INSERT INTO `ChimerPub_dump` VALUES ('614', 'PTPRB_PTGES3', '', 'PTPRB', 'PTGES3', '25176350', '114', 'sarcoma\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', '', 'RNA-Seq of the primary tumor identified four fusion genes, PTGES3-PTPRB, HMGA2-DYRK2, TMBIM4-MSRB3 and USP15-CNTN1, in which all the partner genes map to the q arm of chromosome 12.     ///    \"Because MDM2 amplification and the fusion transcripts PTGES3-PTPRB, HMGA2-DYRK2 and TMBIM4-MSRB3 were found both in the primary tumor and in the metastasis, they are components of the same clone and may be involved both in initiation and progression of the tumor. \"    ///    \"In material from the metastasis, RT-PCR detected the PTGES3-PTPRB, HMGA2-DYRK2 and TMBIM4-MSRB3 whereas no USP15-CNTN1 fusion transcript was found. \"'), ('615', 'HLF_E2A', 't(1;19)(q23;p13) / t(17;19)(q22;p13) / inv(19)(p13;q13) / t(1;19) / t(1;19)  / ', 'HLF', 'E2A', '11243406', '114', 'leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', '', '', '', ' Three rearrangements in ALL disrupt E2A and create E2A fusion proteins: the t(1;19)(q23;p13) and E2A-PBX1, t(17;19)(q22;p13) and E2A-HLF and a cryptic inv(19)(p13;q13) and E2A-FB1. '), ('616', 'EML4_ALK', '', 'EML4', 'ALK', '24722159', '114', 'squamous cell carcinoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'ALK/EML4 fusion gene may be found in pure squamous carcinoma of the lung.. '), ('617', 'HMGA2_DYRK2', '', 'HMGA2', 'DYRK2', '25176350', '114', 'sarcoma\r\r', 'FISH;PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'RNA-Seq of the primary tumor identified four fusion genes, PTGES3-PTPRB, HMGA2-DYRK2, TMBIM4-MSRB3 and USP15-CNTN1, in which all the partner genes map to the q arm of chromosome 12.     ///    \"Because MDM2 amplification and the fusion transcripts PTGES3-PTPRB, HMGA2-DYRK2 and TMBIM4-MSRB3 were found both in the primary tumor and in the metastasis, they are components of the same clone and may be involved both in initiation and progression of the tumor. \"    ///    \"In material from the metastasis, RT-PCR detected the PTGES3-PTPRB, HMGA2-DYRK2 and TMBIM4-MSRB3 whereas no USP15-CNTN1 fusion transcript was found. \"'), ('618', 'SYT_SSX', '', 'SYT', 'SSX', '21434526', '114', 'sarcomatoid renal cell carcinoma', 'FISH ', '', '', '', '', '', '', '', 'The correct diagnosis of synovial sarcoma requires support by an immunohistochemical panel as well as adjunctive investigations like polymerase chain reaction and fluorescence in situ hybridization to determine the presence of the SYT-SSX fusion gene and translocation (X,18), respectively.. '), ('619', 'FB1_E2A', 't(1;19)(q23;p13) / t(17;19)(q22;p13) / inv(19)(p13;q13) / t(1;19) / t(1;19)  / ', 'FB1', 'E2A', '11243406', '114', 'leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', ' Three rearrangements in ALL disrupt E2A and create E2A fusion proteins: the t(1;19)(q23;p13) and E2A-PBX1, t(17;19)(q22;p13) and E2A-HLF and a cryptic inv(19)(p13;q13) and E2A-FB1. '), ('620', 'NTRK3_ETV6', '', 'NTRK3', 'ETV6', '23955668', '114', 'acinic cell carcinoma\r\r', 'FISH;PCR;RT-PCR', 'Kinase', '', '', '', '', 'KB', 'Seq', ' Mammary analogue secretory carcinoma (MASC) is a recently described malignancy of the salivary glands characterized by an ETV6-NTRK3 (EN) fusion gene. '), ('621', 'RARA_PML', 'del(9)(q22) / t(15;17)  / t(15;17) / t(8;21) / ', 'RARA', 'PML', '10484977', '113', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'FISH with cosmid DNA probes flanking the breakpoints of t(15;17) did not show the retinoic acid receptor alpha (RAR alpha)/PML fusion signal usually generated on the der(17) t(15;17). '), ('622', 'PAX7_FKHR', 't(2;13) / t(1;13) / t(2;13)  / ', 'PAX7', 'FKHR', '20470941', '113', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Only one case (3%) was positive to t(1;13)/PAX7-FKHR and nine cases (30%) were fusion-negative. '), ('623', 'PAX3_FKHR', 't(2;13)(q35;q14) / t(2;13)  / t(2;13) / ', 'PAX3', 'FKHR', '7536457', '113', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Detection of the t(2;13)(q35;q14) and PAX3-FKHR fusion in alveolar rhabdomyosarcoma by fluorescence in situ hybridization..     ///    The PAX3-FKHR FISH assay was then applied to a series of cytogenetically characterized pediatric sarcoma cell lines. '), ('624', 'PVT1_NBEA', 't(8;13)(q24;q13) / t(16;22) / ', 'PVT1', 'NBEA', '22869583', '113', 'multiple myeloma\r\r', 'FISH', '', '', '', '', '', '', '', 'Two novel chimeric genes were identified: PVT1-NBEA in the AMU-MM1 cell line harboring t(8;13)(q24;q13) and PVT1-WWOX in RPMI8226 cell line harboring der(16)t(16;22)ins(16;8)(q23;q24).     ///    Frequent PVT1 rearrangement and novel chimeric genes PVT1-NBEA and PVT1-WWOX occur in multiple myeloma with 8q24 abnormality..     ///    \"The PVT1-NBEA chimera in which PVT1 exon 1 was fused to NBEA exon 2 and the PVT1-WWOX in which PVT1 exon 1 was fused to WWOX exon 9 were associated with the expression of abnormal NBEA and WWOX lacking their N-terminus, respectively. \"'), ('625', 'MUM1_IRF4', 't(14;18) / ', 'MUM1', 'IRF4', '21487109', '113', 'follicular lymphoma;B cell lymphoma;lymphoma\r\r', 'FISH', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Those were predominantly GCB-type DLBCL or follicular lymphoma grade 3, shared strong expression of IRF4/MUM1 and BCL6, and lacked PRDM1/BLIMP1 expression and t(14;18)/BCL2 breaks. '), ('626', 'TEC_EWS', 't(9;22)(q22;q12) / ', 'TEC', 'EWS', '18925568', '113', 'chondrosarcoma;sarcoma\r\r', 'FISH ', 'Kinase', '', '', '', '', '', '', 'Spectrum of cytomorphological features, including literature review, of an extraskeletal myxoid chondrosarcoma with t(9;22)(q22;q12) (TEC/EWS) results in one case.. '), ('627', 'WWOX_PVT1', 't(8;13)(q24;q13) / t(16;22) / ', 'WWOX', 'PVT1', '22869583', '113', 'multiple myeloma\r\r', 'FISH', '', '', '', '', 'Transcription_Factor', '', '', 'Two novel chimeric genes were identified: PVT1-NBEA in the AMU-MM1 cell line harboring t(8;13)(q24;q13) and PVT1-WWOX in RPMI8226 cell line harboring der(16)t(16;22)ins(16;8)(q23;q24).     ///    Frequent PVT1 rearrangement and novel chimeric genes PVT1-NBEA and PVT1-WWOX occur in multiple myeloma with 8q24 abnormality..     ///    \"The PVT1-NBEA chimera in which PVT1 exon 1 was fused to NBEA exon 2 and the PVT1-WWOX in which PVT1 exon 1 was fused to WWOX exon 9 were associated with the expression of abnormal NBEA and WWOX lacking their N-terminus, respectively. \"'), ('628', 'LPP_HMGA2', 't(3;12) / ', 'LPP', 'HMGA2', '12505264', '112', '', 'FISH;PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Herein, we have addressed this question by RT-PCR analyses of the HMGA2-LPP fusion resulting from t(3;12)(q27 approximately q28;q14 approximately q15) in a series of 61 pulmonary chondroid hamartomas (PCH) with an apparently normal karyotype.     ///    \"Herein, we have addressed this question by RT-PCR analyses of the HMGA2-LPP fusion resulting from t(3;12)(q27 approximately q28;q14 approximately q15) in a series of 61 pulmonary chondroid hamartomas (PCH) with an apparently normal karyotype.\"    ///    Expression of the HMGA2-LPP fusion transcript in only 1 of 61 karyotypically normal pulmonary chondroid hamartomas..     ///    \"As a result, the HMGA2-LPP fusion transcript was amplified in only one of 61 PCH with a normal karyotype. \"    ///    The absence of the HMGA2-LPP fusion in small populations of tumors with a normal karyotype suggests the primary nature of chromosomal rearrangements in the development of PCH affected by those aberrations.. '), ('629', 'EML4_ALK', 'inv(2)(p21p23) / ', 'EML4', 'ALK', '18927303', '112', 'non small cell lung cancer;lung cancer\r\r', 'FISH;PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' EML4-ALK is a fusion-type protein tyrosine kinase that is generated by inv(2)(p21p23) in the genome of non-small cell lung cancer (NSCLC).     ///    \"To allow sensitive detection of EML4-ALK fusion transcripts, we have now developed a multiplex reverse transcription-PCR (RT-PCR) system that captures all in-frame fusions between the two genes. \"    ///    Multiplex reverse transcription-PCR screening for EML4-ALK fusion transcripts..     ///    \"The novel isoforms of EML4-ALK manifested marked oncogenic activity, and they yielded a pattern of cytoplasmic staining with fine granular foci in immunohistochemical analysis of NSCLC specimens. \"    ///    \"The novel isoforms of EML4-ALK manifested marked oncogenic activity, and they yielded a pattern of cytoplasmic staining with fine granular foci in immunohistochemical analysis of NSCLC specimens.\"'), ('630', 'FLI_EWS', 't(11;22)(q24;q12) / ', 'FLI', 'EWS', '10574242', '112', 'esthesioneuroblastoma', 'FISH ', '', '', '', '', '', '', '', 'Neither EWS/FLI-I, EWS/ERG and EWS/FEV fusion genes nor MIC2 expression were found in any tumour, whereas trisomy 8 was found in one case only. '), ('631', 'FEV_EWS', 't(11;22)(q24;q12) / ', 'FEV', 'EWS', '10574242', '112', 'esthesioneuroblastoma', 'FISH ', '', '', '', '', '', '', '', 'Neither EWS/FLI-I, EWS/ERG and EWS/FEV fusion genes nor MIC2 expression were found in any tumour, whereas trisomy 8 was found in one case only. '), ('632', 'USP42_RUNX1', 't(7;21)  / t(7;21)(p22;q22) / t(7;21) / ', 'USP42', 'RUNX1', '20064152', '112', 'myelodysplastic syndrome\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', 'Transcription_Factor', '', 'Seq', 'Thus, our studies have identified t(7;21)(p22;q22) as a rare but recurrent abnormality in MDS/AML, with the existence of alternative spliced forms of the RUNX1-USP42 transcript in different patients.     ///    Molecular analysis of 100 MDS and AML marrow specimens by RT-PCR did not reveal new cases with the RUNX1-USP42 fusion. '), ('633', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '25338592', '112', '', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The fusion gene of FIP1L1-PDGFRA (F/P) was found in 2 patients and the positive rate of F/P fusion gene detected by probe 4q12 was 17% in the 12 patients with eosinophilia. '), ('634', 'EWS_ERG', 't(11;22)(q24;q12) / ', 'EWS', 'ERG', '10574242', '112', 'esthesioneuroblastoma', 'FISH ', '', '', '', '', '', '', '', 'Neither EWS/FLI-I, EWS/ERG and EWS/FEV fusion genes nor MIC2 expression were found in any tumour, whereas trisomy 8 was found in one case only. '), ('635', 'EWSR1_DDIT3', '', 'EWSR1', 'DDIT3', '25693574', '111', 'epithelioid sarcoma', 'FISH ', '', '', '', '', 'Transcription_Factor', 'KB', '', '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.    ///    \"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. \"'), ('636', 'POU5F1_EWSR1', '', 'POU5F1', 'EWSR1', '25693574', '111', '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. '), ('637', 'NR4A3_EWSR1', '', 'NR4A3', 'EWSR1', '25693574', '111', 'epithelioid sarcoma', 'FISH ', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', '', '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. '), ('638', 'ETO_AML1', 't(3;21)  / t(3;21) / t(8;21)(q22;q22) / t(8;21) / t(8;21)  / ', 'ETO', 'AML1', '8490181', '111', 'acute myeloid leukemia;chronic myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'The AML1 gene is transcribed from telomere to centromere, and in the t(8;21) the 5\' part of AML1 is fused to the ETO gene on chromosome 8 to produce the chimeric AML1/ETO on the der(8) chromosome. '), ('639', 'MOZ_CBP', 't(8;16)(p11;p13) / t(8;16) / t(8;16)  / ', 'MOZ', 'CBP', '12461753', '111', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR ', '', '', '', '', '', '', '', 'Genomic characterization of MOZ/CBP and CBP/MOZ chimeras in acute myeloid leukemia suggests the involvement of a damage-repair mechanism in the origin of the t(8;16)(p11;p13)..     ///    Long-range-PCR with CBP forward primers in exon 2 and MOZ reverse primers in exon 17 as well as with a MOZ forward primer in exon 16 and a CBP reverse primer in intron 2 successfully amplified CBP/MOZ and MOZ/CBP hybrid genomic DNA fragments in all four AMLs.     ///    \"The breaks clustered in both CBP intron 2 and MOZ intron 16, and were close to repetitive elements, and in one case an Alu-Alu junction for the CBP/MOZ hybrid was identified. \"'), ('640', 'EWSR1_ATF1', '', 'EWSR1', 'ATF1', '25693574', '111', 'epithelioid sarcoma', 'FISH ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', '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. '), ('641', 'SET_NUP214', '', 'SET', 'NUP214', '20682390', '111', 'acute myeloid leukemia;myeloid leukemia;leukemia;hematologic malignancy\r\r', 'FISH ', '', '', '', '', '', 'KB', '', 'The SET-NUP214 fusion gene has been rarely reported in acute myeloid leukemia, acute undifferentiated leukemia, and recurrently in T-cell acute lymphoblastic leukemia.     ///    Molecular characterization of alternative SET-NUP214 fusion transcripts in a case of acute undifferentiated leukemia..     ///    \"Herein we present a novel case of acute undifferentiated leukemia with SET-NUP214 rearrangement due to the cryptic deletion of the 9q34 region producing two different types of fusion transcripts by alternative splicing and molecular characterization of the fusion transcripts by fluorescence in situ hybridization, reverse transcriptase-polymerase chain reaction, and array comparative genomic hybridization analyses.. \"'), ('642', 'PAX5_KIAA1549L', '', 'PAX5', 'KIAA1549L', '26157485', '111', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'PAX5-KIAA1549L: a novel fusion gene in a case of pediatric B-cell precursor acute lymphoblastic leukemia..     ///    Employing fluorescence in situ hybridization and molecular methods PAX5-KIAA1549L was identified as novel fusion gene in a case of pediatric BCP-ALL. '), ('643', 'EWSR1_CREB1', '', 'EWSR1', 'CREB1', '22588066', '111', 'fibrous histiocytoma;histiocytoma\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', 'KB', '', 'We describe 2 cases arising endobronchially harboring EWSR1 gene rearrangements by fluorescence in situ hybridization and, respectively, EWSR1-CREB1 and EWSR1-ATF1 gene fusions by reverse transcription polymerase chain reaction.     ///    Endobronchial pulmonary angiomatoid fibrous histiocytoma: two cases with EWSR1-CREB1 and EWSR1-ATF1 fusions.. '), ('644', 'EWSR1_ATF1', '', 'EWSR1', 'ATF1', '22588066', '111', 'fibrous histiocytoma;histiocytoma\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'We describe 2 cases arising endobronchially harboring EWSR1 gene rearrangements by fluorescence in situ hybridization and, respectively, EWSR1-CREB1 and EWSR1-ATF1 gene fusions by reverse transcription polymerase chain reaction.     ///    Endobronchial pulmonary angiomatoid fibrous histiocytoma: two cases with EWSR1-CREB1 and EWSR1-ATF1 fusions.. '), ('645', 'BCR_ABL1', '', 'BCR', 'ABL1', '19589926', '110', 'myeloid leukemia;acute lymphoblastic leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The BCR-ABL1 fusion gene defines the subgroup of acute lymphoblastic leukemia (ALL) with the worst clinical prognosis. '), ('646', 'ETV6_AML1', 't(12;15)(p13;q15) / t(12;15) / ', 'ETV6', 'AML1', '10959089', '110', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH', '', '', '', '', '', '', '', 'A child with ALL and ETV6/AML1 fusion on a chromosome 12 due to an insertion of AML1 and loss of ETV6 from the homolog involved in a t(12;15)(p13;q15)..     ///    FISH investigation using a TEL(ETV6)/AML1 probe detected a fusion signal in 98% of the interphase cells. '), ('647', 'RB1_E2F3', '6p22.3 / ', 'RB1', 'E2F3', '24459064', '110', 'urinary bladder cancer', 'FISH ', '', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'We suggest that 5637 and HT1376 represent the E2F3/RB1 pathway due to amplification of 6p22.3, concomitant with loss of one copy of RB1 and mutation of the remaining copy. '), ('648', 'IGH_CCND1', 't(11;14) / t(11;14)  / ', 'IGH', 'CCND1', '25876789', '110', 'B cell lymphoma;lymphoma\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'FISH analysis revealed t(11;14)(CCND1/IGH). '), ('649', 'TEL_AML1', 't(12;21) / t(12;21)  / ', 'TEL', 'AML1', '16424874', '110', '', 'FISH', '', '', '', '', '', '', '', ' Clinical heterogeneity within t(12;21) or TEL/AML1-positive ALL (25% of childhood common/preB ALL) indicates that additional genetic changes might contribute to outcome. '), ('650', 'EWSR1_ETV4', 't(17;22)(q21;q12) / ', 'EWSR1', 'ETV4', '22429598', '110', 'ewing sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', 'Seq', ' Cytogenetic analysis of a lumbar soft tissue Ewing sarcoma (ES) in a 7-month-old female child showed a t(17;22)(q21;q12), a rare translocation leading to an EWSR1-ETV4 chimeric transcript. '), ('651', 'TEL_AML1', 't(9;22)(q34;q11) / ', 'TEL', 'AML1', '20030914', '110', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH', '', '', '', '', '', '', '', 'The incidences of abnormal karyotypes, total hypodiploidy, total hyperdiploidy (47 - 50), t(9;22)(q34;q11), -7, abn(7q), abn(14q32) and +Ph in aALL were significantly higher than those of cALL (p < 0.05), whereas the incidences of normal karyotype (N), high hyperdiploidy, +8, +21*2 and TEL/AML1(+) in cALL were significantly higher than those of aALL (p < 0.05).     ///    \"The percentage of abnormal karyotypes in cALL was 39.2%, composed mainly of high hyperdiploidy, hypodiploidy, TEL/AML1(+), +8, hyperdiploidy (47 - 50) and +21, etc, most of which conferring a favorable prognosis. \"'), ('652', 'ETO_AML1', '5p15.2 / inv(16) / t(11q23)  / ', 'ETO', 'AML1', '12872151', '110', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'AML1/ETO, BCR/ABL, PML/RAR, c-MYC, TP53, RB1, 5q31/5p15.2, 5q33-34, 7q31/CEP7, 20q13. '), ('653', 'BCR_ABL1', '', 'BCR', 'ABL1', '19544476', '110', 'myeloproliferative disorder;chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Chronic myeloid leukemia (CML) is a myeloproliferative disorder characterized by a triphasic clinical course, the morphologic expansion of a terminally differentiated myeloid cell and the presence of the BCR-ABL1 fusion gene, the hallmark of CML.     ///    \"Conventional cytogenetic, fluorescence in situ hybridization, and molecular testing for the BCR-ABL1 fusion gene are key investigations for the diagnosis and monitoring of CML. \"    ///    \"The fusion gene is usually, but not always, associated with a Philadelphia chromosome, the result of a reciprocal exchange of genetic material between chromosome 22 and chromosome 9, which leads to the production of the activated BCR-ABL1 gene and oncoprotein. \"    ///    Technical aspects and clinical applications of measuring BCR-ABL1 transcripts number in chronic myeloid leukemia.. '), ('654', 'CDKN2B_CDKN2A', '9p21.3 / 12p13.2 / 7p12.2 / ', 'CDKN2B', 'CDKN2A', '21900200', '110', '', 'FISH', 'Kinase', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Complete or partial chromosomal losses largely outnumbered the gains, with common deleted regions involving 9p21.3 (CDKN2A/CDKN2B), 13q13.1-q14.3 (RB1), 12p13.2-p13.1 (CDKN1B), 13q11-q12 (LATS2), and 7p12.2 (IKZF1) regions.     ///    CDKN2A/CDKN2B deletion was confirmed by FISH.     ///    \"We suggest that, in the absence of reliable parameters for predicting prognosis in BPDCN other than age, tumor stage, and/or clinical presentation, simple methods, such as FISH for CDKN2A/CDKN2B, could help to identify the most aggressive cases.. \"'), ('655', 'SAMD9L_SAMD9', 'del (7q)  / del(7q) / ', 'SAMD9L', 'SAMD9', '25543507', '110', '', 'FISH', '', '', '', '', '', '', '', 'Genes (EZH2, MLL5, DOCK4, SAMD9L/SAMD9) located in commonly deleted segments of 7q have been cloned and characterized along with the advance of molecular biology.This review summaries the current advancement about myeloid malignancies associated with monosomy7/del(7q). '), ('656', 'P13_P11', '5p13.3 / 5p15.1 / ', 'P13', 'P11', '7762592', '110', '', 'FISH ', '', '', '', '', '', '', '', 'Reviews of dup (5p) and of our patient suggest that duplication of 5p13.3-pter has only minor phenotypic effect, while duplication of the relatively small critical segment p11-p13.2 apparently causes far more deleterious changes. '), ('657', 'TEL_AML1', 't(12;21)  / del(6q) / ', 'TEL', 'AML1', '15356655', '110', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'The 12p aberrations (P=0.001) and near tetraploidy (P=0.045) were more common in TEL/AML1+ patients, whereas the incidence of diploidy, pseudodiploidy, hypodiploidy, low hyperdiploidy, near triploidy, del(6q), chromosome 9 and 11q23 abnormalities was similar among TEL/AML1+ and TEL/AML1- patients.     ///    We concluded that the type and incidence of the most common secondary aberrations in TEL/AML1+ ALL can be conveniently identified with little additional effort during interphase screening with appropriate TEL and AML1 FISH probes. '), ('658', 'P13_P12', 'del (11)(p12-p13) / ', 'P13', 'P12', '9859552', '110', 'aniridia\r\r', 'FISH ', '', '', '', '', '', '', '', 'The karyotype was 46, XY, del (11)(p12-p13).     ///    Chromosomal analysis revealed deletion of p12-p13 bands. '), ('659', 'TLX3_BCL11B', 't(9;22)  / del (9q)(q13q22) / t(5;14)(q35;32) / ', 'TLX3', 'BCL11B', '21225930', '110', 'leukemia\r\r', 'FISH', '', '', '', '', '', '', '', 'Herein, we report a pediatric case of bilineal T/myeloid acute leukemia associated with del (9q)(q13q22) and TLX3/BCL11B fusion due to the cryptic t(5;14)(q35;32).     ///    \"FISH studies confirmed the TLX3/BCL11B fusion in both the myeloid and lymphoid blasts, while the 9q deletion was restricted to the lymphoid component. \"    ///    Successful treatment of a child with T/myeloid acute bilineal leukemia associated with TLX3/BCL11B fusion and 9q deletion.. '), ('660', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '18181181', '109', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'We have retrospectively analyzed the blood and bone marrow of a child who presented with aplastic anemia 9 months before the development of ETV6-RUNX1 fusion gene positive ALL.     ///    \"Retrospective analysis of aplastic phase bone marrow showed that the ETV6-RUNX1 fusion was present along with all of the additional genetic changes assessed, albeit subclonal to ETV6-RUNX1. \"'), ('661', 'NCOA2_HEY1', '', 'NCOA2', 'HEY1', '23252872', '109', 'mesenchymal chondrosarcoma', 'FISH ', '', '', '', '', 'Transcription_Factor', '', '', 'A tumor specific fusion gene, HEY1-NCOA2 fusion, was recently identified in this tumor.     ///    \"In accordance with results of a previous study, FISH analysis was highly sensitive in detecting HEY1-NCOA2 fusion in adequately prepared MC samples.\"    ///    \"In the present study, we aimed to evaluate the efficacy of fluorescence in situ hybridization (FISH) in detecting HEY1-NCOA2 fusion for the diagnosis of MC. \"    ///    \"In accordance with results of a previous study, FISH analysis was highly sensitive in detecting HEY1-NCOA2 fusion in adequately prepared MC samples. \"    ///    Detection of HEY1-NCOA2 fusion by fluorescence in-situ hybridization in formalin-fixed paraffin-embedded tissues as a possible diagnostic tool for mesenchymal chondrosarcoma.    ///    Detection of HEY1-NCOA2 fusion by fluorescence in-situ hybridization in formalin-fixed paraffin-embedded tissues as a possible diagnostic tool for mesenchymal chondrosarcoma..     ///    The current study adds further support for the use of HEY1-NCOA2 fusion as a valid diagnostic marker for MC.. '), ('662', 'TEL_AML1', '', 'TEL', 'AML1', '22781718', '109', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Among these 55 ALL cases TEL/AML1, bcr-abl and MLL fusion genes were observed in 16 (29.1%), 3(5.5%) and 2(3.6%) cases, respectively. '), ('663', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '14973504', '109', 'hypereosinophilic syndrome,', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Detection of the FIP1L1-PDGFRA fusion gene or the corresponding cryptic 4q12 deletion supports the diagnosis of chronic eosinophilic leukemia (CEL) in patients with chronic hypereosinophilia.     ///    \"In FIP1L1-PDGFRA (+) CEL, palpable splenomegaly was present in 5/8 cases, serum vitamin B(12) was always markedly increased, and marrow biopsies revealed a distinctively myeloproliferative aspect. \"    ///    \"Thus, correlating IHES/CEL genotype with phenotype, FIP1L1-PDGFRA (+) CEL emerges as a homogeneous clinicobiological entity, where imatinib can induce molecular remission. \"    ///    \"Eight had FIP1L1-PDGFRA (+) CEL, three had FIP1L1-PDGFRA (-) CEL and six had IHES. \"    ///    \"In the female patient, 1 log reduction of FIP1L1-PDGFRA copy number was reached as by real-time quantitative PCR (RQ-PCR). \"    ///    \"Imatinib induced rapid complete hematological responses in 4/4 treated FIP1L1-PDGFRA (+) cases, including one female, and complete molecular remission in 2/3 evaluable cases. \"    ///    \"FIP1L1-PDGFRA (+) CEL responded poorly to steroids, hydroxyurea or interferon-alpha, and had a high probability of eosinophilic endomyocarditis (n=4) and disease-related death (n=4). \"'), ('664', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '24703642', '109', 'histiocytoma', 'FISH', '', 'Oncogene', '', '', '', 'KB', '', 'FISH analysis showed the absence of COL1A1-PDGFB fusion gene. '), ('665', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '22806436', '109', 'leukemia;hypereosinophilic syndrome\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Using of low-dose imatinib mesylate (100?mg/day) a hematological and molecular remission in all patients displaying the FIP1L1-PDGFRA fusion gene was observed.     ///    FIP1L1-PDGFRA fusion is a clonal marker for the diagnosis and treatment of HES.     ///    \"Patients with FIP1L1-PDGFRA fusion presented with more bone marrow eosinophils and peripheral blood eosinophilia as well as anemia, leukocytosis and thrombocytopenia. \"    ///    FIP1L1-PDGFRA fusion was found in eight patients. '), ('666', 'RAR_PML', '', 'RAR', 'PML', '22972688', '109', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia;sarcoma\r\r', 'FISH ', '', 'Oncogene', '', '', '', '', '', ' Acute promyelocytic leukemia (APL) is a malignant subtype of acute myeloid leukemia caused by the PML-retinoic acid receptor (RAR)? fusion gene. '), ('667', 'PDGFA_FIP1L1', '', 'PDGFA', 'FIP1L1', '15621768', '109', 'endomyocardial fibrosis;eosinophilic leukemia;lymphoblastic leukemia', 'FISH', 'Kinase', '', '', '', '', '', '', 'Imatinib is an excellent candidate for first line treatment of Loeffler\'s endocarditis, especially when the FIP1L1/PDGFA fusion gene is detected.. '), ('668', 'IGH_CCND1', 't(11;14) (q13;q32) / t(11;14)(q13;q32) / t(11;14)  / t(4;14)(p16;q32) / ', 'IGH', 'CCND1', '19787791', '109', 'multiple myeloma\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'We found 15 different variants of the t(11;14) that are the consequence of different 11q13 breakpoints and various deletions of Variable (del IGH Var) or Constant (del IGH Const) IGH segments and also duplications and losses of the IGH gene on the normal nontranslocated chromosome 14 as well as IGH/Cyclin D1 (CCND1) fusion on der(14) and CCND1/IGH fusions on der(11). '), ('669', 'PML_PAR', '', 'PML', 'PAR', '24989272', '109', 'craniopharyngioma', 'FISH', '', 'Oncogene', '', '', '', '', '', 'The APL was diagnosed by morphologic examination of bone marrow cells, the leukemia bone marrow cells were analyzed by immunophenotyping technique, the qualitative and quantitative changes of PML-PAR? fusion gene before and after treatment were monitored by using molecular biological test. '), ('670', 'EML4_ALK', '', 'EML4', 'ALK', '25706305', '109', 'non small cell lung cancer;lung cancer;adenocarc\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Here we present a meta-analysis of large-scale studies to evaluate the clinicopathological characteristics of NSCLC patients harboring the EML4-ALK fusion gene.     ///    Patients with the EML4-ALK fusion gene demonstrate unique clinicopathological and physiological characteristics.     ///    \"The positive rate of the EML4-ALK fusion gene expression in females were slightly higher than that in males, but not significantly (P = 0.52). \"    ///    \"Additionally, the EML4-ALK fusion gene was exclusive of the EGFR and KRAS mutation genes. \"    ///    Both English and Chinese databases were systematically used to search the materials of the clinicopathological characteristics of patients with NSCLC harboring the EML4-ALK fusion gene.     ///    \"The correlation of the EML4-ALK fusion gene and clinicopathological characteristics of NSCLC patients demonstrated a significant difference in smoking status, histological types, stage, and ethnic characteristics. \"    ///    \"In addition, the EML4-ALK fusion gene was mutually exclusive of the EGFR and KRAS mutation genes (P = 0.00). \"    ///    \"Our pooled analysis revealed that the EML4-ALK fusion gene was observed predominantly in adenocarcinoma, non-smoking and NSCLC patients, especially those diagnosed in the advanced clinical stage of NSCLC. \"    ///    Clinicopathological characteristics of patients with non-small-cell lung cancer who harbor EML4-ALK fusion gene: a meta-analysis..     ///    The incidence rate of EML4-ALK fusion in NSCLC patients was found to be 6.8% (472/6950). '), ('671', 'BCR_ABL1', '', 'BCR', 'ABL1', '26146560', '109', '', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Mutations of the BCR-ABL1 fusion gene represent a well established cause of resistance to tyrosine kinase inhibitors. '), ('672', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '17879017', '109', 'leukemia;hypereosinophilic syndrome;polycythemia vera\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In CEL/HES the detection of the FIP1L1-PDGFRA fusion gene and overexpression of PDGFRA and PDGFRB led to targeted therapy with tyrosine kinase inhibitors. '), ('673', 'IGH_BCL2', 't(8;14) / t(14;18) / ', 'IGH', 'BCL2', '15852472', '108', 'B cell lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'As shown by fluorescence in situ hybridization, the first case contained a IGH/MYC complicon in double minutes, whereas the second case showed a BCL2/IGH/MYC complicon on a der(8)t(8;14)t(14;18). '), ('674', 'EAP_AML1', 't(4;21)(q28;q22) / t(3;21) / ', 'EAP', 'AML1', '14695990', '108', '', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', '', 'The predicted AML1-FGA7 chimeric proteins contained a limited number of residues fused to AML1 in a situation similar to that reported for the AML1-EAP fusion that is a product of t(3;21). '), ('675', 'IGH_BCL10', 't(14;18) / t(1;14) / t(11;18) / ', 'IGH', 'BCL10', '18445693', '108', 'MALT lymphoma;B cell lymphoma;lymphoma\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', '', '', 't(14;18)/IGH-BCL2, t(14;18)/IGH-MALT1, and t(1;14)/BCL10-IGH were not detected in any case. '), ('676', 'MALT1_API2', 't(14;18) / t(1;14) / t(11;18) / ', 'MALT1', 'API2', '18445693', '108', 'MALT lymphoma;B cell lymphoma;lymphoma\r\r', 'FISH ', '', '', '', '', '', '', '', 't(11;18)/API2-MALT1 was detected in none of the cases, except for one case of DLBCL with MALT lymphoma, which showed positive signals only in MALT lymphoma cells. '), ('677', 'BCR_ABL1', '', 'BCR', 'ABL1', '20417871', '108', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'It is speculated that the amplification of the BCR/ABL1 fusion gene by duplication of Ph and tetraploidy led to the progression of CML with the e19a2 transcript..     ///    \"Nine months after starting imatinib, fluorescence in situ hybridization (FISH) with the BCR/ABL-ES fusion probe revealed 96% and 3% of bone marrow cells with one and two BCR/ABL1 fusion signals, respectively. \"    ///    FISH analysis confirmed the presence of cells with two to five BCR/ABL1 fusion signals. '), ('678', 'BCR_ABL1', 't(9;22)(q34;q11) / t(12;21)(p13;q22) / t(11q23)  / t(9;22) / t(12;21) / ', 'BCR', 'ABL1', '19875970', '108', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' 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. '), ('679', 'NPM_MLF1', 't(3;5) / t(3;5)(q25;q35) / t(3;5)  / ', 'NPM', 'MLF1', '14506644', '108', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'These findings suggest that an NPM/MLF1 fusion is the primary molecular abnormality in t(3;5) MDS and AML with multilineage dysplasia, and also that cases with NPM/MLF1 may be clinically distinct from other MDS-associated disease..     ///    Detection of NPM/MLF1 fusion in t(3;5)-positive acute myeloid leukemia and myelodysplasia..     ///    \"The NPM/MLF1-positive cases were predominantly young adult males (median age, 33 years) who responded well to hematopoietic stem cell transplantation. \"    ///    \"An NPM/MLF1 fusion was identified in 5 of 6 cases, whereas the EVI1 and Ribophorin genes were not involved in any of the cases. \"'), ('680', 'YWHAE_FAM22A', 't(10;17)(q22;p13) / p11.2;q21.33 / ', 'YWHAE', 'FAM22A', '23959973', '107', 'uterine neoplasm', 'FISH ', '', '', '', '', '', 'KB', '', 'Conversely, oncogenic t(10;17)(q22;p13) translocation yields YWHAE-FAM22A/B chimeric proteins that are associated with histologically high-grade and clinically more aggressive ESS. '), ('681', 'BCR_ABL1', '', 'BCR', 'ABL1', '18417213', '107', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Using targeted sequential fluorescence in situ hybridization (T-FISH) technique, we detected two copies of BCR-ABL1 fusion gene in the leukemic blasts while the neutrophils carried a single copy of BCR-ABL1 fusion gene, thereby proving the origin of the megakaryoblastic leukemia from a previously undiagnosed CML clone.     ///    \"We describe such a patient with no prior hematologic disease who presented with acute megakaryoblastic leukemia and extramedullary involvement, in whom the leukemic cells carried the BCR-ABL1 translocation as part of a complex karyotype. \"'), ('682', 'EVI1_AML1', '', 'EVI1', 'AML1', '24602728', '107', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'A novel multiplex RT-nPCR assay was developed to detect 16 AML-related fusion genes (AML1-EVI1, AML1-ETO, AML1-MDS1, AML1-MTG16, MLL-AF9, MLL-AF6, MLL-AF10, MLL-ENL, MLL-MLL, PML-RAR?, PLZFRAR?, NPM1-RAR?, CBFB-MYH11, DEK-CAN, SET-CAN and TLS-ERG) according to 2008 WHO classification of AML. '), ('683', 'ETO_AML1', '', 'ETO', 'AML1', '24602728', '107', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'A novel multiplex RT-nPCR assay was developed to detect 16 AML-related fusion genes (AML1-EVI1, AML1-ETO, AML1-MDS1, AML1-MTG16, MLL-AF9, MLL-AF6, MLL-AF10, MLL-ENL, MLL-MLL, PML-RAR?, PLZFRAR?, NPM1-RAR?, CBFB-MYH11, DEK-CAN, SET-CAN and TLS-ERG) according to 2008 WHO classification of AML. '), ('684', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '15914361', '107', 'hypereosinophilic syndrome\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Despite the response to imatinib, the FIP1L1-PDGFRA fusion gene was not detected by fluorescence in situ hybridization analysis. '), ('685', 'PCM1_RET', '', 'PCM1', 'RET', '10980597', '106', '', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'RET/PCM-1: a novel fusion gene in papillary thyroid carcinoma.'), ('686', 'TFE3_ASPL', 'p11.2;q25 / ', 'TFE3', 'ASPL', '11438465', '106', 'renal cell carcinoma;alveolar soft part sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Primary renal neoplasms with the ASPL-TFE3 gene fusion of alveolar soft part sarcoma: a distinctive tumor entity previously included among renal cell carcinomas of children and adolescents..     ///    \"A relationship between these renal tumors and ASPS was initially suggested by the cytogenetic finding of a balanced t(X;17)(p11.2;q25) in two of the cases, and the ASPL-TFE3 fusion transcripts were then confirmed by reverse transcriptase-polymerase chain reaction. \"    ///    \"We describe herein eight morphologically distinctive renal tumors occurring in young people that bear the identical ASPL-TFE3 fusion transcript as ASPS, with the distinction that the t(X;17) translocation is cytogenetically balanced in these renal tumors. \"    ///    \"The morphology of these eight ASPL-TFE3 fusion-positive renal tumors, although overlapping in some aspects that of classic ASPS, more closely resembles renal cell carcinoma (RCC), which was the a priori diagnosis in all cases. \"'), ('687', 'TEL_AML1', '', 'TEL', 'AML1', '12048236', '106', 'leukemia\r\r', 'FISH;PCR ', '', '', '', '', '', '', '', 'Using parallel reverse transcriptase-PCR and real-time PCR (Taqman) screening, we find that the common leukemia fusion genes, TEL-AML1 or AML1-ETO, are present in cord bloods at a frequency that is 100-fold greater than the risk of the corresponding leukemia. '), ('688', 'ETO_AML1', '', 'ETO', 'AML1', '12048236', '106', 'leukemia\r\r', 'FISH;PCR ', '', '', '', '', '', '', '', 'Using parallel reverse transcriptase-PCR and real-time PCR (Taqman) screening, we find that the common leukemia fusion genes, TEL-AML1 or AML1-ETO, are present in cord bloods at a frequency that is 100-fold greater than the risk of the corresponding leukemia. '), ('689', 'FGFR1_CUX1', 't(7;8)(q22;p11) / ', 'FGFR1', 'CUX1', '21330321', '105', 'lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR ', 'Kinase', '', '', '', '', '', '', 'The kinase inhibitor TKI258 is active against the novel CUX1-FGFR1 fusion detected in a patient with T-lymphoblastic leukemia/lymphoma and t(7;8)(q22;p11)..     ///    We further investigated this novel FGFR1 fusion using the interleukin-3 (IL-3) dependent Ba/F3 cell line and demonstrated IL-3 independent cell growth of CUX1-FGFR1 expressing cells.     ///    This growth inhibition was shown to be mediated by inhibition of CUX1-FGFR1 kinase activity for TKI258 but not PKC412.     ///    TKI258 and PKC412 potently inhibited proliferation of CUX1-FGFR1 transformed Ba/F3 cells.     ///    \"In summary, we identified a novel CUX1-FGFR1 fusion oncogene in a patient with the 8p11 myeloproliferative syndrome and demonstrated its transforming potential in the Ba/F3 cell line. \"'), ('690', 'RARA_PML', 't(15;17) / ', 'RARA', 'PML', '17375301', '105', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'For some leukemia subtypes such as AML M3/M3v with t(15;17)/PML-RARA or Philadelphia-positive ALL targeted therapy options are available. '), ('691', 'TSC2_PKD1', '16p13.3 / ', 'TSC2', 'PKD1', '15007723', '105', 'tuberous sclerosis', 'FISH ', '', '', 'Tumor_suppressor', '', '', '', '', 'Using fluorescence in situ hybridization and plasmid probe CW23, which spans the adjacent 3\' regions of TSC2 and PKD1 genes, we identified a submicroscopic deletion on only one of the chromosomes 16p13.3, thus permitting the diagnosis of the TSC2-PKD1 contiguous gene syndrome..     ///    Findings were highly suspicious of TSC2-PKD1 contiguous gene syndrome.     ///    A TSC2-PKD1 contiguous gene syndrome caused by chromosomal microdeletions disrupting both the TSC2 and PKD1 genes has been identified in patients with TSC and early-onset severe ADPKD. '), ('692', 'MYH11_CBFB', 't(8;21)(q22;q22) / inv(16)(p13q22) / ', 'MYH11', 'CBFB', '17981216', '105', 'granulocytic sarcoma', 'FISH ', '', '', '', '', '', '', '', 'Although the myeloblasts did not show the inv(16)(p13q22) (CBFB/MYH11), a gain of multiple copies of the CBFB gene was detected with fluorescence in situ hybridization analysis. '), ('693', 'TFE3_ASPL', 'p11.2;q25 / ', 'TFE3', 'ASPL', '24493828', '105', 'alveolar soft part sarcoma;sarcoma\r\r', 'FISH', '', '', '', '', '', '', '', 'FISH was performed to validate the presence of the t(X;17)(p11.2;q25) ASPL-TFE3 fusion and, hence, confirm the aCGH observations.     ///    FISH analysis identified the ASPL-TFE3 fusion in all cases. '), ('694', 'RUNX1_ETV6', 't(12;21)(p13;q22) / t(12;21) / ', 'RUNX1', 'ETV6', '18241254', '105', '', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' The prognostic impact of t(12;21)(p13;q22) [ETV6/RUNX1 fusion] in paediatric acute lymphoblastic leukaemia (ALL) has been extensively debated, particularly with regard to the frequency of late relapses and appropriate treatment regimens.     ///    Outcome of ETV6/RUNX1-positive childhood acute lymphoblastic leukaemia in the NOPHO-ALL-1992 protocol: frequent late relapses but good overall survival..     ///    \"We have retrospectively collected 679 ALLs with known ETV6/RUNX1 status, as ascertained by fluorescence in situ hybridization or reverse-transcription polymerase chain reaction, treated according to the Nordic Society of Paediatric Haematology and Oncology -ALL-1992 protocol. \"    ///    \"As yet, there is no reliable plateau in the EFS curve, a fact that raises the question as to when the prognostic ramifications of ALLs harbouring ETV6/RUNX1 should be evaluated.. \"'), ('695', 'CCND1_ABL1', 't(11;14) / ', 'CCND1', 'ABL1', '24060591', '105', 'chronic lymphocytic leukemia;leukemia;B cell lymphoma;mantle cell lymphoma;lymphoma\r\r', 'FISH;PCR ', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In t(11;14)/IGH@-CCND1 positive lymphoma samples (n = 150), median %CCND1/ABL1 expression level was 178.2 (range: 1.5-4, 152.0).     ///    \"Normalized by t(11;14)/IGH@-CCND1 positive cells as determined by fluorescence in situ hybridization IGH@-CCND1 positive samples showed a median %CCND1/ABL1 of 445.8 (range: 17.9-4,848.5). \"    ///    \"%CCND1/ABL1 was higher in MCL than in the remaining B-cell lymphomas (mean ?? SD, 392.9 ?? 685.3 vs. \"    ///    A normalized %CCND1/ABL1 expression of at least 17.0 was chosen as threshold for CCND1 positivity.     ///    \"Healthy individuals had low %CCND1/ABL1 (median, 1.1. \"'), ('696', 'TSC2_TSC', '16p13.3 / ', 'TSC2', 'TSC', '10944454', '105', 'renal cell carcinoma\r\r', 'FISH ', '', '', 'Tumor_suppressor', '', '', '', '', 'Rat Erc and its human homologue were localized in chromosomes 10q12-21 and 16p13.3, respectively, both of which coincided with the locus of the Tsc2/TSC gene. '), ('697', 'MALT1_API2', 't(11;18)(q21;q21) / ', 'MALT1', 'API2', '21396678', '105', 'lymphoma\r\r', 'FISH ', '', '', '', '', '', '', '', ' Pulmonary mucosa-associated lymphoid tissue lymphoma is unique in that chronic inflammation is rare and that API2-MALT1 fusion, resulting from t(11;18)(q21;q21), occurs frequently.     ///    \"In this study, we examined 20 cases for API2-MALT1 fusion using the multiplex reverse-transcription polymerase chain reaction and looked for trisomy 3, trisomy 18, and abnormalities of MALT1 and IGH genes using fluorescence in situ hybridization. \"    ///    \"Analysis of API2-MALT1 fusion, trisomies, and immunoglobulin VH genes in pulmonary mucosa-associated lymphoid tissue lymphoma.. \"    ///    One case showed API2-MALT1 fusion and trisomy 3.     ///    MALT1 gene abnormalities were concordant with API2-MALT1 fusion or trisomy 18.     ///    \"On detection of API2-MALT1 fusion and trisomies, we were able to divide our cases into 3 groups, API2-MALT1 positive, trisomy positive, and no detectable gene abnormality, suggesting that tumor development had processed along different genetic pathways. \"    ///    \"Of 20 cases studied, we detected gene abnormalities in 16: API2-MALT1 fusion in 9, trisomy 3 in 5, trisomy 18 in 4, MALT1 abnormality in 13, and IGH abnormality in 1. \"    ///    \"In addition, both mutated and unmutated tumor cases were found to carry the API2-MALT1 fusion and trisomy 3. \"'), ('698', 'MUM1_IRF4', 't(14;18)  / ', 'MUM1', 'IRF4', '21915363', '105', 'B cell lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Immunohistochemical staining for CD10, BCL6, LMO2, MUM1/IRF4, and BCL2 and fluorescence in situ hybridization for t(14;18) were conducted, with ?93% blinded duplicate agreement.     ///    \"CD10, LMO2, and BCL2 expression was similar to previous reports (32%, 44%, and 44% of DLBCLs, respectively), but BCL6 and MUM1/IRF4 expression was lower than expected (29% and 5%, respectively). \"'), ('699', 'ETV6_CDKN1B', '12p12.3 / del(12p) / del(12p)  / ', 'ETV6', 'CDKN1B', '10036184', '105', 'leukemia\r\r', 'FISH;PCR', 'Kinase', '', 'Tumor_suppressor', '', '', '', '', 'As an initial step toward the cloning of a potential tumor suppressor gene at 12p12.3, we mapped the ETV6-CDKN1B region physically using bacterial artificial chromosome (BAC) and P1-derived clone (PAC) contigs.     ///    Methylation changes of the CpG islands in the ETV6-CDKN1B interval were assessed by Southern analysis for leukemia patients with hemizygous 12p deletions. '), ('700', 'IGH_CCND1', 'del(13q)  / ', 'IGH', 'CCND1', '24242215', '105', 'breast carcinoma', 'FISH ', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Fluorescence in situ hybridization was positive for del(13q) and p53 deletion and negative for CCND1/IGH. '), ('701', 'PPP2R5E_PPP2R5A', '6p21.1 / 7p11.2 / ', 'PPP2R5E', 'PPP2R5A', '8812429', '105', '', 'FISH ', '', '', '', '', '', '', '', 'Genes PPP2R5A-PPP2R5E encoding the phosphatase regulatory proteins B56alpha, B56beta, B56gamma, B56delta, and B56epsilon have now been mapped by fluorescence in situ hybridization to chromosome regions 1q41, 11q12, 3p21, 6p21.1, and 7p11.2 --> p12, respectively..     ///    \"Assignment of human protein phosphatase 2A regulatory subunit genes b56alpha, b56beta, b56gamma, b56delta, and b56epsilon (PPP2R5A-PPP2R5E), highly expressed in muscle and brain, to chromosome regions 1q41, 11q12, 3p21, 6p21.1, and 7p11.2 --> p12.. \"'), ('702', 'IGH_CCND1', 't(11;14) / ', 'IGH', 'CCND1', '24060591', '105', 'chronic lymphocytic leukemia;leukemia;B cell lymphoma;mantle cell lymphoma;lymphoma\r\r', 'FISH;PCR ', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'For unnormalized samples, the positive detection rate of t(11;14)/IGH@-CCND1 by CCND1 expression was 87.3%.     ///    \"In t(11;14)/IGH@-CCND1 positive lymphoma samples (n = 150), median %CCND1/ABL1 expression level was 178.2 (range: 1.5-4, 152.0). \"    ///     Molecular diagnosis of mantle cell lymphoma (MCL) can be difficult because the t(11;14)/IGH@-CCND1 is extremely heterogeneous at the DNA level.     ///    The negative predictive value for exclusion of a t(11;14)/IGH@-CCND1 by CCND1 expression was 95.3% by the above threshold.     ///    \"Normalized by t(11;14)/IGH@-CCND1 positive cells as determined by fluorescence in situ hybridization IGH@-CCND1 positive samples showed a median %CCND1/ABL1 of 445.8 (range: 17.9-4,848.5). \"'), ('703', 'FOXO1_FGFR1', 't(2;13)(q35;q14) / t(1;13)(p36;q14) / t(8;13;9) / p11.2;q14;9 / 8p12p11.2 / ', 'FOXO1', 'FGFR1', '21666686', '105', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH ', 'Kinase', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Single-nucleotide polymorphism-based microarray analysis illustrated a co-amplification of the FOXO1 gene at 13q14 and the FGFR1 gene at 8p12p11.2, suggesting formation and amplification of a chimerical FOXO1-FGFR1 gene.     ///    FOXO1-FGFR1 fusion and amplification in a solid variant of alveolar rhabdomyosarcoma.. '), ('704', 'NPM_MLF1', 't(3;5)(q25;q35) / ', 'NPM', 'MLF1', '23716555', '105', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'In two of these cases we found the chromosomal translocation t(3;5)(q25;q35) encoding the NPM-MLF1 fusion protein. '), ('705', 'KIAA1549_BRAF', '', 'KIAA1549', 'BRAF', '21610142', '104', 'astrocytoma\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Recent studies have revealed that the majority of pediatric low-grade astrocytomas (PLGA) harbor the BRAF-KIAA1549 (B-K) fusion gene resulting in constitutive activation of the RAS/MAPK pathway.     ///    BRAF-KIAA1549 fusion predicts better clinical outcome in pediatric low-grade astrocytoma.. '), ('706', 'PAX7_FKHR', 't(2;13)(q35;q14) / t(1;13)(p36;q14) / 11p15.5 / t(3;11)(p21;p15) / ', 'PAX7', 'FKHR', '12850375', '104', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Two ARMS had the t(2;13)(q35;q14) and the third a PAX7/FKHR fusion, a cryptic t(1;13)(p36;q14), undetected by cytogenetic techniques, but revealed by reverse transcriptase polymerase chain reaction. '), ('707', 'BCL2_IGH', '', 'BCL2', 'IGH', '11307316', '104', 'T cell leukemia;leukemia;lymphoma;hematologic malignancy\r\r', 'FISH;PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Polymerase chain reaction(PCR) method using genomic DNA is performed for limited types of diseases such as lymphoma with bcl-2/IgH fusion gene. '), ('708', 'NUP214_ABL1', '', 'NUP214', 'ABL1', '18799215', '104', 'T cell leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Double minute chromosomes containing MYB gene and NUP214-ABL1 fusion gene in T-cell leukemia detected by single nucleotide polymorphism DNA microarray and fluorescence in situ hybridization.. '), ('709', 'IGH_BCL2', 't(14;18)  / t(14;18) / ', 'IGH', 'BCL2', '15723651', '104', 'follicular lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'We performed interphase fluorescence in situ hybridization (FISH) analysis to detect Bcl-2/IgH, Bcl-6 gene rearrangement, Bcl-2 gene amplification, and the cyclinD1/IgH gene in formalin-fixed paraffin embedded specimens from our FL archives. '), ('710', 'MLLT10_CALM', '', 'MLLT10', 'CALM', '20875875', '104', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia;sarcoma;lymphoma;hematologic malignanc\r\r', 'FISH ', '', '', '', '', '', '', '', ' Patients with various hematologic malignancies, including acute lymphoblastic leukemia (ALL), acute myeloblastic leukemia (AML), diffuse histiocytic lymphoma, and granulocytic sarcoma, have sometimes been shown to carry the PICALM-MLLT10 fusion gene (alias CALM-AF10) by various cytogenetic methodologies. '), ('711', 'SYT_SSX', '', 'SYT', 'SSX', '18301245', '104', 'synovial sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', ' Molecular detection of SYT-SSX fusion genes is the most reliable tool for diagnosing synovial sarcoma (SS). '), ('712', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '16271957', '104', 'acute lymphoid leukemia;biphenotypic acute leukemia', 'FISH ', '', '', '', '', '', '', '', 'Both cases were differentiated FAB AML-M2 and demonstrated the t(8;21) with cytogenetics and the AML1/ETO rearrangement with fluorescence in situ hybridization (FISH). '), ('713', 'PICALM_MLLT10', '', 'PICALM', 'MLLT10', '20875875', '104', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia;sarcoma;lymphoma;hematologic malignanc\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'Cases with the PICALM-MLLT10 fusion gene can involve a diagnostic dilemma for the following reasons: (1) the fusion gene occurs very rarely, (2) the cases do not have a distinct myeloid or lymphoid morphology and cells often appear immature, (3) cases usually have a mixed T-cell and myeloid phenotype, and (4) cases often have a mixed clinical presentation (e.g., mediastinal mass in a patient with AML).     ///    \" Patients with various hematologic malignancies, including acute lymphoblastic leukemia (ALL), acute myeloblastic leukemia (AML), diffuse histiocytic lymphoma, and granulocytic sarcoma, have sometimes been shown to carry the PICALM-MLLT10 fusion gene (alias CALM-AF10) by various cytogenetic methodologies. \"    ///    Acute leukemia with PICALM-MLLT10 fusion gene: diagnostic and treatment struggle..     ///    \"Routine acute leukemia fluorescence in situ hybridization panels do not include a probe for the PICALM-MLLT10 fusion gene, and therefore diagnosis can be made only when karyotyping is available. \"    ///    A 27-year-old woman was diagnosed with AML with the PICALM-MLLT10 fusion gene.     ///    \"The case report and literature review here (including discussion of the poor prognosis and of management, including CNS prophylaxis) are intended to raise awareness and to inform about PICALM-MLLT10 in acute leukemia.. \"'), ('714', 'MALT1_API2', '', 'MALT1', 'API2', '25876571', '104', 'MALT lymphoma;lymphoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'A fluorescence in situ hybridization analysis revealed no fusion genes of API2-MALT1, although trisomy of chromosome 18 was identified. '), ('715', 'SYT_SSX', '', 'SYT', 'SSX', '26045850', '104', 'synovial sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'A diagnosis of SS was confirmed by detection of the SYT-SSX fusion gene via fluorescence in situ hybridization. '), ('716', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '17310000', '103', 'dermatofibrosarcoma protuberans;sarcoma\r\r', 'FISH ', '', 'Oncogene', '', '', '', 'KB', '', 'The collagen, type I, alpha 1-platelet-derived growth factor beta fusion gene (COL1A1-PDGFB) was detected by means of reverse transcriptase-polymerase chain reaction or fluorescence in situ hybridization.     ///    \"The collagen, type I, alpha 1-platelet-derived growth factor beta fusion gene (COL1A1-PDGFB) was detected by means of reverse transcriptase-polymerase chain reaction or fluorescence in situ hybridization.\"'), ('717', 'EML4_ALK', '', 'EML4', 'ALK', '26805736', '103', 'non small cell lung cancer;lung cancer\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'IHC can be a simple and rapid way in screening EML4-ALK fusion gene mutation and exhibits important clinical values..     ///    Figures showed that the disease control rate could reach up to 80% in NSCLC patients with EML4-ALK fusion gene after treated with ALK inhibitors.     ///    Immunohistochemical detection of EML4-ALK fusion gene mutation with specific antibody is feasible.    ///    Immunohistochemical detection of EML4-ALK fusion gene mutation with specific antibody is feasible.     ///    \"Thus, exploring an accurate and rapid detecting method is the key in screening NSCLC patients with EML4-ALK expressions. \"    ///    [Value of Immunohistochemical Methods in Detecting EML4-ALK Fusion Mutations: A Meta-analysis]..     ///    The aim of this study is to analyze the specificity and sensitivity of IHC in detecting EML4-ALK fusion mutations. '), ('718', 'NUT_BRD4', 't(15;19) / ', 'NUT', 'BRD4', '26402248', '103', '', 'FISH ', 'Kinase', '', '', '', '', 'KB', '', ' Nuclear protein in testis (NUT) midline carcinoma (NMC) is a rare cancer that displays a characteristic chromosomal rearrangement of BRD4-NUT t(15;19)(q14;q13.1).     ///    Tumor cells demonstrated BRD4-NUT fusion on fluorescence in situ hybridization. '), ('719', 'EML4_ALK', '', 'EML4', 'ALK', '21656749', '103', 'non small cell lung cancer;lung cancer\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'It was recently reported in nonsmall cell lung cancer (NSCLC) that the fusion protein encoded by echinoderm microtubule-associated protein-like 4-ALK (EML4-ALK) fusion gene conferred oncogenic properties.     ///    Overexpression of the novel ALK fusion gene and variants 3a and 3b of EML4-ALK was performed to assess downstream signaling and functional effects.     ///    \"The authors used 5\' rapid amplification of complementary DNA ends to screen for potential, novel 5\' fusion partners of ALK other than EML4-ALK. \"'), ('720', 'PAX7_FKHR', '', 'PAX7', 'FKHR', '8889501', '102', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Novel formation and amplification of the PAX7-FKHR fusion gene in a case of alveolar rhabdomyosarcoma..     ///    \"Comparative genomic hybridization revealed amplification at 13q14 and 1p36, suggesting amplification of the PAX7-FKHR fusion gene in two cases of alveolar rhabdomyosarcoma. \"    ///    \"Chromatin release studies suggested that the amplified sequences correlated with amplification of the PAX7-FKHR fusion gene which resulted from the insertion of PAX7 sequences into the first intron of FKHR gene, in keeping with the absence of cytogenetic evidence for derivative chromosomes.. \"    ///    A PAX7-FKHR fusion transcript was demonstrated in both cases by reverse transcription-polymerase chain reaction followed by sequence analysis. '), ('721', 'EML4_ALK', '', 'EML4', 'ALK', '22124476', '102', 'malignant pleural effusion', 'FISH;PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In addition, K-ras mutation was analyzed for patients without EML4-ALK fusion genes.     ///    There were 39 patients (34%) with the EML4-ALK fusion gene.     ///    The K-ras mutation rate for patients without EML4-ALK fusion gene was 6.5%.     ///    \"Comparing patients with tumors harboring variant 1 with those harboring nonvariant 1 EML4-ALK fusion genes, there were no significant differences in clinical factors and survival outcome. \"    ///    \"For lung adenocarcinoma patients with wild-type EGFR, EML4-ALK translocation is associated with longer overall survival.. \"    ///    EML4-ALK translocation predicts better outcome in lung adenocarcinoma patients with wild-type EGFR..     ///    \"By multivariate analysis, patients who had better performance status (p < 0.001) and EML4-ALK translocation (p = 0.017) had longer overall survival. \"    ///    \"For lung adenocarcinoma patients with wild-type EGFR, EML4-ALK translocation is associated with longer overall survival..\"    ///    Lung adenocarcinoma patients with malignant pleural effusions having wild-type EGFR and measurable target lesions were enrolled for EML4-ALK analysis by reverse transcription-polymerase chain reaction and direct sequencing.     ///    \"To understand the impact of EML4-ALK on the prognosis of non-small cell lung cancer, we examined EML4-ALK fusion in lung adenocarcinoma from patients with wild-type EGFR and analyzed their clinical treatment outcomes. \"    ///    \"To understand the impact of EML4-ALK on the prognosis of non-small cell lung cancer, we examined EML4-ALK fusion in lung adenocarcinoma from patients with wild-type EGFR and analyzed their clinical treatment outcomes.\"    ///    \"Demographic data, EML4-ALK status, and survival data were analyzed. \"    ///    \"Demographic data, EML4-ALK status, and survival data were analyzed.\"    ///    EML4-ALK fusion is mutually exclusive with epidermal growth factor receptor (EGFR) mutations.     ///    \" The echinoderm microtubule-associated protein like 4-anaplastic lymphoma kinase (EML4-ALK) fusion represents a novel target in a subset of non-small cell lung cancer, especially adenocarcinoma. \"    ///    \"The echinoderm microtubule-associated protein like 4-anaplastic lymphoma kinase (EML4-ALK) fusion represents a novel target in a subset of non-small cell lung cancer, especially adenocarcinoma.\"'), ('722', 'PAX7_FOXO1', '', 'PAX7', 'FOXO1', '22447499', '102', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'Finally, fusion gene amplification and PAX7-FOXO1 fusion status were each associated with significantly improved outcome.     ///    \"Expression studies demonstrated that the fusion transcripts were generally expressed at higher levels in amplified cases, and that the PAX7-FOXO1 fusion transcript was expressed at higher levels than the PAX3-FOXO1 fusion transcript. \"'), ('723', 'NTRK3_ETV6', '', 'NTRK3', 'ETV6', '12594387', '101', 'chronic myeloid leukemia;myeloid leukemia;leukemia;anaplastic large cell lymphoma;sarcoma;lymphoma\r\r', 'FISH ', 'Kinase', '', '', '', '', 'KB', 'Seq', 'The description of ALK gene rearrangements in IMT and ALCL is the second example, after the observation of ETV6-NTRK3 in congenital fibrosarcoma and in a case of chronic myeloid leukemia, of identical gene fusions occurring in two different cell lines: hematopoietic and mesenchymal. '), ('724', 'NR4A3_EWSR1', '', 'NR4A3', 'EWSR1', '22743288', '101', 'chondrosarcoma;synovial sarcoma;sarcoma\r\r', 'FISH ', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', '', 'Furthermore, reverse transcriptase-polymerase chain reaction studies of both the primary tumor and the recurrence confirmed the presence of both SS18-SSX2 and EWSR1-NR4A3 (exon 3) gene fusions, characteristic of SS and EMC, respectively.     ///    This is the first reported case of a remarkable soft tissue sarcoma that exhibits overlapping morphologic features between SS and EMC and that also harbors a combination of SS18-SSX2 and EWS-NR4A3 gene fusions. '), ('725', 'SYT_SSX', '', 'SYT', 'SSX', '17334346', '101', 'chondrosarcoma;synovial sarcoma;ewing sarcoma;solitary fibrous tumor;sarcoma\r\r', 'FISH;PCR', '', '', '', '', '', '', '', '18) translocation and SYT-SSX fusion gene) and 99 soft tissue tumors of various types. '), ('726', 'RARA_PML', 't(2;15;17)(q21;q22;q21) / ', 'RARA', 'PML', '10913680', '100', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'A PML/RARA chimeric gene on chromosome 2 in a patient with acute promyelocytic leukemia (M3) associated with a new variant translocation: t(2;15;17)(q21;q22;q21)..     ///    \"The karyotypic interpretation was confirmed by fluorescence in situ hybridization (FISH) with the use of painting probes of chromosomes 2, 15, and 17 and a PML/RARA dual color DNA probe. \"    ///    \"These results suggest that the critical event in the development of APL is the formation of a PML/RARA chimeric gene, regardless of its locus in the genome.. \"'), ('727', 'BCR_ABL1', 't(9;22)(q34;q11) / t(4;11)(q21;q23) / t(12;21)(p13;q22) / ', 'BCR', 'ABL1', '20701601', '100', '', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The abnormalities with the most significant impact for treatment and management of BCP-ALL are t(9;22)(q34;q11)/BCR-ABL1, t(4;11)(q21;q23)/MLL-AFF1 and near-haploidy/low hypodiploidy for high risk stratification and, to a lesser extent, t(12;21)(p13;q22)/ETV6-RUNX1 and high hyperdiploidy for good risk management. '), ('728', 'CDKN2B_ARF', '9p21.3 / ', 'CDKN2B', 'ARF', '16909113', '100', '', 'FISH ', 'Kinase', '', '', '', '', '', '', 'Analysis of 10 PXAs with available high molecular weight DNA by high-resolution array-based CGH indicated homozygous 9p21.3 deletions involving the CDKN2A/p14(ARF)/CDKN2B loci in six tumors (60%).     ///    \"Frequent loss of chromosome 9, homozygous CDKN2A/p14(ARF)/CDKN2B deletion and low TSC1 mRNA expression in pleomorphic xanthoastrocytomas.. \"    ///    \"Taken together, our study identifies loss of chromosome 9 as the most common chromosomal imbalance in PXAs and suggests important roles for homozygous CDKN2A/p14(ARF)/CDKN2B deletion as well as low TSC1 mRNA expression in these tumors.. \"'), ('729', 'SSX1_SS18', 't(11;22)  / t(2;13)  / ', 'SSX1', 'SS18', '19214114', '100', 'synovial sarcoma;rhabdomyosarcoma;neuroblastoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', 'KB', '', 'Karyotype on fresh tissue represents a genome-wide screen of gross chromosomal alterations, whereas fluorescence in situ hybridization and polymerase chain reaction detect specific defects that are characteristic of a given tumor type such as t(11;22) EWSR1-FLI1 in Ewing family tumors, t(X;18) SS18-SSX1 in synovial sarcoma, t(2;13) PAX3-FOXO1A in alveolar rhabdomyosarcoma, and MYCN gene amplification in neuroblastoma. '), ('730', 'PAX3_FOXO1A', 't(11;22)  / t(2;13)  / ', 'PAX3', 'FOXO1A', '19214114', '100', 'synovial sarcoma;rhabdomyosarcoma;neuroblastoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Karyotype on fresh tissue represents a genome-wide screen of gross chromosomal alterations, whereas fluorescence in situ hybridization and polymerase chain reaction detect specific defects that are characteristic of a given tumor type such as t(11;22) EWSR1-FLI1 in Ewing family tumors, t(X;18) SS18-SSX1 in synovial sarcoma, t(2;13) PAX3-FOXO1A in alveolar rhabdomyosarcoma, and MYCN gene amplification in neuroblastoma. ');
INSERT INTO `ChimerPub_dump` VALUES ('731', 'FLI1_EWSR1', 't(11;22)  / t(2;13)  / ', 'FLI1', 'EWSR1', '19214114', '100', 'synovial sarcoma;rhabdomyosarcoma;neuroblastoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', 'Seq', 'Karyotype on fresh tissue represents a genome-wide screen of gross chromosomal alterations, whereas fluorescence in situ hybridization and polymerase chain reaction detect specific defects that are characteristic of a given tumor type such as t(11;22) EWSR1-FLI1 in Ewing family tumors, t(X;18) SS18-SSX1 in synovial sarcoma, t(2;13) PAX3-FOXO1A in alveolar rhabdomyosarcoma, and MYCN gene amplification in neuroblastoma. '), ('732', 'MLL_AFF1', 't(9;22)(q34;q11) / t(4;11)(q21;q23) / t(12;21)(p13;q22) / ', 'MLL', 'AFF1', '20701601', '100', '', 'FISH ', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'The abnormalities with the most significant impact for treatment and management of BCP-ALL are t(9;22)(q34;q11)/BCR-ABL1, t(4;11)(q21;q23)/MLL-AFF1 and near-haploidy/low hypodiploidy for high risk stratification and, to a lesser extent, t(12;21)(p13;q22)/ETV6-RUNX1 and high hyperdiploidy for good risk management. '), ('733', 'ETV6_CBFA2', 't(12;21)(p12;q22) / t(12;21) / p12;q22 / ', 'ETV6', 'CBFA2', '9233588', '100', '', 'FISH ', '', '', '', '', '', '', '', 'We report a variant, ider(21)(q10)t(12:21)(p12;q22), which was shown to contain double ETV6/CBFA2 fusions by fluorescence in situ hybridization.     ///    Childhood acute lymphoblastic leukaemia with ider(21)(q10)t(12;21)(p12;q22): a new recurrent abnormality showing ETV6/CBFA2 fusion..     ///    \" The cytogenetically unidentifiable t(12;21)(p12:q22), resulting in ETV6/CBFA2 fusion, is the most frequent chromosomal aberration in childhood acute lymphoblastic leukaemia ALL). \"    ///    \"pre-B-cell ALL and age 1-10 years, we suggest that all ALL displaying these changes should be tested for ETV6/CBFA2 fusion transcript.. \"'), ('734', 'RUNX1_ETV6', 't(9;22)(q34;q11) / t(4;11)(q21;q23) / t(12;21)(p13;q22) / ', 'RUNX1', 'ETV6', '20701601', '100', '', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'The abnormalities with the most significant impact for treatment and management of BCP-ALL are t(9;22)(q34;q11)/BCR-ABL1, t(4;11)(q21;q23)/MLL-AFF1 and near-haploidy/low hypodiploidy for high risk stratification and, to a lesser extent, t(12;21)(p13;q22)/ETV6-RUNX1 and high hyperdiploidy for good risk management. '), ('735', 'EML4_ALK', '', 'EML4', 'ALK', '22879549', '99', 'lung cancer;adenocarcinoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We previously reported clinicopathological findings of patients with lung cancer harboring the EML4-ALK fusion gene.     ///    EML4-ALK was detected by a reverse transcription polymerase-chain reaction and by the newly established criteria and algorithm using a fluorescence in situ hybridization method.    ///    EML4-ALK was detected by a reverse transcription polymerase-chain reaction and by the newly established criteria and algorithm using a fluorescence in situ hybridization method.     ///    We investigated EML4-ALK in tumors from 581 patients.    ///     To develop an easy-to-use technique for EML4-ALK detection and establish the effective selection of candidates for screening.     ///    \"Of the 27 patients, 8 (29.6%) had EML4-ALK. \"    ///    \"8 (1.3%) tumors had EML4-ALK, EGFR, KRAS, and ERBB2 mutations, which were mutually exclusive and were detected in 191 (32.8%), 56 (9.6%), and 11 (1.8%) tumors, respectively. \"    ///    \"Anaplastic lymphoma kinase inhibitors have therapeutic effects in lung cancer patients with EML4-ALK, accounting for merely 1%-5% of lung cancers. \"'), ('736', 'KCNMB4_CCND3', '', 'KCNMB4', 'CCND3', '25300797', '99', 'osteosarcoma', 'FISH;PCR;RT-PCR', 'Kinase', '', '', '', '', '', '', 'Recurrent LRP1-SNRNP25 and KCNMB4-CCND3 fusion genes promote tumor cell motility in human osteosarcoma..     ///    Expression of KCNMB4-CCND3 fusion gene promoted SAOS-2 cell migration.     ///    \"Two recurrent fusion genes associated with the 12q locus, LRP1-SNRNP25 and KCNMB4-CCND3, were identified and validated by RT-PCR, Sanger sequencing and fluorescence in situ hybridization, and were found to be osteosarcoma specific in a validation cohort of 240 other sarcomas. \"'), ('737', 'MTG16_AML1', 't(16;21)(q24;q22) / t(15;17)(q22;q11) / ', 'MTG16', 'AML1', '11999578', '99', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', ' A chimeric gene, AML1-MTG16, showing high homology to AML1-MTG8, was recently identified in adult leukemic patients with the abnormal karyotype t(16;21)(q24;q22).     ///    A pediatric case of secondary leukemia associated with t(16;21)(q24;q22) exhibiting the chimeric AML1-MTG16 gene..     ///    RT-PCR analysis identified expression of the chimeric gene AML1-MTG16. '), ('738', 'SYT_SSX1', '', 'SYT', 'SSX1', '25300797', '99', 'osteosarcoma', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', '', ' The identification of fusion genes such as SYT-SSX1/SSX2, PAX3-FOXO1, TPM3/TPM4-ALK and EWS-FLI1 in human sarcomas has provided important insight into the diagnosis and targeted therapy of sarcomas. '), ('739', 'SSX2_SSX1', '', 'SSX2', 'SSX1', '25300797', '99', 'osteosarcoma', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', '', ' The identification of fusion genes such as SYT-SSX1/SSX2, PAX3-FOXO1, TPM3/TPM4-ALK and EWS-FLI1 in human sarcomas has provided important insight into the diagnosis and targeted therapy of sarcomas. '), ('740', 'SNRNP25_LRP1', '', 'SNRNP25', 'LRP1', '25300797', '99', 'osteosarcoma', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', '', 'Recurrent LRP1-SNRNP25 and KCNMB4-CCND3 fusion genes promote tumor cell motility in human osteosarcoma..     ///    Expression of LRP1-SNRNP25 fusion gene promoted SAOS-2 osteosarcoma cell migration and invasion.     ///    \"Two recurrent fusion genes associated with the 12q locus, LRP1-SNRNP25 and KCNMB4-CCND3, were identified and validated by RT-PCR, Sanger sequencing and fluorescence in situ hybridization, and were found to be osteosarcoma specific in a validation cohort of 240 other sarcomas. \"'), ('741', 'FEV_EWSR1', 't(2;22)(q34;q12) / ', 'FEV', 'EWSR1', '20598147', '98', 'ewing sarcoma;clear cell sarcoma;sarcoma\r\r', 'FISH;PCR', '', '', '', '', '', 'KB', '', 'Multi-color karyotyping identified the presence of a t(2;22)(q34;q12) that was initially expected to represent a variant EWSR1-FEV translocation. '), ('742', 'SSX2_SS18', '', 'SSX2', 'SS18', '22743288', '97', 'chondrosarcoma;synovial sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'This is the first reported case of a remarkable soft tissue sarcoma that exhibits overlapping morphologic features between SS and EMC and that also harbors a combination of SS18-SSX2 and EWS-NR4A3 gene fusions.     ///    \"Furthermore, reverse transcriptase-polymerase chain reaction studies of both the primary tumor and the recurrence confirmed the presence of both SS18-SSX2 and EWSR1-NR4A3 (exon 3) gene fusions, characteristic of SS and EMC, respectively. \"'), ('743', 'USP42_RUNX1', 't(7;21)  / t(7;21)(p22;q22) / ', 'USP42', 'RUNX1', '22867997', '97', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', 'Seq', 'Three cases of the recently described translocation, t(7;21)(p22;q22), were identified, which expressed RUNX1-USP42 (ubiquitin-specific protease 42) fusion transcripts, associated with 5q abnormalities and hyperploidy. '), ('744', 'RARA_IRF2BP2', '', 'RARA', 'IRF2BP2', '25583766', '95', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'Identification of a novel fusion gene, IRF2BP2-RARA, in acute promyelocytic leukemia.. '), ('745', 'MYH11_CBFB', 'inv(16)(p13q22) / inv(16)  / t(12;16)(q24;q22) / t(12;16) / ', 'MYH11', 'CBFB', '18617061', '92', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'The presence of inv(16) was confirmed by reverse-transcription polymerase chain reaction (RT-PCR) analysis, which corresponded to the type A CBFB-MYH11 chimeric transcript. '), ('746', 'MLL_ACACA', 't(11;17)  / t(11;17) / ', 'MLL', 'ACACA', '16897742', '91', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', '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.     ///    \"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. \"'), ('747', 'SP3_PTK2', '', 'SP3', 'PTK2', '24214394', '91', '', 'FISH ', 'Kinase', '', '', '', '', '', '', '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. '), ('748', 'RARA_PLZF', 't(11;17)  / t(11;17) / ', 'RARA', 'PLZF', '16897742', '91', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', '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.     ///    \"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. \"'), ('749', 'SEPT9_MLL', 't(11;17)  / t(11;17) / ', 'SEPT9', 'MLL', '16897742', '91', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', '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.     ///    \"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. \"    ///    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-SEPT9 transcripts showed a similar high degree of variability. '), ('750', 'SYT_SSX1', '', 'SYT', 'SSX1', '23563252', '90', 'epithelial neoplasms', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', '', 'SYT-SSX1 gene fusion using fluorescence in situ hybridization and RT-PCR methods was detected in both cases. '), ('751', 'ETV6_NTRK3', 't(12;15)(p13;q25) / / ', 'ETV6', 'NTRK3', '19561229', '89', 'breast cancer\r\r', 'FISH ', 'Kinase', '', '', '', '', 'KB', 'Seq', 'Tiling path array comparative genomic hybridisation (aCGH) analysis and fluorescence in situ hybridisation (FISH) using in-house-generated probes for ETV6, NTRK3 and the fusion genes, centromeric probes for chromosomes 12 and 15, and a commercially available split-apart ETV6/NTRK3 probe.    ///    \"Tiling path array comparative genomic hybridisation (aCGH) analysis and fluorescence in situ hybridisation (FISH) using in-house-generated probes for ETV6, NTRK3 and the fusion genes, centromeric probes for chromosomes 12 and 15, and a commercially available split-apart ETV6/NTRK3 probe. \"    ///    \"To the best of our knowledge, this is the first time a carcinoma has been shown to harbour a duplication of the ETV6-NTRK3 translocation.\"    ///    \"To the best of our knowledge, this is the first time a carcinoma has been shown to harbour a duplication of the ETV6-NTRK3 translocation. \"    ///    Genomic profile of a secretory breast cancer with an ETV6-NTRK3 duplication.. '), ('752', 'RUNX1T1_RUNX1', 't(2;11)(q37;q23) / ', 'RUNX1T1', 'RUNX1', '19445675', '89', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'RUNX1-RUNX1T1 (n = 12), normal karyotype (n = 11), and MLL gene fusions other than MLL-SEPT2 (n = 10). '), ('753', 'JAK2_BCR', '', 'JAK2', 'BCR', '22384256', '88', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia\r\r', 'FISH;PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'We used fluorescence in situ hybridization and reverse transcription polymerase chain reaction (RT-PCR) assays to describe a BCR-JAK2 fusion gene from a patient with acute lymphoblastic leukemia.     ///    \"Recent reports described a BCR-JAK2 fusion gene in fatal chronic and acute myeloid leukemia, but the functional behavior of the chimeric protein remains uncharacterized. \"    ///    \"Therefore, BCR-JAK2 is a novel tyrosine-kinase with transforming activity.\"    ///    BCR-JAK2 codes for a protein containing the BCR oligomerization domain fused to the JAK2 tyrosine-kinase domain.     ///    Transforming and tumorigenic activity of JAK2 by fusion to BCR: molecular mechanisms of action of a novel BCR-JAK2 tyrosine-kinase..     ///    \"Treatment with the JAK2 inhibitor TG101209 abrogated BCR-JAK2 and STAT5 phosphorylation, decreased Bcl-xL expression and triggered apoptosis of transformed Ba/F3 cells. \"    ///    Primary mouse progenitor cells transduced with BCR-JAK2 also showed increased proliferation and survival.     ///    \"Therefore, BCR-JAK2 is a novel tyrosine-kinase with transforming activity. \"    ///    \"Moreover, transformed Ba/F3 cells developed tumors when injected subcutaneously into nude mice, thus proving the tumorigenic capacity of BCR-JAK2 in vivo. \"    ///    In vitro analysis of transfected cells showed that BCR-JAK2 is located in the cytoplasm.     ///    \"Transduction of hematopoietic Ba/F3 cells with retroviral vectors carrying BCR-JAK2 induced IL-3-independent cell growth, constitutive activation of the chimeric protein as well as STAT5 phosphorylation and translocation to the nuclei, where Bcl-xL gene expression was elicited. \"'), ('754', 'TFE3_ASPL', 'p11;q25 / p11.2;q25 / ', 'TFE3', 'ASPL', '11244503', '88', 'renal cell carcinoma;alveolar soft part sarcoma;sarcoma\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'Using appropriate primers, the reciprocal fusion transcript, TFE3-ASPL, was detected in only one of 12 cases, consistent with the non-reciprocal nature of the translocation in most cases, and supporting ASPL-TFE3 as its oncogenically significant fusion product.     ///    \"Reverse transcriptase PCR using a forward primer from ASPL and a TFE3 exon 4 reverse primer detected an ASPL-TFE3 fusion transcript in all ASPS cases (12/12: 9 type 1, 3 type 2), establishing the utility of this assay in the diagnosis of ASPS. \"    ///    \"The ASPL-TFE3 fusion replaces the N-terminal portion of TFE3 by the fused ASPL sequences, while retaining the TFE3 DNA-binding domain, implicating transcriptional deregulation in the pathogenesis of this tumor, consistent with the biology of several other translocation-associated sarcomas. \"'), ('755', 'NPM_ALK', 't(2;5)  / t(2;5) (p23;q35) / ', 'NPM', 'ALK', '9684923', '88', 'non Hodgkin Lymphoma', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', '', '', 'these results must be confirmed in prospective studies of patients with uniform staging and therapy to more fully understand the clinical significance of the t(2;5) and its novel chimeric protein, NPM-ALK..     ///    \"Multiple techniques including reverse transcriptase-polymerase chain reaction (RT-PCR) amplification of NPM-ALK fusion transcripts, genomic DNA-PCR, RNA in situ hybridization, and fluorescence in situ hybridization (FISH) of metaphase chromosomes and interphase nuclei, and immunohistochemical detection of the 80 kilodalton protein (p80) derived from the NPM-ALK fusion have enabled surveys of normal and lymphoma tissues for evidence of the translocation. \"    ///    \"In lymphoma, NPM-ALK expression is most often seen in young patients with the monomorphic or small-cell variant of ALCL who present with advanced stage disease and have tumors with a CD30+, T- or null-cell phenotype. \"    ///    \"NPM-ALK is rarely, if ever, detected in Hodgkin\'s disease or secondary ALCL. \"    ///    A retrospective study has suggested that expression of NPM-ALK is associated with a better overall 5-year survival.     ///    \"In addition, expression of NPM-ALK has been found in occasional CD30 negative B-cell lymphomas with diffuse large cell or immunoblastic histology. \"    ///    \"Although initially found in primary nodal ALCL, recent studies suggest that NPM-ALK expression may occur in lymphoma at extranodal sites, including the skin. \"    ///    \"it remains controversial, however, whether CD30+ primary cutaneous lymphoma and its benign counterpart, lymphomatoid papulosis (LyP), express NPM-ALK in some cases. \"    ///    \"This translocation creates a novel fusion protein, NPM-ALK, which has transforming properties in vitro and can cause large-cell lymphoma in vivo when transfected into murine bone marrow. \"'), ('756', 'TEL_AML1', '', 'TEL', 'AML1', '19893343', '86', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia\r\r', 'FISH', '', '', '', '', '', '', '', 'For acute lymphoblastic leukemia profile test, FISH probes for BCR/ABL, TEL/AML1, MLL gene rearrangement and CDKN2A deletion were used.     ///    \"Among these 51 cases, TEL/AML1 abnormalities were detected in 44.3%, followed by the abnormal CDKN2A signal (24.6%) and hyperdiploidy (18.0%). \"'), ('757', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '22523339', '86', 'dermatofibrosarcoma protuberans;sarcoma\r\r', 'FISH ', '', 'Oncogene', '', '', '', 'KB', '', 'therefore, fluorescence in situ hybridisation (FISH) analysis is often employed to identify typical COL1A1-PDGFB fusion or gene rearrangement. '), ('758', 'TEC_TAF2N', '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', 'TAF2N', '12598313', '86', '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). '), ('759', 'BCR_ABL1', 't(4;22)  / ', 'BCR', 'ABL1', '15034867', '86', 'myeloproliferative disorder;chronic myeloid leukemia;myeloid leukemia;leukemia;B cell lymphoma;lymphoma\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Initial cytogenetic evaluation by interphase FISH for BCR-ABL, to rule out a translocation 9;22, showed a variant signal pattern consistent with rearrangement of BCR at 22q11.2, but not ABL at 9q34. '), ('760', 'TEC_TCF12', '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', 'TCF12', '12598313', '86', 'chondrosarcoma;liposarcoma;sarcoma\r\r', 'FISH ', 'Kinase', '', '', '', 'Transcription_Factor', '', '', '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). '), ('761', 'EWSR1_CREB1', '', 'EWSR1', 'CREB1', '25804255', '85', 'fibrous histiocytoma;histiocytoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', 'KB', '', '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. \"    ///    \"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). \"    ///    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. '), ('762', 'MYH11_CBFB', 'inv(16)(p13q22) / t(9;16)(p23;p13) / t(1;16)(p32;p13) / del(16)(q22) / inv(16) / inv(16)  / del(16)(p13p13) / ', 'MYH11', 'CBFB', '9598794', '85', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Reverse transcriptase-polymerase chain reaction (RT-PCR) and Southern blot analysis showed a CBFB-MYH11 fusion transcript and MYH11 rearrangement, respectively, in all three cases. '), ('763', 'CD38_CD19', 'del(13)(q14) / del(17)(p13) / ', 'CD38', 'CD19', '15949567', '85', 'chronic lymphocytic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'No apparent differences in distribution were noted for anomalies +12, del(13)(q14), or del(17)(p13) among patients with stable and progressive disease, and no consistent pattern in the distribution of type of genomic changes were found among various Rai stages and in CD38/CD19-positive or -negative patients.     ///    \"Statistical analyses were performed to correlate the molecular-cytogenetic findings with disease status (stable versus progressive), Rai stage, CD38/CD19 antigen coexpression, immunoglobulin variable heavy chain (IgV(H)) mutational pattern, and other clinical and laboratory parameters. \"'), ('764', 'PTC_RET', 't(2;3)(q13;p25) / ', 'PTC', 'RET', '17123335', '83', 'thyroid adenoma', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'Other fusion genes found in thyroid lesions are RET/PTC and PAX8/PPAR(gamma). '), ('765', 'EML4_ALK', '', 'EML4', 'ALK', '23856136', '83', 'mesothelioma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Fluorescence in situ hybridization (FISH) was performed to detect EML4-ALK gene rearrangement.     ///    \"Clinical and pathological data were collected, including age, gender, smoking status, treatment, response, and molecular biomarkers such as thymidylate synthetase (TS) expression, echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase (EML4-ALK) gene rearrangement.\"    ///    EML4-ALK gene rearrangement was studied in 32 patients and 6 (18.8%) were positive.     ///    \"Clinical and pathological data were collected, including age, gender, smoking status, treatment, response, and molecular biomarkers such as thymidylate synthetase (TS) expression, echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase (EML4-ALK) gene rearrangement. \"    ///    \"Correlation between TS expression or EML4-ALK rearrangement and outcome of pemetrexed-based chemotherapy for MPM may contribute to future individualized treatment, which needs further validation from large-scale prospective studies..\"    ///    \"Correlation between TS expression or EML4-ALK rearrangement and outcome of pemetrexed-based chemotherapy for MPM may contribute to future individualized treatment, which needs further validation from large-scale prospective studies.. \"'), ('766', 'KIF5B_RET', '', 'KIF5B', 'RET', '23342255', '83', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We investigated RET mRNA expression by real-time reverse-transcriptase polymerase chain reaction (RT-PCR) assay using LightCycler, and KIF5B/RET gene rearrangements using newly established fluorescence in situ hybridization (FISH) analysis in surgically treated nonsmall cell lung cancer (NSCLC) cases.    ///    \"We investigated RET mRNA expression by real-time reverse-transcriptase polymerase chain reaction (RT-PCR) assay using LightCycler, and KIF5B/RET gene rearrangements using newly established fluorescence in situ hybridization (FISH) analysis in surgically treated nonsmall cell lung cancer (NSCLC) cases. \"    ///    RET expression and detection of KIF5B/RET gene rearrangements in Japanese lung cancer..     ///    \"Although RET IHC positivity was not perfectly correlated with KIF5B/RET arrangement, we have detected the KIF5B/RET rearrangements using FISH analysis. \"    ///    \"Thus, we have successfully introduced FISH for diagnosing KIF5B/RET positive lung adenocarcinoma. \"    ///    \"T/N ratio of RET/? actin mRNA levels was significantly higher in KIF5B/RET rearrangement samples (161.763 ?? 123.488) than in wild-type samples (5.9013 ?? 17.148, P = 0.044). \"'), ('767', 'EML4_ALK', '', 'EML4', 'ALK', '26142544', '83', 'non small cell lung cancer;lung cancer\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Sixteen patients were detected with low copy numbers of EML4-ALK gene rearrangement, which failed to meet the positive cutoff point of FISH.     ///    \"Three variants (1, 2, and 3) of the EML4-ALK gene rearrangements were detected. \"    ///    Our study indicates that ddPCR can be used as a molecular analytical tool to accurately measure the EML4-ALK rearrangement copy numbers in FFPE samples of lung adenocarcinoma patients. '), ('768', 'PPARG_PAX8', 't(2;3)(q13;p25) / t(2;20;3) / p21;q11.2 / ', 'PPARG', 'PAX8', '17123335', '83', 'thyroid adenoma', 'FISH ', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Other fusion genes found in thyroid lesions are RET/PTC and PAX8/PPAR(gamma). '), ('769', 'BCR_ABL1', '', 'BCR', 'ABL1', '26819793', '83', 'leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Fluorescence in situ hybridization (FISH) of vitreous fluid detected BCR-ABL1 gene rearrangement. '), ('770', 'ETV1_ERG', '', 'ETV1', 'ERG', '20104229', '83', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', '', '', 'Our data suggest that FISH studies of PTEN gene loss and ERG/ETV1 gene rearrangements could be pursued for patient stratification, selection and hypothesis-generating subgroup analyses in future PCa clinical trials and potentially in patient management..     ///    We utilised fluorescence in situ hybridisation (FISH) assays to detect PTEN gene loss and ERG/ETV1 gene rearrangements in 308 conservatively managed PCa patients with survival outcome data.     ///     The discovery of ERG/ETV1 gene rearrangements and PTEN gene loss warrants investigation in a mechanism-based prognostic classification of prostate cancer (PCa).     ///    ERG/ETV1 gene rearrangements alone and PTEN gene loss alone both failed to show a link to survival in multivariate analyses.     ///    ERG/ETV1 gene rearrangements and PTEN gene loss status should now prospectively be incorporated into a predictive model to establish whether predictive performance is improved.     ///    \"However, there was a strong interaction between ERG/ETV1 gene rearrangements and PTEN gene loss (P<0.001). \"    ///    \"The largest subgroup of patients (54%), lacking both PTEN gene loss and ERG/ETV1 gene rearrangements comprised a \'good prognosis\' population exhibiting favourable cancer-specific survival (85.5% alive at 11 years). \"    ///    \"The presence of PTEN gene loss in the absence of ERG/ETV1 gene rearrangements identified a patient population (6%) with poorer cancer-specific survival that was highly significant (HR=4.87, P<0.001 in multivariate analysis, 13.7% survival at 11 years) when compared with the \'good prognosis\' group. \"    ///    The study objective was to evaluate the potential clinical significance and natural history of different disease categories by combining ERG/ETV1 gene rearrangements and PTEN gene loss status. '), ('771', 'SSX2_SS18', 'p11.2;q11.2 / ', 'SSX2', 'SS18', '15208645', '81', 'synovial sarcoma;sarcoma\r\r', 'FISH;PCR', '', '', '', '', '', 'KB', 'Seq', '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. '), ('772', 'MLL_AF10', 't(10;11)(p13;q14-q21) / ', 'MLL', 'AF10', '16956826', '81', '', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', '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.. '), ('773', 'MOZ_CBP', 't(8;16) / 16p13.3 / t(8;16)  / ', 'MOZ', 'CBP', '9447825', '81', 'leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'to date, only one in-frame CBP/MOZ fusion transcript has been reported. '), ('774', 'PHF1_EP400', '', 'PHF1', 'EP400', '22796436', '81', 'endometrial stromal tumor\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Further FISH, 5\'-rapid amplification of cDNA ends, and RT-PCR analyses disclosed an EP400/PHF1 fusion transcript in one of the cases. '), ('775', 'TEL_AML1', 't(1;12)(p32;p13) / ', 'TEL', 'AML1', '11952819', '79', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', ' Seventy uniformly treated children with acute lymphoblastic leukemia were analysed for chromosomal abnormalities with conventional G-banding, spectral karyotyping (SKY) and interphase fluorescent in situ hybridisation (FISH) using probes to detect MLL, BCR/ABL, TEL/AML1 rearrangements and INK4 locus deletions. '), ('776', 'FUS_CREB3L2', 't(7;16)  / ', 'FUS', 'CREB3L2', '20499220', '78', 'sarcoma\r\r', 'FISH', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Recently, a link has been suggested between SEF and low-grade fibromyxoid sarcoma (LGFMS) on the basis of the finding of the characteristic translocation t(7;16) (FUS-CREB3L2) of LGFMS in a small number of studied cases of SEF.     ///    \"Recently, a link has been suggested between SEF and low-grade fibromyxoid sarcoma (LGFMS) on the basis of the finding of the characteristic translocation t(7;16) (FUS-CREB3L2) of LGFMS in a small number of studied cases of SEF.\"'), ('777', 'MLL_AF10', 't(7;12) / t(1;22) / ', 'MLL', 'AF10', '12750700', '78', 'leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Subsequent FISH and reverse transcription-polymerase chain reaction analysis identified the MLL-AF10, MLL-AF4, or MLL-AF1q fusions that were produced by the cryptic rearrangements in four of the five patients. '), ('778', 'EWSR1_CREB1', '', 'EWSR1', 'CREB1', '24378390', '78', 'ewing sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', 'KB', '', 'Furthermore, the presence of identical gene fusions in completely different sarcoma types (i.e., EWSR1-ATF1, EWSR1-CREB1) or in non-mesenchymal malignancies (epithelial or haematological) has raised skepticism as to their diagnostic utility, and their lack of specificity has been compared to the limitations of other ancillary techniques, in particular immunohistochemistry. '), ('779', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '23370423', '78', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Rare reports of FISH-negative APL harboring cryptic rearrangements of PML-RARA detected by reverse transcriptase polymerase chain reaction or sequencing have been described.     ///    Modified array-based comparative genomic hybridization detects cryptic and variant PML-RARA rearrangements in acute promyelocytic leukemia lacking classic translocations..     ///    PML-RARA translocations were identified by tCGH in both cases providing confirmation of the diagnosis of APL.     ///    These data emphasize the benefit of using complementary molecular methods including tCGH for detecting cryptic and variant PML-RARA translocations in unusual cases of APL..     ///    \"Here, we describe the detection of cryptic or variant PML-RARA rearrangements by translocation-based comparative genomic hybridization (tCGH), a recently described modification of traditional CGH technology that facilitates the detection of balanced translocations by means of the linear amplification of a potential translocation breakpoint region(s), in 2 unusual cases of APL. \"'), ('780', 'EWSR1_ATF1', '', 'EWSR1', 'ATF1', '24378390', '78', 'ewing sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Furthermore, the presence of identical gene fusions in completely different sarcoma types (i.e., EWSR1-ATF1, EWSR1-CREB1) or in non-mesenchymal malignancies (epithelial or haematological) has raised skepticism as to their diagnostic utility, and their lack of specificity has been compared to the limitations of other ancillary techniques, in particular immunohistochemistry. '), ('781', 'MLL_MLLT11', 't(7;12) / t(1;22) / ', 'MLL', 'MLLT11', '12750700', '78', 'leukemia\r\r', 'FISH ', '', '', '', '', '', 'KB', '', 'Subsequent FISH and reverse transcription-polymerase chain reaction analysis identified the MLL-AF10, MLL-AF4, or MLL-AF1q fusions that were produced by the cryptic rearrangements in four of the five patients. '), ('782', 'CLTC_ALK', '', 'CLTC', 'ALK', '23588372', '77', 'B cell lymphoma;lymphoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'The gene fusion product and the transcription factor STAT3 are both phosphorylated, and thereby the pathogenetic mechanism of this case shows important analogies with that of NPM-ALK and CLTC-ALK lymphomas, in which STAT3 plays a central role in the lymphomagenesis.     ///    \" ALK-positive large B-cell lymphomas usually harbor clathrin (CLTC)-ALK rearrangement or, more rarely, nucleophosmin (NPM)-ALK fusion gene. \"'), ('783', 'TFE3_ASPL', '', 'TFE3', 'ASPL', '25984679', '77', 'renal cell carcinoma\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'Importantly, reverse transcriptase-PCR showed concordant results with the results of FISH assay in the 8 available frozen cases.The break-apart and ASPL-TFE3 dual-fusion FISH assay can accurately detect the translocation of the TFE3 gene and ASPL-TFE3 fusion gene and can thus serve as a valid complementary method for diagnosing Xp11.2 tRCC and ASPL-TFE3 RCC..     ///    Newly designed break-apart and ASPL-TFE3 dual-fusion FISH assay are useful in diagnosing Xp11.2 translocation renal cell carcinoma and ASPL-TFE3 renal cell carcinoma: a STARD-compliant article..     ///    \"To improve the accuracy of diagnosis of Xp11.2 tRCC and ASPL-TFE3 renal cell carcinoma (RCC), we investigated newly designed fluorescence in situ hybridization (FISH) probes (diagnostic accuracy study).Based on the genetic characteristics of Xp11.2 tRCC and the ASPL-TFE3 RCC, a new break-apart TFE3 FISH probe and an ASPL-TFE3 dual-fusion FISH probe were designed and applied to 65 patients with RCC who were <45 years old or showed suspicious microscopic features of Xp11.2 tRCC in our hospital. \"    ///    \"Twenty-two cases were confirmed as Xp11.2 tRCC by break-apart TFE3 FISH, and 6 of these cases were further diagnosed as ASPL-TFE3 RCC by ASPL-TFE3 dual-fusion FISH detection. \"'), ('784', 'NPM_ALK', '', 'NPM', 'ALK', '23588372', '77', 'B cell lymphoma;lymphoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'The gene fusion product and the transcription factor STAT3 are both phosphorylated, and thereby the pathogenetic mechanism of this case shows important analogies with that of NPM-ALK and CLTC-ALK lymphomas, in which STAT3 plays a central role in the lymphomagenesis. '), ('785', 'RARA_PML', 'del(20q)  / del(20)(q11.2) / ', 'RARA', 'PML', '23130347', '76', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Using FISH, other rearrangements such as BCR/ABL1, RUNX1/RUNX1T1, PML/RARA, CBFB/MYH11, and MLL were found to be negative. '), ('786', 'BCR_ABL1', 'del(20q)  / del(20)(q11.2) / ', 'BCR', 'ABL1', '23130347', '76', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Using FISH, other rearrangements such as BCR/ABL1, RUNX1/RUNX1T1, PML/RARA, CBFB/MYH11, and MLL were found to be negative. '), ('787', 'MYH11_CBFB', 'del(20q)  / del(20)(q11.2) / ', 'MYH11', 'CBFB', '23130347', '76', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH', '', '', '', '', '', '', '', 'Using FISH, other rearrangements such as BCR/ABL1, RUNX1/RUNX1T1, PML/RARA, CBFB/MYH11, and MLL were found to be negative. '), ('788', 'IGH_CEBPE', 't(13;14)(q21;q21) / ', 'IGH', 'CEBPE', '22137487', '76', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Fluorescence in situ hybridization (FISH) detected two CEBPE-IGH rearrangements at the dup(14).     ///    Double CEBPE-IGH rearrangement due to chromosome duplication and cryptic insertion in an adult with B-cell acute lymphoblastic leukemia..     ///    Our findings confirm that deregulated CEBPE plays a crucial role in the pathogenesis of CEBPE-IGH positive B-ALL..     ///    This case provides the first evidence that chromosome duplication and cryptic insertion produce the CEBPE-IGH fusion and that more than one CEBPE-IGH recombination can occur in a leukemic cell. '), ('789', 'BCR_ABL1', '', 'BCR', 'ABL1', '16284673', '76', '', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The incidence of both typical and atypical BCR/ ABL gene rearrangements was determined in 110 patients suspected of CML using dual fusion fluorescence in situ hybridisation (DF-FISH) probes. '), ('790', 'RUNX1T1_RUNX1', 'del(20q)  / del(20)(q11.2) / ', 'RUNX1T1', 'RUNX1', '23130347', '76', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Using FISH, other rearrangements such as BCR/ABL1, RUNX1/RUNX1T1, PML/RARA, CBFB/MYH11, and MLL were found to be negative. '), ('791', 'SYT_SSX4', 'p11.2;q11.2 / ', 'SYT', 'SSX4', '12037676', '75', 'testis cancer', 'FISH', '', '', '', '', '', '', '', 'Through this translation the SYT gene on chromosome 18 is fused with a testis/cancer antigen gene on the X chromosome, generating either a SYT-SSX1, SYT-SSX2, or less often a SYT-SSX4 fusion gene. '), ('792', 'EML4_ALK', '', 'EML4', 'ALK', '21921848', '75', 'lung cancer;adenocarcinoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' A subset of lung cancers harbors an EML4-ALK (echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase) gene fusion, and detecting this subset may hold therapeutic implications.     ///    We examined 15 lung adenocarcinomas with reverse-transcriptase polymerase chain reaction-proven EML4-ALK fusion transcripts and 30 ALK-negative cases. '), ('793', 'P16_P15', 't(3;9)(p14;p21) / ', 'P16', 'P15', '16271952', '75', 'breast cancer\r\r', 'FISH ', '', '', '', '', '', '', '', 'Array CGH and FISH analysis demonstrated that BAC 149i22, which contains the CDKN2A/B genes, is also deleted specifically on the apparently normal copy of chromosome 9, making MCF10A null for the p16/p15 genes. '), ('794', 'TEL_AML1', 't(1;19)  / t(9;22) / ', 'TEL', 'AML1', '18633615', '75', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'CC and RT-PCR for fusion genes BCR/ABL, MLL/AF4, E2A/PBX1, TEL/AML1 were performed at diagnosis in each patient.     ///    \"Moreover, FISH showed the percentage of TEL/AML1(+) cells that turned to be an important prognostic factor. \"    ///    It was also good for those with TEL/AML1 present in >or=80% of cells without chromosome aberrations.     ///    \"BCR/ABL was present in two cases, PBX1/E2A in two, and TEL/AML1 in 14. \"'), ('795', 'SRF_NCOA2', '', 'SRF', 'NCOA2', '26501226', '75', '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. '), ('796', 'TFE3_PSF', '', 'TFE3', 'PSF', '25651471', '75', '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. '), ('797', 'EML4_ALK', '', 'EML4', 'ALK', '25144242', '75', 'non small cell lung cancer;lung cancer\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Although EML4-ALK is reported to be formed by inversion of chromosome 2, other mechanisms of this gene fusion remain unknown.     ///    This study aimed to examine the mechanism of EML4-ALK rearrangement using a novel cell line with the EML4-ALK fusion gene.     ///    \"These observations provided the first evidence that EML4-ALK fusion in JFCR-LC649 cells was formed in chromosome 2 by a distinct mechanism of genomic rearrangement, termed chromothripsis. \"    ///    A novel mechanism of EML4-ALK rearrangement mediated by chromothripsis in a patient-derived cell line..     ///    Our results suggested that chromothripsis may be a mechanism of oncogenic rearrangement of EML4-ALK.     ///     EML4-ALK is a driver oncogene in non-small-cell lung cancer (NSCLC) and has been developed into a promising molecular target for antitumor agents. '), ('798', 'SLC45A3_ETV4', '', 'SLC45A3', 'ETV4', '23814484', '75', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', '', '', 'We additionally describe two novel gene fusion combinations of previously described genes, namely, SLC45A3-ETV4 and HERVK17-ETV4. '), ('799', 'FUS_CREB3L2', 't(7;16)(q33;p11) / ', 'FUS', 'CREB3L2', '15139001', '74', 'sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'To delineate the spectrum of tumors that may harbor the FUS/CREB3L2 gene, we selected 45 low-grade spindle cell sarcomas for reverse transcriptase polymerase chain reaction (RT-PCR) and/or fluorescence in situ hybridization (FISH) analyses.     ///    The results indicated that FUS/CREB3L2 is specifically associated with LGFMS and that RT-PCR or FISH analysis may be useful for the differential diagnosis..     ///    \"Of the 59 tumors analyzed, 12 were FUS/CREB3L2-positive, all of which were diagnosed at histopathologic re-examination as being LGFMS, of both the classical subtype and the subtype with giant collagen rosettes. \"    ///    The chimeric FUS/CREB3l2 gene is specific for low-grade fibromyxoid sarcoma.. '), ('800', 'ETV6_AML1', 'inv (16) / ', 'ETV6', 'AML1', '14559688', '74', '', '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. \"'), ('801', 'MLL_ALL1', 't(1;11) / t(2;11) / inv(11) / t(11;15) / t(10;11)  / ', 'MLL', 'ALL1', '11165319', '74', 'acute myeloid leukemia;non Hodgkin lymphoma;leukemia;lymphoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Restricted chromosome breakpoint sites on 11q22-q23.1 and 11q25 in various hematological malignancies without MLL/ALL-1 gene rearrangement..     ///    \" We analyzed 32 patients with various hematological malignancies including acute myelocytic leukemia and non-Hodgkin lymphoma with a breakpoint at 11q22-q25 of chromosome 11, but who did not have rearrangements of the MLL/ALL-1 gene. \"'), ('802', 'CALM_AF10', 't(10;11)(p13;q14) / ', 'CALM', 'AF10', '10637482', '74', 'acute myeloid leukemia;acute lymphoblastic leukemia;T ALL;myeloid leukemia;lymphoblastic leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Previous studies using mainly fluorescence in situ hybridization (FISH) analysis have shown that the CALM/AF10 rearrangement is found in immature acute myeloid leukemia (AML) of subtype M0 and M1 and in T cell ALL.     ///    \"Molecular analysis of the CALM/AF10 fusion: identical rearrangements in acute myeloid leukemia, acute lymphoblastic leukemia and malignant lymphoma patients.. \"    ///    These data demonstrate that the CALM/AF10 fusions found in patients differ only slightly with respect to the portion of AF10 present and that there is no obvious difference between the fusions found in AML patients compared to those found in patients with lymphoid malignancies.     ///    \"In this study we analyzed the CALM/AF10 and AF10/CALM fusion mRNAs in a series of three patients with AML, one patient with T-ALL and two patients with precusor T lymphoblastic lymphoma. \"'), ('803', 'FUS_ERG', '', 'FUS', 'ERG', '19737655', '73', 'neuroectodermal tumor', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'The use of FISH in combination with RT-PCR led to identification of a novel FUS-ERG fusion transcript in the tumor, with FUS exons 1-5 fused in-frame to ERG exons 6-9.     ///    \"The use of FISH in combination with RT-PCR led to identification of a novel FUS-ERG fusion transcript in the tumor, with FUS exons 1-5 fused in-frame to ERG exons 6-9.\"    ///    Ewing sarcoma-peripheral neuroectodermal tumor of the kidney with a FUS-ERG fusion transcript.. '), ('804', 'EWS_CREB1', 't(2;22)(q34;q12) / ', 'EWS', 'CREB1', '20598147', '71', 'ewing sarcoma;clear cell sarcoma;sarcoma\r\r', 'FISH;PCR', '', '', '', '', 'Transcription_Factor', '', '', 'Small blue round cell tumor of the interosseous membrane bearing a t(2;22)(q34;q12)/EWS-CREB1 translocation: a case report..     ///    \"After an extensive workup, the lesion is considered to represent a clear cell sarcoma harboring an EWSR1-CREB1 fusion transcript. \"'), ('805', 'NUP98_ANKRD28', 't(3;5;11)(p25;q35;p15) / t(3;5)(p25;q35) / ', 'NUP98', 'ANKRD28', '17988990', '71', 'myelodysplastic syndrome;leukemia;hematologic malignancy\r\r', 'FISH ', '', '', '', '', '', '', '', 'This translocation produces the expression of 2 in-frame fusion transcripts, the novel ANKRD28-NUP98 and NUP98-NSD1, and 1 out-of-frame NSD1-ANKRD28 transcript.     ///    \"ANKRD28-NUP98 was localized in the nucleolus and cytoplasm, whereas ANKRD28 and DeltaC-ANKRD28 were found exclusively in the cytoplasm. \"    ///    \"Transient overexpression of ANKRD28-NUP98 in NIH/3T3 cells, but not the C-terminal deletion mutant of ANKRD28 (DeltaC-ANKRD28), caused significantly increased focus formation compared with mock-transfectant controls. \"'), ('806', 'IGH_FGFR3', 'del(1p36)  / del(6q21) / ', 'IGH', 'FGFR3', '23673102', '71', 'multiple myeloma\r\r', 'FISH ', 'Kinase', '', '', '', '', '', '', 'With FISH, immunoglobulin heavy chain (IGH) gene rearrangements, especially fibroblast growth factor receptor 3 (FGFR3)/IGH and RB1 deletion/monosomy 13 were the most common abnormalities (43.4%). '), ('807', 'PRKCD_LAMTOR1', '', 'PRKCD', 'LAMTOR1', '24721208', '71', 'dermatofibroma;histiocytoma;ossifying fibroma', 'FISH;PCR;RT-PCR', 'Kinase', '', '', '', '', '', '', 'The detected PDPN-PRKCB, CD63-PRKCD and LAMTOR1-PRKCD gene fusions are all predicted to result in chimeric proteins consisting of the membrane-binding part of PDPN, CD63 or LAMTOR1 and the entire catalytic domain of the PKC. '), ('808', 'PRKCD_CD63', '', 'PRKCD', 'CD63', '24721208', '71', 'dermatofibroma;histiocytoma;ossifying fibroma', 'FISH;PCR;RT-PCR', 'Kinase', '', '', '', '', '', '', 'The detected PDPN-PRKCB, CD63-PRKCD and LAMTOR1-PRKCD gene fusions are all predicted to result in chimeric proteins consisting of the membrane-binding part of PDPN, CD63 or LAMTOR1 and the entire catalytic domain of the PKC. '), ('809', 'PAX3_FKHR', 't(2;13)(q35;q14) / t(1;13)(p36;q14) / ', 'PAX3', 'FKHR', '10063718', '70', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'The results indicate that the RT-PCR assay is a reliable method for the detection of the PAX3-FKHR fusion transcript of alveolar RMS in formalin-fixed, paraffin-embedded tissue.     ///    Detection of PAX3-FKHR and PAX7-FKHR fusion transcripts in rhabdomyosarcoma by reverse transcriptase-polymerase chain reaction using paraffin-embedded tissue..     ///    \"Oligonucleotide primers corresponding to the regions of PAX3, PAX7 and FKHR were used for the detection of PAX3-FKHR and PAX7-FKHR chimeric messages. \"    ///    The PAX3-FKHR chimeric message was detected in all three cases of alveolar RMS but not in any of the 12 embryonal and two pleomorphic RMS cases.     ///    \"We describe the results of RT-PCR analysis of PAX3-FKHR and PAX7-FKHR chimeric messages in formalin-fixed, paraffin-embedded tissue samples from 17 RMS cases. \"'), ('810', 'PAX7_FKHR', 't(2;13)(q35;q14) / t(1;13)(p36;q14) / ', 'PAX7', 'FKHR', '10063718', '70', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Detection of PAX3-FKHR and PAX7-FKHR fusion transcripts in rhabdomyosarcoma by reverse transcriptase-polymerase chain reaction using paraffin-embedded tissue..     ///    The PAX7-FKHR fusion transcript was detected in one case of embryonal RMS.     ///    \"Oligonucleotide primers corresponding to the regions of PAX3, PAX7 and FKHR were used for the detection of PAX3-FKHR and PAX7-FKHR chimeric messages. \"    ///    \"We describe the results of RT-PCR analysis of PAX3-FKHR and PAX7-FKHR chimeric messages in formalin-fixed, paraffin-embedded tissue samples from 17 RMS cases. \"'), ('811', 'MBTD1_CXORF67', 't(10;17)(q22;p13) / p11.2;q21.33 / ', 'MBTD1', 'CXORF67', '23959973', '70', 'uterine neoplasm', 'FISH ', '', '', '', '', '', 'KB', '', 'A specific FISH assay was developed to detect the novel t(X;17) translocation in formalin-fixed paraffin-embedded material, and resulted in identification of an additional low-grade ESS case positive for the MBTD1-CXorf67 fusion among 25 uterine stromal tumors [14 ESS and 11 undifferentiated endometrial sarcomas (UESs)] that were negative for JAZF1 and YWHAE rearrangements.     ///    \"A specific FISH assay was developed to detect the novel t(X;17) translocation in formalin-fixed paraffin-embedded material, and resulted in identification of an additional low-grade ESS case positive for the MBTD1-CXorf67 fusion among 25 uterine stromal tumors [14 ESS and 11 undifferentiated endometrial sarcomas (UESs)] that were negative for JAZF1 and YWHAE rearrangements.\"    ///    The presence of the MBTD1-CXorf67 fusion transcript was validated in both cases using reverse-transcription polymerase chain reaction followed by Sanger sequencing.     ///    Gene expression profiles of seven ESS (including three with YWHAE and two with JAZF1 rearrangements) and four UES without specific chromosomal aberrations indicated clustering of tumors with MBTD1-CXorf67 fusion together with low-grade JAZF1-associated ESS.     ///    \"Identification of a novel, recurrent MBTD1-CXorf67 fusion in low-grade endometrial stromal sarcoma.. \"    ///    The chimeric MBTD1-CXorf67 fusion identifies yet another cytogenetically distinct subgroup of low-grade ESS and offers the opportunity to shed light on the functions of two poorly characterized genes. '), ('812', 'MECT1_MAML2', '', 'MECT1', 'MAML2', '19578770', '70', 'mucoepidermoid carcinoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'In 37% of the analysed tumors a MAML2-rearrangement by interphase FISH was detected, whereas 58% of the samples showed expression of MECT1-MAML2 fusion transcript.     ///    \"Nineteen formalin-fixed, paraffin-embedded tumors were analysed by using comparative genomic hybridization (CGH), fluorescence in situ hybridization (FISH) on interphase nuclei and reverse transcriptase-polymerase chain reaction (RT-PCR) for detection of MECT1-MAML2 fusion transcript. \"    ///    \"Chromosomal imbalances, 11q21 rearrangement and MECT1-MAML2 fusion transcript in mucoepidermoid carcinomas of the salivary gland.. \"    ///    We conclude that the presence of MAML2-rearrangement as well as of MECT1-MAML2 fusion transcript may reflect a more favourable prognosis and may be a useful marker for clinical prediction of the biological behavior of these tumors as previously reported.. '), ('813', 'SSX1_SS18', 'p11;q11 / ', 'SSX1', 'SS18', '12696068', '70', 'synovial sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', '', 'KB', '', 'The three fusion genes that have been detected thus far, SS18/SSX1, SS18/SSX2, and SS18/SSX4, account for more than 95% of the synovial sarcomas. '), ('814', 'EWSR1_ERG', 't(11;22)(q24;q12) / t(1;21;7) / ', 'EWSR1', 'ERG', '20633768', '70', 'ewing sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'Reverse-transcriptase polymerase chain reaction analysis of RNA isolated from the tumor demonstrated a EWSR1-ERG fusion transcript, fusing exon 7 of EWSR1 and exon 11 of ERG.     ///    \"To our knowledge, this is the first report of a EWSR1-ERG fusion in an ES tumor with an apparently duplicated 5\' portion of EWSR1, and with a complex translocation involving chromosomes 1, 7, and 21. \"'), ('815', 'SSX4_SS18', 'p11;q11 / ', 'SSX4', 'SS18', '12696068', '70', 'synovial sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', '', 'KB', '', 'The three fusion genes that have been detected thus far, SS18/SSX1, SS18/SSX2, and SS18/SSX4, account for more than 95% of the synovial sarcomas. '), ('816', 'SSX2_SS18', 'p11;q11 / ', 'SSX2', 'SS18', '12696068', '70', 'synovial sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', '', 'KB', 'Seq', 'The three fusion genes that have been detected thus far, SS18/SSX1, SS18/SSX2, and SS18/SSX4, account for more than 95% of the synovial sarcomas. '), ('817', 'SSX_SS18', '', 'SSX', 'SS18', '17334349', '70', 'mesothelioma;synovial sarcoma', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Detection of SS18-SSX fusion transcripts in formalin-fixed paraffin-embedded neoplasms: analysis of conventional RT-PCR, qRT-PCR and dual color FISH as diagnostic tools for synovial sarcoma..     ///    \"SS18-SSX fusion products were found in 126 (96%) cases (74 SS18-SSX1, 52 SS18-SSX2), using quantitative and 120 by conventional reverse transcriptase-polymerase chain reaction (RT-PCR). \"'), ('818', 'ETV6_ACS2', 't(5;12)(q31;p13) / t(12;19)  / ', 'ETV6', 'ACS2', '10502316', '69', 'acute eosinophilic leukemia', 'FISH ', '', '', '', '', '', '', '', 'The resulting ETV6/ACS2 fusion transcripts showed an out-frame fusion of exon 1 of ETV6 to exon 1 of ACS2 in the AEL case, an out-frame fusion of exon 1 of ETV6 to exon 11 of ACS2 in the AML case, and a short in-frame fusion of ETV6 exon 1 to the 3\' untranslated region of ACS2 in the RAEB case.     ///    Reciprocal ACS2/ETV6 transcripts were identified in two of the cases.     ///    None of the resulting chimeric transcripts except for the ACS2/ETV6 transcript in the RAEB case led to a fusion protein. '), ('819', 'MLL_AFF1', 't(4;11)(q21;q23) / ', 'MLL', 'AFF1', '20633769', '69', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'However, subsequent reverse transcriptase-polymerase chain reaction for the expected mixed lineage leukemia [trithorax homolog, Drosophila] (MLL)-AFF1 fusion transcript was negative.     ///    A translocation in acute lymphoblastic leukemia that cytogenetically mimics the recurrent MLL-AFF1 translocation and fuses SEPT11 to MLL.. '), ('820', 'MLLT10_MLL', 'p36;q11 / ', 'MLLT10', 'MLL', '19380030', '68', 'leukemia\r\r', 'FISH;PCR ', '', '', '', '', '', 'KB', '', 'Panhandle polymerase chain reaction (PCR) using cDNA demonstrated the formation of an MLL-MLLT10 fusion transcript, although the 10p12 segment, at which the MLLT10 gene is located, was not involved in the breakpoint of the four-way translocation according to G-banding and spectral karyotyping analyses. '), ('821', 'RARA_PML', 't(5;14)(q33;q32) / ', 'RARA', 'PML', '25606057', '68', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Break-apart FISH analysis demonstrated that rearrangement of PDGFRB at 5q33 was positive in 460 of 500 cells analyzed, while the PML-RARA rearrangement remained undetectable by RT-PCR. '), ('822', 'TFE3_SFPQ', '', 'TFE3', 'SFPQ', '26975036', '68', 'renal cell carcinoma;alveolar soft part sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', '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.     ///    \"Similar subnuclear vacuolization was also characteristic of SFPQ-TFE3 RCC, creating overlapping features with clear cell papillary RCC. \"'), ('823', 'NFIB_MYB', 't(6;9)  / ', 'NFIB', 'MYB', '25963073', '68', 'adenoid cystic carcinoma\r\r', 'FISH ', '', '', '', '', '', 'KB', '', 'Fluorescence in situ hybridization (FISH) was used to detect MYB rearrangement in archival tumor tissue as a marker of MYB-NFIB fusion.     ///    \"MYB-NFIB positive tumors were more likely than MYB-NFIB negative tumors to originate in minor salivary glands (adjusted prevalence ratios?=?1.51, 95% CI?=?1.07-2.12, P = 0.019). \"    ///    \"MYB-NFIB tumor status was not significantly associated with disease-free or overall survival (hazard ratio [HR]?=?1.53, 95% CI?=?0.77-3.02, P = 0.22 and HR?=?0.91, 95% CI?=?0.46-1.83, P = 0.80, respectively, for MYB-NFIB positive compared with MYB-NFIB negative tumors). \"    ///    \"Tumors with evidence of MYB-NFIB fusion were more likely to originate in minor salivary glands, but MYB-NFIB tumor status was not significantly associated with prognosis. \"    ///    The purposes of this study were to describe the clinicopathologic factors impacting survival and to determine the prevalence and clinical significance of MYB-NFIB fusion. '), ('824', 'TFE3_ASPL', '', 'TFE3', 'ASPL', '23224603', '67', '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. '), ('825', 'TFE3_CLTC', '', 'TFE3', 'CLTC', '23224603', '67', 'perivascular epithelioid cell tumors', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', '', '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. '), ('826', 'TFE3_PRCC', '', 'TFE3', 'PRCC', '23224603', '67', 'perivascular epithelioid cell tumors', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', '', '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. '), ('827', 'CLTC_ALK', 't(2;17)(p23;q23) / ', 'CLTC', 'ALK', '12750159', '65', 'anaplastic large cell lymphoma;B cell lymphoma;lymphoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Fluorescent in situ hybridization (FISH) and molecular studies led to the detection of a CLTC-ALK rearrangement in all 3 cases, without any evidence of full-length ALK receptor expression.     ///    \"Although a similar CLTC-ALK aberration was previously identified in ALK-positive T-/null cell ALCL and inflammatory myofibroblastic tumor, its association with ALK-positive LBCL seems to be specific and intriguing.. \"    ///    \"Although a similar CLTC-ALK aberration was previously identified in ALK-positive T-/null cell ALCL and inflammatory myofibroblastic tumor, its association with ALK-positive LBCL seems to be specific and intriguing..\"    ///    ALK activation by the CLTC-ALK fusion is a recurrent event in large B-cell lymphoma.. '), ('828', 'EWS_CREB1', 't(12;22)  / ', 'EWS', 'CREB1', '17000668', '65', 'clear cell sarcoma;sarcoma\r\r', 'FISH;PCR ', '', '', '', '', 'Transcription_Factor', '', '', 'All three cases contained an identical EWS-CREB1 fusion transcript that was shown by reverse transcription-PCR.     ///    \"In two of the cases tested, EWS gene rearrangement was also confirmed by fluorescence in situ hybridization and the EWS-CREB1 genomic junction fragments were isolated by long-range DNA PCR. \"    ///    EWS-CREB1 may define a novel subset of CCS that occurs preferentially in the gastrointestinal tract and shows little or no melanocytic differentiation.     ///    EWS-CREB1: a recurrent variant fusion in clear cell sarcoma--association with gastrointestinal location and absence of melanocytic differentiation.. '), ('829', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '9491326', '65', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', ' The 8;21 translocation in acute myeloid leukemia (AML) results in a consistent fusion transcript, AML1/ETO.     ///    \"Long-term clinical remission occurs in some patients despite incomplete eradication of AML1/ETO as demonstrated by RT-PCR, thus limiting the usefulness of this assay. \"'), ('830', 'SSX_SS18', 'p11.2;q11.2 / ', 'SSX', 'SS18', '22976541', '65', 'synovial sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Recurrent and novel SS18-SSX fusion transcripts in synovial sarcoma: description of three new cases..     ///    \"In a typical SS18-SSX fusion transcript, exon 10 of SS18 is fused to exon 6 of SSX1/2. \"'), ('831', 'RARA_PML', 't(15;17) / ', 'RARA', 'PML', '23607089', '65', '', 'FISH', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Given the need for rapid diagnosis of APL, it is important to be aware of the false negative rate for large PML/RARA FISH probes in the setting of masked rearrangements.. '), ('832', 'ETO_AML1', '', 'ETO', 'AML1', '19893343', '65', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', 'FISH', '', '', '', '', '', '', '', 'For acute myeloid leukemia profile test, probes for AML1/ETO, MLL and CBFbeta gene rearrangement were used. '), ('833', 'ETO_CDR', 't(7;11) / t(8;21)  / t(8;14;21)(q22-q24;q11;q22) / ', 'ETO', 'CDR', '9169032', '64', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Moreover , double color FISH using ETO-CDR P1 probe and a cosmid for the 5\' part of AML-1 on chromosome 21 showed a two color signal on the 8q-, suggesting a recombination between ETO and AML 1. '), ('834', 'BCR_ABL1', 't(9;22) / ', 'BCR', 'ABL1', '26030620', '64', 'chronic myeloid leukemia', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'At six-month follow-up, a repeat karyotype was again normal, though FISH analysis was positive for BCR/ABL1 fusion.     ///    \"We present a case of a cryptic BCR/ABL1 fusion, which was not originally detected by standard karyotyping. \"'), ('835', 'BCR_ABL1', 't(9;22)  / t(15;17)  / t(15;17) / ', 'BCR', 'ABL1', '11750052', '64', 'chronic myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The efficiency of technique in molecular diagnosis was also proved in one of the CML patients who progressed to myeloid blastic phase where interphase FISH could identify an extra BCR-ABL fusion on both chromosomes 9 indicating insertion of BCR into ABL and its duplication.. '), ('836', 'TRAF1_ALK', '', 'TRAF1', 'ALK', '25501114', '64', 'acute myeloid leukemia;anaplastic large cell lymphoma;myeloid leukemia;leukemia;lymphoma\r\r', 'FISH;PCR ', 'Kinase', 'Oncogene', '', '', '', '', '', 'ATIC is the second most common partner of variant ALK rearrangements, while the TRAF1-ALK fusion gene was first reported in 2013, and this is the second reported case of ALK(+) ALCL carrying TRAF1-ALK.     ///    We subsequently confirmed ATIC-ALK and TRAF1-ALK fusions by reverse transcriptase PCR and nucleotide sequencing. '), ('837', 'RARA_PML', 't(9;22)  / t(15;17)  / t(15;17) / ', 'RARA', 'PML', '11750052', '64', 'chronic myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'In these patients FISH could efficiently detect 1-14.5% of residual cells with PML-RARA (patients mean MRD 5%, controls mean MRD 3.5%, P=.02).     ///    \"On the contrary, 5 of 7 patients with either absence or low percentage of PML-RARA positive cells remained in complete remission for 11-24 months. \"'), ('838', 'IGH_CCND1', 't(12;14)(p13;q32) / p13;q32 / t(11;14)(q13;q32) / del(9p21) / ', 'IGH', 'CCND1', '26261659', '64', 'chronic lymphocytic leukemia;leukemia;mantle cell lymphoma;lymphoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Fluorescence in situ hybridization (FISH) using IGH-CCND1 probe was negative for CCND1 abnormality, but demonstrated IGH breakapart signals. ');
INSERT INTO `ChimerPub_dump` VALUES ('839', 'RARA_PML', 't(15;17)(q22;q12) / t(15;17)  / t(15;17) / ', 'RARA', 'PML', '9792295', '64', '', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Morphologically identified myeloblasts were relocated on the smear after FISH and were found to be PML/RARA positive in 91%, abnormal promyelocytes in 97%.     ///    HLA-DR-positive cells contained a PML/RARA rearrangement in 24% of cells in one case and were negative in the two other cases investigated.     ///    \"Erythroblasts, lymphocytes and plasma cells did not show a PML/RARA rearrangement. \"    ///    \"Accordingly, all cells expressing CD3 or CD19 were PML/RARA negative. \"    ///    CD34 positive precursor cells identified by FICTION were PML/RARA positive in 97%.     ///    The low proportion of PML/RARA-positive PMN points to the impairment of blast cell differentiation beyond the promyelocyte stage but also emphasizes the existence of normal residual haemopoietic stem cells from which PML/RARA-negative PMN must be derived.. '), ('840', 'TEL_AML1', '', 'TEL', 'AML1', '15716599', '63', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Among the gene rearrangements detected by FISH, the most common gene rearrangement was p16 deletion (20.3%) and the incidences of others were 14.1% for TEL/AML1, 11.3% for MLL, and 1.8% for BCR/ABL translocations.     ///    \"We performed G-banding analysis and FISH using probes for BCR/ABL, MLL, TEL/AML1 rearrangements, and p16 deletions on 65 childhood ALL patients diagnosed and uniformly treated at a single hospital. \"    ///    \" The aims of this study were to estimate the incidences of BCR/ABL, MLL, TEL/AML1 rearrangements, and p16 deletions in childhood acute lymphoblastic leukemia (ALL), to identify new abnormalities, and to demonstrate the usefulness of interphase fluorescence in situ hybridization (FISH). \"    ///    \"Infrequent or new aberrations such as AML1 amplification, MLL deletion, ABL deletion, and TEL/AML1 fusion with AML1 deletion were also observed. \"'), ('841', 'SNRPN_PML', 't(15;22)  / t(15;22) / ', 'SNRPN', 'PML', '11164193', '63', 'Prader Willi syndrome\r\r', 'FISH', '', 'Oncogene', '', '', '', '', '', 'Investigations with FISH utilised ten different probes/combinations, namely SNRPN/PML, TUPLE1/22q13.3, TUPLE/ARSA, GABRB3, three YAC clones and one cosmid for specific regions within chromosome 15q, painting probes for the long arm of chromosomes 15 and 22 and a pantelomere probe. '), ('842', 'YAP1_TFE3', 't(1;3)  / ', 'YAP1', 'TFE3', '23737213', '63', 'sarcoma;epithelioid hemangioendothelioma;epithelioid hemangioendothelioma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', '', '', 'A YAP1-TFE3 fusion was thus detected, which was further validated by FISH and reverse transcription polymerase chain reaction (RT-PCR).     ///    \"In summary, we are reporting a novel subset of EHE occurring in young adults, showing a distinct phenotype and YAP1-TFE3 fusions.. \"    ///    Novel YAP1-TFE3 fusion defines a distinct subset of epithelioid hemangioendothelioma.. '), ('843', 'ETV6_CBFA2', 't(12;21)  / t(12;21)(p13;q22) / t(12;21) / ', 'ETV6', 'CBFA2', '10870481', '63', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Fifty-three patients were screened for ETV6/CBFA2 fusion by means of FISH, using two cosmid probes mapped on ETV6 and on CBFA2, respectively. '), ('844', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23701505', '62', 'prostate cancer\r\r', 'FISH', '', '', '', '', '', 'KB', 'Seq', ' To study prostate cancer zonal differences in TMPRSS2-ERG gene rearrangement.     ///    TMPRSS2-ERG FISH and ERG protein immunohistochemistry were performed on tissue microarrays.     ///    TMPRSS2-ERG rearrangement in dominant anterior prostatic tumours: incidence and correlation with ERG immunohistochemistry.    ///    ERG immunohistochemistry demonstrated excellent sensitivity (86%) and specificity (96%) for TMPRSS2-ERG rearrangement.    ///    ERG immunohistochemistry demonstrated excellent sensitivity (86%) and specificity (96%) for TMPRSS2-ERG rearrangement.     ///    \"TMPRSS2-ERG rearrangement occurs in dominant TZ and anterior PZ prostate cancers, with all rearranged TZ cancers in this cohort showing deletion. \"    ///    TMPRSS2-ERG rearrangement in dominant anterior prostatic tumours: incidence and correlation with ERG immunohistochemistry.. '), ('845', 'NFIB_MYB', '17p13.3 / ', 'NFIB', 'MYB', '23725736', '62', 'adenoid cystic carcinoma\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', '', 'KB', '', 'The expression and identity of MYB-NFIB fusion transcripts were studied using reverse transcriptase polymerase chain reaction (RT-PCR) and nucleotide sequence analyses.     ///    \" To investigate genetic alterations in lacrimal gland adenoid cystic carcinomas (ACCs) with emphasis on the MYB-NFIB fusion oncogene and its downstream targets, MYB rearrangements, and copy number alterations in relation to clinical data and survival. \"    ///    \"mRNA or protein expression of MYB-NFIB, MYB, and its down stream targets. \"    ///    \"As a control, we also studied the expression of MYB-NFIB in 19 non-ACC lacrimal gland tumors. \"    ///    Our findings show that lacrimal gland ACCs are genetically and clinically similar to their salivary gland counterparts and that MYB-NFIB is a clinically useful diagnostic biomarker for ACC.     ///    Quantitative polymerase chain reaction (PCR) and immunohistochemistry were used to evaluate the expression of MYB/MYB-NFIB target genes.     ///    The MYB-NFIB fusion was expressed in 7 of 14 ACCs.     ///    Neither MYB-NFIB fusion nor any copy number alteration correlated with survival.     ///    \"Lacrimal gland ACCs are frequently positive for the MYB-NFIB fusion, overexpress MYB and its downstream targets, and have genomic profiles characterized by losses involving 6q, 12q, and 17p, and gains involving 19q, 8q, and 11q. \"'), ('846', 'MLL_EPS15', '', 'MLL', 'EPS15', '21900057', '62', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR', '', '', '', '', '', 'KB', '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.     ///    \"Splicing fusion genes were found in three patients, leading to a MLL/EPS15 fusion in two and a MLL/ELL fusion in a third patient. \"'), ('847', 'MLL_ELL', '', 'MLL', 'ELL', '21900057', '62', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR', '', '', '', '', '', 'KB', '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.     ///    \"Splicing fusion genes were found in three patients, leading to a MLL/EPS15 fusion in two and a MLL/ELL fusion in a third patient. \"'), ('848', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '25591593', '62', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', ' This study investigated differences in prevalence of the androgen-regulated transmembrane protease serine 2 (TMPRSS2) and ETS transcription factor family member, v-ets erythroblastosis virus E26 oncogene homolog (ERG) fusion gene (TMPRSS2-ERG fusions) in clinically localized prostate cancer Japanese and German patients. '), ('849', 'RARA_PML', 't(15;17)  / t(15;17) / ', 'RARA', 'PML', '15036889', '62', 'acute myeloid leukemia;acute promyelocytic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'however, a promyelocytic leukemia-retinoic acid receptor alpha (PML/RARA) fusion transcript of the bcr3-type was detected with reverse transcriptase-polymerase chain reaction analysis, and a single PML/RARA fusion signal was observed with fluorescence in situ hybridization analysis. '), ('850', 'KIF5B_ALK', '', 'KIF5B', 'ALK', '26142544', '62', 'non small cell lung cancer;lung cancer\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The case missed by ddPCR was identified as KIF5B-ALK gene rearrangement by PCR-based direct sequencing. '), ('851', 'MLLT6_MLL', '', 'MLLT6', 'MLL', '21900057', '62', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR', '', '', '', '', '', '', '', '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. '), ('852', 'EML4_ALK', '', 'EML4', 'ALK', '24156086', '62', 'inflammatory breast carcinoma', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'FISH analysis showed no EML4-ALK gene rearrangement in any samples, although 16 of the 25 samples (64%) contained 3 to 4 extra copies of the ALK gene, and chromosome 2 aneusomy was found in 7 of 8 samples that had extra copies of the ALK gene. '), ('853', 'MYC_BCL2', 't(14;18)(q32;q21) / ', 'MYC', 'BCL2', '25828389', '61', 'B cell lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' MYC/BCL2 double-hit lymphoma (DHL), defined by conventional cytogenetic or fluorescence in situ hybridization (FISH) analysis, and MYC/BCL2 double-positive lymphoma (DPL), defined by immunohistochemistry, are associated with a poor prognosis.     ///    MYC cytogenetic status correlates with expression and has prognostic significance in patients with MYC/BCL2 protein double-positive diffuse large B-cell lymphoma.. '), ('854', 'MYC_IGH', 't(8;14) / t(8;14)  / ', 'MYC', 'IGH', '23369149', '61', 'chronic lymphocytic leukemia;leukemia\r\r', 'FISH', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Such translocation typically results in a MYC-IGH@ fusion subsequently deregulating and overexpressing MYC on der 14q32. '), ('855', 'ETO_AML1', '', 'ETO', 'AML1', '16875580', '61', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'q22), which was confirmed by interphase and metaphase FISH and AML1/ETO fusion transcript was detected by RT-PCR.     ///    The complex translocation was assayed by fluorescence in situ hybridization (FISH) with a dual-color AML1/ETO-specific probe.     ///    AML1/ETO chimeric transcript was detected by reverse transcription polymerase chain reaction (RT-PCR). '), ('856', 'LIT1_IC2', 't(11;21)(p15.4;q22.3) / t(4;11)(p16.3;p15.4) / ', 'LIT1', 'IC2', '16882733', '60', 'Beckwith Wiedemann syndrome\r\r', 'FISH ', '', '', '', '', '', '', '', 'The duplicated region involves only IC1 and spares IC2/LIT1, as shown by fluorescent in situ hybridisation (FISH) mapping of the proximal duplication breakpoint within the amino-terminal part of KvLQT1. '), ('857', 'TMPRSS2_ERG', '7p21.2 / ', 'TMPRSS2', 'ERG', '16951139', '60', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'In the current study using fluorescence in situ hybridization (FISH), we identified the TMPRSS2:ERG rearrangements in 49.2% of 118 primary prostate cancers and 41.2% of 18 hormone-naive lymph node metastases.     ///    The FISH assay detected intronic deletions between ERG and TMPRSS2 resulting in TMPRSS2:ERG fusion in 60.3% (35 of 58) of the primary TMPRSS2:ERG prostate cancers and 42.9% (3 of 7) of the TMPRSS2:ERG hormone-naive lymph node metastases.     ///    The deletion as cause of TMPRSS2:ERG fusion is associated with clinical features for prostate cancer progression compared with tumors that lack the TMPRSS2:ERG rearrangement..     ///    A significant association was observed between TMPRSS2:ERG rearranged tumors through deletions and higher tumor stage and the presence of metastatic disease involving pelvic lymph nodes.     ///    This study confirms that TMPRSS2:ERG is fused in approximately half of the prostate cancers through deletion of genomic DNA between ERG and TMPRSS2. '), ('858', 'SSX_SS18', 'p11.2;q11.2 / ', 'SSX', 'SS18', '15208645', '60', 'synovial sarcoma;sarcoma\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'The SS18-SSX fusions do not seem to occur in other tumor types, and it has been shown that in synovial sarcoma a clear correlation exists between the type of fusion gene and histologic subtype and, more importantly, clinical outcome.     ///    A novel FISH assay for SS18-SSX fusion type in synovial sarcoma.. '), ('859', 'PAX3_FOXO1', '', 'PAX3', 'FOXO1', '25912319', '60', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH;PCR', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'All solid variant ARMS harbored FOXO1 gene rearrangements and PAX3-FOXO1 ARMS were detected to the exclusion of PAX7-FOXO1.     ///    \"In 24 histologic ARMS tested for FISH or PCR, 83.3 % were translocation-positive (all for PAX3-FOXO1 by PCR) and included 3 histologic solid variants. \"'), ('860', 'FGF6_LOC660037', '12p13.1 / t(4;12) / 12p13.3 / ', 'FGF6', 'LOC660037', '7835081', '60', '', 'FISH ', '', '', '', '', '', '', '', 'Using two-color FISH with three labeled probes to interphase nuclei, and to prometaphase chromosomes where possible, the order of these loci was sequentially determined to be pter-D12S158-D12S380E-CACNL1A1-FGF6- D12S370-VWF-GAPD-TPI1-A2M-PZP-PRB1-D12S 178-D12S119-KRAS2-cen. '), ('861', 'SYT_SSX', '', 'SYT', 'SSX', '18262374', '60', 'synovial sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'The SYT-SSX fusion gene from chromosomal translocation was detected by fluorescence in situ hybridization in this case.. '), ('862', 'P12_P11', 't(8;8)(p11;q12) / ', 'P12', 'P11', '11063795', '60', 'leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Those with idic(8)(p11) and add(8)(p11) were probed with a panel of contiguous YACs derived from 8p11-p12 using fluorescence in situ hybridization (FISH). '), ('863', 'CLTC_ALK', 't(2;17)(p23;q23) / ', 'CLTC', 'ALK', '19521280', '60', 'B cell lymphoma;lymphoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'While reports show detection of the unique CLTC-ALK fusion by either reverse transcription-polymerase chain reaction or fluorescence in situ hybridization, our case represents the second case in the literature to detect the t(2;17)(p23;q23) translocation by multiplex karyotyping (multiplex fluorescence in situ hybridization) and the usefulness of this technique to detect hidden translocations not seen by G-banding. '), ('864', 'FGF6_LTBR', '12p13.1 / t(4;12) / 12p13.3 / ', 'FGF6', 'LTBR', '7835081', '60', '', 'FISH ', '', '', '', '', '', '', '', 'Using two-color FISH with three labeled probes to interphase nuclei, and to prometaphase chromosomes where possible, the order of these loci was sequentially determined to be pter-D12S158-D12S380E-CACNL1A1-FGF6- D12S370-VWF-GAPD-TPI1-A2M-PZP-PRB1-D12S 178-D12S119-KRAS2-cen. '), ('865', 'SPTBN1_ALK', '', 'SPTBN1', 'ALK', '26678488', '59', 'colorectal cancer;gastric cancer;lung cancer;esophageal cancer\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'The novel SPTBN1 -ALK fusion, together with other ALK fusion genes, may become a potential target for anti-ALK therapy.. '), ('866', 'BCR_ABL1', 't(9;22) / ', 'BCR', 'ABL1', '22137489', '59', 'hematologic malignancy', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Of special note, fluorescence in situ hybridization (FISH) analysis for this constitutional translocation (9;22)(q34;q11.2) using standard probes for BCR and ABL1 resulted in an abnormal pattern that was potentially misinterpretable as a BCR-ABL1 fusion. '), ('867', 'MALT1_IGH', 't(14;18)(q32;q21) / ', 'MALT1', 'IGH', '16630178', '59', 'MALT lymphoma;B cell lymphoma;lymphoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'We performed paraffin section interphase fluorescence in situ hybridization (FISH) analysis using MALT1 and IGH break-apart probes on 16 cutaneous MALT lymphomas and 16 primary cutaneous DLBCL in order to assess the frequency of IGH/MALT1 translocations and to screen for other potential translocations involving the IGH or MALT1 loci. '), ('868', 'MLL_ENL', '', 'MLL', 'ENL', '17490513', '59', 'leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Among 5 B-ALL patients, 2 patients were confirmed to express MLL/ENL, 1 patient was confirmed to express MLL/AF(4), the other 2 patients did not express the fusion genes. '), ('869', 'ETO_AML1', 't(8;19)(q22;q13) / t(8;21)  / t(3;8)(q29;q22) / t(8;11)(q22;q13) / t(8;16)(q22;q24) / t(8;20)(q22;p13) / t(8;22)  / del(9)(q12q22) / t(8;21) / t(8;19)  / ', 'ETO', 'AML1', '10748298', '58', 'leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Reverse transcriptase-polymerase chain reaction study revealed no AML1/ETO fusion transcript in case 2. '), ('870', 'SYT_SSX1', 't(17;22)(q12;q12) / p11.2;q11.2 / ', 'SYT', 'SSX1', '12377409', '58', 'synovial sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'The SYT-SSX1 fusion transcript was demonstrated in the primary and recurrent tumors using a reverse transcriptase polymerase chain reaction (RT-PCR). '), ('871', 'MLL_AF10', '', 'MLL', 'AF10', '12810254', '58', 'acute myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Five different mechanisms of (10;11) rearrangements leading to a MLL-AF10 fusion transcript can be observed (i.e., reciprocal translocations, insertions of either 10p into 11q or 11q into 10p, as well as complex and cryptic rearrangements).     ///    A simple reciprocal translocation cannot lead to the known MLL-AF10 fusion transcript because the 3\' part of the MLL gene is orientated to the telomere and the 3\' part of the AF10 gene to the centromere.     ///    \"In a series of 1897 AML samples, 14 cases (0.74%) showed 10;11 rearrangements leading to a MLL-AF10 fusion transcript. \"    ///    \"Compared to translocations involving MLL and other partner genes, complex rearrangements are unique for MLL-AF10 fusions. \"    ///    \"Cytogenetics, fluorescence in situ hybridization, and reverse transcriptase polymerase chain reaction are necessary to clarify the various mechanisms leading to an MLL-AF10 fusion in acute myelocytic leukemia with 10;11 rearrangement.. \"'), ('872', 'MYH11_CBFB', 'inv(16)  / t(16;16)  / inv(16) / ', 'MYH11', 'CBFB', '10214358', '58', 'leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Molecular analysis of BM cells using RT-PCR identified a CBFB-MYH11 fusion transcript type D. '), ('873', 'DEK_CAN', '', 'DEK', 'CAN', '22886961', '58', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', '', 'The results showed that except unqualified samples, fusion genes were detected by multiplex RT-PCR in 211 of 474 patients (44.51%), including AML1-ETO, CBF?-MYH11, PML-RAR?, PLZF-RAR?, NPM-RAR?, MLL rearrangements, BCR-ABL, DEK-CAN, SET-CAN, TEL-PDGFR, TLS-ERG, AML1-MDS1 (EVI-1). '), ('874', 'SET_CAN', '', 'SET', 'CAN', '22886961', '58', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', '', 'The results showed that except unqualified samples, fusion genes were detected by multiplex RT-PCR in 211 of 474 patients (44.51%), including AML1-ETO, CBF?-MYH11, PML-RAR?, PLZF-RAR?, NPM-RAR?, MLL rearrangements, BCR-ABL, DEK-CAN, SET-CAN, TEL-PDGFR, TLS-ERG, AML1-MDS1 (EVI-1). '), ('875', 'KMT2A_ALK', '', 'KMT2A', 'ALK', '24813172', '58', 'leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'We analyzed a series of seven ALK rearranged cancers, six KMT2A rearranged leukemias, and 77 ALK/KMT2A rearrangement-negative cancers, previously tested by fluorescence in situ hybridization (FISH).     ///    \"Among the 77 ALK/KMT2A FISH-negative cases, no false-positive identifications were made by Breakdancer or ClusterFAST. \"'), ('876', 'VGLL2_CITED2', '', 'VGLL2', 'CITED2', '26501226', '58', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', '', '', 'Ten of the 11 congenital/infantile SRMS showed recurrent fusion genes: with novel VGLL2 rearrangements seen in 7 (63%), including VGLL2-CITED2 fusion in 4 and VGLL2-NCOA2 in 2 cases. '), ('877', 'HIP1_ALK', 't(2;7) / p23;q11.23 / ', 'HIP1', 'ALK', '24518094', '58', 'non small cell lung cancer;adenocarcinoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'In this article, we report a novel fusion gene huntingtin interacting protein 1 (HIP1)-ALK, which is conjoined between the huntingtin-interacting protein 1 gene HIP1 and ALK. '), ('878', 'ETO_AML1', 't(8;21)  / t(8;21)(q22;q22) / t(8;12;21) / p13;q22 / ', 'ETO', 'AML1', '15571799', '58', '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 transcript.     ///    \"Using a dual-color fluorescence in situ hybridization (FISH) analysis with ETO and AML1 probes, we demonstrated an ETO/AML1 fusion signal on the derivative chromosome 8. \"'), ('879', 'ETO_AML1', '', 'ETO', 'AML1', '22886961', '58', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', '', 'The results showed that except unqualified samples, fusion genes were detected by multiplex RT-PCR in 211 of 474 patients (44.51%), including AML1-ETO, CBF?-MYH11, PML-RAR?, PLZF-RAR?, NPM-RAR?, MLL rearrangements, BCR-ABL, DEK-CAN, SET-CAN, TEL-PDGFR, TLS-ERG, AML1-MDS1 (EVI-1). '), ('880', 'VGLL2_NCOA2', '', 'VGLL2', 'NCOA2', '26501226', '58', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', '', '', 'Ten of the 11 congenital/infantile SRMS showed recurrent fusion genes: with novel VGLL2 rearrangements seen in 7 (63%), including VGLL2-CITED2 fusion in 4 and VGLL2-NCOA2 in 2 cases. '), ('881', 'P-gp_MDR1', 't(4;7)(q31;q21) / 16p13.3 / ', 'P-gp', 'MDR1', '9713996', '58', 'colon cancer\r\r', 'FISH ', '', '', '', '', '', '', '', 'Cytogenetic and molecular characterization of random chromosomal rearrangements activating the drug resistance gene, MDR1/P-glycoprotein, in drug-selected cell lines and patients with drug refractory ALL.. '), ('882', 'MDS1_AML1', '', 'MDS1', 'AML1', '22886961', '58', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', '', 'The results showed that except unqualified samples, fusion genes were detected by multiplex RT-PCR in 211 of 474 patients (44.51%), including AML1-ETO, CBF?-MYH11, PML-RAR?, PLZF-RAR?, NPM-RAR?, MLL rearrangements, BCR-ABL, DEK-CAN, SET-CAN, TEL-PDGFR, TLS-ERG, AML1-MDS1 (EVI-1). '), ('883', 'CALM_AF10', 't(11;22)(q23;q11) / t(9;11)(p21-22;q23) / t(10;11)(p13;q21) / ', 'CALM', 'AF10', '11911106', '58', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH', '', '', '', '', '', '', '', 'Incidence of MLL rearrangement in acute myeloid leukemia, and a CALM-AF10 fusion in M4 type acute myeloblastic leukemia.. '), ('884', 'ZNF444_EWSR1', '', 'ZNF444', 'EWSR1', '20815032', '57', 'myoepithelial tumor\r\r', 'FISH ', '', '', '', '', '', '', '', 'An EWSR1-PBX1 fusion was seen in five cases, whereas EWSR1-ZNF444 and FUS gene rearrangement was noted in one pulmonary tumor each. '), ('885', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '25870120', '57', 'adenoid cystic carcinoma\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'We also examined EGFR amplification and TMPRSS2-ERG gene rearrangement by fluorescence in situ hybridization.     ///    \"The TMPRSS2-ERG rearrangement was not detected in any of the tumors studied, nor was ERG protein positivity identified by immunostaining. \"'), ('886', 'MYH11_CBFB', '', 'MYH11', 'CBFB', '15820957', '57', 'acute myeloid leukemia;acute lymphoblastic leukemia;chronic myeloid leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', ' We compared the incidence of submicroscopic deletions accompanying balanced translocations using interphase fluorescence in situ hybridization (FISH) in 245 patients with chronic myeloid leukemia (CML), 79 patients with acute lymphoblastic leukemia (ALL) and BCR-ABL (n=70) or MLL rearrangements (n=29), and 412 patients with acute myeloid leukemia (AML) with CBFB-MYH11 (n=122), PML-RARalpha (n=108), AML1-ETO (n=112), or MLL rearrangements (n=98). '), ('887', 'ETO_AML1', '', 'ETO', 'AML1', '15820957', '57', 'acute myeloid leukemia;acute lymphoblastic leukemia;chronic myeloid leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', ' We compared the incidence of submicroscopic deletions accompanying balanced translocations using interphase fluorescence in situ hybridization (FISH) in 245 patients with chronic myeloid leukemia (CML), 79 patients with acute lymphoblastic leukemia (ALL) and BCR-ABL (n=70) or MLL rearrangements (n=29), and 412 patients with acute myeloid leukemia (AML) with CBFB-MYH11 (n=122), PML-RARalpha (n=108), AML1-ETO (n=112), or MLL rearrangements (n=98). '), ('888', 'RUNX1_MECOM', 't(1;21)(p36;q22) / t(1;21) / ', 'RUNX1', 'MECOM', '16015645', '56', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', '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.     ///    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.. '), ('889', 'P300_MOZ', 't(2;8)(p23;p11) / t(8;21)(q22;q22) / t(2;8) / t(8;16)(p11;p13) / inv(8)(p11q13) / t(8;22)(p11;q13) / ', 'P300', 'MOZ', '12619166', '56', 'myelodysplastic syndrome;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'MOZ-linked fusion proteins such as MOZ-CBP (CREB binding protein), MOZ-TIF2 (transcriptional intermediary factor 2), and MOZ-p300 (adenoviral E1A-associated protein) are associated with AML chromosomal abnormalities at t(8;16)(p11;p13), inv(8)(p11q13), and t(8;22)(p11;q13), respectively, and are thought to account for leukemogenesis occurring through the aberrant regulation of histone acetylation. '), ('890', 'TOP2B_NUP98', 't(3;11)(p24;p15) / ', 'TOP2B', 'NUP98', '16166424', '56', 'acute myeloid leukemia;myeloid leukemia;leukemia;hematologic malignancy\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'In addition to reciprocal NUP98-TOP2B and TOP2B-NUP98 in-frame fusion transcripts, an alternatively spliced out-of-frame TOP2B-NUP98 transcript that resulted in a premature stop codon was detected. '), ('891', 'EWSR1_CREB1', '', 'EWSR1', 'CREB1', '24043718', '56', 'fibrous histiocytoma;histiocytoma\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', 'KB', '', 'Besides EWSR1 gene rearrangement detected in four cases by fluorescence in situ hybridisation (FISH), EWSR1-CREB1 fusion was confirmed in nine cases, including a schwannoma-like AFH, and EWSR1-ATF1 fusion detected in a myoepithelioma-like AFH.    ///    \"Besides EWSR1 gene rearrangement detected in four cases by fluorescence in situ hybridisation (FISH), EWSR1-CREB1 fusion was confirmed in nine cases, including a schwannoma-like AFH, and EWSR1-ATF1 fusion detected in a myoepithelioma-like AFH. \"'), ('892', 'TIF2_MOZ', 't(2;8)(p23;p11) / t(8;21)(q22;q22) / t(2;8) / t(8;16)(p11;p13) / inv(8)(p11q13) / t(8;22)(p11;q13) / ', 'TIF2', 'MOZ', '12619166', '56', 'myelodysplastic syndrome;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'MOZ-linked fusion proteins such as MOZ-CBP (CREB binding protein), MOZ-TIF2 (transcriptional intermediary factor 2), and MOZ-p300 (adenoviral E1A-associated protein) are associated with AML chromosomal abnormalities at t(8;16)(p11;p13), inv(8)(p11q13), and t(8;22)(p11;q13), respectively, and are thought to account for leukemogenesis occurring through the aberrant regulation of histone acetylation. '), ('893', 'MALT1_BIRC3', 't(11;18)(q21;q21) / t(14;18)(q32;q21) / t(11;18)  / t(14;18) / ', 'MALT1', 'BIRC3', '16804917', '56', 'MALT lymphoma;B cell lymphoma;lymphoma\r\r', 'FISH', '', '', '', '', '', '', '', 'These translocations lead to fusions of BIRC3-MALT1 and IGH-MALT1 respectively, and activate the NF-kappaB pathway. '), ('894', 'MOZ_CBP', 't(2;8)(p23;p11) / t(8;21)(q22;q22) / t(2;8) / t(8;16)(p11;p13) / inv(8)(p11q13) / t(8;22)(p11;q13) / ', 'MOZ', 'CBP', '12619166', '56', 'myelodysplastic syndrome;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'MOZ-linked fusion proteins such as MOZ-CBP (CREB binding protein), MOZ-TIF2 (transcriptional intermediary factor 2), and MOZ-p300 (adenoviral E1A-associated protein) are associated with AML chromosomal abnormalities at t(8;16)(p11;p13), inv(8)(p11q13), and t(8;22)(p11;q13), respectively, and are thought to account for leukemogenesis occurring through the aberrant regulation of histone acetylation. '), ('895', 'EWSR1_ATF1', '', 'EWSR1', 'ATF1', '24043718', '56', 'fibrous histiocytoma;histiocytoma\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Besides EWSR1 gene rearrangement detected in four cases by fluorescence in situ hybridisation (FISH), EWSR1-CREB1 fusion was confirmed in nine cases, including a schwannoma-like AFH, and EWSR1-ATF1 fusion detected in a myoepithelioma-like AFH. '), ('896', 'ETO_AML1', 't(1;21)(p32;q22) / t(7;11)(p15;p15) / t(1;21)  / ', 'ETO', 'AML1', '19005624', '55', 'leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Fluorescent in situ hybridization (FISH) analysis using an AML1-ETO translocation dual probe, showed that the 21q22 breakpoint involved AML1 locus. '), ('897', 'SYT_SSX1', 'p11.2;q11.2 / t(11;19) / ', 'SYT', 'SSX1', '15993275', '55', 'synovial sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'The SYT-SSX1 fusion transcript was detected with reverse transcriptase-polymerase chain reaction analysis. '), ('898', 'IGH_BCL2', 't(14;18) / ', 'IGH', 'BCL2', '23108024', '55', 'follicular lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Clonal immunoglobulin gene rearrangement was detected in 97% of PFL cases, but fluorescence in situ hybridization analysis showed an absence of the BCL2/IGH@ translocation in all cases tested.     ///    BCL2 expression was common (63%) in the absence of BCL2/IGH@ translocation. '), ('899', 'EML4_ALK', '', 'EML4', 'ALK', '23891510', '54', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'KIF5B/RET fusion gene analysis in a selected series of cytological specimens of EGFR, KRAS and EML4-ALK wild-type adenocarcinomas of the lung..     ///    \"This transforming gene arise from the fusion of KIF5B and the RET proto-oncogene, and it is mutually exclusive with EGFR, KRAS and EML4/ALK alterations. \"'), ('900', 'IGH_CHST11', 't(12;14)(q23;q32) / ', 'IGH', 'CHST11', '15273723', '54', 'chronic lymphocytic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', '5\'- and 3\'-Rapid Amplification of cDNA Ends (RACE) revealed IGH/CHST11 as well as CHST11/IGH fusion RNAs expressed from the der(14) and der(12) chromosomes. '), ('901', 'MYC_BCL2', 't(2;8) / p12;q24.2 / t(14;18) / ', 'MYC', 'BCL2', '26515759', '54', 'B cell lymphoma', 'FISH;PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Establishment and characterization of a novel MYC/BCL2 \"double-hit\" diffuse large B cell lymphoma cell line, RC..     ///    The data presented confirm the validity of the RC cell line as a representative model of MYC/BCL2 DHL that will be useful for both in vitro and in vivo studies of DHL pathogenesis and therapeutics..     ///    \"Patients with MYC/BCL2 DHL are resistant to standard front-line therapy, and currently, there is no consensus for a therapeutic strategy to treat these patients. \"    ///    \"We describe a unique MYC/BCL2 DHL cell line with morphologic features of DLBCL that we have established, designated as RC. \"    ///    Lack of clinically relevant or validated human experimental DHL models of any type that would improve our understanding of the biologic basis of MYC/BCL2 DHL pathophysiology continues to hamper identification of valid therapeutic targets. '), ('902', 'MYC_IG', 't(16;22)  / ', 'MYC', 'IG', '12759924', '54', 'leukemia;multiple myeloma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'MYC locus alterations were observed in 21 cases: MYC/IG (mainly IGH@) fusions in 11 cell lines and three patients (2 MM and 1 PCL), and extra signals and/or abnormal MYC localizations in seven patients (5 MM and 2 PCL). '), ('903', 'PDGFB_COL1A1', 't(17;22)(q22;q13) / ', 'PDGFB', 'COL1A1', '21484928', '54', 'dermatofibrosarcoma;dermatofibrosarcoma,', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', '', 'KB', '', 'In conclusion, the majority of DFSP harbor the COL1A1/PDGFB translocation and FISH technique should be recommended as a routine diagnostic tool, especially in cases showing unusual histopathological subtypes and/or immunohistochemical features..     ///    We have evaluated the usefulness of a dual color dual fusion FISH probe strategy for COL1A1/PDGFB detection in a series of 103 archival DFSPs and compared the obtained results with RT-PCR analyses.     ///    \"Interestingly, all CD34 negative DFSP (n = 5) were positive for COL1A1/PDGFB translocation by both techniques. \"    ///    The COL1A1/PDGFB translocation was detected in 93% of DFSP. '), ('904', 'ETO_AML1', 't(8;21)(q22;q22) / t(8;9)(q22;q34) / t(8;21) / t(9;21)(q34;q22) / ', 'ETO', 'AML1', '18224418', '54', 'leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Results of FISH using the AML1/ETO probe and detection of the AML1/ETO fusion transcripts by reverse transcriptase-polymerase chain reaction (RT-PCR) support the karyotype as well as the sequence of the PCR product. '), ('905', 'VCFS_DGS', 't(11;22)(q23;q11) / t(11;22)  / t(18;22)  / ', 'VCFS', 'DGS', '10053009', '54', 'velocardiofacial syndrome', 'FISH', '', '', '', '', '', '', '', 'Most patients with VCFS/DGS have a similar 3-Mb deletion, whereas some have a nested distal deletion endpoint resulting in a 1.5-Mb deletion, and a few rare patients have unique deletions.     ///    \"The trisomic region on chromosome 22 overlaps the region hemizygously deleted in another congenital anomaly disorder, velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS). \"'), ('906', 'NTRK3_ETV6', '', 'NTRK3', 'ETV6', '25703106', '54', '', 'FISH;PCR;RT-PCR ', 'Kinase', '', '', '', '', 'KB', 'Seq', ' Mammary analog secretory carcinoma (MASC) is a newly described rare malignancy of the salivary glands characterized by an ETS variant 6 (ETV6)-neurotrophic tyrosine kinase receptor type 3 (NTRK3) fusion gene (EN fusion gene). '), ('907', 'RUNX1_ETV6', 't(9;22) / ', 'RUNX1', 'ETV6', '24255623', '54', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Intrachromosomal amplification of chromosome 21 (iAMP21) detected by ETV6/RUNX1 FISH screening in childhood acute lymphoblastic leukemia: a case report.. '), ('908', 'RET_PTC', '', 'RET', 'PTC', '22895275', '54', 'thyroid carcinoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'This entity shows a PAX8-PPARg fusion gene (associated with FTC), more frequently than BRAF or RET-PTC alterations (associated with PTC).     ///    \"Our findings indicate that molecular heterogeneity, although an uncommon phenomenon, may occur in thyroid carcinoma and demonstrate the coexistence in a case of FV-PTC not only of the histologic but also of the molecular features of both PTC (RET-PTC) and FTC (PAX8-PPARg).. \"    ///    \"Herein, we report, for the first time, an FV-PTC with the simultaneous occurrence of both RET-PTC and PAX8-PPARg alterations. \"'), ('909', 'MAP4_MALT1', 't(11;18)(q21;q21) / t(14;18)(q32;q21) / ', 'MAP4', 'MALT1', '16804917', '53', 'MALT lymphoma;B cell lymphoma;lymphoma\r\r', 'FISH', '', '', '', '', '', '', '', 'Our data demonstrate that the pathogenetic consequences of the novel MALT1-MAP4 fusion are different from those of the known MALT1-associated chromosomal rearrangements and do not involve NF-kappaB activation..     ///    \"Immunohistochemistry with amino-terminal and carboxy-terminal MALT1 antibodies, indicated a strong expression of the chimeric MALT1-MAP4 protein. \"'), ('910', 'PDGFB_COL1A1', 't(17;22) / ', 'PDGFB', 'COL1A1', '12661001', '53', 'dermatofibrosarcoma protuberans;sarcoma\r\r', 'FISH;PCR;RT-PCR', '', 'Oncogene', '', '', '', 'KB', '', 'Similar to other tumors, the COL1A1-PDGFB fusion is occasionally cryptic, associated with complex chromosomal rearrangements.     ///    \"In approximately 8% of DP cases, the COL1A1-PDGFB fusion is not found, suggesting that genes other than COL1A1 or PDGFB might be involved in a subset of cases. \"    ///    The COL1A1-PDGFB fusion is detectable by multiplex RT-PCR with a combination of forward primers designed from a variety of COL1A1 exons and one reverse primer from PDGFB exon 2.     ///    \"In approximately 8% of DP cases, the COL1A1-PDGFB fusion is not found, suggesting that genes other than COL1A1 or PDGFB might be involved in a subset of cases.\"'), ('911', 'EML4_ALK', '', 'EML4', 'ALK', '25898958', '53', 'non small cell lung cancer', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The standard diagnostic method for echinoderm microtubule-associated protein-like 4-anaplastic lymphoma receptor tyrosine kinase translocation is fluorescence in situ hybridization (FISH). '), ('912', 'SSX2_SS18', '', 'SSX2', 'SS18', '21536237', '53', 'bone cyst', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', 'Seq', 'Reverse-transcription polymerase chain reaction (RT-PCR) for the SS18-SSX1 and SS18-SSX2 translocations, identity testing, and SS18 FISH were performed on cytogenetic monolayer cultures and formalin-fixed paraffin-embedded (FFPE) tissue. '), ('913', 'BCL2_IGH', '', 'BCL2', 'IGH', '24314242', '53', 'follicular lymphoma;B cell lymphoma;B cell lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Interphase fluorescence in-situ hybridization (FISH) was performed with a panel of probes including myc, bcl-2/IgH and bcl-6 to document related gene translocation and copy number changes.     ///    \"Among 145 cases, 5 cases (3.4%) of B cell lymphomas with concurrent myc and bcl-2/IgH or bcl-6 rearrangements (double-hit lymphomas) were identified, including 2 cases involving myc and bcl-2 translocations (1 DLBCL and 1 BCLU), and 3 cases involving myc and bcl-6 translocations (all DLBCLs). \"    ///    \" To identify and investigate clinicopathological features of B cell lymphomas with concurrent myc and bcl-2/IgH or bcl-6 translocations (\"\"double-hit\"\" lymphoma). \"    ///    Three cases with concurrent bcl-2/IgH and bcl-6 translocations were found.     ///    [B-cell lymphomas with concurrent myc and bcl-2/IgH or bcl-6 translocations].. '), ('914', 'RARA_PML', 't(15;17)(q22;q21) / t(15;17)  / ', 'RARA', 'PML', '10564584', '53', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The clinical and hematological profiles expressed by the two patients carrying these unexpected types of PML/RARA rearrangement did not differ significantly from that commonly seen in other APLs with the exception of the poor outcome.     ///    \"In patient 1, RT-PCR analysis of the reciprocal RARA/PML junction showed a smaller transcript than that expected in bcr1 cases, while in patient 2 no amplified fragment was obtained. \"    ///    \" In the present article, two new types of PML/RARA junctions are described. \"    ///    \"By using different sets of primers, reverse transcriptase polymerase chain reaction (RT-PCR) of PML/RARA junctions showed atypical larger bands compared with those generated from the three classical PML breakpoints already described. \"'), ('915', 'KHDRBS3_CTAGE5', '', 'KHDRBS3', 'CTAGE5', '26628996', '53', '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. \"    ///    \"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. \"'), ('916', 'SSX1_SS18', '', 'SSX1', 'SS18', '21536237', '53', 'bone cyst', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', '', 'Reverse-transcription polymerase chain reaction (RT-PCR) for the SS18-SSX1 and SS18-SSX2 translocations, identity testing, and SS18 FISH were performed on cytogenetic monolayer cultures and formalin-fixed paraffin-embedded (FFPE) tissue. '), ('917', 'PDGFB_COL1A1', 't(17;22)(q22;q13) / ', 'PDGFB', 'COL1A1', '22153773', '53', 'severe combined immunodeficiency', 'FISH;PCR;RT-PCR', '', 'Oncogene', '', '', '', 'KB', '', 'and RT-PCR showed the COL1A1-PDGFB fusion transcript in 6 patients. '), ('918', 'USP9Y_TTTY15', '', 'USP9Y', 'TTTY15', '26628996', '53', '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. \"'), ('919', 'IGH_BCL2', 't(14;18)  / ', 'IGH', 'BCL2', '11793448', '52', 'MALT lymphoma', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Two-color FISH was also performed on paraffin-embedded tissue sections, which demonstrated BCL2/IGH fusion-positive cells in neoplastic follicles.     ///    We identified BCL2/IGH fusion at a frequency of 83%. '), ('920', 'TMBIM4_MSRB3', '', 'TMBIM4', 'MSRB3', '25176350', '52', 'sarcoma\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', '', 'RNA-Seq of the primary tumor identified four fusion genes, PTGES3-PTPRB, HMGA2-DYRK2, TMBIM4-MSRB3 and USP15-CNTN1, in which all the partner genes map to the q arm of chromosome 12.     ///    \"Because MDM2 amplification and the fusion transcripts PTGES3-PTPRB, HMGA2-DYRK2 and TMBIM4-MSRB3 were found both in the primary tumor and in the metastasis, they are components of the same clone and may be involved both in initiation and progression of the tumor. \"    ///    \"In material from the metastasis, RT-PCR detected the PTGES3-PTPRB, HMGA2-DYRK2 and TMBIM4-MSRB3 whereas no USP15-CNTN1 fusion transcript was found. \"'), ('921', 'MALT1_API', 't(11;18)(q21;q21) / ', 'MALT1', 'API', '20676680', '52', 'MALT lymphoma;lymphoma\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'To investigate where the present case has API-MALT1 fusion, we used the nested PCR and FISH analysis. '), ('922', 'USP15_CNTN1', '', 'USP15', 'CNTN1', '25176350', '52', 'sarcoma\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', '', 'RNA-Seq of the primary tumor identified four fusion genes, PTGES3-PTPRB, HMGA2-DYRK2, TMBIM4-MSRB3 and USP15-CNTN1, in which all the partner genes map to the q arm of chromosome 12.     ///    \"In material from the metastasis, RT-PCR detected the PTGES3-PTPRB, HMGA2-DYRK2 and TMBIM4-MSRB3 whereas no USP15-CNTN1 fusion transcript was found. \"'), ('923', 'ETO_AML1', 't(8;13;21)(q22;q14;q22) / t(8;21)  / t(8;21)(q22;q22) / ', 'ETO', 'AML1', '18164974', '52', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Using a dual-color fluorescence in situ hybridization (FISH) analysis with ETO and AML1 probes, we demonstrate an ETO/AML1 fusion signal on the derivative chromosome 8. '), ('924', 'FLI_EWS', 't(11;22)(q24;q12) / ', 'FLI', 'EWS', '10571517', '52', 'neuroectodermal tumor;olfactory neuroblastoma', 'FISH ', '', '', '', '', '', '', '', 'Probes localizing to 22q12 (EWS) and 11q24 (FLI-1) were used in a standard 2-color fluorescence in situ hybridization (FISH) assay to evaluate EWS/FLI1 fusion on the der(22). '), ('925', 'ETO_AML1', 't(8;21)  / t(8;21)(q22;q22) / p22;q22 / ', 'ETO', 'AML1', '18453738', '52', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Using a dual color fluorescence in situ hybridization (FISH) analysis with ETO and AML1 probes, we demonstrated an ETO/AML1 fusion signal on the derivative chromosome 8 and one ETO signal on derivative Chromosome Xp22. '), ('926', 'ETV6_AML1', 't(12;21)(p13;q22) / t(12;21) / ', 'ETV6', 'AML1', '11960348', '52', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'In conclusion, FISH proved to be reliable in defining ETV6/AML1 positivity in this group of patients as well as providing valuable insights into negative cases..     ///    ETV6/AML1 fusion by FISH in adult acute lymphoblastic leukemia.. '), ('927', 'MYH11_CBFB', 't(2;11)(q37;q23) / ', 'MYH11', 'CBFB', '19445675', '52', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Cytogenetics, fluorescence in situ hybridization (FISH) and molecular studies (RT-PCR, qRT-PCR and qMSP) were used to characterize 58 acute myeloid leukemia patients (AML) at diagnosis selected to represent the major AML genetic subgroups: CBFB-MYH11 (n = 13), PML-RARA (n = 12). '), ('928', 'RARA_PML', 't(2;11)(q37;q23) / ', 'RARA', 'PML', '19445675', '52', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Cytogenetics, fluorescence in situ hybridization (FISH) and molecular studies (RT-PCR, qRT-PCR and qMSP) were used to characterize 58 acute myeloid leukemia patients (AML) at diagnosis selected to represent the major AML genetic subgroups: CBFB-MYH11 (n = 13), PML-RARA (n = 12). '), ('929', 'TFE3_RBM10', '', 'TFE3', 'RBM10', '26998913', '52', 'renal cell carcinoma\r\r', 'FISH;PCR;RT-PCR', '', '', 'Tumor_suppressor', '', '', '', '', 'RBM10-TFE3 fusion transcript was confirmed using specific RT-PCR.     ///    Identification by FFPE RNA-Seq of a new recurrent inversion leading to RBM10-TFE3 fusion in renal cell carcinoma with subtle TFE3 break-apart FISH pattern..     ///    RBM10-TFE3 fusion should be added in the list of screened fusion transcripts in targeted molecular diagnostic multiplex RT-PCR.     ///    A RBM10-TFE3 fusion was previously described in single case of Xp11.2 RCC.     ///    \"Although rare, RBM10-TFE3 fusion variant (from chromosome X paracentric inversion), therefore, appears to be a recurrent molecular event in Xp11.2 RCCs. \"'), ('930', 'FLI1_EWSR1', 't(4;22)(q31;q12) / ', 'FLI1', 'EWSR1', '21113140', '51', 'ewing sarcoma;neuroectodermal tumor;sarcoma\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', 'Seq', ' Over 90% of Ewing sarcoma/primitive neuroectodermal tumors (PNETs) feature an 11;22 translocation leading to an EWSR1-FLI1 fusion. '), ('931', 'NPM_ALK', 't(2;5)  / t(2;5)(p23;q35) / ', 'NPM', 'ALK', '10555007', '51', 'anaplastic large cell lymphoma;lymphoma\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', '', '', 'RT-PCR, performed on 21 lymphomas, detected NPM-ALK mRNA in five of the lymphomas, all of which reacted with anti-ALK1 and showed ALK gene rearrangement by FISH. '), ('932', 'RANBP2_ALK', 'inv(2)(p23q12) / del(2) / 1p11.2 / t(2;17)(p23;q23) / ', 'RANBP2', 'ALK', '17656252', '51', '', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'FISH showed ALK-RANBP2 fusion in this tumor.     ///    \"The breakpoint was cloned and the fusion was confirmed, making this the third reported case of IMT with ALK-RANBP2 fusion. \"'), ('933', 'TFE3_ASPL', 't(13;17) (p11;q11) / p11;q25 / ', 'TFE3', 'ASPL', '15138551', '50', 'renal cell carcinoma\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', '', 'Establishment and characterization of a renal cell carcinoma cell line (FU-UR-1) with the reciprocal ASPL-TFE3 fusion transcript..     ///    \"Reverse transcriptase-polymerase chain reaction (RT-PCR) and sequence analysis demonstrated reciprocal ASPL-TFE3 and TFE3-ASPL fusion transcripts in the retroperitoneal tumor, cultured FU-UR-1 cells and xenografted tumors. \"    ///    This well-examined cell line may become a useful system for studying the genetic and biologic characteristics of rare neoplasms with the reciprocal ASPL-TFE3 fusion transcript.. '), ('934', 'ETV6_ABL1', 't(9;22)(q34;q11) / t(12;13)(p12;q13) / ', 'ETV6', 'ABL1', '12823349', '50', '', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'However, a few CML patients with rearrangements of 9q34 and 12p13, leading to ETV6/ABL1 chimaeras, have also been reported.     ///    \"However, whereas the ETV6/ABL1 expression was seemingly the same at diagnosis and at second BC, the expression of ETV6 was markedly lower at the second BC. \"    ///    Clinical and genetic studies of ETV6/ABL1-positive chronic myeloid leukaemia in blast crisis treated with imatinib mesylate..     ///    Here we describe the clinical and genetic response to imatinib mesylate treatment of an ETV6/ABL1-positive CML patient diagnosed in blast crisis (BC).     ///    No mutations in the tyrosine kinase domain of ABL1 of the ETV6/ABL1 fusion were identified in the second BC. '), ('935', 'MYC_IGH', '', 'MYC', 'IGH', '22002677', '50', 'B cell lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'For cases with c-MYC rearrangement, additional FISH studies with MYC/IgH fusion probe, BCL2 break apart probe, and BCL6 break apart probe were performed. '), ('936', 'FLI_EWS', 't(11;22)  / ', 'FLI', 'EWS', '11037342', '50', 'neuroectodermal tumor;ewing sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', '', ' It is now widely accepted that the EWS/FLI-1 fusion transcript is associated with tumors of the Ewing family.     ///    We conclude from these results that in situ RT-PCR can be used for the rapid detection of EWS/FLI-1 fusion transcripts in biopsy material.     ///    In situ reverse-transcriptase polymerase chain reaction demonstration of the EWS/FLI-1 fusion transcript in Ewing\'s sarcomas and peripheral primitive neuroectodermal tumors..     ///    The findings also suggest that all cells of the tumors of the Ewing family carry the EWS/FLI-1 fusion transcript.. '), ('937', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '21549623', '50', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'We performed a comprehensive study using FISH, G-banding and IHC to identify PAX5 deletion and expression in 102 CD19+ clinical B-ALL cases (79 children and 33 adults) and investigated its relationship with common cytogenetic changes including BCR-ABL1, ETV6-RUNX1 and MLL rearrangements, and CDKN2A deletion. '), ('938', 'BCR_ABL1', '', 'BCR', 'ABL1', '21549623', '50', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We performed a comprehensive study using FISH, G-banding and IHC to identify PAX5 deletion and expression in 102 CD19+ clinical B-ALL cases (79 children and 33 adults) and investigated its relationship with common cytogenetic changes including BCR-ABL1, ETV6-RUNX1 and MLL rearrangements, and CDKN2A deletion.     ///    The incidence of PAX5 deletion was higher than those of BCR-ABL1 (8.9%) or MLL rearrangements (5.1%) in children and than that of MLL rearrangement (3.1%) in adults. '), ('939', 'IGH_CCND1', '', 'IGH', 'CCND1', '18398742', '50', 'mantle cell lymphoma;lymphoma\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Both had a CCND1/IGH and an MYC rearrangement by cytogenetics and FISH. '), ('940', 'EML4_ALK', '', 'EML4', 'ALK', '25847523', '50', 'small cell lung cancer;lung cancer\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The ALK/EML4 TriCheck FISH probe may be useful for the detection of ALK rearrangements, especially in borderline or atypical cases, where an additional unique ALK FISH probe may provide further confirmation of rearrangement..     ///    ALK FISH was prospectively performed on 45 NSCLCs with the ALK/EML4 TriCheck probe (ZytoVision) and the Vysis ALK break-apart probe (Abbott Molecular).     ///    The aim of this study was to evaluate the ALK/EML4 TriCheck FISH probe in a series of NSCLCs enriched for tumours with equivocal ALK status. '), ('941', 'MLL_AF9', 't(9;11) / t(1;12) / t(1;20) / ', 'MLL', 'AF9', '11066077', '50', 'leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Sequencing of the RT-PCR product showed a direct in-frame fusion product on the derivative chromosome 11 between exon 6 (exon 9) of MLL and exon 5 of AF9, which is most commonly involved in MLL-AF9 translocations. '), ('942', 'P300_MOZ', 't(8;22)(p11;q13) / ', 'P300', 'MOZ', '11243405', '49', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH', '', '', '', '', '', '', '', 'These results suggest that MOZ-p300, which has two acetyltransferase domains, could be involved in leukemogenesis through aberrant regulation of histone acetylation.. '), ('943', 'EML4_ALK', '', 'EML4', 'ALK', '19147828', '49', 'non small cell lung cancer;lung cancer\r\r', 'FISH;PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' A fusion gene, echinoderm microtubule associated protein like 4-anaplastic lymphoma kinase (EML4-ALK), with transforming activity has recently been identified in a subset of non-small cell lung cancer (NSCLC), but its pathogenetic, diagnostic, and therapeutic roles remain unclear.     ///    \"In cases carrying the fusion transcript, we determined EML4-ALK gene and protein levels using fluorescence in situ hybridization, Western blotting, and immunoprecipitation. \"    ///    EML4-ALK rearrangement in non-small cell lung cancer and non-tumor lung tissues..     ///    Fluorescence in situ hybridization analysis of cases expressing EML4-ALK transcripts showed that only a minority of cells harbored the EML4-ALK gene.     ///    The EML4-ALK transcript cannot be regarded as a specific diagnostic tool for NSCLC.     ///    Both frequency and type of EML4-ALK transcripts were investigated by reverse transcription PCR in 120 frozen NSCLC specimens from Italy and Spain.     ///    EML4-ALK transcripts (variants 1 and 3) were detected in 9 of 120 NSCLC samples but were not specific for NSCLC since they were also found in non-cancerous lung tissues taken far from the tumor.     ///    Our results show therefore that the causal role and value of EML4-ALK as a therapeutic target remain to be defined..     ///    \"None of these cases was found to express the EML4-ALK protein as examined by immunohistochemistry, Western blotting, and immunoprecipitation. \"'), ('944', 'SLC34A2_ROS1', '', 'SLC34A2', 'ROS1', '23400546', '49', 'non small cell lung cancer', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'and 2 of those 3 patients harbored a solute carrier family 34 (sodium phosphate), member 2 (SLC34A2)-ROS1 fusion transcripts.     ///    \"In this study, an SLC34A2-ROS1 rearrangement was identified in GC, and the results provide a rationale for investigating the clinical efficacy of ROS1 inhibitors in this unique molecular subset of GC. \"    ///    Both patients who had SLC34A2-ROS1 transcripts had poorly differentiated histology with recurrence and death within 2 years of curative surgery. '), ('945', 'RUNX1_CBFA2T1', 't(8;21)(q22;q22) / ', 'RUNX1', 'CBFA2T1', '15236320', '49', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In the present article, we describe six insertion events among 82 (7.3%) AML cases characterized by the RUNX1/CBFA2T1 fusion. '), ('946', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '25639817', '49', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The aim of this project was to validate earlier time frames for the Abbott Molecular Vysis LSI promyelocytic leukemia (PML)/ retinoic acid receptor alpha (RARA) fluorescence in situ hybridization (FISH) probe (ASR 6-16 h). '), ('947', 'IGH_MYC', 't(14,18)  /  / ', 'IGH', 'MYC', '15370207', '49', 'acute lymphoblastic leukemia;T cell lymphoma;lymphoblastic leukemia;non Hodgkin lymphoma;leukemia;B\r\r', 'FISH;PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'C-MYC/IGH translocation is possibly an evolutionary alteration following the primary IGH translocation with BCL1, BCL2, or BCL6.     ///    Median survival time of patients with c-MYC/IGH translocation was 9 months. '), ('948', 'TP53_ATM', '17p13.1 / ', 'TP53', 'ATM', '24032430', '49', '', 'FISH ', 'Kinase', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Use of an ATM/TP53 combination FISH probe set could identify these very-high risk patients. '), ('949', 'BCR_ABL1', 't(11;19) / t(9;22)(q34;q11) / ', 'BCR', 'ABL1', '15066325', '49', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Fluorescence in situ hybridization (FISH) analysis showed that fusion signals of the ABL/BCR probes were found in 95% of blastic cells. '), ('950', 'MYH11_CBFB', 'inv(16)(p13q22) / ', 'MYH11', 'CBFB', '21638519', '49', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Furthermore, the CBFB-MYH11 distance is significantly reduced compared with CBFB and a control locus in HSCs, although separation between CBFB and the control is ?70% of that between CBFB and MYH11 on metaphase chromosomes. '), ('951', 'SSX4_SS18', '', 'SSX4', 'SS18', '17334349', '49', 'mesothelioma;synovial sarcoma', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', '', ' Synovial Sarcoma consistently harbors t(X;18) resulting in SS18-SSX1, SS18-SSX2 and rarely SS18-SSX4 fusion transcripts. '), ('952', 'BCL2_IGH', 't(14;18)  / ', 'BCL2', 'IGH', '11840295', '49', '', 'FISH', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Further FISH investigations using a locus-specific probe cocktail containing c-myc, IgH and bcl-2 revealed fusion of these three loci on the derivatives 8 and 13, in addition to the derivative 14 IgH/bcl-2 fusion and an extra copy of c-myc on derivative chromosome 1. '), ('953', 'MALT1_API2', 't(11;18)(q21;q21) / ', 'MALT1', 'API2', '18949449', '49', 'MALT lymphoma;lymphoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'BCL10 nuclear expression and interphase fluorescence in situ hybridization (FISH) for MALT1 and API2/MALT1 were tested. '), ('954', 'MYC_IGH', 't(14;18)(q32;q21) / ', 'MYC', 'IGH', '23985173', '49', 'lymphoblastic leukemia;non Hodgkin lymphoma;leukemia;follicular lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Analyses defined the presence of an IGH/BCL2 fusion due to a translocation as well as a MYC/IGH fusion due to an insertion, with both rearrangements involving the same IGH allele. '), ('955', 'BCR_ABL1', 't(1;9)(q11;q34) / ', 'BCR', 'ABL1', '19667417', '49', 'chronic myeloid leukemia;multiple myeloma', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In addition, the BCR/ABL fluorescent in situ hybridization (FISH) pattern of the interphase cells was interpreted as: \"nuc ish(ABL, BCR) x 2[292/300],\" consistent with the normal signal patterns found in 97% of the nuclei examined. '), ('956', 'MYH11_CBF', '5p15.2 / inv(16) / t(11q23)  / ', 'MYH11', 'CBF', '12872151', '49', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'For FISH the following probes were used: MLL, CBF-beta/MYH11, ETV-6/AML1. '), ('957', 'RUNX1T1_RUNX1', 't(8;21) / t(8;21)(q22;q22) / t(8;21)  / t(8;18;21) / p22;q11.3 / t(2;21;8) / 18p11.3 / ', 'RUNX1T1', 'RUNX1', '20417866', '49', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Fluorescence in situ hybridization or reverse transcriptase-polymerase chain reaction assay confirmed the presence of RUNX1-RUNX1T1 gene (previously AML1-ETO) rearrangements. '), ('958', 'RET_PTC1', '', 'RET', 'PTC1', '16595592', '49', 'papillary carcinoma\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', '', '', 'Low RET/PTC1 levels were detected in 26% (nine of 34) of papillary carcinomas with an expression pattern and proportion of FISH-positive cells similar to those of the thyroiditis.     ///    \"real-time RT-PCR to quantify RET/PTC1, RET/PTC3, and c-RET transcripts. \"    ///    Forty-seven percent (16 of 34) of papillary carcinomas and one oncocytic carcinoma expressed high RET/PTC1 mRNA levels.     ///    low-level RET/PTC was identified in 17% (five of 29) of thyroiditis cases by real-time RT-PCR and in an additional six of 11 real-time negative cases after increasing sensitivity with laser capture microdissection.     ///    \"The objective of this study was to determine 1) whether RET/PTC occurs in nonneoplastic follicular cells of HT, and 2) its recombination rate in thyroid tumors. \"    ///    Low-level RET/PTC recombination occurs in nonneoplastic follicular cells in HT and in a subset of papillary thyroid carcinomas.     ///    RET/PTC expression variability should be taken into account for the molecular diagnosis of thyroid lesions. '), ('959', 'MYB_NFIB', '', 'MYB', 'NFIB', '26076064', '48', 'adenoid cystic carcinoma\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'Six of the 11 cutaneous and periorbital ACCs tested with reverse transcriptase polymerase chain reaction and/or fluorescence in situ hybridization had MYB rearrangements including 2 cases that expressed MYB-NFIB fusion transcripts.    ///    Six of the 11 cutaneous and periorbital ACCs tested with reverse transcriptase polymerase chain reaction and/or fluorescence in situ hybridization had MYB rearrangements including 2 cases that expressed MYB-NFIB fusion transcripts. '), ('960', 'MLL_MLLT11', 't(1;11;4) / ', 'MLL', 'MLLT11', '10700861', '48', 'acute myeloid leukemia', 'FISH ', '', '', '', '', '', 'KB', '', 'Molecular studies revealed MLL rearrangement by both fluorescence in situ hybridization and Southern blot analysis, and MLL/AF1q, but not the reciprocal message (i.e., AF1q/MLL), was amplified by polymerase chain reaction.     ///    Sequence analysis of MLL/AF1q revealed an in-frame fusion between MLL exon 6 and the breakpoint located six bases upstream of the ATG start site for AF1q. '), ('961', 'PDGFB_COL1A1', 't(17;22)  / ', 'PDGFB', 'COL1A1', '17950782', '48', 'dermatofibrosarcoma protuberans;sarcoma\r\r', 'FISH;PCR;RT-PCR', '', 'Oncogene', '', '', '', 'KB', '', 'Using this sensitive multiplex RT-PCR assay in combination with fluorescence in situ hybridization, we found COL1A1-PDGFB rearrangements appear more prevalent in DFSP than previously reported.     ///    Dermatofibrosarcoma protuberans COL1A1-PDGFB fusion is identified in virtually all dermatofibrosarcoma protuberans cases when investigated by newly developed multiplex reverse transcription polymerase chain reaction and fluorescence in situ hybridization assays.. '), ('962', 'RAD51L1_HMGA2', 't(12;14)(q15;q23-24) / t(12;14)  / ', 'RAD51L1', 'HMGA2', '12649198', '48', '', 'FISH ', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'RAD51L1-HMGA2 transcripts were not detected.     ///    \"HMGA2-RAD51L1 transcripts, however, were detected in four tumors. \"'), ('963', 'MYC_IGH', 't(8;14)  / ', 'MYC', 'IGH', '16736499', '48', 'lymphoma\r\r', 'FISH;PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'We studied the exact configuration of both the nontranslocated IGH allele and the MYC/IGH breakpoint by applying a combination of low- and high-resolution methods (interphase FISH, DNA fiber FISH, long-distance PCR, and Southern blotting) on 16 BL.     ///    \"Thirteen cases had MYC/IGH breakpoints in or nearby IGH switch (S) sites, including five at Smu, three at Sgamma and five at Salpha. \"'), ('964', 'FUS_CREB3L2', '', 'FUS', 'CREB3L2', '25532939', '48', 'sarcoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', ' We describe a case of superficial low-grade fibromyxoid sarcoma (LGFMS) in a 12-year-old boy, confirmed by the detection of FUS-CREB3L2 fusion transcripts by reverse-transcription polymerase chain reaction and FUS rearrangement with fluorescence in situ hybridization, which had morphological features similar to ossifying fibromyxoid tumor (OFMT), including an almost complete rim of mature, metaplastic bone. '), ('965', 'MLL_HRX', 't(11;21)  / t(11;21) / ', 'MLL', 'HRX', '10451699', '48', 'myelodysplastic syndrome\r\r', 'FISH', '', '', '', '', '', '', '', 'Using FISH with a panel of 11q and 21q cosmid/YAC probes, we localized the chromosome 11 breakpoint at q23.3 in a region flanked by CP-921G9 and CP-939H3 YACs, distal to the HRX/MLL locus frequently involved in acute leukemias. ');
INSERT INTO `ChimerPub_dump` VALUES ('966', 'RET_CCDC6', '', 'RET', 'CCDC6', '25407564', '47', '', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'RET/PTC rearrangement was detected using either RET break-apart FISH followed by multicolor FISH to confirm CCDC6/RET or NCOA4/RET fusions, or by multiplex qPCR to detect 14 RET/PTC subtypes with simultaneous RET mRNA expression.     ///    \"Among 73 PTC patients with sufficient tissue available for FISH and multiplex qPCR, 10 cases were defined as RET/PTC positive by both assays, including eight CCDC6/RET and two NCOA4/RET fusions with relatively high RET mRNA.\"    ///    \"Among 73 PTC patients with sufficient tissue available for FISH and multiplex qPCR, 10 cases were defined as RET/PTC positive by both assays, including eight CCDC6/RET and two NCOA4/RET fusions with relatively high RET mRNA. \"    ///    \"In addition, multiplex qPCR identified another two CCDC6/RET fusion positive cases, but with low RET mRNA expression.\"    ///    \"In addition, multiplex qPCR identified another two CCDC6/RET fusion positive cases, but with low RET mRNA expression. \"'), ('967', 'COL1A1_PDGFB', '', 'COL1A1', 'PDGFB', '25081750', '47', 'perineurioma', 'FISH ', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'For the 185 certain tumors specimens: 178 (96%) FISH analyses showed a PDGFB/COL1A1 rearrangement, 7 (4%) were negative.    ///    \"For the 185 certain tumors specimens: 178 (96%) FISH analyses showed a PDGFB/COL1A1 rearrangement, 7 (4%) were negative. \"'), ('968', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '20056739', '47', 'thyroid nodule;thyroid carcinoma;thyloid cancer\r\r', 'FISH;PCR;RT-PCR', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The RT-PCR assay is applicable for detecting the various described fusion transcripts of PAX8/PPARG in formalin-fixed, paraffin-embedded thyroid tissue and in fine-needle aspirate biopsy washes from thyroid nodules.     ///    Evaluation of the PAX8/PPARG translocation in follicular thyroid cancer with a 4-color reverse-transcription PCR assay and automated high-resolution fragment analysis..     ///    \"With this assay, we obtained a prevalence for the PAX8/PPARG rearrangement in FTC of 62% (13 of 21 cases), compared with a 5% prevalence (3 of 55) for other follicular cell-derived neoplasms.\"    ///    We developed and validated a clinical assay for the detection of PAX8/PPARG rearrangements that uses a 4-color reverse-transcription PCR (RT-PCR) assay and high-resolution fragment analysis.    ///    The molecular changes associated with follicular thyroid carcinoma (FTC) are point mutations in RAS oncogenes or the presence of PAX8/PPARG (paired box 8/peroxisome proliferator-activated receptor gamma) rearrangement.     ///    \"With this assay, we obtained a prevalence for the PAX8/PPARG rearrangement in FTC of 62% (13 of 21 cases), compared with a 5% prevalence (3 of 55) for other follicular cell-derived neoplasms. \"'), ('969', 'CLTC_ALK', '', 'CLTC', 'ALK', '15852431', '47', 'non Hodgkin Lymphoma', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'The clathrin gene (CLTC)-ALK fusion underlying aberrant expression of ALK in the present case was demonstrated by interphase fluorescence in situ hybridization (FISH) using break-apart rearrangement probes for ALK and CLTC. '), ('970', 'EML4_ALK', '', 'EML4', 'ALK', '23198868', '47', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Five of 8 patients with ALK rearrangements detected by FISH were confirmed to have EML4-ALK fusions by multiplex RT-PCR. '), ('971', 'RARA_PML', 't(8;16)  / inv(11) / ', 'RARA', 'PML', '15899384', '47', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'One year later, while PML-RARA negative on FISH and RT-PCR, the patient presented with thrombocytopenia.     ///    FISH using dual-color translocation probes for PML (promyelocytic leukemia) and RARA (retinoic acid receptor-alpha) showed fusion signal for PML-RARA on both arms of i(17q).     ///    The patient attained complete remission (CR) with all-trans retinoic acid treatment and became PML-RARA negative. '), ('972', 'RET_PTC', '', 'RET', 'PTC', '21436994', '47', '', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'In addition, interphase cell preparations of the same cases were investigated by fluorescence in situ hybridisation (FISH) for the presence of RET/PTC rearrangements using RET-specific DNA probes.     ///    The comparison of visual and automated scoring of FISH signals revealed concordant results in 19 out of 22 cases (87%) indicating reliable scoring results using the optimised scoring parameter for RET/PTC with the automated Metafer4 system.     ///    FISH analysis for RET/PTC rearrangements showed prevalence of this rearrangement in 72% (16 out of 22) of cases. '), ('973', 'BCR_ABL1', '', 'BCR', 'ABL1', '26449660', '47', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'To characterize the subset of ALL with normal karyotype or failed CBA, we performed fluorescence in situ hybridization (FISH) or PCR for BCR-ABL1 and MLL rearrangements as well as array comparative genomic hybridization (aCGH) in 186 adult patients. '), ('974', 'TEL_AML1', '', 'TEL', 'AML1', '20197715', '47', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH', '', '', '', '', '', '', '', 'We performed FISH using LSITEL/AML1 ES probe (Vysis, USA) in 123 children diagnosed as having precursor B-ALL and assessed clinical relevance of the TEL/AML1 rearrangement and additional genetic abnormalities.     ///     TEL (ETV6)/AML1 (RUNX1) rearrangement is observed in approximately 20-25% of childhood precursor B-ALL and is associated with a favorable outcome.     ///    [Prognostic significance of TEL/AML1 rearrangement and its additional genetic changes in Korean childhood precursor B-acute lymphoblastic leukemia]..     ///    We evaluated the prevalence and prognostic significance of TEL/AML1 rearrangement and additional genetic changes in the TEL and AML1 genes in Korean childhood precursor B-ALL.     ///    TEL/AML1-positive group showed a tendency toward better prognosis.     ///    TEL/ AML1-positive group showed male predominance (P=0.012) and younger age of onset than TEL/ AML1-negative group by 1.6 yr (P=0.013).     ///    \"Additional genetic changes, associated with TEL/AML1, are frequently found. \"    ///    The frequency of TEL/AML1 was 17.1% (21/123) in patients with precursor B-ALL.     ///    \"The frequency of TEL/AML1 and additional genetic changes in TEL and AML1 is higher than previous studies in Korean children, and in close agreement with usually reported one, 20-25%. \"    ///    \"The outcome of TEL/AML1-positive group tended to show lower incidences of relapse (1/21 vs 20/102), death (1/21 vs 17/102) and longer event free survival. \"    ///    \"Among TEL/AML1-positive patients, unrearranged TEL deletion, AML1 gain, and unrearranged TEL deletion combined with AML1 gain were detected in 61.9%, 23.8%, and 9.5%, respectively. \"'), ('975', 'ETO_AML1', '', 'ETO', 'AML1', '16791271', '47', 'leukemia\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'We recommend that remission should be confirmed by FISH, because malignant clones can be differentiated and masked in morphological examination or chromosome test, especially for AML with AML1/ETO rearrangement..     ///    \"To clarify the possible mechanisms underlying this phenomenon, we investigated the expression levels of G-CSFR in AML cells with AML1/ETO rearrangement by flow cytometry and real-time polymerase chain reaction (PCR). \"    ///    \"Interestingly, most of these cases had AML with AML1/ETO rearrangement. \"    ///    This study reveals that cases showing remission after treatment with G-CSF mostly had leukemia with AML1/ETO rearrangement.     ///    This finding might be explained by the higher expression of G-CSF receptor in AML1/ETO+ cells than in AML1/ETO- cells.     ///    \"In addition, the G-CSFR gene was more highly expressed in AML1/ETO+ cells than in AML1/ETO- cells by real-time PCR. \"    ///    The number of AML1/ETO+ cells expressing G-CSFR at baseline was significantly higher than that of AML1/ETO- AML cells (2673 vs 522). '), ('976', 'RARA_PML', 't(15;17)(q22;q12) / t(15;17)  / ', 'RARA', 'PML', '22982005', '47', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'A dual color dual fusion PML-RARA FISH probe set identified a small, extra PML signal in a chromosome other than 15 or 17.     ///    \"Microarray, gene sequencing, and reverse transcriptase-polymerase chain reaction analyses of a cryptic PML-RARA translocation.. \"'), ('977', 'MDM2_CPM', '', 'MDM2', 'CPM', '24996689', '47', '', 'FISH ', '', 'Oncogene', '', '', '', '', '', 'Representative cases in each cohort were evaluated by fluorescence in situ hybridization (FISH) for HMGA1 and HMGA2 loci rearrangement and for MDM2/CPM locus amplification. '), ('978', 'IGH_CCND1', '', 'IGH', 'CCND1', '25435723', '47', 'multiple myeloma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Fluorescence in situ hybridization (FISH) assays with FGFR3/IGH, CCND1/IGH, IGH/MAF, RB1 and TP53 probes on bone marrow samples showed that IGH rearrangements were the most common abnormality in the non-hyperdiploid group but these were also found among hyperdiploid patients and patients with normal cytogenetics. '), ('979', 'IGH_BCL2', '', 'IGH', 'BCL2', '25993973', '47', 'sarcoma', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Further fluorescence in situ hybridization (FISH) analyses detected IGH@/BCL2 rearrangement in both the previous follicular lymphoma and the current HS, which was highly suggestive of the clonal relationship between these two tumors. '), ('980', 'IGH_CCND1', 't(3;11)(q25;p15) / t(11;14)(q13;q32) / t(8;14)(q24;q32) / ', 'IGH', 'CCND1', '22259787', '47', 'mantle cell lymphoma;lymphoma\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' The coexistence of CCND1/IGH and MYC rearrangements in mantle cell lymphoma (MCL) is a rare finding associated with a very poor prognosis.     ///    CD5-negative blastoid variant mantle cell lymphoma with complex CCND1/IGH and MYC aberrations.. '), ('981', 'RET_PTC', '', 'RET', 'PTC', '20924280', '47', '', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'Cases were evaluated for rearranged in transformation/papillary thyroid carcinoma RET/PTC rearrangement by fluorescent in situ hybridization (FISH).     ///    No BRAF point mutations or RET/PTC rearrangements were identified in the examined cases. '), ('982', 'RET_PTC', '', 'RET', 'PTC', '25407564', '47', '', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC rearrangement was detected using either RET break-apart FISH followed by multicolor FISH to confirm CCDC6/RET or NCOA4/RET fusions, or by multiplex qPCR to detect 14 RET/PTC subtypes with simultaneous RET mRNA expression.     ///    Our data reveal that both multiplex qPCR and FISH assays are equally applicable for detection of RET/PTC rearrangements.     ///    \"Among 73 PTC patients with sufficient tissue available for FISH and multiplex qPCR, 10 cases were defined as RET/PTC positive by both assays, including eight CCDC6/RET and two NCOA4/RET fusions with relatively high RET mRNA. \"    ///    \"In comparison to FISH, multiplex qPCR displayed 100% sensitivity and 97% specificity to detect RET/PTC fusions, while IHC was neither sensitive nor specific. \"'), ('983', 'RUNX1_ETV6', 't(12;21)  / ', 'RUNX1', 'ETV6', '24740533', '47', 'leukemia\r\r', 'FISH;PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'False positivity of ETV6/RUNX1 detected by FISH in healthy newborns and adults..     ///    Reverse-transcriptase PCR screening may indicate presence of ETV6-RUNX1 transcripts in random cord blood samples. '), ('984', 'HES_CEL', '', 'HES', 'CEL', '17879017', '47', 'leukemia;hypereosinophilic syndrome;polycythemia vera\r\r', 'FISH ', '', '', '', '', '', '', '', 'In CEL/HES the detection of the FIP1L1-PDGFRA fusion gene and overexpression of PDGFRA and PDGFRB led to targeted therapy with tyrosine kinase inhibitors.     ///    \"They are represented by polycythemia vera (PV), chronic idiopathic myelofibrosis (CIMF), essential thrombocythemia (ET), CMPD/unclassifiable (CMPD-U), chronic neutrophilic leukemia (CNL), and chronic eosinophilic leukemia/hypereosinophilic syndrome (CEL/HES) according to the WHO classification. \"'), ('985', 'EML4_ALK', '', 'EML4', 'ALK', '20935334', '47', 'lung cancer;adenocarcinoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' A subset of lung cancers harbours the fusion gene echinoderm microtubule-associated protein-like-4-anaplastic lymphoma kinase (EML4-ALK).     ///    The combined use of morphological feature analysis and immunohistochemistry may be a useful and cost effective screening method for EML4-ALK lung adenocarcinoma.. '), ('986', 'IGH_FGFR3', '', 'IGH', 'FGFR3', '25435723', '47', 'multiple myeloma\r\r', 'FISH ', 'Kinase', '', '', '', '', '', '', 'Fluorescence in situ hybridization (FISH) assays with FGFR3/IGH, CCND1/IGH, IGH/MAF, RB1 and TP53 probes on bone marrow samples showed that IGH rearrangements were the most common abnormality in the non-hyperdiploid group but these were also found among hyperdiploid patients and patients with normal cytogenetics.     ///    \"Of these, FGFR3/IGH rearrangements were most frequent. \"    ///    The FGFR3/IGH fusion was frequently seen with RB1 deletion/monosomy 13.     ///    \"Amp(1q21), FGFR3/IGH fusion, RB1 deletion/monosomy 13, and even TP53 deletion/monosomy 17 were seen in some hyperdiploid patients, suggesting that they have a less than favorable prognosis and require closer monitoring. \"'), ('987', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '26752304', '47', 'prostate cancer', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'We tested the prognostic utility of a three-marker fluorescent in situ hybridization (FISH) panel (TMPRSS2/ERG rearrangements, AR gain, and PTEN deletion) in a retrospective cohort (n = 210.     ///    \"First, PTEN deletion without TMPRSS2/ERG rearrangement was enriched in pT3/4 tumors (70% versus 48%) and tumors with Gleason grades of 8 to 9 (60% versus 17%) compared with the entire cohort. \"    ///    \"Second, AR gain and concurrent trisomy 10 without TMPRSS2/ERG rearrangement were enriched in pT3/4 tumors and tumors with Gleason grades of 8 to 9. \"'), ('988', 'TMPRSS2_ETV4', '', 'TMPRSS2', 'ETV4', '23244085', '47', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'Among the patients with the fusion gene, 46 (83.6%) patients had the TMPRSS2:ERG fusion product, 8 (14.8%) patients had TMPRSS2:ETV1 fusion, 1 (1.6%) patient had TMPRSS2:ETV4.. '), ('989', 'TEL_AML1', '', 'TEL', 'AML1', '16213368', '47', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'To reveal the presence and incidence of the TEL/AML1 rearrangement in adult ALL, we applied fluorescence in situ hybridization (FISH).     ///    We recommend TEL/AML1 FISH in adult ALL patients because conventional cytogenetic studies so far have yielded uninformative results..     ///    \"Of 74 adult ALL patients, 3 (4.0%) showed deletion of the TEL gene without TEL/AML1 rearrangement. \"    ///    We demonstrated the TEL/AML1 rearrangement in 2 patients (2.7%) among 74 patients with ALL.     ///     TEL/AML1 (also known as ETV6/RUNX1) rearrangement is the most frequent genetic change in childhood B-acute lymphoblastic leukemia (ALL) and is associated with a favorable prognosis.     ///    The presence of TEL/AML1 rearrangement and cryptic deletion of the TEL gene in adult acute lymphoblastic leukemia (ALL)..     ///    \"We conducted extra-signal, dual-color fluorescence in situ hybridization (ES-FISH) for TEL/AML1 rearrangement on bone marrow cells from 74 adult ALL patients and analyzed the survival time. \"    ///    \"Its presence in adult ALL, however, has been questionable, and any association between TEL/AML1 rearrangement and clinical prognosis is unknown. \"    ///    \"TEL/AML1 rearrangement is not unique in childhood ALL, and cryptic TEL deletion without TEL/AML1 rearrangement was more frequent than the TEL/AML1 rearrangement in adult ALL. \"    ///    \"The mean survival time of patients with TEL/AML1+ALL and patients with cryptic TEL deletion was 33 and 5 months, respectively, whereas the mean survival time of 53 TEL/AML1-ALL patients was 16.7 months. \"'), ('990', 'TMPRSS2_ETV1', '', 'TMPRSS2', 'ETV1', '23244085', '47', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'Among the patients with the fusion gene, 46 (83.6%) patients had the TMPRSS2:ERG fusion product, 8 (14.8%) patients had TMPRSS2:ETV1 fusion, 1 (1.6%) patient had TMPRSS2:ETV4.. '), ('991', 'RET_NCOA4', '', 'RET', 'NCOA4', '25407564', '47', '', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'RET/PTC rearrangement was detected using either RET break-apart FISH followed by multicolor FISH to confirm CCDC6/RET or NCOA4/RET fusions, or by multiplex qPCR to detect 14 RET/PTC subtypes with simultaneous RET mRNA expression.     ///    \"Among 73 PTC patients with sufficient tissue available for FISH and multiplex qPCR, 10 cases were defined as RET/PTC positive by both assays, including eight CCDC6/RET and two NCOA4/RET fusions with relatively high RET mRNA. \"'), ('992', 'HRX_ALL1', 'p22;q23 / t(9;11)(p22;q23) / t(9;11;22) (p22;q23;q11) / ', 'HRX', 'ALL1', '8630974', '47', 'leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Southern blot analysis showed the rearrangement of the MLL (ALL-1/HRX) gene at 11q23. '), ('993', 'RET_PTC', '', 'RET', 'PTC', '25698220', '47', 'follicular adenoma\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'This study aimed to investigate the prevalence of RET/PTC rearrangement in a cohort of BRAF WT PTCs by fluorescence in situ hybridization (FISH) and to search a reliable cut-off level in order to distinguish clonal or non-clonal RET changes.     ///    Break-apart interphase fluorescence in situ hybridization assay in papillary thyroid carcinoma: on the road to optimizing the cut-off level for RET/PTC rearrangements.. '), ('994', 'RARA_PML', '', 'RARA', 'PML', '24561214', '47', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH;PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Cytogenetically cryptic and FISH-negative PML/RARA rearrangement in acute promyelocytic leukemia detected only by PCR: an exceedingly rare phenomenon.. '), ('995', 'TCF3_PBX1', '', 'TCF3', 'PBX1', '23190578', '46', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Likewise, one each of cases with TCF3-PBX1 fusion and with PAX5 split signal seen by FISH was not visible by cytogenetics.     ///    \"Eight common translocations and rearrangements, including ETV6-RUNX1, TCF3-PBX1, BCR-ABL1, ETV6, TCF3, MLL, IGH@, and PAX5, were tested for using dual-color DNA probes.\"    ///    \"Eight common translocations and rearrangements, including ETV6-RUNX1, TCF3-PBX1, BCR-ABL1, ETV6, TCF3, MLL, IGH@, and PAX5, were tested for using dual-color DNA probes. \"    ///    Two patients with BCR-ABL1 (6.3%) and one with TCF3-PBX1 (3.1%) translocations were also observed. '), ('996', 'NUP98_NSD1', 't(3;5;11)(p25;q35;p15) / t(3;5)(p25;q35) / ', 'NUP98', 'NSD1', '17988990', '46', 'myelodysplastic syndrome;leukemia;hematologic malignancy\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'This translocation produces the expression of 2 in-frame fusion transcripts, the novel ANKRD28-NUP98 and NUP98-NSD1, and 1 out-of-frame NSD1-ANKRD28 transcript. '), ('997', 'EWSR1_ERG', 't(11;22)  / t(21;22)  / ', 'EWSR1', 'ERG', '23706910', '46', 'ewing sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', 'Seq', 'RT-PCR was positive in 27 (84.4%) of 32 patients, including 24 EWSR1-FLI1 and 3 EWSR1-ERG. '), ('998', 'PER1_ETV6', 't(12;17)(p13;p12-p13) / del(12)(p13) / ', 'PER1', 'ETV6', '12661008', '46', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR', '', '', '', '', 'Transcription_Factor', '', '', 'This ETV6-PER1 (antisense PER1 strand) fusion transcript does not produce a fusion protein, and no other fusion transcripts could be detected. '), ('999', 'FLI1_EWSR1', 't(11;22)  / t(21;22)  / ', 'FLI1', 'EWSR1', '23706910', '46', 'ewing sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', 'Seq', 'RT-PCR was positive in 27 (84.4%) of 32 patients, including 24 EWSR1-FLI1 and 3 EWSR1-ERG. '), ('1000', 'TCL6_TCL1A', 't(14;14) / del(14) / t(14;14)(q11;q32) / inv(14)(q11q32) / ', 'TCL6', 'TCL1A', '22553924', '46', 'T cell leukemia;leukemia\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'In summary, we provide evidence that IGH-mediated chromosomal aberrations affecting the 14q32.13/TCL1A-TCL6 region are recurrent in mature B-cell neoplasms with villous lymphocytes. '), ('1001', 'EML4_ALK', '', 'EML4', 'ALK', '23536384', '46', 'lung cancer;adenocarcinoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Reverse transcriptase-polymerase chain reaction analysis of this CB revealed the presence of an EML4-ALK rearrangement, thereby confirming a false-negative FISH result in the CB. '), ('1002', 'NSD1_ANKRD28', 't(3;5;11)(p25;q35;p15) / t(3;5)(p25;q35) / ', 'NSD1', 'ANKRD28', '17988990', '46', 'myelodysplastic syndrome;leukemia;hematologic malignancy\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', '', '', 'This translocation produces the expression of 2 in-frame fusion transcripts, the novel ANKRD28-NUP98 and NUP98-NSD1, and 1 out-of-frame NSD1-ANKRD28 transcript. '), ('1003', 'USP6_SS18', '', 'USP6', 'SS18', '21536237', '46', 'bone cyst', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'There was no evidence of a SS18-USP6 fusion by FISH or RT-PCR. '), ('1004', 'TCRA_IRF4', 't(6;14) / p25;q11.2 / ', 'TCRA', 'IRF4', '18987657', '45', 'T cell lymphoma;B cell lymphoma;anaplastic large cell lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Cytotoxic PTCL-Us involving bone marrow and skin and containing IRF4/TCRA translocations might represent a distinct clinicopathologic entity. '), ('1005', 'MTG16_AML1', '', 'MTG16', 'AML1', '24602728', '45', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'A novel multiplex RT-nPCR assay was developed to detect 16 AML-related fusion genes (AML1-EVI1, AML1-ETO, AML1-MDS1, AML1-MTG16, MLL-AF9, MLL-AF6, MLL-AF10, MLL-ENL, MLL-MLL, PML-RAR?, PLZFRAR?, NPM1-RAR?, CBFB-MYH11, DEK-CAN, SET-CAN and TLS-ERG) according to 2008 WHO classification of AML. '), ('1006', 'DEK_CAN', '', 'DEK', 'CAN', '24602728', '45', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'A novel multiplex RT-nPCR assay was developed to detect 16 AML-related fusion genes (AML1-EVI1, AML1-ETO, AML1-MDS1, AML1-MTG16, MLL-AF9, MLL-AF6, MLL-AF10, MLL-ENL, MLL-MLL, PML-RAR?, PLZFRAR?, NPM1-RAR?, CBFB-MYH11, DEK-CAN, SET-CAN and TLS-ERG) according to 2008 WHO classification of AML. '), ('1007', 'RANBP17_HOX11L2', 't(5;14) / ', 'RANBP17', 'HOX11L2', '12970786', '45', 'T ALL\r\r', 'FISH ', '', '', '', '', '', '', '', 'Involvement of the RANBP17/HOX11L2 locus was ascertained by fluorescence in situ hybridization in six variant or alternative (three-way translocation or cytogenetic partner other than 14q32) translocations out of the 223 patients. '), ('1008', 'MLL_ENL', '', 'MLL', 'ENL', '24602728', '45', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'A novel multiplex RT-nPCR assay was developed to detect 16 AML-related fusion genes (AML1-EVI1, AML1-ETO, AML1-MDS1, AML1-MTG16, MLL-AF9, MLL-AF6, MLL-AF10, MLL-ENL, MLL-MLL, PML-RAR?, PLZFRAR?, NPM1-RAR?, CBFB-MYH11, DEK-CAN, SET-CAN and TLS-ERG) according to 2008 WHO classification of AML. '), ('1009', 'SET_CAN', '', 'SET', 'CAN', '24602728', '45', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'A novel multiplex RT-nPCR assay was developed to detect 16 AML-related fusion genes (AML1-EVI1, AML1-ETO, AML1-MDS1, AML1-MTG16, MLL-AF9, MLL-AF6, MLL-AF10, MLL-ENL, MLL-MLL, PML-RAR?, PLZFRAR?, NPM1-RAR?, CBFB-MYH11, DEK-CAN, SET-CAN and TLS-ERG) according to 2008 WHO classification of AML. '), ('1010', 'MYH11_CBFB', '', 'MYH11', 'CBFB', '24602728', '45', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'A novel multiplex RT-nPCR assay was developed to detect 16 AML-related fusion genes (AML1-EVI1, AML1-ETO, AML1-MDS1, AML1-MTG16, MLL-AF9, MLL-AF6, MLL-AF10, MLL-ENL, MLL-MLL, PML-RAR?, PLZFRAR?, NPM1-RAR?, CBFB-MYH11, DEK-CAN, SET-CAN and TLS-ERG) according to 2008 WHO classification of AML. '), ('1011', 'TLS_ERG', '', 'TLS', 'ERG', '24602728', '45', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'A novel multiplex RT-nPCR assay was developed to detect 16 AML-related fusion genes (AML1-EVI1, AML1-ETO, AML1-MDS1, AML1-MTG16, MLL-AF9, MLL-AF6, MLL-AF10, MLL-ENL, MLL-MLL, PML-RAR?, PLZFRAR?, NPM1-RAR?, CBFB-MYH11, DEK-CAN, SET-CAN and TLS-ERG) according to 2008 WHO classification of AML. '), ('1012', 'MUM1_IRF4', 't(6;14) / p25;q11.2 / ', 'MUM1', 'IRF4', '18987657', '45', 'T cell lymphoma;B cell lymphoma;anaplastic large cell lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Further, due to its involvement in translocations, MUM1/IRF4 protein may play an important biologic role in some PTCLs, and might represent a possible therapeutic target.. '), ('1013', 'MLL_AF10', '', 'MLL', 'AF10', '24602728', '45', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'A novel multiplex RT-nPCR assay was developed to detect 16 AML-related fusion genes (AML1-EVI1, AML1-ETO, AML1-MDS1, AML1-MTG16, MLL-AF9, MLL-AF6, MLL-AF10, MLL-ENL, MLL-MLL, PML-RAR?, PLZFRAR?, NPM1-RAR?, CBFB-MYH11, DEK-CAN, SET-CAN and TLS-ERG) according to 2008 WHO classification of AML. '), ('1014', 'RUNX1_LRP16', 't(11;21)(q13;q22) / ', 'RUNX1', 'LRP16', '17532767', '44', 'myelodysplastic syndrome;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Reciprocal LRP16-RUNX1 fusion was also detected. '), ('1015', 'MLL_ENL', 't(8;21)(q22;q22) / inv(16)(p13q22) / ', 'MLL', 'ENL', '19930410', '44', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Using cell lines, we developed and validated a biochip-based assay called the AMLFusionChip that identifies every FT of AML1-ETO, CBFbeta-MYH11 as well as MLL-AF9, MLL-ENL, MLL-AF6, and MLL-AF10. '), ('1016', 'MLL_AF10', 't(8;21)(q22;q22) / inv(16)(p13q22) / ', 'MLL', 'AF10', '19930410', '44', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Using cell lines, we developed and validated a biochip-based assay called the AMLFusionChip that identifies every FT of AML1-ETO, CBFbeta-MYH11 as well as MLL-AF9, MLL-ENL, MLL-AF6, and MLL-AF10. '), ('1017', 'ETO_AML1', 't(8;21)(q22;q22) / inv(16)(p13q22) / ', 'ETO', 'AML1', '19930410', '44', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Using cell lines, we developed and validated a biochip-based assay called the AMLFusionChip that identifies every FT of AML1-ETO, CBFbeta-MYH11 as well as MLL-AF9, MLL-ENL, MLL-AF6, and MLL-AF10. '), ('1018', 'SSX2_SS18', '', 'SSX2', 'SS18', '24061517', '44', 'synovial sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'Ten cases carried an SS18-SSX2 fusion transcript, and 5 cases showed an SS18-SSX1 transcript by reverse transcription polymerase chain reaction. '), ('1019', 'RFP_RET', 't(6;10)  / p21.3;q11.2 / ', 'RFP', 'RET', '12787916', '44', '', 'FISH', 'Kinase', 'Oncogene', '', '', '', '', '', 'NIH 3T3 fibroblasts stably transfected with a mammalian expression vector encoding full-length Delta RFP/RET readily gave rise to the tumors in athymic mice suggestive of high transforming potential of the fusion protein. '), ('1020', 'EML4_ALK', '', 'EML4', 'ALK', '22610646', '43', 'breast cancer;adenocarcinoma\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In addition, a tissue microarray was constructed to screen for EGFR gene copy gain and EML4-ALK fusion by FISH.    ///    \"In addition, a tissue microarray was constructed to screen for EGFR gene copy gain and EML4-ALK fusion by FISH. \"'), ('1021', 'EML4_ALK', 'inv(2) / ', 'EML4', 'ALK', '26172300', '43', 'colorectal carcinoma;adenocarcinoma\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'One out of 50 CRC patients enrolled in a pathway-directed therapeutic trial was ALK IHC positive (3+) confirmed by ALK FISH and found to harbor the EML4-ALK (E21, A20) fusion variant by CGP.     ///    \"One out of 50 CRC patients enrolled in a pathway-directed therapeutic trial was ALK IHC positive (3+) confirmed by ALK FISH and found to harbor the EML4-ALK (E21, A20) fusion variant by CGP.\"    ///    Growth of a tumor cell line derived from this EML4-ALK CRC patient was inhibited by ALK inhibitors crizotinib and entrectinib. '), ('1022', 'PDGFRB_HCMOGT1', 't(5;17) / ', 'PDGFRB', 'HCMOGT1', '15087372', '43', 'myeloid leukemia', 'FISH;PCR ', 'Kinase', '', '', 'Receptor', '', '', '', 'fluorescence in situ hybridization and reverse transcriptase-PCR analyses confirmed that the translocation resulted in PDGFRB/HCMOGT-1 fusion. '), ('1023', 'DC_CD14', '', 'DC', 'CD14', '10390193', '43', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Fluorescence in situ hybridization (FISH) showed that only some CD1a+/CD14- DC derived from BM of patients with CML expressed the bcr/abl fusion gene.     ///    \"We examined a subpopulation of CD1a+/CD14- DC generated in vitro from BM of normal subjects and patients with CML using granulocyte-macrophage colony-stimulating factor (GM-CSF), tumor necrosis factor-alpha (TNF-alpha) and interleukin-4 (IL-4). \"'), ('1024', 'BCR_ABL1', '', 'BCR', 'ABL1', '19583844', '43', '', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'BCR-ABL1 dual colour, dual fusion FISH (D-FISH) was performed on diagnostic samples of 22 CML patients.     ///    \"Application of tri-colour, dual fusion fluorescence in situ hybridization (FISH) system for the characterization of BCR-ABL1 fusion in chronic myelogenous leukaemia (CML) and residual disease monitoring.. \"    ///     We studied the application of the BCR-ABL1 + 9q34 tri-colour dual fusion fluorescence in situ hybridization (FISH) system in the characterization of fusion signal pattern and the monitoring of residual disease in chronic myelogenous leukaemia (CML).     ///    group 4 (n = 2) with 1G1O1F indicating reciprocal ABL1-BCR deletion.     ///    The added aqua-labelled ASS1 probe was useful in differentiating random signal overlap from genuine BCR-ABL1 fusion in the interphase cells (group 4). '), ('1025', 'MYCN_DDX1', '', 'MYCN', 'DDX1', '17611020', '43', 'neuroblastoma\r\r', 'FISH', '', 'Oncogene', '', '', '', '', '', 'We investigated DDX1/MYCN gain by double-colour FISH on interphase nuclei.     ///    \"Heterogeneous distribution of nuclei displaying DDX1/MYCN gain was observed in almost all tumours, suggesting a clonal evolution of cells with DDX1/MYCN gain. \"    ///    \"Moreover, all patients with DDX1/MYCN gain show a good overall survival but a high frequency of adverse events.. \"'), ('1026', 'SOD1_APP', '17p13.3 / t(17;21) / p13.3;q21.2 / ', 'SOD1', 'APP', '21876345', '43', 'azoospermia', 'FISH', '', '', '', '', '', '', '', 'Dysmorphic features, moderate mental impairment and minor brain malformations could result from the 21q monosomy and particularly the partial deletion of the APP-SOD1 region. '), ('1027', 'RET_PTC', '', 'RET', 'PTC', '23722226', '43', 'thyroid nodule\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', '', '', 'These data corroborate the power of FISH when compared with RT-PCR in quantifying the presence of RET/PTC in FNA and validate the RT-PCR efficiency in detecting clonal RET/PTC alterations.     ///    Assessing RET/PTC in thyroid nodule fine-needle aspirates: the FISH point of view..     ///    \"However, there are caveats associated with the use of the molecular approach in fine-needle aspiration (FNA), particularly for RET/PTC, that should be taken into consideration. \"'), ('1028', 'CAD_ALK', 'inv(2) / ', 'CAD', 'ALK', '26172300', '43', 'colorectal carcinoma;adenocarcinoma\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', '', '', 'One CRC (0.6%) was ALK IHC positive (3+) that was confirmed by ALK FISH and a novel CAD-ALK (C35. '), ('1029', 'ETO_AML1', '', 'ETO', 'AML1', '21120205', '43', 'hematologic malignancy;hematologic malignancy\r\r', 'FISH ', '', '', '', '', '', '', '', 'Interphase FISH was performed using the following probes: BCR/ABL1, AML1/ETO, PML/RARA, CBFB, MLL, EGR1, CEP8, and D7S486 for AML. '), ('1030', 'PDGFRB_KIAA1509', 't(5;14)(q33;q32) / ', 'PDGFRB', 'KIAA1509', '25606057', '43', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', '', '', 'Receptor', '', '', '', 'However, the KIAA1509-PDGFRB fusion was not detected by RT-PCR. '), ('1031', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '19167608', '43', 'acute myeloid leukemia;acute lymphoblastic leukemia;chronic myeloid leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Bone marrow and/or peripheral blood samples were characterized using conventional G-banding techniques and fluorescent in situ hybridization (FISH) techniques with commercially available RUNX1/RUNX1T1 or ETV6/RUNX1 dual-color fusion probes.     ///    \"Eight of these had, by interphase FISH, RUNX1/RUNX1T1 or RUNX1/ETV6 fusion, and 19 had three or more RUNX1 signals not related to fusion with RUNX1T1 or ETV6 gene. \"'), ('1032', 'MARK4_MAP', '', 'MARK4', 'MAP', '12735302', '43', '', 'FISH', 'Kinase', '', '', '', '', '', '', 'Following our previous studies on structural 19q chromosome rearrangements in gliomas, we have undertaken a detailed FISH analysis of the breakpoints and identified a 19q13.2 intrachromosomal amplification of the MAP/microtubule affinity-regulating kinase 4 (MARK4) gene in three primary glioblastoma cell lines. '), ('1033', 'ETO_AML1', '', 'ETO', 'AML1', '11890995', '43', 'leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'The use of other FISH probes (CEP8, c-myc and TEL21) and spectral karyotyping indicated that AML1/ETO fusion occurred as a consequence of a previously undescribed ins(8;21)(q22;q22.1q22.3)..     ///    Dual-color fluorescence in situ hybridization (FISH) using the AML1/ETO probe demonstrated a recombination of both genes on an add(8) chromosome.     ///    The detection of the AML1/ETO fusion has clinical relevance because patients with this subtype have a good prognosis.     ///    Identification of ins(8;21) with AML1/ETO fusion in acute myelogenous leukemia M2 by molecular cytogenetics.. '), ('1034', 'ETV6_ABL1', 't(8;12)(p21;p13) / t(9;12)  / ', 'ETV6', 'ABL1', '12161353', '43', 'acute myeloid leukemia;myeloid leukemia;leukemia;hematologic malignancy\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Our findings provide new information on the heterogeneity of conventional cytogenetics in ETV6/ABL1 positive leukemias, and indicate the putative target cell in this AML is an immature precursor capable of terminally differentiating towards eosinophils..     ///    Clonal eosinophils are a morphologic hallmark of ETV6/ABL1 positive acute myeloid leukemia..     ///    Our objective was to study two new cases of ETV6/ABL1-positive acute myeloid leukemia (AML) and to focus on bone marrow morphology and on molecular cytogenetics of eosinophilic cells.     ///    \"Accordingly, an ETV6/ABL1 fusion signal was detected on der(8) in patient #1, and on der(9) in patient #2. \"    ///    ETV6/ABL1 chimeric proteins have been detected both in lymphoid and myeloid disorders. '), ('1035', 'CD10_BCL2', '', 'CD10', 'BCL2', '25696794', '43', 'follicular lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In selected cases with BCL2-CD10 coexpression, FISH testing could detect patients with poor outcome and require closer monitoring.. '), ('1036', 'ETV6_ABL1', '', 'ETV6', 'ABL1', '23171811', '43', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', 'FISH;PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The ETV6/ABL1 fusion transcript is thought to be a very rare aberration in hematopoietic malignancies.     ///    \"A thorough review of all published cases showed that all 7 reported ALL patients possess the type A ETV6/ABL1 fusion transcript, composed of the first 4 exons of ETV6 fused to the second exon of ABL1. \"    ///    Variant of ETV6/ABL1 gene is associated with leukemia phenotype..     ///    \"We describe two new cases of acute leukemia with the ETV6/ABL1 fusion, acute myeloid leukemia with eosinophilia (case 1) and B acute lymphoblastic leukemia (ALL) (case 2), screened by multiplex RT-PCR. \"    ///    The ETV6/ABL1 fusion was also confirmed by fluorescence in situ hybridization using a mixture of BCR/ABL1 and ETV6/RUNX1 probes.     ///    The presence of the type A fusion transcript strongly implies ALL manifestation in ETV6/ABL1-positive hematologic malignancies as minor BCR breakpoint in BCR/ABL1-positive ALL.. '), ('1037', 'TBP_TAF', 't(6;14)  / t(12;14)  / t(14;15) / 17p11.2 / ', 'TBP', 'TAF', '12168092', '43', 'breast cancer\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', '', '', 'SNAP43, a subunit of the TBP-TAF complex, was expressed 20-fold higher in MDA-MB-231 compared to MCF12A and several breast cancer cell lines, implying that SNAP43 may be involved in tumorigenesis of a specific subset of breast cancers. '), ('1038', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '23489324', '43', 'hematologic malignancy\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Conventional cytogenetics (karyotyping) will detect the majority of abnormalities involving PDGFRB and FGFR1, but florescence in situ hybridization (FISH)/molecular studies are required to detect factor interacting with PAP (FIP1L1)-PDGFRA as the characteristic 4q12 interstitial deletion is cryptic. '), ('1039', 'RARA_PML', '', 'RARA', 'PML', '21120205', '43', 'hematologic malignancy;hematologic malignancy\r\r', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Interphase FISH was performed using the following probes: BCR/ABL1, AML1/ETO, PML/RARA, CBFB, MLL, EGR1, CEP8, and D7S486 for AML. '), ('1040', 'P63_P40', '', 'P63', 'P40', '26711711', '43', 'adenoid cystic carcinoma;adenocarcinoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'and (4) performance of either FISH or p63/p40 immunohistochemistry is expected to be able to confirm the diagnosis of ACC or PLGA in small intraoral biopsies, since both techniques appeared to be diagnostically accurate in this pilot study..     ///    Our aim was to investigate the incidence of (1) MYB rearrangement and (2) p63/p40 immunoreactivity in ACC and PLGA of minor salivary glands (MSGs).     ///    Clinical utility of myb rearrangement detection and p63/p40 immunophenotyping in the diagnosis of adenoid cystic carcinoma of minor salivary glands: a pilot study..     ///    (3) combined p63/p40 immunostaining can be used to differentiate ACC from PLGA in incisionally biopsied specimens. '), ('1041', 'PLAG1_LIFR', '', 'PLAG1', 'LIFR', '23630011', '43', 'pleomorphic adenoma\r\r', 'FISH', '', '', '', '', '', '', '', 'A LIFR-PLAG1 fusion was detected by RACE and then confirmed by FISH in one soft tissue ME tumor with tubular formation.     ///    \"A subset of cutaneous and soft tissue ME tumors appears genetically linked to their salivary gland counterparts, displaying frequent PLAG1 gene rearrangements and occasionally LIFR-PLAG1 fusion.. \"'), ('1042', 'BCR_ABL1', 't(9;22)  / t(9;22) / ', 'BCR', 'ABL1', '22421568', '43', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'It is the BCR/ABL protein that drives the neoplasm and the ABL/BCR is not    necessary for the disease. '), ('1043', 'BCR_ABL1', '', 'BCR', 'ABL1', '20417861', '43', 'hematologic malignancy\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'To identify new genetic aberrations underlying these diseases, we used denaturing high performance liquid chromatography and fluorescence in situ hybridization (FISH) to analyze 17 genes from two receptor-TK families (III and IV) and from three cytoplasmic-TK families (Syk, Abl, and Jak) on samples from 44 BCR/ABL1-negative and JAK2(V617F)-negative CMPN patients with different clinical phenotypes.     ///    A new potential oncogenic mutation in the FERM domain of JAK2 in BCR/ABL1-negative and V617F-negative chronic myeloproliferative neoplasms revealed by a comprehensive screening of 17 tyrosine kinase coding genes..     ///     BCR/ABL1-negative chronic myeloproliferative neoplasms (CMPNs) are a heterogeneous group of clonal hematological malignancies. '), ('1044', 'BCR_ABL1', '', 'BCR', 'ABL1', '21120205', '43', 'hematologic malignancy;hematologic malignancy\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Interphase FISH was performed using the following probes: BCR/ABL1, AML1/ETO, PML/RARA, CBFB, MLL, EGR1, CEP8, and D7S486 for AML.     ///    \"BCR/ABL1, MLL, CDKN2A (p16), ETV6, and 6q21/c-myc for ALL. \"'), ('1045', 'VCFS_DGS', '', 'VCFS', 'DGS', '25435913', '43', 'velocardiofacial syndrome\r\r', 'FISH', '', '', '', '', '', '', '', 'Semen samples from nine DGS/VCFS fathers were analyzed by triple-color FISH using a probe combination that discriminated between normal, deleted and duplicated genotypes.     ///    This study sought to identify DGS/VCFS fathers with increased susceptibility to deletions and duplications at the 22q11.2 region in spermatozoa and to assess the particular contribution of intra-chromatid and/or inter-chromatid NAHR.     ///    \"Accordingly, the screening of sperm anomalies in the 22q11.2 region should be taken into account in the genetic counseling of DGS/VCFS families.. \"    ///    \"A significant increase in 22q11.2 deletions was observed in the sperm of two out of nine DGS/VCFS fathers (odds ratio 2.03-fold, P?<?0.01), and in both cases the deletion in the offspring was transmitted by the father. \"'), ('1046', 'RUNX1T1_RUNX1', '', 'RUNX1T1', 'RUNX1', '19167608', '43', 'acute myeloid leukemia;acute lymphoblastic leukemia;chronic myeloid leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Eight of these had, by interphase FISH, RUNX1/RUNX1T1 or RUNX1/ETV6 fusion, and 19 had three or more RUNX1 signals not related to fusion with RUNX1T1 or ETV6 gene.     ///    Bone marrow and/or peripheral blood samples were characterized using conventional G-banding techniques and fluorescent in situ hybridization (FISH) techniques with commercially available RUNX1/RUNX1T1 or ETV6/RUNX1 dual-color fusion probes. '), ('1047', 'EML4_ALK', '', 'EML4', 'ALK', '25806283', '42', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In our experience, reverse transcription polymerase chain reaction (RT-PCR)-based detection of EML4-ALK is a more sensitive and reliable approach compared to FISH and immunohistochemistry (IHC).    ///    \"Concordance of IHC, FISH and RT-PCR for EML4-ALK rearrangements.. \"    ///    \"In our experience, reverse transcription polymerase chain reaction (RT-PCR)-based detection of EML4-ALK is a more sensitive and reliable approach compared to FISH and immunohistochemistry (IHC). \"    ///     The echinoderm microtubule-associated protein-like 4 anaplastic lymphoma kinase (EML4-ALK) has emerged as the second most important driver oncogene in lung cancer and the first targetable fusion oncokinase to be identified in 4-6% of lung adenocarcinomas. '), ('1048', 'FUS_DDIT3', 't(12;22) (q13;q12) / / ', 'FUS', 'DDIT3', '22089349', '42', 'liposarcoma;sarcoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'All the cases with DDIT3 break-apart also showed FUS-DDIT3 fusion by reverse transcription-polymerase chain reaction, with 100% consistency.    ///    \"All the cases with DDIT3 break-apart also showed FUS-DDIT3 fusion by reverse transcription-polymerase chain reaction, with 100% consistency. \"'), ('1049', 'RET_KIF5B', '', 'RET', 'KIF5B', '23932363', '42', 'adenocarcinoma\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Both FISH and PCR may be useful methods to detect novel KIF5B-RET rearrangements in pulmonary adenocarcinomas rather than IHC.     ///    \"53 cases of lung adenocarcinomas harbored \"\"triple (EGFR, KRAS and ALK)-negative\"\" were tested for KIF5B-RET fusions using whole-transcriptome sequencing, fluorescence in situ hybridization (FISH), immunohistochemistry (IHC), and long-range PCR. \"    ///    All those three patients were also positive in FISH for both KIF5B-RET fusion and RET break-apart probes.     ///    Dual color break-apart probes and KIF5B-RET fusion probes were used for FISH.     ///    Diagnostic method for the detection of KIF5B-RET transformation in lung adenocarcinoma.    ///    Diagnostic method for the detection of KIF5B-RET transformation in lung adenocarcinoma..     ///    Primers designed for 3 different variants of KIF5B-RET fusions were used for long-range PCR.     ///    \" KIF5B-RET fusions have recently been reported to occur in pulmonary adenocarcinomas, thereby being proposed as a novel genetic alteration in adenocarcinoma of the lung. \"'), ('1050', 'NUP214_ABL1', '', 'NUP214', 'ABL1', '17488685', '42', 'T ALL\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The fourth case, with the highest levels of ABL, harbored the NUP214-ABL1 rearrangement, which was confirmed by fluorescence in situ hybridization (FISH).     ///    \"NUP214-ABL1, in adult T-ALL.. \"'), ('1051', 'PRKG2_PDGFRB', 't(4;5) / ', 'PRKG2', 'PDGFRB', '18166785', '42', 'systemic mastocytosis\r\r', 'FISH ', 'Kinase', '', '', 'Receptor', '', '', '', 'Activity of imatinib in systemic mastocytosis with chronic basophilic leukemia and a PRKG2-PDGFRB fusion..     ///    Our results identify a second case of the PRKG2-PDGFRB fusion and confirm the unusual PDGFRB breakpoint associated with this fusion. '), ('1052', 'MLLT11_MLL', 't(4;11) / ', 'MLLT11', 'MLL', '22846743', '42', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', 'FISH ', '', '', '', '', '', 'KB', '', 'The most frequent rearrangement found in patients with acute myeloid leukemia was the MLL-MLLT3 fusion (42%), followed by MLL-MLLT10 (23%), MLL-MLLT1 (8%), MLL-ELL (8%), MLL-MLLT4 (4%), and MLL-MLLT11 (4%). '), ('1053', 'PDGFRA_KIT', '', 'PDGFRA', 'KIT', '26606880', '42', 'sarcoma\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', '', '', 'The screening by FISH of 26 additional cases, including KIT/PDGFRA-mutated GISTs, failed to detect other ETV6 rearrangements beside the index case. '), ('1054', 'MLLT1_MLL', 't(4;11) / ', 'MLLT1', 'MLL', '22846743', '42', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', 'FISH ', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'The most frequent rearrangement found in patients with acute myeloid leukemia was the MLL-MLLT3 fusion (42%), followed by MLL-MLLT10 (23%), MLL-MLLT1 (8%), MLL-ELL (8%), MLL-MLLT4 (4%), and MLL-MLLT11 (4%).     ///    \"In the remaining cases, a MLL-MLLT3 (27%), a MLL-MLLT1 (20%), or MLL-MLLT4 (7%) rearrangement was found. \"'), ('1055', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '12842979', '42', 'systemic mastocytosis', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Deletion of this locus and expression of the FIP1L1-platelet-derived growth factor receptor alpha (PDGFRA) fusion was also documented in enriched eosinophils, neutrophils, or mononuclear cells by both FISH and reverse transcriptase-polymerase chain reaction (RT-PCR) for one patient.     ///    We used fluorescence in situ hybridization (FISH) to detect deletion of the CHIC2 locus at 4q12 as a surrogate for the FIP1L1-PDGFRA fusion.     ///    \"While all 3 patients with the FIP1L1-PDGFRA rearrangement achieved a sustained complete response with imatinib mesylate therapy, the other two, both carrying the c-kit Asp816 to Val (Asp816Val) mutation, did not. \"    ///    These observations suggest that the FIP1L1-PDGFRA rearrangement occurs in an early hematopoietic progenitor and suggests that the molecular pathogenesis for a subset of SMCD patients is similar to that of HES.     ///    Screening for the FIP1L1-PDGFRA rearrangement and Asp816Val mutation will advance rational therapy decisions in SMCD..     ///    \"CHIC2 deletion, a surrogate for FIP1L1-PDGFRA fusion, occurs in systemic mastocytosis associated with eosinophilia and predicts response to imatinib mesylate therapy.. \"'), ('1056', 'PAX5_C20orf112', 'p11-13;q11 / ', 'PAX5', 'C20orf112', '19586940', '42', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR', '', '', '', '', '', '', 'Seq', 'In addition to the three previously reported: PAX5-ASXL1, PAX5-C20ORF112 and PAX5-KIF3B. '), ('1057', 'NUP214_ABL1', '', 'NUP214', 'ABL1', '17488685', '42', 'T ALL\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The fourth case, with the highest levels of ABL, harbored the NUP214-ABL1 rearrangement, which was confirmed by fluorescence in situ hybridization (FISH). '), ('1058', 'BMP4_BMP2', 't(14;20) / t(14;20)(q24;p12) / ', 'BMP4', 'BMP2', '15942943', '42', 'diabetes;Meigs syndromes;thymic carcinoma', 'FISH;PCR', '', '', '', '', '', '', '', 'BMP2 belongs to the TGFbeta superfamily, and the BMP2-BMP4 genes are involved in thymocyte differentiation by blocking progression from CD4-CD8- to CD4+CD8+ while maintaining a sufficient pool of immature precursors. '), ('1059', 'PAX5_KIF3B', 'p11-13;q11 / ', 'PAX5', 'KIF3B', '19586940', '42', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'In addition to the three previously reported: PAX5-ASXL1, PAX5-C20ORF112 and PAX5-KIF3B. '), ('1060', 'MLLT3_MLL', 't(4;11) / ', 'MLLT3', 'MLL', '22846743', '42', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', 'FISH ', '', 'Oncogene', '', '', '', '', 'Seq', 'In the remaining cases, a MLL-MLLT3 (27%), a MLL-MLLT1 (20%), or MLL-MLLT4 (7%) rearrangement was found.     ///    \"The most frequent rearrangement found in patients with acute myeloid leukemia was the MLL-MLLT3 fusion (42%), followed by MLL-MLLT10 (23%), MLL-MLLT1 (8%), MLL-ELL (8%), MLL-MLLT4 (4%), and MLL-MLLT11 (4%). \"'), ('1061', 'MLL_ELL', 't(4;11) / ', 'MLL', 'ELL', '22846743', '42', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'The most frequent rearrangement found in patients with acute myeloid leukemia was the MLL-MLLT3 fusion (42%), followed by MLL-MLLT10 (23%), MLL-MLLT1 (8%), MLL-ELL (8%), MLL-MLLT4 (4%), and MLL-MLLT11 (4%). '), ('1062', 'MLLT10_MLL', 't(4;11) / ', 'MLLT10', 'MLL', '22846743', '42', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', 'FISH ', '', '', '', '', '', 'KB', '', 'The most frequent rearrangement found in patients with acute myeloid leukemia was the MLL-MLLT3 fusion (42%), followed by MLL-MLLT10 (23%), MLL-MLLT1 (8%), MLL-ELL (8%), MLL-MLLT4 (4%), and MLL-MLLT11 (4%). '), ('1063', 'TAL_SIL', 't(5;14) / ', 'TAL', 'SIL', '12970786', '42', 'T ALL\r\r', 'FISH ', '', '', '', '', '', '', '', 'Our results also show that HOX11L2 expression essentially occurs as a result of a 5q35 rearrangement, but is not associated with another identified T-ALL specific recurrent genetic abnormality, such as SIL-TAL fusion or HOX11 expression.. '), ('1064', 'NFIB_MYB', 't(6;9)(q22-23;p23-24) / ', 'NFIB', 'MYB', '26309189', '42', 'adenoid cystic carcinoma\r', 'FISH ', '', '', '', '', '', 'KB', '', 'The MYB-NFIB fusion oncoprotein activates transcription of MYB-mediated pathways that impact cell cycle control, DNA repair, and apoptosis. '), ('1065', 'ETO_AML1', '', 'ETO', 'AML1', '20124335', '42', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'On the other hand, fluorescence in situ hybridization (FISH) for the RUNX1/RUNX1T1 (formerly AML1/ETO) rearrangement revealed 86% interphase nuclei with one fusion signal, which was found to be on the long arm of chromosome 8 on metaphase FISH, indicating the RUNX1/RUNX1T1 rearrangement by cryptic insertion of the RUNX1 gene.     ///    Acute myeloid leukemia with del(X)(p21) and cryptic RUNX1/RUNX1T1 from ins(8;21)(q22;q22q22) revealed by atypical FISH signals..     ///    \"In addition to the cryptic RUNX1/RUNX1T1 rearrangement, this is the first report of partial deletion of an X chromosome as an additional cytogenetic aberration in AML with RUNX1/RUNX1T1.. \"'), ('1066', 'MLLT4_MLL', 't(4;11) / ', 'MLLT4', 'MLL', '22846743', '42', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'The most frequent rearrangement found in patients with acute myeloid leukemia was the MLL-MLLT3 fusion (42%), followed by MLL-MLLT10 (23%), MLL-MLLT1 (8%), MLL-ELL (8%), MLL-MLLT4 (4%), and MLL-MLLT11 (4%).     ///    \"The use of a combined strategy in the initial genetic evaluation of acute leukemia patients allowed us to characterize the pattern of MLL rearrangements in our institution, including our previous discovery of two novel MLL fusion partners, the SEPT2 and CT45A2 genes, and a very rare MLL-MLLT4 fusion variant.. \"    ///    \"In the remaining cases, a MLL-MLLT3 (27%), a MLL-MLLT1 (20%), or MLL-MLLT4 (7%) rearrangement was found. \"'), ('1067', 'MAML2_CRTC1', '', 'MAML2', 'CRTC1', '26796488', '42', 'mucoepidermoid carcinoma', 'FISH ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', ' The CRTC1/MAML2 fusion transcript, which arises from the CRTC1/MAML2 translocation, is a molecular marker unique to mucoepidermoid carcinoma (MEC), the most common malignant tumor of the salivary gland.     ///    CRTC1/MAML2 fusion transcript status.     ///    \"To determine whether the CRTC1/MAML2 fusion transcript is associated with disease stage, tumor grade, or survival outcomes in patients with MEC. \"    ///    Detection of the CRTC1/MAML2 fusion transcript provides useful information for MEC diagnosis but is not associated with differences in survival outcomes..     ///    Fluorescence in situ hybridization revealed a CRTC1/MAML2 translocation in 50 patients (56%).     ///    Role of CRTC1/MAML2 Translocation in the Prognosis and Clinical Outcomes of Mucoepidermoid Carcinoma.. '), ('1068', 'CD7_CD5', 't(6;14) / p25;q11.2 / t(6;14)(p25;q11) / ', 'CD7', 'CD5', '24604141', '42', 'T cell lymphoma;lymphoma\r\r', 'FISH', '', '', '', '', '', '', '', 'Splenectomy showed diffuse red pulp involvement by a pleomorphic medium- to large-cell T-cell lymphoma with a CD2+ CD3+ CD5- CD7- CD4+ CD8+/- CD30- TCRbeta-F1+ immunophenotype, an activated cytotoxic profile, and strong MUM1 expression. '), ('1069', 'PAX5_ASXL1', 'p11-13;q11 / ', 'PAX5', 'ASXL1', '19586940', '42', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR', '', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'In addition to the three previously reported: PAX5-ASXL1, PAX5-C20ORF112 and PAX5-KIF3B. '), ('1070', 'NTRK3_ETV6', '', 'NTRK3', 'ETV6', '15963235', '41', 'breast carcinoma;breast carcinoma\r\r', 'FISH ', 'Kinase', '', '', '', '', 'KB', 'Seq', 'His tumor showed the ETV6-NTRK3 translocation as demonstrated by fluorescent in situ hybridization (FISH).     ///    \"Recently, the tumor was associated with the ETV6-NTRK3 gene translocation. \"'), ('1071', 'NUP98_NSD1', 't(5;11) / del(5q) / 11p15.5 / ', 'NUP98', 'NSD1', '11493482', '41', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'The reciprocal transcript, NSD1-NUP98, was also detected by reverse transcriptase--polymerase chain reaction. '), ('1072', 'MLLT3_MLL', 'del(11)(q21q23) / p22;q23q23 / ', 'MLLT3', 'MLL', '15188459', '41', 'hematologic malignancy', 'FISH;PCR;RT-PCR', '', 'Oncogene', '', '', '', '', 'Seq', 'Here, we report the investigation of a cryptic rearrangement leading to MLL-MLLT3 transcript formation.     ///    The presence of the MLL-MLLT3 transcript is consistent with the clinical findings in this patient..     ///    Cryptic insertion of MLL gene into 9p22 leads to MLL-MLLT3 (AF9) fusion in a case of acute myelogenous leukemia.. '), ('1073', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '24790906', '41', '', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Multiprobe FISH detected the chromosomal aberrations identified by G-banding, as well as additional aberrations in 6 of 30 (20.0%) cases, which included ETV6/RUNX1 translocation, p16 deletion, TP53 deletion, and IGH break-apart. '), ('1074', 'ETV6_CDX2', 't(12;13)(p13;q12) / t(12;13) / ', 'ETV6', 'CDX2', '9920852', '41', 'acute myeloid leukemia;chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR', '', '', '', '', '', 'KB', '', 'Reverse transcription-PCR analysis showed that CDX2 mRNA, but not ETV6-CDX2 mRNA, was strongly expressed in 1 of 10 patients with chronic myeloid leukemia in transformation, suggesting that deregulation of this gene may be more widespread in leukemia.     ///    PCR primers designed to amplify an ETV6-CDX2 fusion identified two major transcripts from this patient. '), ('1075', 'UPS_MFH', '', 'UPS', 'MFH', '25503139', '41', 'histiocytoma', 'FISH', '', '', '', '', '', '', '', 'We investigated five sarcoma-specific chromosomal translocations, five oncogene amplifications as well as the numerical karyotype of 19 UPS samples and one UPS/MFH cell line (U2197) using FISH probes on interphase nuclei. '), ('1076', 'TEL_AML1', '', 'TEL', 'AML1', '16763978', '41', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', ' The TEL-AML1 fusion in precursor-B ALL is generated by a cryptic 12;21 translocation that is detectable by fluorescence in situ hybridization (FISH).     ///    Utilizing FISH to distinguish subgroups of TEL-AML1 fusion patients may have important prognostic implications.     ///    The aim of the study was to determine whether additional copies of TEL-AML1 have clinical significance.     ///    A larger and longer-term follow-up study will be required to verify the possible clinical significance of the presence of multiple TEL-AML1 fusions..     ///    \"Eight patients (7 males/1 female, mean age 46 months) with two or more TEL-AML1 fusion signals and 24 with single TEL-AML1 fusion signals (18 males/6 females, mean age 52 months) were identified. \"'), ('1077', 'SSX1_SS18', '', 'SSX1', 'SS18', '23623359', '41', 'synovial sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', 'KB', '', 'Our new FISH assay has several advantages, including its applicability to paraffin-embedded samples, discrimination of the SS18-SSX1 and SS18-SSX2 translocations particularly in cases with aneuploidy, and potentially detecting translocations in all cases of synovial sarcoma, even with variant translocations. '), ('1078', 'MAML2_CRTC1', '', 'MAML2', 'CRTC1', '26255977', '41', 'squamous cell carcinoma;mucoepidermoid carcinoma\r\r', 'FISH', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Additionally, 20 samples were sent for break-apart FISH testing to evaluate for the presence of the CRTC1-MAML2 translocation.     ///    All cases of ASC were negative for the CRTC1-MAML2 translocation.     ///    We also highlight the importance of the CRTC1-MAML2 translocation in distinguishing ASC from mucoepidermoid carcinoma. '), ('1079', 'EML4_ALK', '', 'EML4', 'ALK', '23533259', '41', 'non small cell lung cancer;lung cancer\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'One patient with an EGFR mutation also showed an EML4-ALK translocation, and both FISH-positive and FISH-negative cells maintained the EGFR mutation.     ///    EGFR mutation analysis can be performed on the same sample previously submitted to the EML4-ALK FISH procedure..     ///    Molecular determinations of EGFR and EML4-ALK on a single slide of NSCLC tissue..     ///    \"FISH analysis was performed on one cytological or histological sample to determine EML4-ALK status, after which the same cells scraped off each slide were used to evaluate the EGFR status. \"'), ('1080', 'RARA_PML', '', 'RARA', 'PML', '8956873', '41', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'GTL-banding and FISH with probes for PML, RARA and chromosome 15 specific paint raise the possibility of PML-RARA fusion on the abnormal chromosome 19 in the complex translocation.     ///    \"RARA-PML fusion was not evident by FISH, but the RARA signal was split in 74.5% of cells. \"'), ('1081', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '19118897', '41', '', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Validation of a new three-color fluorescence in situ hybridization (FISH) method to detect CHIC2 deletion, FIP1L1/PDGFRA fusion and PDGFRA translocations..     ///    \"We studied a new FISH method to detect CHIC2 deletion, FIP1L1/PDGFRA fusion and PDGFRA translocation in patients with myeloid neoplasms associated with eosinophilia. \"'), ('1082', 'MALT1_API2', '', 'MALT1', 'API2', '16952043', '41', 'MALT Lymphoma', 'FISH ', '', '', '', '', '', '', '', 'The absence of genetic translocation of API2-MALT1 was confirmed with fluorescence in situ hybridization (FISH).     ///    Helicobacter pylori-negative / API2-MALT1 translocation-negative low-grade MALT lymphoma..     ///    \"pylori-negative and API2-MALT1 translocation-negative low-grade MALT lymphoma is unknown, and a standard treatment for such lymphoma has yet to be defined. \"    ///     A 71-year-old man with a Helicobacter pylori infection-negative and API2-MALT1 translocation-negative extranodal marginal-zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT) type of the stomach has been followed conservatively for over 5 years. '), ('1083', 'TAL1_SIL', 't(5;14)  / t(5;14)(q35;q32) / ', 'TAL1', 'SIL', '15194534', '41', 'T ALL\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', '', '', 'In addition, HOX11L2 and SIL-TAL1 expression was studied using reverse transcription polymerase chain reaction (RT-PCR). '), ('1084', 'XIST_XIC', '', 'XIST', 'XIC', '9763661', '41', '', 'FISH ', '', '', '', '', '', '', '', 'The position of XIC/XIST in the reciprocal products of the translocation was determined by XIST-specific FISH and computer enhancement.     ///    Our study in differentiated cells provides a visual demonstration that physical separation from XIC/XIST does not result in reactivation of inactive X-chromosome material and that X inactivation is not spread to the translocated autosomes irrespective of the position of XIC/XIST.     ///    Position effect of translocations involving the inactive X chromosome: physical linkage to XIC/XIST does not lead to long-range de novo inactivation in human differentiated cells..     ///    This observation suggests that physical linkage to XIC/XIST does not lead to de novo inactivation of autosomal material..     ///    \"In other experiments, the Xq13 region carrying XIC/XIST was localized by computer enhancement of the DAPI banding pattern. \"'), ('1085', 'NTRK3_ETV6', '', 'NTRK3', 'ETV6', '23021923', '41', 'acinic cell carcinoma;adenocarcinoma\r\r', 'FISH ', 'Kinase', '', '', '', '', 'KB', 'Seq', 'Fluorescence in situ hybridization (FISH) for the ETV6-NTRK3 translocation was performed. '), ('1086', 'SSX2_SS18', '', 'SSX2', 'SS18', '23623359', '41', 'synovial sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'Our new FISH assay has several advantages, including its applicability to paraffin-embedded samples, discrimination of the SS18-SSX1 and SS18-SSX2 translocations particularly in cases with aneuploidy, and potentially detecting translocations in all cases of synovial sarcoma, even with variant translocations. '), ('1087', 'ETO_AML1', 'del(11)(q21q23) / p22;q23q23 / ', 'ETO', 'AML1', '15188459', '40', 'hematologic malignancy', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', '', 'Alternate and cytogenetically undetectable mechanisms of fusion transcript generation have been documented for BCR-AB1, AML1-ETO, PML-RARA, NPM/ALK, and MLL-MLLT2 (AF4). ');
INSERT INTO `ChimerPub_dump` VALUES ('1088', 'NPM_ALK', 'del(11)(q21q23) / p22;q23q23 / ', 'NPM', 'ALK', '15188459', '40', 'hematologic malignancy', 'FISH;PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Alternate and cytogenetically undetectable mechanisms of fusion transcript generation have been documented for BCR-AB1, AML1-ETO, PML-RARA, NPM/ALK, and MLL-MLLT2 (AF4). '), ('1089', 'RARA_PML', 'del(11)(q21q23) / p22;q23q23 / ', 'RARA', 'PML', '15188459', '40', 'hematologic malignancy', 'FISH;PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Alternate and cytogenetically undetectable mechanisms of fusion transcript generation have been documented for BCR-AB1, AML1-ETO, PML-RARA, NPM/ALK, and MLL-MLLT2 (AF4). '), ('1090', 'ABL1_BCR', '', 'ABL1', 'BCR', '17130661', '40', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In addition, some rearrangements are complex, and do not yield the ABL/BCR fusion due to the involvement of a third chromosome in the rearrangement.     ///    \"In the process of generating BCR-ABL fusion, the deletion of residual BCR or ABL occurs in 15-30 percent of CML patients. \"    ///    Patients enrolled in our prospective study of prognostic significance will be followed up for disease free and overall survival in correlation with ABL-BCR deletion status.. '), ('1091', 'MLLT2_MLL', 'del(11)(q21q23) / p22;q23q23 / ', 'MLLT2', 'MLL', '15188459', '40', 'hematologic malignancy', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', '', 'Alternate and cytogenetically undetectable mechanisms of fusion transcript generation have been documented for BCR-AB1, AML1-ETO, PML-RARA, NPM/ALK, and MLL-MLLT2 (AF4). '), ('1092', 'KIF5B_ALK', '', 'KIF5B', 'ALK', '21757253', '40', '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(EML4)-ALK or kinesin family member 5B (KIF5B)-ALK translocation was confirmed by the reverse transcription polymerase chain reaction (RT-PCR) and fluorescence in situ hybridization (FISH). '), ('1093', 'EML4_ALK', '', 'EML4', 'ALK', '21757253', '40', '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(EML4)-ALK or kinesin family member 5B (KIF5B)-ALK translocation was confirmed by the reverse transcription polymerase chain reaction (RT-PCR) and fluorescence in situ hybridization (FISH).     ///    \"Out of 404 cases, there were 14 of EML4-ALK non-small cell carcinoma (NSCLC) and one KIF5B-ALK NSCLC case (8 men, 7 women. \"    ///    The powerful effect of ALK inhibitor on EML4-ALK NSCLC was observed.     ///    The ALK inhibitor presented in this study is effective in EML4-ALK NSCLC cases. '), ('1094', 'FLI1_EWSR1', '', 'FLI1', 'EWSR1', '24675777', '40', 'chronic myeloid leukemia;myeloid leukemia;leukemia;ewing sarcoma;sarcoma;lymphoma\r\r', 'FISH ', '', '', '', '', '', '', 'Seq', 'We demonstrate this method by detecting the BCR-ABL fusion transcripts that occur in chronic myeloid leukemia cells, and by detecting the EWSR1-FLI1 fusion transcripts that occur in Ewing\'s sarcoma cells. '), ('1095', 'BCR_ABL1', '', 'BCR', 'ABL1', '21654069', '40', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'ABL/BCR gene variant with two-step mechanism: Unusual localization and rare/novel chromosomal rearrangements in CML patients.. '), ('1096', 'PTD_MLL', 't(9;11)(p22;q23) / t(1;11)(q21;q23) / t(6;11)(q27;q23) / t(11;19)(q23;p13) / t(5;11)(q31;q23) / ', 'PTD', 'MLL', '23225048', '40', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'The 11q23 translocation and MLL-PTD are mutually exclusive, though both are indicative of poor prognosis.     ///    \"MLL-PTD was also detected in 8 cases (4 cases M5, 2 cases M4, M2 and M6, one case each) from the other childhood AML cases. \"'), ('1097', 'TAF15_NR4A3', 't(9;22)  / t(9;17)  / t(9;15)  / t(9;3)  / ', 'TAF15', 'NR4A3', '24508382', '40', 'chondrosarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Of the 34 samples evaluable for fusion transcripts, 23 yielded positive results for EWSR1-NR4A3, 10 for TAF15-NR4A3, and 1 for TCF12-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. \"'), ('1098', 'BCR_ABL1', 't(1;21)(p36;q22) / 1p36.32 / 1p36.12 / ', 'BCR', 'ABL1', '18767145', '40', 'myeloproliferative disorder;chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Chronic myeloid leukemia (CML) is a myeloproliferative disorder characterized by the presence in leukemic stem cells of the Philadelphia chromosome (Ph) and the formation of the BCR-ABL1 fusion. '), ('1099', 'CD38_CD138', 't(11;14)(q13;q32) / del(13q22) / ', 'CD38', 'CD138', '20376808', '40', 'myeloproliferative disorder;myelodysplastic syndrome;multiple myeloma\r\r', 'FISH ', '', '', '', '', '', '', '', 'The CD38/CD138 was positive but ZAP70 was negative. '), ('1100', 'RARA_PML', 't(15;17;17)(q22;q23;q21) / t(15;17;17)  / ', 'RARA', 'PML', '12885460', '40', 'acute myeloid leukemia;acute promyelocytic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Fluorescence in situ hybridization (FISH) analysis using the PML-RARA DNA probe showed a positive signal pattern (fusion) in 100% of 200 total interphase and metaphase cells examined, confirming the presence of the PML-RARA rearrangement.     ///    \"These studies showed that the PML-RARA fusion was present, but the complementary fusion RARA-PML, which is usually detectable, was absent. \"'), ('1101', 'SSX_SS18', '', 'SSX', 'SS18', '24422953', '40', 'synovial sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Reappraisal of TLE-1 immunohistochemical staining and molecular detection of SS18-SSX fusion transcripts for synovial sarcoma..     ///    A positive correlation between TLE-1 staining and SS18-SSX translocation was detected by conventional PCR (P?<?0.05).     ///     The aim of the present study was to re-evaluate TLE-1 staining and the molecular detection methods of SS18-SSX transcripts for synovial sarcoma. '), ('1102', 'NUT_BRD3', 't(15;19)  / ', 'NUT', 'BRD3', '26001144', '39', '', 'FISH ', 'Kinase', '', '', '', '', '', '', 'Eight cases had a fluorescence in situ hybridization-proven BRD4-NUT or BRD3-NUT rearrangement. '), ('1103', 'P450_CYP11B1', 'inv(3)(p13q24) / ', 'P450', 'CYP11B1', '17556864', '39', 'congenital adrenal hyperplasia', 'FISH;PCR', '', '', '', '', '', '', '', 'This isoenzyme is coded by two highly homologous genes of cytochrome P450: CYP11B1 and CYP11B2 which were mapped to the chromosomal band 8q24. '), ('1104', 'IGH_CCND1', 't(11;14)(q13;q32) / ', 'IGH', 'CCND1', '19594618', '39', 'mantle cell lymphoma', 'FISH;PCR ', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In all cases, the presence of the CCND1/IGH@ rearrangement was confirmed by fluorescence in situ hybridization and/or PCR analysis. '), ('1105', 'NUT_BRD4', 't(15;19)  / ', 'NUT', 'BRD4', '26001144', '39', '', 'FISH ', 'Kinase', '', '', '', '', 'KB', '', 'Eight cases had a fluorescence in situ hybridization-proven BRD4-NUT or BRD3-NUT rearrangement. '), ('1106', 'ZNF198_FGFR1', '', 'ZNF198', 'FGFR1', '25916288', '39', '', 'FISH;PCR', 'Kinase', '', '', '', '', 'KB', '', 'EMS with ins(13;8)(q12;p11p23)/ZNF198 -FGFR1 was a very rare? distinct myeloproliferative neoplasm, the fusion gene and chimeric protein with constitutive activation of the FGFR1 tyrosine kinase..     ///    \"Further molecular studies confirmed a mRNA in-frame fusion between exon 17 of the ZNF198 gene and exon 9 of FGFR1 gene ?the full length ZNF198-FGFR1 was composed of a NH2 terminus of ZNF198 including the ZNF and proline-rich domains, whereas the COOH terminus of FGFR1 included 2 tyrosine kinase domains. \"    ///    We reported here a 8p11 EMS case and provided more details on the clinical and molecular features of ins(13;8)(q12;p11p23)/ZNF198-FGFR1?full length ZNF198-FGFR1 was cloned by overlap extension PCR method?and the literatures on this topic were reviewed.     ///     To improve the understanding of patients with 8p11 myeloproliferative syndrome (EMS) harboring ins(13;8)(q12;p11p23)/ZNF198 -FGFR1.     ///    \"Clinically, the case with ins(13;8)(q12;p11p23)/ZNF198-FGFR1 had distinct hematological and clinical characteristics: hyperleukocytosis, myeloid hyperplasia?widespread adenopathy and lymphoma. \"'), ('1107', 'HES_CEL', 'del(4)(q12) / ', 'HES', 'CEL', '15921374', '39', 'leukemia;hypereosinophilic syndrome\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'c) to investigate whether PDGFRB, FGFR1, ABL1, and ETV6-activated tyrosine kinases are rearranged in CEL/HES. '), ('1108', 'NFIB_HMGA2', 't(9;12)(p22;q14) / t(9;12)  / ', 'NFIB', 'HMGA2', '19837271', '38', '', 'FISH ', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'We describe here the fourth reported case of lipoma showing a HMGA2-NFIB fusion, and the first one in a child.     ///    HMGA2-NFIB fusion in a pediatric intramuscular lipoma: a novel case of NFIB alteration in a large deep-seated adipocytic tumor.. '), ('1109', 'CLTC_ALK', 't(2;17)(p23;q23) / / ', 'CLTC', 'ALK', '12763927', '38', 'B cell lymphoma;anaplastic large cell lymphoma;lymphoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Moreover, these results demonstrate the presence of CLTC-ALK fusions in these tumors and extend the list of diseases associated with this genetic abnormality to include classical T-cell or null ALCL, ALK+ DLBCL, and inflammatory myofibroblastic tumors..'), ('1110', 'PBX1_E2A', 't(1;19)  / t(9;22) / ', 'PBX1', 'E2A', '18633615', '38', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', '', '', 'BCR/ABL was present in two cases, PBX1/E2A in two, and TEL/AML1 in 14.     ///    \"BCR/ABL was present in two cases, PBX1/E2A in two, and TEL/AML1 in 14.\"'), ('1111', 'PDGFB_COL1A1', 't(17;22) / t(2;17)  / t(17;22)  / ', 'PDGFB', 'COL1A1', '9790508', '38', 'dermatofibrosarcoma protuberans;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', '', 'KB', '', 'COL1A1-PDGFB fusion in a ring chromosome 4 found in a dermatofibrosarcoma protuberans.. '), ('1112', 'BCL2_IGH', 't(14;18)  / t(14;18) / ', 'BCL2', 'IGH', '21103627', '38', 'follicular lymphoma;lymphoma\r\r', 'FISH;PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'We intended to find significant correlations among morphological features, histological grades, immunohistochemical findings, and cytogenetical aberrations in malignant follicular lymphomas, in order to identify the prognostic and predictive value of the bcl-2/IgH translocation in these malignancies.     ///    Prognostic and predictive significance of the bcl-2/IgH translocation in malignant follicular lymphomas.. '), ('1113', 'PMAIP1_MALT1', 't(14;18)  / t(14;18) / ', 'PMAIP1', 'MALT1', '16193090', '38', 'non Hodgkin lymphoma;lymphoma\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'The 11 cases with 18q gain only showed a consensus region encompassing 18q21.2-18q21.32 and 18q21.33, which contain PMAIP1/MALT1 and BCL2, respectively.. '), ('1114', 'CD8_CD4', 't(7;15)(p22;q21) / ', 'CD8', 'CD4', '21504708', '38', 'T cell lymphoma;lymphoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Immunophenotypic analysis revealed negativity for CD5 as well as double negativity for CD4/CD8 mature T-cell immunophenotype, which suggested the diagnosis of hepatosplenic T-cell lymphoma. '), ('1115', 'RARA_PML', 't(15;17)  / t(15;17)(q22;q12) / del(6) / t(15;17) / ', 'RARA', 'PML', '21474981', '38', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'FISH signals from a dual color dual fusion translocation PML-RARA probe were consistent with the results of conventional cytogenetics. '), ('1116', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '24098661', '38', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'A three-marker FISH panel detects more genetic aberrations of AR, PTEN and TMPRSS2/ERG in castration-resistant or metastatic prostate cancers than in primary prostate tumors..     ///    \"We analyzed 110 primary prostate cancer samples, 70 metastatic tumor samples from 11 patients, and 27 xenograft tissues derived from 22 advanced prostate cancer patients using fluorescence in situ hybridization (FISH) analysis with probes targeting the TMPRSS2/ERG, PTEN, and AR gene loci. \"    ///    \" TMPRSS2/ERG rearrangement, PTEN gene deletion, and androgen receptor (AR) gene amplification have been observed in various stages of human prostate cancer. \"'), ('1117', 'MYC_IGH', '', 'MYC', 'IGH', '15191563', '38', 'B cell lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Translocations involving the MYC locus were detected in six cases, five of them derived from a MYC/IGH juxtaposition and one from a translocation involving a non-IG gene partner. '), ('1118', 'EML4_ALK', '', 'EML4', 'ALK', '26352533', '38', 'non small cell lung cancer;lung cancer\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'EML4-ALK Fusion Detected by RT-PCR Confers Similar Response to Crizotinib as Detected by FISH in Patients with Advanced Non-Small-Cell Lung Cancer.. '), ('1119', 'NUP214_ABL1', 't(1;3)(p36;p21) / del(6)(q23) / ', 'NUP214', 'ABL1', '16213363', '38', '', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' ABL1 amplification, due to a cryptic episomal translocation NUP214/ABL1, is a novel finding in T-cell acute lymphoblastic leukemia (ALL). '), ('1120', 'MYH11_CBFB', 'inv(16)  / t(16;16)  / ', 'MYH11', 'CBFB', '10800163', '38', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'RT-PCR demonstrated amplification of the CBFB/MYH11 product in all cases analyzed. '), ('1121', 'MYO18A_MLL', 't(1;11;17) / ', 'MYO18A', 'MLL', '22682626', '38', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', '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. '), ('1122', 'TPM4_ALK', '', 'TPM4', 'ALK', '25300797', '37', 'osteosarcoma', 'FISH;PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The identification of fusion genes such as SYT-SSX1/SSX2, PAX3-FOXO1, TPM3/TPM4-ALK and EWS-FLI1 in human sarcomas has provided important insight into the diagnosis and targeted therapy of sarcomas. '), ('1123', 'WWOX_SIRPG', '', 'WWOX', 'SIRPG', '26070663', '37', '', 'FISH', '', '', '', '', 'Transcription_Factor', '', '', 'Three simple translocations fuse genes that are predicted to produce in-frame transcripts of SIRPG-WWOX, SMOC2-PROX1, and PIEZO2-MTA1, which may lead to gain of function. '), ('1124', 'SEPT6_MLL', 't(11;17)  / t(11;17) / ', 'SEPT6', 'MLL', '16897742', '37', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', 'KB', '', 'In the remaining case, a MLL-SEPT6/Xq24 fusion suggested a complex rearrangement. '), ('1125', 'SMOC2_PROX1', '', 'SMOC2', 'PROX1', '26070663', '37', '', 'FISH', '', '', '', '', '', '', '', 'Three simple translocations fuse genes that are predicted to produce in-frame transcripts of SIRPG-WWOX, SMOC2-PROX1, and PIEZO2-MTA1, which may lead to gain of function. '), ('1126', 'RANBP2_ALK', 'inv(2)(p23q21) / ', 'RANBP2', 'ALK', '24613277', '37', 'leukemia\r\r', 'FISH;PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'We detected an ALK rearrangement using fluorescence in situ hybridization, identified the ALK fusion partner by using RNA transcriptome sequencing, and demonstrated the RANBP2-ALK fusion transcript by reverse transcriptase--PCR and Sanger sequencing.     ///    \"Our results, together with a literature review, suggest the RANBP2-ALK fusion combined with monosomy 7 may be related to a unique clonal hematologic disorder of childhood and adolescence, characterized by myelomonocytic leukemia and a poor prognosis.. \"    ///    RANBP2-ALK fusion combined with monosomy 7 in acute myelomonocytic leukemia.. '), ('1127', 'NAG_ELMO1', 't(2;7) / 2p24.3 / 7p14.2 / ', 'NAG', 'ELMO1', '19407829', '37', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Although this study does not provide direct evidence that a defect in NAG-ELMO1 plays a role in the pathogenesis or the leukemic change in MDS, it does suggest that defects in NAG-ELMO1 potentially contributed to the leukemic progression in this case.. '), ('1128', 'ETO_AML1', '', 'ETO', 'AML1', '19350517', '37', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'RT-PCR analysis detected the AML1-ETO fusion transcript.     ///    Reverse transcription polymerase chain reaction (RT-PCR) assay for detecting the AML1-ETO fusion transcript was also performed.     ///    \"Three fluorescence in situ hybridization (FISH) analyses were performed using AML1-ETO dual color, dual fusion probe, whole chromosome painting 8 and 21 probes, and cen-8 and Tel 21qter probes, respectively. \"'), ('1129', 'SYT_SSX2', 'p11.2;q11.2 / ', 'SYT', 'SSX2', '8579118', '37', 'synovial sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'This was consistent with cytogenetic data in four cases and reverse transcription polymerase chain reaction analysis using primers known to amplify both SYT-SSX1 and SYT-SSX2 transcripts. '), ('1130', 'MYO18A_FGFR1', 't(8;17)(p11;q23) / t(8;17)  / ', 'MYO18A', 'FGFR1', '15800673', '37', 'myeloproliferative disorder', 'FISH;PCR ', 'Kinase', '', '', '', '', '', '', 'MYO18A-FGFR1 is structurally similar to other fusion tyrosine kinases and is likely to be the causative transforming lesion in this unusual MDS/MPD.. '), ('1131', 'SYT_SSX1', 'p11.2;q11.2 / ', 'SYT', 'SSX1', '8579118', '37', 'synovial sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'This was consistent with cytogenetic data in four cases and reverse transcription polymerase chain reaction analysis using primers known to amplify both SYT-SSX1 and SYT-SSX2 transcripts. '), ('1132', 'PAX3_FOXO1', '', 'PAX3', 'FOXO1', '25300797', '37', 'osteosarcoma', 'FISH;PCR;RT-PCR', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', ' The identification of fusion genes such as SYT-SSX1/SSX2, PAX3-FOXO1, TPM3/TPM4-ALK and EWS-FLI1 in human sarcomas has provided important insight into the diagnosis and targeted therapy of sarcomas. '), ('1133', 'NUT_BRD4', 't(15;19) / ', 'NUT', 'BRD4', '24457244', '37', 'squamous cell carcinoma\r\r', 'FISH ', 'Kinase', '', '', '', '', 'KB', '', 'Immunohistochemical staining for NUT was positive, and dual-color break-apart fluorescence in situ hybridization demonstrated BRD4-NUT rearrangement, thereby confirming a diagnosis of NMC.     ///    \"The resultant BRD4-NUT fusion oncogene leads to global hypoacetylation and transcriptional repression of genes required for differentiation.\"\" Although it was first reported in 1991 by Kubonishi et al., awareness of this condition remains low and the diagnosis is overlooked initially in a number of patients. \"'), ('1134', 'PIEZO2_MTA1', '', 'PIEZO2', 'MTA1', '26070663', '37', '', 'FISH', '', '', '', '', 'Transcription_Factor', '', '', 'Three simple translocations fuse genes that are predicted to produce in-frame transcripts of SIRPG-WWOX, SMOC2-PROX1, and PIEZO2-MTA1, which may lead to gain of function. '), ('1135', 'TPM4_TPM3', '', 'TPM4', 'TPM3', '25300797', '37', 'osteosarcoma', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', '', ' The identification of fusion genes such as SYT-SSX1/SSX2, PAX3-FOXO1, TPM3/TPM4-ALK and EWS-FLI1 in human sarcomas has provided important insight into the diagnosis and targeted therapy of sarcomas. '), ('1136', 'FUS_CREB3L2', '', 'FUS', 'CREB3L2', '26135531', '36', 'pelvic neoplasm', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'In view of this we assessed DOG1 expression in 10 other LGFMS (all MUC4 positive, and 9 molecularly confirmed to harbor FUS-CREB3L2 fusion transcripts and/or FUS or EWSR1 gene rearrangement), of which 5 showed DOG1 expression in up to 75% of tumor cells, varying in intensity from weak to strong.    ///    \"In view of this we assessed DOG1 expression in 10 other LGFMS (all MUC4 positive, and 9 molecularly confirmed to harbor FUS-CREB3L2 fusion transcripts and/or FUS or EWSR1 gene rearrangement), of which 5 showed DOG1 expression in up to 75% of tumor cells, varying in intensity from weak to strong. \"    ///    \"After referral to a tertiary center, repeat DOG1 immunohistochemistry again showed diffuse expression, but MUC4 was also positive, and this was confirmed to be LGFMS, harboring FUS-CREB3L2 fusion transcripts by reverse transcription-polymerase chain reaction and FUS rearrangement with fluorescence in situ hybridization. \"'), ('1137', 'JAK2_ETV6', '', 'JAK2', 'ETV6', '17976519', '36', 'myeloproliferative disorder;non Hodgkin lymphoma;multiple myeloma;lymphoma;polycythemia vera\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'The data also identified a myriad of JAK2 rearrangements, including a novel JAK2-NF-E2 interaction, JAK2 translocation to chromosomes 3, 4, 12, 14, and 21 and detection of the previously described rare TEL/ETV6-JAK2 translocation. '), ('1138', 'BCR_ABL1', '', 'BCR', 'ABL1', '23190578', '36', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Eight common translocations and rearrangements, including ETV6-RUNX1, TCF3-PBX1, BCR-ABL1, ETV6, TCF3, MLL, IGH@, and PAX5, were tested for using dual-color DNA probes.     ///    Two patients with BCR-ABL1 (6.3%) and one with TCF3-PBX1 (3.1%) translocations were also observed.     ///    \"Cytogenetics analysis showed a single case each of BCR-ABL1 fusion, MLL, and IGH@ rearrangements (3.1% each). \"'), ('1139', 'IGH_BCL2', '', 'IGH', 'BCL2', '23246412', '36', 'B cell lymphoma;lymphoma\r\r', 'FISH', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'FISH analyses showed three cases with more than one rearrangement: one MYC/BCL2 and two BCL2/BCL6, in addition to which one case with BCL2/IGH translocation and another with MYC rearrangement were also detected. '), ('1140', 'NFE2_JAK2', '', 'NFE2', 'JAK2', '17976519', '36', 'myeloproliferative disorder;non Hodgkin lymphoma;multiple myeloma;lymphoma;polycythemia vera\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'The data also identified a myriad of JAK2 rearrangements, including a novel JAK2-NF-E2 interaction, JAK2 translocation to chromosomes 3, 4, 12, 14, and 21 and detection of the previously described rare TEL/ETV6-JAK2 translocation. '), ('1141', 'BCL6_BCL2', '', 'BCL6', 'BCL2', '23246412', '36', 'B cell lymphoma;lymphoma\r\r', 'FISH', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'FISH analyses showed three cases with more than one rearrangement: one MYC/BCL2 and two BCL2/BCL6, in addition to which one case with BCL2/IGH translocation and another with MYC rearrangement were also detected. '), ('1142', 'MYC_BCL2', '', 'MYC', 'BCL2', '23246412', '36', 'B cell lymphoma;lymphoma\r\r', 'FISH', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'FISH analyses showed three cases with more than one rearrangement: one MYC/BCL2 and two BCL2/BCL6, in addition to which one case with BCL2/IGH translocation and another with MYC rearrangement were also detected. '), ('1143', 'BCR_ABL1', '', 'BCR', 'ABL1', '10748292', '36', '', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The expected pattern for this probe is one green ABL signal (1G) on the normal 9, one red BCR signal (1R) on the normal 22, and two fusion signals, BCR/ABL and ABL/BCR (2F), on a derivative 22 and a derivative 9, respectively. '), ('1144', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '23190578', '36', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Eight common translocations and rearrangements, including ETV6-RUNX1, TCF3-PBX1, BCR-ABL1, ETV6, TCF3, MLL, IGH@, and PAX5, were tested for using dual-color DNA probes.     ///    ETV6-RUNX1 was the most frequent translocation detected in 11 children (34.4%).     ///    ETV6-RUNX1 fusion and ETV6 split-apart rearrangements were not visible by cytogenetics.     ///    All patients with the ETV6-RUNX1 fusion were also identified by split signals for ETV6. '), ('1145', 'RARA_PML', 't(15;17)(q22;q12) / t(15;17)  / ', 'RARA', 'PML', '16056248', '35', 'sweet syndrome', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Nuclei were extracted from core biopsies of the formalin-fixed paraffin-embedded tissue and fluorescence in situ hybridization was performed using a dual color, dual fusion PML / RARA probe. '), ('1146', 'MLL_CT45A2', '', 'MLL', 'CT45A2', '20920256', '35', 'biphenotypic acute leukemia', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'RNA analysis revealed the presence of a novel MLL-CT45A2 fusion transcript in which the first 9 exons of the MLL gene were fused in-frame to exon 2 of the CT45A2 gene, resulting in a spliced MLL fusion transcript with an intact open reading frame. '), ('1147', 'AE3_AE1', 't(15;19)  / ', 'AE3', 'AE1', '24655834', '35', '', 'FISH ', '', '', '', '', '', '', '', 'Immunohistochemical staining demonstrated a strong positivity for vimentin and NUT, with focal CD138 and only spotty EMA and cytokeratin AE1/AE3 staining. '), ('1148', 'CCNE_CDK2', '12p13.1 / ', 'CCNE', 'CDK2', '7882310', '35', 'leukemia;mesothelioma\r\r', 'FISH ', 'Kinase', '', '', '', 'Transcription_Factor', '', '', 'p27 binds to and inhibits complexes formed by cyclin E-cdk2, cyclin A-cdk2, and cyclin D-cdk4. '), ('1149', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '25625310', '35', 'prostate cancer\r\r', 'FISH', '', '', '', '', '', 'KB', 'Seq', ' Prostate cancer is characterized by structural rearrangements, most frequently including translocations between androgen-dependent genes and members of the ETS family of transcription factor like TMPRSS2:ERG. '), ('1150', 'PAX3_FOXO1', '', 'PAX3', 'FOXO1', '22447499', '35', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'Expression studies demonstrated that the fusion transcripts were generally expressed at higher levels in amplified cases, and that the PAX7-FOXO1 fusion transcript was expressed at higher levels than the PAX3-FOXO1 fusion transcript. '), ('1151', 'CCNA_CDK2', '12p13.1 / ', 'CCNA', 'CDK2', '7882310', '35', 'leukemia;mesothelioma\r\r', 'FISH ', 'Kinase', '', '', '', 'Transcription_Factor', '', '', 'p27 binds to and inhibits complexes formed by cyclin E-cdk2, cyclin A-cdk2, and cyclin D-cdk4. '), ('1152', 'ZNF198_FGFR1', 't(8;22)  / t(8;22)(p11;q11) / ', 'ZNF198', 'FGFR1', '11739186', '34', 'myeloproliferative disorder;chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', '', '', '', '', 'KB', '', 'The growth of BaF3/BCR-FGFR1 and BaF3/ZNF198-FGFR1 was not significantly inhibited by treatment with STI571, but was inhibited by SU5402, a compound with inhibitory activity against FGFR1.     ///    Expression of BCR-FGFR1 in the factor-dependent cell line Ba/F3 resulted in interleukin 3-independent clones that grew at a comparable rate to cells transformed with ZNF198-FGFR1.     ///    \"Inhibition with this compound was associated with decreased phosphorylation of ERK1/2 and BCR-FGFR1 or ZNF198-FGFR1, and was dose dependent with an inhibitory concentration of 50% of approximately 5 microM. \"'), ('1153', 'FGFR1_BCR', 't(8;22)  / t(8;22)(p11;q11) / ', 'FGFR1', 'BCR', '11739186', '34', 'myeloproliferative disorder;chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Inhibition with this compound was associated with decreased phosphorylation of ERK1/2 and BCR-FGFR1 or ZNF198-FGFR1, and was dose dependent with an inhibitory concentration of 50% of approximately 5 microM.     ///    \"The growth of BaF3/BCR-FGFR1 and BaF3/ZNF198-FGFR1 was not significantly inhibited by treatment with STI571, but was inhibited by SU5402, a compound with inhibitory activity against FGFR1. \"    ///    Expression of BCR-FGFR1 in the factor-dependent cell line Ba/F3 resulted in interleukin 3-independent clones that grew at a comparable rate to cells transformed with ZNF198-FGFR1. '), ('1154', 'IRF4_MUM1', '', 'IRF4', 'MUM1', '22665537', '34', 'B cell lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Paraffin-embedded lymphoma samples from 193 patients with de novo DLBCL who were uniformly treated with rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP) were studied using immunohistochemistry for MYC, BCL2, CD10, BCL6, and MUM1/interferon regulatory factor 4, and fluorescent in situ hybridization (FISH) for MYC and BCL2. '), ('1155', 'P13_P11', 't(3;7)(q27;p12) / ', 'P13', 'P11', '10753856', '34', 'B cell lymphoma;lymphoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Molecular genetic analysis of the breakpoint area involving BCL6 revealed the presence of the Ikaros gene, a central regulator of lymphoid differentiation that had been mapped to human chromosome 7 band p13-p11.1. '), ('1156', 'TEL_AML1', '', 'TEL', 'AML1', '11343784', '34', 'acute biphenotypic leukemia', 'FISH ', '', '', '', '', '', '', '', 'To investigate the incidence of TEL/AML1 fusion and TEL deletion, bone marrow specimens from 77 Korean children with newly diagnosed acute leukemia were analyzed by FISH.     ///    We applied extra-signal FISH to discriminate a true TEL/AML1 fusion from a false-positive fusion signal.     ///    \" TEL/AML1 fusion in acute leukemia results from cryptic translocation of chromosome 12 and 21, the presence of which suggests a favorable prognosis. \"    ///    \"The incidence of TEL/AML1 fusion in B-lineage ALL is approximately 25%, but the incidence in Korea has not yet been reported. \"    ///    The frequency of patients with TEL/AML1 fusion was 13.3% (4 cases) among 30 B-lineage ALL and 9.5% among 42 ALL.     ///    Low incidence of TEL/AML1 fusion and TEL deletion in Korean childhood acute leukemia by extra-signal fluorescence in situ hybridization..     ///    TEL/AML1 fusion was not found in any samples from patients with T-lineage ALL or AML.     ///    \"To determine the cut-off value of the TEL/AML1 fusion signal, 20 normal bone marrow specimens and 28 normal peripheral blood specimens were also analyzed. \"    ///    \"The incidences of TEL/AML1 fusion and TEL deletion in Korean children with acute leukemia appear to be lower than those in other countries, suggesting a racial difference.. \"'), ('1157', 'SSX4_SSX1', '', 'SSX4', 'SSX1', '23623359', '34', 'synovial sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'We used two sets of two-color break-apart FISH probes, flanking either the SSX1/SSX4 or SSX2 locus.     ///    \"This assay can detect translocation at either SSX1/SSX4, or SSX2 locus on interphase spread prepared from synovial sarcoma cell line and histopathological sections, which is sufficient to diagnose as synovial sarcoma. \"    ///    \"Each set of probes is composed of differentially labeled DNA fragments complementary to sequences proximal or distal to the break point within the SSX1/SSX4 or SSX2 locus, which are applied separately to histopathological sections. \"'), ('1158', 'MALT1_API2', '', 'MALT1', 'API2', '17122510', '34', 'MALT lymphoma;B cell lymphoma;lymphoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'One hundred thirty-three paraffin-embedded North American primary MALT lymphoma specimens from diverse anatomic sites were studied by fluorescence in situ hybridization (FISH) using probes for API2-MALT1, IGH-MALT1, IGH-BCL10, IGH-FOXP1, IGH, +/- centromeres 3, 7, 12, and 18, and a subset (n=74) were analyzed using FISH probes for IGK, IGL, and BCL6.     ///    \"Translocations were mutually exclusive and were detected in 26% of cases (17% API2-MALT1, 5% IGH-MALT1, 3% IGH-unknown translocation partner, and 1% IGH-BCL10). \"    ///    \"There was striking site specificity, with API2-MALT1 showing a marked predilection for lung and intestine, and IGH-MALT1 and IGH-BCL10 occurring almost exclusively in lung. \"    ///    Aneuploidy was associated with IGH-MALT1 and IGH-BCL10 but only rarely with API2-MALT1. '), ('1159', 'P15_P14', '5p15.2 / ', 'P15', 'P14', '9741467', '34', '', 'FISH ', '', '', '', '', '', '', '', 'Partial tetrasomy with triplication of chromosome (5) (p14-p15.33) in a patient with severe multiple congenital anomalies.. '), ('1160', 'PAX7_FKHR', '', 'PAX7', 'FKHR', '11807989', '34', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', ' In this investigation, we selected PAX3/FKHR and PAX7/FKHR fusion transcript-positive and -negative alveolar rhabdomyosarcomas (ARMSs) and embryonal rhabdomyosarcomas (ERMSs) with and without anaplastic features, to ascertain genomic imbalance differences and/or similarities within these histopathologic and genetic rhabdomyosarcoma (RMS) variants. '), ('1161', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '11807989', '34', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', ' In this investigation, we selected PAX3/FKHR and PAX7/FKHR fusion transcript-positive and -negative alveolar rhabdomyosarcomas (ARMSs) and embryonal rhabdomyosarcomas (ERMSs) with and without anaplastic features, to ascertain genomic imbalance differences and/or similarities within these histopathologic and genetic rhabdomyosarcoma (RMS) variants. '), ('1162', 'ALK_A2M', 't(2;12)(p23;p13) / ', 'ALK', 'A2M', '24965693', '34', '', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'Identification of novel ALK rearrangement A2M-ALK in a neonate with fetal lung interstitial tumor.. '), ('1163', 'RARA_PML', '', 'RARA', 'PML', '16405439', '34', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'We report a unique case of a PML/RARA positive APL patient exhibiting extensive monocytic differentiation after ATRA therapy as documented by morphology, flow cytometry, and FISH studies.     ///    We discuss potential dual capability for granulocytic/monocytic differentiation of PML/RARA positive APL cells and implications of monocytic differentiation in the management of APL patients treated with ATRA..     ///    The resultant fusion protein (PML/RARA) is thought to block differentiation of bone marrow cells arrested at the promyelocytic stage. '), ('1164', 'P53_ATM', '', 'P53', 'ATM', '22093823', '34', '', 'FISH', 'Kinase', '', 'Tumor_suppressor', '', '', '', '', 'The FISH analysis revealed that ATM/p53-dependent G1 checkpoint suppresses dicentric frequency, since RNAi-mediated knockdown of p53 elevated dicentric frequency by 1.5-fold. '), ('1165', 'TMPRSS2_ETV1', '', 'TMPRSS2', 'ETV1', '17632455', '33', 'prostate cancer\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', 'Seq', '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).     ///    \"Of 82 cases examined, TMPRSS2-ETV1 fusion was seen in only one case, by FISH. \"'), ('1166', 'BP2_BP1', '', 'BP2', 'BP1', '17268193', '33', 'angelman syndrome\r\r', 'FISH', '', '', '', '', '', '', '', 'To our knowledge a microdeletion limited only to the BP1-BP2 region has not yet been reported. '), ('1167', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '25692052', '33', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'High-Risk Microgranular Acute Promyelocytic Leukemia with a Five-Way Complex Translocation Involving PML-RARA.. '), ('1168', 'PAX7_PAX3', '6p21.32 / 6p11.2 / ', 'PAX7', 'PAX3', '18043289', '33', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'By fluorescence in situ hybridization analysis, the marker chromosome was identified as originating from chromosome 6, and the tumor cells were negative for PAX3/PAX7 disrupting translocations specific for alveolar RMS. '), ('1169', 'VCFS_DGS', '', 'VCFS', 'DGS', '18179902', '33', 'velocardiofacial syndrome\r\r', 'FISH ', '', '', '', '', '', '', '', 'About 97% of patients with DGS/VCFS have either a common recurrent approximately 3 Mb deletion or a smaller, less common, approximately 1.5 Mb nested deletion.     ///    \"We conclude that distal deletions of chromosome 22q11.2 between LCR22-4 and LCR22-6, although they share some characteristic features with DGS/VCFS, represent a novel genomic disorder distinct genomically and clinically from the well-known DGS/VCF deletion syndromes.. \"'), ('1170', 'RARA_PML', '', 'RARA', 'PML', '25666852', '33', 'acute promyelocytic leukemia;leukemia;sarcoma\r\r', 'FISH', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Flow cytometry indicated presence of 92.4% of immature myeloid cells with t (15: 17) and q (22: 12) mutations, and FISH analysis for PML-RARA demonstrated a long-form fusion transcript, positive for APL. '), ('1171', 'IGH_BCL2', 't(8;14)  / t(14;18)  / ', 'IGH', 'BCL2', '15613866', '33', 'follicular lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Moreover, fluorescence in situ hybridization performed on paraffin-embedded tissue sections demonstrated an immunoglobulin heavy chain (IGH)/BCL2 translocation signal in both follicular and diffuse components, but an IGH/c-MYC translocation signal in only the diffuse component. '), ('1172', 'SSX_SS18', 'p11;q11 / ', 'SSX', 'SS18', '12696068', '33', 'synovial sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', '', 'Because SS18/SSX fusions do not seem to occur in other tumor types, and because synovial sarcomas may sometimes be difficult to distinguish from other spindle cell tumors, molecular genetic analysis has become established as an important diagnostic tool. '), ('1173', 'RUNX1T1_RUNX1', 't(8;21) (q22;q22) / t(8;21) / ', 'RUNX1T1', 'RUNX1', '24035334', '33', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'In five cases with increased mast cells in which targeted-FISH analysis was performed for RUNX1-RUNX1T1, fusion signals demonstrated the translocation in mast cells in all cases.     ///    RUNX1-RUNX1T1.. '), ('1174', 'DLX2_DLX1', '', 'DLX2', 'DLX1', '7896287', '33', '', 'FISH', '', '', '', '', '', '', '', 'Unambiguous results led us to map these genes and to orient the HOXD locus along chromosome 2 according to the following order: cen, NEB, DLX1-DLX2, EVX2, HOXD (5\'-3\'), TTN, tel. '), ('1175', 'PDGFRB_NIN', 't(5;14)(q33;q24) / t(5;14)  / ', 'PDGFRB', 'NIN', '15087377', '33', 'myeloproliferative disorder\r\r', 'FISH;PCR ', 'Kinase', '', '', 'Receptor', '', '', '', 'After treatment with imatinib, the patient achieved hematological and cytogenetical remission, but NIN-PDGFRB mRNA remained detectable by reverse transcription-PCR.. '), ('1176', 'RET_PTC3', '', 'RET', 'PTC3', '16595592', '32', 'papillary carcinoma\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', '', '', 'real-time RT-PCR to quantify RET/PTC1, RET/PTC3, and c-RET transcripts. '), ('1177', 'KIAA1549_BRAF', '', 'KIAA1549', 'BRAF', '21884820', '32', 'pilocytic astrocytoma\r\r', 'FISH;PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We developed a panel of FFPE-compatible quantitative RT-PCR assays for the most common KIAA1549-BRAF fusion transcripts.     ///    Detection of KIAA1549-BRAF fusion transcripts in formalin-fixed paraffin-embedded pediatric low-grade gliomas..     ///    \"KIAA1549-BRAF fusion transcripts have been detected in frozen tissue, however, methods for FFPE tissue have not been reported. \"'), ('1178', 'EWSR1_ERG', '', 'EWSR1', 'ERG', '18615675', '32', 'ewing tumor; nephroblastoma\r\r', 'FISH', '', '', '', '', '', 'KB', 'Seq', 'This approach revealed several submicroscopic chromosomal aberrations and three different seemingly balanced translocations, resulting in a heterozygous deletion of HACE1, an EWSR1/ERG fusion, and an EWSR1/FLI1 fusion, respectively. '), ('1179', 'SPTBN1_FLT3', 'p13;q12 / ', 'SPTBN1', 'FLT3', '17764812', '32', 'chronic myeloid leukemia', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'Although FLT3 abnormalities are uncommon in aCML, SPTBN1-FLT3 is a novel constitutively active tyrosine kinase that appears to responsive to both targeted signal transduction therapy and immunotherapy..     ///    A constitutively active SPTBN1-FLT3 fusion in atypical chronic myeloid leukemia is sensitive to tyrosine kinase inhibitors and immunotherapy..     ///    Expression of SPTBN1-FLT3 transformed Ba/F3 cells to growth factor independence and was accompanied by constitutive phosphorylation of the fusion protein and the downstream substrate extracellular signal-regulated kinase 1/2. '), ('1180', 'BCR_ABL1', '', 'BCR', 'ABL1', '19837272', '32', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Real-time-polymerase chain reaction studies on peripheral blood showed b3a2(p210) and e1a2(p190) BCR/ABL1 fusion transcripts.     ///     We report a case of chronic myeloid leukemia in chronic stage with 48 chromosomes and four BCR/ABL1 fusion signals on two out of three chromosomes 9 and two signals on the two Philadelphia chromosomes.     ///    \"Cytogenetic, fluorescence in situ hybridization, and molecular characterization of chronic myeloid leukemia in chronic phase with four BCR/ABL1 fusion signals: a case report.. \"'), ('1181', 'FLI1_EWSR1', '', 'FLI1', 'EWSR1', '18615675', '32', 'ewing tumor; nephroblastoma\r\r', 'FISH', '', '', '', '', '', '', 'Seq', 'This approach revealed several submicroscopic chromosomal aberrations and three different seemingly balanced translocations, resulting in a heterozygous deletion of HACE1, an EWSR1/ERG fusion, and an EWSR1/FLI1 fusion, respectively. '), ('1182', 'EML4_ALK', '', 'EML4', 'ALK', '23453647', '32', 'large cell carcinoma', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'ALK translocation status was constant between BM and primary tumors in 16 evaluable cases including two cases with ALK-EML4 translocations Among these 16 cases ALK amplification was seen in two BM and none of the primary tumors. '), ('1183', 'FLI1_EWSR1', '', 'FLI1', 'EWSR1', '12522555', '32', 'ewing sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', 'Seq', 'Comparing results obtained for the EWSR1/FLI1 and ABL1/BCR genes in samples of patients suffering from Ewing sarcoma or chronic myelogenous leukaemia, it can be concluded that the mean positions of the fusion genes are determined by the final structure of the chimeric chromosomes and do not depend on the location of the translocation event.. '), ('1184', 'EML4_ALK', '', 'EML4', 'ALK', '25757141', '32', 'non small cell lung cancer;lung cancer\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Of these 115 samples, 79 (69%) were negative for echinoderm microtubule-associated protein like 4 (EML4)-ALK translocation, nine (8%) were positive and 27 (23%) were unevaluable. '), ('1185', 'DCTN1_ALK', '', 'DCTN1', 'ALK', '25813404', '32', 'non small cell lung cancer;lung cancer\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'furthermore, the DCTN1/ALK fusion was also found in another NSCLC sample with unbalanced 5\'/3\'-end ALK expression, indicating a recurrent nature of this translocation. '), ('1186', 'BCR_ABL1', '', 'BCR', 'ABL1', '12522555', '32', 'ewing sarcoma;sarcoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Comparing results obtained for the EWSR1/FLI1 and ABL1/BCR genes in samples of patients suffering from Ewing sarcoma or chronic myelogenous leukaemia, it can be concluded that the mean positions of the fusion genes are determined by the final structure of the chimeric chromosomes and do not depend on the location of the translocation event.. '), ('1187', 'BCR_ABL1', '', 'BCR', 'ABL1', '15723338', '32', 'myeloproliferative disorder', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Of the 14 patients who showed an ABL gene deletion by ES-FISH, 5 had an ABL deletion only, 5 had both a BCR and an ABL deletion, but 4 proved to have a classic BCR/ABL rearrangement without a submicroscopic deletion, as determined by D-FISH. '), ('1188', 'MYH11_CBFB', '', 'MYH11', 'CBFB', '25732229', '32', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Of the seven patients with favorable cytogenetics, PML/RARA, CBFB-MYH11 or RUNX1-RUNX1T1 fusion transcripts were detected at various levels in six patients but all patients remained in complete remission. '), ('1189', 'FLI_EWS', '', 'FLI', 'EWS', '17134738', '32', 'nephroblastoma;neuroectodermal tumor', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', '', 'Of 7 primary tumors that had the EWS/FLI-1 fusion transcript by RT-PCR, 6 exhibited strong immunopositivity for FLI-1. '), ('1190', 'MYH9_ALK', 't(2;22) / p23;q11.2 / ', 'MYH9', 'ALK', '12800156', '32', 'anaplastic large cell lymphoma;lymphoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'If further investigations confirm this latter result, the in vivo tyrosine phosphorylation of MYH9-ALK protein could involve mechanisms different from those described in the other ALK hybrid proteins..     ///    \"In contrast to the previously reported ALK fusion proteins, MYH9-ALK may lack a functional oligomerization domain. \"    ///    Nucleotide sequence of the MYH9-ALK chimeric cDNA revealed that the ALK breakpoint was different from all those previously reported. '), ('1191', 'MSN_ALK', 't(2;22) / p23;q11.2 / ', 'MSN', 'ALK', '12800156', '32', 'anaplastic large cell lymphoma;lymphoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'It is localized in the same exonic sequence as MSN-ALK, but 6 bp downstream, resulting in an in-frame fusion of the two partner proteins. '), ('1192', 'TEL_AML1', '', 'TEL', 'AML1', '19672974', '32', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Compared to Europe, the ALL population in Nicaragua is older, has a higher proportion of poor prognostic clinical and hematological features and receives more intensive treatment, while patients with TEL/AML1 translocations and high-hyperdiploidy are clinically in the standard risk group.     ///    \"FISH analysis demonstrated a TEL/AML1 fusion in 9/66 (14%), BCR/ABL fusion in 1 (1.5%), MLL rearrangement in 2 (3.1%), iAMP21 in 2 (3.1%), MYC rearrangement in 1 (1.5%), and high-hyperdiploidy in 16 (24%). \"    ///    All patients but two with TEL/AML1 fusion and high-hyperdiploidy were clinically and hematologically in the standard risk group whereas those with poor cytogenetic factors had clinical high-risk features and were treated intensively. '), ('1193', 'ROS1_FIG', '', 'ROS1', 'FIG', '24992173', '32', 'colorectal carcinoma;lung cancer;adenocarcinoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'Recently, small studies of colorectal carcinomas (CRCs) have suggested an incidence of EML4-ALK translocations of 0.4% to 2.4% and FIG-ROS1 translocations of 0.8%. '), ('1194', 'EML4_ALK', '', 'EML4', 'ALK', '24992173', '32', 'colorectal carcinoma;lung cancer;adenocarcinoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Recently, small studies of colorectal carcinomas (CRCs) have suggested an incidence of EML4-ALK translocations of 0.4% to 2.4% and FIG-ROS1 translocations of 0.8%. '), ('1195', 'ETO_AML1', 't(8;21) / ', 'ETO', 'AML1', '18156748', '32', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', ' We report a case that revealed the characteristics of acute myeloblastic leukemia with maturation (AML-M2) on the morphology of the bone marrow biopsy and 45,X,-Y in conventional cytogenetic study, but was confirmed to have a typical AML1/ETO translocation by molecular studies using reverse transcriptase polymerase chain reaction and fluorescence in situ hybridization.     ///    \"Insertion of ETO gene on chromosome 8 into chromosome 21 in this patient resulted in the development of the chimeric gene, AML1/ETO, on the long arm of chromosome 21. \"'), ('1196', 'RUNX1T1_RUNX1', '', 'RUNX1T1', 'RUNX1', '25732229', '32', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Of the seven patients with favorable cytogenetics, PML/RARA, CBFB-MYH11 or RUNX1-RUNX1T1 fusion transcripts were detected at various levels in six patients but all patients remained in complete remission. '), ('1197', 'MYC_IGH', '', 'MYC', 'IGH', '23179209', '32', 'non Hodgkin lymphoma;B cell lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Break-apart probes for BCL6 and c-MYC, as well as fusion probes for the c-MYC/IGH and the IGH/BCL2 translocations were used. '), ('1198', 'EML4_ALK', '', 'EML4', 'ALK', '25755678', '32', 'gastrointestinal cancer;signet ring cell carcinoma', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' ALK-EML4 translocation is an established driver aberration in non-small cell lung cancer (NSCLC), with reported predilection for cases with signet ring histology. '), ('1199', 'TMPRSS2_ETV1', '', 'TMPRSS2', 'ETV1', '24815454', '31', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2:ERG, TMPRSS2:ETV1 and TMPRSS2:ETV4 fusions were tested by multi-probe fluorescence in situ hybridization (FISH) assay.     ///    Neither TMPRSS2:ETV1 nor TMPRSS2:ETV4 fusion was found in any case.    ///    They also lack TMPRSS2:ETV1 and TMPRSS2:ETV4 fusion.     ///    \"We evaluated TMPRSS2:ERG, TMPRSS2:ETV1 and TMPRSS2:ETV4 fusions in more than 100 Eastern Chinese prostate cancer patients. \"'), ('1200', 'EML4_ALK', '', 'EML4', 'ALK', '24999991', '31', 'breast cancer', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Blood samples were completely separated into plasma, CTCs and PBMCs components and each fraction were characterized with immunophenotyping (Pan-cytokeratin/CD45, CD44/CD24, EpCAM), fluorescence in-situ hybridization (FISH) (EML4-ALK) or targeted somatic mutation analysis.    ///    \"Blood samples were completely separated into plasma, CTCs and PBMCs components and each fraction were characterized with immunophenotyping (Pan-cytokeratin/CD45, CD44/CD24, EpCAM), fluorescence in-situ hybridization (FISH) (EML4-ALK) or targeted somatic mutation analysis. \"'), ('1201', 'KIAA1549_BRAF', '', 'KIAA1549', 'BRAF', '22568401', '31', 'pilocytic astrocytoma\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Fluorescence in situ hybridization (FISH) analysis of 26 low-grade diffuse gliomas with BRAF gain additionally revealed BRAF-KIAA1549 fusion in one oligodendroglioma.     ///    Sequencing of cDNA in 17 low-grade diffuse gliomas showed BRAF-KIAA1549 fusion in another oligodendroglioma.     ///     Chromosomal 7q34 duplication and BRAF-KIAA1549 fusion is a characteristic genetic alteration in pilocytic astrocytomas.     ///    \"These results suggest that low-grade diffuse gliomas with 1p/19q loss have frequent BRAF gains, and a small fraction of oligodendrogliomas may show BRAF-KIAA1549 fusion.. \"'), ('1202', 'SLC44A1_PRKCA', '', 'SLC44A1', 'PRKCA', '26671581', '31', '', 'FISH;PCR;RT-PCR ', 'Kinase', '', '', '', '', '', '', 'SLC44A1-PRKCA fusion seems to be a specific characteristic of PGNT with a high diagnostic value and detectable by FISH..     ///    fluorescence in situ hybridization analysis revealed a constant SLC44A1-PRKCA fusion signal in all PGNTs.     ///    Papillary glioneuronal tumors: histological and molecular characteristics and diagnostic value of SLC44A1-PRKCA fusion..     ///    \"The current study aimed at raising the cytogenetic, histological and molecular profiles of PGNT and to determine if SLC44A1-PRKCA fusion represented a specific diagnostic marker to distinguish it from other glioneuronal tumors. \"    ///    None of PGNT mimics showed the SLC44A1-PRKCA fusion signal pattern.     ///    \"We report on four pediatric cases of PGNT, along with clinico-radiologic and immunohistological features for which SLC44A1-PRKCA fusion assessment by fluorescence in situ hybridization, BRAF V600E and FGFR1 mutation by immunohistochemistry and direct DNA sequencing and KIAA1549-BRAF fusion by RT-PCR were performed. \"'), ('1203', 'MYC_GAPDH', '', 'MYC', 'GAPDH', '19302034', '31', 'gastric cancer\r\r', 'FISH;PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The tissue MYC/GAPDH ratio by real-time PCR was significantly correlated with MYC status by FISH (p<0.001).     ///    \"The plasma MYC/GAPDH ratio from cancer patients was significantly correlated with the tissue MYC/GAPDH ratio (p=0.009), and tissue MYC status by FISH (p=0.024). \"    ///    \"These findings suggest that the plasma MYC/GAPDH ratio, as determined by real-time PCR, may be an alternative non-invasive approach for detecting gastric cancer.. \"    ///    We used receiver-operating characteristics (ROC) curve analysis to select two optimal plasma MYC/GAPDH cut-offs of 2.725 and 5.225.     ///    \"The mean ratio of plasma MYC/GAPDH was 5.226+/-3.578 (range: 1.25-18.35) in gastric cancer patients, and 2.436+/-0.881 (range: 1.00-5.00) in the healthy volunteers (p<0.001). \"'), ('1204', 'BCR_ABL1', '', 'BCR', 'ABL1', '26636412', '31', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'However, FISH with BCR-ABL1 dual fusion probes gave a positive signal in 152/200 analyzed nuclei, with the fusion signal detected on the long arm of a cytogenetically normal chromosome 9.     ///    \"However, after 6 months of imatinib therapy, she had to be considered as warning (Ph+ 26.5%, BCR-ABL1 >1%) according to the European LeukemiaNet 2013 recommendations. \"'), ('1205', 'FRAXE_FRAXA', '', 'FRAXE', 'FRAXA', '16691600', '31', 'hypospadia;perivascular epithelioid cell tumors', 'FISH', '', '', '', '', '', '', '', 'High resolution banding, FRAXA/FRAXE DNA analysis, and subtelomere FISH analysis were performed in all of them, and all had normal results. '), ('1206', 'KOX1_KOX', '', 'KOX1', 'KOX', '12697996', '31', '', 'FISH', '', '', '', '', '', '', '', ' The chromosome locations of 368 human Kruppel-type zinc finger (ZNF) PAC clones were physically mapped by FISH to human chromosomes in support of recent efforts of assigning KOX cDNAs (KOX1-KOX32) to zinc finger gene clusters. '), ('1207', 'IGH_CCND1', '', 'IGH', 'CCND1', '22328174', '31', 'plasma cell dyscrasia;plasma cell myeloma', 'FISH', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Abnormalities detected by FISH analysis using an IGH@/CCND1 probe set were seen in 54% with RS, and 44% with column-based. '), ('1208', 'PTEN_DMBT1', '', 'PTEN', 'DMBT1', '17465990', '31', '', 'FISH ', '', '', 'Tumor_suppressor', '', '', '', '', 'Paraffin-embedded tissue sections were used for FISH analysis of EGFR, chromosomes 9p21 (p16/CDKN2A) and 10q ( PTEN/DMBT1). '), ('1209', 'TCRD_TCRA', '', 'TCRD', 'TCRA', '9605848', '31', '', 'FISH ', '', '', '', '', '', '', '', 'Chromosomal mapping by fluorescence in situ hybridization (FISH) of Valpha and Cdelta clones localized the TCRA/TCRD locus on sheep chromosome region 7q14-->q22.     ///    Assignment of the TCRA/TCRD locus to sheep chromosome bands 7q1.4-->q2.2 by fluorescence in situ hybridization..     ///     Two genomic clones for the TCRA/TCRD locus have been isolated and characterized in sheep. '), ('1210', 'DSG3_DSG2', '', 'DSG3', 'DSG2', '24934917', '31', 'basal cell carcinoma', 'FISH ', '', '', '', '', '', '', '', 'To comparatively examine expression of Dsg2/Dsg3, using fluorescent in situ hybridization (FISH) and immunohistochemistry (IHC) in BCC subtypes.     ///    \"Expressions of Dsg2/Dsg3 protein and Dsg2/Dsg3 mRNA were evaluated using IHC and FISH, respectively, in BCC nests and BCC-free epidermis, and then quantitatively measured. \"    ///    Different Dsg2/Dsg3 expression in sBCC and nBCC might corroborate the possibility that sBCC and nBCC are separate conditions.     ///    \"Because more prominent aberrations of Dsg2/Dsg3 expression were seen at the protein than at the mRNA level in BCC, these comparative observations indicate greater importance of events at the proteome level than those at the genome level in tumour functional compartments. \"'), ('1211', 'P24_P23', '', 'P24', 'P23', '9268099', '31', 'cleidocranial dysplasia', 'FISH', '', '', '', '', '', '', '', 'A phage P1 genomic clone spanning most of the BMP6 gene hybridized to chromosome 6 in band region p23-p24 using FISH analysis, placing this gene cytogenetically more distal than the region of linkage for CCD. '), ('1212', 'LIMK1_ELN', '', 'LIMK1', 'ELN', '19012340', '31', 'supravalvular aortic stenosis', 'FISH', 'Kinase', '', '', '', '', '', '', 'Standard cytogenetic analysis using the ELN cosmid 82C and the ELN/ LIMK1 cosmid 34B FISH probes suggested a diagnosis of Williams syndrome. '), ('1213', 'WT1_PAX6', 't(10;11)(p13;p13) / ', 'WT1', 'PAX6', '11920832', '31', 'aniridia', 'FISH ', '', '', '', '', 'Transcription_Factor', '', '', 'When deletion involves its adjacent genes, i.e., those in the PAX6-WT1 critical region (WTCR), patients are predisposed to Wilms tumor. '), ('1214', 'SMS_RARA', '', 'SMS', 'RARA', '17050068', '31', 'Smith-Magenis syndrome', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'We describe novel application of SMS/RARA FISH probes for assessing cases with complex Her-2/CEP17 FISH patterns. '), ('1215', 'BCR_ABL1', '', 'BCR', 'ABL1', '24598655', '31', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'BCR/ABL1 level was detected by RQ-PCR and FISH assays. '), ('1216', 'DR5_DR4', '', 'DR5', 'DR4', '16675563', '31', 'malignant glioma', 'FISH ', '', '', '', '', '', '', '', 'A combination of G-banding/spectral karyotyping and FISH further defined the loss or gain of gene copy of these genes and further showed the simultaneous loss of one copy of DR4/DR5, caspase-8, Bid, and Smac in two near-triploid cell lines that were resistant to the combination treatment with TRAIL and chemotherapy. '), ('1217', 'NEU_HER2', '', 'NEU', 'HER2', '22938586', '31', 'breast cancer\r\r', 'FISH ', '', '', '', '', '', '', '', 'about half of the HER2/ neu overexpressing cases (9.8%) did not show amplification by FISH.     ///    \"even though a relationship with human epidermal growth factor receptor 2 (HER2/ neu ) status has been reported, other studies have shown that coincident centromere 17 (Cep17) amplification may be the cause of an overestimation of chromosome 17 polysomy in fluorescence in situ hybridization (FISH) testing. \"    ///    \"A total of 647 cases of invasive ductal breast cancer were collected and subjected to FISH analysis for HER2/neu gene and centromere 17 alteration, HercepTest for HER2/ neu protein expression, and routine immunohistochemistry for Ki-67 and hormone receptor status. \"    ///    \"(1) Centromere 17-altered cases are frequently HER2/ neu overexpressing but not amplified, resulting in HercepTest/FISH disagreement. \"    ///    \"To evaluate polysomy/amplification of Cep17 in invasive breast cancer with relation to proliferative activity (Ki-67), estrogen receptor, progesterone receptor, and HER2/ neu status, in an attempt to identify a subgroup of patients with a worse prognosis. \"    ///    \"Within this group, HER2/neu gene amplification was detected in 14.1% of cases, whereas HER2/ neu expression was scored 3+ in 20.1% of cases. \"'), ('1218', 'PAX3_FOXO1A', '', 'PAX3', 'FOXO1A', '22319971', '31', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'We report a case of a primary alveolar rhabdomyosarcoma of the liver in a 59 year old female, confirmed by histological examination using immunohistochemical analysis (positive actin, desmin, vimentin and myogenin staining) and fluorescent in situ hybridization (FISH) analysis (positivity for PAX3/FOXO1A fusion). '), ('1219', 'IGF2_H19', '', 'IGF2', 'H19', '12651894', '31', '', 'FISH ', '', '', '', '', '', '', '', 'Analysis of replication fork movement and three-dimensional RNA and DNA fluorescent in situ hybridization (FISH) analysis of the Igf2-H19 locus in various cell types indicate that the Igf2-H19 imprinting center differentially regulates replication timing of nearby replicons and subnuclear localization. '), ('1220', 'FKHL13_CDK3', '', 'FKHL13', 'CDK3', '9858813', '31', '', 'FISH ', 'Kinase', '', '', '', '', '', '', 'We then developed large-insert YAC, BAC, PAC, or P1 clones to the following 24 known genes, and determined refined map locations along the same FLpter scale: pter-TP53-TOP3-cen-TNFAIP1-ERBB2-TOP2A- BRCA1-TCF11-NME1-HLF-ZNF147/CL N80-BCL5/MPO/SFRS1-TBX2-PECAM1-DDX5/ PRKCA-ICAM2-GH1/PRKAR1A-GRB2-CDK3 /FKHL13-qter. '), ('1221', 'EML4_ALK', '', 'EML4', 'ALK', '20228600', '31', 'lung cancer;adenocarcinoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'On the other hand, the commercially available chromosomal fluorescent in situ hybridization (FISH) analysis showed split signals of ALK, which was confirmed to be the EML4-ALK inversion. '), ('1222', 'RARA_PML', '', 'RARA', 'PML', '17960172', '31', '', 'FISH', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The presence of a single PML-RARA isoform lacking exon 5 in FISH-negative APL samples.. '), ('1223', 'ETO_AML1', '', 'ETO', 'AML1', '21638933', '31', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Using the multiprobe AML/MDS panel designed to detect upto eight different FISH probes, which was for AML1/ETO transfusion gene, PML-RAR? transfusion gene, CBF?/MYH11 transfusion gene, MLL breakapart, P53 deletion,Del(5q), Del(7q), Del(20q), 40 cases of AML were investigated.     ///    \"22 of the 40 AML cases were found to carry 7 types of cytogenetic abnormalities by multiprobe FISH panel including AML1/ETO transfusion gene, PML-RARa transfusion gene, MLL breakapart, P53 deletion, Del (5q), Del7q and trisomy 8. \"    ///    \"Patiens with AML1/ETO or PML-RARa transfusion gene are easily to reach CR in the first induction chemotherapy, while the Del(7q), MLL breakapart, complex cytogenetic abnormalities may indicate poor prognosis. \"'), ('1224', 'MDM2_CDK4', '', 'MDM2', 'CDK4', '17895748', '31', 'dedifferentiated liposarcoma', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'To evaluate the accuracy of fluorescence in situ hybridization (FISH) analysis in the differential diagnosis of adipose tissue tumors, we investigated MDM2-CDK4 status by FISH, real-time polymerase chain reaction (PCR) [quantitative PCR (Q-PCR)] and immunohistochemistry (IHC) in a series of 200 adipose tumors.     ///    \"In conclusion, we recommend that the evaluation of MDM2-CDK4 amplification using FISH or Q-PCR be used to supplement IHC analysis when diagnosis of adipose tissue tumors is not possible based on clinical and histologic information alone.. \"    ///    Detection of MDM2-CDK4 amplification by fluorescence in situ hybridization in 200 paraffin-embedded tumor samples: utility in diagnosing adipocytic lesions and comparison with immunohistochemistry and real-time PCR..     ///    \"First, we evaluated MDM2-CDK4 amplification and expression in a series of 94 well-defined adipose tissue tumors. \"'), ('1225', 'PTEN_DMBT1', '', 'PTEN', 'DMBT1', '15099021', '31', 'oligodendroglioma\r\r', 'FISH', '', '', 'Tumor_suppressor', '', '', '', '', 'We characterized 138 of 189 (73%) available primary and recurrent oligodendroglial neoplasms from 80 patients, utilizing paired FISH probes for 1p32/1q42, 19p13/19q13, CEP7/EGFR, CEP9/p16, and PTEN/DMBT1. '), ('1226', 'MYCN_MYC', '', 'MYCN', 'MYC', '23578955', '31', 'medulloblastoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In conclusion, our analysis confirms that aCGH is as safe as FISH for the detection of MYC/MYCN gene amplification. '), ('1227', 'MYCN_ALK', '', 'MYCN', 'ALK', '23797004', '31', 'neuroblastoma', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'We evaluated MYCN/ALK gene copy number by fluorescence in situ hybridization (FISH) and detected ALK protein expression by immunohistochemistry (IHC) in 188 NBL, 52 GNBL and 6 GN samples and analyzed their association with clinical outcome of the patients.     ///    A better prognosis trend was observed in patients with MYCN/ALK gain tumors compared with those with MYCN/ALK normal tumors.     ///    ALK positivity in NTs correlated with advanced tumor types and MYCN/ALK gene copy number increases.     ///    \"In addition, ALK positivity also significantly correlates with MYCN/ALK gene copy number increases (P<0.05). \"    ///    Kaplan-Meier survival analysis indicated that MYCN/ALK amplification is correlated with decreased overall survival in NBL. ');
INSERT INTO `ChimerPub_dump` VALUES ('1228', 'FCM_CD45', '', 'FCM', 'CD45', '19490757', '31', 'leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'When only samples containing leukemic cells demonstrated by chromosomal or fluorescence in situ hybridization (FISH) analysis after induction were evaluated, positive correlations were found between CD33+ cell percentages determined by FCM/CD45 and myeloblast percentages determined by morphology (r=0.672, p<0.001).     ///    The identification of CD33+ cells by FCM/CD45 is useful for the evaluation of bone marrow myeloblasts in AML..     ///    \"The CD33+ cell percentages evaluated by FCM/CD45 were strongly correlated to the myeloblast percentages determined by microscopic examination (r=0.8360, p<0.001). \"    ///    \"Using flow cytometry with a CD45-blast gate (FCM/CD45), 226 bone marrow aspiration samples serially collected from 71 patients with de novo AML were analyzed. \"'), ('1229', 'DLX2_DLX1', '', 'DLX2', 'DLX1', '11060466', '31', '', 'FISH', '', '', '', '', '', '', '', ' In this study we have used FISH to examine the relationship between a group of homeobox genes, namely DLX1/DLX2, EVX2 and four HOXD genes (10, 11, 12, 13), that map to region q31 on chromosome 2, and the FRA2G and FRA2H fragile sites located at 2q31 and 2q32.1 respectively. '), ('1230', 'BCR_ABL1', '', 'BCR', 'ABL1', '21381013', '31', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The current study was conducted to compare simultaneously obtained bone marrow (BM) cytogenetics (CTG), peripheral blood (PB) and BM fluorescence in situ hybridization (FISH), and quantitative real-time polymerase chain reaction (Q-PCR) for BCR-ABL1 in monitoring response to treatment with tyrosine kinase inhibitors and homoharringtonine (HHT) in patients with chronic myeloid leukemia (CML).     ///    \"PB and BM FISH (n = 112 samples) and/or Q-PCR (n = 132 samples) for BCR-ABL1 were simultaneously obtained in 70 patients with Philadelphia chromosome-positive (Ph+) CML in chronic (68%), accelerated (16%), and blast phase (16%) before the initiation of therapy and during the course of treatment with imatinib (IM) (n = 40 patients), dasatinib (n = 20 patients), nilotinib (n = 4 patients), bosutinib (n = 18 patients), or HHT (n = 4 patients) for patients with newly diagnosed (n = 13 patients), IM-sensitive (n = 34 patients), IM-resistant (n = 30 patients), or IM-intolerant (n = 9 patients) disease. \"'), ('1231', 'DMD_BMD', '', 'DMD', 'BMD', '16608904', '31', 'Becker muscular dystrophy;Duchenne and Becker muscular dystrophies', 'FISH;PCR', '', '', '', '', '', '', '', 'We have established PGD for DMD/BMD using interphase fluorescence in situ hybridization (FISH) analysis on single nuclei from blastomeres for the detection of deletions of specific exons in the dystrophin gene.     ///    \"In two-thirds of DMD/BMD cases, the mutation is a large deletion of one or several exons. \"'), ('1232', 'CDKN2B_CDKN2A', '', 'CDKN2B', 'CDKN2A', '10644453', '31', 'melanoma\r\r', 'FISH ', 'Kinase', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Double-color fiber FISH mapping confirmed the location of PLAA centromeric to D9S171 and CDKN2A/CDKN2B.     ///    Yeast artificial chromosome (YAC) mapping localized PLAA proximal to the CDKN2A/CDKN2B genes and to a region flanked by D9S171 and INFA commonly deleted in many neoplasms. '), ('1233', 'PAX3_FOXO1', '', 'PAX3', 'FOXO1', '24730567', '31', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'On FISH testing, none of the 10 tumours exhibited RMS1 (PAX3-FOXO1) or RMS 2 (PAX7-FOXO1) fusion. '), ('1234', 'PAX7_FOXO1', '', 'PAX7', 'FOXO1', '24730567', '31', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'On FISH testing, none of the 10 tumours exhibited RMS1 (PAX3-FOXO1) or RMS 2 (PAX7-FOXO1) fusion. '), ('1235', 'BCR_ABL1', '', 'BCR', 'ABL1', '11106816', '31', 'lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Variant intra philadelphia translocation with rearrangement of BCR-ABL and ABL-BCR within the same chromosome in a patient with cALL.. '), ('1236', 'ETV6_CBFA2', 't(12;21)(p13;q22) / t(12;21)  / t(12;21) / ', 'ETV6', 'CBFA2', '11129441', '31', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'ETV6/CBFA2 fusions in childhood B-cell precursor acute lymphoblastic leukemia with myeloid markers..     ///    Fourteen of the 18 cases (78%) were positive for fusion ETV6/CBFA2. '), ('1237', 'TEL_AML1', '', 'TEL', 'AML1', '14752791', '31', '', 'FISH ', '', '', '', '', '', '', '', 'We performed fluorescent in situ hybridization (FISH) of TEL-AML1 fusion of the marrow samples obtained at diagnosis.     ///    TEL-AML1 fusion was more frequent in the very-low-risk (35%) than in the non-low-risk group (17%) (P=0.03).     ///    Our data support the reported association of TEL-AML1 fusion with a favorable outcome although the risk group had a greater impact.     ///    \"Favorable outcome in 20-year follow-up of children with very-low-risk ALL and minimal standard therapy, with special reference to TEL-AML1 fusion.. \"    ///    \"We studied the prognostic value of TEL-AML1 fusion and a risk factor composed of age, white blood cell count (WBC), lymphomatous features, and hemoglobin level (Hb). \"'), ('1238', 'SRC_SMC', '', 'SRC', 'SMC', '10710223', '31', '', 'FISH ', 'Kinase', '', '', '', '', '', '', ' We report on the use of fluorescence in situ hybridization (FISH) with specific chromosome 8 arm painting to characterize further small supernumerary chromosome 8-derived markers/rings (SMC/SRC) identified in three patients.     ///    \"The identification of the SMC/SRC was first characterized by FISH specific alpha-repeat centromeric probes, second by FISH whole chromosome painting (WCP), and finally by FISH chromosome arm painting (CAP). \"    ///    \"The latter showed involvement of only the short arm of chromosome 8 in all three SMC/SRC cases, suggesting a U-type exchange mechanism.. \"'), ('1239', 'BCR_ABL1', '', 'BCR', 'ABL1', '23098889', '31', 'precursor B cell leukemia', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We review the literature where only 2 similar cases with normal karyotype Pre-B ALL and associated FISH BCR/ABL1 numerical abnormalities were found. '), ('1240', 'KRAS_EGFR', '', 'KRAS', 'EGFR', '25122437', '31', 'non small cell lung cancer;lung cancer\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', '', '', 'EGFR IHC, EGFR FISH, and EGFR/KRAS mutation status were not predictive of outcome. '), ('1241', 'MYH11_CBFB', '', 'MYH11', 'CBFB', '25972330', '31', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'FISH lent prognostic information in one (0.5%) of 220 cases with normal karyotype/abnormal FISH: CBFB-MYH11 fusion, indicating favorable prognosis. '), ('1242', 'P16_BAP1', '', 'P16', 'BAP1', '25634745', '31', 'mesothelioma', 'FISH ', '', '', 'Tumor_suppressor', '', '', '', '', 'However, combined BAP1/p16 FISH testing is not highly sensitive, and negative results do not rule out a mesothelioma. '), ('1243', 'TMPRSS2_ETV4', '', 'TMPRSS2', 'ETV4', '24815454', '31', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', '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. \"    ///    Neither TMPRSS2:ETV1 nor TMPRSS2:ETV4 fusion was found in any case.     ///    They also lack TMPRSS2:ETV1 and TMPRSS2:ETV4 fusion. '), ('1244', 'VCFS_DGS', '', 'VCFS', 'DGS', '14681306', '31', 'velocardiofacial syndrome\r\r', 'FISH', '', '', '', '', '', '', '', 'Unlike Williams syndrome, we found no chromosomal inversions flanked by LCRs in 22 sets of parents of 22q11 deleted patients, or in eight non-deleted patients with a DGS/VCFS phenotype using FISH. '), ('1245', 'MUC2_DBA', '', 'MUC2', 'DBA', '22637697', '31', '', 'FISH ', '', '', '', '', '', '', '', 'In rats, PAS/AB and MUC2/DBA staining revealed mucus layer detachment at ischaemia which was accompanied by bacterial penetration (in EM and FISH). '), ('1246', 'PDGFR_FIP1L1', '', 'PDGFR', 'FIP1L1', '22806436', '31', 'leukemia;hypereosinophilic syndrome\r\r', 'FISH ', 'Kinase', '', '', '', '', '', '', 'In addition, we performed conventional cytogenetics and fluorescent in situ hybridization (FISH) with three BACs covering the FIP1-like-1 (FIP1L1)/platelet-derived growth factor receptor-? gene (PDGFRA) fusion. '), ('1247', 'KOX32_KOX1', '', 'KOX32', 'KOX1', '12697996', '31', '', 'FISH', '', '', '', '', '', '', '', ' The chromosome locations of 368 human Kruppel-type zinc finger (ZNF) PAC clones were physically mapped by FISH to human chromosomes in support of recent efforts of assigning KOX cDNAs (KOX1-KOX32) to zinc finger gene clusters. '), ('1248', 'GLI_CHOP', 't(10;15) / p11.23;q11.2 / ', 'GLI', 'CHOP', '11106817', '31', 'glioblastoma multiforme\r\r', 'FISH ', '', '', '', '', '', '', '', 'Amplification of the CDK4, MDM2, and GLI/CHOP genes was noted in two tumors, and amplification of the PDGFR gene was detected in one tumor. '), ('1249', 'VCFS_ARSA', '', 'VCFS', 'ARSA', '18664089', '31', '', 'FISH ', '', '', '', '', '', '', '', 'By fluorescent in situ hybridization (FISH) technique, LSI DiGeorge/VCFS/ ARSA locus-specific probes are used to detect deleted sequences. '), ('1250', 'MAFB_MAF', 't(4;14)(p16;q32) / t(14;16)(q32;q23) / t(4;14)  / ', 'MAFB', 'MAF', '17171682', '31', 'multiple myeloma\r\r', 'FISH', '', '', '', '', 'Transcription_Factor', '', '', 'The signature related to MAF/MAFB expression included the known MAF target genes CCND2 and ITGB7, as well as genes controlling cell shape and cell adhesion. '), ('1251', 'HER2_COX2', '', 'HER2', 'COX2', '17309668', '31', 'ovarian cancer\r\r', 'FISH ', '', '', '', '', '', '', '', 'Immunostaining was performed for COX2/HER2 together with FISH analysis for HER2 gene amplification in 160 patients with EOC, FIGO stages IIB-IV. '), ('1252', 'ETO_AML1', '', 'ETO', 'AML1', '21764696', '31', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'With multiprobe FISH panel, 22 of the 40 AML cases were found to carry 7 types of cytogenetic abnormalities, namely AML1/ETO transfusion gene, PML-RAR? transfusion gene, MLL breakapart, P53 deletion, Del(5q), -7/Del(7q) and trisomy 8.     ///    \"The multiprobe AML/MDS panel comprising 8 different FISH probes for AML1/ETO transfusion gene, PML-RAR? transfusion gene, CBF?/MYH11 transfusion gene, MLL breakapart, P53 deletion, Del(5q), -7/Del(7q), and Del(20q) was tested in 40 cases of AML, and the results were compared with those by conventional cytogenetic G-banding (CCG) test. \"'), ('1253', 'PRKAR1A_GH1', '', 'PRKAR1A', 'GH1', '9858813', '31', '', 'FISH ', 'Kinase', '', '', '', '', '', '', 'We then developed large-insert YAC, BAC, PAC, or P1 clones to the following 24 known genes, and determined refined map locations along the same FLpter scale: pter-TP53-TOP3-cen-TNFAIP1-ERBB2-TOP2A- BRCA1-TCF11-NME1-HLF-ZNF147/CL N80-BCL5/MPO/SFRS1-TBX2-PECAM1-DDX5/ PRKCA-ICAM2-GH1/PRKAR1A-GRB2-CDK3 /FKHL13-qter. '), ('1254', 'HER2_EGFR', '', 'HER2', 'EGFR', '17317677', '31', 'non small cell lung cancer;lung cancer\r\r', 'FISH', 'Kinase', '', '', '', '', '', '', 'EGFR/HER2 gene copy number by FISH, EGFR protein and pAKT expression by immunohistochemistry (IHC) and EGFR and KRAS mutations were tested in 204 gefitinib-treated NSCLC patients. '), ('1255', 'VCFS_DGS', '', 'VCFS', 'DGS', '18324686', '31', '22q11.2 deletion syndrome\r\r', 'FISH ', '', '', '', '', '', '', '', 'Four boys and three girls were identified with sclerocornea, systemic DGS/VCFS findings, and fluorescence in situ hybridization (FISH)-confirmed microdeletion at chromosome 22q11.2. '), ('1256', 'IGF1R_EGFR', '', 'IGF1R', 'EGFR', '23314677', '31', 'non small cell lung cancer', 'FISH ', 'Kinase', '', '', '', '', '', '', 'Tumors with concomitant IGF1R/EGFR FISH+ were observed in 34 cases (30.1%).     ///    \"Patients with concomitant IGF1R/EGFR FISH+/IHC+ had a worse DFS and overall survival (p = 0.005 and p = 0.01, respectively). \"    ///    \"The multivariate model confirmed that IGF1R/EGFR FISH+/IHC+ (hazard ratio (HR), 4.08. \"    ///    \"IGF1R/EGFR FISH+ and IGF1R/EGFR IHC+ were significantly associated (?(2) = 4.02, p = 0.04). \"    ///    \"Patients with IGF1R/EGFR FISH+ and IGF1R/EGFR IHC+ were associated with shorter disease-free survival (DFS) (p = 0.05 and p = 0.05, respectively). \"    ///    IGF1R/EGFR FISH+/IHC+ is an independent negative prognostic factor for DFS in early NSCLC.     ///    IGF1R/EGFR FISH+ correlates with IGF1R/EGFR IHC+.     ///    Tumors with concomitant IGF1R/EGFR IHC+ were detected in 31 (24.8%) patients. '), ('1257', 'NEU_ERBB2', '', 'NEU', 'ERBB2', '15494857', '31', 'breast cancer;breast carcinoma\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'In this study, a series of 87 breast carcinomas were chosen for evaluation of c-erbB-2/neu gene amplification detected by both LightCycler technology and FISH.     ///     Evaluation of gene amplification and protein expression of the c-erbB-2/neu in breast carcinomas has been an important task in breast cancer management. '), ('1258', 'MDM2_CDK4', '', 'MDM2', 'CDK4', '25679065', '31', 'liposarcoma;sarcoma\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Four cases of atypical lipomatous tumor/well-differentiated liposarcoma (4/26, 15%) with a low MDM2 and CDK4 amplification level (MDM2-CDK4/CEP12 ratio ranging between 2 and 2.5) detected by FISH showed no amplification by MLPA, although gain of MDM2 and CDK4 (ratios ranging between 1.6 and 1.9) was seen with MLPA.     ///    \"Detection of MDM2/CDK4 amplification in lipomatous soft tissue tumors from formalin-fixed, paraffin-embedded tissue: comparison of multiplex ligation-dependent probe amplification (MLPA) and fluorescence in situ hybridization (FISH).. \"    ///    \"In conclusion, MLPA proves to be an appropriate and straightforward technique for screening MDM2/CDK4 amplification in lipomatous tumors, especially when a correct cut-off value and reference samples are chosen, and could be considered a good alternative to FISH to determine MDM2 and CDK4 amplification in liposarcomas. \"    ///    \"In case of high-level amplification (MDM2-CDK4/CEP12 ratio >5), concordance was 100%. \"'), ('1259', 'CD34_CD31', '', 'CD34', 'CD31', '21933581', '31', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', '', '', 'In this study, we isolated CML patient-derived Flk1(+)CD31(-)CD34(-) mesenchymal stem cells (MSCs) and detected their biological characteristics and immunological regulation using fluorescence in situ hybridization (FISH) analysis, fluorescence activated cell sorting (FACS), enzyme-linked immunoadsorbent assay, mixed lymphocyte reaction assays.     ///    The capacity of patient Flk1(+)CD31(-)CD34(-) MSCs to inhibit T lymphocyte activation and proliferation was impaired in vitro.     ///    \"CML patient-derived Flk1(+)CD31(-)CD34(-) MSCs had normal morphology, phenotype and karyotype while appeared impaired in immuno-modulatory function. \"'), ('1260', 'RREB1_MYB', '', 'RREB1', 'MYB', '20081813', '31', 'melanoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'The FISH technique with its present composition of locus-specific probes for RREB1/MYB and CCND1 did not achieve a clinically useful sensitivity and specificity. '), ('1261', 'PDGFR_FIP1L1', '', 'PDGFR', 'FIP1L1', '25012943', '31', 'non Hodgkin lymphoma;lymphoma\r\r', 'FISH ', 'Kinase', '', '', '', '', '', '', 'PDGFR-? expression by immunohistochemistry and fluorescence in situ hybridization (FISH) to assess for FIP1L1-PDGFR-? fusion and/or PDGFR-? amplification were not required for study entry. '), ('1262', 'EEF1AL2_EEF1AL13', '', 'EEF1AL2', 'EEF1AL13', '8812466', '31', '', 'FISH;PCR', '', '', '', '', '', '', '', 'In addition, the 11 strongest cross-hybridizing loci (EEF1AL2-EEF1AL13) were mapped by FISH to 12p12, 9q34, 7p15-p21, 19q13, 3q26-q27, 7q33-q35, 1p13-p22, 2q12-q14, 5p12-q11, 1q31-q32, and Xq21.. '), ('1263', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '26625756', '31', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Comparisons between ETV6-RUNX1 positive and negative groups were accomplished using chi-square test or Fisher\'s exact test.     ///    \"Clinical parameters and ETV6-RUNX1 status (using FISH technique) of pALL patients attending the Pediatric Oncology Clinic, King Abdulaziz Medical City, Riyadh from 2006 to 2011 were studied. \"    ///    Low Frequency of ETV6-RUNX1 (t 12.     ///    None of the ETV6-RUNX11 patients had ?? 5% blasts (no remission) at day 14 as compared with 9% in the ETV6-RUNX1 negative group (Figure 1).     ///    Different geographical locations have been reported to have different frequencies of ETV6-RUNX1 ranging from 10% in Southeast Asia to 30% in Australia.     ///    All ETV6-RUNX1 patients (100%) were of B-cell lineage and 80% (4/5) were in the 3-7 year age group.     ///    \"Frequency of ETV6-RUNX1 positive patients (less than 10%) in our pALL patients is much lower than reported for most European countries, North America, Australia and Japan while it is in accordance with ETV6-RUNX1 frequencies from Egypt (11.6%), Pakistan (10%), Spain (2%) and India (5-7%). \"    ///    \"Therefore, the objective of this study was to establish the ETV6-RUNX1 status of Saudi Arabian pALL patients and its association with clinical parameters and early remission. \"    ///    \"This shows ethnic differences in genetics of pALL as well as higher frequencies of ETV6-RUNX1 positive pALL mostly in more industrialized countries, probably due to some industrial pollutants or westernized lifestyle.. \"    ///    Only 5 (9.3%) patients were ETV6-RUNX1 positive while 49(80.7%) were ETV6-RUNX1 negative.     ///    ETV6-RUNX1 positive pALL patients have good prognosis as compared to ETV6-RUNX1 negative counterparts. '), ('1264', 'P53_ATM', '', 'P53', 'ATM', '20362231', '31', 'chronic lymphocytic leukemia;leukemia\r\r', 'FISH ', 'Kinase', '', 'Tumor_suppressor', '', '', '', '', 'CC abnormality rates were also compared to fluorescence in situ hybridization (FISH) results using probes for CLL (LSI D13S319/13q34/CEP 12: LSI ATM/p53). '), ('1265', 'STSS_STRS', '', 'STSS', 'STRS', '17375527', '31', 'hypospdias\r\r', 'FISH', '', '', '', '', '', '', '', 'The karyotypes, as assessed by banding, FISH, and STRs/STSs analyses, were 46,X,r(Y).ish r(Y)(p11.3q11.222)(SRY+,DYZ3+) and 46,X,+r(Y)/45,X.ish r(Y)(p 11.2q11.2)(Xp/Yp-,SRY+,DYZ3+) respectively. '), ('1266', 'P22_P21', '', 'P22', 'P21', '10095107', '31', '', 'FISH', '', '', '', '', '', '', '', 'Fluorescence in-situ hybridization (FISH) localized testis PFK-2/FBPase-2 gene (PFKFB4) in human chromosome 3 at bands p21-p22. '), ('1267', 'PGD_IVF', 't(3;11) / ', 'PGD', 'IVF', '10694265', '31', '', 'FISH', '', '', '', '', '', '', '', 'In the second case, the female carrier and her husband underwent two IVF/PGD treatment cycles. '), ('1268', 'MLLT10_MLL', '', 'MLLT10', 'MLL', '15262427', '31', 'leukemia\r\r', 'FISH ', '', '', '', '', '', 'KB', '', 'We present two new pediatric cases (French-American-British type M5) with MLL-MLLT10 fusion, which we studied with fluorescence in situ hybridization.     ///    MLL-MLLT10 fusion in acute monoblastic leukemia: variant complex rearrangements and 11q proximal breakpoint heterogeneity..     ///     Cytogenetic studies of acute monoblastic leukemia cases presenting MLL-MLLT10 (alias MLL-AF10) fusion show a broad heterogeneity of chromosomal breakpoints. '), ('1269', 'MYC_FLT4', '', 'MYC', 'FLT4', '25864386', '31', 'breast cancer;sarcoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'We evaluated the MYC/FLT4 status in AVL and AS by immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH), determined its utility in differentiating these 2 entities in small biopsies, and ascertained the value of FLT4 as a potential marker for targeted therapy. '), ('1270', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '26781410', '31', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'The clinical data of 95 children with ETV6/RUNX1-positive ALL who were treated from January 2006 to November 2012 were analyzed retrospectively, including clinical features, results of karyotype analysis, and results of FISH.     ///    \" To investigate the application of multiplex ligation-dependent probe amplification (MLPA) in the detection of copy number variations (CNVs) in pediatric ETV6/RUNX1-positive acute lymphoblastic leukemia (ALL), to compare this method with conventional karyotype analysis and fluorescence in situ hybridization (FISH), and to evaluate the value of MLPA. \"    ///    [Detection of copy number variations in pediatric ETV6/RUNX1-positive acute lymphoblastic leukemia with multiplex ligation-dependent probe amplification]..     ///    MLPA is an efficient and convenient method to detect CNVs in children with ETV6/RUNX1-positive ALL.. '), ('1271', 'KIAA1549_BRAF', '', 'KIAA1549', 'BRAF', '26597605', '31', 'infratentorial tumor', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Both MLPA and FISH analysis contribute to diagnostic confirmation by KIAA1549: BRAF fusion detection. '), ('1272', 'IGH_CCND1', '', 'IGH', 'CCND1', '23470832', '31', 'gastrointestinal disease;pneumonia', 'FISH', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'A bone marrow examination showed 73.7% of myeloma cells with lymphoplasmacytic morphology, the strong expressions of CD20 and CD23 by flow cytometry, and the chromosomal aberration of CCND1/IGH by FISH analysis.     ///    [Loss of CD23 expression after bortezomib plus dexamethasone therapy in CCND1/IGH-positive multiple myeloma].. '), ('1273', 'TOP2A_BRCA1', '', 'TOP2A', 'BRCA1', '9858813', '31', '', 'FISH ', '', '', 'Tumor_suppressor', '', '', '', '', 'We then developed large-insert YAC, BAC, PAC, or P1 clones to the following 24 known genes, and determined refined map locations along the same FLpter scale: pter-TP53-TOP3-cen-TNFAIP1-ERBB2-TOP2A- BRCA1-TCF11-NME1-HLF-ZNF147/CL N80-BCL5/MPO/SFRS1-TBX2-PECAM1-DDX5/ PRKCA-ICAM2-GH1/PRKAR1A-GRB2-CDK3 /FKHL13-qter. '), ('1274', 'PRKCA_DDX5', '', 'PRKCA', 'DDX5', '9858813', '31', '', 'FISH ', 'Kinase', '', '', '', '', '', '', 'We then developed large-insert YAC, BAC, PAC, or P1 clones to the following 24 known genes, and determined refined map locations along the same FLpter scale: pter-TP53-TOP3-cen-TNFAIP1-ERBB2-TOP2A- BRCA1-TCF11-NME1-HLF-ZNF147/CL N80-BCL5/MPO/SFRS1-TBX2-PECAM1-DDX5/ PRKCA-ICAM2-GH1/PRKAR1A-GRB2-CDK3 /FKHL13-qter. '), ('1275', 'MYC_IGH', '', 'MYC', 'IGH', '26763367', '31', 'B cell lymphoma', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'We suggest that in aggressive nodular marginal zone lymphomas (clinical picture or high proliferation rate of lymphoma cells), fluorescence in situ hybridization analysis for MYC rearrangement, with break-apart probe, and for MYC/IGH translocation, in addition to chromosome analysis, should be performed. '), ('1276', 'P53_KRAS', '', 'P53', 'KRAS', '21705950', '31', '', 'FISH ', '', 'Oncogene', '', '', '', '', '', 'We performed FISH for p16, p53, LPL, c-Myc, MALT1, topoisomerase 2/human epidermal growth factor receptor 2, and EGFR, as well as K-ras/p53 mutational analyses.     ///    \"Here, we evaluate whether combining routine cytology with fluorescence in situ hybridization (FISH) and K-ras/p53 analyses improves diagnostic yield of pancreatic EUS-FNA. \"'), ('1277', 'HER4_HER1', '', 'HER4', 'HER1', '18182100', '31', 'breast cancer\r\r', 'FISH ', '', '', '', '', '', '', '', 'We investigated HER1-HER4, at both the DNA and the protein level, using fluorescence in situ hybridisation (FISH) probes targeted to all four receptor loci and also immunohistochemistry in tissue microarrays derived from 278 breast cancer patients. '), ('1278', 'RARA_PML', '', 'RARA', 'PML', '22402611', '31', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Acute promyelocytic leukemia with trisomy 8 showing normal PML-RARA FISH signal patterns: diagnostic application of long-distance polymerase chain reaction in molecularly discrepant leukemia cases.. '), ('1279', 'BCR_ABL1', '', 'BCR', 'ABL1', '22090723', '31', 'acute myeloid leukemia;chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Chromosomal analysis from GTG-banded metaphases revealed Ph positivity, and fluorescence in situ hybridization (FISH) with BCR/ABL dual color, dual fusion probe showed single fusion on the der(22) chromosome and ABL/BCR fusion was deleted on the der(9) chromosome.     ///    Deletion of ABL/BCR on der(9) associated with severe basophilia..     ///    The deletion (ABL/BCR) on der(9) may be associated with basophilia which may be also indicative of the transformation of CML to acute myeloid leukemia.. '), ('1280', 'IGH_CCND1', 't(11;14)  / t(11;14)(q13;q32) / ', 'IGH', 'CCND1', '26029939', '31', 'mantle cell lymphoma;mantle cell lymphoma;lymphoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'FISH on previously G-banded metaphases showed a cryptic CCND1-IGH@ fusion signal on a derivative chromosome 10, and another fusion signal on one of the abnormal copies of chromosome 11. '), ('1281', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '15284118', '31', 'hypereosinophilic syndrome;systemic mastocytosis\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'A fluorescence in situ hybridization (FISH)-based strategy was used to detect FIP1L1-PDGFRA in bone marrow cells.     ///    \" A novel oncogenic mutation (FIP1L1-PDGFRA), which results in a constitutively activated platelet-derived growth factor receptor-alpha (PDGFRA), has been invariably associated with a primary eosinophilic disorder. \"    ///    Treatment with low-dose imatinib (100 mg/d) produced complete and durable responses in all 8 FIP1L1-PDGFRA(+) cases treated.     ///    \"None of 8 patients with reactive eosinophilia displayed the abnormality, whereas the incidence of FIP1L1-PDGFRA in the remaining 81 patients with primary eosinophilia was 14% (11 patients). \"    ///    FIP1L1-PDGFRA is a relatively infrequent but treatment-relevant mutation in primary eosinophilia that is indicative of an underlying systemic mastocytosis..     ///    The bone marrow mast cell infiltration pattern in FIP1L1-PDGFRA(+) SMCD-eos was distinctly diffuse with loose tumoral aggregates.     ///    FIP1L1-PDGFRA fusion: prevalence and clinicopathologic correlates in 89 consecutive patients with moderate to severe eosinophilia.. '), ('1282', 'HER2_EGFR', '', 'HER2', 'EGFR', '17406029', '31', 'non small cell lung cancer;lung cancer\r\r', 'FISH;PCR', 'Kinase', '', '', '', '', '', '', 'When only endoscopic biopsies or cytologic specimens are available, we propose using FISH/CISH for EGFR and HER2 as the test of choice for selecting patients for treatment with gefitinib and to consider as negative predictive factor the absence of EGFR/HER2 gene gain..     ///    \"In addition, seven of seven cases with balanced EGFR/HER2 polysomy and two of three cases with balanced EGFR/HER2 trisomy responded to gefitinib (75% of responders). \"'), ('1283', 'CD44_CD24', '', 'CD44', 'CD24', '24999991', '31', 'breast cancer', 'FISH', '', '', '', '', '', '', '', 'Blood samples were completely separated into plasma, CTCs and PBMCs components and each fraction were characterized with immunophenotyping (Pan-cytokeratin/CD45, CD44/CD24, EpCAM), fluorescence in-situ hybridization (FISH) (EML4-ALK) or targeted somatic mutation analysis. '), ('1284', 'BCR_ABL1', '', 'BCR', 'ABL1', '26829724', '31', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'With the eight-probe FISH (using probes for MYC, P16, E2A, CHIC2/D10Z1/D17Z1, TEL/AMLl, MLL, BCR/ABL1, and IGH) and R-banding karyotype analysis, 237 cases of ALL were analyzed.     ///    \"Cytogenetic changes were detected in 135 (56.96%) of all cases, which have involved MYC, P16, E2A, CHIC2/D10Z1/D17Z1, TEL/AMLl, MLL, BCR/ABL1, and IGH polyploidies. \"'), ('1285', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '17542982', '31', '', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Detection of FIP1L1-PDGFRA fusion by FISH.. '), ('1286', 'PAX7_FOXO1', '', 'PAX7', 'FOXO1', '25912319', '30', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH;PCR', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'All solid variant ARMS harbored FOXO1 gene rearrangements and PAX3-FOXO1 ARMS were detected to the exclusion of PAX7-FOXO1.    ///    All solid variant ARMS harbored FOXO1 gene rearrangements and PAX3-FOXO1 ARMS were detected to the exclusion of PAX7-FOXO1. '), ('1287', 'EPC1_PHF1', 't(10;17)(q23;p13) / / ', 'EPC1', 'PHF1', '23159154', '30', 'adenosarcoma;leiomyosarcoma', 'FISH ', '', '', '', '', '', 'KB', '', 'We studied a series of 6 YWHAE-FAM22 endometrial stromal sarcomas, 7 JAZF-SUZ12 endometrial stromal sarcomas, 3 JAZF1-PHF1/EPC1-PHF1 endometrial stromal sarcomas, 6 undifferentiated endometrial sarcomas, 4 uterine leiomyosarcomas, and 4 uterine adenosarcomas.    ///    \"We studied a series of 6 YWHAE-FAM22 endometrial stromal sarcomas, 7 JAZF-SUZ12 endometrial stromal sarcomas, 3 JAZF1-PHF1/EPC1-PHF1 endometrial stromal sarcomas, 6 undifferentiated endometrial sarcomas, 4 uterine leiomyosarcomas, and 4 uterine adenosarcomas. \"'), ('1288', 'PHF1_EPC1', '', 'PHF1', 'EPC1', '21836477', '30', 'endometrial stromal sarcoma;leiomyosarcoma', 'FISH ', '', '', '', '', '', '', '', 'Our data confirm that gene rearrangements are present in more than 50% of uterine ESTs, with JAZF1-SUZ12 fusion being the most common, followed by rare EPC1-PHF1 and JAZF1-PHF1 fusions.     ///    \"JAZF1-SUZ12 fusion, EPC1-PHF1 fusion, and PHF1 rearrangement were found in 3 extrauterine ESSs, whereas no rearrangements were observed in UESs or in any other non-EST studied. \"    ///    \"Rearrangements were detected in 42 of 78 (54%) uterine ESTs, with JAZF1-SUZ12 fusion found in 50% of ESNs and in 33% of ESSs and JAZF1-PHF1 and EPC1-PHF1 fusions found in 1% and <1% of ESSs, respectively. \"'), ('1289', 'SET_NUP214', 'del(17)(q12) / del(5)(q35) / del(7)(q34) / del(9)(q34) / del(12)(p13) / del(14)(q11) / ', 'SET', 'NUP214', '20065082', '30', 'leukemia\r\r', 'FISH ', '', '', '', '', '', 'KB', '', 'The estimated incidence of TAF_I-NUP214, a new recurrent fusion in adult T-cell acute lymphoblastic leukemias, was 4.6% (7/152).. '), ('1290', 'PHF1_JAZF1', 't(10;17)(q23;p13) / ', 'PHF1', 'JAZF1', '23159154', '30', 'adenosarcoma;leiomyosarcoma', 'FISH ', '', '', '', '', '', '', '', 'We studied a series of 6 YWHAE-FAM22 endometrial stromal sarcomas, 7 JAZF-SUZ12 endometrial stromal sarcomas, 3 JAZF1-PHF1/EPC1-PHF1 endometrial stromal sarcomas, 6 undifferentiated endometrial sarcomas, 4 uterine leiomyosarcomas, and 4 uterine adenosarcomas. '), ('1291', 'P16_P15', 't(9;22)  / ', 'P16', 'P15', '11801308', '30', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Other molecular events involving chromosome 9 were a monoallelic loss of JAK2 in both subclones and an additional loss of P15/P16 in the subclone with the acrocentric marker bearing the extra Ph chromosome.. '), ('1292', 'MUM1_IRF4', '', 'MUM1', 'IRF4', '19786664', '30', 'B cell lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Paraffin-embedded tumor samples of 119 patients treated with R-CHOP were analyzed by immunohistochemistry for CD10, BCL6, MUM1/IRF4, LMO2, and forkhead box protein P1 (FOXP1) expression and for BCL2, BCL6, and c-MYC breakpoints by fluorescence in situ hybridization (FISH) on tissue microarray.     ///    \"Interestingly, an immunoFISH index, defined by positivity for at least two of three non-GC markers (FOXP1, MUM1/IRF4, BCL6 breakpoint) was significantly associated with a shorter 5-year OS rate (44%. \"'), ('1293', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '17405156', '30', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'AML1/ETO transcript was observed by reverse transcription-polymerase chain reaction. '), ('1294', 'SUZ12_JAZF1', '', 'SUZ12', 'JAZF1', '21836477', '30', 'endometrial stromal sarcoma;leiomyosarcoma', 'FISH ', '', '', '', '', '', 'KB', '', 'Our data confirm that gene rearrangements are present in more than 50% of uterine ESTs, with JAZF1-SUZ12 fusion being the most common, followed by rare EPC1-PHF1 and JAZF1-PHF1 fusions.     ///    \"JAZF1-SUZ12 fusion, EPC1-PHF1 fusion, and PHF1 rearrangement were found in 3 extrauterine ESSs, whereas no rearrangements were observed in UESs or in any other non-EST studied. \"    ///    \"Rearrangements were detected in 42 of 78 (54%) uterine ESTs, with JAZF1-SUZ12 fusion found in 50% of ESNs and in 33% of ESSs and JAZF1-PHF1 and EPC1-PHF1 fusions found in 1% and <1% of ESSs, respectively. \"'), ('1295', 'PHD_LAP', 't(10;11)(p13-14;q14-21) / t(10;11)  / ', 'PHD', 'LAP', '12676784', '30', 'T cell leukemia', 'FISH ', '', '', '', '', '', '', '', 'The latter retain the AF10 extended LAP/PHD domain necessary for homo-oligomerization. '), ('1296', 'PHF1_JAZF1', '', 'PHF1', 'JAZF1', '21836477', '30', 'endometrial stromal sarcoma;leiomyosarcoma', 'FISH ', '', '', '', '', '', '', '', 'Our data confirm that gene rearrangements are present in more than 50% of uterine ESTs, with JAZF1-SUZ12 fusion being the most common, followed by rare EPC1-PHF1 and JAZF1-PHF1 fusions.     ///    \"Rearrangements were detected in 42 of 78 (54%) uterine ESTs, with JAZF1-SUZ12 fusion found in 50% of ESNs and in 33% of ESSs and JAZF1-PHF1 and EPC1-PHF1 fusions found in 1% and <1% of ESSs, respectively. \"'), ('1297', 'SUZ12_JAZF1', 't(10;17)(q23;p13) / ', 'SUZ12', 'JAZF1', '23159154', '30', 'adenosarcoma;leiomyosarcoma', 'FISH ', '', '', '', '', '', 'KB', '', 'In contrast to classic low-grade endometrial stromal sarcoma with JAZF1-SUZ12 fusions, YWHAE-FAM22 endometrial stromal sarcoma displays high-grade histologic features and is associated with more aggressive disease course. '), ('1298', 'JJAZ1_JAZF1', '', 'JJAZ1', 'JAZF1', '17235569', '29', 'endometrial stromal sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Extrauterine endometrial stromal sarcoma with JAZF1/JJAZ1 fusion confirmed by RT-PCR and interphase FISH presenting as an inguinal tumor..     ///    We confirmed JAZF1/JJAZ1 fusion by reverse transcription-polymerase chain reaction and the corresponding chromosomal translocation by interphase fluorescence in situ hybridization on paraffin sections.     ///    \"It is essential that the inguinal region should be recognized as a possible primary site of endometrial stromal sarcoma, and the detection of a JAZF1/JJAZ1 fusion can be useful when the diagnosis is not confirmed by microscopic observation or immunohistochemistry for the tumor arising in extrauterine sites.. \"    ///    \"It is essential that the inguinal region should be recognized as a possible primary site of endometrial stromal sarcoma, and the detection of a JAZF1/JJAZ1 fusion can be useful when the diagnosis is not confirmed by microscopic observation or immunohistochemistry for the tumor arising in extrauterine sites..\"'), ('1299', 'SYT_SSX1', 'p11.2;q11.2 / ', 'SYT', 'SSX1', '12037676', '29', 'testis cancer', 'FISH', '', '', '', '', '', '', '', 'By interphase FISH analyses of 10 cases SYT-SSX2 translocations were found to be the most abundant in all but one of the cases, in which SYT-SSX1 was predominating.     ///    \"Through this translation the SYT gene on chromosome 18 is fused with a testis/cancer antigen gene on the X chromosome, generating either a SYT-SSX1, SYT-SSX2, or less often a SYT-SSX4 fusion gene. \"    ///    In all 12 cases the SYT-SSX1 and SYT-SSX2 fusions resulted in identical SYT-SSX fusion transcripts.     ///    \"It has been anticipated that the individual synovial sarcoma carries only one of these variants, however, in this study we demonstrated that SYT-SSX1 and SYT-SSX2 co-exist in a significant proportion of the cases. \"    ///    \"From 121 SYT-SSX positive primary tumors, co-expression of SYT-SSX1 and SYT-SSX2 was seen in 12 cases (10%), which were characterized in further detail both at the RNA, DNA and chromosomal level. \"    ///    Co-existence of SYT-SSX1 and SYT-SSX2 fusions in synovial sarcomas.. '), ('1300', 'SYT_SSX2', 'p11.2;q11.2 / ', 'SYT', 'SSX2', '12037676', '29', 'testis cancer', 'FISH', '', '', '', '', '', '', '', 'By interphase FISH analyses of 10 cases SYT-SSX2 translocations were found to be the most abundant in all but one of the cases, in which SYT-SSX1 was predominating.     ///    \"Through this translation the SYT gene on chromosome 18 is fused with a testis/cancer antigen gene on the X chromosome, generating either a SYT-SSX1, SYT-SSX2, or less often a SYT-SSX4 fusion gene. \"    ///    In all 12 cases the SYT-SSX1 and SYT-SSX2 fusions resulted in identical SYT-SSX fusion transcripts.     ///    \"From 121 SYT-SSX positive primary tumors, co-expression of SYT-SSX1 and SYT-SSX2 was seen in 12 cases (10%), which were characterized in further detail both at the RNA, DNA and chromosomal level. \"    ///    \"It has been anticipated that the individual synovial sarcoma carries only one of these variants, however, in this study we demonstrated that SYT-SSX1 and SYT-SSX2 co-exist in a significant proportion of the cases. \"    ///    Co-existence of SYT-SSX1 and SYT-SSX2 fusions in synovial sarcomas.. '), ('1301', 'EML4_ALK', '', 'EML4', 'ALK', '23887300', '29', 'adenocarcinoma\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'EGFR alterations and EML4-ALK rearrangement in primary adenocarcinoma of the urinary bladder.    ///    EGFR alterations and EML4-ALK rearrangement in primary adenocarcinoma of the urinary bladder.. '), ('1302', 'TP53BP1_PDGFRB', 't(5;15)(q33;q22) / ', 'TP53BP1', 'PDGFRB', '15492236', '29', 'myeloproliferative disorder;chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR ', 'Kinase', '', '', 'Receptor', 'Transcription_Factor', 'KB', '', 'We conclude that TP53BP1-PDGFRB is a novel imatinib target in atypical chronic myeloid leukemia.. '), ('1303', 'CALM_AF10', 't(10;11)(p12-p13;q14-q21) / t(10;11)(p12-p13;q23) / t(10;11) / ', 'CALM', 'AF10', '10637483', '29', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', 'FISH ', '', '', '', '', '', '', '', 'Our data indicate that the CALM/AF10 fusion product on the der(10) chromosome is critical to leukemogenesis.     ///    We identified four different CALM/AF10 fusion products in five patients and AF10/CALM reciprocal message in one. '), ('1304', 'FLI1_EWSR1', '', 'FLI1', 'EWSR1', '26675070', '29', 'clear cell sarcoma;ewing sarcoma;sarcoma\r\r', 'FISH', '', '', '', '', '', '', 'Seq', 'However, polymerase chain reaction testing for ES-specific rearrangements (EWSR1/FLI1, EWSR1/ERG, EWSR1/ETV1, EWSR1/ETV4, EWS/FEV) failed to confirm the ES origin of the neoplastic tissue. '), ('1305', 'FEV_EWS', '', 'FEV', 'EWS', '26675070', '29', 'clear cell sarcoma;ewing sarcoma;sarcoma\r\r', 'FISH', '', '', '', '', '', '', '', 'However, polymerase chain reaction testing for ES-specific rearrangements (EWSR1/FLI1, EWSR1/ERG, EWSR1/ETV1, EWSR1/ETV4, EWS/FEV) failed to confirm the ES origin of the neoplastic tissue. '), ('1306', 'TEL_AML1', '', 'TEL', 'AML1', '11726315', '29', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Double TEL/AML1 fusion, lack of TEL signal and extra AML1 signals were frequent additional FISH abnormalities.     ///    Fluorescence in situ hybridization study of TEL/AML1 fusion and other abnormalities involving TEL and AML1 genes.     ///    We found a frequency of TEL/AML1 fusion of 17% in our sample.     ///    The frequency of TEL/AML1 fusion is similar to that found in other populations (17%).     ///     The TEL/AML1 fusion is the most common genetic abnormality found in childhood acute lymphoblastic leukemias (ALL). '), ('1307', 'EWSR1_ETV4', '', 'EWSR1', 'ETV4', '26675070', '29', 'clear cell sarcoma;ewing sarcoma;sarcoma\r\r', 'FISH', '', '', '', '', '', 'KB', 'Seq', 'However, polymerase chain reaction testing for ES-specific rearrangements (EWSR1/FLI1, EWSR1/ERG, EWSR1/ETV1, EWSR1/ETV4, EWS/FEV) failed to confirm the ES origin of the neoplastic tissue. '), ('1308', 'PRKD1_ARID1A', '', 'PRKD1', 'ARID1A', '24942367', '29', 'adenocarcinoma\r\r', 'FISH ', 'Kinase', '', 'Tumor_suppressor', '', '', '', '', 'FISH for PRKD1 rearrangements identified 11 additional cases (22%), two more showing ARID1A-PRKD1 fusions.     ///    \"The RNAseq of 2 CAMSGs showed ARID1A-PRKD1 and DDX3X-PRKD1 fusions, respectively, while no fusion candidates were identified in two PLGAs. \"'), ('1309', 'RARA_PML', '', 'RARA', 'PML', '17556074', '29', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The incidence of submicroscopic deletions in patients with chromosomal rearrangements was the highest in the TEL/AML1 rearrangement (65.0%), followed by BCR/ABL (10.9%), MLL (5.6%), AML/ETO (4.0%), and PML/RARA (0.0%). '), ('1310', 'TEL_AML1', '', 'TEL', 'AML1', '17556074', '29', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', 'FISH ', '', '', '', '', '', '', '', 'The incidence of submicroscopic deletions in patients with chromosomal rearrangements was the highest in the TEL/AML1 rearrangement (65.0%), followed by BCR/ABL (10.9%), MLL (5.6%), AML/ETO (4.0%), and PML/RARA (0.0%). '), ('1311', 'EML4_ALK', '', 'EML4', 'ALK', '25721120', '29', 'lung cancer\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The FISH-based method of detecting EML4-ALK rearrangement in lung cancer may miss a significant number of patients who could benefit from targeted ALK therapy.     ///    Food and Drug Administration-approved method for detecting EML4-ALK rearrangement is fluorescence in situ hybridization (FISH).     ///    \"We studied FISH and IHC (D5F3 antibody) systematically for EML4-ALK rearrangement in 51 lung adenocarcinoma patients, followed by NGS in case of discordance. \"    ///    \"Screening for EML4-ALK rearrangement by IHC should be strongly considered, and NGS is recommended in borderline cases. \"    ///    \"Fluorescence in situ hybridization, immunohistochemistry, and next-generation sequencing for detection of EML4-ALK rearrangement in lung cancer.. \"'), ('1312', 'EML4_ALK', '', 'EML4', 'ALK', '24742568', '29', 'adenoid cystic carcinoma', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' To evaluate the sensitivity and specificity of fully automated immunohistochemistry (IHC), with comparison to FISH, in the detection of EML4-ALK rearrangement in lung adenocarcinoma (ADC). '), ('1313', 'NUT_BRD4', '', 'NUT', 'BRD4', '19363441', '29', 'dysgerminoma', 'FISH ', 'Kinase', '', '', '', '', 'KB', '', 'In both instances, these tumors contained cryptic BRD4-NUT rearrangements, as confirmed by FISH using a refined set of probes.     ///    \"Two new cases of NMC containing BRD4-NUT fusions were detected by C52 IHC, but missed by conventional FISH. \"'), ('1314', 'EWSR1_ETV1', '', 'EWSR1', 'ETV1', '26675070', '29', 'clear cell sarcoma;ewing sarcoma;sarcoma\r\r', 'FISH', '', '', '', '', '', 'KB', '', 'However, polymerase chain reaction testing for ES-specific rearrangements (EWSR1/FLI1, EWSR1/ERG, EWSR1/ETV1, EWSR1/ETV4, EWS/FEV) failed to confirm the ES origin of the neoplastic tissue. '), ('1315', 'EWSR1_ERG', '', 'EWSR1', 'ERG', '26675070', '29', 'clear cell sarcoma;ewing sarcoma;sarcoma\r\r', 'FISH', '', '', '', '', '', 'KB', 'Seq', 'However, polymerase chain reaction testing for ES-specific rearrangements (EWSR1/FLI1, EWSR1/ERG, EWSR1/ETV1, EWSR1/ETV4, EWS/FEV) failed to confirm the ES origin of the neoplastic tissue. '), ('1316', 'TEL_AML1', 't(12;21) (p13;q22) / ', 'TEL', 'AML1', '11455977', '28', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Our results imply that each of 1.16 > or = DI and the presence of the TEL-AML1 translocation confers a 50% decrease in lymphoblast MTXPG level.     ///    The association of the TEL-AML1 chromosomal translocation with the accumulation of methotrexate polyglutamates in lymphoblasts and with ploidy in childhood B-progenitor cell acute lymphoblastic leukemia: a Pediatric Oncology Group study..     ///    Hyperdiploidy was rare in lymphoblasts with the TEL-AML1 translocation (P = 0.047).     ///    Levels of lymphoblast MTXPGs were lower in those with than in those without the TEL-AML1 translocation (P = 0.004).     ///    We detected the TEL-AML1 and/or the AML1-TEL transcript in 30 (33%) of 91 patients studied.     ///    \"However, the presence of TEL-AML1 or of hyperdiploidy accounted for only 22% of the variation of this value. \"    ///    Both ploidy (P= 0.0015) and TEL-AML1 status (P= 0.0043) were independently and significantly correlated with the log of the lymphoblast MTXPG level.     ///    \"When planning reduction of therapy for either of the two excellent outcome categories of hyperdiploid or TEL-AML1 BpALL, one should consider the difference between these two subgroups in the ability of lymphoblasts to accumulate MTXPGs.. \"    ///    \"The chimeric TEL-AML1 transcript, which has been associated with this translocation, can be detected in up to 25% of children with BpALL. \"'), ('1317', 'ETO_AML1', 't(8;21)  / t(8;21)(q22;q22) / t(8;17)(q22;p13) / ', 'ETO', 'AML1', '12463597', '28', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Results of fluorescence in situ hybridization using the AML1/ETO probe, and of detection of the AML1/ETO fusion transcript by reverse transcriptase-polymerase chain reaction were consistent with the karyotyping result. '), ('1318', 'PVT1_NSMCE2', '', 'PVT1', 'NSMCE2', '26458445', '28', 'acute myeloid leukemia;myeloid leukemia;leukemia;multiple myeloma\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', 'Seq', 'Chromothripsis is a possible cytogenetic mechanism of generating PVT1-NSMCE2 and CCDC26-NSMCE2.     ///    \"In acute myeloid leukemia, novel fusion RNAs, PVT1-NSMCE2 and CCDC26-NSMCE2, were identified in association with marker chromosomes and double minute chromosomes derived from chromosome 8 showing 8q24 amplicons. \"'), ('1319', 'CST5_CST1', '20p11.2 / ', 'CST5', 'CST1', '7896273', '28', '', 'FISH ', '', '', '', '', '', '', '', 'Five functional genes (CST1-CST5) and two pseudogenes (CSTP1 and CSTP2) have previously been cloned. '), ('1320', 'IGH_BCL2', '', 'IGH', 'BCL2', '18055344', '28', 'follicular lymphoma;lymphoma\r\r', 'FISH;PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'BCL2 /IgH translocation was analyzed in paraffin-embedded tissues from follicular lymphoma patients by using polymerase chain reaction (PCR) analysis of the major breakpoint region (MBR), the intermediate cluster region (ICR), and the minor cluster region. '), ('1321', 'WT1_EWSR1', 't(11;22)(p13;q12) / ', 'WT1', 'EWSR1', '24388397', '28', '', 'FISH ', '', '', '', '', '', 'KB', '', 'Multiple EWSR1-WT1 and WT1-EWSR1 copies in two cases of desmoplastic round cell tumor..     ///    Our study demonstrated that an integrated molecular cytogenetic approach identified EWSR1-WT1 cooperating molecular events and genetic markers for prognosis.     ///    \"Common genomic events (i.e., trisomy 3 and extra EWSR1-WT1 and WT1-EWSR1 copies) probably contributed to disease pathogenesis and/or evolution of DSRCT. \"'), ('1322', 'BCR_ABL1', 't(9;22) / t(11;19) / t(9;22)(q34;q11) / t(11;19)  / t(9;22)  / ', 'BCR', 'ABL1', '26030291', '28', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Clinical course was aggressive, and the patient failed to respond to both imatinib and dasatinib despite the absence of resistance-associated mutations in the BCR/ABL1 gene.     ///    MLL Rearrangment and EVI1 Deletion in BCR/ABL1 Positive Chronic Myeloid Leukemia.. '), ('1323', 'CDKN2B_CDKN2A', '7p15.2 / ', 'CDKN2B', 'CDKN2A', '18332873', '28', 'adenoid cystic carcinoma\r\r', 'FISH ', 'Kinase', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'The minimal common regions of deletions contained the CDKN2A/CDKN2B, TP53, and LIMA1 tumor suppressor genes. '), ('1324', 'ZAP70_CD38', 'del (11q) / del (13q) / ', 'ZAP70', 'CD38', '18689273', '28', 'chronic lymphocytic leukemia;leukemia\r\r', 'FISH ', 'Kinase', '', '', '', '', '', '', 'In patients with discordant ZAP-70/CD38 results, the median treatment-free survival time was 40 months. '), ('1325', 'UBE3A_SNRPN', '18p11.21 / 18p11.2 / ', 'UBE3A', 'SNRPN', '22567345', '28', '', 'FISH', '', '', '', '', '', '', 'Seq', 'FISH studies indicated that one of the SMCs is a dicentric ring 15 with two copies of the 15q11.2q13.3 region including SNRPN/UBE3A and two copies of the 5q35.3 region. '), ('1326', 'FGFR3_CCND1', '6p22.3 / ', 'FGFR3', 'CCND1', '24459064', '28', 'urinary bladder cancer', 'FISH ', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The T24 belongs to the alternative pathway of FGFR3/CCND1 by presenting mutated HRAS and over-represented CCND1. '), ('1327', 'SMS_HER2', '17p11.2 / ', 'SMS', 'HER2', '19670217', '28', 'breast cancer\r\r', 'FISH ', '', '', '', '', '', '', '', 'Among these, one case, showing score 2+ by immunohistochemistry and 8.5 HER2 mean copy number, was classified as not amplified by HER2/CEP17 ratio and as amplified by HER2/SMS ratio. '), ('1328', 'NEU_HER2', '17p11.1 / ', 'NEU', 'HER2', '21188112', '28', 'breast cancer\r\r', 'FISH ', '', '', '', '', '', '', '', ' Human epidermal growth factor receptor 2 (HER2)/neu, topoisomerase II alpha (TOP2A), and polysomy 17 may predict tumor responsiveness to doxorubicin (DOX) therapy. '), ('1329', 'PTD_MLL', 't(8;16)(p11;p13) / inv(3)(q21q26) / t(6;9)(p23;q34) / ', 'PTD', 'MLL', '19363529', '28', 'leukemia\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'In normal karyotype, PCR analyses reveal prognostically relevant mutations in >85% of cases, and a molecular data set composed of the FLT3-ITD, MLL-PTD, NPM1 and CEBPA mutations was found able to guide the selection of patients for allo-SCT. '), ('1330', 'RB1_CLLS2', '17p13.1 / ', 'RB1', 'CLLS2', '23114126', '28', 'chronic lymphocytic leukemia;leukemia\r\r', 'FISH ', '', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Out of 11 cases, 7 were D13S25/RB1 deletion, 4 were of P53 deletion, and 3 cases had 3 kinds of abnormalities. '), ('1331', 'ST5_CEGF1', '11p15.3 / ', 'ST5', 'CEGF1', '11528126', '28', 'Beckwith Wiedemann syndrome', 'FISH', '', '', '', '', '', '', '', 'To analyse the chromosome area in detail the synteny of the orthologous region on distal mouse chromosome 7 was determined and a corresponding mouse clone contig established, proving the conserved order of the genes and markers in both species: \"cen-WEE1-D11S2043-ZNF143-RANBP7-CEGF1- ST5-D11S932-LMO1-D11S572-TUB-tel\", with inverted order of the murine genes with respect to the telomere/centromere orientation. '), ('1332', 'NSMCE2_CCDC26', '', 'NSMCE2', 'CCDC26', '26458445', '28', 'acute myeloid leukemia;myeloid leukemia;leukemia;multiple myeloma\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', '', 'Chromothripsis is a possible cytogenetic mechanism of generating PVT1-NSMCE2 and CCDC26-NSMCE2.     ///    \"In acute myeloid leukemia, novel fusion RNAs, PVT1-NSMCE2 and CCDC26-NSMCE2, were identified in association with marker chromosomes and double minute chromosomes derived from chromosome 8 showing 8q24 amplicons. \"'), ('1333', 'ETO_AML1', 't(16;21)(q24;q22) / ', 'ETO', 'AML1', '19963144', '28', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Interphase fluorescence in situ hybridization analysis with a dual-color, dual-fusion translocation LSI AML1/ETO probe set for RUNX1 and RUNX1T1 produced three signals for each probe in 90% of interphases, but no fusion signals. '), ('1334', 'SLC44A1_PRKCA', '', 'SLC44A1', 'PRKCA', '26260115', '28', '', 'FISH ', 'Kinase', '', '', '', '', '', '', 'The SLC44A1-PRKCA fusion was recently detected in three cases of PGNT.     ///    This suggests that the SLC44A1-PRKCA fusion is a characteristic alteration in PGNT but not RGNT.     ///    SLC44A1-PRKCA fusion in papillary and rosette-forming glioneuronal tumors..     ///    We invesitgated for the SLC44A1-PRKCA fusion protein in the three PGNT patients and a further two with RGNT using fluorescence in situ hybridization. '), ('1335', 'KHK_GCKR', '2p23.2 / 2p22.3 / ', 'KHK', 'GCKR', '8662230', '28', 'diabetes', 'FISH ', 'Kinase', '', '', '', '', '', '', 'A new microsatellite polymorphism was used to place the GCKR-KHK locus between D2S305 and D2S165 on the genetic map. '), ('1336', 'RARA_PML', '9p21.3 / 17p13.1 / 12p13.2 / 5p15.33 / ', 'RARA', 'PML', '21544632', '28', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', ' Gain or loss of genes plays important roles in leukemogenesis of APL via cooperation with PML-RARA. '), ('1337', 'PBX1_EWSR1', '', 'PBX1', 'EWSR1', '20815032', '27', 'myoepithelial tumor\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', '', '', 'An EWSR1-PBX1 fusion was seen in five cases, whereas EWSR1-ZNF444 and FUS gene rearrangement was noted in one pulmonary tumor each. '), ('1338', 'EWSR1_ATF1', '', 'EWSR1', 'ATF1', '23715163', '27', 'odontogenic tumor', 'FISH ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'In this study, we demonstrate for the first time the EWSR1-ATF1 translocation in a CCOC and demonstrate a concrete link between CCCs and at least a subset of CCOCs..    ///    \"In this study, we demonstrate for the first time the EWSR1-ATF1 translocation in a CCOC and demonstrate a concrete link between CCCs and at least a subset of CCOCs.. \"'), ('1339', 'EML4_ALK', '', 'EML4', 'ALK', '24942894', '27', 'non small cell lung cancer;lung cancer\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Variations in molecular profile in NSCLC can be analyzed using cytological samples: development of EGFR resistance mutations and coexistence of ALK-EML4 translocation in an EGFR-sensitive patient..     ///    \"At this point, fluorescence in situ hybridization also detected ALK-EML4 translocation. \"    ///    \"To our knowledge, this is the first case reported with these characteristics, and the 11th case described with coexistence of EGFR mutations and ALK-EML4 rearrangements. \"    ///    We report a case of a non-small cell lung carcinoma patient with coexistence of EGFR mutations and ALK-EML4 rearrangements that responded to EGFR inhibitors and in which the development of a new resistance mutation in exon 20 of EGFR-determined treatment resistance. '), ('1340', 'EML4_ALK', '', 'EML4', 'ALK', '22706607', '27', 'non small cell lung cancer;adenocarcinoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Here, we report a novel EML4-ALK variant detected by reverse transcription polymerase chain reaction analysis.     ///    \"Therefore, the different EML4-ALK variants so far contain the same 3\' portion of ALK starting with exon 20. \"    ///    A novel EML4-ALK variant: exon 6 of EML4 fused to exon 19 of ALK..     ///    Subsequent sequencing revealed an EML4-ALK fusion variant in which exon 6 of EML4 was fused to exon 19 of ALK. '), ('1341', 'TMPRSS2_ETV4', '', 'TMPRSS2', 'ETV4', '20616363', '27', 'prostate cancer', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'Fluorescently labeled probes specific for ERG-related rearrangements involving the TMPRSS2-ERG fusion as well as TMPRSS2-ETV1 and TMPRSS2-ETV4 were used to assess samples for gene rearrangements indicative of malignancy under a design of sequential trial. '), ('1342', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '20616363', '27', 'prostate cancer', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'Fluorescently labeled probes specific for ERG-related rearrangements involving the TMPRSS2-ERG fusion as well as TMPRSS2-ETV1 and TMPRSS2-ETV4 were used to assess samples for gene rearrangements indicative of malignancy under a design of sequential trial. '), ('1343', 'TMPRSS2_ETV1', '', 'TMPRSS2', 'ETV1', '20616363', '27', 'prostate cancer', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'Fluorescently labeled probes specific for ERG-related rearrangements involving the TMPRSS2-ERG fusion as well as TMPRSS2-ETV1 and TMPRSS2-ETV4 were used to assess samples for gene rearrangements indicative of malignancy under a design of sequential trial. '), ('1344', 'MUM1_IRF4', '', 'MUM1', 'IRF4', '16943530', '27', 'B cell lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'DLBCL from 66 newly diagnosed poor-risk patients, treated in two sequential prospective Dutch Hemato-Oncology Association (HOVON) trials, were studied retrospectively for expression of CD10, bcl6, MUM1/IRF4, bcl2, Ki67, and CD21+ follicular dendritic cells (FDC) by immunohistochemistry, and for the breakpoints of BCL2, BCL6, and MYC by fluorescent in situ hybridization (FISH). '), ('1345', 'TEL_AML1', '', 'TEL', 'AML1', '16537719', '27', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Among B-lineage acute lymphoblastic leukemia patients, the percentage of TEL-AML1 translocations was significantly lower in Hispanics (13%) than in non-Hispanic Whites (24%.     ///    The mechanistic basis for this 2-fold variation in frequency of TEL-AML1 may be due to ethnic-specific risk factors or genetics and should be explored further.. '), ('1346', 'RRAGB_OPHN1', '', 'RRAGB', 'OPHN1', '25651471', '27', 'perivascular epithelioid cell neoplasm\r\r', 'FISH ', '', '', '', '', '', '', '', 'In addition, novel RAD51B gene rearrangements were identified in 3 (8%) uterine PEComas, which showed a complex fusion pattern and were fused to RRAGB/OPHN1 genes in 2 cases. '), ('1347', 'MYC_IG', '', 'MYC', 'IG', '26373676', '27', 'B cell lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'MYC translocation partner was an IG gene in 24 cases (MYC-IG) and a non-IG gene (MYC-non-IG) in 26 of 50 evaluable cases.     ///    \"In conclusion, we show in this prospective randomized trial that the adverse prognostic impact of MYC-R is correlated to the MYC-IG translocation partner gene in DLBCL patients treated with immunochemotherapy. \"    ///    MYC-IG rearrangements are negative predictors of survival in DLBCL patients treated with immunochemotherapy: a GELA/LYSA study..     ///    \"In multivariate analyses, MYC-IG predicted poor progression-free survival (P = .0051) and OS (P = .0006) independently from the International Prognostic Index and the Hans classifier. \"    ///    \"Noteworthy, MYC-IG patients had shorter overall survival (OS) (P = .0002) compared with MYC-negative patients, whereas no survival difference was observed between MYC-non-IG and MYC-negative patients. \"'), ('1348', 'DEC1_BHLHB2', '3p25.3 / ', 'DEC1', 'BHLHB2', '11226878', '27', '', 'FISH ', '', '', '', '', '', '', '', ' DEC1/BHLHB2 is a novel cAMP-inducible basic helix-loop-helix (bHLH) transcriptional factor isolated from human chondrocyte cultures by the subtraction method [Shen et al. '), ('1349', 'MYC_BCL2', '', 'MYC', 'BCL2', '26016222', '27', 'B cell lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', '[Clinical features in DLBCL and translocation BCL2/c-MYC \"double hit\" lymphoma].. '), ('1350', 'TSC2_TSC1', '', 'TSC2', 'TSC1', '25651471', '27', 'perivascular epithelioid cell neoplasm\r\r', 'FISH ', '', '', 'Tumor_suppressor', '', '', '', '', 'Although most PEComas harbor loss-of-function TSC1/TSC2 mutations, a small subset were reported to carry TFE3 gene rearrangements. '), ('1351', 'MYC_IGH', '', 'MYC', 'IGH', '25229766', '27', 'B cell lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Using fluorescence in situ hybridization with an MYC break-apart and MYC-IGH fusion probe, we found that 13/39 evaluable IB-DLBCLs (33%) harbor translocations involving MYC, in contrast with only 5/68 (7%) in the non-IB-DLBCL group (P<0.01).     ///    \"In conclusion, IB-DLBCLs are genetically characterized by frequent MYC-IGH translocations that often occur without additional BCL2 and/or BCL6 translocations. \"    ///    Diffuse large B-cell lymphomas of immunoblastic type are a major reservoir for MYC-IGH translocations.. '), ('1352', 'NTRK3_ETV6', '', 'NTRK3', 'ETV6', '25503077', '27', 'adenocarcinoma\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', '', '', '', '', 'KB', 'Seq', ' Mammary analogue secretory carcinoma (MASC) is a recently described salivary gland tumour that harbours the recurrent ETV6-NTRK3 translocation. '), ('1353', 'PTC_RET', '', 'PTC', 'RET', '16641909', '26', '', 'FISH', 'Kinase', 'Oncogene', '', '', '', '', '', 'In all, 77% of cases showed RET/PTC rearrangements and a distinct intratumoural genetic heterogeneity. '), ('1354', 'TPM3_NTRK1', '', 'TPM3', 'NTRK1', '26472021', '26', 'colorectal cancer;gastric cancer\r\r', 'FISH', 'Kinase', '', '', '', '', 'KB', 'Seq', 'NGS was performed on the 3 IHC positive cases and confirmed TPM3-NTRK1 rearrangements in the two CRC cases.    ///    NGS was performed on the 3 IHC positive cases and confirmed TPM3-NTRK1 rearrangements in the two CRC cases. '), ('1355', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '17334343', '26', 'prostate cancer', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'As intronic loss of genomic DNA between TMPRSS2 and ERG has been identified as a mechanism of TMPRSS2:ERG fusion, our assays allowed us to detect deletion of the 3\' end of TMPRSS2 and the 5\' end of ERG in 41 and 39% of cases rearranged for respective genes.    ///    \"As intronic loss of genomic DNA between TMPRSS2 and ERG has been identified as a mechanism of TMPRSS2:ERG fusion, our assays allowed us to detect deletion of the 3\' end of TMPRSS2 and the 5\' end of ERG in 41 and 39% of cases rearranged for respective genes. \"    ///    \"Overall, 54 and 2% of cases demonstrated TMPRSS2:ERG and TMPRSS2:ETV1 fusions, respectively. \"'), ('1356', 'PAX7_FOXO1', 't(2;13)(q35;q14) / t(1;13)(p36;q14) / ', 'PAX7', 'FOXO1', '18303411', '26', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'A home-brew RT-PCR that could detect both PAX3-FOXO1 and PAX7-FOXO1 was also performed. '), ('1357', 'EWS_ERG', 't(11;22)(q24;q12) / t(21;22)(q22;q12) / ', 'EWS', 'ERG', '15714060', '26', 'neuroectodermal tumor;ewing sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'RT-PCR detected 13 (72%) EWS-FLI-1 fusions (type I=10, type II=3) and 2 (11%) EWS-ERG fusions. '), ('1358', 'EML4_ALK', '', 'EML4', 'ALK', '24756793', '26', 'non small cell lung cancer;lung cancer\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'There is convincing clinical evidence for the effectiveness in non-small-cell lung cancer (NSCLC) harboring EML4-ALK rearrangements resulting in constitutional activation of the ALK-RTK. '), ('1359', 'RARA_PML', 't(15;17)(q22;q12) / ', 'RARA', 'PML', '19950129', '26', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'RT-PCR and FISH were positive for PML-retinoic acid receptor-alpha in 169 of 172 (98%) and 90 of 94 (96%) cases, respectively. '), ('1360', 'ETV1_BRAF', '', 'ETV1', 'BRAF', '25073704', '26', 'melanoma\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'We investigated ETV1 in 68 human melanoma brain metastases using FISH for ETV1 gene (located at chromosome 7p21) and centromere chromosome 7 and immunohistochemistry for ETV1, BRAF (V600E) , and ETV1/BRAF associated proteins pMSK1, pRSK1, pp38, pMEK1/2, MAPKAP kinase 2, CIC, HIF-1alpha and Ki-67. '), ('1361', 'PGD_IVF', '', 'PGD', 'IVF', '22581430', '26', '', 'FISH', '', '', '', '', '', '', '', 'Based on this analysis it appears that the biopsy of two blastomeres from embryos with ?7 blastomeres on day 3 is a valid and successful approach for couples presenting for IVF-PGD for a chromosome rearrangement..     ///    IVF-PGD couples had either one or two blastomeres biopsied from all embryos with ?7 blastomeres on day 3 post oocyte collection. '), ('1362', 'RET_PTC3', '', 'RET', 'PTC3', '7529046', '26', '', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'The fusion event corresponding to the rearrangement reciprocal to that leading to the formation of RET/PTC3 was also identified and characterized.     ///    \"This previously uncharacterized gene is fused with the tyrosine kinase (tk) domain of the RET proto-oncogene to generate the oncogenic sequence RET/PTC3, thus providing a third example of RET oncogenic activation in papillary thyroid carcinomas. \"    ///    The karyotype of two RET/PTC3 positive tumors did not show any evidence of chromosome 10 abnormalities.     ///    The two genes generating RET/PTC3 are localized in chromosomal band 10q11.2..     ///    The data indicate that a cytogenetically undetectable paracentric inversion within 10q11.2 generates RET/PTC3.. ');
