INSERT INTO `ChimerPub_dump` VALUES ('1363', 'PRKY_PRKX', '', 'PRKY', 'PRKX', '21088380', '26', '', 'FISH ', 'Kinase', '', '', '', '', '', '', 'Molecular cytogenetic analyses using BAC clones specific to the X and Y chromosomes revealed that the translocation is not mediated by an abnormal PRKX-PRKY recombination event in any of our patients. '), ('1364', 'ETO_AML1', '', 'ETO', 'AML1', '16732938', '26', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Six cases with complex karyotype abnormalities were confirmed to be AML1/ETO positive by the successive R-banding and FISH assay, and the involved genes were clearly visualized in FISH image.     ///    21) AML were positive for AML1/ETO in FISH assay.     ///    21) by CCA and one negative for AML1/ETO by RT-PCR. '), ('1365', 'P2RY8_CRLF2', '', 'P2RY8', 'CRLF2', '21527530', '26', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia;down syndrome\r\r', 'FISH', '', '', '', 'Receptor', '', '', '', 'Investigation of clonal architecture provided evidence that these abnormalities, and P2RY8-CRLF2, were secondary to chromosome 21 rearrangements. '), ('1366', 'PSA_NCAM', '', 'PSA', 'NCAM', '19429186', '26', '', 'FISH ', '', '', '', '', '', '', '', 'C6 glioma cell cultures differentiated with retinoic acid (10microM) were exposed to NMDA (100microM) or to antagonist MK-801 (200nM) prior to treatment with NMDA and cells were harvested after 24h of treatment to study the expression of total NCAM, PSA-NCAM, nuclear factor kappaB (NF-kappaB) and activator protein-1 (AP-1) by Western blotting and dual immunocytofluorescence and expression of PST mRNA by fluorescent in situ hybridization (FISH).     ///    We report here the transcriptional regulation of PSA-NCAM expression by subtoxic dose of NMDA in retinoic acid differentiated C6 glioma cell cultures.     ///    \"Significant increase in the levels of PSA-NCAM, NF-kappaB, AP-1 and PST mRNA was observed in NMDA treated cultures. \"    ///    The results elucidate the possible cellular and molecular mechanisms of regulation of PSA-NCAM expression in astroglial cultures by extracellular signals..     ///    Transcriptional regulation of PSA-NCAM expression by NMDA receptor activation in RA-differentiated C6 glioma cultures..     ///    \"Control of polysialylated neural cell adhesion molecule (PSA-NCAM) expression by NMDA receptor activation has been described in several systems, suggesting a functional link between these two proteins. \"'), ('1367', 'TEL_AML1', '', 'TEL', 'AML1', '27150991', '26', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'Out of 251 children with B-ALL, 77 cases were TEL-AML1(+) , 28 cases were E2A-PBX1(+) , 10 cases were MLL-AF4(+) , 11 cases were BCR-ABL(+) , the total positive rate was 50.2%, 82.5% showed IgH VH-JH rearrangement, 53.4% showed IgK rearrangement. '), ('1368', 'GSK3_AKT1', 't(11;14)(q13;q32) / t(11;14)  / ', 'GSK3', 'AKT1', '21334716', '26', 'B cell lymphoma;mantle cell lymphoma;lymphoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'instead, there was monoallelic deletion of AKT interacting protein and glycogen synthase kinase-3 ? genes, both involved in the AKT/glycogen synthase kinase-3 ? cascade-controlling nuclear levels of cyclin D1. '), ('1369', 'RET_PTC1', '', 'RET', 'PTC1', '26910217', '26', '', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'One tumor with a RET/PTC1 rearrangement and another with RET/PTC3 were identified in the pediatric population (15%).     ///    \"Additionally, we examined the rate of RAS point mutations with real-time polymerase chain reaction and rearrangements of RET/PTC1 and RET/PTC3 in the pediatric group with fluorescence in situ hybridization. \"'), ('1370', 'MET_ALK', '', 'MET', 'ALK', '25344360', '26', 'adenocarcinoma\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', '', '', ' Patients with advanced lung adenocarcinomas expressing ALK rearrangements are highly responsive to crizotinib, a dual ALK/c-MET inhibitor. '), ('1371', 'TEL_AML1', '', 'TEL', 'AML1', '11564064', '26', '', 'FISH ', '', '', '', '', '', '', '', 'In addition, a near-haploid karyotype with 27 chromosomes was found in one patient and TEL/AML1 rearrangements were detected in two cases.     ///    \"Probes detecting MLL, BCR/ABL and TEL/AML1 rearrangements were used for the interphase studies, along with centromere-specific probes from chromosomes 17 and X. \"'), ('1372', 'AE3_AE1', 'p11;q11 / ', 'AE3', 'AE1', '23223956', '26', 'synovial sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Immunohistochemistry showed that vimentin, CD99 and Bcl-2 were diffusely positive in most cells, and focal reactivity for cytokeratin (AE1/AE3) and S-100 protein was also observed. '), ('1373', 'BCR_ABL1', '', 'BCR', 'ABL1', '26637731', '26', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Fluorescence in situ hybridization (FISH) to identify BCR-ABL1 in interphase nuclei and mutational analysis of the BCR-ABL1 kinase domain (KD) are used in certain clinical circumstances.     ///    \" Monitoring treatment responses in chronic myeloid leukemia (CML) is based on complete blood counts (CBCs) to determine hematologic response, karyotyping of bone marrow metaphase cells to delineate cytogenetic response and quantitative reverse transcription polymerase chain reaction (qPCR) to quantify expression of BCR-ABL1 mRNA (molecular response. \"    ///    \"Today many laboratories report BCR-ABL1 qPCR results on the international scale (IS), a system based on the conversion of laboratory-specific numerical values to conform to a universal scale. \"'), ('1374', 'RET_PTC', '', 'RET', 'PTC', '19495791', '26', 'thyloid cancer\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC rearrangements arising from a small population of papillary thyroid carcinoma cells, possible candidate for passenger mutation..     ///    \"However, the prevalence of RET/PTC differs considerably among investigators, and its impact on cancer progression has been controversial. \"    ///    \"Even though RET/PTC is a specific genetic event in the carcinomas, our results suggested the possibility of RET/PTC as \"\"passenger\"\" abnormalities rather than \"\"driver\"\" oncogenic mutation during thyroid cancer progression, warranting further studies on mechanisms and implication of RET gene instability.. \"    ///    The remaining seven tumors with split RET signals had no RET/PTCs amplicon.     ///    \"Among tumors with split RET signals, 36.4% (4/11) of tumors exhibited detectable messenger RNA of RET/PTC1 or RET/PTC3. \"    ///    \"In conclusion, the current study disclosed that RET/PTCs occur in a small population of tumor cells in papillary thyroid carcinomas. \"    ///    \"In RT-PCR analysis, RET/PTC was found in 28.6% (4/14) of tumors. \"    ///    \"FISH DNA probes included RET locus, and PCR primers were designed targeting RET/PTC1 or RET/PTC3. \"'), ('1375', 'NST_IDC', 't(6;9)(q22-23;p23-24) / ', 'NST', 'IDC', '22015727', '26', 'adenoid cystic carcinoma;breast cancer;breast carcinoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Contrary to grade-matched IDC-NSTs, AdCCs lacked 1q gains and 16q losses, and in contrast with basal-like IDC-NSTs, AdCCs displayed fewer gene copy number aberrations and expressed MYB and BRCA1 at significantly higher levels.     ///    \"Breast AdCCs constitute an entity distinct from grade-matched and triple-negative and basal-like IDC-NSTs, emphasizing the importance of histological subtyping of triple-negative and basal-like breast carcinomas.. \"    ///    and (iii) to determine whether AdCCs are genomically distinct from histological grade-matched or triple-negative and basal-like invasive ductal carcinomas of no special type (IDC-NSTs).     ///    \"Fourteen AdCCs, 14 histological grade-matched IDC-NSTs, and 14 IDC-NSTs of triple-negative and basal-like phenotype were microdissected and subjected to high-resolution microarray-based comparative genomic hybridization (aCGH). \"'), ('1376', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '18617057', '26', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'The most common abnormality was the p16 deletion (22.8%), followed by MLL and ETV6/RUNX1 rearrangements (8.7%), and the BCR/ABL fusion was the least frequent (2.7%).     ///    \" We evaluated the prevalence of BCR/ABL, MLL, and ETV6/RUNX1 rearrangements as well as CDKN2A (alias p16) deletion in a group of Mexican children with acute lymphoblastic leukemia (ALL) to determine whether the changes coexist, and to compare the incidences found with other reports in the literature. \"    ///    \"In addition, we confirmed the low frequency of the ETV6/RUNX1 fusion observed in Hispanics. \"'), ('1377', 'ETO_AML1', 't(8;21)  / t(8;21) / ', 'ETO', 'AML1', '14623463', '26', 'acute myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'This aberrant location of AML1/ETO gene and the final karyotype of 45,X,-Y,ins(21;8)(q22;q22q22) could not be determined without molecular analysis.     ///    \"We concluded that complicated translocations involving chromosomes 8 and 21 in this patient resulted in the development of the chimeric gene, AML1/ETO, on the long arm of chromosome 21. \"    ///    Molecular study by reverse transcriptase polymerase chain reaction revealed the presence of a typical AML1/ETO chimeric gene. '), ('1378', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '20473283', '26', 'prostate cancer', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'Aim of this study was to assess, whether the ERG rearrangement and the distinct deletion site between TMPRSS2 and ERG, both predominantly resulting in a TMPRSS2-ERG fusion, occur in tumors other than prostate cancer. '), ('1379', 'CCND1_IGH', 't(11;14)(q13;q32) / ', 'CCND1', 'IGH', '15001994', '26', 'mantle cell lymphoma;lymphoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Our study indicates that cyclin D1/IgH-fusion fluorescence in situ hybridization analysis could be used to determine the presence and character of circulating mantle cell lymphoma cells in peripheral blood, thus enhancing our ability to evaluate leukemic mantle cell lymphoma and minimum residual disease..     ///    \"In this study, we performed cyclin D1/IgH-probe fusion fluorescence in situ hybridization analysis on 223 peripheral blood samples: 185 from 125 mantle cell lymphoma patients, and 38 normal controls. \"'), ('1380', 'SDC4_ROS1', '', 'SDC4', 'ROS1', '25905642', '26', 'non small cell lung cancer;squamous cell carcinoma;lung cancer;adenocarcinoma\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Variants of ROS1 rearrangement were SDC4-ROS1 (E2:E32), SDC4-ROS1 (E4:E32) and SDC4-ROS1 (E4:E34). '), ('1381', 'BCR_ABL1', '', 'BCR', 'ABL1', '20682391', '26', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Cytogenetic and molecular characterization of double inversion 3 associated with a cryptic BCR-ABL1 rearrangement and additional genetic changes.. '), ('1382', 'SF1_AD4BP', '', 'SF1', 'AD4BP', '18484182', '26', '', 'FISH', '', '', '', 'Receptor', '', '', '', 'AR and SF-1/Ad4BP were located on the short arms of the W and X and the long arms of Z and Y, and Sox3 was mapped to the different locations on the long arms between the Z and W and between the X and Y, probably as a result of multiple rearrangements that occurred during the process of sex chromosome differentiation.     ///    \"Three genes, AR, SF-1/Ad4BP and Sox3, were localized to both the ZW and XY chromosomes, and their locations were all different between the Z and W and between the X and Y. \"'), ('1383', 'PSA_NCAM', '', 'PSA', 'NCAM', '17499225', '26', 'neuroblastoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'SH-SY5Y cell cultures differentiated with retinoic acid (10 microM) were exposed to NMDA (100 microM) or to antagonist MK-801 (200 nM) prior to treatment with NMDA and cells were harvested after 24 h of treatment to study the expression of PSA-NCAM, nuclear factor kappaB (NF-kappaB) and activator protein-1 (AP-1) by Western blotting and dual immunocytofluorescence and expression of polysialyltransferase (PST) mRNA by fluorescent in situ hybridization (FISH).     ///    We observed the induction of transcription factors NF-kappaB and AP-1 along with PSA-NCAM expression in response to NMDA receptor activation.     ///    \"Also, PSA-NCAM regulation in response to NMDA receptor activity was shown to be transcriptionally controlled, as seen by temporal and spatial changes observed in the expression of PST mRNA in NMDA-treated SH-SY5Y cell cultures. \"    ///    We report here the transcriptional regulation of PSA-NCAM expression by subtoxic dose of NMDA in retinoic acid-differentiated SH-SY5Y cell cultures.     ///    \"Control of polysialylated neural cell adhesion molecule (PSA-NCAM) expression by NMDA receptor activation has been described in several systems, suggesting a functional link between these two proteins. \"    ///    Thus understanding the regulation of PSA-NCAM expression by NMDA receptor-mediated activity may represent a fundamental prerequisite for the development of therapies in order to maintain neuronal plasticity throughout life and functional recovery after brain damage.. '), ('1384', 'VCFS_DGS', '', 'VCFS', 'DGS', '16307865', '26', 'velocardiofacial syndrome\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'It is now recognized that nonallelic homologous recombination (NAHR) through LCRs flanking the chromosome 22q11.2 region leads to genome rearrangements and results in the DGS/VCFS.     ///    The differentially deleted regions contain several hypothetical proteins and UniGene clusters and may partially explain the clinical heterogeneity observed in DGS/VCFS patients with the 3-Mb common deletion.     ///    \"To implement further sequence information in molecular medicine, we designed a real-time quantitative PCR assay and validated the method in 122 patients with suspected DGS/VCFS. \"'), ('1385', 'NUT_BRD4', '', 'NUT', 'BRD4', '22033856', '26', '', 'FISH ', 'Kinase', '', '', '', '', 'KB', '', 'The tumor is characterized by a rearrangement on the nuclear protein in testis (NUT) gene, located on chromosome 15q14, resulting in the BRD4-NUT fusion oncogene. '), ('1386', 'BRCA2_BRCA1', '', 'BRCA2', 'BRCA1', '21327470', '26', 'breast cancer;breast carcinoma\r\r', 'FISH ', '', '', 'Tumor_suppressor', '', '', '', '', 'Amplification of EMSY and CCND1 were examined in 58 BRCA1-associated, 64 BRCA2-associated, and 242 familial non-BRCA1/BRCA2 breast cancers using fluorescent in situ hybridization (FISH).     ///    \"EMSY amplification was detected in 8% of BRCA1-associated, 0% of BRCA2-associated, and 9% of familial non-BRCA1/BRCA2 breast tumors (P = 0.036). \"    ///    \"CCND1 was amplified in 4% of BRCA1-associated, 13% of BRCA2-associated and 21% of non-BRCA1/BRCA2 breast tumors (P = 0.054). \"    ///    BRCA2-associated breast tumors are less likely than non-BRCA1/BRCA2 familial breast cancers to exhibit EMSY amplification. '), ('1387', 'EML4_ALK', '', 'EML4', 'ALK', '23561899', '26', 'non small cell lung cancer;lung cancer\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Crizotinib is a small orally-administered ALK inhibitor for patients with non-small cell lung cancer with EML4-ALK rearrangement (echinoderm microtubule-associated protein-like 4 and anaplastic lymphoma kinase). '), ('1388', 'RET_PTC3', '', 'RET', 'PTC3', '26910217', '26', '', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'One tumor with a RET/PTC1 rearrangement and another with RET/PTC3 were identified in the pediatric population (15%).     ///    \"Additionally, we examined the rate of RAS point mutations with real-time polymerase chain reaction and rearrangements of RET/PTC1 and RET/PTC3 in the pediatric group with fluorescence in situ hybridization. \"'), ('1389', 'TEL_AML1', '', 'TEL', 'AML1', '18845499', '26', 'leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'In the last two years 30 newly diagnosed or recurrent childhood ALL bone marrow samples were analyzed for chromosomal abnormalities with conventional G-banding and interphase-fluorescence in situ hybridization (I-FISH) using probes to detect BCR/ABL fusions, cryptic TEL/AML1 and MLL rearrangements and p16(9p21) tumor suppressor gene deletions.     ///    one case displayed 5-6 copies and in another case amplification of AML1 gene on der(21) was combined with TEL/AML1 fusion of the homologue AML1 gene and deletion of the remaining TEL allele.     ///    TEL/AML1 fusion signals were identified in four patients. '), ('1390', 'BCL2_IGH', '', 'BCL2', 'IGH', '12460236', '26', 'chronic lymphocytic leukemia;leukemia;B cell lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'FISH studies using LSI bcl-2/IgH probe allowed quantifying the clonal cell population with this rearrangement (4% and 6.6% of cells at diagnosis and RT, respectively).     ///    The low percentage of cells with the 13q14 deletion and bcl-2/IgH rearrangement suggests that they were secondary events that resulted from clonal evolution. '), ('1391', 'RET_PTC', '', 'RET', 'PTC', '15356021', '26', 'thyroid carcinoma;papillary carcinoma\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', '', '', 'These findings suggest that because RET/PTC rearrangements are not present in a majority of tumor cells, either a fraction of post-Chernobyl papillary thyroid tumors are of multiclonal origin, or ret rearrangement is a later, subclonal event..     ///    Heterogeneity in the distribution of RET/PTC rearrangements within individual post-Chernobyl papillary thyroid carcinomas.. '), ('1392', 'CD5_CD19', 't(11;14)(q13;q32) / ', 'CD5', 'CD19', '15001994', '26', 'mantle cell lymphoma;lymphoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'The mean numbers of single and- double-fusion signals and the mean number of CD5/CD19-positive cells, absolute blood lymphocyte count, and white blood cell count were significantly higher in peripheral blood and corresponding bone marrow samples with mantle cell lymphoma-positive flow cytometry. '), ('1393', 'PRKD1_DDX3X', '', 'PRKD1', 'DDX3X', '24942367', '25', 'adenocarcinoma\r\r', 'FISH ', 'Kinase', '', '', '', 'Transcription_Factor', '', '', 'The RNAseq of 2 CAMSGs showed ARID1A-PRKD1 and DDX3X-PRKD1 fusions, respectively, while no fusion candidates were identified in two PLGAs. '), ('1394', 'TRNT_TRNL', '', 'TRNT', 'TRNL', '25557021', '25', '', 'FISH ', '', '', '', '', '', '', '', 'and alcohol dehydrogenase 1A, Adh) and plastid (trnT-trnL spacer, trnL intron, trnL-trnF spacer and rpl16 intron) loci. '), ('1395', 'KRAS_EGFR', '', 'KRAS', 'EGFR', '26095438', '25', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'The histologic findings and ALK immunohistochemistry results were reviewed and compared with the results of ALK-FISH and EGFR/KRAS mutation status. '), ('1396', 'TRNL_TRNF', '', 'TRNL', 'TRNF', '25557021', '25', '', 'FISH ', '', '', '', '', '', '', '', 'and alcohol dehydrogenase 1A, Adh) and plastid (trnT-trnL spacer, trnL intron, trnL-trnF spacer and rpl16 intron) loci. '), ('1397', 'KRAS_EGFR', '', 'KRAS', 'EGFR', '22071784', '25', 'adenocarcinoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', ' In 2011, the French National Cancer Institute recommended ALK-fluorescence in situ hybridization (FISH) testing in all EGFR/KRAS-negative adenocarcinomas by all the hospital molecular genetics platforms of cancers. '), ('1398', 'AE3_AE1', '', 'AE3', 'AE1', '20348883', '25', 'embryonal neoplasm;medulloblastoma;neuroectodermal tumor', 'FISH', '', '', '', '', '', '', '', 'Immunostains directed against INI1, CD57, S-100 protein, NeuN, WT1, neurofilament, CD99, GFAP, synaptophysin, chromogranin, AE1/AE3 cytokeratin, Fli-1 and collagen IV were performed for each case. '), ('1399', 'GFPT1_ALK', '', 'GFPT1', 'ALK', '26295973', '25', 'sarcoma;thyroid cancer', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Additional PCR analysis, followed by Sanger sequencing, confirmed the GFPT1-ALK fusion, indicating that the fusion is a result of intra-chromosomal translocation or deletion.     ///    Glutamine:fructose-6-phosphate transaminase 1 (GFPT1)-ALK and echinoderm microtubule-associated protein-like 4 (EML4)-ALK fusions were identified.     ///    \"Furthermore, the GFPT1-ALK fusion may be a potential candidate for molecular target therapy. \"'), ('1400', 'SSX_SS18', '', 'SSX', 'SS18', '21536237', '25', 'bone cyst', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'RT-PCR showed no evidence of a SS18-SSX fusion, and immunohistochemistry was negative for TLE1, EMA, and cytokeratin AE1/3 expression. '), ('1401', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '15704129', '25', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' This study was undertaken in order to compare the interphase and metaphase cytogenetics of 28 patients with ETV6/RUNX1 positive acute lymphoblastic leukemia, at diagnosis and relapse.     ///    ETV6/RUNX1 fusion at diagnosis and relapse: some prognostic indications..     ///    The significant fusion positive population heterogeneity revealed at interphase by a commercial probe for ETV6/RUNX1 fusion has not been described before. '), ('1402', 'PPAR_PAX8', '', 'PPAR', 'PAX8', '23738683', '25', 'thyroid carcinoma\r\r', 'FISH', '', '', '', 'Receptor', '', '', '', 'There was no correlation between the extent of capsular or vascular invasion and PAX8-PPAR?, or between lymph node or haematogenous metastasis and PAX8-PPAR?.     ///    \"Overall survival (OS), tumour-specific survival (TSS) and relapse-free-survival (RFS) were not influenced by PAX8-PPAR?. \"'), ('1403', 'TFE3_NONO', '', 'TFE3', 'NONO', '23828314', '25', 'chordoma;papillary renal cell carcinoma;perivascular epithelioid cell tumors;renal cell carcinoma', 'FISH ', '', '', '', '', 'Transcription_Factor', '', '', 'Analysis of the UOK-109 renal carcinoma cell line confirmed the break-apart TFE3 probe set can distinguish the subtle TFE3/NONO fusion-associated inversion of chromosome X. '), ('1404', 'P52_P100', '', 'P52', 'P100', '22538516', '25', 'B cell lymphoma;lymphoma;lymphoproliferative disorder\r\r', 'FISH', '', '', '', '', '', '', '', 'We show that this lymphoma type is a neoplasm with prominent classical and alternative nuclear factor-kB pathway activation in neoplastic cells (79% of the cases showed nuclear staining for p105/p50, 74% for p100/p52 and 63% for both proteins), with higher frequency than that observed in a control series of EBV-negative diffuse large B-cell lymphoma (?(2) <0.001). '), ('1405', 'TFE3_ASPSCR1', '', 'TFE3', 'ASPSCR1', '23828314', '25', 'chordoma;papillary renal cell carcinoma;perivascular epithelioid cell tumors;renal cell carcinoma', 'FISH ', '', 'Oncogene', '', '', '', 'KB', '', 'We further demonstrate the unbalanced separation is atypical, with TFE3/ASPSCR1 fusion and loss of the derivative X chromosome but also an unanticipated normal X chromosome gain in both males and females. '), ('1406', 'UBE3A_SNRPN', '', 'UBE3A', 'SNRPN', '21145272', '25', 'angelman syndrome;Prader Willi syndrome\r\r', 'FISH', '', '', '', '', '', '', 'Seq', 'This duplicated region contains the SNRPN/UBE3A locus. '), ('1407', 'MALT1_API2', 't(11;18) / t(14;18) / t(1;14) / ', 'MALT1', 'API2', '22243778', '25', 'MALT lymphoma;lymphoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'In this study, we examined 14 cases of thymic MALT lymphomas for API2-MALT1 fusion using 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. '), ('1408', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '26060265', '25', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2-ERG fluorescence in situ hybridisation (FISH) analyses were performed in 74 biopsies using the FISH ZytoLight TriCheck Probe (SPEC ERG/TMPRSS2). '), ('1409', 'DLX2_DLX1', '', 'DLX2', 'DLX1', '24412318', '25', '', 'FISH;PCR', '', '', '', '', '', '', '', 'The 2q31.1 deletion resulted in the loss of one copy of several known disease genes, including GAD1, DCAF17, SLC25A12 and ITGA6 associated with mental retardation and facial abnormalities and DLX1/DLX2 partially associated with limb abnormalities. '), ('1410', 'BCR_ABL1', '', 'BCR', 'ABL1', '9216726', '25', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The absence of ABL-BCR gene expression in this and other patients described in the literature with this subtype of Ph-negative CML, does not seem to have an impact on the clinical course of the disease.. '), ('1411', 'PMF_MPD', '', 'PMF', 'MPD', '17976519', '25', 'myeloproliferative disorder;non Hodgkin lymphoma;multiple myeloma;lymphoma;polycythemia vera\r\r', 'FISH ', '', '', '', '', '', '', '', 'Of the 39 patients, 8 had PV with chromosome 9 abnormalities, 7 had PMF/MPD showing an abnormal karyotype, 10 PV patients were cytogenetically normal, and 14 patients had 9p24 chromosomal abnormalities. '), ('1412', 'VCFS_DGS', '', 'VCFS', 'DGS', '21345209', '25', 'DiGeorge syndrome;velocardiofacial syndrome', 'FISH ', '', '', '', '', '', '', '', ' Deletions of chromosome 22q11 are present in over 90% of cases of DiGeorge or Velo-Cardio-Facial syndrome (DGS/VCFS). '), ('1413', 'P50_P105', '', 'P50', 'P105', '22538516', '25', 'B cell lymphoma;lymphoma;lymphoproliferative disorder\r\r', 'FISH', '', '', '', '', '', '', '', 'We show that this lymphoma type is a neoplasm with prominent classical and alternative nuclear factor-kB pathway activation in neoplastic cells (79% of the cases showed nuclear staining for p105/p50, 74% for p100/p52 and 63% for both proteins), with higher frequency than that observed in a control series of EBV-negative diffuse large B-cell lymphoma (?(2) <0.001). '), ('1414', 'SS18_SSX1', '', 'SS18', 'SSX1', '17334349', '24', 'mesothelioma;synovial sarcoma', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', 'Seq', 'Synovial Sarcoma consistently harbors t(X;18) resulting in SS18-SSX1, SS18-SSX2 and rarely SS18-SSX4 fusion transcripts.    ///    \" Synovial Sarcoma consistently harbors t(X;18) resulting in SS18-SSX1, SS18-SSX2 and rarely SS18-SSX4 fusion transcripts. \"    ///    \"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). \"    ///    SS18-SSX1 was present in 56 monophasic and 18 biphasic synovial sarcoma: SS18-SSX2 was detected in 41 monophasic and 11 biphasic synovial sarcoma. '), ('1415', 'LPP_HMGIC', '', 'LPP', 'HMGIC', '8812423', '24', '', 'FISH ', '', '', '', '', '', '', '', 'Two alternative HMGIC/LPP hybrid transcripts have been detected.     ///    the difference between them is mainly the presence of either two or three LIM domains in the predicted HMGI-C/LPP fusion proteins.. '), ('1416', 'MTG8_AML1', 't(8;21)  / ', 'MTG8', 'AML1', '11594518', '24', 'leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'After the disappearance of leukemic cells, FISH for AML1 splitting was negative, and real-time PCR results for quantitative chimeric AML1/ MTG8 mRNA were less than the detectable level, however, RT-PCR results for AML1/MTG8 mRNA remained positive. '), ('1417', 'MLLT10_MLL', '', 'MLLT10', 'MLL', '15381373', '24', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', 'KB', '', 'These both resulted in a large derivative chromosome 10 and transcription of an MLL/MLLT10 fusion product. '), ('1418', 'EML4_BRAF', '', 'EML4', 'BRAF', '26892443', '24', 'melanoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'RNA sequencing identified a kinase fusion in five of the six sequenced tumors: TPM3-NTRK1 (2 tumors), complex rearrangements involving TPM3, ALK, and IL6R (1 tumor), BAIAP2L1-BRAF (1 tumor), and EML4-BRAF (1 disseminating tumor). '), ('1419', 'TPM3_NTRK1', '', 'TPM3', 'NTRK1', '26892443', '24', 'melanoma\r\r', 'FISH ', 'Kinase', '', '', '', '', 'KB', 'Seq', 'RNA sequencing identified a kinase fusion in five of the six sequenced tumors: TPM3-NTRK1 (2 tumors), complex rearrangements involving TPM3, ALK, and IL6R (1 tumor), BAIAP2L1-BRAF (1 tumor), and EML4-BRAF (1 disseminating tumor). '), ('1420', 'BRAF_BAIAP2L1', '', 'BRAF', 'BAIAP2L1', '26892443', '24', 'melanoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'RNA sequencing identified a kinase fusion in five of the six sequenced tumors: TPM3-NTRK1 (2 tumors), complex rearrangements involving TPM3, ALK, and IL6R (1 tumor), BAIAP2L1-BRAF (1 tumor), and EML4-BRAF (1 disseminating tumor). '), ('1421', 'TAL1_SIL', '', 'TAL1', 'SIL', '15042105', '24', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', '', '', 'Probe sets were developed for the genes TCF3 (E2A) at 19p13, MLL at 11q23, ETV6 at 12p13, BCR at 22q11, SIL-TAL1 at 1q32 and TLX3 (HOX11L2) at 5q35. '), ('1422', 'SSX1_SS18', '', 'SSX1', 'SS18', '25699170', '24', 'gastrointestinal cancer', 'FISH;PCR', '', '', '', '', '', 'KB', '', 'A fusion transcript was amplified in eight cases: either SS18-SSX2 or SS18-SSX1 respectively in four cases each. '), ('1423', 'IGH_BCL2', '', 'IGH', 'BCL2', '15300917', '24', 'non Hodgkin lymphoma;follicular lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Detection of BCL2-IGH rearrangement on paraffin-embedded tissue sections obtained from a small submucosal tumor of the rectum in a patient with recurrent follicular lymphoma.. '), ('1424', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '17972957', '24', 'T ALL\r\r', 'FISH;PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' We describe four cases of childhood B-cell progenitor acute lymphoblastic leukaemia (BCP-ALL) and one of T-cell (T-ALL) with unexpected numbers of interphase signals for ETV6 with an ETV6-RUNX1 fusion probe.     ///    We have also shown breakpoints in intron 2 of ETV6 in two cases of insertion with ETV6-RUNX1 fusion.. '), ('1425', 'SSX2_SS18', '', 'SSX2', 'SS18', '17334349', '24', 'mesothelioma;synovial sarcoma', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', 'Seq', ' Synovial Sarcoma consistently harbors t(X;18) resulting in SS18-SSX1, SS18-SSX2 and rarely SS18-SSX4 fusion transcripts.     ///    \"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). \"    ///    SS18-SSX1 was present in 56 monophasic and 18 biphasic synovial sarcoma: SS18-SSX2 was detected in 41 monophasic and 11 biphasic synovial sarcoma. '), ('1426', 'RUNX1_MECOM', '', 'RUNX1', 'MECOM', '23806810', '24', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Two patients demonstrated two molecular rearrangements simultaneously, with BCR-ABL1 implicated in both, in addition to RUNX1-MECOM in one patient and PML-RARA in another. '), ('1427', 'RARA_PML', '', 'RARA', 'PML', '23806810', '24', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Two patients demonstrated two molecular rearrangements simultaneously, with BCR-ABL1 implicated in both, in addition to RUNX1-MECOM in one patient and PML-RARA in another. '), ('1428', 'BCR_ABL1', '', 'BCR', 'ABL1', '23806810', '24', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Two patients demonstrated two molecular rearrangements simultaneously, with BCR-ABL1 implicated in both, in addition to RUNX1-MECOM in one patient and PML-RARA in another. '), ('1429', 'EML4_ALK', '', 'EML4', 'ALK', '26268359', '24', 'adenocarcinoma\r\r', 'FISH;PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The KIF5B-RET rearrangement is detected with the frequency of 1??~??2% in \'triple marker\'-negative lung adenocarcinomas, i.e., EGFR, KRAS and EML4-ALK wild type. '), ('1430', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '17011991', '24', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'We report two new cases of childhood ALL, without a ETV6/RUNX1 (alias TEL/AML1) rearrangement, showing high-level amplification of the AML1 gene detected by fluorescence in situ hybridization and comparative genomic hybridization analysis. '), ('1431', 'SSX2_SS18', '', 'SSX2', 'SS18', '25699170', '24', 'gastrointestinal cancer', 'FISH;PCR', '', '', '', '', '', 'KB', 'Seq', 'A fusion transcript was amplified in eight cases: either SS18-SSX2 or SS18-SSX1 respectively in four cases each. '), ('1432', 'TFG_ALK', '', 'TFG', 'ALK', '14631806', '23', 'anaplastic large cell lymphoma;anaplastic large cell lymphoma;lymphoma\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The morphological investigations are supplemented by karyotyping and/or by a demonstration of breakpoint at 2p23 harboring ALK gene (FISH), and by molecular detection of chimeric genes characteristic of ALK+ lymphomas (NPM-ALK, ATIC-ALK, TPM3-ALK, TFG-ALK, and some even rarer rearrangements).    ///    \"The morphological investigations are supplemented by karyotyping and/or by a demonstration of breakpoint at 2p23 harboring ALK gene (FISH), and by molecular detection of chimeric genes characteristic of ALK+ lymphomas (NPM-ALK, ATIC-ALK, TPM3-ALK, TFG-ALK, and some even rarer rearrangements). \"'), ('1433', 'MLL_CBL', '', 'MLL', 'CBL', '12696071', '23', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR ', '', 'Oncogene', 'Tumor_suppressor', '', '', 'KB', 'Seq', 'The results of Southern blotting in conjunction with fluorescence in situ hybridization suggest that the MLL-CBL fusion was the result of an interstitial deletion. '), ('1434', 'ATIC_ALK', '', 'ATIC', 'ALK', '14631806', '23', 'anaplastic large cell lymphoma;anaplastic large cell lymphoma;lymphoma\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'The morphological investigations are supplemented by karyotyping and/or by a demonstration of breakpoint at 2p23 harboring ALK gene (FISH), and by molecular detection of chimeric genes characteristic of ALK+ lymphomas (NPM-ALK, ATIC-ALK, TPM3-ALK, TFG-ALK, and some even rarer rearrangements).    ///    \"The morphological investigations are supplemented by karyotyping and/or by a demonstration of breakpoint at 2p23 harboring ALK gene (FISH), and by molecular detection of chimeric genes characteristic of ALK+ lymphomas (NPM-ALK, ATIC-ALK, TPM3-ALK, TFG-ALK, and some even rarer rearrangements). \"'), ('1435', 'SQSTM1_ALK', '', 'SQSTM1', 'ALK', '23588372', '23', 'B cell lymphoma;lymphoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Here we report a large B-cell lymphoma with a peculiar pattern of diffuse and cytoplasmic immunohistochemical staining and carrying sequestosome 1 (SQSTM1)-ALK rearrangement, identified by reverse transcription polymerase chain reaction analysis and Rapid Amplification of cDNA Ends analysis and confirmed by fluorescence in situ hybridization with specific dual-color fusion probes.     ///    \"Consequently, STAT3 inhibition provides a possible therapeutic target also for lymphomas with SQSTM1-ALK variant translocation.. \"    ///    STAT3 pathway is activated in ALK-positive large B-cell lymphoma carrying SQSTM1-ALK rearrangement and provides a possible therapeutic target.    ///    STAT3 pathway is activated in ALK-positive large B-cell lymphoma carrying SQSTM1-ALK rearrangement and provides a possible therapeutic target.. '), ('1436', 'RB1_CLLS2', 't(14;18)  / t(11;14)  / del(10)(q22q24) / del(7q)  / ', 'RB1', 'CLLS2', '10862046', '23', 'MALT Lymphoma', 'FISH ', '', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Deletions involving band 13q14 were only rarely encountered, challenging a previous report that stated a dissociated D13S25-RB1 status as characteristic in splenic MZBL. '), ('1437', 'SF1_AD4BP', '6p11.2 / ', 'SF1', 'AD4BP', '21656076', '23', '', 'FISH;PCR ', '', '', '', 'Receptor', '', '', '', 'To identify a candidate gene that controls this mechanism, the copy numbers and chromosomal locations of 10 genes with important functions in gonadal differentiation were determined: ATRX, CBX2 (M33), DMRT1, FGF9, NR0B1 (DAX1), NR5A1 (Ad4BP/SF1), RSPO1, SOX9, WNT4, and WT1. '), ('1438', 'PDGFRA_KIT', '5p13.3 / ', 'PDGFRA', 'KIT', '25473890', '23', 'gastrointestinal stromal tumor\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'AMACR-specific fluorescence in situ hybridization and immunohistochemistry were both informative in tissue microarray sections of 350 independent primary gastrointestinal stromal tumors, including 213 cases with confirmed KIT /PDGFRA genotypes. '), ('1439', 'STAT5_JAK2', '16p13.13 / ', 'STAT5', 'JAK2', '16287070', '23', 'B cell lymphoma;lymphoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', ' Activity of Janus kinase 2 (JAK2) in the JAK2/STAT5 signaling pathway is critically controlled by suppressor of cytokine signaling-1 (SOCS-1). '), ('1440', 'BCR_ABL1', '', 'BCR', 'ABL1', '16434314', '23', 'leukemia\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Nevertheless, we detected a ABL/BCR (1b-b4) transcript in the two patients.     ///    \"In CML patients with der(9) deletion, reportedly no ABL/BCR transcript is detected. \"'), ('1441', 'NPM_ALK', '', 'NPM', 'ALK', '14631806', '23', 'anaplastic large cell lymphoma;anaplastic large cell lymphoma;lymphoma\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'The morphological investigations are supplemented by karyotyping and/or by a demonstration of breakpoint at 2p23 harboring ALK gene (FISH), and by molecular detection of chimeric genes characteristic of ALK+ lymphomas (NPM-ALK, ATIC-ALK, TPM3-ALK, TFG-ALK, and some even rarer rearrangements). '), ('1442', 'CTNNB1_TCF', '10p11.2 / ', 'CTNNB1', 'TCF', '11295046', '23', 'uterine neoplasm', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' Mouse Frizzled-8, encoding a WNT receptor, is a potent cancer-associated gene to activate the beta-catenin-TCF pathway.     ///    Up-regulation of FZD8 might play key roles in several types of human cancer through activation of the beta-catenin-TCF pathway.. '), ('1443', 'RUNX1_ETV6', 'del(9p)  / del(12p) / t(12;21) / ', 'RUNX1', 'ETV6', '17690704', '23', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' Seventeen ETV6/RUNX1-positive pediatric acute lymphoblastic leukemias were investigated by high-resolution array-based comparative genomic hybridization (array CGH), gene expression profiling and fluorescence in situ hybridization.     ///    Combined high-resolution array-based comparative genomic hybridization and expression profiling of ETV6/RUNX1-positive acute lymphoblastic leukemias reveal a high incidence of cryptic Xq duplications and identify several putative target genes within the commonly gained region.. '), ('1444', 'ETV6_ABL1', 't(12;14) (p12;q11-13) / ', 'ETV6', 'ABL1', '9365838', '23', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The present case suggests that ETV6/ABL positivity may constitute a new genetic subgroup of BCR-negative CML..     ///    \"ETV6/ABL fusion was confirmed by RT-PCR, revealing that the first five exons of ETV6 were fused in frame with ABL at exon 2. \"    ///    BCR/ABL-negative chronic myeloid leukemia with ETV6/ABL fusion..     ///    \"ETV6/ABL chimeric transcripts have previously been reported in acute leukemias, but never before in CML. \"'), ('1445', 'NUP98_NSD1', 't(11;15)(p15;q35) / ', 'NUP98', 'NSD1', '23531517', '23', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Recently, NUP98/NSD1 (t(5. '), ('1446', 'CD5_CD10', 't(11;18)(q21;q21) / ', 'CD5', 'CD10', '19535128', '23', 'acute cholecystitis', 'FISH ', '', '', '', '', '', '', '', 'The morphology was typical of mucosa-associated lymphoid tissue lymphoma, and by immunophenotype, the tumor cells were CD20+ CD5- CD10- CD23- CD43- BCL6- BCL2+ IgM+ IgD- lambda+, with moderate nuclear expression of BCL10. '), ('1447', 'GLIS2_CBFA2T3', 't(11;15)(p15;q35) / ', 'GLIS2', 'CBFA2T3', '23531517', '23', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Other abnormalities consisted of RBM15/MKL1 (n=16), CBFA2T3/GLIS2 (n=13) and MLL-rearrangements (n=13). '), ('1448', 'CD43_CD23', 't(11;18)(q21;q21) / ', 'CD43', 'CD23', '19535128', '23', 'acute cholecystitis', 'FISH ', '', '', '', '', '', '', '', 'The morphology was typical of mucosa-associated lymphoid tissue lymphoma, and by immunophenotype, the tumor cells were CD20+ CD5- CD10- CD23- CD43- BCL6- BCL2+ IgM+ IgD- lambda+, with moderate nuclear expression of BCL10. '), ('1449', 'TEL_AML1', 't(9;22)  / ', 'TEL', 'AML1', '22588930', '23', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Eight-probe (MYC, P16, E2A, TEL/AML1, BCR/ABL , MLL , IGH, and hyperdiploidy) fluorescence in situ hybridization and karyotype analysis were performed for  86 adults and 39 children with acute lymphoblastic leukemia.     ///    \"Eight-probe fluorescence in situ hybridization showed significant differences in the positivity rate of TEL/AML1, BCR/ABL, and hyperdiploidy between adult patients and children with ALL. \"'), ('1450', 'GSTM5_GSTM1', '1p13.3 / ', 'GSTM5', 'GSTM1', '8317488', '23', '', 'FISH;PCR ', '', '', '', '', '', '', '', 'With this clone, the location of the GSTM1-GSTM5 gene cluster on chromosome 1 was confirmed by fluorescence in situ hybridization.     ///    Identification of class-mu glutathione transferase genes GSTM1-GSTM5 on human chromosome 1p13.. '), ('1451', 'APC2_APC', '19p13.3 / ', 'APC2', 'APC', '11691822', '23', 'ovarian cancer\r\r', 'FISH ', '', '', 'Tumor_suppressor', '', '', '', '', ' A second adenomatous polyposis coli (APC)-like gene, APC2/APCL, was recently described and localized to chromosome 19. '), ('1452', 'RBM15_MKL1', 't(11;15)(p15;q35) / ', 'RBM15', 'MKL1', '23531517', '23', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'Other abnormalities consisted of RBM15/MKL1 (n=16), CBFA2T3/GLIS2 (n=13) and MLL-rearrangements (n=13). '), ('1453', 'BCR_ABL1', 't(9;22) / ', 'BCR', 'ABL1', '14697634', '23', 'leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The results show that TD-FISH effectively discriminates between cells with overlapping BCR and ABL signals from cells with true BCR/ABL fusion and improves the ability to quantify minimal residual disease from >23% to >1% of 500 interphase nuclei.. '), ('1454', 'NEU_HER2', '1p36.1 / ', 'NEU', 'HER2', '21204718', '23', 'adenoid cystic carcinoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'However, no tumor showed HER2/ neu immunopositivity. '), ('1455', 'TPM3_ALK', '', 'TPM3', 'ALK', '14631806', '23', 'anaplastic large cell lymphoma;anaplastic large cell lymphoma;lymphoma\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The morphological investigations are supplemented by karyotyping and/or by a demonstration of breakpoint at 2p23 harboring ALK gene (FISH), and by molecular detection of chimeric genes characteristic of ALK+ lymphomas (NPM-ALK, ATIC-ALK, TPM3-ALK, TFG-ALK, and some even rarer rearrangements). '), ('1456', 'RARA_PML', '', 'RARA', 'PML', '11996797', '23', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'This finding was confirmed by fluorescence in situ hybridization using the PML-RARA DNA probe and whole chromosome paints 15 and 17. '), ('1457', 'BIRC2_BIRC1', 'del(13)(q14) / del(17)(p13) / t(4;14)(p16;q32) / ', 'BIRC2', 'BIRC1', '24987674', '23', 'multiple myeloma\r\r', 'FISH', '', '', '', '', '', '', '', 'Furthermore, frequent homozygous deletions of genes playing important role in myeloma biology such as TRAF3, BIRC1/BIRC2, RB1, or CDKN2C were observed. '), ('1458', 'RBM15_MLK1', 't(11;15)(p15;q35) / ', 'RBM15', 'MLK1', '23531517', '23', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Cases with RBM15/MLK1 fared significantly better in terms of pOS and pEFS, although this was not independent from other risk factors in multivariate analysis. '), ('1459', 'CD23_CD10', 't(11;18)(q21;q21) / ', 'CD23', 'CD10', '19535128', '23', 'acute cholecystitis', 'FISH ', '', '', '', '', '', '', '', 'The morphology was typical of mucosa-associated lymphoid tissue lymphoma, and by immunophenotype, the tumor cells were CD20+ CD5- CD10- CD23- CD43- BCL6- BCL2+ IgM+ IgD- lambda+, with moderate nuclear expression of BCL10. '), ('1460', 'VCFS_DGS', '', 'VCFS', 'DGS', '8776594', '23', 'DiGeorge syndrome;velocardiofacial syndrome', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'The construction of a detailed transcription map covering the MDGCR is an essential first step toward the identification of genes important to the etiology of DGS/VCFS, two complex disorders.     ///    The identification of these transcription units in the MDGCR will facilitate their further characterization and help elucidate their role in the etiology of DGS/VCFS.. '), ('1461', 'MAML2_CRTC1', '9p21.3 / 19p13.2 / ', 'MAML2', 'CRTC1', '23018873', '23', 'adenocarcinoma;mucoepidermoid carcinoma\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Genomic profiles and CRTC1-MAML2 fusion distinguish different subtypes of mucoepidermoid carcinoma..     ///    To further characterize this heterogeneous group of tumors we have performed a comprehensive analysis of copy number alterations and CRTC1-MAML2 fusion status in a series of 28 mucoepidermoid carcinomas.     ///    The CRTC1-MAML2 fusion was detected by RT-PCR or fluorescence in situ hybridization in 18 of 28 mucoepidermoid carcinomas (64%). '), ('1462', 'CD43_BCL6', 't(11;18)(q21;q21) / ', 'CD43', 'BCL6', '19535128', '23', 'acute cholecystitis', 'FISH ', '', 'Oncogene', '', '', '', '', '', 'The morphology was typical of mucosa-associated lymphoid tissue lymphoma, and by immunophenotype, the tumor cells were CD20+ CD5- CD10- CD23- CD43- BCL6- BCL2+ IgM+ IgD- lambda+, with moderate nuclear expression of BCL10. '), ('1463', 'CREB_ATF', 't(15;17)  / ', 'CREB', 'ATF', '9129147', '23', '', 'FISH', '', '', '', '', '', '', '', 'The Jem peptide sequence shows a \'leucine-zipper\' dimerisation motif with limited homology to Fos/Jun and ATF/CREB proteins and several putative phosphorylation sites. '), ('1464', 'FUS_ERG', 't(16;21) / t(1;16)  / t(16;21)(p11;q22) / t(16;21)  / t(1;16) (q12;q13) / t(6;12)(q13;q13) / t(6;12)(q21;q13) / ', 'FUS', 'ERG', '9096702', '22', '', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Both the FUS/ERG and ERG/FUS chimeric transcripts were identified by reverse transcriptase-polymerase chain reaction (RT-PCR) analysis. '), ('1465', 'TRKC_ETV6', 't(12;15)(p13;q25) / ', 'TRKC', 'ETV6', '9949179', '22', 'acute myeloid leukemia;myeloid leukemia;leukemia;hematologic malignancy\r\r', 'FISH ', '', '', '', '', '', '', '', 'ETV6-TRKC chimeric transcript encoded the pointed (PNT) domain of the ETV6 gene that fused to the protein-tyrosine kinase (PTK) domain of the TRKC gene. '), ('1466', 'FEV_EWS', '', 'FEV', 'EWS', '11854596', '22', 'ewing sarcoma', 'FISH ', '', '', '', '', '', '', '', 'Molecular studies revealed EWS-FEV fusion transcripts (exon 7 of the EWS gene and exon 2 of the FEV gene). '), ('1467', 'CD74_ROS1', '', 'CD74', 'ROS1', '25567305', '22', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Among these positive cases, 15 were CD74-ROS1, 13 were SLC34A2-ROS1, 13 were SDC4-ROS1 and 12 were TPM3-ROS1.    ///    \"Among these positive cases, 15 were CD74-ROS1, 13 were SLC34A2-ROS1, 13 were SDC4-ROS1 and 12 were TPM3-ROS1. \"'), ('1468', 'TPM3_ROS1', '', 'TPM3', 'ROS1', '25567305', '22', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Among these positive cases, 15 were CD74-ROS1, 13 were SLC34A2-ROS1, 13 were SDC4-ROS1 and 12 were TPM3-ROS1.    ///    \"Among these positive cases, 15 were CD74-ROS1, 13 were SLC34A2-ROS1, 13 were SDC4-ROS1 and 12 were TPM3-ROS1. \"'), ('1469', 'ROS1_CD74', '', 'ROS1', 'CD74', '22215748', '22', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', 'Seq', 'The HCC78 ROS1-rearranged NSCLC cell line and 293 cells transfected with CD74-ROS1 showed evidence of sensitivity to crizotinib. '), ('1470', 'RET_PTC3', '', 'RET', 'PTC3', '19495791', '22', 'thyloid cancer\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', '', '', 'Among tumors with split RET signals, 36.4% (4/11) of tumors exhibited detectable messenger RNA of RET/PTC1 or RET/PTC3.     ///    \"FISH DNA probes included RET locus, and PCR primers were designed targeting RET/PTC1 or RET/PTC3. \"'), ('1471', 'CDKN2B_CDKN2', '', 'CDKN2B', 'CDKN2', '7544647', '22', 'acute myeloid leukemia;acute lymphoblastic leukemia;chronic myeloid leukemia;non Hodgkin lymphoma\r\r\r', 'FISH ', 'Kinase', '', '', '', '', '', '', 'Homozygous deletions of the CDKN2/CDKN2B (p15) region were detected in 10 cases (50%. '), ('1472', 'S100A9_S100A8', '', 'S100A9', 'S100A8', '9920416', '22', '', 'FISH', '', '', '', '', '', '', '', 'The linkage relationships between the genes S100A8-S100A9 and S100A3-S100A4-S100A5-S100A6 were conserved during divergence of human and mouse about 70 million years ago. '), ('1473', 'CCNB3_BCOR', '', 'CCNB3', 'BCOR', '26752546', '22', 'synovial sarcoma;ewing sarcoma;sarcoma\r\r', 'FISH ', '', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'We then screened a total of 75 SBRCTs lacking EWSR1, FUS, SYT, CIC, and BCOR-CCNB3 abnormalities for BCOR break-apart probes by fluorescence in situ hybridization to detect potential recurrent BCOR gene rearrangements outside the typical X-chromosomal inversion.     ///    \"The clinicopathologic features of the SBRCTs with alternative BCOR rearrangements were also compared with a group of BCOR-CCNB3 inversion-positive cases, combining 11 from our files with a meta-analysis of 42 published cases. \"    ///    \"About two-thirds of EWSR1-negative SBRCTs are associated with CIC-DUX4-related fusions, whereas another small subset shows BCOR-CCNB3 X-chromosomal paracentric inversion. \"'), ('1474', 'WWTR1_FOSB', '', 'WWTR1', 'FOSB', '25043949', '22', 'hemangioendothelioma', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', '', '', 'A ZFP36-FOSB fusion was detected in one case, while a WWTR1-FOSB chimeric transcript in the other, both were further validated by fluorescence in situ hybridization (FISH) and reverse transcription polymerase chain reaction (RT-PCR). '), ('1475', 'RARA_PML', '', 'RARA', 'PML', '10792399', '22', '', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Rapid detection of BCR/ABL and PML/RARA using fluorescence in situ hybridization in cytospin preparations.. '), ('1476', 'UBTF_ETV4', '', 'UBTF', 'ETV4', '23814484', '22', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', '', '', 'We identified and confirmed by fluorescent in situ hybridization (FISH) and reverse transcription-polymerase chain reaction the two novel chimeric genes OR51E2-ETV1 and UBTF-ETV4 in two PCas. '), ('1477', 'UTY_DBY', '', 'UTY', 'DBY', '12420137', '22', '', 'FISH', '', '', '', '', '', '', '', 'For the porcine Y Chr, two linkage groups of 10 NRY genes were found, and the following order was established: Ypter-(AMELY-EIF2S3Y/ZFY-USP9Y-DBY/UTY)-(TSPY-SMCY-UBE1Y-SRY)-CEN. '), ('1478', 'BCR_ABL1', '', 'BCR', 'ABL1', '24053143', '22', '', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'While FISH with commercial BCR-ABL1 probes failed to detect any ABL1 changes, the ETV6 break-apart probe conclusively identified the ETV6-ABL1 fusion thus determining the probe\'s role as the primary diagnostic FISH test for this chimeric oncogene. '), ('1479', 'EML4_ALK', '', 'EML4', 'ALK', '23979196', '22', 'non small cell lung cancer;lung cancer\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'EML4-ALK demonstrates constitutive kinase activity. '), ('1480', 'VCFS_DGS', '', 'VCFS', 'DGS', '18033723', '22', 'velocardiofacial syndrome\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'In addition to detection of the common recurrent deletions associated with DGS/VCFS, variant and novel chromosome 22 aberrations have been detected. '), ('1481', 'FGFR1_CEP110', '', 'FGFR1', 'CEP110', '26418991', '22', 'leukemia\r\r', 'FISH ', 'Kinase', '', '', '', '', '', '', ' OBJECTIVE To explore the clinical and laboratory features of a patient with 8p11 myeloproliferative syndrome (EMS) and CEP110-FGFR1 fusion.     ///    [8p11 myeloproliferative syndrome with CEP110-FGFR1 fusion in a patient]..     ///    CONCLUSION EMS with CEP110-FGFR1 fusion is a very rare and distinct myeloproliferative neoplasm. '), ('1482', 'SCYA7_NF1', 't(1;17) / p36.13;q11.2 / t(1;17)(p36;q12-q21) / ', 'SCYA7', 'NF1', '7700633', '22', 'neuroblastoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Establishment of somatic cell hybrids and identification of PND/A12M2 on chromosome 1 and NF1/SCYA7 on chromosome 17 as breakpoint flanking single copy markers.. '), ('1483', 'ETV6_ABL1', '', 'ETV6', 'ABL1', '15676152', '22', 'leukemia\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The ETV6/ABL fusion was confirmed by RT-PCR, which showed that the first 5 exons of ETV6 were fused in frame with ABL at exon 2. '), ('1484', 'BOS3_BOR', '', 'BOS3', 'BOR', '18666230', '22', 'oculoauriculovertebral spectrum', 'FISH', '', '', '', '', '', '', '', 'Interestingly, mutations in SIX1 have been reported in patients with BOR/BOS3. '), ('1485', 'UTY_TSPY', '', 'UTY', 'TSPY', '12420137', '22', '', 'FISH', '', '', '', '', '', '', '', 'For the porcine Y Chr, two linkage groups of 10 NRY genes were found, and the following order was established: Ypter-(AMELY-EIF2S3Y/ZFY-USP9Y-DBY/UTY)-(TSPY-SMCY-UBE1Y-SRY)-CEN. '), ('1486', 'AE3_AE1', '', 'AE3', 'AE1', '20204716', '22', 'endometrioid adenocarcinoma', 'FISH', '', '', '', '', '', '', '', 'and 1/4 tumors had focal dot-like cytoplasmic positivity for cytokeratin AE1/AE3. '), ('1487', 'RET_PTC', '', 'RET', 'PTC', '18408749', '22', '', 'FISH', 'Kinase', 'Oncogene', '', '', '', '', '', 'There are additional alterations in RET/PTC-positive tumours, which may act as modifiers of RET activation.     ///    \"In contrast, alterations in RET/PTC-negative tumours indicate alternative routes of tumour development. \"    ///    \"In addition, childhood and adult RET/PTC-positive cases differ significantly for a deletion on the distal part of chromosome 1p. \"    ///    \"Specific aberration signatures were identified that discriminated between RET/PTC-positive and RET/PTC-negative cases (aberrations on chromosomes 1p, 3q, 4p, 7p, 9p/q, 10q, 12q, 13q and 21q). \"    ///    Deletions were found more frequently in RET/PTC-positive and RET/PTC-negative tumours than amplifications.     ///    Array CGH demonstrates characteristic aberration signatures in human papillary thyroid carcinomas governed by RET/PTC..     ///    \"We applied array-based comparative genomic hybridization (array CGH) to 33 PTC (20 PTC from adults, 13 post-Chernobyl PTC from children) with known RET/PTC status. \"'), ('1488', 'PLAG1_HAS2', '', 'PLAG1', 'HAS2', '26701195', '22', 'lipoblastoma;pleomorphic adenoma', 'FISH', '', '', '', '', '', '', '', 'Undifferentiated myxoid lipoblastoma with PLAG1-HAS2 fusion in an infant. '), ('1489', 'MUTYH_APC', '', 'MUTYH', 'APC', '18487285', '22', 'familial adenomatous polyposis\r\r', 'FISH;PCR', '', '', 'Tumor_suppressor', '', '', '', '', ' approximately 20% of classic familial adenomatous polyposis (FAP) cases and 70% to 80% of attenuated FAP (AFAP) cases are negative for the APC/MUTYH point mutation.     ///    we set up and validated APC-gene QMPSF using 23 negative and 1 positive control and examined 45 (13 FAP and 32 AFAP) unrelated members of APC/MUTYH mutation-negative families for copy number alterations.     ///    We used QMPSF for the APC gene to screen FAP APC/MUTYH mutation-negative families to improve their diagnostic surveillance. '), ('1490', 'SDC4_ROS1', '', 'SDC4', 'ROS1', '25567305', '22', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Among these positive cases, 15 were CD74-ROS1, 13 were SLC34A2-ROS1, 13 were SDC4-ROS1 and 12 were TPM3-ROS1. '), ('1491', 'MDM2_CCND1', '', 'MDM2', 'CCND1', '15864317', '22', 'gastrointestinal cancer', 'FISH ', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Identification of MDM2/CCND1 amplification may represent another molecular feature that could help in the evaluation of the behavior of GISTs.. '), ('1492', 'OR51E2_ETV1', '', 'OR51E2', 'ETV1', '23814484', '22', 'prostate cancer\r\r', 'FISH ', '', '', '', 'Receptor', '', '', '', 'We identified and confirmed by fluorescent in situ hybridization (FISH) and reverse transcription-polymerase chain reaction the two novel chimeric genes OR51E2-ETV1 and UBTF-ETV4 in two PCas. '), ('1493', 'SLC34A2_ROS1', '', 'SLC34A2', 'ROS1', '25567305', '22', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Among these positive cases, 15 were CD74-ROS1, 13 were SLC34A2-ROS1, 13 were SDC4-ROS1 and 12 were TPM3-ROS1. '), ('1494', 'TMPRSS2_ETV1', '', 'TMPRSS2', 'ETV1', '17334343', '22', 'prostate cancer', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'Overall, 54 and 2% of cases demonstrated TMPRSS2:ERG and TMPRSS2:ETV1 fusions, respectively. '), ('1495', 'MET_ALK', '', 'MET', 'ALK', '21062932', '22', 'lung cancer;adenocarcinoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'The clinical activity of ALK/MET inhibitors in ALK-positive patients probably reflects ALK, but not MET, activity. '), ('1496', 'EML4_ALK', '', 'EML4', 'ALK', '26678488', '22', 'colorectal cancer;gastric cancer;lung cancer;esophageal cancer\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'By qRT-PCR, EML4-ALK fusion was found in one IHC-positive CRC case. '), ('1497', 'EWSR1_CCS', '', 'EWSR1', 'CCS', '22045652', '22', 'clear cell sarcoma', 'FISH ', '', '', '', '', '', '', '', 'Analysis of frozen and fixed material from 21 CCS and 21 MM showed the presence of the V600E BRAF mutation in 2/12 EWSR1+ and 3/9 EWSR1- CCS and 9/21 MM and demonstrated a significant (P < 0.001) correlation between the gain of chromosomes 22 and 8 and EWSR1- CCS.     ///    Our results show that BRAF mutation can also be present in CCS and support the proposed aberration of chromosomes 22 and 8 as a possibly useful nonrandom hallmark of EWSR1- CCS. '), ('1498', 'MAML3_BCOR', '', 'MAML3', 'BCOR', '26752546', '22', 'synovial sarcoma;ewing sarcoma;sarcoma\r\r', 'FISH ', '', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Indeed, 8/75 (11%) SBRCTs showed distinct BCOR gene rearrangements, with 2 cases each showing either a BCOR-MAML3 or the alternative ZC3H7B-BCOR fusion, whereas no fusion partner was detected in the remaining 4 cases.     ///    \"Applying paired-end RNA sequencing to an SBRCT index case of a 44-year-old man, we identified a novel BCOR-MAML3 chimeric fusion, which was validated by reverse transcription polymerase chain reaction and fluorescence in situ hybridization techniques. \"'), ('1499', 'KRAS_EGFR', '', 'KRAS', 'EGFR', '21062932', '22', 'lung cancer;adenocarcinoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'All positive cases were adenocarcinomas, 12 were EGFR/KRAS wild-type, and 1 had a coexistent EGFR exon 20 mutation.     ///    \"Prescreening by histology, EGFR/KRAS mutations, and smoking status dramatically increases the ALK-positive hit rate compared with unselected series.. \"'), ('1500', 'EML4_ALK', '', 'EML4', 'ALK', '22153831', '22', 'lung cancer;adenocarcinoma\r\r', 'FISH;PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' EML4-ALK adenocarcinomas constitute a new molecular subgroup of lung tumours that respond very well to crizotinib, an ALK inhibitor. '), ('1501', 'AE3_AE1', '', 'AE3', 'AE1', '24619014', '22', '', 'FISH ', '', '', '', '', '', '', '', 'Immunohistochemically, strong and diffuse reactivity for AE1/AE3, CK5/6, and p63 was observed. '), ('1502', 'ZFP36_FOSB', '', 'ZFP36', 'FOSB', '25043949', '22', 'hemangioendothelioma', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', '', '', 'A ZFP36-FOSB fusion was detected in one case, while a WWTR1-FOSB chimeric transcript in the other, both were further validated by fluorescence in situ hybridization (FISH) and reverse transcription polymerase chain reaction (RT-PCR).     ///    ZFP36-FOSB fusion defines a subset of epithelioid hemangioma with atypical features.. '), ('1503', 'BP4_BP2', '', 'BP4', 'BP2', '25339188', '22', 'hypertelorism', 'FISH ', '', '', '', '', '', '', '', 'Array comparative genomic hybridization (CGH) analysis identified a heterozygous duplication of 1.1?Mb at 15q11.2 (between low-copy repeats BP1 and BP2), and a heterozygous triplication of 6.8?Mb at 15q11.2-q13.1 (BP2-BP4). '), ('1504', 'AE3_AE1', '', 'AE3', 'AE1', '25693574', '22', 'epithelioid sarcoma', 'FISH ', '', '', '', '', '', '', '', 'Immunohistochemistry showed positivity for CK (AE1/AE3), EMA, S100, vimentin, CD99, and SMA. '), ('1505', 'IGH_IRF4', 't(6;14)(p25;q32) / t(6;14)  / ', 'IGH', 'IRF4', '10557056', '21', 'multiple myeloma\r\r', 'FISH ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Detection of MUM1/IRF4-IgH fusion in multiple myeloma.. '), ('1506', 'PTC_RET', '', 'PTC', 'RET', '16772343', '21', 'papillary carcinoma\r\r', 'FISH;PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC rearrangements were detected by standard-sensitivity RT-PCR in 14 tumors.     ///    Prevalence of RET/PTC rearrangements in thyroid papillary carcinomas: effects of the detection methods and genetic heterogeneity.     ///    Our data suggest that broad variability in the reported prevalence of RET/PTC rearrangement is at least in part a result of the use of different detection methods and tumor genetic heterogeneity..     ///     RET/PTC rearrangements have been reported in papillary thyroid carcinomas with variable frequency in studies that used different detection methods.     ///    Prevalence of RET/PTC rearrangements in thyroid papillary carcinomas: effects of the detection methods and genetic heterogeneity..     ///    Twelve (18%) tumors had nonclonal RET/PTC that were detected only by high-sensitivity RT-PCR.     ///    Our objective was to determine the role of different detection methods and tumor genetic heterogeneity on RET/PTC detection.     ///    \"High-sensitivity RT-PCR detected RET/PTC in all of these and in 12 additional cases, where the levels of expression corresponded to one to five positive cells. \"    ///    \"No other mutations were found in tumors harboring clonal RET/PTC, whereas 60% of tumors with subclonal and 42% of tumors with nonclonal RET/PTC harbored additional mutations. \"    ///    Real-time LightCycler RT-PCR detected RET/PTC in 12 and Southern blot analysis in 11 tumors.     ///    \"Sixty-five papillary carcinomas were analyzed for RET/PTC1 and RET/PTC3 using five detection methods: standard-sensitivity RT-PCR, high-sensitivity RT-PCR, real-time LightCycler RT-PCR, Southern blot analysis, and fluorescence in situ hybridization. \"'), ('1507', 'RET_PTC3', '', 'RET', 'PTC3', '22895275', '21', 'thyroid carcinoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'Simultaneous occurrence of PAX8-PPARg and RET-PTC3 rearrangements in a follicular variant of papillary thyroid carcinoma..     ///    \"In fact, submicroscopic chromosome rearrangements producing RET-PTC3 and PAX8-PPARg chimeric genes were found by interphase fluorescence in situ hybridization. \"'), ('1508', 'MLLT3_MLL', 't(5;11)(q31;q23) / ', 'MLLT3', 'MLL', '15382263', '21', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR ', '', 'Oncogene', '', '', '', '', 'Seq', 'Some of these chimeras are rather common, such as MLL/MLLT3(AF9), but many are quite rare, with some, for example, MLL/GRAF, described only in a single case. '), ('1509', 'EML4_ALK', '', 'EML4', 'ALK', '26391021', '21', 'squamous cell carcinoma;lung cancer;adenocarcinoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'No discrepancies in EML4-ALK rearrangements existed according to fluorescence in situ hybridization.     ///    Rare ITHs of EGFR/KRAS/EML4-ALK alterations within histologically heterogeneous primary lung adenocarcinomas existed by methods with higher sensitivity.    ///    \"Driver genes, epidermal growth factor receptor (EGFR), KRAS and EML4-ALK, were assessed by assays with different sensitivities. \"    ///    EML4-ALK=4) were enrolled. ');
INSERT INTO `ChimerPub_dump` VALUES ('1510', 'MLL_FBP17', 'inv(11)(q13q23) / ', 'MLL', 'FBP17', '11438682', '21', 'leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'The rearrangement resulted in a 5\'-MLL/FBP17-3\' fusion mRNA.     ///    \"In contrast to MLL/ENL, MLL/ELL and other MLL-fusion genes, MLL/FBP17 did not give a positive readout in a serial replating assay. \"    ///    We retrovirally transduced murine-myeloid progenitor cells with MLL/FBP17 to test its transforming ability. '), ('1511', 'STAT6_NAB2', '', 'STAT6', 'NAB2', '24457460', '21', 'liposarcoma;solitary fibrous tumor;sarcoma\r\r', 'FISH', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' A recurrent intrachromosomal rearrangement on chromosome 12q in solitary fibrous tumor leads to the formation of a NAB2-STAT6 fusion oncogene. '), ('1512', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23352841', '21', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', ' Since the identification of the TMPRSS2-ERG rearrangement as the most common fusion event in prostate cancer, various methods have been developed to detect this rearrangement and to study its prognostic significance. '), ('1513', 'FUS_CREB3L2', '', 'FUS', 'CREB3L2', '25231134', '21', 'fibrosarcoma;sarcoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'These results further demarcate a relative cytogenetic dichotomy between pure SEF, often characterized by EWSR1 rearrangements, and hybrid SEF/LGFMS, harboring FUS-CREB3L2 fusion.     ///    \"In contrast, recent studies pointed out that SEF harbor frequent EWSR1 rearrangements, with only a minority of cases showing FUS-CREB3L2 fusions. \"    ///    \"While the majority of LGFMS cases are characterized by a FUS-CREB3L1 fusion, both FUS-CREB3L2 and EWSR1-CREB3L1 fusions were recently demonstrated in a small number of LGFMS and SEF/LGFMS hybrid tumors. \"'), ('1514', 'RET_PTC', '', 'RET', 'PTC', '23966419', '21', 'thyroid adenoma', 'FISH;PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC rearrangements are the most frequent genetic alterations associated with radiation-induced PTC, whereas BRAF and RAS mutations and PAX8-PPARG rearrangement have been associated with sporadic PTC.     ///    The prevalence of RET/PTC1 rearrangement fits with the values recently described in a similar setting..     ///    The lesions were screened for the BRAF(V600E) and NRAS mutations and for RET/PTC and PAX8-PPARG rearrangements.     ///    \"RET/PTC1 rearrangement was found, by RT-PCR, in one of 17 cases (5.9%) and by fluorescence in situ hybridization in two of six cases (33%). \"'), ('1515', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '15995325', '21', 'myeloproliferative disorder;chronic myeloid leukemia;myeloid leukemia;leukemia;hypereosinophilic s\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Fip1-like-1-platelet-derived growth factor receptor alpha (FIP1L1-PDGFRA(+)) systemic mastocytosis, platelet-derived growth factor receptor beta (PDGFRB)-rearranged atypical myeloproliferative disorder, chronic myeloid leukemia, and the 8p11 syndrome that is associated with fibroblast growth factor receptor 1 (FGFR1) rearrangement. '), ('1516', 'RARA_PML', '', 'RARA', 'PML', '21422114', '21', 'acute myeloid leukemia;myeloid leukemia;leukemia;hematologic malignancy\r\r', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'P=0.001), PML-RARA rearrangements (11/83, 13.3% versus 4/203, 2.0%. '), ('1517', 'EWSR1_CHOP', '', 'EWSR1', 'CHOP', '19194281', '21', 'liposarcoma', 'FISH ', '', '', '', '', '', '', '', 'FUS-CHOP and EWSR1-CHOP rearrangements were identified by fluorescence in situ hybridization in 15/23 and 2/23 conventional myxoid liposarcomas, respectively, and in no other tumors. '), ('1518', 'TEL_AML1', '', 'TEL', 'AML1', '15877734', '21', 'T ALL\r\r', 'FISH ', '', '', '', '', '', '', '', 'The fusions, TEL/AML1 and BCR/ABL, and rearrangements of the MLL gene occurred at frequencies of 22% (n = 447/2027) (25% in B-lineage ALL), 2% (n = 43/2027) and 2% (n = 47/2016) respectively.     ///    \"The TEL/AML1 probe showed the highest incidence of variation (59%, n = 524/884), which included 38 (2%) patients with clustered, multiple copies of AML1. \"'), ('1519', 'P21_P11', '', 'P21', 'P11', '11005144', '21', '', 'FISH ', '', '', '', '', '', '', '', 'The karyotype was 46, X dup(X)(p11-p21.2). '), ('1520', 'P63_P40', '', 'P63', 'P40', '25189640', '21', 'peripheral T cell lymphoma', 'FISH', '', '', '', '', '', '', '', 'As a subset of lung adenocarcinomas are p63+/p40-, we undertook the current study to examine the presence of TP63 rearrangements and correlate with p63/p40 expression. '), ('1521', 'PBX1_EWSR1', '', 'PBX1', 'EWSR1', '26645726', '21', 'myoepithelial tumor', 'FISH ', '', '', '', '', 'Transcription_Factor', '', '', 'Gene rearrangements were identified in half of the cases, with EWSR1-PBX1, EWSR1-ZNF444, and FUS-KLF17 fusions identified in 1 case each and 1 case having EWSR1 rearrangement with no partner identified. '), ('1522', 'MOZ_CBP', 't(8;16)(p11;p13) / ', 'MOZ', 'CBP', '15085163', '21', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'only three studies have described successful amplification of the chimeric MOZ-CBP and CBP-MOZ fusions by reverse transcriptase-polymerase chain reaction (RT-PCR). '), ('1523', 'RET_KIF5B', '', 'RET', 'KIF5B', '25982012', '21', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', '', '', 'Systemic and CNS activity of the RET inhibitor vandetanib combined with the mTOR inhibitor everolimus in KIF5B-RET re-arranged non-small cell lung cancer with brain metastases.. '), ('1524', 'NOS_CEL', '', 'NOS', 'CEL', '23114151', '21', 'leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Clonal cytogenetic abnormalities were detected in 1 case of CEL-NOS and 3 cases with PDGFRB rearrangement.     ///    \"The diagnosis in (17%) of 6 patients with CEL was revised as chronic eosinophilic leukemia, not otherwise as specified (CEL-NOS). \"'), ('1525', 'BCR_ABL1', '', 'BCR', 'ABL1', '9087564', '21', '', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We established two different criteria for BCR-ABL positivity: by criterion A cells were scored as positive when BCR and ABL signals were overlapping or touching and by criterion B cells were positive if they satisfied criterion A or if the signals were separated by up to one signal diameter. '), ('1526', 'FGFR1_BCR', 't(8;22)  / t(8;22) (p12;q11) / ', 'FGFR1', 'BCR', '15870860', '21', 'myeloproliferative disorder;chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The rearrangement resulted in the production of BCR-FGFR1 and FGFR1-BCR chimeric transcripts after in-frame fusions of BCR exon 4 with FGFR1 exon 9 and FGFR1 exon 8 with BCR exon 5, respectively. '), ('1527', 'KLF17_FUS', '', 'KLF17', 'FUS', '25706482', '21', 'myoepithelial tumor\r\r', 'FISH;PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Three additional cases with FUS-KLF17 fusions were identified and one KLF17 rearrangement (6.3%) was found among the 16 EWSR1-positive cases tested.     ///    Novel FUS-KLF17 and EWSR1-KLF17 fusions in myoepithelial tumors..     ///    A novel FUS-KLF17 fusion was identified by 3\'-RACE in an 11-year-old girl with a foot lesion associated with locoregional metastases. '), ('1528', 'ZNF444_EWSR1', '', 'ZNF444', 'EWSR1', '26645726', '21', 'myoepithelial tumor', 'FISH ', '', '', '', '', '', '', '', 'Gene rearrangements were identified in half of the cases, with EWSR1-PBX1, EWSR1-ZNF444, and FUS-KLF17 fusions identified in 1 case each and 1 case having EWSR1 rearrangement with no partner identified. '), ('1529', 'RET_PTC1', '', 'RET', 'PTC1', '11021799', '21', '', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'The RET/PTC1 type of rearrangement is an inversion of chromosome 10 mediated by illegitimate recombination between the RET and the H4 genes, which are 30 megabases apart.     ///    Spatial contiguity of RET and H4 may provide a structural basis for generation of RET/PTC1 rearrangement by allowing a single radiation track to produce a double-strand break in each gene at the same site in the nucleus.. '), ('1530', 'ETV6_ABL1', '', 'ETV6', 'ABL1', '25368826', '21', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'A cryptic ETV6/ABL1 rearrangement represents a unique fluorescence in situ hybridization signal pattern in a patient with B acute lymphoblastic leukemia.. '), ('1531', 'AMY2B_AMY2A', '', 'AMY2B', 'AMY2A', '25788522', '21', '', 'FISH', '', '', '', '', '', '', '', 'In contrast, haplotypes carrying an even number of AMY1 genes have rearrangements leading to CNVs of AMY2A/AMY2B. '), ('1532', 'RET_PTC', '', 'RET', 'PTC', '18974143', '21', 'thyloid cancer;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'The high prevalence of RET/PTC rearrangements in patients who have received external radiation, and the evidence of in vitro induction of RET rearrangements in human cells, suggest an enhanced sensitivity of the RET genomic region to damage by ionizing radiation. '), ('1533', 'RET_PTC', '', 'RET', 'PTC', '22136268', '21', 'thyloid cancer\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'The aim of this study was to test whether the proximity effects that are observed between loci involved in RET/PTC rearrangements in humans are conserved across different species.     ///    \"Using 3D fixation, fluorescence in situ hybridization, and confocal microscopy, we compared the distance between genes involved in RET/PTC rearrangement in normal thyroid cells from humans, mice, and rats. \"    ///    The differences in nuclear architecture and spatial positioning of genes involved in RET/PTC rearrangements between human and rodent thyroid cells raise a concern about suitability of animal models for assessing RET/PTC-driven thyroid carcinogenesis in humans..     ///    \"Recently, nuclear architecture and spatial proximity between recombinogenic genes have been implicated as important factors in the generation of RET/PTC and other chromosomal rearrangements in human cells. \"    ///    RET/PTC is a characteristic genetic alteration frequently found in radiation-induced thyroid cancer in human populations.     ///    \"We further observed that in human thyroid cells, mean distance between genes involved in two most common types of RET/PTC, that is, RET and NCOA4 (partners of RET/PTC3) and RET and H4 (partners of RET/PTC1), was 1.08??0.04 and 1.24??0.05??m, respectively. \"'), ('1534', 'PRDM10_MED12', '', 'PRDM10', 'MED12', '25516889', '21', 'sarcoma\r\r', 'FISH;PCR', '', '', '', '', 'Transcription_Factor', '', '', 'Further screening of 82 soft tissue sarcomas for rearrangements of the PRDM10 locus revealed one more UPS with a MED12/PRDM10 fusion. '), ('1535', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '24669761', '21', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The FIP1L1-PDGFRA rearrangement results in constitutive activation of the tyrosine kinase PDGFRA.     ///    The presence of a dominant neoplastic clone with FIP1L1-PDGFRA rearrangement was suspected on the basis of sudden onset of peripheral and bone marrow eosinophilia and confirmed by fluorescence in situ hybridization and molecular diagnostic tests.     ///    Discovery of imatinib-responsive FIP1L1-PDGFRA mutation during refractory acute myeloid leukemia transformation of chronic myelomonocytic leukemia..     ///    \"Herein, we present a case report of a patient in whom the FIP1L1-PDGFRA was discovered as he evolved from CMML to acute myeloid leukemia (AML). \"    ///    Only a single report has described the identification of FIP1L1-PDGFRA in chronic myelomonocytic leukemia (CMML). '), ('1536', 'MUM1_IRF4', 't(6;14)(p25;q32) / t(6;14)  / ', 'MUM1', 'IRF4', '10557056', '21', 'multiple myeloma\r\r', 'FISH ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Detection of MUM1/IRF4-IgH fusion in multiple myeloma.. '), ('1537', 'KLF17_FUS', '', 'KLF17', 'FUS', '26645726', '21', 'myoepithelial tumor', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Gene rearrangements were identified in half of the cases, with EWSR1-PBX1, EWSR1-ZNF444, and FUS-KLF17 fusions identified in 1 case each and 1 case having EWSR1 rearrangement with no partner identified. '), ('1538', 'BCR_ABL1', '', 'BCR', 'ABL1', '23996872', '21', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' We describe a rare presentation of acute lymphoblastic leukemia in a young adult male who at the beginning of the disease lacked the Philadelphia chromosome in bone marrow and blood cells and fluorescence in situ hybridization was negative for the presence of a clone with the BCR-ABL1 rearrangement.     ///    \"Late-appearing Philadelphia chromosome, adolescent ALL, BCR-ABL1, dasarinib.. \"'), ('1539', 'FUS_CHOP', '', 'FUS', 'CHOP', '19194281', '21', 'liposarcoma', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'FUS-CHOP and EWSR1-CHOP rearrangements were identified by fluorescence in situ hybridization in 15/23 and 2/23 conventional myxoid liposarcomas, respectively, and in no other tumors. '), ('1540', 'RET_PTC', '', 'RET', 'PTC', '16331264', '21', 'thyloid cancer\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'In this study, we use an 18 Mb region on 10q11.2-21 containing the RET gene and its recombination partners, the H4 and NCOA4 (ELE1) genes, as a model chromosomal region frequently involved in RET/PTC rearrangements in thyroid cancer.     ///    Interphase chromosome folding determines spatial proximity of genes participating in carcinogenic RET/PTC rearrangements..     ///    RET/PTC is particularly common in tumors from children exposed to ionizing radiation. '), ('1541', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '23966419', '21', 'thyroid adenoma', 'FISH;PCR;RT-PCR', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'RET/PTC rearrangements are the most frequent genetic alterations associated with radiation-induced PTC, whereas BRAF and RAS mutations and PAX8-PPARG rearrangement have been associated with sporadic PTC.     ///    PAX8-PPARG rearrangement was not detected in any carcinoma.     ///    The lesions were screened for the BRAF(V600E) and NRAS mutations and for RET/PTC and PAX8-PPARG rearrangements. '), ('1542', 'EML4_ALK', '', 'EML4', 'ALK', '21107285', '20', 'non small cell lung cancer;non small cell lung cancer;lung cancer;adenocarcinoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'There were two cases of EML4-ALK translocation and one with an atypical translocation of ALK.    ///    \"In conclusion, EML4-ALK translocation is a rare event in NSCLC. \"    ///    \"Both cases of EML4-ALK translocation had ALK protein expression, whereas in the rest, ALK was undetected. \"'), ('1543', 'NTRK3_ETV6', '', 'NTRK3', 'ETV6', '23483204', '20', 'acinic cell carcinoma;adenocarcinoma;salivary gland cancer\r\r', 'FISH ', 'Kinase', '', '', '', '', 'KB', 'Seq', ' A new tumor entity of the salivary glands, mammary analogue secretory carcinoma (MASC) with ETV6-NTRK3 translocation, has recently been proposed. '), ('1544', 'TEL_AML1', '', 'TEL', 'AML1', '11745869', '20', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Eight out of the 9 children with loss at 12p harbored the TEL-AML1 translocation and all 9 had the deletion of a nontranslocated TEL allele.     ///    DNA copy number losses detected at 12p associate with TEL-AML1 fusion as well as with favorable prognostic features..     ///    Loss at 12p detected by comparative genomic hybridization (CGH): association with TEL-AML1 fusion and favorable prognostic features in childhood acute lymphoblastic leukemia (ALL). '), ('1545', 'TAL1_SIL', '', 'TAL1', 'SIL', '23210573', '20', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR', '', '', '', '', 'Transcription_Factor', '', '', 'BCR-ABL1, FUS-ERG, MLL-AF4, ETV6-RUNX1, E2A-PBX1, dupMLL, MLL-AF10, MLL-ENL, SET-NUP214 and SIL-TAL1 were detected in 36 (14.06%), 14 (5.47%), 14 (5.47%), four (1.56%), four (1.56%), five (1.95%), four (1.56%), two (0.78%), two (0.78%) and five patients (1.95%), respectively. '), ('1546', 'BCR_ABL1', '', 'BCR', 'ABL1', '23210573', '20', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'JAK2 and IKZF1 mutations were commonly detected in patients with BCR-ABL1 ALL, and HOX overexpression was highly correlated with MLL fusions and SET-NUP214.     ///    \"BCR-ABL1, FUS-ERG, MLL-AF4, ETV6-RUNX1, E2A-PBX1, dupMLL, MLL-AF10, MLL-ENL, SET-NUP214 and SIL-TAL1 were detected in 36 (14.06%), 14 (5.47%), 14 (5.47%), four (1.56%), four (1.56%), five (1.95%), four (1.56%), two (0.78%), two (0.78%) and five patients (1.95%), respectively. \"'), ('1547', 'IGH_BCL6', '', 'IGH', 'BCL6', '11520558', '20', 'B cell lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', '', '', '', 'Six of the nine patients with add(14)(q32) showed a BCL6/IGH translocation. '), ('1548', 'ALL1_AF10', '', 'ALL1', 'AF10', '9844603', '20', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'In this context, we report the first description of an infant acute lymphoblastic leukemia with an interstitial insertion of the AF10 gene into the 11q23 band, resulting in the transcription of the ALL1/AF10 fusion product.     ///    \"Acute leukemias with the ALL1/AF10 chimeric gene frequently show heterogeneity in the breakpoints on 10p, as well as complex insertion (10;11) as a result of complex molecular mechanisms leading to the ALL1/AF10 fusion. \"'), ('1549', 'SET_NUP214', '', 'SET', 'NUP214', '23210573', '20', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR', '', '', '', '', '', 'KB', '', 'BCR-ABL1, FUS-ERG, MLL-AF4, ETV6-RUNX1, E2A-PBX1, dupMLL, MLL-AF10, MLL-ENL, SET-NUP214 and SIL-TAL1 were detected in 36 (14.06%), 14 (5.47%), 14 (5.47%), four (1.56%), four (1.56%), five (1.95%), four (1.56%), two (0.78%), two (0.78%) and five patients (1.95%), respectively.     ///    \"JAK2 and IKZF1 mutations were commonly detected in patients with BCR-ABL1 ALL, and HOX overexpression was highly correlated with MLL fusions and SET-NUP214. \"'), ('1550', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '23210573', '20', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'BCR-ABL1, FUS-ERG, MLL-AF4, ETV6-RUNX1, E2A-PBX1, dupMLL, MLL-AF10, MLL-ENL, SET-NUP214 and SIL-TAL1 were detected in 36 (14.06%), 14 (5.47%), 14 (5.47%), four (1.56%), four (1.56%), five (1.95%), four (1.56%), two (0.78%), two (0.78%) and five patients (1.95%), respectively. '), ('1551', 'MLL_ENL', '', 'MLL', 'ENL', '23210573', '20', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'BCR-ABL1, FUS-ERG, MLL-AF4, ETV6-RUNX1, E2A-PBX1, dupMLL, MLL-AF10, MLL-ENL, SET-NUP214 and SIL-TAL1 were detected in 36 (14.06%), 14 (5.47%), 14 (5.47%), four (1.56%), four (1.56%), five (1.95%), four (1.56%), two (0.78%), two (0.78%) and five patients (1.95%), respectively. '), ('1552', 'MUM1_IRF4', '', 'MUM1', 'IRF4', '25687653', '20', 'non Hodgkin lymphoma;B cell lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Paraffin-embedded samples from 112 patients with de novo DLBCL, enrolled in the R-MegaCHOEP trial of the German High Grade Non-Hodgkin Lymphoma Study Group (DSHNHL) were investigated using immunohistochemistry (MYC, FOXP1, LMO2, GCET1, CD5, CD10, BCL2, BCL6, IRF4/MUM1) and fluorescence in situ hybridization (MYC, BCL2, BCL6). '), ('1553', 'RET_PTC', '', 'RET', 'PTC', '19147513', '20', '', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'A total of 57 nonthyroid papillary tumors were examined for RET/PTC rearrangements using interphase fluorescence in situ hybridization, Taqman reverse transcriptase polymerase chain reaction, and immunohistochemistry.     ///    No RET/PTC1 rearrangements were detected in the remaining tumor cohort.     ///    A further case of similar histotype had an alternate RET/ PTC rearrangement.     ///    The results indicate that RET/PTC rearrangements occur in a small subset of nonthyroid papillary tumors.     ///    RET/PTC rearrangement occurring in primary peritoneal carcinoma..     ///     RET/PTC rearrangements are initiating events in the development of a significant proportion of papillary thyroid carcinomas.     ///    \"In all, 20% (3/15) of primary peritoneal carcinoma had detectable RET/PTC1 rearrangements by all 3 methodologies. \"    ///    \"Activated RET/PTC mutations are thought to be restricted to thyroid disease, but this study proposes that these events may also occur in nonthyroid tumors. \"'), ('1554', 'MYC_IGL', '', 'MYC', 'IGL', '26373676', '20', 'B cell lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'A total of 774 DLBCL cases characterized for cell of origin by the Hans classifier were analyzed using fluorescence in situ hybridization with BCL2, BCL6, MYC, immunoglobulin (IG)K, and IGL break-apart and IGH/MYC, IGK/MYC, and IGL/MYC fusion probes. '), ('1555', 'MYC_BCL2', '', 'MYC', 'BCL2', '24118498', '20', 'B cell lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'MYC translocation partner gene determines survival of patients with large B-cell lymphoma with MYC- or double-hit MYC/BCL2 translocations..     ///     In large B-cell lymphoma (LBCL) MYC- and MYC/BCL2 double-hit (DH) translocations have been associated with inferior survival. '), ('1556', 'FUS_ERG', '', 'FUS', 'ERG', '23210573', '20', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'BCR-ABL1, FUS-ERG, MLL-AF4, ETV6-RUNX1, E2A-PBX1, dupMLL, MLL-AF10, MLL-ENL, SET-NUP214 and SIL-TAL1 were detected in 36 (14.06%), 14 (5.47%), 14 (5.47%), four (1.56%), four (1.56%), five (1.95%), four (1.56%), two (0.78%), two (0.78%) and five patients (1.95%), respectively. '), ('1557', 'NTRK3_ETV6', '', 'NTRK3', 'ETV6', '25976476', '20', 'acinic cell carcinoma\r\r', 'FISH ', 'Kinase', '', '', '', '', 'KB', 'Seq', ' Mammary analogue secretory carcinoma (MASC) has a specific ETV6-NTRK3 translocation and morphologically overlaps with acinic cell carcinoma (AciCC). '), ('1558', 'TAF15_NR4A3', '', 'TAF15', 'NR4A3', '24703573', '20', 'chondrosarcoma;sarcoma\r\r', 'FISH ', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Interestingly, all responsive cases turned out to express the typical EWSR1-NR4A3 fusion, while refractory cases carried the alternative TAF15-NR4A3 fusion. '), ('1559', 'PPAR_PAX8', '', 'PPAR', 'PAX8', '23100233', '20', 'thyroid cancer\r\r', 'FISH ', '', '', '', 'Receptor', '', '', '', 'FISH analysis using PPAR ?-specific probes for detection of PAX8-PPAR ? translocation in follicular thyroid neoplasms.. '), ('1560', 'MLL_AF10', '', 'MLL', 'AF10', '23210573', '20', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'BCR-ABL1, FUS-ERG, MLL-AF4, ETV6-RUNX1, E2A-PBX1, dupMLL, MLL-AF10, MLL-ENL, SET-NUP214 and SIL-TAL1 were detected in 36 (14.06%), 14 (5.47%), 14 (5.47%), four (1.56%), four (1.56%), five (1.95%), four (1.56%), two (0.78%), two (0.78%) and five patients (1.95%), respectively. '), ('1561', 'NR4A3_EWSR1', '', 'NR4A3', 'EWSR1', '24703573', '20', 'chondrosarcoma;sarcoma\r\r', 'FISH ', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', '', 'Interestingly, all responsive cases turned out to express the typical EWSR1-NR4A3 fusion, while refractory cases carried the alternative TAF15-NR4A3 fusion.     ///    Genotype/phenotype analyses support a correlation between response and EWSR1-NR4A3 fusion. '), ('1562', 'EML4_ALK', '', 'EML4', 'ALK', '26984109', '20', 'non small cell lung cancer;lung cancer\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Immunohistochemical techniques to identify and screen for EML4-ALK translocations may play an important role in the near future.     ///    Treatment options such as tyrosine kinase inhibitors directed against the EML4-ALK signalling pathway lead to improved progression free and overall survival.     ///     The EML4-ALK pathway plays an important role in a significant subset of non-small cell lung cancer patients. '), ('1563', 'MYC_BCL2', '', 'MYC', 'BCL2', '22510149', '20', 'B cell lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Screening of patients with BCLU and DLBCL of GCB type for DH BCL2/MYC translocation including MYC translocation partner gene may provide important prognostic information..     ///    Double-hit BCL2/MYC translocations in a consecutive cohort of patients with large B-cell lymphoma - a single centre\'s experience.. '), ('1564', 'SSX1_SS18', '', 'SSX1', 'SS18', '20594581', '19', 'synovial sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', 'KB', '', 'Subsequently, SS18-SSX1 and SS18-SSX2 were examined by reverse transcription polymerase chain reaction.     ///    \"Because synovial sarcoma consistently carries a specific chromosomal translocation, t(X;18), and its derivative chimeric gene, either SS18-SSX1 or SS18-SSX2, detecting these abnormalities by reverse transcription polymerase chain reaction or fluorescence in situ hybridization has been recognized as a powerful aid for diagnosis. \"    ///    \"Because synovial sarcoma consistently carries a specific chromosomal translocation, t(X;18), and its derivative chimeric gene, either SS18-SSX1 or SS18-SSX2, detecting these abnormalities by reverse transcription polymerase chain reaction or fluorescence in situ hybridization has been recognized as a powerful aid for diagnosis.\"'), ('1565', 'SSX2_SS18', '', 'SSX2', 'SS18', '20594581', '19', 'synovial sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'Subsequently, SS18-SSX1 and SS18-SSX2 were examined by reverse transcription polymerase chain reaction.     ///    \"Because synovial sarcoma consistently carries a specific chromosomal translocation, t(X;18), and its derivative chimeric gene, either SS18-SSX1 or SS18-SSX2, detecting these abnormalities by reverse transcription polymerase chain reaction or fluorescence in situ hybridization has been recognized as a powerful aid for diagnosis. \"'), ('1566', 'CLTC_ALK', 't(2;5) / ', 'CLTC', 'ALK', '15921012', '19', 'anaplastic large cell lymphoma;B cell lymphoma;lymphoma\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Genetic studies showed that the majority of ALK+DLBCL cases are characterized by the clathrin (CLTC)-ALK fusion and in a few cases the NPM-ALK rearrangement has been found.. '), ('1567', 'NPM_ALK', 't(2;5) / ', 'NPM', 'ALK', '15921012', '19', 'anaplastic large cell lymphoma;B cell lymphoma;lymphoma\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', '', '', 'Genetic studies showed that the majority of ALK+DLBCL cases are characterized by the clathrin (CLTC)-ALK fusion and in a few cases the NPM-ALK rearrangement has been found.. '), ('1568', 'SBF1_PKHD1L1', '', 'SBF1', 'PKHD1L1', '24649974', '19', 'T cell leukemia', 'FISH;PCR', '', '', '', '', '', '', '', 'Two novel fusion transcripts were identified: CASP8-ERBB4 in MOTN-1 and SBF1-PKHD1L1 in T-LGL patient. '), ('1569', 'SSX1_SS18', '', 'SSX1', 'SS18', '24061517', '19', 'synovial sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', 'KB', '', 'Ten cases carried an SS18-SSX2 fusion transcript, and 5 cases showed an SS18-SSX1 transcript by reverse transcription polymerase chain reaction. '), ('1570', 'ERBB4_CASP8', '', 'ERBB4', 'CASP8', '24649974', '19', 'T cell leukemia', 'FISH;PCR', 'Kinase', 'Oncogene', 'Tumor_suppressor', '', '', '', '', 'Two novel fusion transcripts were identified: CASP8-ERBB4 in MOTN-1 and SBF1-PKHD1L1 in T-LGL patient. '), ('1571', 'PHF1_MEAF6', 't(10;17)(q22;p13) / p11.2;q21.33 / ', 'PHF1', 'MEAF6', '23959973', '18', 'uterine neoplasm', 'FISH ', '', '', '', '', '', '', '', 'In conventional low-grade ESS, JAZF1-SUZ12, PHF1-JAZF1, EPC1-PHF1 and MEAF6-PHF1, and recently described ZC3H7-BCOR chimeric fusions have been reported in > 50% of cases. '), ('1572', 'SUZ12_JAZF1', 't(10;17)(q22;p13) / p11.2;q21.33 / ', 'SUZ12', 'JAZF1', '23959973', '18', 'uterine neoplasm', 'FISH ', '', '', '', '', '', 'KB', '', 'In conventional low-grade ESS, JAZF1-SUZ12, PHF1-JAZF1, EPC1-PHF1 and MEAF6-PHF1, and recently described ZC3H7-BCOR chimeric fusions have been reported in > 50% of cases.     ///    \"In conventional low-grade ESS, JAZF1-SUZ12, PHF1-JAZF1, EPC1-PHF1 and MEAF6-PHF1, and recently described ZC3H7-BCOR chimeric fusions have been reported in > 50% of cases.\"'), ('1573', 'PHF1_JAZF1', 't(10;17)(q22;p13) / p11.2;q21.33 / ', 'PHF1', 'JAZF1', '23959973', '18', 'uterine neoplasm', 'FISH ', '', '', '', '', '', '', '', 'In conventional low-grade ESS, JAZF1-SUZ12, PHF1-JAZF1, EPC1-PHF1 and MEAF6-PHF1, and recently described ZC3H7-BCOR chimeric fusions have been reported in > 50% of cases.     ///    \"In conventional low-grade ESS, JAZF1-SUZ12, PHF1-JAZF1, EPC1-PHF1 and MEAF6-PHF1, and recently described ZC3H7-BCOR chimeric fusions have been reported in > 50% of cases.\"'), ('1574', 'KIF5B_ALK', '', 'KIF5B', 'ALK', '21656749', '18', 'non small cell lung cancer;lung cancer\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Overexpression of KIF5B-ALK in mammalian cells led to the activation of signal transducer and activator of transcription 3 and protein kinase B and to enhanced cell proliferation, migration, and invasion.     ///    Western blot analysis of clinical tumor tissues revealed the expression of a protein whose size correlated with that of the predicted KIF5B-ALK.    ///    Western blot analysis of clinical tumor tissues revealed the expression of a protein whose size correlated with that of the predicted KIF5B-ALK.     ///    The discovery of the novel KIF5B-ALK variant further consolidated the role of aberrant ALK signaling in lung carcinogenesis..     ///    A novel KIF5B-ALK variant in nonsmall cell lung cancer.. '), ('1575', 'RET_PTC3', '', 'RET', 'PTC3', '10980597', '18', '', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Three main rearranged forms of RET have been described: RET/PTC1 and RET/PTC3, which arise from a paracentric inversion and RET/PTC2, which originates from a 10 : 17 translocation. '), ('1576', 'PHF1_EPC1', 't(10;17)(q22;p13) / p11.2;q21.33 / ', 'PHF1', 'EPC1', '23959973', '18', 'uterine neoplasm', 'FISH ', '', '', '', '', '', '', '', 'In conventional low-grade ESS, JAZF1-SUZ12, PHF1-JAZF1, EPC1-PHF1 and MEAF6-PHF1, and recently described ZC3H7-BCOR chimeric fusions have been reported in > 50% of cases. '), ('1577', 'SRGAP3_GAP', '', 'SRGAP3', 'GAP', '12195014', '18', '', 'FISH ', '', '', '', '', '', '', '', 'We describe several MEGAP/srGAP3 transcript isoforms and show that MEGAP/srGAP3a and -b represent functional GTPase-activating proteins (GAP) by an in vitro GAP assay. '), ('1578', 'HIST1H1B_HIST1H1C', '6p21.3 / ', 'HIST1H1B', 'HIST1H1C', '7989039', '18', '', 'FISH ', '', '', '', '', '', '', '', 'In a previous report, the human histone H1.1 gene and other H1 genes (H1.2-H1.5, H1t) were assigned to chromosome 6 by polymerase chain reaction analysis using human-rodent cell hybrid DNA. '), ('1579', 'RET_PTC1', '', 'RET', 'PTC1', '10980597', '18', '', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Three main rearranged forms of RET have been described: RET/PTC1 and RET/PTC3, which arise from a paracentric inversion and RET/PTC2, which originates from a 10 : 17 translocation. '), ('1580', 'BCR_ABL1', '', 'BCR', 'ABL1', '12036887', '18', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'However, loss of ABL-BCR expression also occurred without an overt deletion, suggesting the existence of other mechanisms by which ABL-BCR transcription can be abolished.     ///    \"First, we demonstrate that all derivative chromosome 9 deletions detected by fluorescence in situ hybridization were associated with an absence of ABL-BCR expression. \"    ///    \"Derivative chromosome 9 deletions in chronic myeloid leukemia: poor prognosis is not associated with loss of ABL-BCR expression, elevated BCR-ABL levels, or karyotypic instability.. \"    ///    \"Furthermore, analysis of survival in 160 patients demonstrated that loss of ABL-BCR expression, in contrast to deletion status, was not an indicator of poor prognosis. \"'), ('1581', 'RET_PTC2', '', 'RET', 'PTC2', '10980597', '18', '', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Three main rearranged forms of RET have been described: RET/PTC1 and RET/PTC3, which arise from a paracentric inversion and RET/PTC2, which originates from a 10 : 17 translocation. '), ('1582', 'EML4_ALK', '', 'EML4', 'ALK', '26295973', '18', 'sarcoma;thyroid cancer', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Our results suggest that the EML4-ALK fusion in MTC may be a potential driver mutation and a valid target of ALK inhibitors.     ///    \"Notably, a metastatic MTC case harboring the EML4-ALK fusion showed a dramatic response to an ALK inhibitor, crizotinib. \"    ///    Glutamine:fructose-6-phosphate transaminase 1 (GFPT1)-ALK and echinoderm microtubule-associated protein-like 4 (EML4)-ALK fusions were identified. '), ('1583', 'SREBP1_ADD1', '3p21.3 / ', 'SREBP1', 'ADD1', '10570913', '18', '', 'FISH ', '', '', '', '', 'Transcription_Factor', '', '', 'Sequence analysis of the 5\'-flanking region showed that it comprised a high G/C-rich region and contained adipocyte determination and differentiation-dependent factor 1 (ADD1)/SREBP-1 binding sites in addition to Sp1 and AP2 sites. '), ('1584', 'ZC3H7_BCOR', 't(10;17)(q22;p13) / p11.2;q21.33 / ', 'ZC3H7', 'BCOR', '23959973', '18', 'uterine neoplasm', 'FISH ', '', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'In conventional low-grade ESS, JAZF1-SUZ12, PHF1-JAZF1, EPC1-PHF1 and MEAF6-PHF1, and recently described ZC3H7-BCOR chimeric fusions have been reported in > 50% of cases. '), ('1585', 'BP5_BP4', '', 'BP5', 'BP4', '18177502', '18', 'Prader Willi syndrome', 'FISH', '', '', '', '', '', '', '', 'Five recurrent breakpoints have been described in most cases of segmental aneuploidy of chromosome 15q11-q13 and previous studies have shown that most idic(15) chromosomes arise through BP3:BP3 or BP4:BP5 recombination events. '), ('1586', 'POU5F1_EWSR1', '', 'POU5F1', 'EWSR1', '20815032', '17', 'myoepithelial tumor\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', '', '', 'A EWSR1-POU5F1 fusion was identified in a pediatric soft tissue tumor by 3\'Rapid Amplification of cDNA Euds (RACE) and subsequently confirmed in four additional soft tissue tumors in children and young adults.     ///    EWSR1-POU5F1 fusion in soft tissue myoepithelial tumors.     ///    \"A subset of soft tissue ME tumors with clear cell morphology harbor an EWSR1-POU5F1 fusion, which can be used as a molecular diagnostic test in difficult cases. \"'), ('1587', 'EML4_ALK', '', 'EML4', 'ALK', '24992725', '17', 'non small cell lung cancer;lung cancer\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' EML4-ALK is a new driver gene of non-small cell lung cancer and a target of crizotinib. '), ('1588', 'CD74_ROS1', '', 'CD74', 'ROS1', '22919003', '17', 'non small cell lung cancer;lung cancer\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The patient and one TMA sample displayed expression of the recently identified SDC4-ROS1 fusion, whereas two TMA samples expressed the CD74-ROS1 fusion and two others expressed the SLC34A2-ROS1 fusion.    ///    \"The patient and one TMA sample displayed expression of the recently identified SDC4-ROS1 fusion, whereas two TMA samples expressed the CD74-ROS1 fusion and two others expressed the SLC34A2-ROS1 fusion. \"'), ('1589', 'VCL_ALK', '', 'VCL', 'ALK', '21076462', '17', 'renal cell carcinoma;colon cancer\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'FISH with a custom-designed VCL-ALK dual-fusion probe set confirmed the presence of the fusion in neoplastic cells and demonstrated the potential clinical utility of this approach for detecting VCL-ALK in routinely processed tissue.     ///    Renal cell carcinoma with novel VCL-ALK fusion: new representative of ALK-associated tumor spectrum.. '), ('1590', 'EML4_ALK', '', 'EML4', 'ALK', '25723109', '17', 'lung cancer\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'EML4-ALK inversion and ROS1 fusions emerge as common fusion abnormalities in IMT, closely recapitulating the pattern seen in lung cancer.    ///    \"In addition, next-generation paired-end RNA sequencing and FusionSeq algorithm was applied in 4 cases, which identified EML4-ALK fusions in 2 cases.\"    ///    \"Of note, EML4-ALK inversion was noted in 7 (20%) cases, seen mainly in the lung and soft tissue of young children including 2 lesions from newborns. \"    ///    \"In addition, next-generation paired-end RNA sequencing and FusionSeq algorithm was applied in 4 cases, which identified EML4-ALK fusions in 2 cases. \"    ///    \"EML4-ALK inversion and ROS1 fusions emerge as common fusion abnormalities in IMT, closely recapitulating the pattern seen in lung cancer. \"'), ('1591', 'PHF1_JAZF1', '', 'PHF1', 'JAZF1', '22918161', '17', 'endometrial stromal sarcoma', 'FISH ', '', '', '', '', '', '', '', 'Rearrangement of PHF1 was found in two patients, one with JAZF1-PHF1 fusion. '), ('1592', 'MLL_ENL', 'inv(11)(q13q23) / ', 'MLL', 'ENL', '11438682', '17', 'leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'In contrast to MLL/ENL, MLL/ELL and other MLL-fusion genes, MLL/FBP17 did not give a positive readout in a serial replating assay. '), ('1593', 'MLL_ELL', 'inv(11)(q13q23) / ', 'MLL', 'ELL', '11438682', '17', 'leukemia\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'In contrast to MLL/ENL, MLL/ELL and other MLL-fusion genes, MLL/FBP17 did not give a positive readout in a serial replating assay. '), ('1594', 'FUS_ATF1', '', 'FUS', 'ATF1', '18094413', '17', 'clear cell sarcoma;fibrous histiocytoma;sarcoma;histiocytoma\r\r', 'FISH;PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'We investigated the presence of EWSR1-CREB1, recently found in gastrointestinal clear cell sarcoma, and FUS-CREB1, as well as the already reported FUS-ATF1 and EWSR1-ATF1 in a series of AFH.     ///    \"Either FUS-ATF1 or EWSR1-ATF1 have been detected in the few cases published, pointing to the interchangeable role of FUS and EWSR1 in this entity. \"'), ('1595', 'EML4_ALK', '', 'EML4', 'ALK', '24846683', '17', '', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'EML4-ALK was evaluated using immunohistochemistry and fluorescence in situ hybridization, and EGFR mutations were analyzed using the Cycleave method.     ///    \"EML4-ALK was evaluated using immunohistochemistry and fluorescence in situ hybridization, and EGFR mutations were analyzed using the Cycleave method.\"'), ('1596', 'VCFS_DGS', '', 'VCFS', 'DGS', '19254783', '17', '22q11,2 deletion syndrome;velopharyngeal insufficiency', 'FISH ', '', '', '', '', '', '', '', 'Chromosome duplication of the region that is deleted in patients with DGS/VCFS has been reported, establishing a new genomic duplication syndrome complementary to the 22q11.2 deletion syndrome.     ///    \"The phenotype of patients is extremely variable, ranging from multiple defects to mild learning difficulties, sharing features with DGS/VCFS, including heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and with some individuals being essentially normal. \"    ///    The 3Mb duplication encompasses a region containing 40 genes including the TBX1 gene that has been shown to be the major disease gene responsible for the DGS/VCFS. '), ('1597', 'NFIB_MYB', '', 'NFIB', 'MYB', '26089205', '17', 'basal cell carcinoma', 'FISH ', '', '', '', '', '', 'KB', '', 'True ACCs often harbor MYB translocations resulting in the MYB-NFIB fusion protein. '), ('1598', 'RET_PTC3', '', 'RET', 'PTC3', '22136268', '17', 'thyloid cancer\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'We further observed that in human thyroid cells, mean distance between genes involved in two most common types of RET/PTC, that is, RET and NCOA4 (partners of RET/PTC3) and RET and H4 (partners of RET/PTC1), was 1.08??0.04 and 1.24??0.05??m, respectively. '), ('1599', 'CD23_CD20', '', 'CD23', 'CD20', '22180480', '17', 'mantle cell lymphoma;lymphoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'The most discriminating feature was the CD20/CD23 mean fluorescence intensity ratio, and we found unexpectedly that inclusion of FMC7 expression in the diagnostic algorithm actually reduced its accuracy. '), ('1600', 'FUS_CREB3L1', '', 'FUS', 'CREB3L1', '25231134', '17', 'fibrosarcoma;sarcoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'While the majority of LGFMS cases are characterized by a FUS-CREB3L1 fusion, both FUS-CREB3L2 and EWSR1-CREB3L1 fusions were recently demonstrated in a small number of LGFMS and SEF/LGFMS hybrid tumors. '), ('1601', 'NTRK1_MPRIP', '', 'NTRK1', 'MPRIP', '24162815', '17', 'lung cancer\r\r', 'FISH ', 'Kinase', '', '', '', '', '', '', 'Both the MPRIP-NTRK1 and CD74-NTRK1 fusions lead to constitutive TRKA kinase activity and are oncogenic. '), ('1602', 'SDC4_ROS1', '', 'SDC4', 'ROS1', '22919003', '17', 'non small cell lung cancer;lung cancer\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'The patient and one TMA sample displayed expression of the recently identified SDC4-ROS1 fusion, whereas two TMA samples expressed the CD74-ROS1 fusion and two others expressed the SLC34A2-ROS1 fusion. '), ('1603', 'MUM1_IRF4', '', 'MUM1', 'IRF4', '22213394', '17', 'B cell lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Tissue microarrays were constructed from 239 cases of DLBCL, and the expressions of CD10, BCL6, MUM1/IRF4, and BCL2 were evaluated by immunohistochemistry. '), ('1604', 'P-gp_ABCB1', '', 'P-gp', 'ABCB1', '25982012', '17', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', 'FISH', '', '', '', '', '', '', '', 'A co-administration strategy to enhance the brain accumulation of vandetanib by modulating P-gp/Abcb1- and Bcrp1/Abcg2-mediated efflux with mTOR inhibitors, specifically everolimus, was shown to increase the blood-brain barrier penetration. '), ('1605', 'RET_PTC3', '', 'RET', 'PTC3', '16772343', '17', 'papillary carcinoma\r\r', 'FISH;PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Sixty-five papillary carcinomas were analyzed for RET/PTC1 and RET/PTC3 using five detection methods: standard-sensitivity RT-PCR, high-sensitivity RT-PCR, real-time LightCycler RT-PCR, Southern blot analysis, and fluorescence in situ hybridization. '), ('1606', 'EWSR1_CREB3L1', '', 'EWSR1', 'CREB3L1', '25231134', '17', 'fibrosarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'While the majority of LGFMS cases are characterized by a FUS-CREB3L1 fusion, both FUS-CREB3L2 and EWSR1-CREB3L1 fusions were recently demonstrated in a small number of LGFMS and SEF/LGFMS hybrid tumors. '), ('1607', 'IFNB1_IFNA', '', 'IFNB1', 'IFNA', '1385297', '17', 'non small cell lung cancer', 'FISH ', '', '', '', '', '', '', '', 'All three mapping approaches gave concordant results and, in the case of multipoint linkage analysis, the following gene order was supported for these and other closely linked chromosome 9 markers present in the CEPH database: pter-D9S33-IFNB1/IFNA-D9S126-D9S3-D9S19 -D9S9/D9S15-ASSP3-qter. '), ('1608', 'P53_P21', '', 'P53', 'P21', '23949965', '17', 'B cell lymphoma;lymphoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'The p53 was overexpressed in 10% of cases, but p21 staining (?p21/p53) did not suggest the presence of TP53 mutations. '), ('1609', 'CD36_CD235A', '', 'CD36', 'CD235A', '19659677', '17', '', 'FISH ', '', '', '', '', '', '', '', 'Maturation was evaluated by morphologic analyses and CD36/CD235a expression profiling. '), ('1610', 'ROS1_MET', '', 'ROS1', 'MET', '23400546', '17', 'non small cell lung cancer', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', '', '', 'One of these RTKs, c-ros oncogene 1, receptor tyrosine kinase (ROS1), has been identified as a driver mutation in NSCLC, because its inhibition by crizotinib, an anaplastic lymphoma receptor tyrosine kinase (ALK)/met proto-oncogene hepatocyte growth factor receptor (MET)/ROS1 inhibitor, led to significant tumor shrinkage in ROS1-rearranged NSCLC. '), ('1611', 'GCT_GCC', '', 'GCT', 'GCC', '10719054', '17', 'neuroblastoma', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'In addition to the polymorphism in exon 2, a silent mutation (codon 336 GCC/GCT) was found in one primary tumor. '), ('1612', 'NUP98_NSD1', '', 'NUP98', 'NSD1', '15382262', '17', 'myelodysplastic syndrome\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'The reciprocal NSD1/NUP98 was not found.     ///    This is the first report of an adult with myelodysplastic syndrome (MDS) harboring an NUP98/NSD1 fusion resulting from insertion of 5\'-NUP98 into the NSD1/5q35 locus..     ///    Cryptic insertion producing two NUP98/NSD1 chimeric transcripts in adult refractory anemia with an excess of blasts.. '), ('1613', 'SLC34A2_ROS1', '', 'SLC34A2', 'ROS1', '22919003', '17', 'non small cell lung cancer;lung cancer\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The patient and one TMA sample displayed expression of the recently identified SDC4-ROS1 fusion, whereas two TMA samples expressed the CD74-ROS1 fusion and two others expressed the SLC34A2-ROS1 fusion.     ///    \"The HCC78 cell line, which expresses the SLC34A2-ROS1 fusion, was treated with kinase inhibitors that have activity against ROS1. \"'), ('1614', 'TMPRSS2_ETV1', '', 'TMPRSS2', 'ETV1', '23814484', '17', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'Finally, we found one PCa with TMPRSS2-ETV1, one with C15orf21-ETV1, one with EST14-ETV1, and two with 14q133-q21.1-ETV1. '), ('1615', 'MTOR_AKT1', '', 'MTOR', 'AKT1', '26510912', '17', 'osteosarcoma;sarcoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Immunohistochemistry-based morphoproteomic analysis revealed c-Met expression [(p)-c-Met (Tyr1234/1235)] and activation of mTOR/AKT pathway [IGF-1R (Tyr1165/1166), p-mTOR [Ser2448], p-Akt (Ser473)] and expression of SPARC and COX2. '), ('1616', 'MDM2_CDK4', '', 'MDM2', 'CDK4', '10755400', '17', 'liposarcoma;sarcoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'All lipomas displayed a null MDM2/CDK4 phenotype, whereas all LL-WDL showed MDM2/CDK4 or CDK4 phenotypes.     ///    The expression of MDM2/CDK4 gene product in the differential diagnosis of well differentiated liposarcoma and large deep-seated lipoma..     ///    \"In conclusion, MDM2/CDK4 product-based immunophenotyping appears to represent a valuable method for the categorization of arguable LDSL.. \"'), ('1617', 'RUNX1T1_RUNX1', '', 'RUNX1T1', 'RUNX1', '21422114', '17', 'acute myeloid leukemia;myeloid leukemia;leukemia;hematologic malignancy\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', '1st quartile) with those with intermediate or high expression (2nd-4th quartiles), certain mutations were observed more frequently in the former: RUNX1-RUNX1T1 (11/83, 13.3% versus 5/203. '), ('1618', 'PIK3CA_MYOD1', '', 'PIK3CA', 'MYOD1', '26501226', '17', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'All 4 cases harboring coexisting MYOD1/PIK3CA mutations shared sclerosing morphology. '), ('1619', 'AE3_AE1', '', 'AE3', 'AE1', '25699170', '17', 'gastrointestinal cancer', 'FISH;PCR', '', '', '', '', '', '', '', 'SMA, Desmin, CD34, CD117 and S100 were negative in all cases, whereas EMA and/or CK AE1/AE3 were positive in all cases. '), ('1620', 'BCRP1_ABCG2', '', 'BCRP1', 'ABCG2', '25982012', '17', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', 'FISH', '', '', '', '', '', '', '', 'In vitro studies have shown that vandetanib is a high-affinity substrate of breast cancer resistance protein (Bcrp1/Abcg2) but is not transported by P-glycoprotein (P-gp), limiting its blood-brain barrier penetration.     ///    \"A co-administration strategy to enhance the brain accumulation of vandetanib by modulating P-gp/Abcb1- and Bcrp1/Abcg2-mediated efflux with mTOR inhibitors, specifically everolimus, was shown to increase the blood-brain barrier penetration. \"'), ('1621', 'ETV1_C15orf21', '', 'ETV1', 'C15orf21', '23814484', '17', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', '', '', 'Finally, we found one PCa with TMPRSS2-ETV1, one with C15orf21-ETV1, one with EST14-ETV1, and two with 14q133-q21.1-ETV1. '), ('1622', 'P160_P15', '', 'P160', 'P15', '7727766', '17', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Deletions of p16INK4a/p15INK4b were identified in 18 of 20 cases with cytogenetically observed abnormalities of 9p and 5 of 23 with apparently normal chromosomes 9p, with the majority containing bi-allelic deletions (16 homozygous/7 hemizygous).     ///    \"In this select group of patients, deletion of p16INK4a/p15INK4b was associated with T-cell phenotype, nonhyperdiploid karyotype (< 50 chromosomes), and poor event-free survival. \"    ///    \"These findings indicate that deletion of the p16INK4a/p15INK4b locus is one of the most common genetic abnormalities so far detected in pediatric ALL, and that loss of one or more of these cell cycle kinase inhibitors is important in leukemogenesis.. \"    ///    \"To determine if the p16INK4a/p15INK4b locus might be the target of these chromosomal lesions, we analyzed both genes in primary clinical samples from 43 pediatric ALL patients using interphase fluorescence in situ hybridization, Southern blot analysis, and the polymerase chain reaction. \"'), ('1623', 'NFATC1_EWSR1', '', 'NFATC1', 'EWSR1', '25851709', '17', 'capillary hemangioma;ovarian neoplasm', 'FISH ', '', '', '', '', 'Transcription_Factor', 'KB', '', 'In addition, a novel EWSR1-NFATC1 fusion has recently been described in a case of hemangioma of bone. '), ('1624', 'MYC_BCL2', '', 'MYC', 'BCL2', '26448193', '17', 'B cell lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' Patients with MYC/BCL2 double-hit lymphoma (DHL) are known to have an aggressive clinical course and to respond poorly to various therapies including intensive chemotherapy and stem cell transplant.     ///    \"In conclusion, patients with SHL have distinct clinicopathologic features but a similar poor prognosis compared with patients with MYC/BCL2 DHL. \"'), ('1625', 'SERPINE1_FOSB', '', 'SERPINE1', 'FOSB', '25043949', '17', 'hemangioendothelioma', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', '', '', 'Although FOSB-rearranged EH do not show significant morphologic overlap with SERPINE1-FOSB fusion-positive pseudomyogenic hemangioendothelioma, FOSB oncogenic activation is emerging as an important event in these benign and intermediate groups of vascular tumors.. '), ('1626', 'TFG_ROS1', '', 'TFG', 'ROS1', '25723109', '17', 'lung cancer\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'Two of the cases showed TFG-ROS1 fusions. '), ('1627', 'KLF17_EWSR1', '', 'KLF17', 'EWSR1', '25706482', '17', 'myoepithelial tumor\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'Novel FUS-KLF17 and EWSR1-KLF17 fusions in myoepithelial tumors.. '), ('1628', 'SCP3_SCP1', '', 'SCP3', 'SCP1', '16803849', '17', '', 'FISH ', '', '', '', '', '', '', '', 'An immunocytogenetic approach allowed analysis of pachytene cells, using antibodies to detect the mature synaptonemal complex (SCP1/SCP3), the centromere (CREST) and sites of crossing over (MLH1). '), ('1629', 'NTRK1_CD74', '', 'NTRK1', 'CD74', '24162815', '17', 'lung cancer\r\r', 'FISH ', 'Kinase', '', '', '', '', '', '', 'Both the MPRIP-NTRK1 and CD74-NTRK1 fusions lead to constitutive TRKA kinase activity and are oncogenic. '), ('1630', 'FUS_CREB1', '', 'FUS', 'CREB1', '18094413', '17', 'clear cell sarcoma;fibrous histiocytoma;sarcoma;histiocytoma\r\r', 'FISH;PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'We investigated the presence of EWSR1-CREB1, recently found in gastrointestinal clear cell sarcoma, and FUS-CREB1, as well as the already reported FUS-ATF1 and EWSR1-ATF1 in a series of AFH. '), ('1631', 'KIF5B_ALK', '', 'KIF5B', 'ALK', '22347464', '16', 'lung cancer\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We developed a 5\'-rapid amplification of cDNA ends-based system optimized for FFPE tissues and evaluated this system on a lung cancer tissue with ALK rearrangement and without the 2 known ALK fusions EML4-ALK and KIF5B-ALK. '), ('1632', 'EML4_ALK', '', 'EML4', 'ALK', '22347464', '16', 'lung cancer\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We developed a 5\'-rapid amplification of cDNA ends-based system optimized for FFPE tissues and evaluated this system on a lung cancer tissue with ALK rearrangement and without the 2 known ALK fusions EML4-ALK and KIF5B-ALK. '), ('1633', 'VCFS_DGS', '', 'VCFS', 'DGS', '21866110', '16', 'velo cardio facial syndrome\r\r', 'FISH ', '', '', '', '', '', '', '', 'Therefore, the duplicated segment did not include T-box 1 gene (TBX1), the gene primarily responsible for the DGS/VCFS. '), ('1634', 'CALM_AF10', '', 'CALM', 'AF10', '16956820', '16', 'T ALL;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'Our data on CALM-AF10 rearranged T-ALL, albeit based on only three patients, suggest that this type of leukemia is associated with a poor outcome..     ///    \"In our cohort study, CALM-AF10 was associated with an immature immunophenotype and poor outcome (p=0.005). \"    ///    \"The patients were assigned to TAL1, HOX11/TLX1, HOX11L2/TLX3, or CALM-AF10 subgroups. \"'), ('1635', 'ALK_EML4', '', 'ALK', 'EML4', '26988569', '16', 'non small cell lung cancer;lung cancer\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', ' Currently, several approaches are being used to detect echinoderm microtubule associated protein like 4 gene (EML4)-anaplastic lymphoma receptor tyrosine kinase gene (ALK) rearrangement, but the performance of laboratories in China is unknown.     ///    Reliability Assurance of Detection of EML4-ALK Rearrangement in Non-Small Cell Lung Cancer: The Results of Proficiency Testing in China..     ///    \"We prepared formalin-fixed, paraffin-embedded samples derived from the xenograft tumor tissue of three non-small cell lung cancer cell lines with different EML4-ALK rearrangements and used PTs to evaluate the detection performance of laboratories in China. \"    ///    Our PT survey revealed that the performance and methodological problems of laboratories must be addressed to further increase the reproducibility and accuracy of detection of EML4-ALK rearrangement to ensure reliable results for selection of appropriate patients..     ///    \"To evaluate the proficiency of different laboratories in detecting EML4-ALK rearrangement, we organized a proficiency test (PT). \"'), ('1636', 'BCR_ABL1', '', 'BCR', 'ABL1', '8697423', '16', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Detection of the breakpoint cluster region-ABL fusion in chronic myeloid leukemia with variant Philadelphia chromosome translocations by in situ hybridization.. '), ('1637', 'LEUTX_CIC', '', 'LEUTX', 'CIC', '26735859', '16', 'angiosarcoma', 'FISH ', '', '', '', '', '', '', '', 'Concurrent CIC mutations and CIC rearrangements were identified in both index cases, with a CIC-LEUTX fusion detected in 1 case. '), ('1638', 'EML4_ALK', '', 'EML4', 'ALK', '22722791', '16', 'non small cell lung cancer;non small cell lung cancer;small cell lung c\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The assay also detected EML4-ALK variants 1 or 3 in three FFPE samples of surgically resected NSCLC shown to be positive for anaplastic lymphoma kinase rearrangement by fluorescence in situ hybridization.     ///    \"We developed an assay system for the detection of EML4-ALK variants 1, 2, 3a, 3b, 4, 5a, 5b, 6, or 7 transcripts in total RNA obtained from formalin-fixed, paraffin-embedded (FFPE) specimens of NSCLC tissue. \"    ///    \"However, the currently available assays for the detection of the different variants of EML4-ALK have limitations. \"    ///    Evaluation of the analytic sensitivity of the assay with serial dilutions of plasmids containing EML4-ALK complementary DNA sequences revealed it to be capable of the reliable detection of one copy of each plasmid per reaction.     ///    \"Furthermore, the assay identified variant 1 of EML4-ALK in 3 of 20 FFPE biopsy samples from patients with advanced NSCLC. \"    ///    Our novel assay is highly sensitive and effective for the detection of EML4-ALK in FFPE specimens..     ///    The assay is based on region-specific polymerase chain reaction amplification of EML4-ALK complementary DNA followed by specific single-base primer extension and analysis of the extension products by matrix-assisted laser desorption/ionization-time of flight mass spectrometry. '), ('1639', 'RET_PTC', '', 'RET', 'PTC', '16007166', '16', 'papillary carcinoma;thyloid cancer\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'One tumor without a detectable mutation was predicted by the classifier to have a RET/PTC rearrangement and was shown to contain one by fluorescence in situ hybridization analysis.     ///    \"The tumors were genotyped for their common activating mutations: BRAF V600E point mutation, RET/PTC1 and 3 rearrangement and point mutations of KRAS, HRAS and NRAS. \"    ///    \"By combining expression profiles with mutational status, we defined distinct expression profiles for the BRAF, RET/PTC and RAS mutation groups. \"    ///    \"Molecular classification of papillary thyroid carcinoma: distinct BRAF, RAS, and RET/PTC mutation-specific gene expression profiles discovered by DNA microarray analysis.. \"'), ('1640', 'MLLT1_MLL', '', 'MLLT1', 'MLL', '12367585', '15', 'leukemia', 'FISH', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'however, those bearing MLL/MLLT1 translocations are predominantly lymphoid, suggesting that MLLT1 may influence the leukemic phenotype. '), ('1641', 'EWSR1_ATF1', 't(12; 22)(q13; q12) / / ', 'EWSR1', 'ATF1', '19620941', '15', 'clear cell sarcoma;melanoma;sarcoma\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Although morphologically similar to malignant melanoma, CCSST can be distinguished by the presence of a t(12; 22)(q13; q12) and/or associated EWSR1-ATF1 chimeric gene.    ///    q12) and/or associated EWSR1-ATF1 chimeric gene. '), ('1642', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '19963130', '15', 'thyroid carcinoma\r\r', 'FISH ', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'In this study, a group of 60 follicular thyroid neoplasms [18 FTC, 1 Hurthle cell carcinoma (HCC), 24 follicular thyroid adenomas (FTA), 5 Hurthle cell adenomas (HCA), and 12 follicular variants of papillary thyroid carcinomas (FV-PTC)] were analyzed to determine the prevalence of the PAX8-PPARG translocation by fluorescence in situ hybridization.     ///    Fluorescence in situ hybridization analysis using PAX8- and PPARG-specific probes reveals the presence of PAX8-PPARG translocation and 3p25 aneusomy in follicular thyroid neoplasms..     ///    It is hereby concluded that 3p25 aneusomy or PAX8-PPARG translocation may play an important role in the molecular pathogenesis of follicular thyroid tumors..     ///    Detection of either the PAX8-PPARG translocation or the 3p25 aneusomy in FTC indicates that these are independent genetic events.     ///    The PAX8-PPARG translocation was detected in 2/18 FTC (11.1%).     ///    The PAX8-PPARG translocation has been reported to occur in the majority of FTC. '), ('1643', 'NDRG1_ERG', '', 'NDRG1', 'ERG', '19649210', '15', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'This study demonstrates that most ERG-overexpressing prostate cancers harbor hormonally regulated TMPRSS2-ERG, SLC45A3-ERG, or NDRG1-ERG fusions.     ///    \"Unlike TMPRSS2-ERG and SCL45A3-ERG fusions, the NDRG1-ERG fusion is predicted to encode a chimeric protein. \"'), ('1644', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '19649210', '15', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'This study demonstrates that most ERG-overexpressing prostate cancers harbor hormonally regulated TMPRSS2-ERG, SLC45A3-ERG, or NDRG1-ERG fusions.     ///    \"This study demonstrates that most ERG-overexpressing prostate cancers harbor hormonally regulated TMPRSS2-ERG, SLC45A3-ERG, or NDRG1-ERG fusions.\"    ///    \"Unlike TMPRSS2-ERG and SCL45A3-ERG fusions, the NDRG1-ERG fusion is predicted to encode a chimeric protein. \"'), ('1645', 'DUX4_CIC', '', 'DUX4', 'CIC', '25007147', '15', 'ewing sarcoma;desmoplastic small round cell tumor;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Aside from the desmoplastic stroma, the CIC-FOXO4 fusion sarcoma showed morphologic and immunohistochemical similarity to ESFT and Ewing-like sarcomas, including the recently described CIC-DUX4 fusion sarcoma. '), ('1646', 'SLC45A3_ERG', '', 'SLC45A3', 'ERG', '19649210', '15', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'This study demonstrates that most ERG-overexpressing prostate cancers harbor hormonally regulated TMPRSS2-ERG, SLC45A3-ERG, or NDRG1-ERG fusions.     ///    \"Screening for known 5\' partners, we determined that three cases harbored the SLC45A3-ERG fusion. \"'), ('1647', 'MUM1_IRF4', '', 'MUM1', 'IRF4', '21997689', '15', 'follicular lymphoma', 'FISH ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'We performed immunohistochemistry for CD20, CD3, CD10, BCL6, IRF4/MUM1, and BCL2 and interphase fluorescence in situ hybridization for translocations involving BCL2, BCL6, and IRF4. '), ('1648', 'MYC_BCL2', '', 'MYC', 'BCL2', '26182827', '15', 'non Hodgkin lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In conclusion, BCL2 translocation is a rare cytogenetic abnormality in BL, and BL probably accounts for only a small fraction of MYC/BCL2 DH lymphomas.     ///    \"However, we know little about the incidence of MYC/BCL2 double-hit (DH) in BL. \"    ///    Low incidence of MYC/BCL2 double-hit in Burkitt lymphoma.. '), ('1649', 'BCR_ABL1', '', 'BCR', 'ABL1', '26149409', '15', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'BCR-ABL1 e6a2 transcript in chronic myeloid leukemia: biological features and molecular monitoring by droplet digital PCR..     ///     The BCR-ABL1 fusion on the Philadelphia (Ph) chromosome is a hallmark of chronic myeloid leukemia (CML).     ///    \"More than 95 % of BCR-ABL1 transcripts in CML are either e13a2 or e14a2 (major breakpoint cluster region or M-bcr), whereas rare BCR-ABL1 transcripts are occasionally observed, accounting for less than 1 % of CML cases. \"'), ('1650', 'IGH_BCL6', 't(14;18)(q32;q21) / ', 'IGH', 'BCL6', '23642737', '15', 'follicular lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', '', '', '', '2 cases carried a BCL6/IGH translocation. '), ('1651', 'EML4_ALK', '', 'EML4', 'ALK', '24346098', '15', 'squamous cell carcinoma', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Preselection based on clinical characteristics in German non-small-cell lung cancer patients screened for EML4-ALK translocation..     ///    EML4-ALK positive patients seem to have distinct clinical features and show long responses to a number of systemic therapies..     ///    We present the results of clinical preselection before EML4-ALK testing in a German NSCLC cohort.     ///    \"EML4-ALK fusion is uncommon, reported in about 5% of NSCLC patients. \"    ///    16.4% of patients were positive for EML4-ALK fusion. '), ('1652', 'BCL2_IGH', '', 'BCL2', 'IGH', '12692620', '15', 'non Hodgkin lymphoma;follicular lymphoma;lymphoma\r\r', 'FISH;PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Minimal residual disease was assessed by polymerase chain reaction (PCR) for bcl-2/IgH translocations, and chimerism by X,Y-FISH or PCR amplification of short tandem repeat sequences.     ///    A graft-versus-lymphoma effect was demonstrable and quantitative PCR for bcl-2/IgH may allow better accuracy in scheduling post-allograft rituximab and/or donor lymphocyte infusions. ');
INSERT INTO `ChimerPub_dump` VALUES ('1653', 'NPM_ALK', '', 'NPM', 'ALK', '18275429', '15', 'anaplastic large cell lymphoma;lymphoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'ALK-positive ALCL with NPM-ALK or other ALK variant translocations showed a similar profile of secondary genetic alterations. '), ('1654', 'BCR_ABL1', '', 'BCR', 'ABL1', '15654903', '15', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Clinical correlates of submicroscopic deletions involving the ABL-BCR translocation region in chronic myeloid leukemia.. '), ('1655', 'ZFP36_FOSB', '', 'ZFP36', 'FOSB', '26135557', '15', 'angiolymphoid hyperplasia;angiolymphoid hyperplasia with eosinophilia, ALHE,', 'FISH ', '', '', '', '', 'Transcription_Factor', '', '', 'Although a small subset of EHs with atypical features harbor ZFP36-FOSB fusions, no additional genetic abnormalities have been found to date in the remaining cases. '), ('1656', 'TMED6_COG8', '', 'TMED6', 'COG8', '26045774', '15', 'esophageal cancer;hepatocellular carcinoma', 'FISH;PCR', '', '', '', '', '', '', '', 'have discovered that TMED6-COG8 is dramatically increased in TFE3 translocation RCCs, compared with clear cell RCCs and papillary RCCs, implying that TMED6-COG8 might be a new molecular tumor marker of TFE3 translocation RCCs.     ///    \"To extend this observation, we firstly validated the TMED6-COG8 expression level by qRT-PCR in RCCs including Xp11.2 translocation RCCs (n=5), clear cell RCCs (n=7) and papillary RCCs (n=5). \"    ///    TMED6-COG8 is a novel molecular marker of TFE3 translocation renal cell carcinoma..     ///    We found that TMED6-COG8 chimera expression level was higher in Xp11.2 translocation RCCs than in ASPS (P<0.05).     ///    \"Therefore, our observations from this study indicated that TMED6-COG8 chimera might act as a novel diagnostic marker in Xp11.2 translocation RCCs.. \"    ///    \"Then, we also examined the expression level of TMED6-COG8 chimera in Xp11.2 translocation alveolar soft part sarcoma. \"    ///    \"What\'s more, the expression levels of TMED6-COG8 chimera in esophagus cancers (n=32), gastric cancers (n=11), colorectal cancers (n=12), hepatocellular carcinomas (n=10) and non-small-cell lung cancers (n=12) were assessed. \"    ///    \"Unexpectedly, TMED6-COG8 chimera was decreased in these five human types. \"'), ('1657', 'MALT1_API2', '', 'MALT1', 'API2', '16484127', '15', 'MALT lymphoma;B cell lymphoma;lymphoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'API2-MALT1 translocation was detected in 1 (7%) of 14 DLBCL cases and in 1 (17%) of 6 MALT lymphoma cases. '), ('1658', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '18686281', '15', 'hypereosinophilic syndrome\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'As IFPs are characterized by an inflammatory infiltrate rich in eosinophils, we used fluorescence in situ hybridization in a subset of tumours to investigate a possible FIP1L1-PDGFRA translocation which is known as the cause of hypereosinophilic syndrome (HES).     ///    None of the cases revealed the FIP1L1-PDGFRA translocation. '), ('1659', 'MUM1_IRF4', '', 'MUM1', 'IRF4', '23332472', '15', 'anaplastic large cell lymphoma;lymphomatoid papulosis;lymphoproliferative disorder;mycosis fungoides', 'FISH', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'The significance of MUM1/IRF4 protein expression and IRF4 translocation of CD30(+) cutaneous T-cell lymphoproliferative disorders: a study of 53 cases..     ///    In contrast MUM1/IRF4 protein expression was distributed widely without any predictive value.. '), ('1660', 'IGH_BCL2', '', 'IGH', 'BCL2', '21997689', '15', 'follicular lymphoma', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The second group (group B) included 9 cases of low histologic grade, which strongly expressed BCL2 protein and had IGH@/BCL2 translocations (7 cases evaluable).     ///    \"One group (group A) included 7 cases, which were negative or weakly positive for BCL2 protein and lacked IGH@/BCL2 translocations (6 cases evaluable). \"'), ('1661', 'MALT1_API2', '', 'MALT1', 'API2', '22742986', '15', 'B cell lymphoma;lymphoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Select gastric DLBCLs (N?=?6) and MALTs (N?=?13) were further examined for API2-MALT1 and IGH translocations, and P16 and P53 protein expression.     ///    \"Gastric MALTs showed frequent API2-MALT1 (38%) but not IGH translocations (0%), and the DLBCLs showed neither translocation. \"    ///    \"In addition, API2-MALT1, P16 and P53 abnormalities occurred frequently in gastric lymphomas from this North American population. \"'), ('1662', 'TPM3_ALK', '', 'TPM3', 'ALK', '25416234', '15', 'anaplastic large cell lymphoma;lymphoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Here we report on an ALK-positive ALCL patient, who had complex translocations with TPM3-ALK revealed by RNA sequencing, with a very aggressive clinical course. '), ('1663', 'EWSR1_ATF1', '', 'EWSR1', 'ATF1', '20090505', '14', 'fibrous histiocytoma;osteosarcoma;sarcoma;histiocytoma\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'fluorescence in situ hybridization for EWSR1 gene disruption, and reverse transcription-polymerase chain reaction using newly designed primers on both frozen and decalcified, paraffin-embedded tissue samples showing an EWSR1-ATF1 translocation. '), ('1664', 'ENO1L1_C1orf1', '', 'ENO1L1', 'C1orf1', '9653645', '14', '', 'FISH ', '', '', '', '', '', '', '', 'we could thus show that the telomere to centromere gene order was PTPRZ2-(MBP-1/ENO1/ENO1L1)-(C1orf1/XBX1)-+ ++FRAP2. '), ('1665', 'PTPRZ2_MBP1', '', 'PTPRZ2', 'MBP1', '9653645', '14', '', 'FISH ', '', '', '', '', '', '', '', 'we could thus show that the telomere to centromere gene order was PTPRZ2-(MBP-1/ENO1/ENO1L1)-(C1orf1/XBX1)-+ ++FRAP2. '), ('1666', 'NTRK3_ETV6', '', 'NTRK3', 'ETV6', '26252941', '14', 'salivary gland cancer\r\r', 'FISH ', 'Kinase', '', '', '', '', 'KB', 'Seq', 'It is known that overexpression of signal transducer and activator of transcription 5a (STAT5a) occurs in secretory carcinoma of the breast and MASC, and STAT5a expression may be related to the ETV6-NTRK3 translocation. '), ('1667', 'EML4_ALK', '', 'EML4', 'ALK', '24885803', '14', 'non small cell lung cancer;lung cancer\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Echinoderm microtubule associated proteinlike 4-anaplastic lymphoma receptor tyrosine kinase (EML4-ALK) translocation has been described in a subset of patients with non-small cell lung cancer (NSCLC) and has been shown to have oncogenic activity.     ///    \"We also performed a MassARRAY-based analysis (Sequenom, San Diego, California) in a small subset of 11 samples to detect EML4-ALK rearrangement. \"    ///    \"In the 2 discrepant cases, we did not detect any mass peaks for the EML4-ALK variants by MassARRAY. \"'), ('1668', 'SYT_SSX', '', 'SYT', 'SSX', '14633069', '14', 'synovial sarcoma;renal cell carcinoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'The diagnosis was validated by fluorescence in situ hybridization and reverse transcription-polymerase chain reaction, which demonstrated SYT-SSX translocation: a characteristic cytogenetic finding for synovial sarcoma. '), ('1669', 'MET_ALK', '', 'MET', 'ALK', '24380695', '14', 'mucinous carcinoma', 'FISH', 'Kinase', 'Oncogene', '', '', '', '', '', ' ROS1 proto-oncogene translocations define a new molecular subgroup in non-small cell lung cancers (NSCLC) and are associated with a response to the MET/ALK inhibitor, crizotinib. '), ('1670', 'BCL2_IGH', '', 'BCL2', 'IGH', '17493380', '13', 'B cell lymphoma;B cell lymphoma;lymphoma\r\r', 'FISH', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Among 60 cases of DLBCL, bcl-2/IgH was positive in 10 cases and bcl-2 gene amplification was detected in 18 cases. '), ('1671', 'FUS_ATF', 't(12;16)  / t(12;16)(q13;p11) / t(16;21)(p11;q22) / t(12;22)(q13;q12) / ', 'FUS', 'ATF', '11063792', '13', 'acute myeloid leukemia;liposarcoma;myeloid leukemia;leukemia;clear cell sarcoma;melanoma;fibrous hitiocytoma\n\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'We found that the FUS (also known as TLS) gene from 16p11 combined with the ATF-1 gene from 12q13 to generate a chimeric FUS/ATF-1. '), ('1672', 'MLL_KIAA1524', '', 'MLL', 'KIAA1524', '20943269', '13', 'acute myeloid leukemia;myeloid leukemia;leukemia;hematologic malignancy\r\r', 'FISH', '', '', '', '', '', '', '', 'KIAA1524 has never been related to hematologic malignancies before, and the current AML case is the first case in which an MLL-KIAA1524 fusion was described.. '), ('1673', 'EWS_ATF', 't(12;16)  / t(12;16)(q13;p11) / t(16;21)(p11;q22) / t(12;22)(q13;q12) / ', 'EWS', 'ATF', '11063792', '13', 'acute myeloid leukemia;liposarcoma;myeloid leukemia;leukemia;clear cell sarcoma;melanoma;fibrous histiocytoma\n\r\r', 'FISH ', '', '', '', '', '', '', '', 'Thus, the FUS/ATF-1 gene in angiomatoid fibrous histiocytoma is predicted to code for a protein that is very similar to the chimeric EWS/ATF-1 found in clear cell sarcoma.. '), ('1674', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '21482711', '13', 'plasmocytoma', 'FISH', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Clonal origins of relapse in ETV6-RUNX1 acute lymphoblastic leukemia..     ///    \"These data indicate subclonal diversity at diagnosis, providing a variable basis for intraclonal origins of relapse and extended periods (years) of dormancy, possibly by quiescence, for stem cells in ETV6-RUNX1(+) acute lymphoblastic leukemia.. \"    ///    \" B-cell precursor childhood acute lymphoblastic leukemia with ETV6-RUNX1 (TEL-AML1) fusion has an overall good prognosis, but relapses occur, usually after cessation of treatment and occasionally many years later. \"'), ('1675', 'AE3_AE1', '', 'AE3', 'AE1', '25674274', '13', 'neuroectodermal tumor;clear cell sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'They were positive for vimentin, S-100, synaptophysin, CD56 and CD99 protein, but negative for AE1/AE3, EMA, CEA, LCA, Desmin, CK7, CK20, Villin, CgA, CD117, Dog-1, GFAP, Melan-A, HMB-45, CD34, CR, WT1, D2-40. '), ('1676', 'CK7_CK5', '', 'CK7', 'CK5', '21577319', '13', 'adenoid cystic carcinoma;acinic cell carcinoma;adenocarcinoma;mucoepidermoid carcinoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'However, ACCs displayed well organized basal-luminal differentiation, highlighted by CK5/CK7 immunostaining. '), ('1677', 'MYC_BCL2', '', 'MYC', 'BCL2', '26462634', '13', 'B cell lymphoma;lymphoma\r\r', 'FISH', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' To investigate the effect of BCL-2/MYC double-hit on prognosis in diffuse large B-cell lymphoma?DLBCL?.     ///    BCL-2/MYC genes double-hit was the factor for the adverse outcome in DLBCL patients.     ///    [Prognostic analysis of BCL-2/MYC double- hit in diffuse large B-cell lymphoma].. '), ('1678', 'MALT1_IGH', '', 'MALT1', 'IGH', '19035248', '13', 'MALT lymphoma;lymphoma\r\r', 'FISH ', '', '', '', '', '', '', '', 't (1;14)/IgH- BCL10 and t (14;18)/MALT1-IgH] in ocular adnexal mucosa-associated lymphoid tissue lymphomas (OA-MALT lymphomas). '), ('1679', 'MYC_BCL2', '', 'MYC', 'BCL2', '25090026', '13', 'B cell lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In univariate analysis, high MYC/BCL2 DHS, high MYC/BCL6 DHS and high THS were associated with inferior OS and PFS in both CHOP and R-CHOP cohorts (P<0.05).     ///    \"Patients with high MYC/BCL2 DHS, high MYC/BCL6 DHS and high THS had multiple adverse prognostic factors including high LDH level, poor performance status, advanced clinical stage, high International Prognostic Index (IPI) score, and non-germinal center B-cell. \"'), ('1680', 'MALT1_API2', '', 'MALT1', 'API2', '19576081', '13', 'MALT lymphoma;lymphoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'q21)/API2-MALT1, t (1.     ///    \"q21) API2-MALT1 was found with the highest frequency in MALT lymphoma from lungs (47%, 8/17) and small intestine (29%, 4/14), followed by salivary gland (17%, 1/6), stomach (14%, 12/84) and ocular adnexae (6%, 4/68). \"    ///    \"q21) API2-MALT1 13% (29/217), t (1. \"'), ('1681', 'MUM1_IRF4', '', 'MUM1', 'IRF4', '11520558', '13', 'B cell lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'The other partners were 19q13 (BCL3), 6p25 (MUM1/IRF4), 1q36, and chromosome 8 identified in one patient each. '), ('1682', 'TNFAIP3_A20', '', 'TNFAIP3', 'A20', '21745165', '13', 'MALT lymphoma;B cell lymphoma;lymphoma;systemic lupus erythematosus;arthritis\r\r', 'FISH ', '', '', '', '', '', '', '', 'Trisomy 3 was detected in one patient and another showed a TNFAIP3/A20 deletion. '), ('1683', 'AE3_AE1', '', 'AE3', 'AE1', '26191301', '13', 'sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'They were positive for ALK, Desmin, SMA, CD30, but negative for AE1/AE3, LCA, CD2, CD3, CD5, CD7, S-100, CD34, CD31, EMA, MyoD1, and myogenin. '), ('1684', 'MALT1_IGH', '', 'MALT1', 'IGH', '19080537', '13', 'MALT lymphoma;lymphoma\r\r', 'FISH ', '', '', '', '', '', '', '', '18)/MALT1-IgH were rare. '), ('1685', 'CFTR_AAV', '', 'CFTR', 'AAV', '8875221', '13', 'cystic fibrosis\r\r', 'FISH ', '', '', '', '', '', '', '', 'Fluorescence in situ hybridization (FISH) and Southern blotting of DNA from IB3-1 cells infected with wild-type (wt) or recombinant AAV-CFTR were performed.     ///    Recombinant AAV-CFTR integrates at low frequency in a nonspecific manner and persists in episomal form in this epithelial cell line..     ///    The goal of this study was to determine the fate of recombinant AAV containing the CFTR cDNA (AAV-CFTR) in an immortalized pseudotetraploid CF bronchial epithelial cell line (IB3-1) established from a patient with CF.     ///    however episomal AAV-CFTR sequences were abundant in the low molecular weight DNA fraction.     ///    Examination of 67 metaphase chromosome spreads of IB3-1 cells infected with AAV-CFTR vector (Azero) identified four integrations (6%) to different chromosomes. '), ('1686', 'IR10_GABRB3', '', 'IR10', 'GABRB3', '8388764', '13', 'angelman syndrome;Prader Willi syndrome\r\r', 'FISH ', '', '', '', '', '', '', '', 'The probe [locus] order extending distally from the centromere is 34[D15S9]-IR4-3R[D15S11]-189-1[D15S13]-PW71++ + [D15S63]-3-21[D15S10]-28 beta 3-H3[GABRB3]-IR10-1 [D15S12]. '), ('1687', 'CHEK1_ATR', '', 'CHEK1', 'ATR', '24142626', '13', 'squamous cell carcinoma\r\r', 'FISH;PCR', 'Kinase', '', '', '', '', '', '', 'Upregulation of the ATR-CHEK1 pathway in oral squamous cell carcinomas..     ///    \"In conclusion, the ATR-CHEK1 pathway is upregulated in a subset of OSCC with distal 11q loss and loss of the G(1) phase cell cycle checkpoint. \"    ///    The upregulated ATR-CHEK1 pathway appears to protect OSCC cells from mitotic catastrophe by enhancing the G(2) checkpoint.     ///    These findings suggest that inhibition of the upregulated ATR-CHEK1 pathway may enhance the efficacy of ionizing radiation treatment of OSCC..     ///    We observed similar upregulation of the ATR-CHEK1 pathway in a subset of oral squamous cell carcinoma (OSCC) cell lines with ATM loss.     ///    \" The ATR-CHEK1 pathway is upregulated and overactivated in Ataxia Telangiectasia (AT) cells, which lack functional ATM protein. \"    ///    \"Loss of ATM in AT confers radiosensitivity, although ATR-CHEK1 pathway overactivation compensates, leads to prolonged G(2) arrest after treatment with ionizing radiation (IR), and partially reverses the radiosensitivity. \"'), ('1688', 'SYT_SSX', 'p11;q11 / ', 'SYT', 'SSX', '22393780', '13', 'synovial sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'The translocation leads to production of chimeric protein SYT/SSX by fusion of SYT and SSX genes involved. '), ('1689', 'EML4_ALK1', '', 'EML4', 'ALK1', '25806314', '13', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', 'FISH', '', '', '', '', '', '', '', 'After EGFR several other driver genes such as echinoderm microtubule associated protein like 4-AL-Kinase 1 (EML4-ALK1), c-ros oncogene 1, receptor tyrosine kinase (ROS1), discoidin domain receptor tyrosine kinase 2 (DDR2), fibroblast growth factor receptor 1 (FGFR1) were discovered, and more to come. '), ('1690', 'NEU_ERBB2', '', 'NEU', 'ERBB2', '10408862', '13', 'breast cancer;breast carcinoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'c-erbB2/neu gene and chromosome 17 analysis in breast cancer by FISH on archival cytological fine-needle aspirates..     ///    \"Here, we combine two well-established techniques, fine-needle aspiration (FNA) and fluorescence in situ hybridization (FISH), to detect c-erbB2/neu amplification in patients candidate to primary chemotherapy and, in part, previously analysed for c-erbB2/neu overexpression. \"    ///    Sixty smears from FNA were used to simultaneously detect c-erbB2/neu and chromosome 17 centromere.     ///    \"c-erbB2/neu overexpression is usually detected by immunocytochemistry (ICC), although this technique is neither completely reproducible nor highly reliable, owing to specimen and methodologic variability and antibody sensitivity. \"'), ('1691', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '19998443', '13', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' This study describes the cytogenetics of 33 children with ETV6-RUNX1 positive acute lymphoblastic leukemia (ALL) who had been in continuous complete remission for a minimum of 8.8 years [median event-free survival (EFS) 10.9 years].     ///    Cytogenetics of long-term survivors of ETV6-RUNX1 fusion positive acute lymphoblastic leukemia.. '), ('1692', 'MDR1_AAV', '', 'MDR1', 'AAV', '8818718', '13', 'sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'After transfection of AAV-MDR1 vectors, the integration of MDR1 sequences into the host cell genome was demonstrated by fluorescent in situ hybridization (FISH).     ///    \"In addition, Southern analysis of low-molecular-weight DNA extracted from drug-resistant cells grown under continuous selection pressure indicated the persistence of nonintegrated AAV-MDR1 plasmids. \"'), ('1693', 'MYC_BCL6', '', 'MYC', 'BCL6', '25090026', '13', 'B cell lymphoma;lymphoma\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In univariate analysis, high MYC/BCL2 DHS, high MYC/BCL6 DHS and high THS were associated with inferior OS and PFS in both CHOP and R-CHOP cohorts (P<0.05).     ///    \"Patients with high MYC/BCL2 DHS, high MYC/BCL6 DHS and high THS had multiple adverse prognostic factors including high LDH level, poor performance status, advanced clinical stage, high International Prognostic Index (IPI) score, and non-germinal center B-cell. \"'), ('1694', 'TAL1_STIL', '', 'TAL1', 'STIL', '19055661', '13', 'T ALL\r\r', 'FISH;PCR', '', '', '', '', 'Transcription_Factor', '', '', ' The t(X;7)(q22;q34), a translocation not previously reported in a neoplastic disorder, was identified and molecularly characterised in a paediatric T-cell acute lymphoblastic leukaemia (T-ALL), subsequently shown also to harbour a deletion of 6q, a STIL/TAL1 fusion and an activating NOTCH1 mutation. '), ('1695', 'ZFY_ZFX', '', 'ZFY', 'ZFX', '25169080', '13', 'disorders of sex development', 'FISH;PCR', '', '', '', '', '', '', '', 'The set of PCR primers for the diagnosis of microdeletion of the AZFa, AZFb and AZFc region included: sY84, sY86, sY127, sY134, sY254, sY255, SRY and ZFX/ZFY. '), ('1696', 'KLC1_ALK', '', 'KLC1', 'ALK', '22347464', '12', 'lung cancer\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'KLC1-ALK: a novel fusion in lung cancer identified using a formalin-fixed paraffin-embedded tissue only..     ///    \"With this system, we successfully identified a novel ALK fusion, KLC1-ALK. \"    ///    \"To the best of our knowledge, KLC1-ALK is the first novel oncogenic fusion identified using only FFPE tissues. \"    ///    \"Then, we synthesized the putative full-length cDNA of KLC1-ALK and demonstrated the transforming potential of the fusion kinase with assays using mouse 3T3 cells. \"'), ('1697', 'HEY1_NCOA2', '', 'HEY1', 'NCOA2', '26146478', '12', 'mesenchymal chondrosarcoma', 'FISH', '', '', '', '', 'Transcription_Factor', 'KB', '', 'Characterization of downstream targets of the HEY1-NCOA2 fusion protein, xenograft models, and drug screening are needed to identify novel therapeutic strategies.    ///    \"Characterization of downstream targets of the HEY1-NCOA2 fusion protein, xenograft models, and drug screening are needed to identify novel therapeutic strategies. \"'), ('1698', 'BCR_ABL1', '', 'BCR', 'ABL1', '26111048', '12', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Flow Cytometric Immunobead Assay for Detection of BCR-ABL1 Fusion Proteins in Chronic Myleoid Leukemia: Comparison with FISH and PCR Techniques..     ///    \"Currently, measurement of BCR-ABL1 mRNA transcript levels by real-time quantitative PCR (RQ-PCR) defines critical response endpoints. \"    ///    The resulting BCR-ABL1 oncogene leads to increased proliferation and survival of leukemic cells.     ///    \"Here we describe a flow-cytometry assay that detects the presence of BCR-ABL1 fusion proteins in CML lysates to determine the applicability, reliability, and specificity of this method for both diagnosis and monitoring of CML patients for initial response to therapy. \"    ///    An antibody-based technique for BCR-ABL1 protein recognition could be an attractive alternative to RQ-PCR. '), ('1699', 'PLCG1_KDR', '', 'PLCG1', 'KDR', '26735859', '12', 'angiosarcoma', 'FISH ', 'Kinase', '', '', '', '', '', '', 'FLT4-amplified AS lacked PLCG1/KDR mutations, occurring predominantly in MYC-amplified population, and showed poor prognosis. '), ('1700', 'BCR_ABL1', '', 'BCR', 'ABL1', '7786793', '12', '', 'FISH;PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Fluorescence in situ hybridization was labelled cosmid probes for BCR and ABL showed the presence of BCR-ABL juxtaposition on a normal chromosome 22 in leukaemia cell metaphases. '), ('1701', 'BCR_ABL1', '', 'BCR', 'ABL1', '8127150', '12', '', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'By PCR all had evidence of BCR-ABL transcripts, but none had evidence of the reciprocal ABL-BCR gene product that is seen in 70% of the Ph-positive CML patients.     ///     We used fluorescence in situ hybridization (FISH) to metaphase chromosomes with BCR and ABL cosmid probes in conjunction with the polymerase chain reaction (PCR) to study the mechanism by which the ABL proto-oncogene is inserted into a morphologically normal chromosome 22 in patients with Ph-negative chronic myeloid leukaemia characterized by the BCR-ABL chimeric gene. '), ('1702', 'PTD_MLL', '', 'PTD', 'MLL', '22348217', '12', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR', '', '', '', '', '', '', '', 'The molecular analysis was performed on the cDNA level, with the restriction analysis of PCR products (FLT3-TKD), conventional PCR (MLL-PTD, NPM1mut, FLT3-ITD) and quantification RT-PCR method (expression of fusion transcripts, BAALC, WT1).     ///    \"Further analysis revealed FLT3-ITD in 5/20 (25%), FLT3-TKD in 3/20 (15%), NPM1mut in 2/20 (10%) and MLL-PTD in 1/20 (5%), overexpression of WT1 gene in 15/20 (75%) and overexpression of BAALC in 13/20 (65%) patients. \"'), ('1703', 'AE3_AE1', '', 'AE3', 'AE1', '23157742', '11', 'squamous cell carcinoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Cases positive for NUT immunohistochemistry and negative for EBER in situ hybridization were submitted for fluorescent in situ hybridization (FISH) for rearrangements in both BRD4 and NUT genes, and immunohistochemical staining for a set of cytokeratins (AE1/AE3, CK7, CK8), p63,and neuroendocrine markers (NSE, Syn, CgA, S-100 protein, CD56). '), ('1704', 'BCR_ABL1', '', 'BCR', 'ABL1', '23171811', '11', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', 'FISH;PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', '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.. '), ('1705', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '23171811', '11', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', 'FISH;PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'The ETV6/ABL1 fusion was also confirmed by fluorescence in situ hybridization using a mixture of BCR/ABL1 and ETV6/RUNX1 probes. '), ('1706', 'STRN_ALK', '', 'STRN', 'ALK', '25527510', '11', 'papillary carcinoma;thyloid cancer\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Two rearrangements of ALK were striatin (STRN)-ALK fusions, which were identified by 5\' RACE analysis. '), ('1707', 'ETO_AML1', '', 'ETO', 'AML1', '17680522', '11', '', 'FISH ', '', '', '', '', '', '', '', '21) translocation probe to confirm the AML1/ETO rearrangement.     ///    21) had AML1/ETO rearrangement. '), ('1708', 'FL1_EWS', '', 'FL1', 'EWS', '23108259', '11', 'neuroectodermal tumor\r\r', 'FISH ', '', '', '', '', '', '', '', 'CD99 positivity on immunohistochemistry and EWS-FL1 chimera gene detected by FISH support the diagnosis. '), ('1709', 'CARS_ALK', '', 'CARS', 'ALK', '13679433', '10', '', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Identification of CARS-ALK fusion in primary and metastatic lesions of an inflammatory myofibroblastic tumor.. '), ('1710', 'KIAA1549_BRAF', '', 'KIAA1549', 'BRAF', '25165270', '10', 'pilocytic astrocytoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'A secondary goal was to determine whether BRAF-KIAA1549 (B-K) fusion is associated with a better PFS.    ///    A secondary goal was to determine whether BRAF-KIAA1549 (B-K) fusion is associated with a better PFS. '), ('1711', 'BCR_ABL1', '', 'BCR', 'ABL1', '16502580', '10', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Using these second-generation probes, it was discovered that a significant proportion of CML cases has a sub-microscopic deletion at the site of the ABL-BCR fusion. '), ('1712', 'P27_KIP1', '', 'P27', 'KIP1', '16918124', '10', 'transitional cell carcinoma', 'FISH', '', '', '', '', '', '', '', 'Oncogenes (H-ras, erbB-2, EGFR, MDM2, C-MYC, CCND1), tumor suppressor genes (p53, Rb, p21, p27/KIP1, p16, PTEN, STK15, FHIT, FEZ1/LZTS1, bc10), telomerase, and methylation have all been studied in bladder cancer. '), ('1713', 'NRAS_KRAS', '', 'NRAS', 'KRAS', '26336887', '10', 'adenocarcinoma\r\r', 'FISH ', '', 'Oncogene', '', '', '', '', '', 'KRAS/NRAS mutations are common in mesonephric carcinoma and are often accompanied by gain of 1q and mutations in chromatin remodeling genes.     ///    \"Mesonephric carcinoma is characterized by molecular alterations that differ from those of more common variants of cervical and endometrial adenocarcinoma, which harbor KRAS/NRAS mutations in 7% and 25% of cases, respectively. \"'), ('1714', 'MTS1_CDK4I', '', 'MTS1', 'CDK4I', '12148857', '10', 'squamous cell carcinoma;retinoblastoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Cyclin D1 amplification and p16(MTS1/CDK4I) deletion correlate with poor prognosis in head and neck tumors.. '), ('1715', 'MYCN_MYC', '', 'MYCN', 'MYC', '19255330', '10', 'medulloblastoma', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Given these findings, the following hierarchical molecular staging system was defined: (1) MYC/MYCN amplification, (2) 6q gain, (3) 17q gain, (4) 6q and 17q balanced, and (5) 6q deletion. '), ('1716', 'NOS_IDC', '', 'NOS', 'IDC', '22393991', '10', 'breast cancer', 'FISH', '', '', '', '', '', '', '', 'A total of 425 cases of infiltrating carcinoma of breast (99% IDC-NOS) were studied. '), ('1717', 'PDGFRB_CSF1R', '', 'PDGFRB', 'CSF1R', '19377443', '10', 'renal cell carcinoma', 'FISH', 'Kinase', '', '', 'Receptor', '', '', '', 'FISH analysis demonstrated whole chromosomal gain and relative CSF1R/PDGFRB copy number gain in clear cell renal cell carcinomas, which might contribute to CSF1R overexpression. '), ('1718', 'P53_P47', '', 'P53', 'P47', '24932611', '10', 'colon cancer\r\r', 'FISH', '', '', '', '', '', '', '', 'The molecular mechanisms involved, including the stabilization of HIF-1 ?, the involvement of p53/p47 isoform and cell cycle arrest at G2, suggest novel targets to prevent tumor relapse and treatment failure in colon cancer. '), ('1719', 'DM2_DM1', '', 'DM2', 'DM1', '26505324', '10', 'myotonic dystrophy', 'FISH', '', '', '', '', '', '', '', 'In particular, 74 were DM2 positive, 39 were DM2/DM1 negative and 13 DM2 negative/DM1 positive. '), ('1720', 'PTEN_DMBT1', '', 'PTEN', 'DMBT1', '14656070', '10', 'astrocytoma;mixed oligoastrocytoma', 'FISH ', '', '', 'Tumor_suppressor', '', '', '', '', 'EGFR amplification (p = 0.0007) and deletions of PTEN/ DMBT1 (p = 0.016) or p16 (p = 0.014), either individually or as a group (p = 0.04), portended a shorter median survival compared with tumors lacking these alterations.     ///    \"Detectable deletions included combined 1p/19q (9%), solitary 19q (22%), PTEN/DMBT1 (26%), and p16 (32%). \"'), ('1721', 'WAF1_CIP1', '', 'WAF1', 'CIP1', '16061257', '10', '', 'FISH;PCR', '', '', '', '', '', '', '', 'UV or ionizing radiation) is necessary for p53 activation of the p21(Cip1/WAF1) promoter.     ///    \"In contrast, the R273H/P309S-mutated p53 protein in SW480 constitutively activates p21(Cip1/WAF1) in the absence of stress through an unknown mechanism. \"    ///    \"Analysis of p21(Cip1/WAF1) expression and in vivo footprinting by ligation-mediated PCR (LMPCR) showed that, in wild-type LoVo cells, an exposure to cellular stress (e.g. \"'), ('1722', 'RB1_CCND1', '', 'RB1', 'CCND1', '15543620', '10', 'lung cancer\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Although CDK4 amplification seems to be a relatively rare event (4.3%) in lung tumors, it indicates the significance of the RB1-CCND1 pathway in lung tumorigenesis.. '), ('1723', 'GSTT1_GSTM1', '', 'GSTT1', 'GSTM1', '14752874', '10', 'myelodysplastic syndrome\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'The double null GSTM1/GSTT1 genotype was also overrepresented in Caucasian AA and MDS patients.     ///    There seems to be an increased risk for AA and MDS in individuals lacking GSTT1 or both GSTM1/GSTT1.. '), ('1724', 'KRAS_BRAF', '', 'KRAS', 'BRAF', '26553611', '10', 'colorectal cancer;colon cancer\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', '', '', 'MP of 6892 CRCs identified significant differences between primary and metastatic sites and among BRAF/KRAS sub-types. '), ('1725', 'P53_MDM2', '', 'P53', 'MDM2', '12745272', '10', 'multiple myeloma\r\r', 'FISH ', '', 'Oncogene', '', '', '', '', '', ' Disruption of either the p14ARF- mdm2- p53 or p16INK4A- Rb1 pathways produces a breakdown of regulatory mechanisms and creates a gateway for tumorigenesis. '), ('1726', 'SATB1_HER2', '', 'SATB1', 'HER2', '25956130', '10', 'breast cancer\r\r', 'FISH ', '', '', '', '', '', '', '', 'Comparing to SATB1 or HER2 single positive expression, SATB1/HER2 co-expression tended to have even worse prognosis.     ///    \"SATB1, HER2 and SATB1/HER2 co-expression was negatively correlated with HR expression (r?=?-0.228, p?=?0.003. \"'), ('1727', 'BCR_ABL1', '', 'BCR', 'ABL1', '10688835', '10', '', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'FISH analysis with BCR- and ABL-specific probes in LAMA84R cells revealed the presence of a marker chromosome containing approximately 13 to 14 copies of the BCR/ABL gene. '), ('1728', 'TP53_AURKB', '', 'TP53', 'AURKB', '22688343', '10', 'breast carcinoma;breast carcinoma\r\r', 'FISH', 'Kinase', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'The loss of TP53/AURKB loci strongly correlated with aneusomy (p < 0.0001). '), ('1729', 'SHH_PTCH', '', 'SHH', 'PTCH', '15581023', '10', 'neuroectodermal tumor', 'FISH ', '', '', '', '', '', '', '', 'These results indicated a connection between alterations of PTCH/SHH genes and abnormalities of chromosome 17. '), ('1730', 'CCND1_CDK4', '', 'CCND1', 'CDK4', '12148857', '10', 'squamous cell carcinoma;retinoblastoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The p16 gene regulates cyclin D1-CDK4 activity and prevents retinoblastoma tumor suppressor gene phosphorylation, thereby downregulating cellular proliferation. '), ('1731', 'MEG3_DMR', '', 'MEG3', 'DMR', '25351781', '10', 'Silver-Russell syndrome', 'FISH', '', '', '', '', '', '', '', 'Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotype..     ///    Pyrosequencing identified hypomethylation of the DLK1-MEG3 intergenic differentially methylated region (IG-DMR) and the MEG3-DMR in two cases.     ///    \"The results indicate the occurrence of epimutation affecting the IG-DMR and the MEG3-DMR in the two cases, and imply that UPD(14)mat and related (epi)genetic aberrations constitute a rare but important underlying factor for SRS.. \"'), ('1732', 'RET_NCOA4', '', 'RET', 'NCOA4', '26660078', '10', 'colorectal cancer', 'FISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Three RTK fusions were identified: NCOA4-RET, ERBB2-GRB7, and ETV6-NTRK3. '), ('1733', 'PRB_P16', '', 'PRB', 'P16', '26339389', '10', 'breast cancer', 'FISH ', '', '', '', '', '', '', '', 'Altered p16/pRB(+) and non-altered p16/pRB(+) type was the most common in the luminal B, and altered p16/pRB(-) and non-altered p16/pRB(+) type was the most common in the luminal A (P < 0.001). '), ('1734', 'H19_DMR', '', 'H19', 'DMR', '25351781', '10', 'Silver-Russell syndrome', 'FISH', '', '', '', '', '', '', '', 'Thus, we examined the relevance of UPD(14)mat and related (epi)genetic aberrations to the development of SRS in 85 Japanese patients who satisfied the SRS diagnostic criteria proposed by Netchine et al and had neither epimutation of the H19-DMR nor maternal uniparental disomy 7. '), ('1735', 'HER3_HER2', '', 'HER3', 'HER2', '21638049', '10', 'breast cancer\r\r', 'FISH ', '', '', '', '', '', '', '', 'In situ detection of HER2:HER2 and HER2:HER3 protein-protein interactions demonstrates prognostic significance in early breast cancer..     ///    \"Co-expression of HER2 and HER3 is associated with endocrine and chemotherapy resistance, driven not simply by expression but by signalling via HER2:HER3 or HER2:HER2 dimers. \"    ///    PLA successfully and reproducibly detected HER2:HER2 and HER2:HER3 protein complexes in vivo.     ///    \"Similarly, high levels of HER2:HER3 dimers were associated with reduced RFS (HR = 2.18, 95% CI = 1.46-3.26, P = 0.00016) and OS (HR = 2.21, 95% CI = 1.41-3.47, P = 0.001). \"'), ('1736', 'MYC_EIF3H', '', 'MYC', 'EIF3H', '19204574', '10', 'non small cell lung cancer;lung cancer\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' We investigated the incidence of eukaryotic translation initiation factor 3 subunit H (EIF3H) and MYC amplification in non-small cell lung cancer (NSCLC) patients, and whether MYC/EIF3H increased gene copy number affected response to Epidermal Growth Factor Receptor tyrosine kinase inhibitors. '), ('1737', 'MMSET_FGFR3', '', 'MMSET', 'FGFR3', '21057542', '10', 'multiple myeloma', 'FISH ', 'Kinase', '', '', '', '', '', '', ' Dysregulation of cyclin D2 contributes to the pathogenesis of multiple myeloma, and can occur through translocations that activate MAF/MAFB or MMSET/FGFR3. '), ('1738', 'BCR_ALB', '', 'BCR', 'ALB', '12419587', '10', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'Consecutive analysis along 2.5 years from remission showed 0.2-4.5% m-BCR/ALB(+) cells in the peripheral blood (PB), which is within the accepted background range for this method. '), ('1739', 'TNFAIP3_CD30', '', 'TNFAIP3', 'CD30', '23039325', '10', 'Hodgkin lymphoma', 'FISH', '', '', '', '', '', '', '', 'We found that the relative numbers of TNFAIP3/CD30 cells were distributed among three groups, corresponding to those having homozygous (11%), heterozygous (32%), and no (57%) deletions in TNFAIP3. '), ('1740', 'PAR2_PAR1', '', 'PAR2', 'PAR1', '18925931', '10', 'canavan disease', 'FISH;PCR', '', '', '', 'Receptor', '', '', '', 'The results in PAR1/PAR2 are the first large-scale studies of gene dosage in these regions, and the findings at the ASMT locus indicate that further studies of the duplication of the ASMT gene are needed in order to gain insight into its potential involvement in ASD. '), ('1741', 'GRB7_ERBB2', '', 'GRB7', 'ERBB2', '26660078', '10', 'colorectal cancer', 'FISH', 'Kinase', 'Oncogene', '', '', '', '', '', 'Three RTK fusions were identified: NCOA4-RET, ERBB2-GRB7, and ETV6-NTRK3. '), ('1742', 'P160_RB1', '', 'P160', 'RB1', '12745272', '10', 'multiple myeloma\r\r', 'FISH ', '', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', ' Disruption of either the p14ARF- mdm2- p53 or p16INK4A- Rb1 pathways produces a breakdown of regulatory mechanisms and creates a gateway for tumorigenesis. '), ('1743', 'RARA_PML', '', 'RARA', 'PML', '17350466', '10', 'malignant meningioma', 'FISH ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'FISH with LSI 9p21, CEP9, LSI PML/RARA, and CGH confirmed the karyotype complexity in this case. '), ('1744', 'MCP_C4BP', '', 'MCP', 'C4BP', '8641143', '10', '', 'FISH ', '', '', '', '', '', '', '', 'We also propose that PTPRC and REN genes map to a region of the RCA gene cluster between the HF1/F13B and C4BP/MCP regions.     ///    \"In summary, we propose the following gene order: centromere-HF1/F13B-PTPRC-REN-C4BP/MCP-telomere.. \"    ///    We report here that HF1/F13B are proximal to the C4BP/MCP genes. '), ('1745', 'MDM2_CDK4', '', 'MDM2', 'CDK4', '24557201', '10', 'liposarcoma;sarcoma\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' MDM2/CDK4 gene amplification has been shown to be sensitive and specific for the diagnosis of well-differentiated lipoma-like liposarcoma (WD-LLLPS).     ///    \"The incidence of MDM2/CDK4 amplification was reassuringly low (5%) in this cohort of LN, despite their large and/or deep-seated nature. \"    ///    Two (3%) cases showed dual MDM2/CDK4 amplification and 2 (3%) showed MDM2 amplification alone.     ///    Mdm2/Cdk4 amplification in large and/or deep-seated lipomatous neoplasms without overtly atypical morphological features..     ///    \"The clinical, radiological and pathological features of all cases with CDK4/MDM2 amplification were reviewed. \"    ///    To assess the incidence of MDM2/CDK4 amplification in large and/or deep seated LN without overtly atypical morphological features and to examine the clinicopathological features of cases showing these alterations. '), ('1746', 'DMD_BMD', '', 'DMD', 'BMD', '9272708', '10', 'Duchenne and Becker muscular dystrophies', 'FISH;PCR', '', '', '', '', '', '', '', 'The results obtained clearly demonstrate the feasibility of this method for detecting female DMD/BMD carriers.. '), ('1747', 'EML4_ALK', '', 'EML4', 'ALK', '24638510', '10', 'non small cell lung cancer', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In this series, resected tumors from NSCLC patients at single center were detected for mutation in EGFR, as well as KRAS, BRAF, HER2, EML4-ALK and PIK3CA. '), ('1748', 'LIN28B_LIN28', '', 'LIN28B', 'LIN28', '24839957', '10', 'ependymoblastoma;medulloblastoma', 'FISH', '', '', '', '', '', '', '', 'Strikingly, gene expression and methylation profiling analyses revealed a common molecular signature enriched for primitive neural features, high LIN28/LIN28B and DNMT3B expression for all group 1 CNS-PNETs regardless of location or tumor histology. '), ('1749', 'NUP214_ABL1', '', 'NUP214', 'ABL1', '16673019', '10', 'T ALL\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Episomal NUP214-ABL1 amplification and activating mutations in NOTCH1, two other recently identified 9q34 abnormalities in T-ALL, were also detected in our patient cohort. '), ('1750', 'MYC_HER2', '', 'MYC', 'HER2', '21245420', '10', 'breast cancer\r\r', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' Findings from the human epidermal growth factor receptor 2 (HER2) -positive National Surgical Adjuvant Breast and Bowel Project (NSABP) B31 trial suggested that MYC/HER2 coamplification (> 5.0 copies/nucleus) was associated with additional benefit from adjuvant trastuzumab in patients with early-stage breast cancer. '), ('1751', 'GLIPR1L2_GLIPR1L1', '', 'GLIPR1L2', 'GLIPR1L1', '20978342', '10', 'multiple myeloma\r\r', 'FISH ', '', '', '', '', '', '', '', 'However, a deletion of the GLIPR1/GLIPR1L1/ GLIPR1L2 gene cluster, all p53 targets, was found in three of 32 samples (9.4%) indicating that these deleted genes may have significant implications in MM. '), ('1752', 'HER2_EGFR', '', 'HER2', 'EGFR', '17069674', '10', 'large cell carcinoma', 'FISH ', 'Kinase', '', '', '', '', '', '', 'EGFR/HER2 dimer is one of the predominant heterodimerization types in lung cancer. '), ('1753', 'HER3_HER2', '', 'HER3', 'HER2', '25017122', '10', 'breast cancer\r\r', 'FISH ', '', '', '', '', '', '', '', 'HER2/HER3 co-overexpression is significantly associated with impaired OS from diagnosis of metastatic disease in patients with HER2-positive metastatic breast cancer.     ///    Co-inhibition of HER2 and HER3 or the inhibition of HER2/HER3 hetero-dimerization may improve clinical outcome in this subgroup..     ///    Co-overexpression of HER2/HER3 is a predictor of impaired survival in breast cancer patients..     ///    HER2/HER3 co-overexpression was observed in 12/110 (11%) specimens and HER3-overexpression showed a statistically significant association with HER2-overexpression (p = 0.02). '), ('1754', 'KRAS_BRAF', '', 'KRAS', 'BRAF', '26208846', '10', '', 'FISH', 'Kinase', 'Oncogene', '', '', '', '', '', 'NGS assay revealed mutations of the TP53 (2 of 7, 29%), BRAF/KRAS (2 of 7, 29%), and PI3KCA/PTEN genes (7 of 7, 100%). '), ('1755', 'HF1_F13B', '', 'HF1', 'F13B', '8641143', '10', '', 'FISH ', '', '', '', '', '', '', '', 'We report here that HF1/F13B are proximal to the C4BP/MCP genes.     ///    \"In summary, we propose the following gene order: centromere-HF1/F13B-PTPRC-REN-C4BP/MCP-telomere.. \"    ///    We also propose that PTPRC and REN genes map to a region of the RCA gene cluster between the HF1/F13B and C4BP/MCP regions. '), ('1756', 'LZTS1_FEZ1', '', 'LZTS1', 'FEZ1', '16918124', '10', 'transitional cell carcinoma', 'FISH', '', '', '', '', '', '', '', 'Oncogenes (H-ras, erbB-2, EGFR, MDM2, C-MYC, CCND1), tumor suppressor genes (p53, Rb, p21, p27/KIP1, p16, PTEN, STK15, FHIT, FEZ1/LZTS1, bc10), telomerase, and methylation have all been studied in bladder cancer. '), ('1757', 'KCND3_KCND2', '', 'KCND3', 'KCND2', '10102938', '10', '', 'FISH ', '', '', '', '', '', '', '', 'Kv4.2, sensitive), our results strongly support the hypothesis that, in ferret heart, Kv4.2/Kv4.3 and Kv1.4 alpha subunits, respectively, are the molecular substrates underlying the Ito,epi and Ito,endo phenotypes. '), ('1758', 'TCD_SCT', '', 'TCD', 'SCT', '15064692', '10', '', 'FISH', '', '', '', '', '', '', '', ' Graft rejection is a major cause of treatment failure after T-cell-depleted stem cell transplantation (TCD-SCT) and remains a therapeutic challenge.     ///    We report two adult patients with haematological malignancies who underwent sex-mismatched TCD-SCT from HLA-identical sibling donors. '), ('1759', 'VCFS_DGS', '', 'VCFS', 'DGS', '11807885', '10', 'velocardiofacial syndrome\r\r', 'FISH ', '', '', '', '', '', '', '', 'For DGS/VCFS, the primers used were DGCR2/TUPLE1 loci.     ///    \"In all, 20 study patients were involved: 10 PWS/AS and 10 DGS/VCFS. \"    ///    \"Similarly, 6 of the 10 patients referred for DGS/VCFS showed deletion for the DGCR2/TUPLE1 loci on one chromosome 22. \"'), ('1760', 'P14_MDM2', '', 'P14', 'MDM2', '12745272', '10', 'multiple myeloma\r\r', 'FISH ', '', 'Oncogene', '', '', '', '', '', ' Disruption of either the p14ARF- mdm2- p53 or p16INK4A- Rb1 pathways produces a breakdown of regulatory mechanisms and creates a gateway for tumorigenesis. '), ('1761', 'HER4_HER1', '', 'HER4', 'HER1', '17465227', '10', '', 'FISH ', '', '', '', '', '', '', '', '78 SCC were stained immunohistochemically for HER1-HER4. '), ('1762', 'TOPO_HER2', '', 'TOPO', 'HER2', '24080492', '10', 'breast cancer\r\r', 'FISH', '', '', '', '', '', '', '', 'Our results provide evidence for a predominant male breast cancer phenotype, characterized by HR expression and a lack of HER2/Topo II-? alterations and CEP17 duplicates.     ///    \"Therefore, the impact of anthracycline sensitivity linked to HER2/Topo II-? alterations as found in female breast cancer has low clinical significance for this specific male breast cancer phenotype. \"'), ('1763', 'EWSR1_CREB3L1', '', 'EWSR1', 'CREB3L1', '26449317', '10', 'fibrosarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Fluorescence in situ hybridization assay using dual staining probes detected EWSR1-CREB3L1 fusion in each lesion, which is characteristic molecular findings of SEF. '), ('1764', 'PDGFRA_KIT', '', 'PDGFRA', 'KIT', '17643098', '10', 'gastrointestinal cancer', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'Mutually exclusive KIT or platelet-derived growth factor receptor-alpha mutations are key events in gastrointestinal stromal tumor pathogenesis, and specific treatment targeting KIT/platelet-derived growth factor receptor-alpha activation is available. '), ('1765', 'BCR_ABL1', '', 'BCR', 'ABL1', '26580488', '10', '', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We used five BCR/ABL1-positive samples, 20 BCR/ABL1-negative samples and two samples with ambiguous results to verify the cutoff calibrated by these two models. '), ('1766', 'P63_P51', '', 'P63', 'P51', '10797291', '10', 'squamous cell carcinoma\r\r', 'FISH', '', '', '', '', '', '', '', ' We have identified a new human p53 homologue, p40 (p51/p63). '), ('1767', 'MTFP1_H2B', '', 'MTFP1', 'H2B', '21641986', '10', '', 'FISH ', '', '', '', '', '', '', '', 'mTFP1-H2B) in a single cell. '), ('1768', 'IGH_CCND1', '', 'IGH', 'CCND1', '17638669', '10', 'chronic lymphocytic leukemia;leukemia;mantle cell lymphoma;lymphoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Two cases with CCND1/IGH fusion were reclassified as mantle cell lymphoma. '), ('1769', 'AKAP4_AKAP3', '', 'AKAP4', 'AKAP3', '16009167', '10', 'male infertility', 'FISH ', '', '', '', '', '', '', '', 'In 11 of 12 DFS patients, polymerase chain reaction for detecting the presence of partial sequence of AKAP4/AKAP3 binding regions gave positive results. '), ('1770', 'CK8_CK7', '', 'CK8', 'CK7', '23611265', '10', 'Barrett\'s esophagus\r\r', 'FISH', '', '', '', '', '', '', '', 'The expression of CK7/CK4 and CK7/CK8 in BE showed positive correlation (P < 0.05). '), ('1771', 'MISRII_MIS', '', 'MISRII', 'MIS', '16007601', '10', 'mixed gonadal dysgenesis', 'FISH;PCR', '', '', '', '', '', '', '', 'No mutations were observed in MIS/MISRII genes.. '), ('1772', 'TRF1_TIN2', '', 'TRF1', 'TIN2', '21477109', '10', 'dyskeratosis congenita', 'FISH ', '', '', '', '', '', '', '', 'This suggests that the disruption of TIN2-TRF1 interaction may contribute to the severe clinical phenotype observed in the context of the TIN2 truncation mutation, but is unlikely to be the primary cause of telomere shortening associated with the more prevalent TIN2 missense mutations. '), ('1773', 'MSCS_CD34', '', 'MSCS', 'CD34', '21933581', '10', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', 'Transcription_Factor', '', '', 'CML patient-derived Flk1(+)CD31(-)CD34(-) MSCs had normal morphology, phenotype and karyotype while appeared impaired in immuno-modulatory function.     ///    The capacity of patient Flk1(+)CD31(-)CD34(-) MSCs to inhibit T lymphocyte activation and proliferation was impaired in vitro. '), ('1774', 'HER2_EGFR', '', 'HER2', 'EGFR', '19309723', '10', 'adenoid cystic carcinoma', 'FISH ', 'Kinase', '', '', '', '', '', '', ' Gene amplification status of the epidermal growth factor receptor (EGFR) and the human epidermal growth factor receptor 2 (HER2) were analyzed and correlated with clinical outcome in patients with progressive malignant salivary glands tumors (MSGT) treated with the dual EGFR/Her2 tyrosine kinase inhibitor lapatinib. '), ('1775', 'PI3K_ERBB3', '', 'PI3K', 'ERBB3', '20129249', '10', 'lung cancer\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', '', '', ' MET amplification activates ERBB3/PI3K/AKT signaling in EGFR mutant lung cancers and causes resistance to EGFR kinase inhibitors. '), ('1776', 'LSCS_CD38', '', 'LSCS', 'CD38', '19096043', '10', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'We have previously shown that CD34(+)CD38(-) LSCs can be identified using stem cell-associated cell surface markers, including C-type lectin-like molecule-1 (CLL-1), and lineage markers, such as CD7, CD19, and CD56. '), ('1777', 'TPM3_NTRK1', '', 'TPM3', 'NTRK1', '26716414', '10', 'colon cancer\r\r', 'FISH ', 'Kinase', '', '', '', '', 'KB', 'Seq', 'NTRK1 fusions were mutually exclusive oncogenic drivers of colon cancer that were accompanied with in vitro potential of colony formation and in vivo tumorigenicity comparable to KM12, a human colon cancer cell line harboring TPM3-NTRK1 fusion.     ///    \"Here we identified recurrent LMNA-NTRK1 and TPM3-NTRK1 fusions in Korean patients with colon cancer (3 out of 147, 2%) through next-generation RNA sequencing (RNA-seq). \"'), ('1778', 'KRAS_BRAF', '', 'KRAS', 'BRAF', '26077004', '10', 'non small cell lung cancer;breast cancer;colorectal cancer;lung cancer\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'The KRAS-LCS6 TG genotype has been detected in 16.4% (32/195) of breast cancer cases (in HER2 positive breast cancer 3.3%, in HER2 negative breast cancer 20.1%), in 12.4% (53/428) of CRC cases (KRAS/BRAF wild type CRC in 10.6%, KRAS mutant CRC in 10.1%, BRAF V600E mutant CRC in 18.5%), in 13.2% (41/311) of NSCLC samples, (EGFR mutant NSCLC patients in 8%, EGFR wild type NSCLC in 12.9%), and 17.9% (27/151) of brain tumour cases. '), ('1779', 'HBB_ERBB2', '', 'HBB', 'ERBB2', '15201972', '10', 'osteosarcoma;sarcoma\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'We calculated the quantification of HER2/neu oncogene amplification as the ratio of measured HER2/neu gene/beta-globin reference gene in real-time PCR. '), ('1780', 'C21_LRP', '', 'C21', 'LRP', '10207158', '10', 'down syndrome\r\r', 'FISH', '', '', '', '', '', '', '', 'Gene distribution in the region includes 9 known genes (c21-LRP, WRB, SH3BGR, HMG14, PCP4, DSCAM, MX2, MX1, and TMPRSS2) and 14 new additional gene signatures consisting of cDNA selection products and ESTs. '), ('1781', 'KCC4_KCC1', '', 'KCC4', 'KCC1', '11701957', '10', '', 'FISH ', '', '', '', '', '', '', '', 'To date, four KCC isoforms (KCC1-KCC4) have been identified and they all mediate obligatorily coupled, electroneutral transmembrane movement of K(+) and Cl(-) ions. '), ('1782', 'HER2_ER', '', 'HER2', 'ER', '16012712', '10', 'breast cancer\r\r', 'FISH ', '', '', '', '', '', '', '', 'The Ki-67 labeling index (LI) was highest in ER(-)/HER2(-) (36.5%), and decreased in order from ER(-)/HER2(+) (31.4%), ER(+)/HER2(+) (17.7%), to (ER(+)/HER2(-) (15.9%) (p=0.001).     ///    and iv) ER(-)/HER2(-) (19.0%).     ///    Breast cancer specimens (n=58) were categorized into four groups: i) ER(+)/HER2(-) (51.7%).     ///    ii) ER(+)/HER2(+) (8.6%).     ///    \"ER(-)/HER2(-) breast cancers have potential in the development of novel therapeutics, including targeted medicines.. \"    ///    \"EGFR, p53 and vimentin were highly expressed in ER(-)/HER2(-) breast cancer cells (p<0.01). \"    ///    iii) ER(-)/HER2(+) (20.7%).     ///    \"The purpose of present study is to examine ER(-)/HER2(-) breast cancers, with a particular focus on epidermal growth factor receptor (EGFR). \"    ///    \"Overall, the ER(-)/HER2(-) breast cancer showed the highest Ki-67 LI, the most frequent expression of EGFR, p53 and vimentin, as well as the lowest expression of cyclinD1. \"'), ('1783', 'TFE3_RCC', '', 'TFE3', 'RCC', '26975036', '10', 'renal cell carcinoma;alveolar soft part sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'We corroborate prior data showing that the PRCC-TFE3 RCCs are the only known Xp11 translocation RCC molecular subtype that are consistently cathepsin K positive. '), ('1784', 'NEU_HER2', '', 'NEU', 'HER2', '16892551', '10', 'carcinoma', 'FISH ', '', '', '', '', '', '', '', 'An overexpression of Her2/ neu is found in 10-20% of invasive urothelial carcinomas and occasionally in Cis (5 %). '), ('1785', 'PDGFRA_KIT', '', 'PDGFRA', 'KIT', '18623623', '10', '', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', '', '', ' Most GIST patients develop clinical resistance to KIT/PDGFRA tyrosine kinase inhibitors (TKI).     ///    and KIT/PDGFRA wild-type GISTs.     ///    \"KIT kinase resistance mutations were not found in KIT/PDGFRA wild-type GISTs or in KIT-mutant GISTs showing unusual morphology and/or loss of KIT expression by IHC, indicating that resistance mechanisms are fundamentally different in these tumours. \"'), ('1786', 'VCFS_DGS', '', 'VCFS', 'DGS', '8696341', '10', 'velocardiofacial syndrome', 'FISH ', '', '', '', '', '', '', '', 'These results strongly support the hypothesis that haploinsufficiency of a gene or genes within 10p (the DGSII locus) can cause the DGS/VCFS spectrum of malformation.. '), ('1787', 'KRAS_BRAF', '', 'KRAS', 'BRAF', '23055340', '10', 'adenocarcinoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'EGFR status and KRAS/BRAF mutations in intestinal-type sinonasal adenocarcinomas..     ///    \"EGFR gene copy number gains and KRAS/BRAF mutations have been reported to act as positive and negative predictors, respectively, of therapeutic response to EGFR targeted therapies in colorectal adenocarcinoma, a tumour type claimed to be genetically similar to ITAC. \"'), ('1788', 'aromatase_P450', '', 'aromatase', 'P450', '12580790', '10', '', 'FISH ', '', '', '', '', '', '', '', ' Cytochrome P450-aromatase enzyme (CYP19), which catalyses the conversion of androgens to oestrogens, is critical in ovarian differentiation and hence in the sex differentiation pathways of non-mammalian vertebrates. '), ('1789', 'KIAA1549_BRAF', '', 'KIAA1549', 'BRAF', '26671581', '10', '', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'All PGNTs were negative for BRAF V600E and FGFR1 mutation, and KIAA1549-BRAF fusion.     ///    \"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. \"'), ('1790', 'TOF_PS', '', 'TOF', 'PS', '22161111', '10', 'pulmonary atresia', 'FISH ', '', '', '', '', '', '', '', 'The frequency of 22q11.2 deletion in patients with TOF-PA (3/9, 33.3%) is much higher than that of TOF-PS (4/59, 6.80%) (P< 0.05). '), ('1791', 'HER2_EGFR', '', 'HER2', 'EGFR', '21087480', '10', '', 'FISH ', 'Kinase', '', '', '', '', '', '', 'The effect on cell proliferation of different EGFR/HER2 pathway inhibitors as single agents or in combination with gemcitabine was investigated on BTC cell lines.     ///    Targeting EGFR/HER2 pathways enhances the antiproliferative effect of gemcitabine in biliary tract and gallbladder carcinomas.. '), ('1792', 'PGS_PGD', '', 'PGS', 'PGD', '20966461', '10', '', 'FISH ', '', '', '', '', '', '', '', 'This document should assist everyone interested in PGD/PGS in developing the best laboratory and clinical practice possible. '), ('1793', 'MEG3_DLK1', '', 'MEG3', 'DLK1', '25351781', '10', 'Silver-Russell syndrome', 'FISH', '', '', '', '', '', '', '', 'Pyrosequencing identified hypomethylation of the DLK1-MEG3 intergenic differentially methylated region (IG-DMR) and the MEG3-DMR in two cases. '), ('1794', 'CTNNB1_CDH1', '', 'CTNNB1', 'CDH1', '17471475', '10', 'mucinous carcinoma', 'FISH ', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'These cells, characterized by ITF and MUC2 production, show disruption of the E-cadherin/beta-catenin complex, as well as amplification of Bcl-2.. '), ('1795', 'KRAS_BRAF', '', 'KRAS', 'BRAF', '26690310', '10', 'colorectal cancer;gastric cancer\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', '', '', 'HER2-amplification/overexpression is identifiable by immunohistochemistry, occurring infrequently in stage II-III CRC, rising in stage IV and further in KRAS/BRAF WT tumours.     ///    KRAS/BRAF mutation status was assessed by pyrosequencing.     ///    \"HER2-overexpression was associated with KRAS/BRAF wild-type (WT) status at all stages: in 5.2% WT versus 1.0% mutated tumours (p < 0.0001) in stage IV and 2.1% versus 0.2% in stage II-III tumours (p = 0.01), respectively. \"    ///    \"We assessed HER2-amplification/overexpression in stage II-III and IV CRC patients, assessing relationships to KRAS/BRAF and outcome. \"'), ('1796', 'NTRK1_LMNA', '', 'NTRK1', 'LMNA', '26716414', '10', 'colon cancer\r\r', 'FISH ', 'Kinase', '', '', '', '', '', '', 'Here we identified recurrent LMNA-NTRK1 and TPM3-NTRK1 fusions in Korean patients with colon cancer (3 out of 147, 2%) through next-generation RNA sequencing (RNA-seq). '), ('1797', 'ETO_AML1', '', 'ETO', 'AML1', '23114127', '10', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', 'The AML1/ETO probe was used in 24 AML-M2b patients and all of them were evaluated as AML1/ETO positive. '), ('1798', 'BCR_ABL1', '', 'BCR', 'ABL1', '9694728', '10', 'leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'FISH analysis with BCR and ABL probes showed that some of the human cells engrafting after injection of CP cells lacked a BCR-ABL gene and were presumably normal. '), ('1799', 'VEGFR2_EGFR', '', 'VEGFR2', 'EGFR', '19776290', '10', 'thyroid carcinoma\r\r', 'FISH', 'Kinase', '', '', '', '', '', '', 'Since epidermal growth factor receptor (EGFR) seems to play a crucial role for RET activation, a key feature of MTCs, and several promising EGFR/vascular endothelial growth factor receptor 2 (VEGFR2)-targeted drugs have been developed, the present study was designed to investigate whether these proteins are altered in MTCs. '), ('1800', 'ERBB2_EGFR', '', 'ERBB2', 'EGFR', '18182111', '10', 'ovarian cancer', 'FISH', 'Kinase', 'Oncogene', '', '', '', '', '', 'EGFR/HER2-neu targeted therapies should be investigated prospectively and specifically in that subset of patients.. '), ('1801', 'SAPK_JNK', '', 'SAPK', 'JNK', '12186766', '10', '', 'FISH;PCR', '', '', '', '', '', '', '', 'The following studies indicated that LZK serves as a MAPKKK in the JNK/SAPK pathway in cells, and a scaffold protein, JIP-1, enhances LZK-induced JNK/SAPK pathway activation via physical association. '), ('1802', 'SPINK1_ERG', '', 'SPINK1', 'ERG', '23348902', '10', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', '', '', 'Further studies are required to understand the molecular heterogeneity of cases with concomitant ERG-SPINK1 expression.     ///    We developed two dual-color immunohistochemistry-based assays for the simultaneous assessment of ERG-PTEN and ERG-SPINK1 in prostate cancer.     ///    \"Of the 284 cases evaluated for ERG-SPINK1, 111 (39%) cases were positive for ERG. \"    ///    \"Automated dual ERG-PTEN and ERG-SPINK1 immunohistochemisty assays are simple, reliable and portable across study sites for the simultaneous assessment of these proteins in prostate cancer.. \"    ///    Novel dual-color immunohistochemical methods for detecting ERG-PTEN and ERG-SPINK1 status in prostate carcinoma..     ///    A total of 232 cases from 184 localized and 48 metastatic prostate cancers were evaluated for ERG-PTEN and 284 cases from 228 localized and 56 metastatic prostate cancers were evaluated for ERG-SPINK1. '), ('1803', 'VEGFR_VEGF', '', 'VEGFR', 'VEGF', '23085826', '10', '', 'FISH', '', '', '', '', '', '', '', 'Taken together, these results suggest that new vessel formation and the VEGF/VEGFR system are involved in aGVHD.. '), ('1804', 'PIWI_AGO', '', 'PIWI', 'AGO', '20490325', '10', 'breast cancer\r\r', 'FISH ', '', '', '', '', '', '', '', ' Piwil2, a member of AGO/PIWI family of proteins, has been reported to be expressed in precancerous stem cells (pCSCs), tumor cell lines and various types of human cancers. '), ('1805', 'IGF2_H19', '', 'IGF2', 'H19', '8634700', '10', '', 'FISH', '', '', '', '', '', '', '', ' Using a bromodeoxyuridine incorporation method to detect replicated DNA, we studied allele-specific replication of several sites within the human Prader-Willi/Angelman and IGF2/H19 imprinted regions. '), ('1806', 'TP53_MDM2', '', 'TP53', 'MDM2', '20461754', '10', 'colorectal cancer\r\r', 'FISH;PCR', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Several promising therapeutic strategies targeting the TP53-MDM2 system are being developed. '), ('1807', 'REC_FSH', '', 'REC', 'FSH', '15897980', '10', '', 'FISH ', '', '', '', '', '', '', '', 'The 33-year-old female partner of the male patient underwent an uncomplicated controlled ovarian hyperstimulation sequence using a combined recombinant-follicle stimulating hormone (rec-FSH) + human menopausal gonadotrophin (hMG) protocol, following late luteal phase pituitary down regulation. '), ('1808', 'PWCR_ANCR', '', 'PWCR', 'ANCR', '9894799', '10', '', 'FISH ', '', '', '', '', '', '', '', 'The second group also showed no duplication of the PWCR/ANCR loci. '), ('1809', 'MYC_GAPDH', '', 'MYC', 'GAPDH', '23155275', '10', '', 'FISH;PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Real-time q-PCR results showed that the calculated c-MYC/GAPDH ratios were higher in c-MYC-amplified MGC than in c-MYC-non-amplified MGC. '), ('1810', 'MIR16-1_MIR15a', '', 'MIR16-1', 'MIR15a', '18246537', '10', 'chronic lymphocytic leukemia;leukemia\r\r', 'FISH ', '', '', '', '', '', '', '', '2 samples involved whole chromosome 13 resulting in homozygous deletion of micro-RNA-15a (miR-15a)/miR-16-1. '), ('1811', 'TERC_SOX2', '', 'TERC', 'SOX2', '24410919', '10', 'squamous cell carcinoma\r\r', 'FISH', '', '', '', '', 'Transcription_Factor', '', '', 'The over representation of polyploidy and/or TERC/SOX2 amplification in tumour samples was statistically significant when compared to controls (p?=?0.01). '), ('1812', 'KRAS_EGFR', '', 'KRAS', 'EGFR', '19855375', '10', 'adenocarcinoma\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', '', '', 'Clinicopathological predictors of EGFR/KRAS mutational status in primary lung adenocarcinomas.. '), ('1813', 'PRB_CCND1', '', 'PRB', 'CCND1', '23225431', '10', 'retinoblastoma;ovarian cancer\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Defects of the retinoblastoma protein (pRb)/cyclin-D1/p16 pathway have been shown to play a critical role in the development of human malignancies. '), ('1814', 'NOS3_ATS', '', 'NOS3', 'ATS', '25926253', '10', 'adenocarcinoma\r\r', 'FISH;PCR', '', '', '', '', '', '', '', 'The ATS/ERS/IASLC proposed classification for lung adenocarcinomas supports the value of the identification of histological patterns, specifically in biopsies. '), ('1815', 'RET_PTC', '', 'RET', 'PTC', '9067436', '10', 'thyloid cancer\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'Its 5\' end was found fused to the catalytic domain of the RET protooncogene to generate RET/PTC 1, the most common form of PTC oncogenes in human papillary thyroid carcinoma. '), ('1816', 'PGD_IVF', '', 'PGD', 'IVF', '18266102', '10', '', 'FISH', '', '', '', '', '', '', '', 'Of the 12 (28%) patients with no euploid embryos available for transfer with the second IVF/PGD cycle, five had a third cycle of PGD and two of these had euploid embryos available for transfer.     ///    Cohort of IVF-PGD cycles in a tertiary care ART facility.     ///    \"Significant differences were found in terms of ongoing pregnancy (40%, P<0.05) and implantation rates (18%, P<0.05) in women with euploid embryos available for transfer with the first and second IVF/PGD cycles, compared to women with no euploid embryos available for transfer with either the first or second cycle. \"    ///    \"Of the six patients with no euploid embryos available after the second PGD cycle, four patients had a third IVF/PGD cycle, but none had euploid embryos available for transfer. \"'), ('1817', 'TOP2A_HER2', '', 'TOP2A', 'HER2', '25558650', '10', 'gastric cancer;adenocarcinoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Statistically significant associations were determined in detection of amplifications of 1) EGFR gene with chromosome 7 polysomy, 2) MET gene in nonpolysomic chromosome 7 nuclei, 3) HER2/TOP2A genes in nonpolysomic chromosome 17 nuclei, 4) coamplification of HER2/TOP2A in poorly differentiated carcinomas, and 5) AURK A gene in nonpolysomic chromosome 20 nuclei. ');
INSERT INTO `ChimerPub_dump` VALUES ('1818', 'EXT2_EXT1', '', 'EXT2', 'EXT1', '21499719', '10', 'multiple osteochondroma', 'FISH', '', '', '', '', '', '', '', 'Clinical and molecular studies of EXT1/EXT2 in Bulgaria..     ///    \" EXT1/EXT2-CDG (Multiple cartilagineous exostoses, hereditary multiple osteochondroma (MO). \"'), ('1819', 'MET_HGF', '', 'MET', 'HGF', '26791796', '10', 'adenocarcinoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', ' MET amplification, protein expression, and splice mutations at exon 14 are known to cause dysregulation of the MET/HGF pathway. '), ('1820', 'SGLT1_EGFR', '', 'SGLT1', 'EGFR', '27073724', '10', 'renal cell carcinoma', 'FISH', 'Kinase', '', '', '', '', '', '', 'These results might have important implications on therapeutic approaches to CCRCC, since the disruption of the interaction between EGFR/SGLT1, mediated by anti-EGFR antibodies and/or SGLT1 inhibitors, might constitute a novel therapeutic target for CCRCC treatment, and new clinical trials should be evaluated on the basis of this therapeutic proposal. '), ('1821', 'HER2_GSF', '', 'HER2', 'GSF', '11208826', '10', 'breast cancer\r\r', 'FISH ', '', '', '', '', '', '', '', 'HER-2/neu overexpression was studied on paraffin sections of 85 invasive breast cancers using a panel of five monoclonal (9G6, 3B5, CB11, TAB250, GSF-HER2) and two polyclonal antibodies (A8010, A0485) in addition to the HercepTest (DAKO, Glostrup, Denmark).     ///    \"HER-2/neu overexpression was demonstrated in 26% (9G6, TAB250, GSF-HER2), 27% (3B5, CB11), 33% (A8010) and 42% (A0485, HercepTest) of the tumors. \"'), ('1822', 'IL6_IL10', '', 'IL6', 'IL10', '25171275', '10', 'urinary bladder cancer', 'FISH ', '', '', '', '', '', '', '', 'During instillations, cytokines (IL-2, IL-8, IL-6/IL-10) were reported to be reliable to determine treatment response and efficacy. '), ('1823', 'BCR_ABL1', '', 'BCR', 'ABL1', '9707920', '10', '', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The presence of the molecular complex ABL-BCR was also demonstrated in CML. '), ('1824', 'PTD_MLL', '', 'PTD', 'MLL', '17452254', '10', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'MLL-PTD were detected in the two patients. '), ('1825', 'NEU_HER2', '', 'NEU', 'HER2', '18799188', '10', 'osteosarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Immunohistochemical expression of epidermal growth factor receptor (EGFR), human epidermal growth factor receptor 2 (HER2)/neu, c-kit, and p53 was analyzed in each case. '), ('1826', 'HPP_CFC', '', 'HPP', 'CFC', '9633904', '10', '', 'FISH', '', '', '', '', '', '', '', 'No HPP-CFC expansion could be observed for patient cells.     ///    \"BFU-E, HPP-CFC and LTC-IC were reduced for both patient CD34+ DR- and CD34+ DR+ subpopulations. \"'), ('1827', 'TNFAIP3_A20', '', 'TNFAIP3', 'A20', '23039325', '10', 'Hodgkin lymphoma', 'FISH', '', '', '', '', '', '', '', 'Deletion of the TNFAIP3/A20 gene detected by FICTION analysis in classical Hodgkin lymphoma.. '), ('1828', 'PIK3CA_AKT1', '', 'PIK3CA', 'AKT1', '22556379', '10', 'ovarian cancer\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Mutations of PIK3CA and amplification of PIK3CA/AKT2 or deletion of PTEN did not correlate with levels of p-AKT, p-p70S6K, and p-GSK3?. '), ('1829', 'PIK3CA_AKT2', '', 'PIK3CA', 'AKT2', '22556379', '10', 'ovarian cancer\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Mutations of PIK3CA and amplification of PIK3CA/AKT2 or deletion of PTEN did not correlate with levels of p-AKT, p-p70S6K, and p-GSK3?. '), ('1830', 'NEU_HER2', '', 'NEU', 'HER2', '18065409', '10', 'breast cancer\r\r', 'FISH', '', '', '', '', '', '', '', ' Clinical studies have demonstrated statistically significant reduction of breast cancer relapse and improved overall survival by adding trastuzumab for 1 year after adjuvant chemotherapy in human epidermal growth factor receptor-2 protein (HER2)/neu-positive breast cancer. '), ('1831', 'NEU_HER2', '', 'NEU', 'HER2', '23335522', '10', 'breast cancer\r\r', 'FISH', '', '', '', '', '', '', '', 'Estrogen receptor (ER) and progesterone receptor (PR) status and Her2/ neu expression were evaluated by immunohistochemical methods. '), ('1832', 'MMSET_FGFR3', '', 'MMSET', 'FGFR3', '17498561', '10', 'leukemia;multiple myeloma\r\r', 'FISH ', 'Kinase', '', '', '', '', '', '', 'Simultaneous translocations of FGFR3/MMSET and CCND1 into two different IGH alleles in multiple myeloma: lack of concurrent activation of both proto-oncogenes.. '), ('1833', 'XPF_ERCC1', '', 'XPF', 'ERCC1', '19214203', '10', '', 'FISH', '', '', '', '', 'Transcription_Factor', '', '', 'Our data thus indicate a protective role of ERCC1/XPF against 3\' G-strand overhang invasion of interstitial telomeric repeats.     ///    ERCC1/XPF protects short telomeres from homologous recombination in Arabidopsis thaliana.. '), ('1834', 'TKRS_MET', '', 'TKRS', 'MET', '21060307', '10', 'liposarcoma;sarcoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'The TKRs: MET, AXL, KIT, and IGF-1R were overexpressed in LPS cells vs normal adipocytes and pre-adipocytes. '), ('1835', 'NEU_HER2', '', 'NEU', 'HER2', '26110098', '10', 'breast cancer\r\r', 'FISH ', '', '', '', '', '', '', '', ' Optimization of workflow for breast cancer samples with equivocal human epidermal growth factor receptors 2 (HER2)/neu score 2(+) results in routine practice, remains to be a central focus of the on-going efforts to assess HER2 status. '), ('1836', 'HER2_HER1', '', 'HER2', 'HER1', '21327450', '10', 'meningitis', 'FISH', '', '', '', '', '', '', '', 'Objective response with lapatinib in patients with meningitis carcinomatosa derived from HER2/HER1-negative breast cancer.. '), ('1837', 'MDR1_ABCB1', '', 'MDR1', 'ABCB1', '18656688', '10', 'lung cancer\r\r', 'FISH ', '', '', '', '', '', '', '', ' The drug-resistant lung cancer cell line PTX250, which has been previously established by exposure to an anti-cancer drug paclitaxel, has an increased copy number in the MDR1/ABCB1 locus region. '), ('1838', 'TOP2A_HER2', '', 'TOP2A', 'HER2', '24292870', '10', 'breast cancer;breast carcinoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Although HER2 amplification has been postulated to predict anthracycline benefit, numerous reports have demonstrated that HER2/TOP2A co-amplification is the clinically useful predictive marker of response to anthracyclines. '), ('1839', 'DPYD_TS', '', 'DPYD', 'TS', '15604991', '10', 'breast cancer\r\r', 'FISH ', '', '', '', '', '', '', '', 'Evaluation of sensitivity to 5-FU on the basis of thymidylate synthase (TS)/dihydropyrimidine dehydrogenase (DPD) activity and chromosomal analysis in micro tissue specimens of breast cancer.. '), ('1840', 'CD4_CD123', '', 'CD4', 'CD123', '21923812', '10', '', 'FISH ', '', '', '', '', '', '', '', 'We report about a male patient who suffered from BPDCN with a typical histology and co-expression of CD4/CD123 and a CD56 expression by 80% of the tumour cells. '), ('1841', 'MYC_BCL2', '', 'MYC', 'BCL2', '25188094', '10', 'B cell lymphoma', 'FISH', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'However, BCL2/MYC double expression heralds a poor prognosis. '), ('1842', 'HCK_GNAS1', '', 'HCK', 'GNAS1', '9745664', '10', '', 'FISH ', 'Kinase', '', '', '', '', '', '', 'Established order was centromere-PRNP-(SOD1L/AVP/OXT)-(BL42/GNAS1)- HCK-CSSM30. '), ('1843', 'NAGK_MYCN', '', 'NAGK', 'MYCN', '18726105', '10', 'neuroblastoma\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Another case showed a slight increase in the MYCN gene dosage (3.65 < or == MYCN/NAGK < or == 4.82) in all LCM areas.     ///    \"Twelve of 54 block samples with no amplification of MYCN based on SB showed a slight increase of the MYCN gene dosage (3.56 > or == MYCN/NAGK > 1.84), and 8 of these 12 cases were in the advanced stage. \"'), ('1844', 'ETO_AML1', 't(8;21)  / t(8;21)(q22;q22) / t(8;21) / ', 'ETO', 'AML1', '18474302', '10', 'leukemia;hematologic malignancy\r\r', 'FISH ', '', '', '', '', '', '', '', 'Among these cases, complex variants involving chromosomes 8 and 21, as well as a third or fourth chromosome, account for approximately 6-10% of patients with an AML1/ETO chimeric gene, and about 100 variant cases with AML1/ETO fusion transcript have been reported in the literature. '), ('1845', 'CAMP_CAL', '', 'CAMP', 'CAL', '25919868', '10', 'thalassemia', 'FISH ', '', '', '', '', '', '', '', 'In patients with ??? phenotypes, other prevalent mutations were( _MED) and (_CAL/CAMP). '), ('1846', 'MTOR_AKT1', '', 'MTOR', 'AKT1', '27033068', '10', '', 'FISH', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The PTEN protein is ubiquitously expressed in the majority of human tissues, and allelic or complete loss of PTEN is frequently observed in different types of malignancies leading to an activation of the AKT/mTOR pathways. '), ('1847', 'TFE3_PRCC', '', 'TFE3', 'PRCC', '26975036', '10', 'renal cell carcinoma;alveolar soft part sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', 'KB', '', 'We corroborate prior data showing that the PRCC-TFE3 RCCs are the only known Xp11 translocation RCC molecular subtype that are consistently cathepsin K positive. '), ('1848', 'MAPK3_MAPK1', '', 'MAPK3', 'MAPK1', '21743435', '10', 'colorectal cancer\r\r', 'FISH ', 'Kinase', '', '', '', 'Transcription_Factor', '', '', 'P<0.001) and linked to more frequent BRAF mutation (P=0.015), overexpression of p-MAPK3/MAPK1 (P=0.012) and PLAU (P=0.048) and loss of metastasis suppressor protein PEBP1 (P=0.047).     ///    \"Mutation analysis of KRAS (codons 12 and 13) and BRAF (codon V600E) and immunohistochemistry for p-MAPK3/MAPK1, PEBP1, HMMR, p-AKT, PLAU, PLAUR, TP53 and VEGFA were performed on cohort 1. \"'), ('1849', 'CK7_CK4', '', 'CK7', 'CK4', '23611265', '10', 'Barrett\'s esophagus\r\r', 'FISH', '', '', '', '', '', '', '', 'The expression of CK7/CK4 and CK7/CK8 in BE showed positive correlation (P < 0.05). '), ('1850', 'MIB1_AURB', '', 'MIB1', 'AURB', '22688343', '10', 'breast carcinoma;breast carcinoma\r\r', 'FISH', '', '', '', '', '', '', '', 'Therefore, the Aurora B/MIB-1 index was used as a measure of expression, which showed a wide range (1-35%, mean 0.32, SD ?? 0.28). '), ('1851', 'MBL_CD5', '', 'MBL', 'CD5', '21876118', '10', 'chronic lymphocytic leukemia;leukemia\r\r', 'FISH', '', '', '', '', '', '', '', 'After a median follow-up of 34 months we reevaluated 76 low-count MBLs with 5-color flow cytometry: 90% of CLL-like MBL but only 44.4% atypical CLL and 66.7% CD5(-) MBL persisted over time. '), ('1852', 'PTEN_AKT1', '', 'PTEN', 'AKT1', '26672755', '10', 'breast cancer\r\r', 'FISH', 'Kinase', 'Oncogene', 'Tumor_suppressor', '', '', '', '', 'Remarkably the combined analysis of MYC, HER2, CCND1 and PTEN aberrations suggested that aberrations of multiple PTEN/AKT pathway genes have a strong additive effect on breast cancer prognosis.     ///    PTEN deletions were also strongly linked to amplification of genes involved in the PTEN/AKT pathway such as MYC (p=0.0430) and HER2 (p=0.0065). '), ('1853', 'ZFX_POLA', '', 'ZFX', 'POLA', '8020959', '10', '', 'FISH;PCR', '', '', '', '', '', '', '', 'Identification of YAC and cosmid clones encompassing the ZFX-POLA region using irradiation hybrid cell lines.. '), ('1854', 'P73L_P40', '', 'P73L', 'P40', '10805802', '10', 'squamous cell carcinoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Here we sought to examine the role of p40/p73L, two variants lacking the N-terminal transactivation domain, in cancer. '), ('1855', 'MET_HGF', '', 'MET', 'HGF', '21872356', '10', 'adenocarcinoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'Our results suggest that abnormality of the HGF/MET pathway occurs during the course of progression from non-invasive to invasive pulmonary adenocarcinoma.     ///    \" Signaling mediated by hepatocyte growth factor (HGF)/MET promotes multiple biological activities, including cell proliferation, motility, invasion, angiogenesis, and morphogenesis. \"    ///    Abnormality of the hepatocyte growth factor/MET pathway in pulmonary adenocarcinogenesis.. '), ('1856', 'CSE1_CAS', '', 'CSE1', 'CAS', '15513363', '10', 'colorectal cancer', 'FISH ', '', '', '', '', '', '', '', ' Amplification of 20q13 is a frequent chromosomal alteration in solid tumors and harbors a number of putative oncogenes (CAS/CSE1-L, NABC1, or Aurora2). '), ('1857', 'MAFB_MAF', '', 'MAFB', 'MAF', '21057542', '10', 'multiple myeloma', 'FISH ', '', '', '', '', 'Transcription_Factor', '', '', ' Dysregulation of cyclin D2 contributes to the pathogenesis of multiple myeloma, and can occur through translocations that activate MAF/MAFB or MMSET/FGFR3.     ///    \"Overexpression of ZKSCAN3 induced cyclin D2 promoter activity in a MAF/MAFB-independent manner, and to an extent that was influenced by the number of consensus ZKSCAN3 binding sites. \"'), ('1858', 'NOTCH1_FBXW7', '', 'NOTCH1', 'FBXW7', '23354995', '10', 'T ALL;lymphoblastic leukemia;leukemia\r\r', 'FISH', '', 'Oncogene', 'Tumor_suppressor', '', '', '', '', 'Eighteen patients (62?%) had NOTCH1/FBXW7 mutations. '), ('1859', 'BCR_ABL1', '', 'BCR', 'ABL1', '10640140', '10', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'A multicenter investigation with D-FISH BCR/ABL1 probes.. '), ('1860', 'MDM2_CDK4', '', 'MDM2', 'CDK4', '20228779', '10', 'liposarcoma;sarcoma\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'FISH analysis revealed a deletion of the Rb-1 gene in all six cases, whereas no MDM2/CDK4 amplification was identified in all cases tested. '), ('1861', 'ZFY_ZFX', '', 'ZFY', 'ZFX', '15481530', '10', '', 'FISH ', '', '', '', '', '', '', '', 'Thus, the cloned sequence encodes a homologue of mammalian ZFX/ZFY and was named Zfa for rice field eel zinc finger domain gene. '), ('1862', 'KIT_PDGFRA', '', 'KIT', 'PDGFRA', '21434524', '10', 'gastrointestinal stromal tumor\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', '', '', 'c-Kit/PDGFRA gene alterations affected 38% of all cases and 39% of primary tumors, with major changes accounting for 15% in both all the cases and primary tumors.     ///    The high rate of c-Kit/PDGFRA coexpression suggests that both receptors are involved in oncogenicity and may affect imatinib efficacy.     ///    Fluorescence in situ hybridization analysis and immunophenotyping of c-Kit/PDGFRA and Bcl-2 expression in gastrointestinal stromal tumors..     ///    \"Cytoplasmic KIT/PDGFRA coexpression was present in 96.5% of the c-Kit-mutated cases, 100% of the wt c-Kit/PDGFRA cases and 66.6% of the PDGFRA-mutated cases. \"    ///    \" To investigate c-Kit/PDGFRA genomic alterations, KIT-PDGFRA coexpression in gastrointestinal stromal tumors (GISTs) and the role of Bcl-2. \"'), ('1863', 'P53_P14', '', 'P53', 'P14', '21410763', '10', 'B cell lymphoma;retinoblastoma;lymphoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Regarding the p14/p53 axis, PCLBCL, LT showed a variable expression. '), ('1864', 'PIK3CA_AKT2', '', 'PIK3CA', 'AKT2', '16721043', '10', 'ovarian cancer\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', '', '', ' Sequence mutations and gene amplifications lead to activation of the PIK3CA-AKT2 signaling pathway and have been reported in several types of neoplasms including ovarian cancer. '), ('1865', 'PTEN_ERG', '', 'PTEN', 'ERG', '23348902', '10', 'prostate cancer\r\r', 'FISH ', '', '', 'Tumor_suppressor', '', '', '', '', 'A total of 232 cases from 184 localized and 48 metastatic prostate cancers were evaluated for ERG-PTEN and 284 cases from 228 localized and 56 metastatic prostate cancers were evaluated for ERG-SPINK1.     ///    \"Automated dual ERG-PTEN and ERG-SPINK1 immunohistochemisty assays are simple, reliable and portable across study sites for the simultaneous assessment of these proteins in prostate cancer.. \"    ///    We developed two dual-color immunohistochemistry-based assays for the simultaneous assessment of ERG-PTEN and ERG-SPINK1 in prostate cancer.     ///    Novel dual-color immunohistochemical methods for detecting ERG-PTEN and ERG-SPINK1 status in prostate carcinoma..     ///    \"Of the 232 cases evaluated for ERG-PTEN, 81 (35%) ERG-positive and 77 (33%) PTEN-deleted cases were identified. \"'), ('1866', 'MEK_AKT1', '', 'MEK', 'AKT1', '26690310', '10', 'colorectal cancer;gastric cancer\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', '', '', 'One suggested anti-EGFR resistance mechanism in colorectal cancer (CRC) is aberrant MEK-AKT pathway activation through HER2 up-regulation. '), ('1867', 'CLK1_COQ7', '', 'CLK1', 'COQ7', '10501970', '10', '', 'FISH;PCR;RT-PCR ', 'Kinase', '', '', '', '', '', '', 'In this study, RT-PCR and 5\' RACE were used to isolate both human and mouse clk-1/COQ7 homologs. '), ('1868', 'PTEN_PI3K', '', 'PTEN', 'PI3K', '26823817', '10', 'non Hodgkin lymphoma;B cell lymphoma;lymphoma\r\r', 'FISH', '', '', 'Tumor_suppressor', '', '', '', '', 'Regulation of PTEN/PI3K/AKT signal pathway participates in the progression of DLBCL, and may be involved in the development of the resistance to rituximab for some DLBCL patients..     ///    PTEN/PI3K/AKT signal pathway is constitutively activated and plays an oncogenic role in most tumors including non-Hodgkin\'s lymphoma (NHL).     ///    \"The aims of the present study are to determine the different levels of several important biomarkers of PTEN/PI3K/AKT pathway in DLBCL patients who are resistant or sensitive to rituximab treatment, and investigate the potential clinical application of these biomarkers. \"'), ('1869', 'TEN1_CTC1', '', 'TEN1', 'CTC1', '24025336', '10', '', 'FISH ', '', '', '', '', '', '', '', 'They also raise the possibility that TEN1 has additional roles and indicate that TEN1/CTC1-STN1-TEN1 helps solve a wide range of challenges to the replication machinery. '), ('1870', 'HGD_EAC', '', 'HGD', 'EAC', '25284618', '10', 'Barrett\'s esophagus', 'FISH ', '', '', '', '', '', '', '', 'For 91patients, the predictive value of TP53 abnormalities with respect to progression to HGD/EAC was tested after long term follow-up. '), ('1871', 'CD5_CD19', '', 'CD5', 'CD19', '12949897', '10', 'mantle cell lymphoma;lymphoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Flow cytometric analysis revealed that all cases of MCL showed CD19/CD5 staining, but the percentages of cells positive for CD23 and FMC-7 were variable, thus they cannot be depended upon for a definitive diagnosis of MCL. '), ('1872', 'TUPLE1_DGCR2', '', 'TUPLE1', 'DGCR2', '11807885', '10', 'velocardiofacial syndrome\r\r', 'FISH ', '', '', '', '', '', '', '', 'For DGS/VCFS, the primers used were DGCR2/TUPLE1 loci.     ///    \"Similarly, 6 of the 10 patients referred for DGS/VCFS showed deletion for the DGCR2/TUPLE1 loci on one chromosome 22. \"'), ('1873', 'BCR_ABL1', '', 'BCR', 'ABL1', '23355941', '10', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'BCR-ABL dependent mechanisms are most frequently associated with point mutations in tyrosine kinase domain (TKD) of BCR-ABL1 and also with BCR-ABL gene amplification. '), ('1874', 'MTOR_S6K ', '', 'MTOR', 'S6K ', '16467080', '10', 'lung cancer;adenocarcinoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Molecular context of the EGFR mutations: evidence for the activation of mTOR/S6K signaling.. '), ('1875', 'HER2_EGFR', '', 'HER2', 'EGFR', '23472669', '10', 'breast cancer', 'FISH', 'Kinase', '', '', '', '', '', '', ' Lapatinib, a dual HER2/EGFR tyrosine kinase inhibitor (TKI), associated to capecitabine represents the treatment of choice in HER2-positive metastatic breast cancer (BC) patients in progression after trastuzumab-based therapy. '), ('1876', 'FOXA2_AGS', '', 'FOXA2', 'AGS', '7873876', '10', 'alagille syndrome', 'FISH;PCR', '', '', '', '', 'Transcription_Factor', '', '', 'The NR2 hybrid allowed us to exclude three candidate genes for AGS: hepatic nuclear factor 3 beta (HNF3 beta), paired box 1 (PAX1), and cystatin C (CST3) as shown by their localization outside of the deletion. '), ('1877', 'PIK3CA_AKT1', '', 'PIK3CA', 'AKT1', '22675538', '10', 'thyroid carcinoma\r\r', 'FISH', 'Kinase', 'Oncogene', '', '', '', '', '', 'Data from genome-wide SNP arrays and flow cytometry were combined to determine the chromosomal dosage (allelic state) in these tumours, including mutation analysis of components of PIK3CA/AKT and MAPK pathways. '), ('1878', 'EIF2_PERK', '', 'EIF2', 'PERK', '24045183', '10', 'cervical cancer', 'FISH', '', '', '', '', '', '', '', 'Hypoxia is a potent activator of the PERK/eIF2? signaling pathway, a component of the unfolded protein response (UPR) and an important mediator of hypoxia tolerance and tumor growth.     ///    Hypoxic activation of the PERK/eIF2? arm of the unfolded protein response promotes metastasis through induction of LAMP3.. '), ('1879', 'ETV4_DDX5', '', 'ETV4', 'DDX5', '18794152', '7', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', '', '', 'A fluorescence in situ hybridization screen for E26 transformation-specific aberrations: identification of DDX5-ETV4 fusion protein in prostate cancer..     ///    \"Fourth, we identified a ubiquitously expressed, androgen-insensitive gene, DDX5, fused in frame with ETV4, leading to the expression of a DDX5-ETV4 fusion protein.. \"'), ('1880', 'EML4_ALK', '', 'EML4', 'ALK', '23201355', '7', 'non small cell lung cancer;B cell lymphoma;anaplastic large cell lymphoma;lung cancer;neuroblastoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'It is remarkable that the EML4-ALK fusion protein was discovered in 2007 and crizotinib was approved for the treatment of ALK-positive non-small cell lung cancer in 2011, which is a remarkably short timeframe in the overall scheme of drug discovery..    ///    The EML4-ALK fusion protein and four other ALK-fusion proteins play a fundamental role in the development in about 5% of non-small cell lung cancers.     ///    About 28% of the cases of crizotinib resistance are related to nearly a dozen different mutations of ALK in the EML4-ALK fusion protein.     ///    \"It is remarkable that the EML4-ALK fusion protein was discovered in 2007 and crizotinib was approved for the treatment of ALK-positive non-small cell lung cancer in 2011, which is a remarkably short timeframe in the overall scheme of drug discovery.. \"'), ('1881', 'RARA_PML', 't(5;17;15)(q11;q21;q22) / t(15;17)(q22;q21) / t(5;17;15)(q11;q12;q22) / t(15;17) / ', 'RARA', 'PML', '18558288', '6', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The two chimeric genes, PML/RARA and RARA/PML, are thought to play a role in leukemogenesis. '), ('1882', 'SLC34A2_ROS1', '', 'SLC34A2', 'ROS1', '22661537', '6', 'non small cell lung cancer;lung cancer\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'ROS1 fusion partners were determined by reverse transcriptase PCR identifying CD74-ROS1, SLC34A2-ROS1, and FIG-ROS1 fusions. '), ('1883', 'ROS1_CD74', '', 'ROS1', 'CD74', '22661537', '6', 'non small cell lung cancer;lung cancer\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', '', 'Seq', 'ROS1 fusion partners were determined by reverse transcriptase PCR identifying CD74-ROS1, SLC34A2-ROS1, and FIG-ROS1 fusions. '), ('1884', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '17637754', '6', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'The FISH assays detected separation of 5\' (labelled green) and 3\' (labelled red) ERG sequences, which is a consequence of the TMPRSS2-ERG fusion, and additionally identify interstitial deletion of genomic sequences between the tandemly located TMPRSS2 and ERG gene sequences on chromosome 21. '), ('1885', 'KIAA1549_BRAF', '', 'KIAA1549', 'BRAF', '24470550', '5', 'pilocytic astrocytoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Cases with available tissue were tested for BRAF-KIAA1549 fusion/duplication (B-K fusion) by fluorescence in situ hybridization and submitted for mutation profiling using the Sequenom mutation profiling panel.    ///    Cases with available tissue were tested for BRAF-KIAA1549 fusion/duplication (B-K fusion) by fluorescence in situ hybridization and submitted for mutation profiling using the Sequenom mutation profiling panel. '), ('1886', 'KIAA1549_BRAF', '', 'KIAA1549', 'BRAF', '25794445', '4', 'central nervous system tumors;oligodendroglioma;pilocytic astrocytoma', 'FISH;PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'PDGFRA amplification, BRAF gain, intragenic duplication of FGFR-TKD, and KIAA1549-BRAF fusion (validated by Sanger sequencing) were analyzed by real-time reverse transcription PCR.     ///    Oncogenic KIAA1549-BRAF fusion with activation of the MAPK/ERK pathway in pediatric oligodendrogliomas..     ///    \"Overall, this study highlights that pODGs can harbor the KIAA1549-BRAF fusion with aberrant MAPK/ERK signaling, and there exists an option of targeting these pathways in such patients. \"    ///    These results indicate that pODGs with the KIAA1549-BRAF fusion may represent a subset of this rare tumor that shares molecular and genetic features of pilocytic astrocytomas.     ///    \"Overall, this study highlights that pODGs can harbor the KIAA1549-BRAF fusion with aberrant MAPK/ERK signaling, and there exists an option of targeting these pathways in such patients.\"'), ('1887', 'COL1A1_PDGFB', '', 'COL1A1', 'PDGFB', '23108023', '4', 'dermatofibrosarcoma protuberans;sarcoma\r\r', 'FISH ', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'The diagnosis of FS-DFSP was confirmed molecularly by the demonstration of a COL1A1-PDGFB fusion by fluorescence in situ hybridization and reverse transcription-polymerase chain reaction analyses.    ///    The diagnosis of FS-DFSP was confirmed molecularly by the demonstration of a COL1A1-PDGFB fusion by fluorescence in situ hybridization and reverse transcription-polymerase chain reaction analyses. '), ('1888', 'EML4_ALK', '', 'EML4', 'ALK', '24346090', '4', 'non small cell lung cancer;lung cancer;adenocarc\r\r', 'FISH;PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Large-scale screening and molecular characterization of EML4-ALK fusion variants in archival non-small-cell lung cancer tumor specimens using quantitative reverse transcription polymerase chain reaction assays..     ///    \"This panel of variant-specific, quantitative RT-PCR assays detects common EML4-ALK+ variants as well as ALK gene expression level in archival formalin-fixed paraffin-embedded NSCLC specimens.\"    ///    ALK expression level varied significantly among different EML4-ALK+ variants and individual tumors. '), ('1889', 'TEL_AML1', '', 'TEL', 'AML1', '11435320', '0', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR ', '', '', '', '', '', '', '', 'The 2 leukemic triplets were monozygotic twins and shared an identical, acquired TEL-AML1 genomic fusion sequence indicative of a single-cell origin in utero in one fetus followed by dissemination of clonal progeny to the comonozygotic twin by intraplacental transfer.     ///    \"Leukemic cells in both twins had, in addition to TEL-AML1 fusion, a deletion of the normal, nonrearranged TEL allele. \"    ///    \"In accord with this interpretation, clonotypic TEL-AML1 fusion sequences could be amplified from the archived neonatal blood spots of the leukemic twins. \"'), ('1890', 'TMPRSS2_ETV1', '', 'TMPRSS2', 'ETV1', '16820092', '0', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'No TMPRSS2/ETV1 chimeric fusion was detected in this series. '), ('1891', 'PAX7_FOXO1', '', 'PAX7', 'FOXO1', '24517889', '0', 'ewing sarcoma', 'FISH;PCR;RT-PCR', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'We developed a next-generation sequencing-based assay designated ChildSeq-RNA that uses the Ion Torrent platform to screen for EWSR1-FLI1 and EWSR1-ERG, PAX3-FOXO1 and PAX7-FOXO1, EWSR1-WT1, and ETV6-NTRK3 fusions of Ewing sarcoma (ES), alveolar rhabdomyosarcoma, desmoplastic small round cell tumor, and congenital fibrosarcoma, respectively.    ///    \"We developed a next-generation sequencing-based assay designated ChildSeq-RNA that uses the Ion Torrent platform to screen for EWSR1-FLI1 and EWSR1-ERG, PAX3-FOXO1 and PAX7-FOXO1, EWSR1-WT1, and ETV6-NTRK3 fusions of Ewing sarcoma (ES), alveolar rhabdomyosarcoma, desmoplastic small round cell tumor, and congenital fibrosarcoma, respectively. \"'), ('1892', 'SLC45A3_ERG', '', 'SLC45A3', 'ERG', '24517914', '-1', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'This genetic aberration, most commonly leading to the TMPRSS2-ERG fusion, but also SLC45A3-ERG or NDRG1-ERG fusions, all leading to an overexpression of a truncated ERG protein.    ///    \"This genetic aberration, most commonly leading to the TMPRSS2-ERG fusion, but also SLC45A3-ERG or NDRG1-ERG fusions, all leading to an overexpression of a truncated ERG protein. \"'), ('1893', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '20442300', '-4', 'prostate cancer\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'There was no association between TMPRSS2:ERG fusion and prognosis, suggesting that TMPRSS2:ERG rearrangement does not implicate hormone dependence of the cancer. '), ('1894', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '20719821', '-5', 'adenocarcinoma;prostatic intraepithelial neoplasia\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'The largest of the classic p63-negative tumors showed a TMPRSS2-ERG translocation by fluorescent in situ hybridization while the p63-positive tumor did not. '), ('1895', 'PAX7_FKHR', '', 'PAX7', 'FKHR', '18788887', '-6', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Reverse transcription-polymerase chain reaction for PAX3/PAX7-FKHR fusion analysis had been done in all cases of ARMS, in 27 of 37 cases of ERMS, and in both URMS cases.     ///    \"of the 6 ARMS cases with PAX7-FKHR fusion, 3 of 6 (50%) were positive for ALK staining. \"'), ('1896', 'PPFIBP1_ALK', '', 'PPFIBP1', 'ALK', '21430068', '-6', 'lung cancer\r\r', 'FISH;PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The presence of PPFIBP1-ALK fusion was confirmed with reverse transcriptase PCR, genomic PCR, and FISH.     ///    \"Pulmonary inflammatory myofibroblastic tumor expressing a novel fusion, PPFIBP1-ALK: reappraisal of anti-ALK immunohistochemistry as a tool for novel ALK fusion identification.. \"    ///    We confirmed the transforming activities of PPFIBP1-ALK with a focus formation assay and an in vivo tumorigenicity assay by using 3T3 fibroblasts infected with a recombinant retrovirus encoding PPFIBP1-ALK. '), ('1897', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '18788887', '-10', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', '', '', 'Of the 21 ARMS cases with PAX3-FKHR fusion, 10 of 21 (48%) were positive for ALK staining. '), ('1898', 'TPM3_ALK', '', 'TPM3', 'ALK', '22252991', '-13', 'anaplastic large cell lymphoma;renal cell carcinoma;lung cancer;lymphoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Using 5\'- rapid amplification of complementary DNA ends, we detected TPM3-ALK and EML4-ALK in these tumors.    ///    \"Using 5\'- rapid amplification of complementary DNA ends, we detected TPM3-ALK and EML4-ALK in these tumors. \"'), ('1899', 'TPM3_ALK', '', 'TPM3', 'ALK', '16360423', '-13', '', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Inflammatory myofibroblastic tumor with ALK/TPM3 fusion presenting as ileocolic intussusception: an unusual presentation of an unusual neoplasm..     ///    \"We characterize this tumor through microscopic and ultrastructural analysis, extensive immunohistochemical analysis, ploidy analysis, and Epstein-Barr virus in situ hybridization, and we report the finding of an ALK/TPM3 fusion using fluorescence in situ hybridization.. \"    ///    \"We characterize this tumor through microscopic and ultrastructural analysis, extensive immunohistochemical analysis, ploidy analysis, and Epstein-Barr virus in situ hybridization, and we report the finding of an ALK/TPM3 fusion using fluorescence in situ hybridization..\"'), ('1900', 'EWSR1_CREB1', '', 'EWSR1', 'CREB1', '25134518', '-14', 'sarcoma\r\r', 'FISH;PCR', '', '', '', '', 'Transcription_Factor', 'KB', '', 'The EWSR1-CREB1 fusion transcript was detected in all cases by reverse-transcription PCR.     ///    Primary pulmonary myxoid sarcomas with EWSR1-CREB1 translocation might originate from primitive peribronchial mesenchymal cells undergoing (myo)fibroblastic differentiation.    ///    Primary pulmonary myxoid sarcomas with EWSR1-CREB1 translocation might originate from primitive peribronchial mesenchymal cells undergoing (myo)fibroblastic differentiation..     ///     Primary pulmonary myxoid sarcoma (PPMS) is a very rare lung tumor that has recently been shown to harbor an EWSR1-CREB1 translocation. '), ('1901', 'CLTC_ALK', '', 'CLTC', 'ALK', '12920229', '-18', 'B cell lymphoma;lymphoma\r\r', 'FISH ', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'As 2;17 translocation resulting in the fusion of clathrin heavy chain (CLTC) gene with ALK was previously reported in inflammatory myofibroblastic tumor, we performed reverse transcriptase-polymerase chain reaction and demonstrated that the lymphoma cells contained CLTC-ALK fusion transcript.     ///    \"As 2;17 translocation resulting in the fusion of clathrin heavy chain (CLTC) gene with ALK was previously reported in inflammatory myofibroblastic tumor, we performed reverse transcriptase-polymerase chain reaction and demonstrated that the lymphoma cells contained CLTC-ALK fusion transcript.\"'), ('1902', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '25563374', '-20', 'prostate cancer\r\r', 'FISH', '', '', '', '', '', 'KB', 'Seq', 'We present recent findings on?PCA3?and TMPRSS:ERG fusion and assessed the relationship between PSA, urine?PCA3?and TMPRSS2:ERG and corelation with pathological findings.    ///    \"We present recent findings on?PCA3?and TMPRSS:ERG fusion and assessed the relationship between PSA, urine?PCA3?and TMPRSS2:ERG and corelation with pathological findings. \"    ///    TMPRSS2:ERG gene was correllated with the Gleason score.     ///    We also examined the TMPRSS2:ERG gene in patients who had positive biopsy.     ///    Neither the TMPRSS2:ERG (p=0.13) nor the MSMB (p=0.556) genotype had an influence on the value of the Gleason score. '), ('1903', 'SSX2_SS18', 'p11.2;q11.2 / ', 'SSX2', 'SS18', '17471153', '-29', 'synovial sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', 'KB', 'Seq', 'Digoxigenin-labeled cRNA probes flanking the fusion points of SS18-SSX1 and SS18-SSX2 were generated by in vitro transcription, and hybridized signals were detected by a streptavidin-biotin complex method after chemical enhancement with BT. '), ('1904', 'SSX1_SS18', 'p11.2;q11.2 / ', 'SSX1', 'SS18', '17471153', '-29', 'synovial sarcoma;sarcoma\r\r', 'FISH ', '', '', '', '', '', 'KB', '', 'Digoxigenin-labeled cRNA probes flanking the fusion points of SS18-SSX1 and SS18-SSX2 were generated by in vitro transcription, and hybridized signals were detected by a streptavidin-biotin complex method after chemical enhancement with BT. '), ('1905', 'EWSR1_CREB1', '', 'EWSR1', 'CREB1', '21997693', '-34', 'chondrosarcoma', 'FISH ', '', '', '', '', 'Transcription_Factor', 'KB', '', 'Of 9 tumors, 7 were shown to harbor a specific EWSR1-CREB1 fusion by reverse transcription-polymerase chain reaction and direct sequencing, with 7 of 10 showing EWSR1 rearrangement by fluorescence in situ hybridization.     ///    Primary pulmonary myxoid sarcoma with EWSR1-CREB1 fusion: a new tumor entity.    ///    Primary pulmonary myxoid sarcoma with EWSR1-CREB1 fusion: a new tumor entity.. '), ('1906', 'CLTC_ALK', '', 'CLTC', 'ALK', '21855232', '-35', 'plasma cell myeloma', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'ALK-positive extramedullary plasmacytoma with expression of the CLTC-ALK fusion transcript..     ///    Both RT-PCR and genomic DNA-PCR confirmed the CLTC-ALK fusion.    ///    Both RT-PCR and genomic DNA-PCR confirmed the CLTC-ALK fusion. '), ('1907', 'ATIC_ALK', '', 'ATIC', 'ALK', '25501114', '-35', 'acute myeloid leukemia;anaplastic large cell lymphoma;myeloid leukemia;leukemia;lymphoma\r\r', 'FISH;PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'We subsequently confirmed ATIC-ALK and TRAF1-ALK fusions by reverse transcriptase PCR and nucleotide sequencing.    ///    We subsequently confirmed ATIC-ALK and TRAF1-ALK fusions by reverse transcriptase PCR and nucleotide sequencing. '), ('1908', 'RUNX1_CBFA2T1', 't(8;21)  / ', 'RUNX1', 'CBFA2T1', '20958258', '306', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Among them CBFA2T2, a member of the \"ETO\" family, is known because of its homology and association with the product of RUNX1-CBFA2T1 gene fusion generated by t(8;21) translocation, one frequent cause of acute myeloid leukemia.. '), ('1909', 'TEC_EWS', 't(9;22)  / ', 'TEC', 'EWS', '10359536', '296', 'chondrosarcoma;sarcoma\r\r', '', 'Kinase', '', '', '', '', '', '', ' The EWS/TEC gene fusion generated by the t(9;22) chromosomal translocation found in extraskeletal myxoid chondrosarcomas encodes a fusion protein containing the amino-terminal domain of the EWS protein fused to the whole coding sequence of the orphan nuclear receptor TEC.     ///    The EWS/TEC fusion protein encoded by the t(9;22) chromosomal translocation in human chondrosarcomas is a highly potent transcriptional activator..     ///    EWS/TEC may thus exert its oncogenic potential in chrondrosarcomas by activating the transcription of target genes involved in cell proliferation..     ///    \"Co-transfection experiments of COS cells and human chondrocytes indicate that whereas TEC moderately activates transcription from a NBRE-containing promoter, the corresponding EWS/TEC fusion protein is a highly potent transcriptional activator of the same promoter, being approximately 270-fold more active than the native receptor. \"    ///    We have compared the DNA-binding and transcriptional activation properties of various TEC isoforms and the corresponding EWS/TEC fusion proteins. '), ('1910', 'MLLT3_MLL', 't(9;11) (p22;q23) / ', 'MLLT3', 'MLL', '25843568', '276', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', 'Oncogene', '', '', '', '', 'Seq', 'The mixed-lineage leukemia gene translocated to, 3 (MLLT3) gene (9p22) is a frequent MLL-r partner (?18% of leukemias with MLL rearrangement) and is characterized by the translocation t(9;11) (p22;q23), forming an MLL-MLLT3 gene fusion.     ///    Molecular studies reveal a MLL-MLLT3 gene fusion displaced in a case of childhood acute lymphoblastic leukemia with complex karyotype..     ///    \"At the genome level, however, the MLL-MLLT3 three-way translocation still displayed both reciprocal fusion transcripts. \"'), ('1911', 'NFIB_MYBL1', 't(6;9)  / t(6;9) / t(8;9)  / ', 'NFIB', 'MYBL1', '26631609', '265', 'adenoid cystic carcinoma', '', '', '', '', '', '', '', '', 'We identified a novel MYBL1-NFIB gene fusion as a result of t(8;9) translocation and multiple rearrangements in the MYBL1 gene in 35% of the t(6;9)-negative ACCs.     ///    Novel MYBL1 Gene Rearrangements with Recurrent MYBL1-NFIB Fusions in Salivary Adenoid Cystic Carcinomas Lacking t(6;9) Translocations.. '), ('1912', 'NFIB_MYB', 't(6;9)  / t(6;9) / t(8;9)  / ', 'NFIB', 'MYB', '26631609', '261', 'adenoid cystic carcinoma', '', '', '', '', '', '', 'KB', '', ' Adenoid cystic carcinoma (ACC) is an indolent salivary gland malignancy, characterized by t(6;9) translocations and MYB-NFIB gene fusions in approximately 50% of the tumors.     ///    The genetic alterations underlying t(6;9)-negative and t(6;9)-positive/MYB-NFIB fusion-negative ACC remain unknown. '), ('1913', 'TEL_AML1', 't(12;21)  / t(12;21) (p13;q22) / t(12;21) / t(1;19) / ', 'TEL', 'AML1', '15217836', '261', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The t(12;21) (p13;q22) translocation resulting in ETV6/RUNX1 (previously named TEL/AML1) gene fusion is present in about 25% of children with precursor B-lineage acute lymphoblastic leukemia (B-ALL).     ///    High throughput techniques should now be used to elucidate the cellular mechanisms by which ETV6/RUNX1 gene fusion is linked to increased sensitivity to these drugs..     ///    \"22), t(1;19), or 11q23 rearrangement, the ETV6/RUNX1(+) samples remained significantly more sensitive to doxorubicin (P = .001) and etoposide (P = .001). \"    ///    \"The ETV6/RUNX1(+) samples were significantly more sensitive than ETV6/RUNX1(-) samples to doxorubicin, etoposide, amsacrine, and dexamethasone, whereas the opposite was true for cytarabine. \"'), ('1914', 'MLLT10_MLL', 'del(10)(p12) / ', 'MLLT10', 'MLL', '22261229', '255', 'leukemia\r\r', '', '', '', '', '', '', 'KB', '', 'A rare cryptic and complex rearrangement leading to MLL-MLLT10 gene fusion masked by del(10)(p12) in a child with acute monoblastic leukemia (AML-M5).. '), ('1915', 'NCOA2_MOZ', 'inv(8)  / inv(8)(p11q13) / inv(8) / ', 'NCOA2', 'MOZ', '12964013', '255', 'leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'A further case of acute myelomonocytic leukemia with inv(8) chromosomal rearrangement and MOZ-NCOA2 gene fusion..     ///    \"As seen in the previous cases, the inv(8)(p11q13) molecular characterization showed that the alteration results in a MOZ-NCOA2 gene fusion. \"'), ('1916', 'PAX3_FKHR', 't(6;11) / t(2;13)  / t(1;13) / t(6;11)(q27;q13) / ', 'PAX3', 'FKHR', '17097083', '254', 'rhabdomyosarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', ' Cytogenetic and molecular studies have shown that approximately 80% of cases of alveolar rhabdomyosarcoma (ARMS) have consistent chromosomal translocation of either t(2;13) or t(1;13), resulting in either PAX3-FKHR or PAX7-FKHR gene fusions. '), ('1917', 'PAX7_FKHR', 't(6;11) / t(2;13)  / t(1;13) / t(6;11)(q27;q13) / ', 'PAX7', 'FKHR', '17097083', '254', 'rhabdomyosarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', ' Cytogenetic and molecular studies have shown that approximately 80% of cases of alveolar rhabdomyosarcoma (ARMS) have consistent chromosomal translocation of either t(2;13) or t(1;13), resulting in either PAX3-FKHR or PAX7-FKHR gene fusions. '), ('1918', 'NTRK3_ETV6', 't(12;15)(p13;q25) / ', 'NTRK3', 'ETV6', '11242790', '249', 'spindle cell sarcoma', 'PCR;RT-PCR', 'Kinase', '', '', '', '', 'KB', 'Seq', 'CIFSs have been found to have a novel recurrent reciprocal translocation t(12;15)(p13;q25) resulting in the gene fusion ETV6-NTRK3 (ETS variant gene 6. '), ('1919', 'EWSR1_ATF1', 't(12;22)(q13;q12) / / ', 'EWSR1', 'ATF1', '22421295', '249', 'clear cell sarcoma;melanoma;sarcoma\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'It harbors a unique EWSR1-ATF1 gene fusion secondary to a t(12;22)(q13;q12) translocation.    ///    It harbors a unique EWSR1-ATF1 gene fusion secondary to a t(12;22)(q13;q12) translocation. '), ('1920', 'MECT1_MAML2', 't(11;19)(q21;p13) / ', 'MECT1', 'MAML2', '16818685', '249', 'mucoepidermoid carcinoma\r\r', 'PCR', '', '', '', '', '', '', '', 'Mucoepidermoid carcinoma translocated gene 1-mastermind-like gene family (MECT1-MAML2) gene fusion was identified from a recurring t(11;19)(q21;p13) translocation, which is often the sole cytogenetic alteration in this disease.     ///    \"Mucoepidermoid carcinoma translocated gene 1-mastermind-like gene family (MECT1-MAML2) gene fusion was identified from a recurring t(11;19)(q21;p13) translocation, which is often the sole cytogenetic alteration in this disease.\"    ///    The MECT1-MAML2 fusion transcript was detected in 27 of the 71 (38%) mucoepidermoid carcinoma cases but not in any case of nonmucoepidermoid carcinoma tumors.     ///    Detection of the MECT1-MAML2 fusion transcript was associated with a less advanced clinical stage and a low-grade tumor histology.     ///    \"The MECT1-MAML2 fusion transcript was detected by a reverse transcription-PCR assay, which can be applied to both histologic and cytologic specimens. \"    ///    MECT1-MAML2 fusion transcript defines a favorable subset of mucoepidermoid carcinoma..     ///    The MECT1-MAML2 fusion transcript may be specific to mucoepidermoid carcinoma and associated with a distinct mucoepidermoid carcinoma subset that exhibits favorable clinicopathologic features and an indolent clinical course.. '), ('1921', 'TFE3_ASPL', 'p11.2;q25 / ', 'TFE3', 'ASPL', '17149613', '249', 'renal cell carcinoma\r\r', '', '', '', '', '', '', '', '', ' Pediatric renal cell carcinoma (RCC) associated with ASPL-TFE3 gene fusion resulting from balanced translocation, t(X;17)(p11.2;q25), is a distinctive tumor entity.     ///    \"Final diagnosis is established based on the characteristic microscopic features, strong nuclear TFE-3 immunoreactivity, and the presence of type 1 TFE3-ASPL fusion gene detected by reverse transcriptasepolymerase chain reactions. \"'), ('1922', 'NTRK3_ETV6', 't(12;15)(p13;q25) / ', 'NTRK3', 'ETV6', '10895816', '249', 'myofibromatosis', 'PCR;RT-PCR', 'Kinase', '', '', '', '', 'KB', 'Seq', 'The authors recently identified a novel chromosomal translocation in CFS, t(12;15)(p13;q25), which gives rise to an ETV6-NTRK3 gene fusion.     ///    \"Of the 11 cases diagnosed as CFS, 10 showed the ETV6-NTRK3 gene fusion, whereas none of the 51 other malignant or benign spindle cell tumors demonstrated this fusion gene. \"    ///    \"To confirm the use of this assay in the differential diagnosis of CFS, they have screened a larger series of childhood pediatric spindle cell lesions for ETV6-NTRK3 gene fusions, including 11 cases of CFS, 13 malignant spindle cell tumors (including ATFS), and 38 benign spindle cell tumors (including IFB and MFB). \"    ///    \"They conclude that RT-PCR analysis is superior to these techniques for the detection of the ETV6-NTRK3 gene fusion in pediatric spindle cell tumors, and it is a reliable and specific modality for the diagnosis of CFS.. \"    ///    Molecular detection of the ETV6-NTRK3 gene fusion differentiates congenital fibrosarcoma from other childhood spindle cell tumors..     ///    \"They conclude that RT-PCR analysis is superior to these techniques for the detection of the ETV6-NTRK3 gene fusion in pediatric spindle cell tumors, and it is a reliable and specific modality for the diagnosis of CFS..\"    ///    They also compared their RT-PCR findings with those of conventional cytogenetics and with immunohistochemical detection of the ETV6-NTRK3 protein using antisera to NTRK3. '), ('1923', 'TFE3_PRCC', 'p11.2;q21 / ', 'TFE3', 'PRCC', '16807766', '249', 'renal cell carcinoma\r\r', '', '', '', '', '', '', 'KB', '', 'Chromosomal analysis disclosed a t(X;1)(p11.2;q21) translocation, which is known to result in a PRCC-TFE3 gene fusion.     ///    \"Recently, a unique translocation between the X chromosome and chromosome 1 or t(X;1) has been described in several reports of renal cell carcinomas (RCCs) diagnosed in children and adolescents that results in PRCC-TFE3 gene fusion. \"    ///    PRCC-TFE3 renal cell carcinoma in a boy with a history of contralateral mesoblastic nephroma.. '), ('1924', 'JJAZ1_JAZF1', 't(7;17)  / ', 'JJAZ1', 'JAZF1', '26838781', '249', 'smooth muscle tumor', '', '', '', '', '', '', '', '', 'Genomic analysis techniques have revealed important genetic aberrations such as the t(7;17) translocation, resulting in JAZF1-JJAZ1 gene fusion, characteristic of endometrial stromal tumors. '), ('1925', 'RUNX1_ETV6', 't(12;21)(p13;q22) / 8p21.3 / 11p11.2 / ', 'RUNX1', 'ETV6', '22076464', '249', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'We performed a genome-wide association study of 355?750 single-nucleotide polymorphisms (SNPs) in 474 controls and 419 childhood ALL cases characterized by a t(12;21)(p13;q22) - the most common chromosomal translocation observed in childhood ALL - which leads to an ETV6-RUNX1 gene fusion. '), ('1926', 'EWS_CHN', 't(9;17) / t(9;22)(q22;q12) / ', 'EWS', 'CHN', '10895826', '249', 'chondrosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Genetic investigations showed the recently described novel translocation t(9;17)(q22;q11.2) and associated fusion of the CHN and RBP56 genes, contrasting with the translocation t(9;22)(q22;q12) and EWS/CHN gene fusion found in the majority of EMCs.. '), ('1927', 'NTRK3_ETV6', 't(12;15)  / ', 'NTRK3', 'ETV6', '19629465', '247', 'pseudoaneurysm', 'PCR;RT-PCR', 'Kinase', '', '', '', '', 'KB', 'Seq', 'The cellular tumors shared histopathologic features with infantile fibrosarcoma (IFS), and RT-PCR testing in two children with the cellular form revealed the t(12;15) ETV6-NTRK3 gene fusion common to IFS. '), ('1928', 'TEL_AML1', 't(12;21)  / ', 'TEL', 'AML1', '12526921', '247', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The TEL-AML1 gene fusion results from a karyotypically cryptic t(12;21) translocation, the most common genetic abnormality in pediatric acute lymphoblastic leukemia (ALL).     ///    We demonstrate that the TEL-AML1 translocation can occur in vivo during B-cell development before rearrangement of the IgH and TCR genes.     ///    \"The presence of the TEL-AML1 fusion in utero, its protracted latency to overt leukemia, and secondary loss of the untranslocated TEL suggest it is an initiating event. \"    ///    TEL-AML1 fusion precedes differentiation to pre-B cells in childhood acute lymphoblastic leukemia..     ///    Sequences of the TEL-AML1 genomic breakpoint and the immunoglobulin heavy chain (IgH) and/or T-cell receptor (TCR) gene rearrangements were characterized in four pediatric pre-B ALL patients.     ///    \"Analysis of these markers in relapsed patients revealed that immunophenotypically and cytogenetically distinct, and clonally unrelated antigen receptor leukemic cell populations harbored the same initiating TEL-AML1 molecular abnormality. \"'), ('1929', 'PDGFRB_ETV6', 't(5;12)  / ', 'PDGFRB', 'ETV6', '25599554', '246', 'hypereosinophilic syndrome\r\r', 'PCR;RT-PCR', 'Kinase', '', '', 'Receptor', '', 'KB', '', 'RT-PCR of the aspirate revealed the presence of transcripts of ETV6/PDGFR-beta t(5;12) gene fusion.     ///    This patient was diagnosed with a rare myeloproliferative variant of hypereosinophilic syndrome due to a t(5;12) ETV6/PDGFR-beta translocation.     ///    Hypereosinophilic syndrome due to ETV6/PDGFR-beta gene translocation - a diagnostic and therapeutic challenge.. '), ('1930', 'MYST4_CBP', 't(10;16)  / t(10;16)(q22;p13) / t(11;17)(q23;q21) / ', 'MYST4', 'CBP', '15147375', '246', '', '', '', '', '', '', '', '', '', 'Variant MYST4-CBP gene fusion in a t(10;16) acute myeloid leukaemia..     ///    \"The t(10;16)(q22;p13) resulted in a rearrangement, where MYST4-CBP and CBP-MYST4 chimaeric transcripts were products of in-frame fusions of MYST4 exon 17 to CBP exon 6 and CBP exon 4 to MYST4 exon 18 respectively. \"'), ('1931', 'PAX3_FKHR', 't(2;13)  / t(1;13)  / ', 'PAX3', 'FKHR', '12039929', '244', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Most ARMS patients express PAX3-FKHR or PAX7-FKHR gene fusions resulting from t(2;13) or t(1;13) translocations, respectively.     ///    PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from the children\'s oncology group..     ///    \"PAX3-FKHR and PAX7-FKHR fusion transcripts were detected in 55% and 22% of ARMS patients, respectively. \"    ///    \"Not only are PAX-FKHR fusion transcripts specific for ARMS, but expression of PAX3-FKHR and PAX7-FKHR identifies a very high-risk subgroup and a favorable outcome subgroup, respectively, among patients presenting with metastatic ARMS.. \"    ///    \"We determined PAX3-FKHR or PAX7-FKHR fusion status in 171 childhood rhabdomyosarcoma (RMS) patients entered onto the Intergroup Rhabdomyosarcoma Study IV, including 78 ARMS patients, using established reverse transcriptase polymerase chain reaction assays. \"    ///    \"However, in patients presenting with metastatic disease, there was a striking difference in outcome between PAX7-FKHR and PAX3-FKHR patient groups (estimated 4-year overall survival rate of 75% for PAX7-FKHR v 8% for PAX3-FKHR. \"    ///    Multivariate analysis demonstrated a significantly increased risk of failure (P =.025) and death (P =.019) in patients with metastatic disease if their tumors expressed PAX3-FKHR. '), ('1932', 'PAX7_FKHR', 't(2;13)  / t(1;13)  / ', 'PAX7', 'FKHR', '12039929', '244', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Most ARMS patients express PAX3-FKHR or PAX7-FKHR gene fusions resulting from t(2;13) or t(1;13) translocations, respectively.     ///    PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from the children\'s oncology group..     ///    \"PAX3-FKHR and PAX7-FKHR fusion transcripts were detected in 55% and 22% of ARMS patients, respectively. \"    ///    \"Not only are PAX-FKHR fusion transcripts specific for ARMS, but expression of PAX3-FKHR and PAX7-FKHR identifies a very high-risk subgroup and a favorable outcome subgroup, respectively, among patients presenting with metastatic ARMS.. \"    ///    \"We determined PAX3-FKHR or PAX7-FKHR fusion status in 171 childhood rhabdomyosarcoma (RMS) patients entered onto the Intergroup Rhabdomyosarcoma Study IV, including 78 ARMS patients, using established reverse transcriptase polymerase chain reaction assays. \"    ///    \"However, in patients presenting with metastatic disease, there was a striking difference in outcome between PAX7-FKHR and PAX3-FKHR patient groups (estimated 4-year overall survival rate of 75% for PAX7-FKHR v 8% for PAX3-FKHR. \"'), ('1933', 'EWS_ERG', 't(11;22)(q24;q12) / t(21;22)(q22;q12) / ', 'EWS', 'ERG', '9496833', '244', 'neuroectodermal tumor', '', '', '', '', '', '', '', '', ' Ewing sarcoma and other peripheral primitive neuroectodermal tumors (pPNETs) display limited neural differentiation and are thought to have a neural crest origin Greater than 95% of these tumors share common t(11;22)(q24;q12) ort(21;22)(q22;q12) chromosomal translocations leading to ES/FLI1 or EWS/ERG gene fusions, respectively. '), ('1934', 'NFIB_MYB', 't(6;9)  / ', 'NFIB', 'MYB', '21976542', '243', 'adenoid cystic carcinoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', '', 'We conclude that: (i) t(6;9) results in complex genetic and molecular alterations in ACC, (ii) MYB-NFIB gene fusion may not always be associated with chimeric transcript formation, (iii) noncanonical MYB-NFIB gene fusions occur in a subset of tumors, (iv) high MYB expression correlates with worse patient survival..     ///    \"Overall, MYB-NFIB gene fusion rate by FISH was in 52.9% whereas fusion transcript forming incidence was 38.2%. \"    ///    \"Novel chromosomal rearrangements and break points at the t(6;9) in salivary adenoid cystic carcinoma: association with MYB-NFIB chimeric fusion, MYB expression, and clinical outcome.. \"'), ('1935', 'TORC1_MAML2', 't(11;19) / t(11;19)(q21;p13) / t(11;19)  / ', 'TORC1', 'MAML2', '15729701', '242', 'mucoepidermoid carcinoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Clear cell hidradenoma of the skin-a third tumor type with a t(11;19)--associated TORC1-MAML2 gene fusion..     ///    RT-PCR analysis of a clear cell hidradenoma with a t(11;19)(q21;p13) translocation revealed expression of a TORC1-MAML2 fusion transcript consisting of exon 1 of TORC1 fused to exons 2-5 of MAML2. '), ('1936', 'TFE3_CLTC', 'p11.2;q23 / ', 'TFE3', 'CLTC', '12917640', '242', 'anaplastic large cell lymphoma;adenocarcinoma;lymphoma\r\r', '', '', '', '', '', '', 'KB', '', 'We report the cloning of a novel clathrin heavy-chain gene (CLTC)-TFE3 gene fusion resulting from a t(X;17)(p11.2;q23) in a renal carcinoma arising in a 14-year-old boy.     ///    A novel CLTC-TFE3 gene fusion in pediatric renal adenocarcinoma with t(X;17)(p11.2;q23)..     ///    \"The predicted CLTC-TFE3 product retains the nuclear localization and DNA-binding domains of TFE3, but lacks the multimerization domain of CLTC. \"'), ('1937', 'TFE3_PSF', 't(6;11)(p21;q12) / p11;q21 / p11;q25 / p11;q23 / ', 'TFE3', 'PSF', '19396149', '242', 'renal cell carcinoma', '', '', '', '', '', '', '', '', 'three cases t(X;1)(p11;p34) resulting in a PSF-TFE3 gene fusion, one t(X;17)(p11;q25) resulting in an ASPL-TFE3 gene fusion, and one t(X;3)(p11;q23) with an unknown TFE3 gene fusion. '), ('1938', 'TFE3_PRCC', 't(6;11)(p21;q12) / p11;q21 / p11;q25 / p11;q23 / ', 'TFE3', 'PRCC', '19396149', '242', 'renal cell carcinoma', '', '', '', '', '', '', 'KB', '', 'five cases t(X;1)(p11;q21) resulting in a PRCC-TFE3 gene fusion. '), ('1939', 'HOX_NUP98', 't(11;12)(p15;q13) / t(11;12) / ', 'HOX', 'NUP98', '12461755', '242', 'acute myeloid leukemia;myeloid leukemia;leukemia;hematologic malignancy\r\r', 'PCR;ISH', '', '', '', '', '', '', '', 'The present results, together with previous studies of NUP98/homeobox gene fusions, strongly indicate that NUP98/HOXC13 is of pathogenetic importance in t(11;12)-positive acute myeloid leukemia.. '), ('1940', 'TFE3_ASPL', 't(6;11)(p21;q12) / p11;q21 / p11;q25 / p11;q23 / ', 'TFE3', 'ASPL', '19396149', '242', 'renal cell carcinoma', '', '', '', '', '', '', '', '', 'three cases t(X;1)(p11;p34) resulting in a PSF-TFE3 gene fusion, one t(X;17)(p11;q25) resulting in an ASPL-TFE3 gene fusion, and one t(X;3)(p11;q23) with an unknown TFE3 gene fusion. '), ('1941', 'TEL_AML1', 't(12;21)  / ', 'TEL', 'AML1', '14574333', '241', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', ' The t(12;21) translocation resulting in the TEL-AML1 gene fusion is found in 25% of childhood B-cell precursor (BCP) acute lymphoblastic leukemias (ALL).     ///    \"As a control group, 174 childhood BCP ALL without a TEL-AML1 were used. \"'), ('1942', 'TRKC_TEL', 't(12;15)(p13;q25) / ', 'TRKC', 'TEL', '15826836', '240', 'breast carcinoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' The ETV6-NTRK3 (TEL-TRKC) gene fusion was discovered by breakpoint analysis of the t(12;15)(p13;q25) translocation associated with congenital fibrosarcoma, a pediatric soft tissue malignancy.     ///    ETV6-NTRK3 (EN) encodes the sterile alpha motif oligomerization domain of the ETV6 (TEL) transcription factor linked to the protein tyrosine kinase domain of the neurotrophin-3 receptor NTRK3 (TRKC).     ///    ETV6-NTRK3: a chimeric protein tyrosine kinase with transformation activity in multiple cell lineages.. '), ('1943', 'ETV6_ACSL6', 't(5;12)(q23-31;p13) / ', 'ETV6', 'ACSL6', '16572202', '239', 'polycythemia vera\r\r', '', '', '', '', '', '', 'KB', 'Seq', 't(5;12)(q23-31;p13) with ETV6-ACSL6 gene fusion in polycythemia vera.. '), ('1944', 'TORC1_MAML2', 't(11;19) / ', 'TORC1', 'MAML2', '16670462', '239', 'hidradenoma\r\r', '', '', '', '', '', '', '', '', 'Clear cell hidradenoma of the skin--a third tumor type with a t(11;19)-associated TORC1-MAML2 gene fusion: Genes Chromosomes Cancer. '), ('1945', 'RUNX1_ETV6', 't(12;21) / ', 'RUNX1', 'ETV6', '20190817', '239', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' Approximately 25% of childhood B-cell precursor acute lymphoblastic leukemia have an ETV6/RUNX1 (E/R) gene fusion that results from a t(12;21).     ///    ETV6/RUNX1 abrogates mitotic checkpoint function and targets its key player MAD2L1.. '), ('1946', 'MYH11_CBFB', 'inv(16) / ', 'MYH11', 'CBFB', '12139724', '239', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Minimal residual disease quantification in patients with acute myeloid leukaemia and inv(16)/CBFB-MYH11 gene fusion..     ///     We have designed a real-time CBFB-MYH11 reverse transcription polymerase chain reaction (RT-PCR) assay to quantify minimal residual disease (MRD) in patients with inv(16)-positive acute myeloid leukaemia (AML).     ///    \"For two cases, a patient-specific real-time PCR for CBFB-MYH11 quantification at genomic DNA level was designed. \"    ///    \"Similar disease levels were found at the RNA and genomic DNA level during and after treatment, indicating that CBFB-MYH11 gene expression was unaltered during treatment and that the percentage of malignant cells can be accurately quantified at the RNA level. \"'), ('1947', 'NTRK3_ETV6', 't(12;15)(p13;q25) / ', 'NTRK3', 'ETV6', '21843073', '239', 'fibrosarcoma;sarcoma\r\r', '', 'Kinase', '', '', '', '', 'KB', 'Seq', 'All tumors demonstrated CIFS\'s characteristic t(12;15)(p13;q25) and associated ETV6-NTRK3 gene fusion.     ///    \"One of the three lung cases was previously reported as primary bronchopulmonary fibrosarcoma (PBPF), but molecular analysis of the paraffin embedded tissue revealed the ETV6-NTRK3 gene fusion consistent with CIFS. \"    ///    \"We show that CIFS may occur in unusual sites including visceral locations, and we propose that neoplasms displaying the ETV6-NTRK3 gene fusion represent the visceral components of CIFS.. \"'), ('1948', 'SYT_SSX2', 'p11;q11 / ', 'SYT', 'SSX2', '11782370', '238', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'They consistently show a specific t(X;18;p11;q11), which usually represents either of two gene fusions, SYT-SSX1 or SYT-SSX2, encoding putative transcriptional proteins differing at 13 amino acid positions.     ///    \"Among other comparisons, there was a strong association of fusion type and morphology (P < 0.001), with almost all of the SYT-SSX2 tumors showing absence of glandular differentiation (monophasic histology) and almost all of the biphasic tumors containing SYT-SSX1. \"    ///    \"Within the subset of patients with localized disease at diagnosis (n = 202), the median and 5-year survival for the SYT-SSX1 and the SYT-SSX2 groups were 9.2 years and 61% versus 13.7 years and 77%, respectively. \"    ///    \"Median and 5-year overall survivals for the SYT-SSX1 and SYT-SSX2 groups were 6.1 years and 53%, and 13.7 years and 73%, respectively. \"    ///    \"Overall survival was significantly better among SYT-SSX2 cases (P = 0.03), among cases localized at diagnosis (P < 0.0001), and among patients with primary tumors < 5 cm in greatest dimension (P = 0.01). \"    ///    \"specifically, the male:female ratio of SYT-SSX1 cases was 1:1, whereas for SYT-SSX2 cases, it was close to 1:2. \"    ///    \"Previous studies have suggested that patients with SYT-SSX2 tumors do better than those with SYT-SSX1 tumors, but the study groups were too limited to be conclusive. \"    ///    \"SYT-SSX1 and SYT-SSX2 fusions were detected in 147 tumors (61%) and 91 tumors (37%), respectively. \"    ///    \"Patients whose tumors contained the SYT-SSX2 fusion (P = 0.08) or were smaller (P = 0.12) showed a trend toward better survival by log-rank test, whereas tumor histology had no impact (P = 0.8). \"'), ('1949', 'SYT_SSX1', 'p11;q11 / ', 'SYT', 'SSX1', '11782370', '238', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'They consistently show a specific t(X;18;p11;q11), which usually represents either of two gene fusions, SYT-SSX1 or SYT-SSX2, encoding putative transcriptional proteins differing at 13 amino acid positions.     ///    \"Among other comparisons, there was a strong association of fusion type and morphology (P < 0.001), with almost all of the SYT-SSX2 tumors showing absence of glandular differentiation (monophasic histology) and almost all of the biphasic tumors containing SYT-SSX1. \"    ///    This may reflect the tendency for patients with SYT-SSX1 tumors to present more often with metastatic disease (P = 0.05).     ///    \"specifically, the male:female ratio of SYT-SSX1 cases was 1:1, whereas for SYT-SSX2 cases, it was close to 1:2. \"    ///    \"Within the subset of patients with localized disease at diagnosis (n = 202), the median and 5-year survival for the SYT-SSX1 and the SYT-SSX2 groups were 9.2 years and 61% versus 13.7 years and 77%, respectively. \"    ///    \"Previous studies have suggested that patients with SYT-SSX2 tumors do better than those with SYT-SSX1 tumors, but the study groups were too limited to be conclusive. \"    ///    \"Median and 5-year overall survivals for the SYT-SSX1 and SYT-SSX2 groups were 6.1 years and 53%, and 13.7 years and 73%, respectively. \"    ///    \"SYT-SSX1 and SYT-SSX2 fusions were detected in 147 tumors (61%) and 91 tumors (37%), respectively. \"'), ('1950', 'TFE3_ASPSCR1', 't(6;11)  / p11;q21 / p11;q25 / ', 'TFE3', 'ASPSCR1', '21602817', '237', 'renal cell carcinoma;alveolar soft part sarcoma;sarcoma\r\r', '', '', 'Oncogene', '', '', '', 'KB', '', 'eight genetically confirmed t(X;17)(p11;q25) carcinomas, harboring the ASPSCR1-TFE3 gene fusion.     ///    \"However, the expression of cathepsin K in specific genetic subtypes of Xp11 translocation carcinomas, as well as alveolar soft part sarcoma, which harbors the same ASPSCR1-TFE3 gene fusion as some Xp11 translocation carcinomas, has not been addressed. \"    ///    \"and 18 alveolar soft part sarcomas (12 genetically confirmed), harboring the identical ASPSCR1-TFE3 gene fusion. \"    ///    \"Expression of cathepsin K distinguishes alveolar soft part sarcoma from the ASPSCR1-TFE3 carcinoma, harboring the same gene fusion.\"    ///    \"Expression of cathepsin K distinguishes alveolar soft part sarcoma from the ASPSCR1-TFE3 carcinoma, harboring the same gene fusion. \"    ///    \"The latter can be useful diagnostically, especially when alveolar soft part sarcoma presents in an unusual site (such as bone) or with clear cell morphology, which raises the differential diagnosis of metastatic ASPSCR1-TFE3 renal cell carcinoma. \"    ///    \"In contrast, all eight ASPSCR1-TFE3 carcinomas were completely negative for cathepsin K. \"    ///    \"The difference in expression of cathepsin K between the PRCC-TFE3 and ASPSCR1-TFE3 carcinomas, together with the observed clinical differences between these subtypes of Xp11 translocation carcinomas, suggests the possibility of functional differences between these two related fusion proteins.. \"');
INSERT INTO `ChimerPub_dump` VALUES ('1951', 'TFE3_PRCC', 't(6;11)  / p11;q21 / p11;q25 / ', 'TFE3', 'PRCC', '21602817', '237', 'renal cell carcinoma;alveolar soft part sarcoma;sarcoma\r\r', '', '', '', '', '', '', 'KB', '', 'We performed immunohistochemistry for cathepsin K on 14 genetically confirmed t(X;1)(p11;q21) carcinomas, harboring the PRCC-TFE3 gene fusion.     ///    \"However, 12 of 14 PRCC-TFE3 carcinomas expressed cathepsin K.\"    ///    \"However, 12 of 14 PRCC-TFE3 carcinomas expressed cathepsin K. \"    ///    \"The difference in expression of cathepsin K between the PRCC-TFE3 and ASPSCR1-TFE3 carcinomas, together with the observed clinical differences between these subtypes of Xp11 translocation carcinomas, suggests the possibility of functional differences between these two related fusion proteins.. \"'), ('1952', 'NUP98_HOXA9', 't(7;11)(p15;p15) / ', 'NUP98', 'HOXA9', '26418229', '237', 'acute myeloid leukemia;chronic myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia;\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Cytogenetic and FISH analysis revealed t(7;11)(p15;p15) and NUP98-HOXA9 fusion gene was demonstrated.     ///    \"Genetic fusion NUP98-HOXA9, caused by t(7;11)(p15;p15), is a recurrent cytogenetic alteration in de novo acute myeloid leukemia (AML) usually found in young Asian patients and its description in therapy-related myeloid neoplasms (t-MN) is rare. \"    ///    \"Molecular demonstration of the genetic fusion NUP98-HOXA9 was performed by RT-PCR, and gene expression was analyzed by real-time PCR, including four AML patients with MLL rearrangements for comparative analysis. \"    ///    \"NUP98-HOXA9 bearing therapy-related myeloid neoplasm involves myeloid-committed cell and induces HOXA5, EVI1, FLT3, and MEIS1 expression.. \"    ///    Only one Asian case with molecular demonstration of the NUP98-HOXA9 fusion has been reported in therapy-related leukemia.     ///    \"In this work, we include a detailed molecular, clinical, cytological, and cytometric study of the second t-AML bearing NUP98-HOXA9 genetic fusion.. \"    ///    \"NUP98-HOXA9 leukemogenic mechanism is derived from the transcription factor activity of the chimeric protein, which enhances the expression of genes related to cellular differentiation arrest and proliferation. \"'), ('1953', 'ZNF384_TAF15', 'p13;q21 / ', 'ZNF384', 'TAF15', '21962896', '237', 'leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'We demonstrate the feasibility of this approach by identifying fusion genes TAF15-ZNF384 (brought about by a (12;17)(p13;q21) translocation) and BCR-ABL1 (produced by a (9:22)(q34;q11.2) translocation) in five leukemia samples. '), ('1954', 'NTRK3_ETV6', 't(12;15)(p13;q25) / t(6;11)(p21;q12) / ', 'NTRK3', 'ETV6', '12973047', '237', 'rhabdoid tumor', '', 'Kinase', '', '', '', '', 'KB', 'Seq', 'The cellular variant of congenital mesoblastic nephroma (but not the classic variant) has been shown to bear the same t(12;15)(p13;q25) and ETV6-NTRK3 gene fusion as infantile fibrosarcoma, a tumor with which it shares morphologic and clinical features. '), ('1955', 'BCR_ABL1', 't(9;22) / ', 'BCR', 'ABL1', '20633771', '236', 'acute lymphoblastic leukemia;chronic myeloid leukemia;myeloid leukemia;lymphoblastic leukemia;leuk\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The BCR-ABL1 fusion gene results from a reciprocal translocation rearrangement, t(9;22)(q34;q11.2), and is a hallmark of chronic myeloid leukemia (CML).     ///    A unique BCR-ABL1 transcript with the insertion of intronic sequence from BCR and ABL1 genes in a patient with Philadelphia-positive chronic myeloid leukemia: a case study..     ///    \"This atypical BCR-ABL1 transcript was detected along with a classic e13a2 transcript, using reverse transcription polymerase chain reaction (RT-PCR). \"    ///    \"To our knowledge, this is the first report of BCR-ABL1 transcript with breakpoint occurring within both BCR and ABL1 introns and fusion of intronic sequences from both BCR and ABL1 genes.. \"'), ('1956', 'WWTR1_CAMTA1', 't(1;3)  / ', 'WWTR1', 'CAMTA1', '25110239', '236', 'epithelioid hemangioendothelioma;epithelioid sarcoma;lobular carcinoma', '', '', '', '', '', 'Transcription_Factor', '', '', 'Recently, presence of t(1;3) translocation and WWTR1/CAMTA1 gene fusion, which enhances CAMTA1 expression, are found to be specific to this tumor. '), ('1957', 'NTRK3_ETV6', 't(12;15)(p13;q25) / ', 'NTRK3', 'ETV6', '9823307', '234', 'mesoblastic nephroma', '', 'Kinase', '', '', '', '', 'KB', 'Seq', 'We show here that t(12;15)(p13;q25)-associated ETV6-NTRK3 gene fusions described in CFS are also present in cellular CMN.     ///    ETV6-NTRK3 gene fusions and trisomy 11 establish a histogenetic link between mesoblastic nephroma and congenital fibrosarcoma..     ///    \"Moreover, we found trisomy 11 only in cellular or mixed CMNs with the ETV6-NTRK3 gene fusion. \"    ///    ETV6-NTRK3 chimeric transcripts were detected in 8 of 9 cellular CMNs and 2 of 2 mixed CMNs. '), ('1958', 'NUP98_HOXA9', 't(7;11)(p15;p15) / ', 'NUP98', 'HOXA9', '11830496', '232', 'myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', ' It has been demonstrated that the chromosomal translocation t(7;11)(p15;p15) in patients with human acute myelogenous leukemia (AML) and chronic myelogenous leukemia (CML) invariably involves fusion of the nucleoporin gene, NUP98, on chromosome 11 and the class 1 HOX gene, HOXA9, on chromosome 7, and that the fusion gene NUP98-HOXA9 is an important gene in myeloid leukemogenesis.     ///    Single-translocation and double-chimeric transcripts: detection of NUP98-HOXA9 in myeloid leukemias with HOXA11 or HOXA13 breaks of the chromosomal translocation t(7;11)(p15;p15)..     ///    In both patients chimeric NUP98-HOXA9 transcripts were also observed. '), ('1959', 'MLL_AFF1', 't(4;11)(q21;q23) / t(9;11)(p22;q23) / ', 'MLL', 'AFF1', '17284365', '232', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'Among the most frequent translocations are t(4;11)(q21;q23) and t(9;11)(p22;q23), which give rise to the MLL-AFF1 and MLL-MLLT3 fusion genes (alias MLL-AF4 and MLL-AF9) in acute lymphoblastic and acute myeloid leukemia, respectively. '), ('1960', 'EWS_CHN', 't(9;22)(q22;q11-12) / t(9;17)(q22;q11) / ', 'EWS', 'CHN', '12378528', '232', 'chondrosarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', ' Extraskeletal myxoid chondrosarcoma (EMC) is a soft-tissue neoplasm cytogenetically characterized by the translocations t(9;22)(q22;q11-12) or t(9;17)(q22;q11), generating EWS/CHN or RBP56/CHN fusion genes, respectively.     ///    Molecular genetic characterization of the EWS/CHN and RBP56/CHN fusion genes in extraskeletal myxoid chondrosarcoma..     ///    Fifteen cases had an EWS/CHN fusion transcript and three had an RBP56/CHN transcript.     ///    The most frequent EWS/CHN transcript (type 1.     ///    \"Repetitive elements such as Alu and LINE sequences seem to have limited, if any, importance in the genesis of EWS/CHN and RBP56/CHN chimeras. \"'), ('1961', 'RBP56_CHN', 't(9;22)(q22;q11-12) / t(9;17)(q22;q11) / ', 'RBP56', 'CHN', '12378528', '232', 'chondrosarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', ' Extraskeletal myxoid chondrosarcoma (EMC) is a soft-tissue neoplasm cytogenetically characterized by the translocations t(9;22)(q22;q11-12) or t(9;17)(q22;q11), generating EWS/CHN or RBP56/CHN fusion genes, respectively.     ///    Molecular genetic characterization of the EWS/CHN and RBP56/CHN fusion genes in extraskeletal myxoid chondrosarcoma..     ///    Fifteen cases had an EWS/CHN fusion transcript and three had an RBP56/CHN transcript.     ///    \"In all tumors with RBP56/CHN fusion, exon 6 of RBP56 was fused to exon 3 of CHN. \"    ///    \"Repetitive elements such as Alu and LINE sequences seem to have limited, if any, importance in the genesis of EWS/CHN and RBP56/CHN chimeras. \"'), ('1962', 'MLLT3_MLL', 't(4;11)(q21;q23) / t(9;11)(p22;q23) / ', 'MLLT3', 'MLL', '17284365', '232', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', '', 'Seq', 'Among the most frequent translocations are t(4;11)(q21;q23) and t(9;11)(p22;q23), which give rise to the MLL-AFF1 and MLL-MLLT3 fusion genes (alias MLL-AF4 and MLL-AF9) in acute lymphoblastic and acute myeloid leukemia, respectively. '), ('1963', 'WWTR1_CAMTA1', 'p36;q25 / ', 'WWTR1', 'CAMTA1', '24986479', '231', 'epithelioid hemangioendothelioma', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', '', '', 'Based on a reciprocal translocation t (1;3)(p36;q25), a consistent WWTR1-CAMTA1 fusion gene has been found.     ///    \"TFE3 showed a nuclear reaction in 21/24 cases, irrespective of TFE3 rearrangement.Molecular genetically, 35/35 cases revealed one of the fusion genes by FISH and/or RT-PCR with WWTR1-CAMTA1 in 33 cases and YAP1-TFE3 in 2 cases. \"'), ('1964', 'RARA_PML', 't(11;17)  / ', 'RARA', 'PML', '8018944', '230', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', '(3) APL is not a homogeneous disease in that among 50 patients studied at the molecular level, although a PML-RARA fusion gene was detected in 45 cases, one had a variant translocation t(11;17) bearing fusion gene PLZF-RARA, one presented no obvious structural alteration of the PML gene while the RARA gene was rearranged, and three patients had no rearrangement of either PML or RARA genes.     ///    (5) It seems likely that the fusion gene PML-RARA plays an important role in APL leukemogenesis and in its response to the ATRA treatment.. '), ('1965', 'RARA_PLZF', 't(11;17)  / ', 'RARA', 'PLZF', '8018944', '230', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', '(3) APL is not a homogeneous disease in that among 50 patients studied at the molecular level, although a PML-RARA fusion gene was detected in 45 cases, one had a variant translocation t(11;17) bearing fusion gene PLZF-RARA, one presented no obvious structural alteration of the PML gene while the RARA gene was rearranged, and three patients had no rearrangement of either PML or RARA genes. '), ('1966', 'FUS_CHOP', 't(12;16)(q13;p11) / ', 'FUS', 'CHOP', '10828883', '229', 'liposarcoma;sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' The characteristic t(12;16)(q13;p11) chromosomal translocation, which leads to gene fusion that encodes the FUS-CHOP chimeric protein, is associated with human liposarcomas.     ///    This establishes FUS-CHOP overexpression as a key determinant of human liposarcomas and provide the first in vivo evidence for a link between a fusion gene created by a chromosomal translocation and a solid tumor..     ///    We have introduced the FUS-CHOP transgene into the mouse genome in which the expression of the transgene is successfully driven by the elongation factor 1alpha (EF1alpha) promoter to all tissues.     ///    The altered expression of FUS-CHOP has been implicated in a characteristic subgroup of human liposarcomas.     ///    \"The consequent overexpression of FUS-CHOP results in most of the symptoms of human liposarcomas, including the presence of lipoblasts with round nuclei, accumulation of intracellular lipid, induction of adipocyte-specific genes and a concordant block in the differentiation program. \"    ///    \"We have demonstrated that liposarcomas in the FUS-CHOP transgenic mice express high levels of the adipocyte regulatory protein PPARgamma, whereas it is not expressed in embryonic fibroblasts from these animals following induction to differentiation toward the adipocyte lineage, indicating that the in vitro system does not really reflect the in vivo situation and the developmental defect is downstream of PPARgamma expression. \"    ///    The chimeric FUS/TLS-CHOP fusion protein specifically induces liposarcomas in transgenic mice.. '), ('1967', 'RUNX1_MECOM', 't(3;21)  / ', 'RUNX1', 'MECOM', '22950073', '229', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Flow cytometric analysis, chromosome analysis, FISH, and reverse transcriptase-PCR (RT-PCR) results indicated AML-MRC resulting from t(3;21) with the RUNX1-MECOM fusion gene.     ///    Detection of RUNX1-MECOM fusion gene and t(3;21) in a very elderly patient having acute myeloid leukemia with myelodysplasia-related changes.. '), ('1968', 'FUS_ERG', 't(16;21)  / t(16;21)(p11;q22) / t(12;16)(q13;p11) / ', 'FUS', 'ERG', '8187069', '228', 'liposarcoma;myeloid leukemia;leukemia;ewing sarcoma;sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Thus, the TLS/FUS-ERG gene fusion in t(16;21) leukemia is predicted to produce a protein that is very similar to the EWS-ERG chimeric protein responsible for Ewing\'s sarcoma..     ///    We show here that the TLS/FUS gene on chromosome 16 is fused with the ERG gene to produce the TLS/FUS-ERG chimeric transcript by this translocation. '), ('1969', 'JAK2_BCR', 't(9;22)(p24;q11) / ', 'JAK2', 'BCR', '18503828', '227', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' We report the occurrence of a BCR-JAK2 fusion gene in a case of acute myeloid leukemia (AML) resulting from a t(9;22)(p24;q11) translocation as the sole cytogenetic abnormality.     ///    A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11) in a patient with acute myeloid leukemia..     ///    The BCR-JAK2 fusion gene has the same breakpoint in BCR as is found in the BCR/ABL p210.     ///    \"Previously, BCR-JAK2 rearrangement was observed in a single case with atypical chronic myelogenous leukemia (CML), but in that case the breakpoint in the BCR was different.. \"'), ('1970', 'SETBP1_HMGA2', 't(12;18)(q14~15;q12~21) / t(12;18)  / ', 'SETBP1', 'HMGA2', '26202160', '227', '', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The recurrent chromosomal translocation t(12;18)(q14~15;q12~21) causes the fusion gene HMGA2-SETBP1 and HMGA2 expression in lipoma and osteochondrolipoma..     ///    \"The fact that the examined osteochondrolipoma had a t(12;18) and a HMGA2-SETBP1 fusion identical to the findings in the much more common ordinary lipomas, underscores the close developmental relationship between the two tumor types. \"'), ('1971', 'TEL_AML1', 't(12;21) (p12;q22) / t(12;21) / ', 'TEL', 'AML1', '10774753', '225', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' The chromosomal translocation t(12;21) (p12;q22) which results in the TEL-AML1 fusion gene is the most frequent genetic rearrangement in childhood B-lineage acute lymphoblastic leukemia (ALL).     ///    \"Furthermore, we could detect the TEL-AML1 transcript in the peripheral blood of t(12;21)-positive patients and we used this to assess minimal residual disease (MRD) in patients during chemotherapy. \"    ///    The TEL-AML1 fusion transcript was detected in nine of fourteen patients.     ///    Molecular detection of TEL-AML1 transcripts as a diagnostic tool and for monitoring of minimal residual disease in B-lineage childhood acute lymphoblastic leukemia.. '), ('1972', 'NPM_ALK', 't(2;5)(p23;q35) / ', 'NPM', 'ALK', '11943732', '225', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In most of these tumors, the t(2;5)(p23;q35) generates the NPM-ALK fusion gene.     ///    Transfection experiments using NIH-3T3 fibroblasts showed a similar transforming efficiency of TFG-ALK variants compared with NPM-ALK.     ///    \"In addition, in common with NPM-ALK, the TFG-ALK proteins formed stable complexes with the signaling proteins Grb2, Shc, and PLC-gamma. \"    ///    \"In conclusion, these findings indicate that the TFG may use a variety of intronic breakpoints in ALK rearrangements generating fusion proteins of different molecular weights, but with similar transforming potential than NPM-ALK.. \"'), ('1973', 'TEL_AML1', 't(12;21)  / ', 'TEL', 'AML1', '21628403', '225', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The t(12;21) translocation that generates the ETV6-RUNX1 (TEL-AML1) fusion gene, is the most common chromosomal rearrangement in childhood cancer and is exclusively associated with B-cell precursor acute lymphoblastic leukemia (BCP-ALL).     ///    \"To identify novel genes that cooperate with ETV6-RUNX1 in leukemogenesis, we generated a mouse model that uses the endogenous Etv6 locus to coexpress the Etv6-RUNX1 fusion and Sleeping Beauty transposase. \"    ///    This is the first mouse model of ETV6-RUNX1 to develop BCP-ALL and provides important insight into the cooperating genetic alterations in ETV6-RUNX1 leukemia..     ///    \"Moreover, murine models of ETV6-RUNX1 ALL that faithfully recapitulate the human disease are lacking. \"    ///    Single-nucleotide polymorphism array analysis of ETV6-RUNX1 patient samples has identified multiple additional genetic alterations. '), ('1974', 'NUT_BRD4', '19p13.1 / ', 'NUT', 'BRD4', '20352379', '225', '', '', 'Kinase', '', '', '', '', 'KB', '', 'These tumors are defined by rearrangement of the nuclear protein in testis (NUT) gene on chromosome 15q14, most commonly in a balanced translocation with the BRD4 gene on chromosome 19p13.1, resulting in the characteristic BRD4-NUT fusion gene and protein which blocks epithelial differentiation through chromatin binding. '), ('1975', 'TEL_AML1', 't(12;21)  / ', 'TEL', 'AML1', '25893288', '225', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The t(12;21) translocation is the most common genetic rearrangement in childhood acute lymphoblastic leukemia (ALL) and gives rise to the TEL-AML1 fusion gene.     ///    \"Global gene expression profiling of EML1 cells at different stages of B-lymphoid differentiation, compared with EML-TA, identified the interferon (IFN)?/? pathway as a primary target of repression by TEL-AML1. \"    ///    Our data provide new insight on TEL-AML1 function and may offer a new therapeutic opportunity for B-ALL.     ///    \"Furthermore, treatment of TEL-AML1 expressing cells with IFN?/? was sufficient to overcome the maturation block. \"    ///    \"The ability of TEL-AML1 to block B-cell differentiation and downregulate the IRF3-IFN?/? pathway was confirmed in mouse and human primary hematopoietic precursor cells (Lin- and CD34+ cells, respectively), and in a patient-derived cell line expressing TEL-AML1 (REH). \"    ///    \"Many studies on TEL-AML1 describe specific properties of the fusion protein, but a thorough understanding of its function is lacking. \"    ///    The TEL-AML1 fusion protein of acute lymphoblastic leukemia modulates IRF3 activity during early B-cell differentiation..     ///    \"We exploited a pluripotent hematopoietic stem/progenitor cell line, EML1, and generated a cell line (EML-TA) stably expressing the TEL-AML1 fusion protein. \"'), ('1976', 'RARA_PLZF', 't(15;17)  / t(15;17) / t(5;17)  / t(11;17)(q23;q21) / t(11;17) / ', 'RARA', 'PLZF', '10942370', '224', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'This group includes (1) cases with cryptic PML/RARA gene rearrangements and t(5;17) that leads to the NPM/RARA fusion gene, which are retinoid-responsive, and (2) cases with t(11;17)(q23;q21) that are associated with the PLZF/RARA fusion gene, which are retinoid-resistant.     ///    \"Interestingly, this classification system distinguished 9 cases with t(11;17)(q23;q21) and, in addition, successfully identified 2 cases lacking t(11;17), which were subsequently shown to have underlying PLZF/RARA fusions. \"    ///    A new morphologic classification system for acute promyelocytic leukemia distinguishes cases with underlying PLZF/RARA gene rearrangements..     ///    \"The PLZF/RARA cases were characterized by a predominance of blasts with regular nuclei, an increased number of Pelger-like cells, and by expression of CD56 in 4 of 6 cases tested. \"'), ('1977', 'RPN1_EVI1', 'inv(3) (q21q26) / t(3;3) (q21;q26) / inv(3)(q21q26) / t(3;3)(q21;q26) / ', 'RPN1', 'EVI1', '14607750', '224', 'myelodysplastic syndrome;leukemia\r\r', '', '', '', '', '', '', 'KB', '', 'We used reverse transcription polymerase chain reaction to evaluate the expression of EVI1 and GR6, and particularly of the fusion genes RPN1-EVI1 and GR6-EVI1 in 9 AML patients with either inv(3)(q21q26) (7 cases) or t(3;3)(q21;q26) (2 cases).     ///    \"EVI1 expression might occur either as a consequence of rearrangements leading to the formation of different fusion transcripts, such as RPN1-EVI1 and RPN1-DEVI1 or following disruption of the PR activation domain of the MDS1-EVI1 gene.. \"    ///    Association of 3q21q26 syndrome with different RPN1/EVI1 fusion transcripts..     ///    \"EVI1 and GR6 were always expressed, as was RPN1-EVI1. \"'), ('1978', 'FUS_CHOP', 't(12;16)(q13;p11) / ', 'FUS', 'CHOP', '16414544', '224', 'liposarcoma;sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' The aim of this study was to detect the chromosomal translocation t(12;16)(q13;p11) that leads to a gene fusion encoding a FUS-CHOP chimeric protein and has been shown to be highly characteristic of myxoid and round cell subtypes of liposarcoma, in a case of oral myxoid liposarcoma.     ///    Nested reverse transcriptase-polymerase chain reaction to detect the TLS/FUS-CHOP fusion gene transcript was performed.     ///    Detection of TLS/FUS-CHOP fusion transcripts in a case of oral liposarcoma..     ///    \"Only the myxoid oral liposarcoma showed a 103-base pair product, specific of TLS/FUS-CHOP fusion type II transcript. \"    ///    The identification of FUS-CHOP transcript is potentially useful in the diagnosis and research of oral liposarcomas.. '), ('1979', 'MLLT3_MLL', 't(9;11;19) / p22;q23 / ', 'MLLT3', 'MLL', '16450356', '224', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', '', 'Seq', 'Thus, a single chromosomal rearrangement resulting in formation of the MLL-MLLT3 fusion gene and haplo-insufficiency of FLJ10374 may have cooperated to promote leukemogenesis in AML with t(9;11;19).. '), ('1980', 'RARA_NPM', 't(15;17)  / t(15;17) / t(5;17)  / t(11;17)(q23;q21) / t(11;17) / ', 'RARA', 'NPM', '10942370', '224', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'This group includes (1) cases with cryptic PML/RARA gene rearrangements and t(5;17) that leads to the NPM/RARA fusion gene, which are retinoid-responsive, and (2) cases with t(11;17)(q23;q21) that are associated with the PLZF/RARA fusion gene, which are retinoid-resistant.     ///    Auer rods were absent in the t(5;17) case expressing NPM/RARA. '), ('1981', 'GR6_EVI1', 'inv(3) (q21q26) / t(3;3) (q21;q26) / inv(3)(q21q26) / t(3;3)(q21;q26) / ', 'GR6', 'EVI1', '14607750', '224', 'myelodysplastic syndrome;leukemia\r\r', '', '', '', '', '', '', '', '', 'We used reverse transcription polymerase chain reaction to evaluate the expression of EVI1 and GR6, and particularly of the fusion genes RPN1-EVI1 and GR6-EVI1 in 9 AML patients with either inv(3)(q21q26) (7 cases) or t(3;3)(q21;q26) (2 cases).     ///    GR6-EVI1 was absent. '), ('1982', 'ETO_AML1', 't(8;21)(q22;q22) / t(8;21)  / t(8;21)(q13;q22) / t(3;7)(q21;q36) / t(5;14)(p15;q11) / del(8)(q22) / t(8;21) / ', 'ETO', 'AML1', '23456526', '222', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' Acute myeloid leukemia (AML) with t(8;21)(q22;q22) generating the AML1/ETO fusion gene on 8q22 is a distinct type of AML t(8;21) category (WHO)/AML-M2 (FAB), generally associated with a favourable prognosis. '), ('1983', 'RAP1GDS1_NUP98', 't(4;11)(q21;p15) / ', 'RAP1GDS1', 'NUP98', '10929031', '221', 'T ALL\r\r', '', '', '', '', '', '', 'KB', '', 'Based on the available data, the t(4;11)(q21;p15) translocation involving the NUP98-RAP1GDS1 fusion gene emerges as a new highly specific genetic abnormality that characterizes a subset of T-ALL.. '), ('1984', 'TFE3_ASPL', 'p11;q25 / ', 'TFE3', 'ASPL', '19380023', '221', 'alveolar soft part sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'It is now clear that they are caused by a specific unbalanced translocation, der(17)t(X;17)(p11;q25), which results in the formation of an ASPSCR1-TFE3 (alias ASPL-TFE3) fusion gene. '), ('1985', 'NPM_ALK', 't(2;5) (p23;q35) / ', 'NPM', 'ALK', '8683377', '221', 'anaplastic large cell lymphoma;lymphoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', ' The fusion gene NPM-ALK occurs in a subset of anaplastic large cell lymphomas (ALCLs), as a result of a chromosomal translocation, t(2;5) (p23;q35).     ///    Molecular analysis of the NPM-ALK rearrangement in Hodgkin\'s disease..     ///    The expected 177 bp product indicative of the NPM-ALK rearrangement was identified in Karpas 299 and SUDHL-1 cell lines and in two out of eight ALCLs.     ///    \"In order to check this hypothesis, reverse transcriptase-polymerase chain reaction (RT-PCR) was performed to detect the hybrid NPM-ALK gene in 30 tumour samples, including 22 lymph node biopsies from HD and eight ALCL specimens. \"'), ('1986', 'ZNF444_EWSR1', 't(19;22)(q13;q12) / del(12)(q22) / del(22)(q11) / ', 'ZNF444', 'EWSR1', '19760602', '221', '', '', '', '', '', '', '', '', '', 't(19;22)(q13;q12) Translocation leading to the novel fusion gene EWSR1-ZNF444 in soft tissue myoepithelial carcinoma..     ///    \"How the new fusion gene contributes to tumorigenesis is unknown, but the finding of an EWSR1 rearrangement suggests that this, possibly even the EWSR1-ZNF444, is a defining pathogenetic feature of at least a subset of these tumors.. \"    ///    \"How the new fusion gene contributes to tumorigenesis is unknown, but the finding of an EWSR1 rearrangement suggests that this, possibly even the EWSR1-ZNF444, is a defining pathogenetic feature of at least a subset of these tumors..\"'), ('1987', 'NPM_ALK', 't(2;5)  / ', 'NPM', 'ALK', '9561912', '221', 'malignant histiocytosis', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'These in vitro studies have demonstrated that the proliferation is characterized by a unique chromosomal abnormality, the 5q35bp usually associated with a t(2;5) translocation generating a fusion gene NPM/ALK and the subsequent translation of p80 protein.     ///    \"In view of these chromosomal aberrations, the CD30+ ALCLs represent a heterogeneous group because 15% to 50% express the NPM/ALK fusion gene. \"'), ('1988', 'PDGFRB_ETV6', 'p13;q33 / ', 'PDGFRB', 'ETV6', '17574967', '221', 'leukemia\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', '', '', 'Receptor', '', 'KB', '', 'Molecular cytogenetic findings in a four-way t(1;12;5;12)(p36;p13;q33;q24) underlying the ETV6-PDGFRB fusion gene in chronic myelomonocytic leukemia..     ///     Fluorescence in situ hybridization (FISH) and reverse-transcription polymerase chain reaction (RT-PCR) detected the ETV6-PDGFRB fusion in a patient with chronic myelomonocytic leukemia characterized by bone marrow and peripheral blood eosinophilia and a four-way t(1;12;5;12)(p36;p13;q33;q24) on bone marrow cells.     ///    The FICTION technique (fluorescence immunophenotyping and interphase cytogenetics as a tool for the investigation of neoplasms) demonstrated that eosinophils and CD13(+) and CD14(+) cells belong to the neoplastic clone bearing the ETV6-PDGFRB rearrangement. '), ('1989', 'MLL_ENL', 't(4;11) / t(9;22) / t(11;19) / t(12;21) / t(17;19)  / ', 'MLL', 'ENL', '9680106', '221', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'All BCP-cell lines examined have complex numerical and structural chromosomal alterations including translocations commonly seen in BCP-ALL such as t(4;11), t(9;22), t(11;19), t(12;21), and t(17;19) involving the fusion genes MLL-AF4, BCR-ABL, ENL-MLL, TEL/ETV6-AML1 and E2A-HLF, respectively. '), ('1990', 'RUNX1_ETV6', 't(12;21)  / ', 'RUNX1', 'ETV6', '22094587', '221', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' The ETV6/RUNX1 (E/R) gene fusion is generated by the t(12;21) and found in approximately 25% of childhood B-cell precursor acute lymphoblastic leukemia.     ///    Silencing of ETV6/RUNX1 abrogates PI3K/AKT/mTOR signaling and impairs reconstitution of leukemia in xenografts.. '), ('1991', 'BCL2L1_BACH2', 't(6;20) / t(8;14)  / ', 'BCL2L1', 'BACH2', '21412927', '221', 'lymphoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'A BACH2-BCL2L1 fusion gene resulting from a t(6;20)(q15;q11.2) chromosomal translocation in the lymphoma cell line BLUE-1.. '), ('1992', 'ZNF198_FGFR1', 't(8;13) (p11;q13) / ', 'ZNF198', 'FGFR1', '19829149', '221', 'acute myeloid leukemia;myeloid leukemia;leukemia;lymphoma;hematologic malignancy\r\r', '', 'Kinase', '', '', '', '', 'KB', '', 'The most common translocation, t(8;13) (p11;q13), results in a ZNF198-FGFR1 fusion gene and constitutively active FGFR1 tyrosine kinase activity. '), ('1993', 'NUT_BRD4', '19p13.1 / ', 'NUT', 'BRD4', '18552174', '221', '', 'PCR', 'Kinase', '', '', '', '', 'KB', '', 'In most cases, NUT is involved in a balanced translocation with the BRD4 gene on chromosome 19p13.1, an event that creates a BRD4-NUT fusion gene. '), ('1994', 'CSF1_COL6A3', 't(1;2)(p13;q37) / t(1;2)  / ', 'CSF1', 'COL6A3', '17918257', '220', 'giant cell tumor\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Based upon the suggestion that a fusion of these genes through the translocation would result in overexpression of CSF1 due to a strong COL6A3 promoter, we performed RT-PCR on six TGCT cases with t(1;2) to search for a putative COL6A3-CSF1 fusion gene.     ///    Molecular identification of COL6A3-CSF1 fusion transcripts in tenosynovial giant cell tumors.. '), ('1995', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '8385249', '220', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', ' Chromosome translocation t(15;17) specifically found in acute promyelocytic leukemia (APL) results in cleavage in the introns of PML gene on chromosome 15 and in the intron of the retinoic acid receptor alpha (RAR alpha) gene on chromosome 17, creation and expression of PML-RAR alpha and RAR alpha-PML fusion genes. '), ('1996', 'CALM_AF10', 't(10;11)(p13-14;q14-21) / ', 'CALM', 'AF10', '21681188', '220', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The t(10;11)(p13-14;q14-21) translocation, giving rise to the CALM-AF10 fusion gene, is a recurrent chromosomal rearrangement observed in patients with poor prognosis acute myeloid leukemia (AML).     ///    \"Although splicing of the CALM-AF10 fusion transcripts has been described in AML patients, the contribution of different CALM and AF10 domains to in vivo leukemogenesis remains to be defined. \"    ///    \"In summary, this study indicates that collaboration of the clathrin-binding and the OM-LZ domains of CALM-AF10 is sufficient to induce AML. \"    ///    We therefore performed detailed structure-function studies of the CALM-AF10 fusion protein. '), ('1997', 'BCR_ABL1', 't(9;22)(q34;q22) / ', 'BCR', 'ABL1', '21944569', '220', 'acute lymphoblastic leukemia;chronic myeloid leukemia;myeloid leukemia;lymphoblastic leukemia;leuk\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The chromosomal translocation t(9;22)(q34;q22), with expression of the BCR-ABL1 fusion gene is the cytogenetic and molecular hallmark of chronic myeloid leukemia (CML) and a subset of acute lymphoblastic leukemia (ALL).     ///    \"Basically two types of BCR-ABL1 chimeric mRNA transcripts have been observed: (1) e13a2/e14a2 transcripts in CML and ALL, resulting from chromosomal breaks in the major breakpoint cluster region (M-bcr) of the BCR gene and (2) e1a2 transcripts in ALL resulting from breaks in the minor breakpoint cluster region (m-bcr) of the BCR gene. \"'), ('1998', 'NUP98_LEDGF', 't(9;11)(p22;p15) / ', 'NUP98', 'LEDGF', '15725483', '219', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 't(9;11)(p22;p15) with NUP98-LEDGF fusion gene in pediatric acute myeloid leukemia.. '), ('1999', 'MLL_KIAA0284', 't(11;14)(q23;q32) / ', 'MLL', 'KIAA0284', '18640063', '218', 'acute myeloid leukemia;myeloid leukemia;leukemia;breast cancer\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'A MLL-KIAA0284 fusion gene in a patient with secondary acute myeloid leukemia and t(11;14)(q23;q32)..     ///    The breakpoint in the KIAA0284 gene was located 5\' of the putative start codon and an in-frame MLL-KIAA0284 transcript was detectable by RT-PCR. '), ('2000', 'Immunoglobulin _BCL2', 't(14;18)(q32;q21) / t(14;18)  / t(14;18) / ', 'Immunoglobulin ', 'BCL2', '9443038', '218', 'non Hodgkin lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Refinement of the BCL2/immunoglobulin heavy chain fusion gene in t(14;18)(q32;q21) by polymerase chain reaction amplification for long targets.. '), ('2001', 'ETO_AML1', 't(8;21)(q22;q22) / t(8;21)  / ', 'ETO', 'AML1', '14686496', '217', 'leukemia\r\r', '', '', '', '', '', '', '', '', ' The AML1/ETO fusion gene is expressed in virtually all patients with t(8;21)(q22;q22) acute myelogenous leukemia (AML).     ///    \"Long-term complete remission (CR) of AML with t(8;21) has been observed despite the presence of residual AML1/ ETO fusion transcripts, although detection may depend on the sensitivity of the methods used. \"    ///    \"The blast cells at the time of recurrence expressed the AML1/ETO fusion transcript, and the breakpoint of the AML1 gene was located on intron 5. \"    ///    (2) AML developed in different subclones having the same AML1/ETO junctional sequences but with additional genetic changes (second hit)..     ///    Recurrence of acute myelogenous leukemia with the same AML1/ETO breakpoint as at diagnosis after complete remission lasting 15 years: analysis of stored bone marrow smears.. '), ('2002', 'FUS_CREB3L2', 't(7;16) (q32-34;p11) / ', 'FUS', 'CREB3L2', '15640831', '216', 'sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Cytogenetic analyses have identified a recurrent balanced translocation t(7;16) (q32-34;p11), later shown by molecular genetic approaches to result in a FUS/CREB3L2 fusion gene.     ///    \"Reverse transcriptase-polymerase chain reaction analysis disclosed a FUS/CREB3L2 fusion transcript in 22 of the 23 (96%) cases that remained classified as LGFMS after the histologic re-evaluation and from which RNA of sufficient quality could be extracted, whereas none of the cases that were classified as other tumor types was fusion-positive. \"    ///    \"Taken together, the results indicate that virtually all LGFMS are characterized by a chimeric FUS/CREB3L2 gene, and that rare cases may display a variant FUS/CREB3L1 fusion.. \"    ///    \"Taken together, the results indicate that virtually all LGFMS are characterized by a chimeric FUS/CREB3L2 gene, and that rare cases may display a variant FUS/CREB3L1 fusion..\"    ///    \"Thus, it is expected that the novel FUS/CREB3L1 chimera will have a similar impact at the cellular level as the much more common FUS/CREB3L2 fusion protein. \"'), ('2003', 'NUP98_IQCG', 't(3;11)(q29q13;p15) / del(3)(q29) / ', 'NUP98', 'IQCG', '18084320', '216', 'myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'A new fusion gene NUP98-IQCG identified in an acute T-lymphoid/myeloid leukemia with a t(3;11)(q29q13;p15)del(3)(q29) translocation..     ///    \"We demonstrated that NUP98-IQCG could form homodimer, heterodimerize with NUP98 or IQCG, bind co-activators and/or co-repressors, and show transcriptional activity in vitro. \"    ///    \"Colony-forming assay and serial replating assays indicated that NUP98-IQCG was able to stimulate proliferation, partially block differentiation of hematopoietic stem/progenitor cells but was unable to confer transformation alone. \"    ///    \"Expression of NUP98-IQCG inhibited 32Dcl3 cell apoptosis induced by Ara-C, and partially blocked granulocyte differentiation induced by G-CSF. \"    ///    \"Taken together, our data indicate that newly identified NUP98-IQCG fusion protein may play an essential role in leukemogenesis, but by itself may not be sufficient to induce leukemia.. \"'), ('2004', 'PDGFRB_ETV6', 't(5;12)(q33;p13) / t(5;12)  / ', 'PDGFRB', 'ETV6', '12181402', '216', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', '', '', 'Receptor', '', 'KB', '', 'The gene is located on chromosome 5q33, and the activation is usually caused by a t(5;12)(q33;p13) translocation associated with an ETV6-PDGFRB fusion gene.     ///    \"In the three patients with the ETV6-PDGFRB fusion gene, the transcript level decreased, and in one patient, it became undetectable by 36 weeks. \"    ///    their leukemia cells carried the ETV6-PDGFRB fusion gene. '), ('2005', 'PDGFRB_MYO18A', 't(5;17) / ', 'PDGFRB', 'MYO18A', '19006078', '216', '', 'PCR', 'Kinase', '', '', 'Receptor', '', '', '', 'We used a DNA-based \"long-distance inverse PCR\" (LDI-PCR) to identify a new MYO18A-PDGFRB fusion gene in an Eos-MPN with associated t(5;17)(q33-34;q11.2).     ///    Identification of a MYO18A-PDGFRB fusion gene in an eosinophilia-associated atypical myeloproliferative neoplasm with a t(5;17)(q33-34;q11.2).. '), ('2006', 'TEL_AML1', 't(12;21)(p13;q22) / ', 'TEL', 'AML1', '16020107', '215', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia;down syndrome\r\r', '', '', '', '', '', '', '', '', ' Constitutional trisomy 21 is the most prominent predisposing factor to childhood leukemia, whereas the t(12;21)(p13;q22) with its molecular genetic counterpart, the TEL/AML1 fusion gene, is the most common acquired chromosomal rearrangement in childhood B-cell precursor (BCP) acute lymphoblastic leukemia (ALL).     ///    Based on this observation they concluded that individuals with BCP leukemia and a constitutional trisomy 21 may have similar likelihood to have a TEL/AML1 rearrangement as BCP ALL patients without this specific predisposing factor..     ///    Equal frequency of TEL/AML1 rearrangements in children with acute lymphoblastic leukemia with and without Down syndrome.. '), ('2007', 'TEL_AML1', 't(12;21)(p13;q22) / ', 'TEL', 'AML1', '15770827', '215', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia;down syndrome\r\r', '', '', '', '', '', '', '', '', ' Constitutional trisomy 21 is the most prominent predisposing factor to childhood leukemia, whereas the t(12;21)(p13;q22) with its molecular genetic counterpart, the TEL/AML1 fusion gene, is the most common acquired chromosomal rearrangement in childhood B-cell precursor (BCP) acute lymphoblastic leukemia (ALL). '), ('2008', 'MYH11_CBFB', 'inv(16)(p13q22) / t(16;16)(p13;q22) / inv(16)  / del(16q22)  / inv(16) / ', 'MYH11', 'CBFB', '7577615', '215', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' The pericentric inversion of chromosome 16 [inv(16)(p13q22)] and t(16;16)(p13;q22) are chromosomal rearrangements frequently associated with AML FAB type M4Eo resulting in the production of a fusion gene CBFB/MYH11.     ///    \"Though RT-PCR is highly sensitive in detecting CBFB/MYH11 fusion transcripts during remission, monitoring of minimal residual disease in patients with inv(16) remains to be established.. \"    ///    Detection of CBFB/MYH11 transcripts in patients with inversion and other abnormalities of chromosome 16 at presentation and remission..     ///    \"We studied 17 patients with a chromosome 16 abnormality (eight M4Eo, two M1, one M2, three M4 without abnormal eosinophils, three MDS) for the presence of CBFB/MYH11 transcripts using an RT-PCR technique. \"'), ('2009', 'RUNX1T1_RUNX1', 't(8;21)(q22;q22) / ', 'RUNX1T1', 'RUNX1', '24976338', '215', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', ' The RUNX1-RUNX1T1 fusion gene, a product of the nonhomologous balanced translocation t(8;21)(q22;q22), is a complex genetic locus.     ///    \"While the RUNX1T1 gene is not expressed in normal hematopoietic cells, it may participate in t(8;21)(q22;q22)-dependent leukemic transformation due to its multiple interactions in cell regulatory network particularly through synergistic or antagonistic effects in relation to activity of RUNX1-RUNX1T1 fusion gene. \"'), ('2010', 'JAK2_BCR', 't(8;9)(p22;p24) / t(9;22)(p24;q11) / ', 'JAK2', 'BCR', '25260694', '215', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' Rearrangements of chromosome band 9p24 are known to be associated with JAK2 fusion genes, e.g., t(8;9)(p22;p24) with a PCM1-JAK2 and t(9;22)(p24;q11) with a BCR-JAK2 fusion gene, respectively.     ///    \"With the discovery of inhibitors of the JAK2 tyrosine kinase and based on encouraging in vitro and in vivo data, we treated two male patients with myeloid neoplasms and a PCM1-JAK2 or a BCR-JAK2 fusion gene, respectively, with the JAK1/JAK2 inhibitor ruxolitinib. \"    ///    Limited duration of complete remission on ruxolitinib in myeloid neoplasms with PCM1-JAK2 and BCR-JAK2 fusion genes.. '), ('2011', 'FUS_CREB3L2', 't(7;16)(q33;p11) / t(7;16)  / ', 'FUS', 'CREB3L2', '21536545', '215', 'sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', ' Low-grade fibromyxoid sarcoma (LGFMS) is typically characterized by the specific translocation t(7;16)(q33;p11) and the corresponding fusion gene FUS-CREB3L2.     ///    \"FUS-CREB3L2 was capable of activating transcription from CD24 regulatory sequences in luciferase assays, suggesting an important role for the upregulation of this gene in LGFMS. \"    ///    FOXL1 was identified as the top upregulated gene in LGFMS and CD24 was upregulated in both LGFMS tumors and FUS-CREB3L2 expressing cells.     ///    \"In addition, cells that stably expressed FUS-CREB3L2 were analyzed with gene expression array and the influence of FUS-CREB3L2 on gene expression was investigated in vitro. \"    ///    The data could be used to identify a potential diagnostic marker for LGFMS and to identify possible FUS-CREB3L2 regulated genes..     ///    FUS-CREB3L2/L1-positive sarcomas show a specific gene expression profile with upregulation of CD24 and FOXL1.. '), ('2012', 'MALT1_API2', 't(11;18)(q21;q21) / ', 'MALT1', 'API2', '14681324', '214', 'MALT lymphoma;B cell lymphoma;lymphoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' The API2-MALT1 fusion gene was originally identified from a t(11;18)(q21;q21) translocation, a specific chromosomal abnormality that is found in mucosa-associated lymphoid tissue (MALT) lymphoma.     ///    API2-MALT1 fusion gene in colorectal lymphoma..     ///    API2-MALT1 fusion genes were detected in seven cases (15%) of MALT lymphoma and one case (8%) of diffuse large B-cell lymphoma.     ///    \"Gastric MALT lymphomas positive for the API2-MALT1 fusion gene do not respond to Helicobacter pylori-eradication therapy, but otherwise, the incidence and clinicopathological behavior of colorectal MALT lymphoma with this genetic abnormality are unclear. \"    ///    We examined the API2-MALT1 fusion by multiplex RT-PCR method in 47 cases of MALT lymphoma and 13 cases of diffuse large B-cell lymphoma and evaluated the relevance of API2-MALT1 positivity to the clinical and pathological features. '), ('2013', 'MALT1_API2', 't(11;18)  / ', 'MALT1', 'API2', '17852708', '214', 'MALT lymphoma;lymphoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' To detect the t(11;18) chromosome translocation in different stages of mucosa-associated lymphoid tissue (MALT) lymphoma, we established a RT-PCR method by adopting three new primer pairs and using the RNA extracted from the paraffin tissues to amplify the t(11;18) fusion gene API2-MALT1 in shorter lengths. '), ('2014', 'PHF1_JAZF1', 't(7;17)(p15;q21) / t(7;17)  / t(6;7) / ', 'PHF1', 'JAZF1', '16397222', '214', 'endometrial stromal sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'In the two tumors with t(6;7), PHF1 was recombined with the JAZF1 gene from 7p15, leading to the formation of a JAZF1/PHF1 fusion gene.     ///    Consistent rearrangement of chromosomal band 6p21 with generation of fusion genes JAZF1/PHF1 and EPC1/PHF1 in endometrial stromal sarcoma.. '), ('2015', 'FUS_CREB3L1', 't(7;16)(q34;p11) / t(11;16)(p11;p11) / ', 'FUS', 'CREB3L1', '22819758', '214', 'sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' Low-grade fibromyxoid sarcoma is a rare soft tissue sarcoma of fibroblastic differentiation characterized by a deceptively benign morphologic appearance with almost consistent MUC4 expression and recurrent chromosomal translocations, t(7;16)(q34;p11) and t(11;16)(p11;p11), resulting in the FUS-CREB3L2 and FUS-CREB3L1 fusion genes, respectively. '), ('2016', 'FUS_CREB3L2', 't(7;16)(q34;p11) / t(11;16)(p11;p11) / ', 'FUS', 'CREB3L2', '22819758', '214', 'sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', ' Low-grade fibromyxoid sarcoma is a rare soft tissue sarcoma of fibroblastic differentiation characterized by a deceptively benign morphologic appearance with almost consistent MUC4 expression and recurrent chromosomal translocations, t(7;16)(q34;p11) and t(11;16)(p11;p11), resulting in the FUS-CREB3L2 and FUS-CREB3L1 fusion genes, respectively.     ///    \"The diagnosis of the tumor was confirmed by positive immunoreactivity to MUC4 and the FUS-CREB3L2 fusion detected by molecular testing using formalin-fixed, paraffin-embedded tissue. \"'), ('2017', 'MKL2_C11orf95', 't(11;16)(q13;p13) / ', 'MKL2', 'C11orf95', '23672313', '214', 'hibernoma', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Based on a recurrent translocation t(11;16)(q13;p13), the C11orf95-MKL2 fusion gene has been found in a few cases.     ///    A C11orf95-MKL2 fusion gene was shown by RT-PCR analysis in seven of the eight cases.     ///    Presence of C11orf95-MKL2 fusion is a consistent finding in chondroid lipomas: a study of eight cases.. '), ('2018', 'BCR_ABL1', 't(9;22)  / t(9;22)(q34;q11) / ', 'BCR', 'ABL1', '23642027', '214', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The t(9;22)(q34;q11) generating the BCR/ABL1 fusion gene represents the cytogenetic hallmark of chronic myeloid leukemia (CML). '), ('2019', 'RARA_PML', 't(15;17)  / t(9;22)  / t(11;17)  / t(5;17) / ', 'RARA', 'PML', '8819070', '214', 'chronic myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia;disseminated intra\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The t(15;17) leads to the formation of two reciprocal fusion genes, PML/RARA on chromosome 15 and RARA/PML on chromosome 17.     ///    \"In contrast, recent molecular analysis of APL cases with cytogenetically normal chromosomes 15 and 17 revealed the occurrence of submicroscopic translocations, leading to the formation of non reciprocal fusion genes, either PML/RARA or RARA/PML only. \"'), ('2020', 'USP42_RUNX1', 't(7;21)(p22;q22) / t(7;21)  / ', 'USP42', 'RUNX1', '23877199', '214', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', 'Seq', ' The rare but recurrent RUNX1-USP42 fusion gene is the result of a t(7;21)(p22;q22) chromosomal translocation and has been described in 6 cases of acute myeloid leukemia (AML) and one case of refractory anemia with excess of blast.     ///    \"The bone marrow cells in the present case also had a 5q deletion, and it was revealed that 5 out of the 8 reported cases (including the present case) with t(7;21)(p22;q22)/RUNX1-USP42 also had cytogenetic abnormalities of 5q. \"    ///    PCR amplified two RUNX1-USP42 cDNA fragments but no reciprocal USP42-RUNX1 fragment indicating that the RUNX1-USP42 is the leukemogenic fusion gene.     ///    \"The predicted RUNX1-USP42 fusion protein would contain the Runt homology domain (RHD), which is responsible for heterodimerization with CBFB and for DNA binding, and the catalytic UCH (ubiquitin carboxyl terminal hydroxylase) domain of the USP42 protein. \"'), ('2021', 'RUNX1_CBFA2T3', 't(16;21)(q24;q22) / ', 'RUNX1', 'CBFA2T3', '22241158', '214', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' The t(16;21)(q24;q22), a rare chromosomal translocation observed mostly in therapy-related acute myelogenous leukemia (AML), produces a RUNX1-CBFA2T3 fusion gene.     ///    \"In this case, we demonstrated the RUNX1-CBFA2T3 fusion gene and established quantitative RT-PCR for detecting minimal residual disease.. \"'), ('2022', 'SYT_SSX1', 'p11.2;q11.2 / t(12;15)(p13;q25) / ', 'SYT', 'SSX1', '11107054', '213', 'synovial sarcoma;rhabdomyosarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In the three cases, a reverse transcription-polymerase chain reaction (RT-PCR) using ribonucleic acid extracted from formalin-fixed, paraffin-embedded tissues detected SYT-SSX1 fusion gene transcripts resulting from translocation t(X;18)(p11.2;q11.2), which is specific for synovial sarcoma. '), ('2023', 'NPM_ALK', 't(2;5)(p23;q35) / t(2;3)(p23;q21) / t(2;5)  / ', 'NPM', 'ALK', '10556217', '213', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' Anaplastic large cell lymphoma (ALCL) is associated with the t(2;5)(p23;q35), which generates the NPM-ALK fusion gene encoding an 80-kD protein. '), ('2024', 'DEK_CAN', 't(6;9)  / ', 'DEK', 'CAN', '1308167', '213', 'leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'Translocation t(6;9) in acute non-lymphocytic leukaemia results in the formation of a DEK-CAN fusion gene..     ///    \"On the 6p- chromosome, the resulting DEK-CAN fusion gene is transcribed into a leukaemia-specific 5.5 kb chimaeric mRNA that encodes a putative DEK-CAN fusion protein. \"    ///    \"Moreover, the result of the translocation is an invariable DEK-CAN transcript, which can be sensitively monitored by RNA-PCR. \"    ///    No transcription could be detected from the reciprocal CAN-DEK fusion on chromosome 9q+.     ///    \"However, preliminary localization data and analysis of sequence motifs suggested that DEK-CAN may have a role in transcription regulation. \"'), ('2025', 'CALM_AF10', 't(10;11)(p13;q14) / t(10;11)(p13-14;q14-21) / t(10;11)  / t(10;11) / ', 'CALM', 'AF10', '10554802', '213', 'lymphoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Our results suggest that the CALM-AF10 fusion gene is a constant feature and is involved in the pathogenesis of haematological malignancies with t(10;11)(p13-14;q14-21), showing various and often multilineage phenotypes.     ///    Consistent detection of CALM-AF10 chimaeric transcripts in haematological malignancies with t(10;11)(p13;q14) and identification of novel transcripts..     ///    The CALM-AF10 fusion transcript was detected in all samples.     ///    In RT-PCR analysis there were six isoforms of the CALM-AF10 fusion transcripts and five of AF10-CALM fusion transcripts.     ///    \"however, the AF10-CALM fusion was not detected in two patient samples and one cell line. \"'), ('2026', 'TRB_NOTCH1', 't(7;9)(q34;q34) / t(7;9) / ', 'TRB', 'NOTCH1', '23033986', '213', 'T ALL;lymphoma\r\r', 'PCR', '', 'Oncogene', 'Tumor_suppressor', '', '', '', '', 'A novel TRB@/NOTCH1 fusion gene in T-cell lymphoblastic lymphoma with t(7;9)(q34;q34)..     ///    \"The TRB@/NOTCH1 fusion gene with a NOTCH1 breakpoint in exon 25, which has not previously been detected in four other reported cases with t(7;9), could lead to aberrant expression of the truncated NOTCH1 by TRB@ enhancer elements. \"    ///    Reverse transcription-PCR confirmed expression of the TRB@/NOTCH1 fusion transcripts. '), ('2027', 'NPM_ALK', 't(2;5)  / ', 'NPM', 'ALK', '21380699', '213', 'non Hodgkin Lymphoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Until recently, recurrent genetic abnormalities characteristic of the large-cell lymphomas had not been identified.However, the characterization during the past 2 yr of chromosomal rearrangements mvolvmg the BCL6/LAZ3 zmc finger gene located at 3q27 (which is altered m approx 30% of these tumors [2,3]), and the cloning by our group (4) of the NPM-ALK fusion gene produced by the t(2;5) may now permrt the identrficatton of molecular genetic subtypes of largecell lymphoma that possess unique btological and/or clinical features..     ///    NPM-ALK Reverse Transcriptase-Polymerase Chain Reaction Analysis for Detection of the t(2;5) Translocation of Non-Hodgkin\'s Lymphoma.. '), ('2028', 'MLL_CBP', 't(11;16) / t(11;16)(q23;p13) / t(11;16)  / ', 'MLL', 'CBP', '15334549', '213', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'In the t(11;16), 3\' CBP, on 16p13, is fused to 5\' MLL, on 11q23, resulting in an MLL-CBP fusion gene that plays an important role in leukemogenesis.     ///    \"In all patients except one, both the genomic MLL-CBP and the reciprocal fusions were cloned. \"'), ('2029', 'HLF_E2A', 't(17;19)(q22;p13) / t(17;19)  / ', 'HLF', 'E2A', '7518549', '213', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia;disseminated intravascular coagulation\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', '', '', '', ' Three cases of acute lymphoblastic leukemia (ALL) with the rare t(17;19)(q22;p13) translocation were investigated for E2A/HLF fusion genes using reverse transcription coupled with polymerase chain reaction (RT-PCR).     ///    E2A/HLF fusion cDNAs and the use of RT-PCR for the detection of minimal residual disease in t(17;19)(q22;p13) acute lymphoblastic leukemia..     ///    \"Case 3 showed, in addition, type I fusion E2A/HLF cDNA at presentation, through induction therapy when there was evidence of active disease, but not in CR. \"    ///    \"Type II E2A/HLF fusion cDNA was found at diagnosis (cases 1, 2), at presentation (case 3) and in all samples tested, whether with active disease or in complete remission (CR). \"'), ('2030', 'FUS_ERG', 't(2;3)(q21;q21) / del(3)(q21) / t(1;10)(q32;q24) / ', 'FUS', 'ERG', '24068373', '211', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'We performed RNA-Seq on an acute myeloid leukemia in a 2-year-old girl with the karyotype 46,XX,add(1)(p36), der(2)t(2;3)(q21;q21),del(3)(q21),der(10)t(1;10)(q32;q24),der(16)(2qter-->2q21::16p11-->16q24::16p11-->16pter)[13]/46,XX[2] and identified a cryptic FUS/ERG fusion gene.     ///    \"The FUS-ERG transcript found here has been reported in only two other cases of childhood leukemia, in a 1-year-old boy and an 8-month-old boy, both diagnosed with precursor B cell ALL. \"    ///    \"The clinical significance, if any, of the amino acid residues which are coded by the exons 8, 9 and 10 of ERG in the fusion FUS-ERG proteins, remains unclear.\"    ///    Cryptic FUS-ERG fusion identified by RNA-sequencing in childhood acute myeloid leukemia..     ///    \"The clinical significance, if any, of the amino acid residues which are coded by the exons 8, 9 and 10 of ERG in the fusion FUS-ERG proteins, remains unclear. \"    ///    \"The fusion transcript codes for a 497 amino acid residues FUS-ERG protein and, similar to other AML-related FUS-ERG fusion proteins, contains both functional domains (TR1 and TR2) of the transactivation domain of FUS and the ETS domain of ERG. \"    ///    PCR and direct sequencing verified the presence of the FUS-ERG chimeric transcript in which exon 7 of FUS from 16p11 (nt 904 in sequence with accession number NM_004960 version 3) was fused in frame to exon 8 of ERG from sub-band 21q22.2 (nt 967 in NM_004449 version 4). '), ('2031', 'RUNX1_ETV6', 't(12;21)  / t(12;21) / 9p21.3 / 12p13.2 / ', 'RUNX1', 'ETV6', '19665068', '211', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'By contrast, the t(12;21) ETV6-RUNX1 fusion gene is typically detected in children older than 2 years.     ///    ETV6-RUNX1 fusion gene and additional genetic changes in infant leukemia: a genome-wide analysis..     ///    \"In a series of Brazilian infant leukemia cases, however, four younger cases harbored ETV6-RUNX1, at ages 2, 3, 5, and 7 months. \"'), ('2032', 'MYH11_CBFB', 't(8;21)  / inv(16) / t(16;16)  / inv(16)  / ', 'MYH11', 'CBFB', '23878140', '211', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Since the expression of the fusion genes CBFB/MYH11 or RUNX1/RUNX1T1 alone is not sufficient to cause leukemia, we performed exome sequencing of an AML sample with an inv(16) to identify mutations, which may collaborate with the CBFB/MYH11 fusion during leukemogenesis.     ///    Gene expression analysis of AML patients with CBFB/MYH11 rearrangement and FLT3 N676K mutation showed a trend toward a specific expression profile.     ///    \"In a cohort of 84 de novo AML patients with a CBFB/MYH11 rearrangement and in 36 patients with a RUNX1/RUNX1T1 rearrangement, the FLT3 N676K mutation was identified in 5 and 1 patients, respectively (5 [6%] of 84. \"'), ('2033', 'ETO_AML1', 't(8;21)(q22;q22) / inv(16)(p13q22) / ', 'ETO', 'AML1', '11107447', '211', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'At the molecular level, t(8;21)(q22;q22) and inv(16)(p13q22) result in the creation of novel fusion genes, AML1/ETO and CBF beta/MYH11, whose structures and functions are being successfully characterized by in vitro studies and transgenic animal models. '), ('2034', 'MYH11_CBF', 't(8;21)(q22;q22) / inv(16)(p13q22) / ', 'MYH11', 'CBF', '11107447', '211', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'At the molecular level, t(8;21)(q22;q22) and inv(16)(p13q22) result in the creation of novel fusion genes, AML1/ETO and CBF beta/MYH11, whose structures and functions are being successfully characterized by in vitro studies and transgenic animal models. '), ('2035', 'RUNX1T1_RUNX1', 't(8;21)  / inv(16) / t(16;16)  / inv(16)  / ', 'RUNX1T1', 'RUNX1', '23878140', '211', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Since the expression of the fusion genes CBFB/MYH11 or RUNX1/RUNX1T1 alone is not sufficient to cause leukemia, we performed exome sequencing of an AML sample with an inv(16) to identify mutations, which may collaborate with the CBFB/MYH11 fusion during leukemogenesis.     ///    \"In a cohort of 84 de novo AML patients with a CBFB/MYH11 rearrangement and in 36 patients with a RUNX1/RUNX1T1 rearrangement, the FLT3 N676K mutation was identified in 5 and 1 patients, respectively (5 [6%] of 84. \"'), ('2036', 'ETO_AML1', 't(8;21)  / t(8;21)(q22;q22) / ', 'ETO', 'AML1', '18469864', '210', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' t(8;21)(q22;q22) results in the AML1-ETO (A1E) fusion gene and is a common cytogenetic abnormality in acute myeloid leukemia (AML).     ///    Identification and characterization of novel AML1-ETO fusion transcripts in pediatric t(8;21) acute myeloid leukemia: a report from the Children\'s Oncology Group.. '), ('2037', 'PDGFRA_FOXP1', 't(3;4)(p13;q12) / ', 'PDGFRA', 'FOXP1', '26319757', '210', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' We identified a novel fusion gene, FOXP1-PDGFRA, in a patient with myeloproliferative neoplasm (MPN) with eosinophilia, harboring the chromosome abnormality t(3;4)(p13;q12).     ///    A novel FOXP1-PDGFRA fusion gene in myeloproliferative neoplasm with eosinophilia..     ///    This is the first report to describe the FOXP1-PDGFRA fusion gene in MPN.     ///    Comparing genomic DNA with mRNA sequences provides the possibility that the splicing process near the breakpoint junction in the FOXP1-PDGFRA fusion gene may use the normal splice donor site for intron 23a of FOXP1 and the cryptic splice acceptor site in exon 12 of PDGFRA. '), ('2038', 'MLL_ELL', 't(11;19)(q23;p13) / 19p13.1 / t(8;19;11)(q24;p13;q23) / ', 'MLL', 'ELL', '26949571', '210', 'myeloid leukemia', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', 'Seq', ' The chromosomal translocation t(11;19)(q23;p13) with a breakpoint within subband 19p13.1 is found mainly in acute myeloid leukemia (AML) and results in the MLL-ELL fusion gene.     ///    \"Based on our findings and information on a few previously reported patients, we speculate that young age, myelomonoblastic AML, and the presence of extramedullary disease may be typical of children with rare MLL-ELL fusion transcripts.. \"    ///    Rare MLL-ELL fusion transcripts in childhood acute myeloid leukemia-association with young age and myeloid sarcomas?.     ///    Variations in the structure of MLL-ELL seem to influence the leukemogenic potency of the fusion in vivo and may lie behind differences in clinical features.     ///    The number of cases reported so far is very limited and the addition of more information about MLL-ELL variants is essential if the possible clinical significance of rare fusions is to be determined.     ///    RNA-sequencing showed that the translocation had generated an MLL-ELL chimera in which exon 9 of MLL (nt 4241 in sequence with accession number NM_005933.3) was fused to exon 6 of ELL (nt 817 in sequence with accession number NM_006532.3). '), ('2039', 'JJAZ1_JAZF1', 't(7;17)(p15;q21) / ', 'JJAZ1', 'JAZF1', '17365822', '209', 'chronic myeloid leukemia;endometrial cancer', '', '', '', '', '', '', '', '', 'ESS and ESN share the fusion gene JAZF1/JJAZ1 caused by a t(7;17)(p15;q21) translocation, whereas UES lacks a distinctive molecular alteration so far. '), ('2040', 'TFE3_ASPL', 'p11;q25 / ', 'TFE3', 'ASPL', '19384069', '209', 'alveolar soft part sarcoma', '', '', '', '', '', '', '', '', 'It is associated with a specific unbalanced translocation, der(17)t(X;17)(p11;q25) that results in the formation of an ASPL-TFE3 fusion gene.     ///    \"Molecular genetic study revealed fusion transcript ASPL-TFE3, type 2. \"'), ('2041', 'NPM_MLF1', 't(3;5) / ', 'NPM', 'MLF1', '8570204', '209', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', '', '', '', '', '', '', '', '', 'The t(3;5)(q25.1;q34) of myelodysplastic syndrome and acute myeloid leukemia produces a novel fusion gene, NPM-MLF1..     ///    \"By contrast, t(3;5)-positive leukemia cells expressed a 54 kDa NPM-MLF1 protein, but not normal MLF1. \"    ///    RNA-based polymerase chain reaction analysis revealed identical NPM-MLF1 mRNA fusions in each of the three t(3;5)-positive cases of AML examined.     ///    \"Immunostaining experiments indicated that MLF1 is normally located in the cytoplasm, whereas NPM-MLF1 is targeted to the nucleus, with highest levels in the nucleolus. \"    ///    \"The nuclear/nucleolar localization of NPM-MLF1 mirrors that of NPM, indicating that NPM trafficking signals direct MLF1 to an inappropriate cellular compartment in myeloid leukemia cells.. \"'), ('2042', 'NPM_ALK', 't(5;17)  / t(5;17)(q32;q12) / t(2;5)  / t(15;17)  / t(11;17)  / ', 'NPM', 'ALK', '8562957', '209', 'acute promyelocytic leukemia;leukemia;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The NPM sequences contained in the shorter NPM-RAR cDNA are identical to the NPM sequences contained in the NPM-ALK fusion gene expressed in t(2;5) lymphomas. '), ('2043', 'FLI_EWS', 't(11;22)  / ', 'FLI', 'EWS', '16052075', '209', 'ewing sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Identification of a specific translocation especially t(11;22) (EWS-FLI 1 fusion gene), which is seen in nearly 85 percent of Ewing\'s sarcoma cases can help in precise diagnosis.     ///    Ninety percent (18/20) of the samples tested were found to be t(11;22) translocations involving EWS-FLI 1 genes.     ///    This is the first study in India with quantitative information about the types of EWS-FLI 1 translocations present in Ewing\'s family of tumours in south Indian patients.. '), ('2044', 'FUS_CHOP', 't(12;16)(q13;p11) / ', 'FUS', 'CHOP', '9785008', '209', 'liposarcoma;fibrous histiocytoma;sarcoma;histiocytoma\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' The reciprocal translocation t(12;16)(q13;p11) has been shown to be highly characteristic of myxoid and round cell subtypes of liposarcoma, and the TLS/FUS-CHOP fusion gene that resulted from the translocation is expected to be a diagnostic molecular marker of these sarcomas.     ///    \"In this study, we conducted a nested reverse transcription-polymerase chain reaction (RT-PCR)-based assay to detect the TLS/FUS-CHOP fusion gene transcripts using archival formalin-fixed, paraffin-embedded tumor specimens. \"    ///    \"A sequence analysis using the PCR products confirmed that the detected messages were derived from either type I or type II TLS/FUS-CHOP fusion gene, the latter of which was predominant (80%). \"    ///    Detection of TLS/FUS-CHOP fusion transcripts in myxoid and round cell liposarcomas by nested reverse transcription-polymerase chain reaction using archival paraffin-embedded tissues.. ');
INSERT INTO `ChimerPub_dump` VALUES ('2045', 'RAP1GDS1_NUP98', 't(4;11)(q21;p15) / ', 'RAP1GDS1', 'NUP98', '11325654', '209', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', '', ' The NUP98/RAP1GDS1 (NRG) is a new fusion gene, originating from the t(4;11)(q21;p15) translocation, that characterizes a subset of T-cell acute lymphoblastic leukemia (T-ALL).     ///    Molecular evaluation of the NUP98/RAP1GDS1 gene frequency in adults with T-acute lymphoblastic leukemia.. '), ('2046', 'FLI_EWS', 't(11;22)(q24;q12) / ', 'FLI', 'EWS', '15618851', '209', 'neuroectodermal tumor\r\r', '', '', '', '', '', '', '', '', ' Although PNETs are rare malignancies, they should be considered in the differential diagnosis of submucosal gastric tumours in adolescents with clinical alarm symptoms.NET was confirmed by detection of the characteristic EWS/FLI-1 fusion gene, resulting in a reciprocal translocation t(11;22)(q24;q12). '), ('2047', 'PBX1_EWSR1', 't(1;22)(q23;q12) / ', 'PBX1', 'EWSR1', '18383210', '209', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia;myoepithelial tumor\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Detection of a t(1;22)(q23;q12) translocation leading to an EWSR1-PBX1 fusion gene in a myoepithelioma..     ///    A novel EWSR1-PBX1 fusion gene consisting of exons 1-8 of the 5\'-end of EWSR1 and exons 5-9 of the 3\'-end of PBX1 was shown to result from the translocation. '), ('2048', 'EWS_CHOP', 't(12;16)  / t(12;22)  / ', 'EWS', 'CHOP', '12907366', '209', 'liposarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Rare cases of MLS show a variant t(12;22) translocation, resulting in EWS-CHOP fusion gene.     ///    The remaining 1 case showed an EWS-CHOP fusion transcript.     ///    \"To examine whether the molecular variability of TLS-CHOP or EWS-CHOP fusion transcript structure is associated with the degree of inhibition of adipogenesis, a comparative ultrastructural and RT-PCR-based analysis of 14 MLS was performed. \"'), ('2049', 'TEL_AML1', 't(12;21)  / ', 'TEL', 'AML1', '15155899', '209', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The t(12;21) translocation, which generates the TEL-AML1 (ETV6-RUNX1) fusion gene, is the most common structural chromosome change in childhood cancer and is exclusively associated with the common B cell precursor subset of acute lymphoblastic leukemia (ALL).     ///    Modeling first-hit functions of the t(12;21) TEL-AML1 translocation in mice..     ///    TEL-AML1 expression was associated with an accumulation/expansion of primitive c-kit-positive multipotent progenitors and a modest increase in myeloid colony-forming cells.     ///    \"TEL-AML1 expression was, however, permissive for myeloid differentiation. \"    ///    The mechanism by which TEL-AML1 contributes to this early stage of leukemogenesis is unknown. '), ('2050', 'RARA_PLZF', 't(11;17) / t(5;17) / ', 'RARA', 'PLZF', '8721678', '209', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'However, a small subset of APL patients have a different fusion gene, PLZF-RARA, resulting from the variant translocation t(11;17).     ///    Current data suggest that PML-RAR alpha and PLZF-RAR alpha fusion receptors may play an important role in the development of APL and that PML-RAR alpha could be the target of ATRA differentiation therapy. '), ('2051', 'NFIB_MYB', 't(6;9)  / ', 'NFIB', 'MYB', '20203221', '209', 'adenoid cystic carcinoma\r\r', '', '', '', '', '', '', 'KB', '', 'These tumours, regardless of the anatomical site, are characterised by expression of the proto-oncogene and therapeutic target c-KIT, and seem to harbour a specific chromosomal translocation t(6;9) leading to the fusion gene MYB-NFIB and overexpression of the oncogene MYB.     ///    \"These tumours, regardless of the anatomical site, are characterised by expression of the proto-oncogene and therapeutic target c-KIT, and seem to harbour a specific chromosomal translocation t(6;9) leading to the fusion gene MYB-NFIB and overexpression of the oncogene MYB.\"'), ('2052', 'RUNX1_ETO', 't(8;21)  / t(8;21)(q22;q22) / ', 'RUNX1', 'ETO', '12381450', '209', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Uncommon chromosome changes may lead to the identification of leukemogenetic factors associated with t(8;21) since the AML1/RUNX1-ETO fusion gene resulting from the translocation is thought to be unable alone to induce leukemia. '), ('2053', 'ETO_AML1', 't(8;21)(q22;q22) / ', 'ETO', 'AML1', '11463839', '209', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The fusion gene AML1-ETO is the product of t(8;21)(q22;q22), one of the most common chromosomal translocations associated with acute myeloid leukemia.     ///    \"The proliferation of AML1-ETO(+) cells was markedly reduced, and most of the cells eventually underwent apoptosis. \"    ///    Dichotomy of AML1-ETO functions: growth arrest versus block of differentiation..     ///    AML1-ETO is tightly and strongly induced upon tetracycline withdrawal.     ///    \"Prior to the onset of apoptosis, we also studied the ability of AML1-ETO to modulate differentiation. \"    ///    \"These observations suggest a dichotomy in the functions of AML1-ETO: (i) reduction of granulocytic differentiation correlated with decreased expression of C/EBPalpha and (ii) growth arrest leading to apoptosis with decreased expression of CDK4, c-myc, and Bcl-2. \"    ///    AML1-ETO expression altered granulocytic differentiation of U937T-A/E cells.     ///    RNase protection assays revealed that the amount of Bcl-2 mRNA was decreased after AML1-ETO induction. '), ('2054', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '11807007', '209', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', ' Acute promyelocytic leukemia (APL) is characterized by the specific chromosome translocation t(15;17) with promyelocytic leukemia-retinoic acid receptor-alpha (PML-RARA) fusion gene and the ability to undergo terminal differentiation as an effect of all-trans retinoic acid (ATRA). '), ('2055', 'TEL_AML1', 't(12;21)  / ', 'TEL', 'AML1', '9277052', '209', 'acute lymphoblastic leukemia;chronic myeloid leukemia;myeloid leukemia;lymphoblastic leukemia;leuk\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Among these fusion genes, the TEL/AML1 translocation resulting from t(12;21) is found in approximately one quarter of the childhood B-cell lineage acute lymphoblastic leukemia (ALL) cases and its prognosis is excellent.     ///    TEL/AML1 fusion gene resulting from a cryptic t(12;21) is uncommon in adult patients with B-cell lineage ALL and CML lymphoblastic transformation..     ///    \"We examined 42 adult patients with B-cell lineage ALL and 13 adult patients with lymphoblastic transformation of chronic myeloid leukemia (CML) to detect TEL/AML1 fusion genes using the reverse transcriptase-polymerase chain reaction (RT-PCR) and Southern blotting, but no translocation was detected. \"    ///    These findings indicate that absence of the TEL/AML1 fusion transcript partly correlates with the poorer outcome of adult B-cell lineage ALL as compared with childhood ALL and the TEL/AML1 fusion transcript is specific for pediatric B-cell lineage ALL.. '), ('2056', 'NPM_ALK', 't(2;5) (p23;q35) / ', 'NPM', 'ALK', '15588951', '209', 'anaplastic large cell lymphoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' Anaplastic large-cell lymphomas (ALCL) are frequently associated with the chromosomal translocation t(2;5) (p23;q35) resulting in the NPM/ALK fusion gene that encodes a constitutively activated tyrosine kinase.     ///    NPM/ALK downregulates p27Kip1 in a PI-3K-dependent manner..     ///    In this study we investigated the role of PI-3K/AKT in NPM/ALK-dependent downregulation of p27Kip1 protein.     ///    \"p27Kip1 was found to be downregulated in NPM/ALK-transformed hematopoietic cells, but inhibition of proteasome-dependent degradation pathway by epoxomicin reversed this effect. \"    ///    \"Taken together, we postulate that NPM/ALK-PI-3K pathway stimulates cell proliferation by regulation of the expression and nuclear localization of p27Kip1.. \"    ///    \"To investigate this phenomenon the pro-B cell line BaF3, BaF3 cell line stably expressing NPM/ALK, and ALCL SUP-M2 cell line were used. \"    ///    We showed that NPM/ALK stimulated cell proliferation and that PI-3K/AKT pathway played an important role in this effect. '), ('2057', 'TPM3_ALK', 'p23;q35 / t(1;2)(q25;p23) / t(2;3)(p23;q21) / ', 'TPM3', 'ALK', '10807789', '209', 'lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'However, the ALK gene at 2p23 may also be involved in 2 variant translocations, namely t(1;2)(q25;p23) and t(2;3)(p23;q21), which create the TPM3-ALK and TFG-ALK fusion genes, respectively. '), ('2058', 'NUT_BRD4', 't(15;19) / t(15;19)(q13;p13) / ', 'NUT', 'BRD4', '16435379', '209', 'ewing sarcoma;sarcoma\r\r', '', 'Kinase', '', '', '', '', 'KB', '', ' A subset of poorly differentiated carcinomas is characterized by the translocation t(15;19)(q13;p13), resulting in a BRD4/NUT fusion gene.     ///    \"The findings show that t(15;19)-BRD4/NUT-positive tumors may arise in locations more typical for other pediatric tumors, such as Ewing sarcoma, and that they not always display epithelial differentiation. \"    ///    We here present the successful treatment of a 10-year-old boy who presented with a BRD4/NUT-positive undifferentiated tumor in the iliac bone. '), ('2059', 'ETO_AML1', 't(8;21)  / t(8;21) / ', 'ETO', 'AML1', '16294039', '209', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'With an incidence of up to 12% in all AML cases, the translocation t(8;21), forming the AML1-ETO fusion gene, is one of the most common genetic aberrations in AML.     ///    \"These data are supported by observations in AML patients, who recurrently show activating mutations of the receptor tyrosine kinase FLT3 or c-KIT together with the AML1-ETO fusion gene. \"    ///    AML1-ETO needs a partner: new insights into the pathogenesis of t(8;21) leukemia..     ///    \"Experimental data have shown that AML1-ETO is not sufficient to induce leukemia by itself, but has to collaborate with other genetic alterations for leukemic transformation. \"'), ('2060', 'CALM_AF10', 't(10;11)(p13;q14-21) / ', 'CALM', 'AF10', '18094714', '209', 'leukemia;hematologic malignancy\r\r', '', '', '', '', '', '', '', '', 'The t(10;11)(p13;q14-21) results in a recently identified rare but recurring chromosomal translocation seen in patients with ALL as well as AML, and results in the production of a CALM-AF10 fusion gene.     ///    The role of CALM-AF10 gene fusion in acute leukemia..     ///    \"This review discusses the normal structure and function of CALM and AF10, describes the spectrum of clinical findings seen in patients with CALM-AF10 fusions, summarizes recently published CALM-AF10 mouse models and highlights the role of HOXA cluster gene activation in CALM-AF10 leukemia.. \"    ///    \"Although the details by which the CALM-AF10 fusion protein exerts its leukemogenic effect remain unclear, emerging data suggests that the CALM-AF10 fusion impairs differentiation of hematopoietic cells, at least in part via an upregulation of HOXA cluster genes. \"'), ('2061', 'CLTC_ALK', 't(2;5)(p23;q35) / t(1;2)(q25;p23) / t(2;3)(p23;q21) / t(2;17)(p23;q23) / inv(2)(p23q35) / ', 'CLTC', 'ALK', '15208656', '209', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Recent studies demonstrated that ALK may also be involved in variant translocations, namely, t(1;2)(q25;p23), t(2;3)(p23;q21), t(2;17)(p23;q23) and inv(2)(p23q35), which create the TPM3-ALK, TFG-ALK5, CLTC-ALK, and ATIC-ALK fusion genes, respectively.     ///    \"We stably transfected the cDNAs coding for NPM-ALK, TPM3-ALK, TFG-ALK, CLTC-ALK or ATIC-ALK into nonmalignant NIH3T3 cells.\"    ///    \"We stably transfected the cDNAs coding for NPM-ALK, TPM3-ALK, TFG-ALK, CLTC-ALK or ATIC-ALK into nonmalignant NIH3T3 cells. \"'), ('2062', 'CLTC_ALK', 't(2;17;8)(p23;q23;p23) / ', 'CLTC', 'ALK', '24142740', '209', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'The peripheral blood leukocytes revealed the t(2;17;8)(p23;q23;p23) translocation and a CLTC-ALK fusion gene, which have never been reported in BPDCN or in any myeloid malignancies thus far.     ///    \"Neonatal blood spots on the patient\'s Guthrie card were analyzed for the presence of the CLTC-ALK fusion gene, identifying the in utero origin of the leukemic cell. \"    ///    \"This is the first report of the CLTC-ALK fusion gene being associated with a myeloid malignancy, which may give us an important clue to the origin of this rare neoplasm.. \"    ///    \"Although the leukemic cells were positive for CD4, CD56, CD123, and CD303, indicating a plasmacytoid dendritic cell phenotype, detailed analysis of the lineage distribution of CLTC-ALK revealed that part of monocytes, neutrophils, and T cells possessed the fusion gene and were involved in the leukemic clone.\"    ///    \"Although the leukemic cells were positive for CD4, CD56, CD123, and CD303, indicating a plasmacytoid dendritic cell phenotype, detailed analysis of the lineage distribution of CLTC-ALK revealed that part of monocytes, neutrophils, and T cells possessed the fusion gene and were involved in the leukemic clone. \"    ///    These results indicated that leukemic cells with CLTC-ALK originated in a multipotent hematopoietic progenitor in utero.     ///    CLTC-ALK fusion as a primary event in congenital blastic plasmacytoid dendritic cell neoplasm.. '), ('2063', 'PAX7_FKHR', 't(2;13)(q35;q14) / t(1;13)(p36;q14) / ', 'PAX7', 'FKHR', '16337856', '209', 'rhabdomyosarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' The most common types of rhabdomyosarcoma (RMS) are alveolar RMS (ARMS), which are characterized by the specific translocation t(2;13)(q35;q14) or its rarer variant, t(1;13)(p36;q14), producing the fusion genes PAX3-FKHR and PAX7-FKHR, respectively, and embryonal RMS (ERMS), which is characterized by multiple numeric chromosome changes.     ///    \"In patient 2, the cytogenetic finding of multiple trisomies was compatible with the initial histopathologic diagnosis of ERMS, but the finding of a PAX7-FKHR fusion transcript by RT-PCR pointed to the diagnosis of ARMS. \"'), ('2064', 'PAX3_FKHR', 't(2;13)(q35;q14) / t(1;13)(p36;q14) / ', 'PAX3', 'FKHR', '16337856', '209', 'rhabdomyosarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' The most common types of rhabdomyosarcoma (RMS) are alveolar RMS (ARMS), which are characterized by the specific translocation t(2;13)(q35;q14) or its rarer variant, t(1;13)(p36;q14), producing the fusion genes PAX3-FKHR and PAX7-FKHR, respectively, and embryonal RMS (ERMS), which is characterized by multiple numeric chromosome changes.     ///    The cytogenetic analysis of patient 1 revealed a t(2;13)(q35;q14) and the RT-PCR study detected the corresponding PAX3-FKHR chimeric transcript. '), ('2065', 'TFG_ALK', 'p23;q35 / t(1;2)(q25;p23) / t(2;3)(p23;q21) / ', 'TFG', 'ALK', '10807789', '209', 'lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'However, the ALK gene at 2p23 may also be involved in 2 variant translocations, namely t(1;2)(q25;p23) and t(2;3)(p23;q21), which create the TPM3-ALK and TFG-ALK fusion genes, respectively. '), ('2066', 'ETO_AML1', 't(15;17)  / t(8;21)  / ', 'ETO', 'AML1', '19491417', '209', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The chromosomal translocation t(15;17) results in PML/RARalpha fusion gene, t(8;21) results in AML1/ETO fusion gene and Inv 16 generates CBFbeta/MYH11 fusion gene.     ///    AML1-ETO fusion transcript was detected in 16 of 56 patients with no correlation with clinical or haematological parameters.     ///    \"RT-PCR was performed to identify PML/RARalpha, AML1/ETO, CBFbeta/MYH11 and FLT3 nternal tandem duplication (ITD). \"'), ('2067', 'CALM_AF10', 't(10;11)  / ', 'CALM', 'AF10', '23487024', '209', 'leukemia;hematopoietic malignancy\r\r', '', '', '', '', '', '', '', '', ' The t(10;11) chromosomal translocation gives rise to the CALM-AF10 fusion gene and is found in patients with aggressive and difficult-to-treat hematopoietic malignancies.     ///    These findings uncover a novel mechanism of leukemogenesis mediated by the nuclear export pathway and support further investigation of the utility of nuclear export inhibitors as therapeutic agents for patients with CALM-AF10 leukemias..     ///    \"Finally, we observed that CALM-AF10 leukemia cells are selectively sensitive to inhibition of nuclear export by Leptomycin B. \"'), ('2068', 'CALM_AF10', 't(10;11)  / ', 'CALM', 'AF10', '24397609', '209', 'acute myeloid leukemia;myeloid leukemia;leukemia;hematopoietic malignancy\r\r', '', '', '', '', '', '', '', '', ' The CALM-AF10 fusion gene, which results from a t(10;11) translocation, is found in a variety of hematopoietic malignancies.     ///    \"These results suggest that during leukemogenesis, CALM-AF10 plays its critical roles in the cytoplasm.. \"    ///    \"To investigate the influence of localization on leukemogenesis involving CALM-AF10, we determined the nuclear export signal (NES) within CALM that is necessary and sufficient for cytoplasmic localization of CALM-AF10. \"    ///    Certain HOXA cluster genes and MEIS1 genes are upregulated in patients and mouse models that express CALM-AF10.     ///    \"however, it is not clear where CALM-AF10 acts to induce leukemia. \"    ///    Mutations in the NES eliminated the capacity of CALM-AF10 to immortalize murine bone-marrow cells in vitro and to promote development of acute myeloid leukemia in mouse models. '), ('2069', 'RARA_PML', 't(15;17) / ', 'RARA', 'PML', '24053202', '209', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The specific translocation t(15;17), which results in the fusion gene PML-RARA is the diagnostic and pathomechanistic hallmark of APL. '), ('2070', 'RUNX1T1_RUNX1', 't(5;6)(q22;q23) / ', 'RUNX1T1', 'RUNX1', '23683787', '209', 'systemic mastocytosis\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'In 10 cases, RUNX1-RUNX1T1 fusion gene was detected, and one patient presented with a t(5;6)(q22;q23) translocation at diagnosis. '), ('2071', 'NPM_ALK', 't(14;18)  / t(11;14) / ', 'NPM', 'ALK', '22450142', '209', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The authors review the literature concerning monoclonal B-cell lymphocytosis, and the occurrence of chromosomal translocations t(14;18) and t(11;14), NPM-ALK fusion gene, JAK2 V617F mutation, BCR-ABL1 fusion gene, ETV6-RUNX1(TEL-AML1), MLL-AF4 and PML-RARA fusion gene in healthy individuals. '), ('2072', 'TFG_ALK', 't(2;5)(p23;q35) / t(1;2)(q25;p23) / t(2;3)(p23;q21) / t(2;17)(p23;q23) / inv(2)(p23q35) / ', 'TFG', 'ALK', '15208656', '209', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Recent studies demonstrated that ALK may also be involved in variant translocations, namely, t(1;2)(q25;p23), t(2;3)(p23;q21), t(2;17)(p23;q23) and inv(2)(p23q35), which create the TPM3-ALK, TFG-ALK5, CLTC-ALK, and ATIC-ALK fusion genes, respectively.     ///    \"We stably transfected the cDNAs coding for NPM-ALK, TPM3-ALK, TFG-ALK, CLTC-ALK or ATIC-ALK into nonmalignant NIH3T3 cells. \"'), ('2073', 'RET_FGFR1OP', 't(10;22)(q11;q11) / t(6;10)(q27;q11) / ', 'RET', 'FGFR1OP', '22513837', '209', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'We report here the cloning and functional characterization of two novel fusion genes BCR-RET and FGFR1OP-RET in chronic myelomonocytic leukemia (CMML) cases generated by two balanced translocations t(10;22)(q11;q11) and t(6;10)(q27;q11), respectively. '), ('2074', 'FUS_CREB3L2', 't(7,16)(q33;p11) /  / ', 'FUS', 'CREB3L2', '19605340', '209', 'histiocytoma', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Such analyses have demonstrated that most cases of LGFMS have a characteristic t(7,16)(q33;p11) translocation, resulting in the FUS-CREB3L2 fusion gene. '), ('2075', 'TEL_AML1', 't(14;18)  / t(11;14) / ', 'TEL', 'AML1', '22450142', '209', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'The authors review the literature concerning monoclonal B-cell lymphocytosis, and the occurrence of chromosomal translocations t(14;18) and t(11;14), NPM-ALK fusion gene, JAK2 V617F mutation, BCR-ABL1 fusion gene, ETV6-RUNX1(TEL-AML1), MLL-AF4 and PML-RARA fusion gene in healthy individuals. '), ('2076', 'PICALM_MLLT10', 't(10;11)(p12-13;q14-21) / ', 'PICALM', 'MLLT10', '22871473', '209', 'acute myeloid leukemia;myeloid leukemia;leukemia;B cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', 'KB', 'Seq', ' The PICALM-MLLT10 fusion gene, generated by the t(10;11)(p12-13;q14-21) translocation, is a rare but recurrent event in acute leukemias.     ///    PICALM-MLLT10 acute myeloid leukemia: a French cohort of 18 patients..     ///    Three out of four therapy-related PICALM-MLLT10 AMLs had been previously treated for diffuse large B-cell lymphoma.     ///    \"In this study, we assessed the characteristics and outcome of 18 PICALM-MLLT10 AML patients. \"    ///    \"As compared with non PICALM-MLLT10 patients (n=72), PICALM-MLLT10 AML were characterized by more frequent extramedullary diseases, CD7 expression and higher platelet counts. \"    ///    PICALM-MLLT10 patients had a shorter median overall survival than patients with favorable cytogenetics (12 months vs. '), ('2077', 'PAX3_FKHR', 't(2;13)  / t(1;13)  / ', 'PAX3', 'FKHR', '16849537', '209', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Most ARMS tumors express the PAX3-FKHR or PAX7-FKHR (PAX-FKHR) fusion genes resulting from the t(2;13) or t(1;13) chromosomal translocations, respectively.     ///    \"Using an ectopic PAX3-FKHR and PAX7-FKHR expression model, we identified an expression signature regulated by PAX-FKHR that is specific to PAX-FKHR-positive ARMS tumors. \"'), ('2078', 'PAX7_FKHR', 't(2;13)  / t(1;13)  / ', 'PAX7', 'FKHR', '16849537', '209', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Most ARMS tumors express the PAX3-FKHR or PAX7-FKHR (PAX-FKHR) fusion genes resulting from the t(2;13) or t(1;13) chromosomal translocations, respectively.     ///    \"Using an ectopic PAX3-FKHR and PAX7-FKHR expression model, we identified an expression signature regulated by PAX-FKHR that is specific to PAX-FKHR-positive ARMS tumors. \"'), ('2079', 'BCR_ABL1', 't(14;18)  / t(11;14) / ', 'BCR', 'ABL1', '22450142', '209', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The authors review the literature concerning monoclonal B-cell lymphocytosis, and the occurrence of chromosomal translocations t(14;18) and t(11;14), NPM-ALK fusion gene, JAK2 V617F mutation, BCR-ABL1 fusion gene, ETV6-RUNX1(TEL-AML1), MLL-AF4 and PML-RARA fusion gene in healthy individuals. '), ('2080', 'SYT_SSX', 'p11;q11 / ', 'SYT', 'SSX', '16142418', '209', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' More than 90% of synovial sarcomas (SSs) possess a non-random chromosomal translocation t(X;18)(p11;q11) and express SYT-SSX fusion gene products originating from the translocation.     ///    \"Thus, specific chromosomal translocation t(X;18) is likely to be an early event in the development of SSs, and the expression of SYT-SSX fusion gene products is thought to be crucial for the tumorigenesis of SSs.. \"    ///    Our results indicated that SS cells uniformly possessed the SYT-SSX fusion genes and expressed their transcripts.     ///    Reverse transcription-polymerase chain reaction in situ hybridization for SYT-SSX fusion gene transcripts in synovial sarcomas..     ///    \"To test whether it is possible to detect the SYT-SSX mRNA on archival formalin-fixed paraffin-embedded SS tissue sections using PCR-based in situ amplification technique, we performed reverse transcription-polymerase chain reaction in situ hybridization (RT-PCR ISH) for the SYT-SSX fusion gene mRNA. \"    ///    \"In three types of SSs, monophasic fibrous, biphasic and poorly differentiated, NBT/BCIP signals corresponding to SYT-SSX mRNA were uniformly and predominantly positive in the sarcoma cell cytoplasm. \"'), ('2081', 'MYB_NFIB', 't(6;9)  / ', 'MYB', 'NFIB', '25516849', '209', 'adenoid cystic carcinoma;breast cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Many discoveries regarding the molecular and genetic features of the ACC, including a specific chromosomal translocation t(6;9) that results in a MYB-NFIB fusion gene, have been made in recent years. '), ('2082', 'HLF_E2A', 't(17;19)  / ', 'HLF', 'E2A', '19954622', '209', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', '', '', 'Two patients with E2A-HLF fusion gene, which is generated by t(17;19) (q22, p13) translocation, suffered relapse of leukemia three months after chemotherapy, and developed severe hypercalcemia.     ///    \" To improve the understanding of severe hypercalcemia complicated in acute lymphoblastic leukemia (ALL) with E2A-HLF fusion gene, and to explore the mechanism of pathogenesis and the relationship between the special gene translocation and severe hypercalcemia. \"    ///    [Severe hypercalcemia complicated in acute lymphoblastic leukemia (ALL) with E2A-HLF fusion gene: report of two cases and literature review]..     ///    \"In B cell lymphoblastic leukemia with E2A-HLF fusion gene, the fusion gene showed be closely monitored for evaluating the disease situation.. \"'), ('2083', 'SYT_SSX', 'p11;q11 / ', 'SYT', 'SSX', '12707378', '209', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' Synovial sarcomas (SS) are characterized by the t(X;18)(p11;q11) translocation and its resultant fusion gene, SYT-SSX.     ///    \"The f-LDR results were compared to XmnI enzyme digestion patterns and sequencing of PCR products, revealing a 100% concordance for all cases of SS with regards to SYT-SSX transcript type. \"    ///    \"Evaluation of this unique approach in 11 cases of SS without prior knowledge of SYT-SSX status, six cases of control sarcomas (CS) and three hematopoietic cell lines, revealed that the f-LDR technique was rapid, unambiguous, and highly specific. \"    ///    Identification of SYT-SSX fusion type is typically accomplished by reverse-transcription polymerase chain reaction (RT-PCR) followed by a post-PCR analytic method.     ///    \"Thus, detection of the presence and type of SYT-SSX fusion is critical for diagnosis and prognosis in SS. \"    ///    \"As mRNA nucleotide sequences of the SSX1 and SSX2 segments involved in the SYT-SSX fusion are nearly identical, post-PCR methods must be highly discriminatory. \"    ///    Novel fluorescent ligase detection reaction and flow cytometric analysis of SYT-SSX fusions in synovial sarcoma.. '), ('2084', 'JAK2_BCR', 't(9;22) / p24;q11.2 / ', 'JAK2', 'BCR', '23904814', '209', 'chronic myeloid leukemia', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' We report here on a rare case of BCR-ABL1-negative atypical chronic myeloid leukemia with a t(9;22)(p24;q11.2)translocation and a BCR-JAK2 fusion gene, with resistance to the tyrosine kinase inhibitors imatinib and dasatinib.At two years of follow-up, the patient showed no hematologic response and was submitted to an allogeneic bonemarrow transplantation.     ///    \"Atypical chronic myeloid leukemia with t(9;22)(p24,11.2), a BCR-JAK2 fusion gene.. \"    ///    \"This BCR-JAK2 fusion gene has so far been found in only five patients in the whole world, with three clinical presentations: myeloproliferative neoplasm, acute lymphoblastic leukemia and acute myeloid leukemia. \"'), ('2085', 'TEL_AML1', 't(12;21)(p13;q22) / ', 'TEL', 'AML1', '12491511', '209', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' The translocation t(12;21)(p13;q22), which produces the TEL/AML1 fusion gene, is the most frequent chromosomal abnormality in patients with childhood acute lymphoblastic leukemia (ALL) and generally is associated with a favorable prognosis.     ///    Slower molecular response to treatment predicts poor outcome in patients with TEL/AML1 positive acute lymphoblastic leukemia: prospective real-time quantitative reverse transcriptase-polymerase chain reaction study..     ///    The authors employed RQ-reverse transcriptase-PCR (RQ-RT-PCR) technology to analyze MRD levels in 57 newly diagnosed patients with TEL/AML1 positive ALL in a prospective study.     ///    The data demonstrate that patients with TEL/AML1 positive ALL had a better response to induction chemotherapy on Day + 33 compared with a group of unselected patients with ALL (P = 0.0001).     ///    \"The authors conclude that, although the TEL/AML1 positive leukemias generally are associated with a favorable outcome, MRD positivity assessed by RQ-RT-PCR analysis at the end of induction therapy represents a significantly negative prognostic feature.. \"    ///    \"Furthermore, real-time quantitative-polymerase chain reaction (RQ-PCR)-based detection of TEL/AML1 represents an accurate technique for the reproducible assessment of minimal residual disease (MRD). \"    ///    \"However, four patients with TEL/AML1 positive ALL developed relapse disease. \"'), ('2086', 'ETO_AML1', 't(8;21)(q22;q22) / ', 'ETO', 'AML1', '23613269', '209', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' The fusion gene AML1/ETO is a molecular marker for monitoring minimal residual disease (MRD) in acute myeloid leukemia with the t(8;21)(q22;q22) translocation.     ///    Patients whose AML1/ETO transcripts decreased by more than 2?log at CR had higher RFS (P?=?0.02).     ///    Quantitative analysis showed that there was no trend where higher relapse rate occurred in patients with higher levels of AML1/ETO transcripts at diagnosis (P?>?0.05).     ///    An increase of AML1/ETO transcripts (0.5?log) at any time after CR indicated increased risk of relapse (P?=?0.002).     ///    \"In the qualitative group, AML1/ETO in 71.88 and 95.45?% patients became negative at six and 24?months after CR, respectively. \"    ///    Our study shows that both qualitative and quantitative detection of AML1/ETO have prognostic value in MRD monitoring.     ///    Negative or continuous low expression of AML1/ETO indicates increased disease-free survival..     ///    \"Patients negative for AML1/ETO at 6-12?months and 12-18?months after CR had lower relapse rate (P?=?0.003 and 0.000), higher relapse-free survival (RFS) (P?=?0.000 and 0.000), and overall survival (P?=?0.001 and 0.000) than patients with positive AML1/ETO. \"    ///    \"At the checkpoints of 3 and 5/6?months after CR, patients with lower AML1/ETO copy numbers showed lower probability of relapse (P?=?0.039 and 0.004). \"    ///    \"To evaluate the dynamic variation and prognostic significance of AML1/ETO, bone marrow samples from 52 patients at different periods were examined qualitatively (32 patients) or quantitatively (20 patients) using nested RT-PCR and RQ-PCR, respectively. \"'), ('2087', 'RET_BCR', 't(10;22)(q11;q11) / t(6;10)(q27;q11) / ', 'RET', 'BCR', '22513837', '209', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'We report here the cloning and functional characterization of two novel fusion genes BCR-RET and FGFR1OP-RET in chronic myelomonocytic leukemia (CMML) cases generated by two balanced translocations t(10;22)(q11;q11) and t(6;10)(q27;q11), respectively. '), ('2088', 'SYT_SSX', 'p11;q11 / ', 'SYT', 'SSX', '9428816', '209', 'synovial sarcoma;sarcoma\r\r', 'RT-PCR', '', '', '', '', '', '', '', 'A characteristic SYT-SSX fusion gene resulting from the chromosomal translocation t(X;18)(p11;q11) is detectable in almost all synovial sarcomas.     ///    SYT-SSX gene fusion as a determinant of morphology and prognosis in synovial sarcoma..     ///    We attempted to determine the influence of the two alternative forms of the SYT-SSX fusion gene on tumor morphology and clinical outcome in patients with this sarcoma.     ///    The type of SYT-SSX fusion transcript correlates with both the histologic subtype and the clinical behavior of synovial sarcoma.     ///    SYT-SSX fusion transcripts are a defining diagnostic marker of synovial sarcomas and may also yield important independent prognostic information..     ///    We analyzed SYT-SSX fusion transcripts in 45 synovial sarcomas (33 monophasic and 12 biphasic) by the reverse-transcriptase polymerase chain reaction and compared the results with relevant clinical and pathological data.     ///    \"There were no significant correlations between the type of SYT-SSX transcript and age, sex, tumor location and size, whether there were metastases at diagnosis, or whether patients underwent chemotherapy. \"'), ('2089', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '19458628', '209', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' AML1-ETO fusion gene is generated from chromosomal translocation t(8;21) mainly in acute myeloid leukemia M2 subtype (AML-M2). '), ('2090', 'PCM1_JAK2', 't(8;9)(p22;p24) / ', 'PCM1', 'JAK2', '22288769', '209', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Chronic eosinophilic leukemia with erythroblastic proliferation and the rare translocation t(8;9)(p22;p24) with PCM1-JAK2 fusion gene: a distinct clinical, pathological and genetic entity with potential treatment target?. '), ('2091', 'SSX2_SS18', 'p11.2;q11.2 / ', 'SSX2', 'SS18', '22550415', '209', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Over 90% of SS cases are characterized by the t(X;18)(p11.2;q11.2) translocation, which results mainly in the formation of SS18-SSX1 or SS18-SSX2 fusion genes. '), ('2092', 'ME2_KMT2A', 't(11;18) / inv(16)(p13.1;q22) / ', 'ME2', 'KMT2A', '26556690', '209', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', '', '', 'Long-term remission of therapy-related acute myeloid leukemia with a new t(11;18)(q23;q21.2) translocation and KMT2A-ME2 (MLL-ME2) fusion gene..     ///    \" We describe a unique case of a woman with acute myeloid leukemia with a new, previously undescribed translocation, t(11;18)(q23;q21.2), affecting the KMT2A (MLL) gene and resulting in an KMT2A(MLL)-ME2 fusion. \"'), ('2093', 'TEL_AML1', 't(12;21)(p13;q22) / t(12;21)  / ', 'TEL', 'AML1', '9050885', '209', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The ETV6/CBFA2 (TEL/AML1) fusion gene occurs as a result of the chromosome translocation t(12;21)(p13;q22) in up to 30% of children diagnosed with B cell precursor (cd10+, cd19+) acute lymphoblastic leukemia.     ///    Functional characterization of ETV6 and ETV6/CBFA2 in the regulation of the MCSFR proximal promoter..     ///    Our results also indicate that the transactivation characteristics of ETV6/CBFA2 are a combination of positive and negative regulatory properties..     ///    \"Our data show that the inhibition mediated by ETV6 and ETV6/CBFA2, in the context of the MCSFR promoter, depend on interactions with other proteins, not just CBFA2B. \"    ///    We have shown that a 29-bp region of the MCSFR promoter containing the binding sites for CBFA2B and C/EBPa is sufficient for the inhibition by ETV6 and ETV6/CBFA2.     ///    \"However, both ETV6 and ETV6/CBFA2 inhibit the activation of the promoter by CBFA2B(AML1B) and C/EBPa. \"    ///    Deletion of the helix-loop-helix (HLH) region from the cDNAs of ETV6 and ETV6/CBFA2 decreased but did not completely abrogate the ability of either construct to inhibit promoter activation.     ///    Mutational analysis of the MCSFR promoter revealed that binding of both CBFA2B and C/EBPa to their respective sites is necessary for the inhibition by ETV6 and ETV6/CBFA2.     ///    \"Neither ETV6 or ETV6/CBFA2 has any significant, detectable effect on the promoter by itself. \"    ///    Using reporter gene assays we have functionally characterized both the normal ETV6 and ETV6/CBFA2 fusion proteins in the regulation of the MCSFR proximal promoter. '), ('2094', 'NFATC2_EWSR1', 't(20;22) / t(20;22)  / ', 'NFATC2', 'EWSR1', '24758504', '209', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', '', 'Detailed molecular analysis in both tumors confirmed translocation t(20;22) resulting in an EWSR1-NFATc2 fusion gene.     ///    [Where does Ewing sarcoma end and begin - two cases of unusual bone tumors with t(20;22)(EWSR1-NFATc2) alteration].. '), ('2095', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '25860287', '209', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', ' The reason that a certain subgroup of acute myeloid leukemia (AML) patients with t(8;21) translocation (generating the AML1/ETO fusion gene) displays a poor survival remains elusive.     ///    High c-kit expression was associated with inferior overall and event-free survival in AML1/ETO-positive patients and was independently predictive for overall and event-free survival in multivariate analyses in a c-kit mutation-independent manner.     ///    \"Thus, high c-kit expression serves as a reliable molecular marker for poor prognosis, supporting a pathogenetic role of c-kit signaling in AML1/ETO-positive AML. \"    ///    High c-kit expression was associated with AML1/ETO-positive and with c-kit mutation.     ///    AML1/ETO-positive patients with high c-kit expression might benefit from early treatment modifications and molecular target therapies.     ///    \"Of note, 35.8% of the AML1/ETO-positive AML patients carrying wild-type c-kit expressed high levels of c-kit, suggesting that other factors are involved in c-kit overexpression. \"'), ('2096', 'RUNX1_ETV6', 't(12;21)  / ', 'RUNX1', 'ETV6', '22404039', '209', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' The chromosomal translocation t(12;21) resulting in the ETV6/RUNX1 fusion gene is the most frequent structural cytogenetic abnormality among patients with childhood acute lymphoblastic leukaemia (ALL).     ///    We investigated 62 ETV6/RUNX1-positive childhood ALL patients by single nucleotide polymorphism array to explore acquired copy number alterations (CNAs) at diagnosis.     ///    \"The present study sheds further light on the genetic diversity of ETV6/RUNX1-positive childhood ALL, which may be important for understanding poor responses among this otherwise highly curable subset of ALL and lead to novel targeted treatment strategies.. \"    ///    Genome-wide analysis of cytogenetic aberrations in ETV6/RUNX1-positive childhood acute lymphoblastic leukaemia.. '), ('2097', 'ATIC_ALK', 't(2;5)(p23;q35) / t(1;2)(q25;p23) / t(2;3)(p23;q21) / t(2;17)(p23;q23) / inv(2)(p23q35) / ', 'ATIC', 'ALK', '15208656', '209', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Recent studies demonstrated that ALK may also be involved in variant translocations, namely, t(1;2)(q25;p23), t(2;3)(p23;q21), t(2;17)(p23;q23) and inv(2)(p23q35), which create the TPM3-ALK, TFG-ALK5, CLTC-ALK, and ATIC-ALK fusion genes, respectively.     ///    \"We stably transfected the cDNAs coding for NPM-ALK, TPM3-ALK, TFG-ALK, CLTC-ALK or ATIC-ALK into nonmalignant NIH3T3 cells. \"'), ('2098', 'MTG16_AML1', 't(16;21)(q24;q22) / ', 'MTG16', 'AML1', '11224496', '209', 'leukemia;breast cancer\r\r', '', '', '', '', '', '', '', '', 'AML1/MTG16 fusion gene from a t(16;21)(q24;q22) translocation in treatment-induced leukemia after breast cancer.. '), ('2099', 'TFG_ALK5', 't(2;5)(p23;q35) / t(1;2)(q25;p23) / t(2;3)(p23;q21) / t(2;17)(p23;q23) / inv(2)(p23q35) / ', 'TFG', 'ALK5', '15208656', '209', 'anaplastic large cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Recent studies demonstrated that ALK may also be involved in variant translocations, namely, t(1;2)(q25;p23), t(2;3)(p23;q21), t(2;17)(p23;q23) and inv(2)(p23q35), which create the TPM3-ALK, TFG-ALK5, CLTC-ALK, and ATIC-ALK fusion genes, respectively. '), ('2100', 'ETO_AML1', 't(8;21)  / t(8;21) / ', 'ETO', 'AML1', '19734423', '209', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' Translocation of chromosomes 8 and 21, t(8;21), resulting in the AML1-ETO fusion gene, is associated with acute myeloid leukemia. '), ('2101', 'SSX1_SS18', 'p11.2;q11.2 / ', 'SSX1', 'SS18', '22550415', '209', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', 'KB', '', 'Over 90% of SS cases are characterized by the t(X;18)(p11.2;q11.2) translocation, which results mainly in the formation of SS18-SSX1 or SS18-SSX2 fusion genes.     ///    \"In recent years, several reports describing direct and indirect interactions of SS18-SSX1/SSX2 oncoproteins have been published. \"'), ('2102', 'NUP98_HOXC11', 't(11;12)(p15;q13) / ', 'NUP98', 'HOXC11', '12183408', '208', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', 'KB', '', 'We identified a novel NUP98-HOXC11 fusion gene in a pediatric patient with de novo acute myeloid leukemia having t(11;12)(p15;q13).     ///    Novel NUP98-HOXC11 fusion gene resulted from a chromosomal break within exon 1 of HOXC11 in acute myeloid leukemia with t(11;12)(p15;q13)..     ///    \"The breakpoint of NUP98 was located within a LINE repetitive sequence (HAL1) in intron 12, and the breakpoint of HOXC11 was located within exon 1, resulting in a NUP98-HOXC11 in-frame fusion transcript containing exon 12 of NUP98 fused to a part of exon 1 of HOXC11 with an 8-bp insertion derived from the intron sequence just 5\' of the breakpoint of NUP98. \"    ///    These data suggest that the NUP98-HOXC11 fusion protein plays a role in the pathogenesis of myeloid malignancies..     ///    The NUP98-HOXC11 fusion protein consists of the NH2-terminal phenylalanine-glycine repeat motif of NUP98 and the COOH-terminal homeodomain of HOXC11. '), ('2103', 'PHF1_EP400', 't(6;12) / p21;q24.3 / ', 'PHF1', 'EP400', '23806526', '208', '', '', '', '', '', '', '', '', '', 'We present an ossifying fibromyxoid tumor case with the EP400-PHF1 fusion gene detected by reverse transcriptase polymerase chain reaction, along with compatible cytogenetic data showing a t(6;12)(p21;q24.3) translocation.     ///    Ossifying fibromyxoid tumor presenting EP400-PHF1 fusion gene..     ///    Our results suggest that the EP400-PHF1 fusion gene is a reproducible finding in ossifying fibromyxoid tumor.     ///    \"Recently, a novel fusion gene, EP400-PHF1, was discovered in ossifying fibromyxoid tumor. \"    ///    \"however, its relation to this type of tumor has been uncertain because the EP400-PHF1 fusion gene has been successfully detected in only 1 case. \"'), ('2104', 'TFG_TEC', 't(3;9)  / t(3;9)(q11-q12;q22) / ', 'TFG', 'TEC', '22581839', '208', 'chondrosarcoma;sarcoma\r\r', '', 'Kinase', '', '', '', '', '', '', 'The TFG-TEC fusion gene created by the t(3;9) translocation in human extraskeletal myxoid chondrosarcomas encodes a more potent transcriptional activator than TEC..     ///    These results suggest that the oncogenic effect of the t(3;9) translocation may be due to the TFG-TEC chimeric protein and that fusion of the TFG (NTD) to the TEC protein produces a gain-of-function chimeric product..     ///    \"Additional reporter assays for TFG (NTD) showed that the TGF (NTD) of TFG-TEC induced a 12-fold increase in the activation of luciferase from a reporter plasmid containing GAL4 binding sites when fused to the DNA-binding domain of GAL4, indicating that the TFG (NTD) of the TFG-TEC protein has intrinsic transcriptional activation properties. \"    ///    \"Because the NTDs of TFG-TEC and TEC are structurally different, and the TFG itself is a cytoplasmic protein, the functional consequences of this fusion in extraskeletal myxoid chondrosarcomas were examined. \"    ///    Little is known about the biological function of TFG-TEC.     ///    Comparison of the transactivation properties of TFG-TEC and TEC indicated that the former has higher transactivation activity for a known target reporter containing TEC-binding sites. '), ('2105', 'HLF_E2A', 't(17;19)(q22;p13) / ', 'HLF', 'E2A', '9032268', '208', '', '', '', 'Oncogene', '', '', '', '', '', ' The E2A-HLF fusion gene, created by the t(17;19)(q22;p13) chromosomal translocation in pro-B lymphocytes, encodes an oncogenic protein in which the E2A trans-activation domain is linked to the DNA-binding and protein dimerization domain of hepatic leukemia factor (HLF), a member of the proline- and acidic amino acid-rich (PAR) subfamily of bZIP transcription factors.     ///    Cell transformation mediated by homodimeric E2A-HLF transcription factors..     ///    \"Thus, E2A-HLF could transform cells by direct regulation of downstream target genes, acting through homodimeric or heterodimeric complexes, or by sequestering normal PAR proteins into nonfunctional heterocomplexes (dominant-negative interference). \"    ///    \"Thus, the tumorigenic effects of E2A-HLF and its mutant forms in NIH 3T3 cells favor a straightforward model in which E2A-HLF homodimers bind directly to promoter/enhancer elements of downstream target genes and alter their patterns of expression in early B-cell progenitors.. \"    ///    \"To distinguish among these models, we constructed mutant E2A-HLF proteins in which the leucine zipper domain of HLF was extended by one helical turn or altered in critical charged amino acids, enabling the chimera to bind to DNA as a homodimer but not as a heterodimer with HLF or other PAR proteins. \"    ///    \"When introduced into NIH 3T3 cells in a zinc-inducible vector, each of these mutants induced anchorage-independent growth as efficiently as unaltered E2A-HLF, indicating that the chimeric oncoprotein can transform cells in its homodimeric form. \"'), ('2106', 'SYT_SSX', 'p11;q11 / ', 'SYT', 'SSX', '25948355', '208', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'A biopsy of the pleural lesions showed uniform short spindle cell proliferation, while the SYT-SSX fusion gene, which is preceded by chromosomal translocation t(X;18)(p11;q11), was detected using reverse transcription-polymerase chain reaction. '), ('2107', 'WWTR1_CAMTA1', '1p36.3 / ', 'WWTR1', 'CAMTA1', '26414223', '208', 'sarcoma;epithelioid hemangioendothelioma;epithelioid hemangioendothelioma\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', ' Epithelioid hemangioendothelioma (EHE) is a malignant endothelial neoplasm characterized by recurrent translocations involving chromosomal regions 1p36.3 and 3q25, resulting in the formation of a WWTR1-CAMTA1 fusion gene in approximately 90% of cases.     ///    The WWTR1-CAMTA1 fusion gene leads to overexpression of both genes.     ///    \"In conclusion, in keeping with the reported frequency of WWTR1-CAMTA1 in EHE, nuclear CAMTA1 expression is identified in the majority of EHE cases, whereas other epithelioid mesenchymal neoplasms are negative for CAMTA1. \"'), ('2108', 'TLS_CHOP', 't(12;6) / t(12;16)(q13;p11) / ', 'TLS', 'CHOP', '11126370', '207', 'liposarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' Myxoid and round-cell liposarcomas share the translocation t(12;16)(q13;p11) creating the TLS-CHOP fusion gene as a common genetic alteration.     ///    Computer-assisted search found sequences highly homologous (>70%) with Translin binding motifs adjacent to the breakpoints in 10 out of 11 liposarcomas with the TLS-CHOP fusion genes. '), ('2109', 'TEL_AML1', 't(12;21)  / t(12;21) (p13;q22) / t(12;21) / ', 'TEL', 'AML1', '9498702', '207', 'acute lymphoblastic leukemia;myeloid leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Detection of the Der (21)t(12;21) chromosome forming the TEL-AML1 fusion gene in childhood acute lymphoblastic leukemia..     ///    \"TEL-AML1 hybrid protein thought to be critical in leukemogenesis possesses the HLH domain of TEL fused to almost the entire AML1 protein, although the detailed mechanisms of leukemogenesis remain obscure. \"'), ('2110', 'MLL4_GPS2', 't(17;19)(p13;q13) / ', 'MLL4', 'GPS2', '25139254', '207', 'hepatitis', '', '', '', '', '', '', '', '', 'We identified a novel chromosomal translocation t(17;19)(p13;q13) in a pediatric UDS and have characterized this alteration to show rearrangement of the MLL4 and GPS2 genes, resulting in an in-frame fusion gene MLL4-GPS2, the expression of which promotes anchorage-independent growth.     ///    Identification of an MLL4-GPS2 fusion as an oncogenic driver of undifferentiated spindle cell sarcoma in a child.. '), ('2111', 'ETO_AML1', 't(8;21)(q22;q22) / inv(16)(p13q22) / t(16;16)(p13;q22) / t(8;21)  / inv(16) / t(16;16)  / ', 'ETO', 'AML1', '12930314', '206', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'At the molecular level, t(8;21) and inv(16)/t(16;16) result in the creation of novel fusion genes, AML1/ETO and CBFbeta/MYH11, respectively, which encode fusion transcripts readily detectable by the reverse transcription-polymerase chain reaction (RT-PCR).     ///    \"As relapse is likely to occur as the result of failure of treatment to completely eradicate leukemic blasts, the detection of the AML1/ETO and CBFbeta/MYH11 fusion transcripts using sensitive RT-PCR assays has been utilized as a surrogate marker for resistant disease and, in turn, to predict disease recurrence during remission. \"'), ('2112', 'TIF2_MOZ', 'inv(8)(p11q13) / t(8;16)(p11;p13) / t(8;16) / inv(8)  / inv(8) / ', 'TIF2', 'MOZ', '11342350', '205', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'in t(8;16)-positive leukemia, a MOZ-CBP chimeric gene is generated, whereas inv(8) has been shown to generate a MOZ-TIF2 fusion gene. '), ('2113', 'DEK_CAN', 't(6;9)  / ', 'DEK', 'CAN', '1384675', '205', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Characterization of the translocation breakpoint sequences of two DEK-CAN fusion genes present in t(6;9) acute myeloid leukemia and a SET-CAN fusion gene found in a case of acute undifferentiated leukemia.. '), ('2114', 'FUS_CHOP', 't(16;21)(p11;q22) / t(12;16) (q13;p11) / t(12;22;20)(q13;q12;q11) / t(12;16)  / ', 'FUS', 'CHOP', '9315104', '205', 'acute myeloid leukemia;liposarcoma;myeloid leukemia;leukemia;sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' We have sequenced the breakpoint regions in one acute myeloid leukemia (AML) with t(16;21)(p11;q22) resulting in the formation of a FUS/ERG hybrid gene and in four myxoid liposarcomas (MLS), three of which had the translocation t(12;16) (q13;p11) and a FUS/CHOP fusion gene and one with t(12;22;20)(q13;q12;q11) and an EWS/CHOP hybrid gene.     ///    \"In the AML, the MLS with ESW/CHOP and in one MLS with FUS/CHOP there were one, two and six, respectively, nucleotide identity between the contributing germline sequences in the breakpoint. \"    ///    \"Characteristic sequence motifs at the breakpoints of the hybrid genes FUS/CHOP, EWS/CHOP and FUS/ERG in myxoid liposarcoma and acute myeloid leukemia.. \"'), ('2115', 'SET_CAN', 't(6;9)  / ', 'SET', 'CAN', '1384675', '205', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Characterization of the translocation breakpoint sequences of two DEK-CAN fusion genes present in t(6;9) acute myeloid leukemia and a SET-CAN fusion gene found in a case of acute undifferentiated leukemia..     ///    Genomic sequences around the translocation breakpoint were determined in two t(6;9) samples and in the case of the SET-CAN fusion. '), ('2116', 'NPM_ALK', 't(2;5)(p23;q35) / t(2;5)  / ', 'NPM', 'ALK', '25961700', '205', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In 1994, the t(2;5) was cloned and the NPM-ALK fusion gene generated by this rearrangement was identified. '), ('2117', 'ETO_AML1', 't(15;17)  / t(8;21)  / inv(16) / t(16;16)  / ', 'ETO', 'AML1', '17688368', '204', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The analyzed group was stratified according to presence or absence of prognostically favorable aberrations (PFAs), such as t(15;17) with PML/RARalpha fusion gene, t(8;21) with AML1/ETO fusion gene or inv(16)/ t(16;16) with CBFbeta/MYH11 fusion gene. '), ('2118', 'ETO_AML1', 't(8;21)  / t(8;21) / ', 'ETO', 'AML1', '15650049', '204', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', ' To explore the genetic abnormalities that cooperate with AML1-ETO (AE) fusion gene to cause acute myeloid leukemia (AML) with t(8;21), we screened a number of candidate genes and identified 11 types of mutations in C-KIT gene (mC-KIT), including 6 previously undescribed ones among 26 of 54 (48.1%) cases with t(8;21).     ///    AML1-ETO and C-KIT mutation/overexpression in t(8;21) leukemia: implication in stepwise leukemogenesis and response to Gleevec.. '), ('2119', 'TEL_PAX5', 't(9;12)  / ', 'TEL', 'PAX5', '18172310', '204', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'We previously cloned the PAX5/TEL fusion gene in a patient affected by B-cell precursor ALL with a t(9;12) translocation.     ///    \"We showed that PAX5/TEL protein acts as an aberrant transcription factor with repressor function, recruiting mSin3A, down-regulating B220, CD19, BLNK, MB-1, FLT3, and mu heavy chain expression, thus suggesting a block on B-cell differentiation. \"    ///    \"PAX5/TEL acts as a transcriptional repressor causing down-modulation of CD19, enhances migration to CXCL12, and confers survival advantage in pre-BI cells.. \"    ///    \"In a PAX5-deficient context, the presence of PAX5/TEL did not replace PAX5 functions. \"    ///    \"PAX5/TEL protein enhances cell migration towards CXCL12, with the overexpression of CXCR4. \"    ///    \"Thus, in vitro, the PAX5/TEL protein has a dominant effect on wild-type PAX5, interferes with the process of B-cell differentiation and migration, and induces resistance to apoptosis. \"    ///    This is the first report investigating the molecular and functional roles of PAX5/TEL protein in vitro from murine wild-type pre-BI cells. '), ('2120', 'HLF_E2A', 't(17;19) / ', 'HLF', 'E2A', '19065654', '204', 'leukemia;gastric cancer\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', '', '', '', ' SRPX2 (Sushi repeat containing protein, X-linked 2) was first identified as a downstream molecule of the E2A-HLF fusion gene in t(17;19)-positive leukemia cells and the biological function of this gene remains unknown. '), ('2121', 'RARA_PLZF', 't(11;17)(q23;q21) / t(15;17) / t(11;17)  / t(5;17)  / ', 'RARA', 'PLZF', '15748426', '204', 'acute myeloid leukemia;chronic myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leuke\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'Our group first discovered in the world the variant chromosome translocation t(11;17)(q23;q21) of APL, and cloned the PML-RAR alpha, PLZF-RAR alpha and NPM-RAR alpha fusion genes corresponding to the characterized chromosome translocations t(15;17).     ///    The ability of ATRA to modify the recruitment of nuclear receptor co-repressor with PML-RAR alpha but not PLZF-RAR alpha caused by the variant chromosome translocation elucidated the therapeutic mechanism of ATRA from the molecular level and provides new insight into transcription-modulating therapy. '), ('2122', 'FUS_DDIT3', 't(12;16)  / ', 'FUS', 'DDIT3', '16651630', '204', 'liposarcoma;sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Most MLS/RCLS carry a t(12;16) translocation, resulting in a FUS-DDIT3 fusion gene.     ///    Cells expressing FUS-DDIT3 and DDIT3 grew as liposarcomas in severe combined immunodeficient mice and exhibited a capillary network morphology that was similar to networks of MLS/RCLS.     ///    \"In conclusion, because the fusion oncogene FUS-DDIT3 and the normal DDIT3 induce a liposarcoma phenotype when expressed in a primitive sarcoma cell line, MLS/RCLS may develop from cell types other than preadipocytes. \"    ///    The myxoid/round cell liposarcoma fusion oncogene FUS-DDIT3 and the normal DDIT3 induce a liposarcoma phenotype in transfected human fibrosarcoma cells.. '), ('2123', 'TEL_MN1', 't(12;22)(p13;q11) / t(12;22)  / ', 'TEL', 'MN1', '17369854', '204', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The translocation t(12;22)(p13;q11) creates an MN1-TEL fusion gene leading to acute myeloid leukemia.     ///    \"Compared to MN1, the same transactivation domains in MN1-TEL are poorly stimulated by p160, p300 or histone deacetylase inhibitors, indicating that the block of RAR-mediated transcription by MN1-TEL is caused by dysfunctional transactivation domains rather than by recruitment of corepressors. \"    ///    \"We show that MN1-TEL inhibits retinoic acid receptor (RAR)-mediated transcription, counteracts coactivators such as p160 and p300, and acts as a dominant-negative mutant of MN1. \"    ///    \"In MN1-TEL, the transactivating domains of MN1 are combined with the DNA-binding domain of TEL. \"    ///    The MN1-TEL myeloid leukemia-associated fusion protein has a dominant-negative effect on RAR-RXR-mediated transcription.. '), ('2124', 'SYT_SSX4', 'p11.2;q11.2 / ', 'SYT', 'SSX4', '15350633', '204', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' Synovial sarcoma (SS) is characterized by the t(X;18)(p11.2;q11.2) chromosomal translocation, which results in generating either SYT-SSX1, SYT-SSX2 or, infrequently, SYT-SSX4 fusion gene. '), ('2125', 'TEL_AML1', 't(12;21)(p13;q22) / ', 'TEL', 'AML1', '11347199', '204', 'hematologic malignancy;hematologic malignancy\r\r', '', '', '', '', '', '', '', '', 'TEL/AML1 fusion gene (derived from t(12;21)(p13;q22) translocation) became recently one of the most important genetic aberrations in children with ALL.     ///    TEL/AML1 act presumably as dominant inhibitors of the second AML1 allele and thus they block transcription of genes dependent on CBF factor.     ///    Childhood ALL with TEL/AML1 hybrid gene is very frequent (approximately 22% of overall childhood ALL in the Czech Republic) and patients with this fusion form relatively homogenous group. '), ('2126', 'P300_MLL', 't(1;22;11)(q44;q13;q23) / ', 'P300', 'MLL', '18778367', '204', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'A complex t(1;22;11)(q44;q13;q23) translocation causing MLL-p300 fusion gene in therapy-related acute myeloid leukemia..     ///    \"This is only the second reported case of leukemia with an MLL-p300 fusion gene, and the other case with MLL-p300 was also a therapy-related leukemia. \"    ///    \"The authors, herein, report a therapy-related acute myeloid leukemia with MLL-p300 fusion gene. \"    ///    \"Considering that the MLL-CBP fusion gene is also found almost exclusively in therapy-related leukemia, the association of MLL-p300 and MLL-CBP with therapy-related leukemia rather than de novo leukemia is thereby suggested.. \"'), ('2127', 'PAX3_FKHR', 't(2;13)(q35;q14) / t(1;13)(p36;q14) / 11p15.5 / ', 'PAX3', 'FKHR', '10534762', '204', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'These PAX genes are also involved through specific translocations, t(2;13)(q35;q14) and variant t(1;13)(p36;q14) in the alveolar subtype, which result in PAX3-FKHR and PAX7-FKHR fusion genes, respectively. '), ('2128', 'RARA_NPM', 't(11;17)(q23;q21) / t(15;17) / t(11;17)  / t(5;17)  / ', 'RARA', 'NPM', '15748426', '204', 'acute myeloid leukemia;chronic myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leuke\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'Our group first discovered in the world the variant chromosome translocation t(11;17)(q23;q21) of APL, and cloned the PML-RAR alpha, PLZF-RAR alpha and NPM-RAR alpha fusion genes corresponding to the characterized chromosome translocations t(15;17). '), ('2129', 'PAX7_FKHR', 't(2;13)(q35;q14) / t(1;13)(p36;q14) / 11p15.5 / ', 'PAX7', 'FKHR', '10534762', '204', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'These PAX genes are also involved through specific translocations, t(2;13)(q35;q14) and variant t(1;13)(p36;q14) in the alveolar subtype, which result in PAX3-FKHR and PAX7-FKHR fusion genes, respectively.     ///    \"Genomic amplification of such genes as MYCN, MDM2, CDK4, and PAX7-FKHR is a feature mainly of the alveolar subtype, while specific chromosomal gains, including chromosomes 2, 8, 12, and 13, are associated with the embryonal subtype. \"'), ('2130', 'PML_PAX5', 't(9;15)(p13;q24) / ', 'PML', 'PAX5', '21217775', '204', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', '', '', 'A fusion gene, PAX5-PML, was found in acute lymphoblastic leukemia (ALL) with chromosomal translocation t(9;15)(p13;q24), but no functional analysis has been reported.     ///    PAX5-PML dominant negatively inhibited PAX5 transcriptional activity in the luciferase reporter assay and suppressed the expression of the PAX5 transcriptional targets in B-lymphoid cell line.     ///    \"Additional experiments, including chromatin immunoprecipitation (ChIP) assay, suggested that PAX5-PML bound to the promoter through the association with PAX5 on the promoter. \"    ///    PAX5-PML acts as a dual dominant-negative form of both PAX5 and PML..     ///    \"On the other hand, coexpression of PAX5-PML inhibited PML sumoylation, disrupted PML nuclear bodies (NBs), and conferred apoptosis resistance on HeLa cells. \"    ///    \"Here, we demonstrate that PAX5-PML had a dominant-negative effect on both PAX5 and PML. \"    ///    \"Surprisingly, PAX5-PML hardly showed DNA-binding activity in vitro although it retained the DNA-binding domain of PAX5. \"    ///    \"Furthermore, treatment with arsenic trioxide (ATO) induced PML sumoylation and reconstitution of PML NBs, and overcame the anti-apoptotic effect of PAX5-PML in HeLa cells. \"    ///    These data suggest the possible involvement of this fusion protein in the leukemogenesis of B-ALL in a dual dominant-negative manner and the possibility that ALL with PAX5-PML can be treated with ATO.. '), ('2131', 'PDGFRB_KANK1', 't(5;9)  / ', 'PDGFRB', 'KANK1', '21685469', '204', 'blood platelet disorder', '', 'Kinase', '', '', 'Receptor', '', '', '', ' KANK1-PDGFRB is a fusion gene generated by the t(5;9) translocation between KANK1 and the platelet-derived growth factor receptor beta gene PDGFRB.     ///    KANK1-PDGFRB was transduced into Ba/F3 cells and CD34(+) human progenitor cells to gain insights into the mechanisms whereby this fusion gene transforms cells.     ///    KANK1-PDGFRB is a unique example of a thrombocythemia-associated oncogene that does not signal via JAK2. '), ('2132', 'S100A10_CSF1', 't(1;1)(q21;p11) / ', 'S100A10', 'CSF1', '24604026', '204', 'giant cell tumor\r\r', '', '', '', '', '', '', '', '', 'A novel CSF1-S100A10 fusion gene was found in a TSGCT that carried the translocation t(1;1)(q21;p11) as the sole karyotypic abnormality.     ///    \"Similar to the occurrence in the CSF1-S100A10 fusion gene, the novel CSF1 transcript 3\'-UTR is replaced by a new exon located ~48?kb downstream of CSF1 and 11?kb upstream of AHCYL1. \"    ///    \"Although only 3 TSGCT were available for study, the finding in all of them of a novel CSF1-S100A10 fusion gene or CSF1 transcript indicates the existence of a common pathogenetic theme in this tumor type: the replacement of the 3\'-UTR of CSF1 with other sequences. \"    ///    Novel CSF1-S100A10 fusion gene and CSF1 transcript identified by RNA sequencing in tenosynovial giant cell tumors..     ///    \"Since the stop codon TAG of CSF1 is present in it, the CSF1-S100A10 fusion gene\'s predominant consequence seems to be the replacement of the 3\'-untranslated region (UTR) of CSF1 (exon?9. \"'), ('2133', 'BCR_ABL1', 't(9;22)(q34;q11) / ', 'BCR', 'ABL1', '8204871', '204', 'acute lymphoid leukemia;chronic myeloid leukemia', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Chronic myeloid leukemias and 5% to 20% of acute lymphoid leukemias are characterized by the Philadelphia chromosome, a reciprocal chromosomal translocation, t(9;22)(q34;q11), generating BCR-ABL and ABL-BCR fusion genes. '), ('2134', 'ETO_AML1', 't(8;21)  / t(8;21) / ', 'ETO', 'AML1', '12393465', '204', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Heterozygous PU.1 mutations were reported in some patients with acute myeloid leukemia (AML), but not in AML with translocation t(8;21), which gives rise to the fusion gene AML1-ETO.     ///    The myeloid master regulator transcription factor PU.1 is inactivated by AML1-ETO in t(8;21) myeloid leukemia..     ///    \"Thus, the function of PU.1 is down-regulated by AML1-ETO in t(8;21) myeloid leukemia, whereas overexpression of PU.1 restores normal differentiation.. \"    ///    \"AML1-ETO down-regulates the transactivation capacity of PU.1 in myeloid U937 cells, and the expression levels of PU.1 target genes in AML French-American-British (FAB) subtype M2 patients with t(8;21) were lower than in patients without t(8;21). \"    ///    AML1-ETO physically binds to PU.1 in t(8;21)(+) Kasumi-1 cells.     ///    \"AML1-ETO binds to the beta(3)beta(4) region in the DNA-binding domain of PU.1 and displaces the coactivator c-Jun from PU.1, thus down-regulating the transcriptional activity of PU.1. \"    ///    Here we report a negative functional impact of AML1-ETO on the transcriptional activity of PU.1.     ///    Conditional expression of AML1-ETO causes proliferation in mouse bone marrow cells and inhibits antiproliferative function of PU.1.     ///    This physical interaction of AML1-ETO and PU.1 did not abolish the DNA-binding capacity of PU.1. ');
