15382263', '127', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR ', '', '', '', '', '', '', '', 'The MLL/GRAF fusion, in which the reciprocal hybrid was not expressed, suggesting that the former transcript was the leukemogenic one, was detected in a juvenile myelomonocytic leukemia with a t(5;11)(q31;q23).     ///    \"On the basis of the now-reported two cases with MLL/GRAF, we conclude that this transcript--but not the reciprocal one--characterizes a rare genetic subgroup of infant AML.. \"    ///    \"As expected, the reciprocal GRAF/MLL was neither expressed nor generated at the genomic level as a consequence of the ins(5;11)(q31;q23q23). \"    ///    MLL/GRAF fusion in an infant acute monocytic leukemia (AML M5b) with a cytogenetically cryptic ins(5;11)(q31;q23q23)..     ///    \"Here, we report a second case--an infant acute monocytic leukemia (AML M5b)--with an MLL/GRAF fusion. \"    ///    \"The putative MLL/GRAF fusion protein would retain the AT-hook DNA-binding domain, the DNA methyl transferase motif, the transcription repression domain of MLL, and the SH3 domain of GRAF. \"    ///    \"Some of these chimeras are rather common, such as MLL/MLLT3(AF9), but many are quite rare, with some, for example, MLL/GRAF, described only in a single case. \"'), ('452', 'STAT6_NAB2', '', 'STAT6', 'NAB2', '23761323', '127', 'solitary fibrous tumor\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Comprehensive genetic analysis identifies a pathognomonic NAB2/STAT6 fusion gene, nonrandom secondary genomic imbalances, and a characteristic gene expression profile in solitary fibrous tumor..     ///    \"Subsequent reverse-transcriptase PCR (RT-PCR) analysis identified a NAB2/STAT6 fusion in 37/41 cases, confirming that this fusion gene underlies the pathogenesis of SFT. \"    ///    The hypothesis that the NAB2/STAT6 fusions will result in altered properties of the transcriptional co-repressor NAB2--a key regulator of the early growth response 1 (EGR1) transcription factor - was corroborated by global gene expression analysis.     ///    \"Quantitative real-time PCR revealed high expression levels of the 5\'-end of NAB2 and the 3\'-end of STAT6, which at deep sequencing of enriched DNA corresponded to NAB2/STAT6 fusions. \"'), ('453', 'MALT1_API2', 't(11;18) / t(1;14) / t(14;18) / t(6;7)(q25;q11) / ', 'MALT1', 'API2', '18927281', '127', 'MALT lymphoma', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', ' The well-known translocations identified in MALT lymphomas include t(11;18)/API2-MALT1, t(1;14)/IGH-BCL10, and t(14;18)/IGH-MALT1.     ///    \"3 cases had t(11;18)/API2-MALT1 and 1 case had novel t(6;7)(q25;q11), respectively. \"'), ('454', 'NR4A3_EWSR1', 't(9;22) (q22;q12) / ', 'NR4A3', 'EWSR1', '19775727', '127', 'chondrosarcoma;ewing sarcoma;sarcoma\r\r', 'FISH ', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', '', 'Most cases of EMC harbor the chromosomal reciprocal translocation t(9;22) (q22;q12) and the resultant fused gene, Ewing sarcoma region 1-nuclear receptor subfamily 4, group A, member 3 (EWSR1-NR4A3). '), ('455', 'TEL_MN1', 'del(22)(q12.2) / del(22) / ', 'TEL', 'MN1', '22436304', '127', 'craniofacial abnormalities;neuroectodermal tumor;neurofibroma;vestibular schwannomas', 'FISH', '', '', '', '', '', '', '', 'MN1, initially cloned from a patient with meningioma, is an oncogene in murine hematopoiesis and participates as a fusion gene (TEL/MN1) in human myeloid leukemias. '), ('456', 'NUT_BRD4', 't(15;19)  / t(15;19) / ', 'NUT', 'BRD4', '22425924', '127', 'thymic carcinoma', 'FISH ', 'Kinase', '', '', '', '', 'KB', '', 'These tumors are characterized byrearrangement of the NUT (nuclear protein in testis) gene on chromosome 15q14, which in most cases fuses to the bromodomain containing 4 (BRD4) gene on chromosome 19 p13.1 through reciprocal t(15;19) translocation, resulting in constitutive BRD4-NUTfusion protein expression. '), ('457', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '24171957', '127', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'The copy number of AML1, ETO, WT1, p27, c- kit and the AML1-ETO fusion gene in AML1-ETO positive cells was counted.     ///    \"In these 36 primary cases, 4 cases (11.1%) acquired additional AML1-ETO fusion signal, 3(8.3%) had additional AML1 signal, 4(11.1%) had additional ETO signal, 20(55.6%) had additional WT1 signal, 15(41.7%) had additional p27 signal and 14(38.9%) had additional c-kit signal. \"'), ('458', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '26823883', '127', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Isochromosome 17 in APL which usually bears an additional copy of RARA/PML fusion gene is considered to be a negative factor on its prognosis.     ///    Cryptic t(15;17) on i(17q) leads to an extra copy of PML/RARA rather than RARA/PML which may confer a worse prognosis. '), ('459', 'WWTR1_CAMTA1', 't(1;3)(p36;q25) / ', 'WWTR1', 'CAMTA1', '21948309', '127', 'epithelioid hemangioendothelioma;vascular neoplasm', 'FISH ', '', '', '', '', 'Transcription_Factor', '', '', 'The recurrent t(1;3)(p36;q25) chromosomal translocation, resulting in WWTR1-CAMTA1 fusion, recently identified in EHE of various anatomic sites, but not in EH or other epithelioid vascular neoplasms, suggests distinct pathogeneses. '), ('460', 'IGH_BCL2', 't(14;18)  / t(14;18)(q32;q21) / t(14;18) / ', 'IGH', 'BCL2', '15700138', '127', 'leukemia;follicular lymphoma;B cell lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'DC-FISH defined BCL2/IgH fusion signals at 1p36 in addition to t(14;18), suggesting that BCL2/IgH fusion at 1p36 was an evolutionary alteration following the primary BCL2/IgH translocation on der(18) in both cases. '), ('461', 'MALT1_API2', 't(11;18)  / t(14;18)  / ', 'MALT1', 'API2', '26457033', '127', 'MALT lymphoma;lymphoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Thirty ocular adnexal MALT lymphomas were investigated for the t(11;18) API2-MALT1, t(14;18) IgH-MALT1 translocations and chromosomes 3 and 18 aneuploidies using fluorescence in situ hybridization.     ///    \"The t(14;18) IgH-MALT1 translocation was demonstrated in only one case (3.3%), and the t(11;18) API2-MALT1 translocation was not found in any of the cases. \"'), ('462', 'NTRK3_ETV6', 't(12;15)(p13;q25) / ', 'NTRK3', 'ETV6', '23225548', '127', 'acinic cell carcinoma;adenocarcinoma\r\r', 'FISH ', 'Kinase', '', '', '', '', 'KB', 'Seq', ' Mammary analogue secretory carcinoma (MASC) of the salivary glands is a newly described tumor entity associated with the t(12;15)(p13;q25) ETV6-NTRK3 translocation. '), ('463', 'MYB_NFIB', 't(6;9)(q22-23;p23-24) / ', 'MYB', 'NFIB', '26309189', '127', 'adenoid cystic carcinoma\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', ' A significant portion of adenoid cystic carcinoma (ACC) cases are characterized by a t(6;9)(q22-23;p23-24) translocation that originates a MYB-NFIB fusion oncogene. '), ('464', 'TEL_AML1', '', 'TEL', 'AML1', '9389711', '126', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'However, little is known about the incidence of the translocation in relapsed patients and the duration of complete remission (CR) in children expressing the TEL/AML1 fusion gene.     ///    Incidence of TEL/AML1 fusion gene analyzed consecutively in children with acute lymphoblastic leukemia in relapse..     ///    \"Most of the TEL/AML1-positive children showed no adverse clinical features at diagnosis (eg, white blood cell [WBC] count <100 x 10(9)/L or age <10 years), and regarding these data, there were no differences versus children who were negative for the fusion gene. \"    ///    \"However, using fluorescence in situ hybridization (FISH) and by screening for the TEL/AML1 rearrangement by the polymerase chain reaction (PCR), it has been demonstrated to be the most frequent known structural chromosomal abnormality in childhood acute lymphoblastic leukemia (ALL). \"    ///    \"The TEL/AML1 rearrangement could be identified in nine of 44 (20%) of the patients, a result similar to the reported incidence at diagnosis. \"    ///    \"However, the period of remission was about 1 year longer in children expressing TEL/AML1 (P = .046), and the majority of relapses in this group appeared late (<2 years after diagnosis). \"'), ('465', 'SMARCA5_EWSR1', 't(4;22)(q31;q12) / ', 'SMARCA5', 'EWSR1', '21113140', '126', 'ewing sarcoma;neuroectodermal tumor;sarcoma\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', '', 'A novel t(4;22)(q31;q12) produces an EWSR1-SMARCA5 fusion in extraskeletal Ewing sarcoma/primitive neuroectodermal tumor..     ///    \"Conversely, expression of EWSR1-hSNF2H in NIH3T3 cells, unlike EWSR1-ETS fusions, did not induce EAT-2 expression. \"    ///    \"Mapping analysis demonstrated that deletion of the C-terminus (SLIDE or SANT motives) of hSNF2H impaired, and deletion of the SNF2_N domain fully abrogated NIH3T3 cell transformation by EWSR1-SMARCA5. \"    ///    It is proposed that EWSR1-hSNF2H may act as an oncogenic chromatin-remodeling factor and that its expression contributes to Ewing sarcoma/primitive neuroectodermal tumorigenesis.     ///    \"Analogous to EWSR1-ETS-expressing NIH3T3 cells, NIH3T3 cells expressing EWSR1-hSNF2H exhibited anchorage-independent growth and formed colonies in soft agar, indicating chimeric protein tumorigenic potential. \"'), ('466', 'TCF3_PBX1', 't(1;19) (q23;p13) / t(1;19) (q23;p13) / / ', 'TCF3', 'PBX1', '25116187', '126', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'TCF3 rearrangement mostly t(1;19) (q23;p13)/ TCF3-PBX1 gene is associated with favorable outcome in acute lymphoblastic leukemia (ALL) upon treatment with intensification protocols; however, it is associated with higher incidence of central nervous system (CNS) relapse which may affect outcome of patients.    ///     TCF3 rearrangement mostly t(1;19) (q23;p13)/ TCF3-PBX1 gene is associated with favorable outcome in acute lymphoblastic leukemia (ALL) upon treatment with intensification protocols. '), ('467', 'ETV6_ABL1', 'p13;q34q34 / ', 'ETV6', 'ABL1', '19480935', '126', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Insertion (12;9)(p13;q34q34): a cryptic rearrangement involving ABL1/ETV6 fusion in a patient with Philadelphia-negative chronic myeloid leukemia..     ///    \"CML patients with an ABL1/ETV6 fusion historically have demonstrated a variable and sometimes transient response to treatment with imatinib mesylate, which was also the case in the present patient.. \"'), ('468', 'CCND1_TBP', 't(11;14)(q13;q32) / t(11;14)  / ', 'CCND1', 'TBP', '15090460', '126', 'multiple myeloma\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'High levels of cyclin D1 mRNA (cyclin D1/TBP [TATA box binding protein] ratio > 95) were found exclusively in the presence of a t(11;14) translocation (11/48 cases.     ///    \"In addition, a subgroup of MM cases (15/48) with intermediate to low cyclin D1 mRNA (cyclin D1/TBP ratio between 2.3 and 20) was identified. \"'), ('469', 'RUNX1_PRDM16', 't(1;21)(p36;q22) / 1p36.32 / 1p36.12 / ', 'RUNX1', 'PRDM16', '18767145', '126', 'myeloproliferative disorder;chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'However, no cryptic t(1;21)(p36;q22) and/or RUNX1-PRDM16 were detected, suggesting that these deletions are the residual hallmarks of a more complex mechanism of chromosomal rearrangement, as indicated by the additional inversion of the region bounded by 1p36.32 and 1p36.12 breaks.     ///    Cryptic and partial deletions of PRDM16 and RUNX1 without t(1;21)(p36;q22) and/or RUNX1-PRDM16 fusion in a case of progressive chronic myeloid leukemia: a complex chromosomal rearrangement of underestimated frequency in disease progression?. '), ('470', 'ETV6_AML1', 't(9;22)(q34;q11) / t(12;21)(p13;q22) / t(1;19)(q23;p13) / t(8;14)(q24;q32) / ', 'ETV6', 'AML1', '11333138', '126', 'T ALL\r\r', 'FISH ', '', '', '', '', '', '', '', 'These include t(9;22)(q34;q11) and BCR/ABL, rearrangements of 11q23 involving MLL, t(12;21)(p13;q22) with the ETV6/AML1 fusion, t(1;19)(q23;p13) with E2A/PBX1, t(8;14)(q24;q32) and the immunoglobulin genes. '), ('471', 'TEL_AML1', '', 'TEL', 'AML1', '11601199', '125', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Both RT-PCR and FISH techniques were proved to be useful for detecting TEL-AML1 fusion gene and suitable for clinical diagnosis and prognosis evaluation..     ///    Nested RT-PCR and dual-color FISH techniques were used to detect TEL-AML1 fusion gene.     ///    \" To determine the incidence of TEL-AML1 fusion gene and its role in clinical diagnosis and prognosis of childhood B-lineage acute lymphoblastic leukemia (B-ALL), and to compare the two techniques: nested RT-PCR and dual-color fluorescence in situ hybridization (FISH). \"    ///    [Study of TEL-AML1 fusion gene in childhood B-lineage acute lymphoblastic leukemia]..     ///    TEL-AML1 fusion transcript was found in 22.5%(9/40) of patients with B-ALL by RT-PCR.     ///    The prognosis of these TEL-AML1 positive patients was relatively good and the complete remission rate was 100%. '), ('472', 'PDGFB_COL1A1', 't(17;22)  / ', 'PDGFB', 'COL1A1', '20439456', '125', 'dermatofibrosarcoma protuberans;sarcoma\r\r', 'FISH ', '', 'Oncogene', '', '', '', 'KB', '', 'The COL1A1-PDGFB fusion gene was detected in 21 out of 25 patients following fluorescence in situ hybridization analysis (two cases were noninformative).     ///    A t(17;22) translocation resulting in COL1A1-PDGFB fusion is present in >95% of cases. '), ('473', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '20651988', '125', 'prostate cancer;prostatic intraepithelial neoplasia\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2-ERG gene fusions occur in 50% of prostate cancers and result in the overexpression of a chimeric fusion transcript that encodes a truncated ERG product.    ///     TMPRSS2-ERG gene fusions occur in 50% of prostate cancers and result in the overexpression of a chimeric fusion transcript that encodes a truncated ERG product.     ///    \"Epitomics, Burlingame, CA) using immunoblot analysis on prostate cancer cell lines, synthetic TMPRSS2-ERG constructs, chromatin immunoprecipitation, and immunofluorescence. \"    ///    \"Here, we characterize a rabbit anti-ERG monoclonal antibody (clone EPR 3864; Epitomics, Burlingame, CA) using immunoblot analysis on prostate cancer cell lines, synthetic TMPRSS2-ERG constructs, chromatin immunoprecipitation, and immunofluorescence.\"'), ('474', 'PDGFB_COL1A1', 't(17;22)(q21;q13) / ', 'PDGFB', 'COL1A1', '16980946', '125', 'dermatofibrosarcoma;dermatofibrosarcoma,', 'FISH ', '', 'Oncogene', '', '', '', 'KB', '', 'Copy number of COL1A1-PDGFB fusion gene in the classic dermatofibrosarcoma protuberans areas does not seem to be a major predisposing mechanism for fibrosarcomatous transformation..     ///    Four fibrosarcomatous dermatofibrosarcoma protuberans did not show genomic gains of COL1A1-PDGFB fusion gene between the two areas.     ///    Genomic gains of COL1A1-PDGFB fusion gene is possibly an oncogenic mechanism that is identified in the clonal evolution of a subset of dermatofibrosarcoma protuberans that evolves into fibrosarcomatous dermatofibrosarcoma protuberans.     ///    \"Essentially no difference in the copy number of COL1A1-PDGFB fusion gene was observed between dermatofibrosarcoma protuberans areas of classic dermatofibrosarcoma protuberans and dermatofibrosarcoma protuberans areas of fibrosarcomatous dermatofibrosarcoma protuberans (median PDGFB copy gain of 1.8 versus 1.7, respectively, P=0.36). \"    ///    The aims of this study were to evaluate (1) whether genomic gains of this fusion gene occur during the clonal evolution of dermatofibrosarcoma protuberans into fibrosarcomatous dermatofibrosarcoma protuberans and (2) whether there is a difference between the number of genomic copies of COL1A1-PDGFB between classic dermatofibrosarcoma protuberans and dermatofibrosarcoma protuberans areas associated with fibrosarcomatous dermatofibrosarcoma protuberans.     ///    \"Genomic gains of the COL1A1-PDGFB gene were observed in six (of 10) fibrosarcomatous dermatofibrosarcoma protuberans in the fibrosarcomatous areas when compared to the dermatofibrosarcoma protuberans areas of the same tumor (2-7 gene copies (median PDGFB copy gain, 2.8) versus 1-3 gene copies (median PDGFB copy gain, 1.7), respectively, P=0.004). \"    ///    Gains of COL1A1-PDGFB genomic copies occur in fibrosarcomatous transformation of dermatofibrosarcoma protuberans..     ///    Genomic copies of COL1A1-PDGFB were evaluated by fluorescence in situ hybridization using a custom designed probe for the PDGFB locus on 4 mum thick paraffin-embedded tissue sections.     ///    \"The product of this chromosomal translocation is the chimeric gene COL1A1-PDGFB (collagen type I alpha I-platelet-derived growth factor beta), which is amplified at low levels in the ring chromosome. \"'), ('475', 'FLI_EWS', 't(11;22) (q24;q12) / t(21;22) (q22;q12) / ', 'FLI', 'EWS', '11852516', '125', 'neuroectodermal tumor\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'Despite the poor response to standard therapy combining surgical resection, postoperative irradiation and chemotherapy, the results might change due to current research on genetic therapy based on creating antisense oligonucleotides against the EWS-FLI 1 fusion gene.. '), ('476', 'MLL_AF10', 't(21;22)(q22;q12) / ', 'MLL', 'AF10', '9071576', '125', 'ewing sarcoma;leukemia;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'A chromosomal inversion/insertion has also been described in acute leukemia with the MLL-AF10 fusion gene, and this may be a common pathway for producing fusion of reverse-oriented genes in leukemias and solid tumors.. '), ('477', 'SYT_SSX', 't(17;22)(q12;q12) / p11.2;q11.2 / ', 'SYT', 'SSX', '12377409', '125', 'synovial sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Southern blot analysis also confirmed that the detected messages were derived from the SYT-SSX fusion gene. '), ('478', 'NR4A3_FUS', 't(9;16) / t(9;22)(q22;q12) / ', 'NR4A3', 'FUS', '25130955', '125', 'chondrosarcoma;sarcoma\r\r', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'Extraskeletal myxoid chondrosarcoma with a t(9;16)(q22;p11.2) resulting in a NR4A3-FUS fusion.. '), ('479', 'IGH_BCL2', 't(14;18)(q32;q21) / ', 'IGH', 'BCL2', '21467711', '125', '', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The bone marrow consisted of normal hematopoietic precursors, whereas fluorescence in situ hybridization detected the BCL2/IgH fusion gene. '), ('480', 'RUNX1_ETV6', 't(12;21) / p13.3;q22 / t(9;22) / ', 'RUNX1', 'ETV6', '26514535', '125', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'The highest observed numerical chromosomal alteration was high hyperdiploidy (12.9%) with abnormal karyotypes while abnormal 12p (7.5%) was the highest observed structural abnormality followed by t(12;21)(p13.3;q22) resulting in ETV6/RUNX1 fusion (5.4%) and t(9;22)(q34.1;q11.2) resulting in BCR/ABL1 fusion (4.3%). '), ('481', 'SYT_SSX2', 'p11;q11 / ', 'SYT', 'SSX2', '22393780', '125', 'synovial sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', '[Analysis of SYT/SSX1 and SYT/SSX2 fusion genes from synovial sarcoma]..     ///    \"The expression analysis of SYT/SSX1 and SYT/SSX2 chimeric transcripts was performed in formalin-fixed soft tissue tumour specimens and the diagnostic validity of immunohistochemistry, FISH and RT-PCR methods was compared. \"    ///    The chimeric transcripts were detected in 12 from 16 synovial sarcomas: 7 SYT/SSX1 and 5 SYT/SSX2 fusion variants. '), ('482', 'TEL_AML1', 't(9;22)(q34;q11) / t(12;21)(p13;q22) / t(11q23)  / t(9;22) / t(12;21) / ', 'TEL', 'AML1', '19875970', '125', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'However, the sensitivity of karyotyping for detecting the TEL-AML1 fusion gene and the sensitivity of RQ-PCR for detecting MLL-rearrangements was rather low.     ///    \" Chromosomal abnormalities, such as t(9;22)(q34;q11) (ABL/BCR), t(12;21)(p13;q22) (TEL/AML1), and t(11q23) (MLL) are independent prognostic indicators in childhood acute lymphoblastic leukemia resulting in risk adapted therapy. \"'), ('483', 'RARA_PML', 't(15;17)(q22;q21) / t(15;17) / t(11;17)(q23;q21) / t(11;17)(q13;q21) / t(2;17)(p21;q21) / ', 'RARA', 'PML', '22090713', '125', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Among the complex variants of t(15;17), PML-RARA fusion followed by residual RARA insertion closed to PML-RARA on der(15) was unique and unusual.     ///    Forty cases (20%) had atypical PML-RARA and/or RARA variants.     ///    D-FISH with PML/RARA probe helped identification of RARA insertion to PML. '), ('484', 'EWSR1_CREB1', 't(12;22)(q13;q12) / ', 'EWSR1', 'CREB1', '20087159', '125', 'clear cell sarcoma;melanoma;sarcoma\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', 'KB', '', 'This traditional view is put into perspective by the description of primary CCS of the gastrointestinal tract that may have a variant fusion gene EWSR1-CREB1. '), ('485', 'BCR_ABL1', 't(12;21) / p13.3;q22 / t(9;22) / ', 'BCR', 'ABL1', '26514535', '125', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The highest observed numerical chromosomal alteration was high hyperdiploidy (12.9%) with abnormal karyotypes while abnormal 12p (7.5%) was the highest observed structural abnormality followed by t(12;21)(p13.3;q22) resulting in ETV6/RUNX1 fusion (5.4%) and t(9;22)(q34.1;q11.2) resulting in BCR/ABL1 fusion (4.3%). '), ('486', 'SYT_SSX1', 'p11;q11 / ', 'SYT', 'SSX1', '22393780', '125', 'synovial sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', '[Analysis of SYT/SSX1 and SYT/SSX2 fusion genes from synovial sarcoma]..     ///    \"The expression analysis of SYT/SSX1 and SYT/SSX2 chimeric transcripts was performed in formalin-fixed soft tissue tumour specimens and the diagnostic validity of immunohistochemistry, FISH and RT-PCR methods was compared. \"    ///    The chimeric transcripts were detected in 12 from 16 synovial sarcomas: 7 SYT/SSX1 and 5 SYT/SSX2 fusion variants. '), ('487', 'MYB_GATA1', 'p11;q23 / ', 'MYB', 'GATA1', '21474671', '125', 'acute basophilic leukemia', 'FISH ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Identification of a transforming MYB-GATA1 fusion gene in acute basophilic leukemia: a new entity in male infants..     ///    Expression of MYB-GATA1 in mouse lineage-negative cells committed them to the granulocyte lineage and blocked at an early stage of differentiation. '), ('488', 'MLL_AF10', '', 'MLL', 'AF10', '17074587', '124', 'leukemia\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'Our observations indicated that the MLL-AF10 fusion gene resulted from the insertion of part of the region that included the 5\' MLL insertion into 10p12.     ///    \"A case of acute myelogenous leukemia with MLL-AF10 fusion caused by insertion of 5\' MLL into 10p12, with concurrent 3\' MLL deletion.. \"'), ('489', 'MLL_ENL', 't(11;18;19) / t(11;19) / ', 'MLL', 'ENL', '8640717', '124', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Despite the fact that the additional signals of the split YAC clone were observed on the abnormal chromosome 18, reverse transcription polymerase chain reaction (RT-PCR) revealed a MLL/ENL hybrid mRNA, which is specific for a t(11;19)(q23;p13.3).     ///    MLL/ENL fusion in congenital acute lymphoblastic leukemia with a unique t(11;18;19)..     ///    \"Whether this break took place within chromosome 11 or 19 sequences, up- or downstream of the MLL/ENL fusion, and whether this translocation results from a concerted simultaneous exchange of material or from two separate sequential events in consecutive cell generations remains open.. \"'), ('490', 'BCR_ABL1', '', 'BCR', 'ABL1', '11904740', '124', 'acute myeloid leukemia;acute lymphoblastic leukemia;chronic myeloid leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The BCR/ABL1 fusion gene is mainly caused by the t(9.     ///    \"We performed fluorescent in situ hybridization (FISH) with the recently developed BCR/ABL1 D-FISH probe (QBIOgene, Illkirch, F) on cultured bone marrow and peripheral blood cells of 71 patients with CML, ALL, AML, and myeloproliferative disorder (MPD). \"    ///    \"We conclude that D-FISH reliably detects standard Ph chromosomes as well as its variant translocations and accurately quantifies BCR/ABL1 rearrangements prior and during cancer treatment as well as in the phase of remission, in daily routine tumor cytogenetic diagnostics.. \"    ///    High reliability and sensitivity of the BCR/ABL1 D-FISH test for the detection of BCR/ABL rearrangements..     ///    \"Therefore, molecular cytogenetic methods turned out to be useful tools for the detection of BCR/ABL1 rearrangements. \"    ///    The BCR/ABL1 rearrangement is an important tumor classification marker and a useful prognostic factor allowing an adequate therapy management.     ///    \"Based on the analyses of >200 nuclei per patient, D-FISH correlated closely with CC and allowed an accurate quantification of BCR/ABL1 rearrangements even in a low percentage of aberrant cells. \"    ///    \"Furthermore, BCR/ABL1 rearrangements may be hidden due to cryptic rearrangements or complex aberrations. \"    ///    \"Furthermore, the D-FISH probe detected three cryptic and one complex BCR/ABL1 rearrangement, which were not visible by CC. \"'), ('491', 'C6orf80_NUP98', 't(6;11)(q24.1;p15.5) / ', 'C6orf80', 'NUP98', '16028218', '124', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'Characterization of 6q abnormalities in childhood acute myeloid leukemia and identification of a novel t(6;11)(q24.1;p15.5) resulting in a NUP98-C6orf80 fusion in a case of acute megakaryoblastic leukemia.     ///    Characterization of 6q abnormalities in childhood acute myeloid leukemia and identification of a novel t(6;11)(q24.1;p15.5) resulting in a NUP98-C6orf80 fusion in a case of acute megakaryoblastic leukemia.. '), ('492', 'EML4_ALK', '', 'EML4', 'ALK', '23664446', '124', 'non small cell lung cancer', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'To the best of our knowledge, this is the first report concerning the presence of the EML4-ALK fusion gene in a sarcomatoid carcinoma of the lung.     ///    EML4-ALK rearrangement was detected with immunohistochemistry and confirmed with fluorescent in situ hybridization (FISH).     ///    EML4-ALK translocation in both metachronous second primary lung sarcomatoid carcinoma and lung adenocarcinoma: a case report..     ///    \" The EML4-ALK gene translocation was described in a non small cell lung cancer (NSCLC) subset, with a potent oncogenic activity. \"    ///    \"Starting from our evidence, tumors with sarcomatoid histology may need to be screened for the presence of EML4-ALK rearrangement.\"    ///    \"Starting from our evidence, tumors with sarcomatoid histology may need to be screened for the presence of EML4-ALK rearrangement. \"'), ('493', 'MAF_IGH', 't(11;14)(q13;q32) / t(4;14)(p16;q32) / t(11;14) / t(4;14) / t(8;14) / ', 'MAF', 'IGH', '9865713', '124', 'plasma cell leukemia', 'FISH ', '', '', '', '', '', '', '', 'Among the 80 patients with illegitimate IGH rearrangement, we identified 23 IGH-CCND1 fusion cases [i.e., t(11;14)], 17 IGH-FGFR3 fusion cases [i.e., t(4;14)], 3 IGH-MYC fusion cases [i.e., t(8;14)], and only one IGH-MAF fusion case. '), ('494', 'FLI_EWS', 't(1;16)  / t(11;22)(q24q12) / t(11;22)  / t(1;16) / t(21;22)  / ', 'FLI', 'EWS', '8625264', '124', 'ewing sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', ' In Ewing sarcoma and related tumors, recently referred to as the Ewing tumors (ET), t(11;22)(q24q12) and its molecular genetic equivalent, the EWS/FLI-1 rearrangement, characterize approximately 85% of cases, while variant aberrations are rare.     ///    \"However, data on possible biologic differences in EWS/FLI-1 versus EWS/ERG expressing ET are as yet unavailable. \"'), ('495', 'MLLT3_MLL', '', 'MLLT3', 'MLL', '21900057', '124', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR', '', 'Oncogene', '', '', '', '', 'Seq', 'In the 19 AML patients with acute myeloblastic leukemia, 31.6% of all characterized MLL fusion genes were MLL/MLLT3, 21.1% MLL/ELL, 10.5% MLL/MLLT6 and 10.5% MLL/EPS15. '), ('496', 'MLL_KIAA0284', '', 'MLL', 'KIAA0284', '21900057', '124', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'Two patients had rare or undescribed fusion genes, MLL/KIAA0284 and MLL/FLNA. '), ('497', 'NUP98_HOXA9', 't(1;21)(p32;q22) / t(7;11)(p15;p15) / t(1;21)  / ', 'NUP98', 'HOXA9', '19005624', '124', 'leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Additional acquisition of t(1;21)(p32;q22) in a patient relapsing with acute myelogenous leukemia with NUP98-HOXA9..     ///    \"NUP98-HOXA9 was detected again and karyotypic analysis revealed 46,XY, t(1;21)(p32;q22). \"    ///    \" We report a 29-year-old Japanese male with acute myelogenous leukemia (AML)-M4 with a cryptic t(7;11)(p15;p15), in which a chimeric NUP98-HOXA9 fusion was detected by polymerase chain reaction analysis and a chromosomal analysis showed 46,XY. \"    ///    \"The patient received intensive chemotherapy and underwent autologous stem cell transplantation, and remission was confirmed by the disappearance of NUP98-HOXA9. \"'), ('498', 'MLL_ELL', 't(6;11)  / t(11;19) / ', 'MLL', 'ELL', '22927255', '124', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'Three T-ALLs had an MLL-AF6/t(6;11) and two biphenotypic leukemias had an MLL-ELL/t(11;19). '), ('499', 'NUP98_HOXA9', 't(11;12) / t(7;11)(p15;p15) / ', 'NUP98', 'HOXA9', '26542893', '124', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'ETV6-LPXN fusion transcript generated by t(11;12)(q12.1;p13) in a patient with relapsing acute myeloid leukemia with NUP98-HOXA9.. '), ('500', 'MLL_FLNA', '', 'MLL', 'FLNA', '21900057', '124', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR', '', '', '', '', 'Transcription_Factor', '', '', 'Two patients had rare or undescribed fusion genes, MLL/KIAA0284 and MLL/FLNA. '), ('501', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '12970322', '123', 'thyroid carcinoma\r\r', 'FISH;PCR;RT-PCR', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'In this study, a group of 87 thyroid tumors were analyzed to determine the involvement of the PAX8/PPAR gamma fusion gene in these tumors, and also to determine whether this rearrangement can be used as a diagnostic marker for the differentiation between follicular thyroid carcinoma and adenoma.     ///    \"Our findings suggest that PAX8/PPAR gamma occurs frequently in follicular thyroid carcinomas, and the presence of this rearrangement is likely to prove highly suggestive of a malignant tumor. \"    ///    Involvement of the PAX8/peroxisome proliferator-activated receptor gamma rearrangement in follicular thyroid tumors..     ///    Lack of the PAX8/PPAR gamma rearrangement in the anaplastic thyroid carcinoma group suggests that the tumorigenic pathway in these tumors is likely to be independent of this fusion.     ///    \"The PAX8/PPAR gamma rearrangement was detected by RT-PCR, fluorescence in situ hybridization, and/or Western analysis in 10 of 34 (29%) follicular thyroid carcinomas and in one of 20 (5%) atypical follicular thyroid adenomas, but not in any of the 20 follicular thyroid adenomas or 13 anaplastic thyroid carcinomas studied. \"'), ('502', 'NUT_BRD4', '', 'NUT', 'BRD4', '25675182', '123', 'pleural effusion\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', '', '', '', '', 'KB', '', 'Dual-color split-apart fluorescence in situ hybridization (FISH) or reverse transcription polymerase chain reaction (RT-PCR) can be used to characterize the fusion gene, whether BRD4-NUT or BRD3-NUT, or NUT-variant. '), ('503', 'NUT_BRD3', '', 'NUT', 'BRD3', '25675182', '123', 'pleural effusion\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', '', '', '', '', '', '', 'Dual-color split-apart fluorescence in situ hybridization (FISH) or reverse transcription polymerase chain reaction (RT-PCR) can be used to characterize the fusion gene, whether BRD4-NUT or BRD3-NUT, or NUT-variant. '), ('504', 'SYK_ITK', 't(5;9)(q33;q22) / ', 'SYK', 'ITK', '25337257', '123', 'peripheral T cell lymphoma', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'None of these cases showed t(5;9)(q33;q22)/ITK-SYK translocation by FISH.     ///    \"Around one fifth of PTCL-F exhibits t(5;9)(q33;q22)/ITK-SYK chromosomal translocation, which is essentially absent in AITL. \"    ///    \"We confirmed the absence of t(5;9)(q33;q22)/ITK-SYK translocation, which may serve as an additional differential diagnostic tool from PTCL-F when present. \"    ///    \"We retrospectively investigated 35 cases of AITL from Taiwan with histopathology review, immunohistochemistry, in situ hybridization for Epstein-Barr virus (EBV) and fluorescence in situ hybridization (FISH) for t(5;9)(q33;q22)/ITK-SYK and correlated the results with overall survival. \"    ///    \"All PTCL-NOS cases were negative for ITK-SYK translocation with similar rates (38% and 12%, respectively) of gains at ITK and SYK loci as that of AITL. \"'), ('505', 'STAT6_NAB2', '', 'STAT6', 'NAB2', '24030747', '123', 'liposarcoma;solitary fibrous tumor;fibrous histiocytoma;sarcoma;mesothelioma;histiocytoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'A NAB2-STAT6 gene fusion, resulting in a chimeric protein in which a repressor domain of NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2) is replaced with a carboxy-terminal transactivation domain from signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), was recently identified as a consistent finding in SFT. '), ('506', 'BCR_ABL1', '', 'BCR', 'ABL1', '12730117', '123', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Poor outcome cannot be attributed to loss of the reciprocal ABL-BCR fusion gene expression alone, and is likely to reflect loss of one or more critical genes within the deleted region. '), ('507', 'NR4A3_EWSR1', 't(9;22)  / t(9;17)  / t(9;15)  / t(9;3)  / ', 'NR4A3', 'EWSR1', '24508382', '122', 'chondrosarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', '', ' Extraskeletal myxoid chondrosarcoma is characterized by the reciprocal chromosomal translocation t(9;22) and the resultant fused gene EWS RNA-binding protein 1 and nuclear receptor subfamily 4, group A, member 3 (EWSR1-NR4A3).     ///    \"The samples from 42 patients with extraskeletal myxoid chondrosarcoma were examined for the presence of EWSR1-NR4A3, TAF15-NR4A3, TCF12-NR4A3, and TFG-NR4A3 fusion transcripts by using RT-PCR. \"    ///    \"Of the 34 samples evaluable for fusion transcripts, 23 yielded positive results for EWSR1-NR4A3, 10 for TAF15-NR4A3, and 1 for TCF12-NR4A3. \"    ///    \"Of the 34 samples evaluable for fusion transcripts, 23 yielded positive results for EWSR1-NR4A3, 10 for TAF15-NR4A3, and 1 for TCF12-NR4A3.\"'), ('508', 'TFG_NR4A3', 't(9;22)  / t(9;17)  / t(9;15)  / t(9;3)  / ', 'TFG', 'NR4A3', '24508382', '122', 'chondrosarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Less frequent fusion transcript variants of the NR4A3 gene, transcription factor 12 (TCF12)-NR4A3 and TRK-fused gene (TFG)-NR4A3, are associated with t(9;15) and t(9;3) respectively.     ///    \"The samples from 42 patients with extraskeletal myxoid chondrosarcoma were examined for the presence of EWSR1-NR4A3, TAF15-NR4A3, TCF12-NR4A3, and TFG-NR4A3 fusion transcripts by using RT-PCR. \"    ///    \"The samples from 42 patients with extraskeletal myxoid chondrosarcoma were examined for the presence of EWSR1-NR4A3, TAF15-NR4A3, TCF12-NR4A3, and TFG-NR4A3 fusion transcripts by using RT-PCR.\"'), ('509', 'MECT1_MAML2', 't(11,19)  /  / ', 'MECT1', 'MAML2', '24714697', '122', 'adenosquamous carcinoma', 'FISH ', '', '', '', '', '', '', '', 'The latter has been shown to harbor t(11,19) resulting in MECT1-MAML2 fusion, which may be of diagnostic and prognostic values.     ///    \"The latter has been shown to harbor t(11,19) resulting in MECT1-MAML2 fusion, which may be of diagnostic and prognostic values.\"    ///    \"We detected MAML2 rearrangement using fluorescence in situ hybridization (FISH) in tissue samples from 42 cases of PMEC and 40 of adenosquamous carcinoma (ASC), and the expression of potential downstream targets of MECT1-MAML2, including HES1, FLT1 and NR4A2 with immunohistochemistry (IHC). \"    ///    \"We detected MAML2 rearrangement using fluorescence in situ hybridization (FISH) in tissue samples from 42 cases of PMEC and 40 of adenosquamous carcinoma (ASC), and the expression of potential downstream targets of MECT1-MAML2, including HES1, FLT1 and NR4A2 with immunohistochemistry (IHC).\"');
INSERT INTO `ChimerPub_dump` VALUES ('510', 'SSX2_SS18', 'p11.2;q11.2 / ', 'SSX2', 'SS18', '22976541', '122', 'synovial sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'Over 90 % of SS cases are characterized by the t(X;18)(p11.2;q11.2) translocation, which results mainly in the formation of oncogenic SS18-SSX1 or SS18-SSX2 fusions.     ///    \"We detected SS18-SSX1 transcript in 22 (55 %) patients and SS18-SSX2 transcript in 17 (42.5 %) patients, while in one patient, none of SS18-SSX1/2 fusion transcripts were identified. \"    ///    \"Among the cases under study, two tumors carried novel SS18-SSX1 and SS18-SSX2 variant translocations that were allegedly created by an alternative splicing, and in additional case, an unusual translocation variant previously described by other group was found. \"'), ('511', 'DEK_CAN', 't(6;9)(p23;q34) / ', 'DEK', 'CAN', '15510206', '122', 'leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', ' The t(6;9)(p23;q34)-DEK/CAN fusion occurs with an incidence of 1-5% in adult patients with acute myelogenous leukemia (AML) and tends to have an unfavorable prognosis at diagnosis.     ///    Development of a D-FISH method to detect DEK/CAN fusion resulting from t(6;9)(p23;q34) in patients with acute myelogenous leukemia.. '), ('512', 'ETO_AML1', 't(15;17)  / ', 'ETO', 'AML1', '22213864', '122', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'MLL, PML-RARalpha, AML1-ETO fusion genes were detected by dual fusion- fluorescence in situ hybridization (D-FISH). '), ('513', 'MYH11_CBFB', 'inv(16)  / t(9;22)  / del(7)(q22q32) / inv(16) / t(9;22;19) / t(9;22;19)  / ', 'MYH11', 'CBFB', '20513535', '122', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Acute myeloid leukemia with inv(16) with CBFB-MYH11, 3\'CBFB deletion, variant t(9;22) with BCR-ABL1, and del(7)(q22q32) in a pediatric patient: case report and literature review.. '), ('514', 'RARA_PML', 'del(7q)  / ', 'RARA', 'PML', '15193435', '122', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia;hematologic malignancy\r\r', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The genetic changes with especially large discrepancy rates at diagnosis were del(7q) (20.0%), PML/RARA (17.6%), and trisomy 21 (12.5%) and, at follow-up, BCR/ABL (28.2%) and AML1/ETO (24.4%). '), ('515', 'BCR_ABL1', 'inv(16)  / t(9;22)  / del(7)(q22q32) / inv(16) / t(9;22;19) / t(9;22;19)  / ', 'BCR', 'ABL1', '20513535', '122', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Acute myeloid leukemia with inv(16) with CBFB-MYH11, 3\'CBFB deletion, variant t(9;22) with BCR-ABL1, and del(7)(q22q32) in a pediatric patient: case report and literature review.. '), ('516', 'MLT1_API2', 't(14;18)  / t(11;18)  / ', 'MLT1', 'API2', '16871031', '122', 'B cell lymphoma;lymphoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'These included trisomy for chromosomes 3, 7, 12, and 18 as well as t(14;18) IGH/BCL2, t(14;18) IGH/MLT1, and t(11;18) API2/MLT1 translocations.     ///    Complementary molecular search of IGH/BCL2 rearrangement using a polymerase chain reaction technique and of API2/MLT1 mRNA expression by reverse transcriptase-polymerase chain reaction were performed. '), ('517', 'SSX1_SS18', 'p11.2;q11.2 / ', 'SSX1', 'SS18', '22976541', '122', 'synovial sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', 'KB', '', 'Over 90 % of SS cases are characterized by the t(X;18)(p11.2;q11.2) translocation, which results mainly in the formation of oncogenic SS18-SSX1 or SS18-SSX2 fusions.     ///    \"We detected SS18-SSX1 transcript in 22 (55 %) patients and SS18-SSX2 transcript in 17 (42.5 %) patients, while in one patient, none of SS18-SSX1/2 fusion transcripts were identified. \"    ///    \"Among the cases under study, two tumors carried novel SS18-SSX1 and SS18-SSX2 variant translocations that were allegedly created by an alternative splicing, and in additional case, an unusual translocation variant previously described by other group was found. \"'), ('518', 'TCF12_NR4A3', 't(9;22)  / t(9;17)  / t(9;15)  / t(9;3)  / ', 'TCF12', 'NR4A3', '24508382', '122', 'chondrosarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Less frequent fusion transcript variants of the NR4A3 gene, transcription factor 12 (TCF12)-NR4A3 and TRK-fused gene (TFG)-NR4A3, are associated with t(9;15) and t(9;3) respectively.     ///    \"The samples from 42 patients with extraskeletal myxoid chondrosarcoma were examined for the presence of EWSR1-NR4A3, TAF15-NR4A3, TCF12-NR4A3, and TFG-NR4A3 fusion transcripts by using RT-PCR. \"    ///    \"Of the 34 samples evaluable for fusion transcripts, 23 yielded positive results for EWSR1-NR4A3, 10 for TAF15-NR4A3, and 1 for TCF12-NR4A3. \"'), ('519', 'ETO_AML1', 'del(7q)  / ', 'ETO', 'AML1', '15193435', '122', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia;hematologic malignancy\r\r', 'FISH ', '', '', '', '', '', '', '', 'The genetic changes with especially large discrepancy rates at diagnosis were del(7q) (20.0%), PML/RARA (17.6%), and trisomy 21 (12.5%) and, at follow-up, BCR/ABL (28.2%) and AML1/ETO (24.4%).     ///    The role of fluorescence in situ hybridization (FISH) for monitoring hematologic malignancies with BCR/ABL or ETO/AML1 rearrangement: a comparative study with FISH and G-banding on 919 consecutive specimens of hematologic malignancies..     ///    \"If this is not practical, then at a minimum FISH analysis should be done in follow-up for patients with genetic changes of BCR/ABL and AML1/ETO seen at diagnosis.. \"'), ('520', 'BCL2_IGH', 't(14;18)(q32;q21) / ', 'BCL2', 'IGH', '19159526', '122', 'MALT lymphoma;follicular lymphoma;B cell lymphoma;B cell lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'FISH with IgH / bcl-2 dual color dual fusion probe was used for detection of t(14;18)(q32;q21)/IgH-bcl-2. '), ('521', 'CDK5RAP2_PDGFRA', '', 'CDK5RAP2', 'PDGFRA', '16845659', '121', 'acute myeloid leukemia;myeloproliferative disorder;myeloid leukemia;leukemia\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Transient response to imatinib in a chronic eosinophilic leukemia associated with ins(9;4)(q33;q12q25) and a CDK5RAP2-PDGFRA fusion gene.     ///    Transient response to imatinib in a chronic eosinophilic leukemia associated with ins(9;4)(q33;q12q25) and a CDK5RAP2-PDGFRA fusion gene..     ///    \"The predicted CDK5RAP2-PDGFRA protein consists of 1,003 amino acids and retains both tyrosine kinase domains of PDGFRA and several potential dimerization domains of CDK5RAP2. \"    ///    \"Despite achieving complete cytogenetic and molecular remission on imatinib, the patient relapsed with imatinib-resistant acute myeloid leukemia that was characterized by a normal karyotype, absence of detectable CDK5RAP2-PDGFRA mRNA, and a newly acquired G12D NRAS mutation.. \"'), ('522', 'FGFR3_BAIAP2L1', '', 'FGFR3', 'BAIAP2L1', '25589496', '121', 'lung cancer;bladder cancer\r\r', 'FISH;PCR', 'Kinase', '', '', '', '', 'KB', '', 'To investigate the oncogenic potential of the fusion gene, we established an FGFR3-BAIAP2L1 transfectant with Rat-2 fibroblast cells (Rat-2_F3-B).     ///    We identified 4 patients with bladder cancer and 2 patients with lung cancer harboring the FGFR3-BAIAP2L1 fusion through PCR and FISH assay screens.     ///    \"Gene signature analysis revealed that FGFR3-BAIAP2L1 activates growth signals, such as the MAPK pathway, and inhibits tumor-suppressive signals, such as the p53, RB1, and CDKN2A pathways.\"    ///    \"Gene signature analysis revealed that FGFR3-BAIAP2L1 activates growth signals, such as the MAPK pathway, and inhibits tumor-suppressive signals, such as the p53, RB1, and CDKN2A pathways. \"    ///    \"We also established Rat-2_F3-B-??AR cells expressing an FGFR3-BAIAP2L1 variant lacking the Bin-Amphiphysin-Rvs (BAR) dimerization domain of BAIAP2L1, which exhibited decreased tumorigenic activity, FGFR3 phosphorylation, and F3-B-??AR dimerization, compared with Rat-2_F3-B cells. \"    ///    \"The FGFR3-BAIAP2L1 fusion had transforming activity in Rat2 cells, and Rat-2_F3-B cells were highly tumorigenic in mice. \"    ///    Mechanism of Oncogenic Signal Activation by the Novel Fusion Kinase FGFR3-BAIAP2L1.. '), ('523', 'BCR_ABL1', 't(9;22) / p24;q11.2 / ', 'BCR', 'ABL1', '16001431', '121', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Chronic myeloid leukemia (CML) is characterized by the presence of a t(9;22)(q34;q11.2), which leads to the well-known BCR-ABL1 fusion protein. '), ('524', 'PLAG1_HAS2', '', 'PLAG1', 'HAS2', '18798558', '121', 'lipoblastoma', 'FISH ', '', '', '', '', '', '', '', 'The correct diagnosis was made possible on cytogenetic grounds through the identification of the characteristic PLAG1-HAS2 fusion gene, thus allowing an appropriate clinical approach.. '), ('525', 'EML4_ALK', '', 'EML4', 'ALK', '23325296', '121', 'non small cell lung cancer;lung cancer\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'EML4-ALK fusion genes define a molecular subset of NSCLC with distinct clinical characteristic (lung adenocarcinoma, never or former smoker, usually mutually exclusive with EGFR mutations).    ///    \"EML4-ALK fusion genes define a molecular subset of NSCLC with distinct clinical characteristic (lung adenocarcinoma, never or former smoker, usually mutually exclusive with EGFR mutations). \"    ///    \"Crizotinib has been shown to yield important clinical benefit such as objective response rate, progression-free survival (PFS), and anticipated improvements in quality of life when used in pretreated patients with advanced NSCLC harboring EML4-ALK gene rearrangement. \"'), ('526', 'RUNX1_ETV6', 't(12;21)  / ', 'RUNX1', 'ETV6', '16157196', '121', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'It seems therefore that the prognostic value of the t(12;21) does not vary and that ETV6/RUNX1 rearrangement is an independent indicator of good prognosis..     ///    \"To determine the cytogenetic and molecular abnormalities associated with the ETV6/RUNX1 rearrangement and the influence of this rearrangement in patients\' evolution, we analyzed the molecular cytogenetic profiles of 56 children with this rearrangement and B-cell precursor acute lymphoblastic leukemia. \"    ///     The ETV6/RUNX1 rearrangement is found in 20-30% of children with B-cell precursor acute lymphoblastic leukemia and is associated with a good outcome. '), ('527', 'RARA_PML', 't(15;17)  / t(15;17)(q22;q21) / ', 'RARA', 'PML', '12885462', '121', 'acute myeloid leukemia;acute promyelocytic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Tetraploid acute promyelocytic leukemia with double t(15;17) and PML/RARA rearrangements detected by fluorescence in situ hybridization analysis..     ///    \"This report presents a unique case of APL with a tetraploid clone characterized by two t(15;17) without other chromosomal changes, as well as PML/RARA rearrangements confirmed fluorescence in situ hybridization. \"'), ('528', 'EML4_ALK', '', 'EML4', 'ALK', '23576200', '121', 'non small cell lung cancer;lung cancer\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Clinical data have been generated for crizotinib, a small molecule inhibitor of the ALK receptor tyrosine kinase, demonstrating a substantial improvement of objective response rate and prolonged progression-free survival (PFS) compared to standard chemotherapy in pretreated NSCLC patients harbouring EML4-ALK fusion genes. '), ('529', 'ATIC_ALK', 't(2;5)(p23;q35) / t(2;5)  / t(2;5) / t(2;19)(p23;p13) / inv(2)  / ', 'ATIC', 'ALK', '15080301', '121', 'anaplastic large cell lymphoma;lymphoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Among 6 variant gene rearrangements, 1 had TPM4-ALK/t(2;19)(p23;p13) and 2 had inv(2) with the breakpoint proximate to ATIC-ALK and an unknown partner gene separately. '), ('530', 'IRF4_DUSP22', '6p25.3 / ', 'IRF4', 'DUSP22', '22388754', '121', 'anaplastic large cell lymphoma;T cell lymphoma;lymphoma;lymphoproliferative disorder\r\r', 'FISH ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Two cases had rearrangements of the DUSP22-IRF4 locus on chromosome 6p25.3, seen most frequently in primary cutaneous anaplastic large cell lymphoma. '), ('531', 'EML4_ALK', '', 'EML4', 'ALK', '23669200', '121', 'non small cell lung cancer;lung cancer\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'RT-PCR revealed the expression of an EML4-ALK fusion gene variant 1. '), ('532', 'RUNX1_ETV6', 't(9;22) / t(1;19) / ', 'RUNX1', 'ETV6', '18838613', '121', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Patients with high hyperdiploidy, ETV6-RUNX1, or 11q23/MLL rearrangements had low rates of deletion (11%, 15%, 13%), whereas patients with t(9;22), t(1;19), TLX3, or TLX1 rearrangements had higher frequencies (61%, 42%, 78%, and 89%). '), ('533', 'EML4_ALK', '', 'EML4', 'ALK', '26704831', '121', 'prostate cancer', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'EML4-ALK fusion gene was not detected.     ///    The EML4-ALK fusion gene was not found in prostate cancer.. '), ('534', 'TEL_AML1', 't(9;22)  / t(1;19)  / t(8;14)  / t(8;22)  / del(6)  / ', 'TEL', 'AML1', '20357498', '121', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Recurring aberrations, observed in 123 (75%) patients, included hyperdiploidy (n=68, 41%), tetraploidy (n=12, 7.3%), hypodiploidy (n=2, 1.2%), TEL-AML1 fusion (n=11, 7%), mixed-lineage leukemia rearrangement (n=6, 3.6%), t(9;22) (n=4, 2.4%), t(1;19) (n=3, 1.8%), t(8;14) or t(8;22) (n=2, 1.2%), +21 (n=2, 1.2%), del(6) (n=2, 1.2%) and miscellaneous abnormalities (n=9, 5%). '), ('535', 'MLL_AF10', 't(10;11) / t(10;11)(p13;q14) / t(10;11)  / t(10;11)(p12-14;q13-21) / ', 'MLL', 'AF10', '9616163', '121', 'acute lymphoid leukemia;acute myeloid leukemia', 'FISH ', '', '', '', '', '', '', '', 'A recent study showed a MLL/AF10 fusion in all cases of AML with t(10;11) and various breakpoints on chromosome 11 ranging from q13 to q23. '), ('536', 'EML4_ALK', '', 'EML4', 'ALK', '23919423', '120', '', 'FISH;PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Ten percent (11/110) of patients harbored the EML4-ALK fusion gene, and the frequency of ALK rearrangement was higher than that of other cohort analyses involving patients from other regions in China.     ///    \"EGFR and KRAS mutations were examined by direct sequencing, the EML4-ALK fusion gene was analyzed by fluorescence in situ hybridization, and c-MET amplification and c-Met protein expression were detected by quantitative PCR and immunohistochemistry, respectively. \"    ///    \"Almost all of these gene mutations were exclusive except that in two female non-smoking patients, who harbored an EGFR mutation and EML4-ALK rearrangement simultaneously. \"    ///    \"We evaluated mutations in four driver genes, namely epidermal growth factor receptor (EGFR), Kirsten ras oncogene (KRAS), c-MET, and echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase (EML4-ALK), in Chinese lung adenocarcinoma patients from Hunan Province. \"    ///    \"Analysis of EGFR, EML4-ALK, KRAS, and c-MET mutations in Chinese lung adenocarcinoma patients.. \"'), ('537', 'HIP1_ALK', 't(2;7) / p23;q11.23 / ', 'HIP1', 'ALK', '24518094', '120', 'non small cell lung cancer;adenocarcinoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'The novel fusion gene and its protein HIP1-ALK harboring epsin N-terminal homology, coiled-coil, juxtamembrane, and kinase domains, which could play a role in carcinogenesis, could become diagnostic and therapeutic target of the lung adenocarcinoma and deserve a further study in the future..     ///    \"The novel fusion gene and its protein HIP1-ALK harboring epsin N-terminal homology, coiled-coil, juxtamembrane, and kinase domains, which could play a role in carcinogenesis, could become diagnostic and therapeutic target of the lung adenocarcinoma and deserve a further study in the future..\"    ///    \"HIP1-ALK, a novel fusion protein identified in lung adenocarcinoma.. \"'), ('538', 'TPM3_ALK', 'inv(2)(p23q35) / t(2;5)(p23;q35) / t(1;2)(q25;p23) / t(2;5)  / ', 'TPM3', 'ALK', '10702393', '120', 'non Hodgkin Lymphoma', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Recently, various cytogenetic, molecular, and protein studies have provided evidence for the existence of several types of variant ALK fusions in up to 20% of ALK+ ALCL, of which only one, a TPM3-ALK fusion resulting from a t(1;2)(q25;p23), has so far been cloned.     ///    \"Recently, various cytogenetic, molecular, and protein studies have provided evidence for the existence of several types of variant ALK fusions in up to 20% of ALK+ ALCL, of which only one, a TPM3-ALK fusion resulting from a t(1;2)(q25;p23), has so far been cloned.\"'), ('539', 'MLL_LARG', '', 'MLL', 'LARG', '16283618', '120', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'This patient also had the MLL-LARG fusion gene. '), ('540', 'NPM1_MLF1', 't(3;5)(q25;q35) / t(3;5)(q21-q25;q31-q35) / t(3;5)  / ', 'NPM1', 'MLF1', '25027285', '120', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', 'KB', '', 'Excluding three samples with a single abnormal t(3;5) metaphase, 15 of 17 (88%) patient samples with a balanced t(3;5) demonstrated NPM1/MLF1 fusion, and 0 of 6 patient samples with a der(5)t(3;5) demonstrated NPM1/MLF1 fusion, suggesting only the balanced form of this 3;5 translocation as observed by karyotype is associated with NPM1/MLF1 fusion.     ///    Development of an NPM1/MLF1 D-FISH probe set for the detection of t(3;5)(q25;q35) identified in patients with acute myeloid leukemia..     ///     The t(3;5)(q25;q35) NPM1/MLF1 fusion has an incidence of approximately 0.5% in acute myeloid leukemia (AML) and has an intermediate prognosis at diagnosis.     ///    The development of this sensitive D-FISH strategy for the detection of NPM1/MLF1 fusion adds to the AML FISH testing repertoire and is effective in the detection of this translocation at diagnosis as well as monitoring residual disease in AML patients.     ///    \"Overall, the FISH results demonstrated five different outcomes (NPM1/MLF1 fusion, MLF1 disruption, MLF1 duplication, NPM1 deletion, and normal), indicating significant molecular heterogeneity when the 3;5 translocation is identified. \"    ///    \"Once unblinded, the results indicate our D-FISH method identified NPM1/MLF1 fusion in 15 of the 26 fully evaluated patient samples. \"'), ('541', 'MLL_AFF1', 't(4;11) / ', 'MLL', 'AFF1', '22846743', '120', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', 'FISH ', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'In the group of patients with acute lymphoblastic leukemia and an identified MLL fusion partner, 47% showed the presence of an MLL-AFF1 fusion, as a result of a t(4;11). '), ('542', 'MLLT1_MLL', 't(4;11)(q21;q23) / t(6;11)(q27;q23) / t(9;11)(p22;q23) / t(11;19) / t(4;11) / t(6;11) / t(9;11) / 19p13.1 / 19p13.3 / ', 'MLLT1', 'MLL', '20539022', '120', 'leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'and t(11;19)(q23;p13.3), MLL/MLLT1.     ///    \"The findings demonstrated abnormal D-FISH results for 24 of 25 AFF1/MLL, 19 of 20 MLLT4/MLL, all 20 MLLT3/MLL, all 18 MLL/ELL, and all 20 MLL/MLLT1 samples, confirming the efficacy of these D-FISH assays in detecting these common MLL/partner translocations. \"'), ('543', 'IGH_CCND1', 't(11;14)  / t(11;14)(q13;q32) / t(11;14) / ', 'IGH', 'CCND1', '12742154', '120', 'mantle cell lymphoma;lymphoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Using CCND1/IGH-specific probes, patient UPN1 was found to have a masked t(11;14). '), ('544', 'RCSD1_ABL1', 't(1;9)(q23;q34) / 7p12.2 / t(1;9)(q24;q34) / ', 'RCSD1', 'ABL1', '26600955', '120', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', '', '', 'The RCSD1 gene is located at 1q23 and ABL1 is located at 9q34, so that the RCSD1-ABL1 fusion typically arises through a rare reciprocal translocation t(1;9)(q23;q34).     ///    \"We describe extensive genetic characterization of a case of B-ALL with RCSD1-ABL1 fusion, by using conventional cytogenetic analysis, Fluorescence In Situ Hybridization (FISH) studies, and Chromosomal Microarray Analysis (CMA). \"    ///    RCSD1-ABL1 Translocation Associated with IKZF1 Gene Deletion in B-Cell Acute Lymphoblastic Leukemia..     ///    \"Only a small number of RCSD1-ABL1 positive cases of B-ALL have been described in the literature, and the full spectrum of clinical, morphological, immunophenotypic, and molecular features associated with this genetic abnormality has not been defined. \"'), ('545', 'MLLT3_MLL', 't(4;11)(q21;q23) / t(6;11)(q27;q23) / t(9;11)(p22;q23) / t(11;19) / t(4;11) / t(6;11) / t(9;11) / 19p13.1 / 19p13.3 / ', 'MLLT3', 'MLL', '20539022', '120', 'leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', '', '', 'Seq', 't(9;11)(p22;q23), MLLT3/MLL.     ///    \"The findings demonstrated abnormal D-FISH results for 24 of 25 AFF1/MLL, 19 of 20 MLLT4/MLL, all 20 MLLT3/MLL, all 18 MLL/ELL, and all 20 MLL/MLLT1 samples, confirming the efficacy of these D-FISH assays in detecting these common MLL/partner translocations. \"'), ('546', 'DUX4_CIC', 't(4;19) / ', 'DUX4', 'CIC', '23887164', '120', 'sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Undifferentiated small round cell sarcoma with t(4;19)(q35;q13.1) CIC-DUX4 fusion: a novel highly aggressive soft tissue tumor with distinctive histopathology..     ///    \"Among these, a rare tumor harboring a t(4;19)(q35;q13.1) with CIC-DUX4 fusion has been described. \"    ///    All 4 tumors demonstrated CIC-DUX4 fusion transcript by both RT-PCR and FISH and CIC rearrangement by FISH.     ///    \"Four cases of CIC-DUX4 sarcoma, all arising in adults (3 women, 1 man, aged 20 to 43 y), were identified using conventional cytogenetic, reverse transcription polymerase chain reaction (RT-PCR) and fluorescence in situ hybridization (FISH) methods. \"    ///    CIC-DUX4 sarcoma represents a novel translocation-associated sarcoma with distinctive histopathologic features and rapid disease progression. '), ('547', 'MLL_ELL', 't(4;11)(q21;q23) / t(6;11)(q27;q23) / t(9;11)(p22;q23) / t(11;19) / t(4;11) / t(6;11) / t(9;11) / 19p13.1 / 19p13.3 / ', 'MLL', 'ELL', '20539022', '120', 'leukemia\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 't(11;19)(q23;p13.1), MLL/ELL.     ///    \"The findings demonstrated abnormal D-FISH results for 24 of 25 AFF1/MLL, 19 of 20 MLLT4/MLL, all 20 MLLT3/MLL, all 18 MLL/ELL, and all 20 MLL/MLLT1 samples, confirming the efficacy of these D-FISH assays in detecting these common MLL/partner translocations. \"'), ('548', 'EML4_ALK', '', 'EML4', 'ALK', '25839699', '120', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Detection of EML4-ALK fusion gene in Chinese non-small cell lung cancer by using a sensitive quantitative real-time reverse transcriptase PCR technique..     ///    \"We identified 18 cases (10.4%) with EML4-ALK fusion-positive by qRT-PCR, and all were positive for EML4-ALK fusion gene validated by direct sequencing. \"    ///    \"Furthermore, of the 18 EML4-ALK fusion-positive cases, 16 (9.2%) were positive by using EML4-ALK fusion probe FISH, and 15 (8.7%) were positive by using ALK break-apart probe FISH and immunohistochemistry staining. \"    ///    \"QRT-PCR is a rapid, sensitive technology that could be used as a screening tool for identifying EML4-ALK fusion-positive NSCLC patients who would be sensitive for receiving ALK inhibitor therapy. \"'), ('549', 'KCNMB4_CCND3', '', 'KCNMB4', 'CCND3', '25418192', '120', 'osteosarcoma', 'FISH;PCR;RT-PCR ', 'Kinase', '', '', '', '', '', '', 'Systematic analysis of genetic/genomic alterations and further functional studies have led to several important findings, including novel rearrangement hotspots, osteosarcoma-specific LRP1-SNRNP25 and KCNMB4-CCND3 fusion genes, VEGF and Wnt signaling pathway alterations, deletion of the WWOX gene, and amplification of the APEX1 and RUNX2 genes. '), ('550', 'FLI_EWS', 't(11;22)(q24;q21) / ', 'FLI', 'EWS', '16941013', '120', '', 'FISH ', '', '', '', '', '', '', '', 'Their histogenetic origin is still unsolved, but a recently reported EWS/FLI-1 translocation t(11;22)(q24;q21) and the consistent expression of CD56 and the progesterone receptor, both genes located on the long arm of chromosome 11, point to chromosome 11q as a potential locus of gene aberration in solid pseudopapillary neoplasms.     ///    \"Solid pseudopapillary neoplasms of the pancreas are associated with FLI-1 expression, but not with EWS/FLI-1 translocation.. \"    ///    It is concluded that FLI-1 expression in solid pseudopapillary neoplasms is not associated with an EWS/FLI-1 translocation. '), ('551', 'RARA_PML', 't(1;17)  / t(15;17)(q22;q21) / t(15;17)  / ', 'RARA', 'PML', '9266946', '120', '', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', ' Acute promyelocytic leukaemia (APL) is characterized by t(15;17)(q22;q21) which results in the formation of two chimaeric genes, PML/RAR alpha and RAR alpha/PML, thought to play a role in leukaemogenesis. '), ('552', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '23114151', '120', 'leukemia\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The results showed that among 76 cases the FIP1L1/PDGFRA (F/P) fusion gene was detected in 19 cases, the CHIC2 deletion was detected in 19 cases, the PDGFRA rearrangement was detected in 4 cases, and no FIP1L1 rearrangement was detected. '), ('553', 'MYH11_CBF', '22p13.1 / inv(16)(p13q22) / t(16;16)(p13q22) / ', 'MYH11', 'CBF', '10958941', '120', 'febrile neutropenia', 'FISH;PCR', '', '', '', '', '', '', '', 'This case demonstrates a previously unreported structural abnormality of chromosome 16 in a patient with AML M4, which represents a third mechanism to inv(16)(p13q22) and t(16;16)(p13q22) in producing the CBF beta-MYH11 fusion.     ///    \"A unique structural abnormality of chromosome 16 resulting in a CBF beta-MYH11 fusion transcript in a patient with acute myeloid leukemia, FAB M4.. \"    ///    CBF beta-MYH11 fusions masked by cryptic translocations at the cytogenetic level have been detected by FISH and PCR techniques.     ///    \"Due to the improved prognosis associated with CBF beta-MYH11 fusions compared to the standard risk group for AML, its detection remains important.. \"'), ('554', 'RARA_PML', 't(9;22)  / t(15;17) / ', 'RARA', 'PML', '19189637', '120', '', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Identification of parental chromosomes involved in translocations BCR-ABL, t(9;22) and PML-RARA, t(15;17)..     ///    \"In this mini-review, we present our observations from specimens with translocations BCR-ABL, t(9;22) and PML-RARA, t(15;17). \"    ///    In cases of translocation PML-RARA only 4 out of 21 (19.1%) specimens indicated an intragenomic involvement. '), ('555', 'MLLT4_MLL', 't(4;11)(q21;q23) / t(6;11)(q27;q23) / t(9;11)(p22;q23) / t(11;19) / t(4;11) / t(6;11) / t(9;11) / 19p13.1 / 19p13.3 / ', 'MLLT4', 'MLL', '20539022', '120', 'leukemia\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 't(6;11)(q27;q23), MLLT4/MLL.     ///    \"The findings demonstrated abnormal D-FISH results for 24 of 25 AFF1/MLL, 19 of 20 MLLT4/MLL, all 20 MLLT3/MLL, all 18 MLL/ELL, and all 20 MLL/MLLT1 samples, confirming the efficacy of these D-FISH assays in detecting these common MLL/partner translocations. \"'), ('556', 'MLL_HRX', 't(10;11)  / t(11;17)  / ', 'MLL', 'HRX', '8946209', '120', '', 'FISH;PCR', '', '', '', '', '', '', '', ' The genes AF10 and AF17 have been identified as the basis of the t(10;11) and t(11;17) translocations, events that result in their fusion to the MLL/HRX gene in acute myeloid leukaemias. '), ('557', 'SNRNP25_LRP1', '', 'SNRNP25', 'LRP1', '25418192', '120', 'osteosarcoma', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Systematic analysis of genetic/genomic alterations and further functional studies have led to several important findings, including novel rearrangement hotspots, osteosarcoma-specific LRP1-SNRNP25 and KCNMB4-CCND3 fusion genes, VEGF and Wnt signaling pathway alterations, deletion of the WWOX gene, and amplification of the APEX1 and RUNX2 genes. '), ('558', 'MYC_IGH', 't(8;14)(q24;q32) / t(8;22)(q24;q11) / t(8;14) / t(8;22) / ', 'MYC', 'IGH', '12653573', '120', 'chronic lymphocytic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Fluorescence in situ hybridization studies showed c-myc/IgH fusion signals in case 1, proving the presence of the t(8;14). '), ('559', 'RARA_PML', 't(15;17) / t(15;17)  / ', 'RARA', 'PML', '18328952', '120', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'A PML/RARA dual-fusion probe did not reveal the RARA-PML fusion signal on the der(17q), usually detected in the typical t(15;17).     ///    Reverse transcriptase-polymerase chain reaction confirmed the absence of the fusion RARA-PML transcript. '), ('560', 'RET_KIF5B', '', 'RET', 'KIF5B', '26268359', '119', 'adenocarcinoma\r\r', 'FISH;PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'KIF5B-RET Fusion gene may coincide oncogenic mutations of EGFR or KRAS gene in lung adenocarcinomas..     ///    We examined the KIF5B-RET fusion gene in frozen tissues from 154 surgically resected lung tumors using RT-PCR with direct sequencing and the mutation status of EGFR and KRAS genes using PNA clamping.     ///    The existence of KIF5B-RET fusion gene was identified in 9 patients.     ///    \"However, KIF5B-RET fusion gene coincided with EGFR or KRAS mutation in 6 patients. \"    ///    We tested KIF5B-RET translocation in Formalin Fixed Paraffin Embedded using fluorescence in situ hybridization.     ///    \" The KIF5B-RET rearrangement is detected with the frequency of 1??~??2% in \'triple marker\'-negative lung adenocarcinomas, i.e., EGFR, KRAS and EML4-ALK wild type. \"    ///    These six pts were also positive for both RET break-apart probes (23.9%) and KIF5B-RET fusion (44.4%).    ///    These six pts were also positive for both RET break-apart probes (23.9%) and KIF5B-RET fusion (44.4%). '), ('561', 'EML4_ALK', '', 'EML4', 'ALK', '25708242', '119', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The aim of this study is to better understand the clinical and molecular features of the EML4-ALK fusion gene in lung cancer patients in Taiwan and therefore to generate an efficient algorithm for the detection of ALK translocation.     ///    The echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase (EML4-ALK) fusion gene is an important biomarker for target therapy.    ///     The echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase (EML4-ALK) fusion gene is an important biomarker for target therapy. '), ('562', 'EML4_ALK', '', 'EML4', 'ALK', '19737969', '119', 'colorectal cancer', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase (EML4-ALK) fusion gene has been identified as an oncogene in a subset of non-small cell lung cancers (NSCLC).     ///    \"EML4-ALK translocation was also confirmed by fluorescence in situ hybridization assay, which revealed its substantial heterogeneity in both primary tumors and tumor-derived cell lines. \"    ///    This approach led to the detection of EML4-ALK fusion in breast and colorectal carcinomas in addition to NSCLC.    ///    \"To elucidate the functional significance of EML4-ALK, we examined the growth of cell lines harboring the fusion following EML4 and ALK silencing by small interfering RNA. \"    ///    Besides previously known EML4-ALK variants 1 (E13.     ///    \"Collectively, these findings show the recurrence of EML4-ALK fusion in multiple solid tumors and further substantiate its role in tumorigenesis.. \"    ///    \"Exon array profiling detects EML4-ALK fusion in breast, colorectal, and non-small cell lung cancers.. \"    ///    \"Screening of a large collection of patient tumor samples showed the presence of EML4-ALK fusion in 2.4% of breast (5 of 209), 2.4% of colorectal (2 of 83), and in 11.3% of NSCLC (12 of 106). \"'), ('563', 'HLXB9_ETV6', 't(7;12)(q36;p13) / t(7;12)  / t(7;12) / ', 'HLXB9', 'ETV6', '16646086', '119', 'leukemia\r\r', 'FISH', '', '', '', '', '', '', '', 'However, the HLXB9 expression was highly increased in t(7;12)-positive cases, including those with an HLXB9-ETV6 fusion. '), ('564', 'RARA_PML', 't(11;13)(q23;q14) / t(8;21)(q22;q22) / t(9;22)(q34;q11) / t(15;17)(q22;q11) / inv(16) (p13q22) / ', 'RARA', 'PML', '15041229', '119', 'acute myeloid leukemia', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Reverse transcriptase polymerase chain reaction showed no concomitant positivity of AML1/ETO, BCR/ABL, PML/RARA, and CBFbeta/MYH11 resulting from t(8;21)(q22;q22), t(9;22)(q34;q11), t(15;17)(q22;q11), and inv(16) (p13q22), respectively. '), ('565', 'PTPRZ1_NFAM1', '', 'PTPRZ1', 'NFAM1', '26892443', '119', 'melanoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'In addition, two tumors each contained a second fusion gene, ARID1B-SNX9 or PTPRZ1-NFAM1. '), ('566', 'SNX9_ARID1B', '', 'SNX9', 'ARID1B', '26892443', '119', 'melanoma\r\r', 'FISH ', '', '', 'Tumor_suppressor', '', '', '', '', 'In addition, two tumors each contained a second fusion gene, ARID1B-SNX9 or PTPRZ1-NFAM1. '), ('567', 'EVI1_ABL1', 'inv(3)(q21q26) / t(3;3)(q21;q26) / inv(3)(p24q26) / t(3;21)(q26;q11) / t(3;7)(q26;q21) / ', 'EVI1', 'ABL1', '22887804', '119', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', '', '', 'This was similar to median %EVI1/ABL1 of 73.9 (range: 7.3-585.6) in an independent cohort of inv(3)(q21q26)/t(3;3)(q21;q26) and 67.1 (2.3-410.7) in other 3q26/EVI1 rearrangements.     ///    \"Elevated EVI1 expression was detected in nearly all cases with cryptic EVI1 rearrangements: Median %EVI1/ABL1 was 92.8 (range: 29.8-146.1) in inv(3)(p24q26), 104.9 (41.4-176.3) in t(3;21)(q26;q11), and 101.8 (4.4-210.4) in der(7)t(3;7)(q26;q21). \"'), ('568', 'P21_P13', 't(3;8) / p21.2;q24.3 / p21.2;q24.1 / 3p21.2 / ', 'P21', 'P13', '12599195', '119', 'gingival fibromatosis\r\r', 'FISH ', '', '', '', '', '', '', '', 'We report an apparently balanced chromosomal aberration, 46,XX, t(3;8)(p13-p21.2;q24.1-q24.3), in a family with an affected mother and daughter. '), ('569', 'ETO_AML1', 't(11;13)(q23;q14) / t(8;21)(q22;q22) / t(9;22)(q34;q11) / t(15;17)(q22;q11) / inv(16) (p13q22) / ', 'ETO', 'AML1', '15041229', '119', 'acute myeloid leukemia', 'FISH ', '', '', '', '', '', '', '', 'Reverse transcriptase polymerase chain reaction showed no concomitant positivity of AML1/ETO, BCR/ABL, PML/RARA, and CBFbeta/MYH11 resulting from t(8;21)(q22;q22), t(9;22)(q34;q11), t(15;17)(q22;q11), and inv(16) (p13q22), respectively. '), ('570', 'TEX28_MECP2', '', 'TEX28', 'MECP2', '22883432', '119', '', 'FISH;PCR ', '', '', '', '', 'Transcription_Factor', '', '', 'The duplicated segment involved all four exons of MECP2, but excluded almost the entire 3\' untranslated region (UTR), and the genomic rearrangement resulted in a MECP2-TEX28 fusion gene mRNA transcript. '), ('571', 'EWS_ATF', 't(12;22)(q13;q12) / ', 'EWS', 'ATF', '10398127', '119', 'clear cell sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Further characterization of the human clear cell sarcoma cell line HS-MM demonstrating a specific t(12;22)(q13;q12) translocation and hybrid EWS/ATF-1 transcript..     ///    The translocation between chromosomes 12 and 22 was confirmed by FISH analysis and the hybrid EWS/ATF-1 transcript induced by this translocation was detected by RT-PCR. '), ('572', 'SLC44A1_PRKCA', 't(9;17)(q31;q24) / ', 'SLC44A1', 'PRKCA', '22725730', '119', '', 'FISH;PCR;RT-PCR ', 'Kinase', '', '', '', '', '', '', 'These results suggest that the t(9;17)(q31;q24) with the resultant novel fusion oncogene SLC44A1-PRKCA is the defining molecular feature of PGNT that may be responsible for its pathogenesis.     ///    Reverse transcription-polymerase chain reaction (RT-PCR) analysis using a forward primer from SLC44A1 exon 5 and a reverse primer from PRKCA exon 10 confirmed the presence of a SLC44A1-PRKCA fusion product in both tumors.     ///    \"Identification of a novel, recurrent SLC44A1-PRKCA fusion in papillary glioneuronal tumor.. \"'), ('573', 'MOZ_CBP', 't(8;16)(p11;p13) / t(8;16)  / t(8;16) / ', 'MOZ', 'CBP', '10862050', '119', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', '', 'In the only t(8;16) that has been described at the sequence level using RT-PCR, the CBP-MOZ fusion was found to be out-of-frame, suggesting that the reciprocal MOZ-CBP transcript is the essential one for leukemogenesis.     ///    We have developed an RT-PCR strategy that enables us to detect the MOZ-CBP as well as the CBP-MOZ fusions in the two AML M5 with t(8;16)(p11;p13) analyzed.     ///    \"Previously published studies of MOZ and CBP rearrangements in t(8;16)-positive AML have used fluorescence in situ hybridization and Southern blot methodologies, whereas attempts to amplify and to analyze further the chimeric MOZ-CBP and CBP-MOZ transcripts by means of reverse transcriptase-polymerase chain reaction (RT-PCR) have largely been unsuccessful. \"    ///    RT-PCR analysis of the MOZ-CBP and CBP-MOZ chimeric transcripts in acute myeloid leukemias with t(8;16)(p11;p13)..     ///    \"Direct sequence analysis showed that nt 283 of CBP was fused in-frame with nt 3,746 of MOZ, that the initiation ATG codon of the CBP gene remained intact, and that there was no mutation or deletion in the part of the CBP gene included in the CBP-MOZ transcript. \"    ///    \"Thus, the data we present are not informative with regard to the question whether it is the MOZ-CBP or the CBP-MOZ transcript that is leukemogenic. \"    ///    Nested PCR with a combination of two forward CBP and two reverse MOZ primers amplified CBP-MOZ chimeric transcripts in both cases. '), ('574', 'TEL_AML1', 't(9;22)(q34;q11) / t(12;21)(p13;q22) / t(4;11)(q21;q23) / t(1;19)(q23;p13) / del (12p)  / ', 'TEL', 'AML1', '12617866', '119', '', 'FISH ', '', '', '', '', '', '', '', 'Among structural chromosomal abnormalities, the t(9;22)(q34;q11) resulting in the BCR/ABL fusion protein, and rearrangements of the MLL gene, confer a poor prognosis in both children and adults, while t(12;21)(p13;q22), resulting in the TEL/AML1 fusion protein, and del (12p) confer a good prognosis. '), ('575', 'SEPT11_MLL', 't(4;11)(q21;q23) / ', 'SEPT11', 'MLL', '20633769', '119', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'This MLL-SEPT11 fusion is cytogenetically indistinguishable from the recurrent t(4;11)(q21;q23).     ///    This report expands the spectrum of ALL-related translocations and hypothesizes on the mechanism leading to the MLL-SEPT11 fusion.     ///    \"Reverse transcriptase-polymerase chain reaction revealed expression of a chimeric MLL-SEPT11 transcript, thus identifying what is to our knowledge a hitherto undescribed translocation in ALL. \"'), ('576', 'RUNX1T1_RUNX1', 't(1;21;8)(q21;q22;q22) / t(8;21)(q22;q22) / t(8;21)  / t(8;21) / ', 'RUNX1T1', 'RUNX1', '21325813', '119', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Acute myeloid leukemia with a RUNX1-RUNX1T1 t(1;21;8)(q21;q22;q22) novel variant: a case report and review of the literature..     ///    \"Cytogenetic analysis revealed a karyotype of 46,XX,t(1;21;8)(q21;q22;q22), and fluorescence in situ hybridization confirmed a RUNX1-RUNX1T1 fusion signal on the derivative chromosome 8. \"'), ('577', 'CLTC_ALK', 'inv(2)(p23q12) / del(2) / 1p11.2 / t(2;17)(p23;q23) / ', 'CLTC', 'ALK', '17656252', '118', '', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'In addition, we identified the ALK fusion partner in a previously reported IMT with t(2;17)(p23;q23) as CLTC, a gene reported to be involved in four other IMTs, and showed that the breakpoint involved a novel ALK-CLTC fusion. '), ('578', 'TFE3_PSF', '', 'TFE3', 'PSF', '26274027', '118', 'perivascular epithelioid cell tumors;renal cancer', 'FISH ', '', '', '', '', '', '', '', 'PSF-TFE3 fusion genes were confirmed by reverse transcription polymerase chain reaction in cases (7/7) in which a novel PSF-TFE3 fusion point was identified.     ///    \"Furthermore, we developed a PSF-TFE3 fusion fluorescence in situ hybridization assay for the detection of the PSF-TFE3 fusion gene and detected it in all 12 cases. \"'), ('579', 'REL_BCL11A', '2p16.1 / 9p24.1 / 16p13.13 / ', 'REL', 'BCL11A', '21822207', '117', 'composite lymphoma;Hodgkin lymphoma;mediastinal disease', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Gains including amplifications in 2p16.1 (REL/BCL11A locus) were observed in 33% of all patients, whereas alterations affecting the JAK2/PDL2 locus in 9p24.1 were present in 55%. '), ('580', 'PDL2_JAK2', '2p16.1 / 9p24.1 / 16p13.13 / ', 'PDL2', 'JAK2', '21822207', '117', 'composite lymphoma;Hodgkin lymphoma;mediastinal disease', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'Gains including amplifications in 2p16.1 (REL/BCL11A locus) were observed in 33% of all patients, whereas alterations affecting the JAK2/PDL2 locus in 9p24.1 were present in 55%. '), ('581', 'MALT1_API2', 't(11;18)(q21;q21) / t(11;18) / ', 'MALT1', 'API2', '23305046', '117', 'lymphoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'pylori status, and assessing t(11;18)/API2-MALT1 would be considered after failure to remission by H.     ///    The frequency of t(11;18)/API2-MALT1 did not differ between H. '), ('582', 'PAX3_MAML3', 't(2;4) / inv(2)(q35p23) / ', 'PAX3', 'MAML3', '26371783', '117', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', 'Seq', 'Most BSNSs harbor a pathognomonic PAX3-MAML3 fusion driven by t(2;4)(q35;q31.1), whereas the alternative fusion partner gene remains unidentified in a subset of PAX3-rearranged cases.     ///    \"Five additional BSNS cases with typical morphology were studied by FISH, revealing a PAX3-MAML3 fusion in 4 cases and only PAX3 rearrangement in the remaining case without abnormalities in MAML3 or NCOA1 gene. \"    ///    \"Interestingly, the 2 PAX3-NCOA1-positive cases showed desmin reactivity and displayed a small component of rhabdomyoblastic cells, which were not seen in the more common PAX3-MAML3 fusion cases. \"'), ('583', 'PCM1_JAK2', 't(8;9)(p21;p24) / del(6)(q24) / t(8;9) / ', 'PCM1', 'JAK2', '16769584', '117', '', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'RT-PCR confirmed a PCM1-JAK2 fusion underlying the t(8;9). '), ('584', 'EWSR1_ATF1', '', 'EWSR1', 'ATF1', '18094413', '116', 'clear cell sarcoma;fibrous histiocytoma;sarcoma;histiocytoma\r\r', 'FISH;PCR', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'EWSR1-CREB1 and EWSR1-ATF1 fusion genes in angiomatoid fibrous histiocytoma..     ///    \"EWSR1-ATF1 also represents the most frequent genetic alteration in clear cell sarcoma, suggesting the existence of a molecular homology between these two histotypes. \"    ///    \"We investigated the presence of EWSR1-CREB1, recently found in gastrointestinal clear cell sarcoma, and FUS-CREB1, as well as the already reported FUS-ATF1 and EWSR1-ATF1 in a series of AFH. \"    ///    \"We identified the presence of either EWSR1-CREB1 or EWSR1-ATF1 in all the cases, strengthening the concept of chromosomal promiscuity between AFH and clear cell sarcoma. \"    ///    \"Either FUS-ATF1 or EWSR1-ATF1 have been detected in the few cases published, pointing to the interchangeable role of FUS and EWSR1 in this entity. \"'), ('585', 'EML4_ALK', '', 'EML4', 'ALK', '24792336', '116', 'non small cell lung cancer;lung cancer\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In one case of 96 EML4-ALK fusion gene and EGFR mutation were detected.     ///    TaqMan based real time PCR assay targeting EML4-ALK fusion transcripts in NSCLC..     ///    \"Using variant specific real time PCR we identified EML4-ALK transcript in 17/46 (37%) specimens, using end-point PCR in 13/46 (28%) specimens and positive ALK rearrangement by FISH was detected in 8/46 (17.4%) specimens. \"    ///    This assay was used to analyze the EML4-ALK gene in 96 non-selected NSCLC specimens and compared with two other methods (end-point PCR and break-apart FISH).     ///    \"EML4-ALK was detected in 33/96 (34%) specimens using variant specific real time PCR, whereas in only 23/96 (24%) using end-point PCR.\"    ///    \"In this context, an effective method for EML4-ALK detection is necessary.\"    ///    \"EML4-ALK was detected in 33/96 (34%) specimens using variant specific real time PCR, whereas in only 23/96 (24%) using end-point PCR. \"    ///    \"In this context, an effective method for EML4-ALK detection is necessary. \"'), ('586', 'CRTC1_MAML2', 't(11;19)(q21;p13) / / ', 'CRTC1', 'MAML2', '25782731', '116', 'mucoepidermoid carcinoma;thymic carcinoma', 'FISH ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'The recently described fusions, t(11;19)(q21;p13) CREB (cAMP response element-binding protein)-regulated transcription coactivator 1 and MAML2, mastermind-like gene 2 (CRTC1-MAML2) and t(11:15)(q21;q26) CRTC3-MAML2 characterize a considerable proportion of MEC examples arising from a variety of anatomical sites.    ///    \"The recently described fusions, t(11;19)(q21;p13) CREB (cAMP response element-binding protein)-regulated transcription coactivator 1 and MAML2, mastermind-like gene 2 (CRTC1-MAML2) and t(11:15)(q21;q26) CRTC3-MAML2 characterize a considerable proportion of MEC examples arising from a variety of anatomical sites. \"'), ('587', 'EML4_ALK', '', 'EML4', 'ALK', '25238939', '116', 'lung cancer;adenocarcinoma\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Moreover, RT-PCR using formalin-fixed, paraffin-embedded tissue from the right lung cancer also demonstrated EML4-ALK variant 1 fusion gene.    ///    Recurrence of lung adenocarcinoma after an interval of 15 years revealed by demonstration of the same type of EML4-ALK fusion gene..     ///    \"Moreover, RT-PCR using formalin-fixed, paraffin-embedded tissue from the right lung cancer also demonstrated EML4-ALK variant 1 fusion gene. \"    ///    \"Although there is a possibility that the left lung cancer is de novo one with multiple metastases, detection of the same fusion gene of the very rare EML4-ALK variant 1 in both tumors suggests that the left cancer is a recurrence of the right lung cancer after an interval of 15 years. \"    ///    \"Using the BAL specimen from the left lower lung, EML4 (echinoderm microtubule-associated protein-like 4)-ALK variant 1 fusion gene was detected by reverse transcription-polymerase chain reaction (RT-PCR). \"'), ('588', 'EWSR1_CREB1', '', 'EWSR1', 'CREB1', '18094413', '116', 'clear cell sarcoma;fibrous histiocytoma;sarcoma;histiocytoma\r\r', 'FISH;PCR', '', '', '', '', 'Transcription_Factor', 'KB', '', 'EWSR1-CREB1 and EWSR1-ATF1 fusion genes in angiomatoid fibrous histiocytoma..     ///    Reverse transcription-PCR showed EWSR1-CREB1 transcript in the case analyzed.     ///    \"We investigated the presence of EWSR1-CREB1, recently found in gastrointestinal clear cell sarcoma, and FUS-CREB1, as well as the already reported FUS-ATF1 and EWSR1-ATF1 in a series of AFH. \"    ///    \"We identified the presence of either EWSR1-CREB1 or EWSR1-ATF1 in all the cases, strengthening the concept of chromosomal promiscuity between AFH and clear cell sarcoma. \"    ///    \"We investigated the presence of EWSR1-CREB1, recently found in gastrointestinal clear cell sarcoma, and FUS-CREB1, as well as the already reported FUS-ATF1 and EWSR1-ATF1 in a series of AFH.\"'), ('589', 'EML4_ALK', '', 'EML4', 'ALK', '25170107', '116', 'malignant pleural effusion;pleural effusion', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'A new human lung adenocarcinoma cell line harboring the EML4-ALK fusion gene..     ///    \"To the best of our knowledge, there are only three cell lines harboring the EML4-ALK fusion gene, which have contributed to the development of therapeutic strategies. \"    ///    We successfully established a new lung adenocarcinoma cell line harboring the EML4-ALK fusion gene.     ///    \"Because the EML4-ALK rearrangement was found in a biopsied specimen using fluorescence in situ hybridization, she was treated with crizotinib.\"    ///    \"Because the EML4-ALK rearrangement was found in a biopsied specimen using fluorescence in situ hybridization, she was treated with crizotinib. \"    ///    \"Therefore, we tried to establish a new lung cancer cell line harboring EML4-ALK. \"    ///    \"The EML4-ALK fusion protein and genes were identified in ABC-11 cells using fluorescence in situ hybridization and immunohistochemistry, respectively. \"'), ('590', 'EML4_ALK', '', 'EML4', 'ALK', '25601488', '116', 'non small cell lung cancer;lung cancer\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'However, a detailed RT-PCR analysis and sequencing revealed an unexpected 138 bp insertion of attractin-like 1 (ATRNL1) gene into the EML4-ALK fusion gene.    ///    \"However, a detailed RT-PCR analysis and sequencing revealed an unexpected 138 bp insertion of attractin-like 1 (ATRNL1) gene into the EML4-ALK fusion gene. \"    ///    Identification of atypical ATRNL1 insertion to EML4-ALK fusion gene in NSCLC..     ///    \"No EGFR mutations were detected, and therefore the ALK rearrangement was evaluated using immunohistochemistry (IHC), fluorescence in situ hybridization (FISH) and the reverse transcription PCR (RT-PCR) method for EML4-ALK. \"    ///    \"This case shows great EML4-ALK heterogeneity and also that basic detection methods (IHC, FISH) cannot fully specify ALK rearrangement but in many cases a full specification seems to be important for an effective TKI indication, and sequencing ALK variants might contribute to optimized patient selection.. \"    ///    \"In our case, the positive therapeutic response suggests that ATRNL1 insertion does not affect EML4-ALK\'s sensitivity to crizotinib.\"    ///     We herein present a rare case of an EML4-ALK positive patient.     ///    \"In our case, the positive therapeutic response suggests that ATRNL1 insertion does not affect EML4-ALK\'s sensitivity to crizotinib. \"'), ('591', 'EML4_ALK', '', 'EML4', 'ALK', '23625156', '116', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The echinoderm microtubule-associated protein-like 4 anaplastic lymphoma kinase (EML4-ALK) fusion gene has been identified as a potent oncogenic driver in non-small-cell lung cancer, in particular adenocarcinoma (ADC).     ///    \"Two cases with positive ALK protein expression, but negative for breakapart FISH signal were shown to harbor EML4-ALK variant 1 by RT-PCR. \"    ///    Detection of ALK rearrangement by immunohistochemistry in lung adenocarcinoma and the identification of a novel EML4-ALK variant..     ///    \"In addition, we identified a novel EML4-ALK fusion variant (E3:ins53A20), and its potent transformation potential has been confirmed by in vivo tumorigenicity assay. \"'), ('592', 'CALM_AF10', 't(10;11)(p13-14;q14-21) / t(10;11)  / ', 'CALM', 'AF10', '12676784', '116', 'T cell leukemia', 'FISH ', '', '', '', '', '', '', '', 'Twelve (9%) of 131 unselected T-cell acute lymphoid leukemias (T-ALLs) expressed CALM-AF10 by reverse transcription-polymerase chain reaction or fluorescence in situ hybridization (or both), including 8% of children and 10% of adults, of whom only half demonstrated a t(10;11) by classical cytogenetics.     ///     The t(10;11)(p13-14;q14-21) associated with CALM-AF10 is considered to be rare and associated with a variety of acute lymphoid and myeloid leukemias.     ///    CALM-AF10 is a common fusion transcript in T-ALL and is specific to the TCRgammadelta lineage..     ///    \"Nine of 12 immature CALM-AF10 T-ALLs demonstrated 3\' fusion transcripts, whereas 6 of 7 TCRgammadelta T-ALLs demonstrated 5\' fusion transcripts. \"    ///    \"CALM-AF10 was not found in T-cell-receptor alphabeta (TCRalphabeta) lineage T-ALLs, as defined by expression of TCRalphabeta, cytoplasmic TCRbeta, or TCRbetaVDJ rearrangement in immature cytoplasmic TCRbeta- cases, compared with 19% of TCRgammadelta T-ALLs and 33% of immature delta/gamma T-ALLs. \"    ///    CALM-AF10 is therefore the most common fusion protein in T-ALL. '), ('593', 'EWSR1_ATF1', '', 'EWSR1', 'ATF1', '25359601', '116', 'mucoepidermoid carcinoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Recently, the EWSR1-ATF1 fusion gene was found in HCCCs.     ///    Hyalinizing clear cell carcinoma with EWSR1-ATF1 fusion gene: report of three cases with molecular analyses..     ///    We found EWSR1-ATF1 in two of three HCCCs using reverse transcription polymerase chain reaction (RT-PCR) with our original primer sets designed to detect the fusion gene transcripts in formalin-fixed paraffin-embedded (FFPE) tissues. '), ('594', 'RET_CCDC6', '', 'RET', 'CCDC6', '24504365', '116', 'large cell carcinoma;squamous cell carcinoma', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Of the 22 patients, 19 possessed KIF5B-RET fusion genes, whereas 3 possessed CCDC6-RET fusion genes. '), ('595', 'NUP98_DDX10', 'inv(11)(p15q22) / inv(11) / ', 'NUP98', 'DDX10', '23522748', '116', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', 'Seq', 'DCDF-FISH detected the NUP98-DDX10 rearrangement as two fusion signals, at the short and the long arms of the inv(11).     ///    \"Reverse transcription-polymerase chain reaction (RT-PCR) and cloning experiments confirmed the NUP98-DDX10 fusion and identified two splicing fusion isoforms: the known \"\"type II fusion,\"\" originating from the fusion of NUP98 exon 14 to DDX10 exon 7 and a new in-frame fusion transcript between NUP98 exon 15 and DDX10 exon 7, which we termed \"\"type III fusion.\"\". \"    ///    Inv(11)(p15q22)/NUP98-DDX10 fusion and isoforms in a new case of de novo acute myeloid leukemia.. '), ('596', 'MAML2_CRTC3', 't(11;19)(q21;p13) / ', 'MAML2', 'CRTC3', '25782731', '116', 'mucoepidermoid carcinoma;thymic carcinoma', 'FISH ', '', '', '', '', 'Transcription_Factor', '', '', 'The recently described fusions, t(11;19)(q21;p13) CREB (cAMP response element-binding protein)-regulated transcription coactivator 1 and MAML2, mastermind-like gene 2 (CRTC1-MAML2) and t(11:15)(q21;q26) CRTC3-MAML2 characterize a considerable proportion of MEC examples arising from a variety of anatomical sites. '), ('597', 'BCR_ABL1', '', 'BCR', 'ABL1', '24779036', '116', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Involvement of primary mesenchymal precursors and hematopoietic bone marrow cells from chronic myeloid leukemia patients by BCR-ABL1 fusion gene..     ///    \"Here, we have investigated by interphase fluorescence in situ hybridization (iFISH) the distribution of BCR-ABL1 fusion gene in FACS-sorted bone marrow (BM) populations of mesenchymal precursor cells (MPC) and other hematopoietic cell populations from 18 newly diagnosed CML patients. \"    ///    \"In summary, here we confirm the presence at diagnosis of the BCR-ABL1 fusion gene inMPC, CD341 precursors, and other different BM hematopoietic myeloid cell lineages from CML patients,including also in a significant fraction of cases, a smaller percentage of T, B, and NK lymphocytes.Interestingly, involvement of MPC was restricted to the ancestral BCR-ABL11 subclone.. \"    ///    \"However, it remains to be determined whether BCR-ABL1 gene rearrangement occurs in a HPC or at an earlier stem cell and whether the degree of involvement of hematopoiesis by the BCR-ABL1 fusion gene relates to the response to therapy. \"'), ('598', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '24195515', '116', 'prostate cancer\r\r', 'FISH', '', '', '', '', '', 'KB', 'Seq', 'We demonstrated a statistically significant positive correlation between the percentage of cells with fusion gene TMPRSS2-ERG in CaP and metastatic potential of tumors (p=0.011).     ///    \"The aim of this study was to analyse expression of AR, TOP2B and ERG in relation to TMPRSS2-ERG gene rearrangement and relevant clinicopathological characteristics in prostate cancer (CaP). \"'), ('599', 'RARA_PML', 't(15;17)  / t(8;21)  / inv(16)  / ', 'RARA', 'PML', '19959801', '116', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Karyotype and array technology represent genome-wide screens, whereas the other methods target specific prognostic features such as t(15;17) PML-RARA, t(8;21) RUNX1-RUNX1T1, inv(16) CBFB-MYH11, 11q23 MLL rearrangement, FLT3 internal tandem duplication, or NPM1 mutation. '), ('600', 'MYH11_CBFB', 't(15;17)  / t(8;21)  / inv(16)  / ', 'MYH11', 'CBFB', '19959801', '116', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Karyotype and array technology represent genome-wide screens, whereas the other methods target specific prognostic features such as t(15;17) PML-RARA, t(8;21) RUNX1-RUNX1T1, inv(16) CBFB-MYH11, 11q23 MLL rearrangement, FLT3 internal tandem duplication, or NPM1 mutation. '), ('601', 'RET_KIF5B', '', 'RET', 'KIF5B', '24504365', '116', 'large cell carcinoma;squamous cell carcinoma', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', '', '', 'Of the 22 patients, 19 possessed KIF5B-RET fusion genes, whereas 3 possessed CCDC6-RET fusion genes. '), ('602', 'RUNX1T1_RUNX1', 't(15;17)  / t(8;21)  / inv(16)  / ', 'RUNX1T1', 'RUNX1', '19959801', '116', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Karyotype and array technology represent genome-wide screens, whereas the other methods target specific prognostic features such as t(15;17) PML-RARA, t(8;21) RUNX1-RUNX1T1, inv(16) CBFB-MYH11, 11q23 MLL rearrangement, FLT3 internal tandem duplication, or NPM1 mutation. '), ('603', 'CALM_AF10', 'del(17)(q12) / del(5)(q35) / del(7)(q34) / del(9)(q34) / del(12)(p13) / del(14)(q11) / ', 'CALM', 'AF10', '20065082', '116', 'leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'CDKN2A-B/9p21 and GRIK2/6q16 deletions, TCR and TLX3 rearrangements, SIL-TAL1, CALM-AF10, MLL-translocations, del(17)(q12)/NF1 and other cryptic genomic imbalances, i.e. '), ('604', 'TAL1_SIL', 'del(17)(q12) / del(5)(q35) / del(7)(q34) / del(9)(q34) / del(12)(p13) / del(14)(q11) / ', 'TAL1', 'SIL', '20065082', '116', 'leukemia\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', '', '', 'CDKN2A-B/9p21 and GRIK2/6q16 deletions, TCR and TLX3 rearrangements, SIL-TAL1, CALM-AF10, MLL-translocations, del(17)(q12)/NF1 and other cryptic genomic imbalances, i.e. '), ('605', 'CD10_BCL6', 't(14;18)  / ', 'CD10', 'BCL6', '16733216', '115', 'B cell lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', '', '', '', 'Coexpression of CD10/Bcl6 (germinal center-like immunophenotype) was found in 13%, t(14;18) translocations in 17.9%, and MGMT methylation in 75.9% of cases.     ///    \"To investigate prevalence and interrelationship of recently suggested molecular prognostic markers in Middle East DLBCL, we analyzed coexpression of CD10/Bcl6 (by immunohistochemistry), t(14;18) translocations (by fluorescence in situ hybridization), and methylation of the gene encoding the DNA repair enzyme O(6)-methylguanine DNA methyltransferase (MGMT) in a series of 190 DLBCL patients from Saudi Arabia with clinical follow-up data. \"    ///    t(14;18) was significantly associated with CD10/Bcl6 coexpression (46.7%) but infrequent in CD10-/Bcl6-negative lymphomas (9.4%.     ///    There was a trend toward better prognosis (although statistically insignificant) in tumors with coexpression of CD10/Bcl6. '), ('606', 'IGH_CCND1', 't(4;14) / t(11;14)  / t(11;14) / t(4;14)  / ', 'IGH', 'CCND1', '17460451', '115', 'plasma cell myeloma', 'FISH ', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In this study, the prognostic significance of morphology, CyclinD1 expression, proliferation index (Mib1) and presence of the translocations FGFR3/IgH [t(4;14)] and CCND1/IgH [t(11;14)] are compared in 119 patients with PM. '), ('607', 'IGH_FGFR3', 't(4;14) / t(11;14)  / t(11;14) / t(4;14)  / ', 'IGH', 'FGFR3', '17460451', '115', 'plasma cell myeloma', 'FISH ', 'Kinase', '', '', '', '', '', '', 'In this study, the prognostic significance of morphology, CyclinD1 expression, proliferation index (Mib1) and presence of the translocations FGFR3/IgH [t(4;14)] and CCND1/IgH [t(11;14)] are compared in 119 patients with PM. '), ('608', 'TEL_AML1', 't(12;21)(p13;q22) / del(6q)  / t(12;21)  / ', 'TEL', 'AML1', '8697420', '115', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Subsequent molecular evaluation of the patient\'s leukemic cells with the t(12;21) demonstrated a TEL/AML1 fusion protein.. '), ('609', 'P13_P11', '19p13.2 / ', 'P13', 'P11', '7698746', '115', 'leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'The human NOTCH1, 2, and 3 genes are located at chromosome positions 9q34, 1p13-p11, and 19p13.2-p13.1 in regions of neoplasia-associated translocation..     ///    \"These clones were used as probes in fluorescence in situ hybridization to human metaphase chromosomes, and the results, combined with data from somatic cell hybrid panels, show that the NOTCH2 and 3 genes are located at positions 1p13-p11 and 19p13.2-p13.1, respectively, which are regions of neoplasia-associated translocation.. \"'), ('610', 'MPD_FGFR1', 't(8;22)  / t(8;22) (p12;q11) / ', 'MPD', 'FGFR1', '15870860', '115', 'myeloproliferative disorder;chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', 'Kinase', '', '', '', '', '', '', 'In contrast to the other FGFR1-MPDs that show myeloid and T cell proliferation, we propose that this t(8;22) MPD is a myeloid and B cell disease, and potentially a novel type of hematological disease.     ///    \"Although the FGFR1-MPD is rare, its study provides interesting clues to the understanding of hematopoietic stem cell biology and oncogene activation.. \"'), ('611', 'RAD50_PDLIM4', '', 'RAD50', 'PDLIM4', '26628996', '115', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', '', '', 'Four high-frequency prostate cancer (CaP) specific fusion genes, SDK1:AMACR, RAD50:PDLIM4, CTAGE5:KHDRBS3 and USP9Y:TTTY15 have been reported in Chinese CaP samples through a transcriptome sequencing study.     ///    \"We detected SDK1:AMACR fusion transcript in 23 of 100 Chinese CaP samples, but did not detect RAD50:PDLIM4 and CTAGE5:KHDRBS3 transcripts in any of those samples. \"'), ('612', 'BCR_ABL1', 't(9;22)(q34;q11) / t(9;22)  / ', 'BCR', 'ABL1', '12759926', '115', 'hematologic malignancy', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Chronic myeloid leukemia (CML) is a biphasic hematopoietic malignancy associated with a single cytogenetic aberration, the Philadelphia translocation t(9;22)(q34;q11), resulting in the BCR-ABL1 fusion oncogene.     ///    Amplifications of BCR-ABL1 were also detected and quantified in four CML cell lines by use of MAPH probes specific for ABL1 exon 11 and BCR exon 1. '), ('613', 'SDK1_AMACR', '', 'SDK1', 'AMACR', '26628996', '115', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', '', '', 'Four high-frequency prostate cancer (CaP) specific fusion genes, SDK1:AMACR, RAD50:PDLIM4, CTAGE5:KHDRBS3 and USP9Y:TTTY15 have been reported in Chinese CaP samples through a transcriptome sequencing study.     ///    \"We previously reported that USP9Y:TTTY15 is a transcription-mediated chimeric RNA, which is expressed in both tumor and non-malignant samples, and here we attempted to confirm the existence of the other three fusion genes SDK1:AMACR, RAD50:PDLIM and CTAGE5:KHDRBS3. \"    ///    High frequency of the SDK1:AMACR fusion transcript in Chinese prostate cancer..     ///    \"SDK1:AMACR fusion transcript is Chinese CaP specific, which was neither detected in non-malignant prostate tissues adjacent to cancer from Chinese patient nor in CaP samples from UK patients. \"    ///    \"We detected SDK1:AMACR fusion transcript in 23 of 100 Chinese CaP samples, but did not detect RAD50:PDLIM4 and CTAGE5:KHDRBS3 transcripts in any of those samples. \"    ///    \"The identification of the SDK1:AMACR fusion transcript in CaP cases from China but not from UK further supports our previous observation that different genetic alterations contribute to CaP in China and Western countries, although many genetic changes are also shared. \"    ///    \"Quantitative analysis demonstrated that high level AMACR expression was associated with SDK1:AMACR fusion status (P=0.004), suggesting that SDK1:AMACR fusion transcript may promote prostate carcinogenesis through increasing AMACR expression. \"    ///    Further studies are required to establish if CaPs with SDK1:AMACR represent a distinct subtype.     ///    \"However, we did not detect genomic rearrangement of SDK1 gene by fluorescence in situ hybridization analysis, indicating that SDK1:AMACR is also a transcription-mediated chimeric RNA. \"');
