INSERT INTO `ChimerPub_dump` VALUES ('2135', 'SSX_SS18', 'p11;q11 / ', 'SSX', 'SS18', '20518020', '204', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' Synovial sarcoma (SS) is a malignant soft tissue tumor characterized by its unique t(X;18)(p11;q11) chromosomal translocation leading to the formation of the SS18-SSX fusion gene.     ///    \"Upon SS18-SSX silencing with sequence-specific siRNAs, these SS cells exhibited morphological transition from spherical growth in suspension to adherent growth in monolayer, additional expression of later mesenchymal and hematopoietic lineage genes, and broader differentiation potentials into osteocytes, chondrocytes, adipocytes, and macrophages in appropriate differentiation cocktails. \"    ///    \"Collectively, these data suggest that a human multipotent mesenchymal stem cell can serve as a cell of origin for SS and SS is a stem cell malignancy resulting from dysregulation of self-renewal and differentiation capacities driven by SS18-SSX fusion protein.. \"'), ('2136', 'SYT_SSX', 'p11;q11 / ', 'SYT', 'SSX', '19936258', '204', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' A characteristic SYT-SSX fusion gene resulting from the chromosomal translocation t(X;18)(p11;q11) is detectable in almost all synovial sarcomas, a malignant soft tissue tumor widely believed to originate from as yet unidentified pluripotent stem cells.     ///    Methylation status analysis of sequences at the H19/IGF2 imprinted locus indicated that distinct epigenetic features characterize hMSC populations and condition the transcriptional effects of SYT-SSX expression.     ///    We addressed the effect of SYT/SSX expression on the transcriptome of four independent isolates of primary human bone marrow mesenchymal stem cells (hMSC).     ///    \"Despite recent advances in the identification of molecules that interact with SYT-SSX and with the corresponding wild type SYT and SSX proteins, the mechanisms whereby the SYT-SSX might contribute to neoplastic transformation remain unclear. \"    ///    Our observations suggest that epigenetic features may define the cellular microenvironment in which SYT-SSX displays its functional effects.. '), ('2137', 'ETO_AML1', 't(8;21)  / t(8;21) / ', 'ETO', 'AML1', '8639850', '203', 'leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' The leukemia-specific AML1/ETO fusion gene has been shown to be detected by reverse transcriptase polymerase chain reaction (RT-PCR) analysis in patients with t(8;21) acute myelogenous leukemia (AML) in long-term remission.     ///    Persistence of multipotent progenitors expressing AML1/ETO transcripts in long-term remission patients with t(8;21) acute myelogenous leukemia..     ///    \"Accordingly, these committed progenitor cells that express AML1/ETO mRNA during remission likely have arisen from common t(8;21)+ pluripotent progenitor cells with at least trilineage differentiation potential. \"    ///    \"In the present study, the AML1/ETO mRNA could be detected by RT-PCR in bone marrow (BM) and/or peripheral blood (PB) samples from all 18 patients who had been maintaining complete remission for 12 to 150 months (median, 45 months) following chemotherapy or PB stem cell transplantation (PBSCT), whereas it could not be detected in four patients who had been maintaining remission for more than 30 months following allogeneic BM transplantation (BMT). \"    ///    We surveyed the expression of AML1/ETO mRNA in clonogenic progenitors from BM in these cases.     ///    The AML1/ETO mRNA+ progenitors showed the PGK allele identical to that detected in the leukemic blasts from the time of initial diagnosis.     ///    \"Notably, 51 of 2,469 colonies from clonogenic progenitors (2.1%) expressed the AML1/ETO mRNA in 18 cases who were RT-PCR+ in BM and/or PB samples. \"'), ('2138', 'ETO_AML1', 't(8;21)(q22;q22) / inv(16)(p13q22) / t(16;16)(p13;q22) / ', 'ETO', 'AML1', '18297529', '203', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', ' Core binding factor acute myeloid leukemia (CBF AML), with t(8;21)(q22;q22), inv(16)(p13q22) or t(16;16)(p13;q22) and the associated fusion gene transcripts AML1/ETO or CBFbeta/MYH11, has a favourable clinical prognosis although significant numbers of patients still suffer relapse. '), ('2139', 'RUNX1_CBFA2T1', 't(2;21;8)(p12;q22;q22) / t(8;21)  / ', 'RUNX1', 'CBFA2T1', '19100512', '202', 'acute myeloid leukemia', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'We report a case of a 31-year-old female with a positive RUNX1/CBFA2T1 (alias AML1/ETO) fusion gene and a karyotype with a t(2;21;8)(p12;q22;q22). '), ('2140', 'NUP98_HOXA9', 't(7;11)(p15;p15) / ', 'NUP98', 'HOXA9', '12112533', '202', 'acute myeloid leukemia;myeloid leukemia;leukemia;hematologic malignancy\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'The NUP98-HOXA9 fusion gene has been identified in acute myeloid leukemia (AML) and chronic myelogenous leukemia with t(7;11)(p15;p15).     ///    \"The protein encoded by the NUP98-HOXA13 fusion gene is similar to that encoded by NUP98-HOXA9, and the expression pattern of the HOXA13 gene in leukemic cell lines is similar to that of the HOXA9 gene, suggesting that the NUP98-HOXA13 fusion protein may play a role in leukemogenesis through a mechanism similar to that of the NUP98-HOXA9 fusion protein.. \"    ///    \"The NUP98-HOXA13 fusion protein consists of the N-terminal phenylalanine-glycine repeat motif of NUP98 and the C-terminal homeodomain of HOXA13, similar to the NUP98-HOXA9 fusion protein. \"'), ('2141', 'ETO_AML1', 't(15;17)  / t(8;21)  / t(8;21) / ', 'ETO', 'AML1', '11120332', '202', 'acute promyelocytic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'A reexamination of the leukemic cells at diagnosis revealed that an AML1-ETO fusion gene was also present at that time without cytogenetic evidence of t(8;21).     ///    Simultaneous PML/RARalpha and AML1/ETO expression with t(15;17) at onset and relapse with only t(8;21) in an acute promyelocytic leukemia patient.. '), ('2142', 'ETO_AML1', 't(8;21) / t(8;21)  / ', 'ETO', 'AML1', '11110985', '202', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' To construct and evaluate the competitive quantitative RT-PCR method for detecting the fusion gene of AML1-ETO in the patients of t(8;21)AML(acute myeloid leukemia).     ///    \"the sensitive competitive RT-PCR method is developed, which allows the quantitation of the number of AML1-ETO transcriptions in t(8;21)AML patients at different phases. \"    ///    t(8;21) AML patients in different survival conditions express AML1-ETO gene quite differently..     ///    \"The authors used the method of splicing by overlapping extension (SOE) to obtain the competitive DNA fragment, with which they set up the competitive quantitative RT-PCR assay to detect AML1-ETO chimeric genes in the patients of t(8;21) AML. \"'), ('2143', 'TLS_CHOP', 't(12;16)  / t(12;22)  / ', 'TLS', 'CHOP', '12907366', '202', 'liposarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' A specific TLS-CHOP fusion gene derived from the t(12;16) is present in at least 95% of myxoid/round cell liposarcomas (MLS).     ///    \"The heterogeneity of TLS-CHOP fusion transcript showed no apparent impact on adipogenesis, since both TLS-CHOP type I and II cases could randomly display various levels of lipoblastic differentiation. \"    ///    \"By RT-PCR assay there were 13 cases with TLS-CHOP fusion transcripts: 7 cases of type 5-2 (known as type II), 4 cases of type 7-2 (known as type I),1 case of type 8-2 (known as type III), and 1 unique case of type 6-2. \"    ///    \"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. \"    ///    \"Furthermore, the 4 cases without definite lipoblasts showed no preference for any specific fusion variants and consisted of one each of TLS-CHOP subtypes. \"    ///    Molecular variability of TLS-CHOP structure shows no significant impact on the level of adipogenesis: a comparative ultrastructural and RT-PCR analysis of 14 cases of myxoid/round cell liposarcomas.. '), ('2144', 'NPM_ALK', 't(2;5)(p23;q35) / ', 'NPM', 'ALK', '17116485', '202', 'acute lymphoblastic leukemia;anaplastic large cell lymphoma;lymphoblastic leukemia;non Hodgkin lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Chromosomal abnormalities, including t(2;5)(p23;q35), the ALK/NPM fusion gene, and complex karyotypes with multiple additional abnormalities, were identified in all three patients.     ///    Pediatric ALCL cases frequently have complex karyotypes and usually involve ALK/NPM translocations in this limited study. '), ('2145', 'TEL_AML1', 't(12;21) / ', 'TEL', 'AML1', '10049061', '202', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia;hematopoietic malignancy\r\r', '', '', '', '', '', '', '', '', 'The TEL-AML1 fusion gene, created by the t(12;21), is the most common genetic alteration in childhood acute lymphoblastic leukemia and is associated with a favorable outcome.     ///    \"This review summarizes the roles of the TEL and AML1 proteins in hematopoiesis, the potential transforming mechanisms of TEL fusion proteins, and the clinical significance of the TEL-AML1 fusion.. \"'), ('2146', 'MALT1_API2', 't(11;18)(q21;q21) / t(1;14)(p22;q32) / ', 'MALT1', 'API2', '11707622', '202', 'MALT Lymphoma', '', '', '', '', '', '', '', '', 'The t(11;18)(q21;q21), which is far more common, disrupts the api2 gene on chromosome 11q21 and the malt1 (mlt) gene on chromosome 18q21, resulting in the synthesis of a novel fusion gene and protein, API2-MALT1.     ///    Recent work suggests that API2-MALT1 and BCL-10-MALT1 may activate NF-kB and a common downstream signaling pathway.. '), ('2147', 'ETO_AML1', 't(9;22)(q34;q11) / t(15;17)(q22;q21) / t(11;17)(q23;q21) / t(5;17)(q32;q21) / t(11;17)(q13;q21) / t(8,21)(q22;q22) / inv(16)(p13;q22) /  / ', 'ETO', 'AML1', '17251199', '202', 'leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'We studied the: t(9;22)(q34;q11), t(15;17)(q22;q21), t(11;17)(q23;q21), t(5;17)(q32;q21), t(11;17)(q13;q21), t(8,21)(q22;q22) and inv(16)(p13;q22) that generate the BCR-ABL, PML-RARa, PLZF-RARa, NPM-RARa, NuMA-RARa, AML1-ETO and CBFbeta-MYH11 fusion genes, respectively. '), ('2148', 'ZEB2_BCL11B', 't(2;14)(q22;q32) / del(6)(q13q21) / t(2;14)  / ', 'ZEB2', 'BCL11B', '26186352', '202', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Novel ZEB2-BCL11B Fusion Gene Identified by RNA-Sequencing in Acute Myeloid Leukemia with t(2;14)(q22;q32)..     ///    \" RNA-sequencing of a case of acute myeloid leukemia with the bone marrow karyotype 46,XY,t(2;14)(q22;q32)[5]/47,XY,idem,+?4,del(6)(q13q21)[cp6]/46,XY[4] showed that the t(2;14) generated a ZEB2-BCL11B chimera in which exon 2 of ZEB2 (nucleotide 595 in the sequence with accession number NM_014795.3) was fused to exon 2 of BCL11B (nucleotide 554 in the sequence with accession number NM_022898.2). \"'), ('2149', 'NUP98_HOXA9', 't(7;11)(p15;p15) / ', 'NUP98', 'HOXA9', '19338047', '202', 'myeloid leukemia', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'The NUP98-HOXA9 fusion gene with t(7;11)(p15;p15) was identified and revealed to be essential for leukemogenesis and myeloproliferative disease. '), ('2150', 'MLL_CBP', 't(11;16)(q23;p13) / ', 'MLL', 'CBP', '11313967', '202', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'We have established a myeloid cell line (SN-1) with the MLL-CBP fusion gene from an acute leukemia patient with t(11;16)(q23;p13).     ///    Downregulation of MLL-CBP fusion gene expression is associated with differentiation of SN-1 cells with t(11;16)(q23;p13)..     ///    Downregulation of the expression of the MLL-CBP fusion gene occurred during the differentiation of SN-1 cells.     ///    These findings suggest that RXR agonists or a clinically applicable combination of ATRA and butyrate derivatives might be useful for differentiation therapy in leukemia patients with the MLL-CBP fusion gene..     ///    \"When SN-1 cells were treated with MLL-CBP antisense oligonucleotide, the cells were induced to differentiate by ATRA or VD3, suggesting that the MLL-CBP fusion gene dominant-negatively suppresses ATRA- or VD3-induced differentiation. \"    ///    The downregulation of the expression of MLL-CBP mRNA was accompanied by the induction of differentiation. '), ('2151', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '20224268', '202', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Isochromosome der(17)(q10)t(15;17) in acute promyelocytic leukemia resulting in an additional copy of the RARA-PML fusion gene: report of 4 cases and review of the literature..     ///    \"The data presented in this study demonstrated that ider(17q), which resulted in an extra RARA-PML fusion gene, was more frequent in males than females (male/female ratio of 2.12/1), was associated with a rather low initial white blood cell count and did not confer an adverse prognosis in APL patients treated with all-trans-retinoic acid and chemotherapy. \"    ///    Cases of overrepresentation of the RARA-PML fusion gene and ider(17q) cases may help in elucidating the role of RARA-PML in leukemogenesis.. '), ('2152', 'TNS3_MAP3K3', 't(7;17)(p12;q23) / t(8;11)(q23;p13) / t(7;17)(p13;q23) / ', 'TNS3', 'MAP3K3', '25484136', '202', 'mesothelioma\r\r', 'PCR;RT-PCR', 'Kinase', '', '', '', '', '', '', 'Novel TNS3-MAP3K3 and ZFPM2-ELF5 fusion genes identified by RNA sequencing in multicystic mesothelioma with t(7;17)(p12;q23) and t(8;11)(q23;p13)..     ///    \"RNA-sequencing showed that the t(7;17)(p13;q23) generated a chimeric TNS3-MAP3K3 gene, which codes for a chimeric protein kinase, as well as the reciprocal MAP3K3-TNS3 in which the region of TNS3 coding for the SH2_Tensin_like region and the tensin phosphotyrosine-binding domain is under the control of the MAP3K3 promoter. \"    ///    The finding of acquired clonal chromosome abnormalities in cells cultured from the lesion and the presence of the TNS3-MAP3K3 chimeric protein kinase and the ZFPM2-ELF5 chimeric transcription factor confirm the neoplastic nature of multicystic mesothelioma. '), ('2153', 'SYT_SSX', 'p11.2;q11.2 / ', 'SYT', 'SSX', '24014971', '202', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', '18)(p11.2;q11.2) or the resultant fusion gene (SYT-SSX) is the gold standard for diagnosis, this test is not always accessible. '), ('2154', 'ETO_AML1', 't(8;21)(q22;q22) / t(8;21)  / ', 'ETO', 'AML1', '18288568', '202', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'q22) might be a new subgroup of BAL, and it was suggested that the leukemia clone with t(8;21)(q22;q22) might have originated from an early phase of hematopoiesis, and AML1/ETO fusion gene might be related to differentiation of B lymphocyte.. '), ('2155', 'ZFPM2_ELF5', 't(7;17)(p12;q23) / t(8;11)(q23;p13) / t(7;17)(p13;q23) / ', 'ZFPM2', 'ELF5', '25484136', '202', 'mesothelioma\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', 'Novel TNS3-MAP3K3 and ZFPM2-ELF5 fusion genes identified by RNA sequencing in multicystic mesothelioma with t(7;17)(p12;q23) and t(8;11)(q23;p13)..     ///    \"The other translocation, t(8;11)(q23;p13), generated a chimeric ZFPM2-ELF5 gene which codes for a chimeric transcription factor in which the first 40 amino acids of ELF5 are replaced by the first 100 amino acids of ZFPM2. \"    ///    The finding of acquired clonal chromosome abnormalities in cells cultured from the lesion and the presence of the TNS3-MAP3K3 chimeric protein kinase and the ZFPM2-ELF5 chimeric transcription factor confirm the neoplastic nature of multicystic mesothelioma. '), ('2156', 'KAT6B_KANSL1', 't(10;17)(q22;q21) / ', 'KAT6B', 'KANSL1', '25621995', '202', 'smooth muscle tumor\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', 'Novel KAT6B-KANSL1 fusion gene identified by RNA sequencing in retroperitoneal leiomyoma with t(10;17)(q22;q21)..     ///    \"The KAT6B-KANSL1 fusion transcript consists of exons 1 to 3 of KAT6B and exons 11 to 15 of KANSL1, is 3667 bp long, has a 1398 bp long open reading frame, and codes for a 466 amino acid residue protein. \"    ///    RT-PCR together with direct (Sanger) sequencing verified the presence of a KAT6B-KANSL1 fusion transcript.     ///    No reciprocal KANSL1-KAT6B transcript was amplified suggesting that it was either absent or unexpressed.     ///    \"The corresponding KAT6B-KANSL1 protein contains the NEMM domain (including the linker histone H1/H5, domain H15) of KAT6B and the PEHE domain of KANSL1. \"'), ('2157', 'PAX3_FKHR', 't(2;13)(q35;q14) / ', 'PAX3', 'FKHR', '7630639', '201', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The PAX3/FKHR fusion gene, formed by a t(2;13)(q35;q14) in alveolar rhabdomyosarcoma, encodes a hybrid protein that contains both PAX3 DNA binding domains, the paired box and homeodomain, linked to the bisected DNA binding domain of FKHR, a member of the forkhead family of transcription factors.     ///    We show that the native PAX3/FKHR protein present in tumor cells with this translocation has transcriptional characteristics similar to the in vitro expressed protein.     ///    \"The ability of the PAX3/FKHR hybrid protein to bind DNA in a sequence specific manner and to transactivate the expression of artificial reporter genes suggests that its aberrant expression could subvert the transcriptional programs that normally control the growth, differentiation, and survival of primitive myogenic precursors in vivo.. \"    ///    \"Here we report that PAX3 and PAX3/FKHR display similar, but not identical transactivation activities when tested with model Pax recognition sequences. \"    ///    The alveolar rhabdomyosarcoma PAX3/FKHR fusion protein is a transcriptional activator.. '), ('2158', 'TEL_AML1', 't(12;21)(p12;q22) / ', 'TEL', 'AML1', '14630078', '200', '', '', '', '', '', '', '', '', '', 'Aspects such as: the mechanism of translocation t(12;21)(p12;q22), function of TEL/AML1 fusion gene and chimeric protein, clinical significance of this abnormality and methods allowing to detect this translocation and its transcript are also discussed in this paper.. '), ('2159', 'MLLT10_MLL', 'p12;q23q14 / ', 'MLLT10', 'MLL', '23278644', '199', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', 'KB', '', 'Hyperdiploidy and duplication of der(11)ins(10;11)(p12;q23q14) in acute myeloid leukemia with MLL/MLLT10 fusion gene.. '), ('2160', 'SYT_SSX2', 'p11.2;q11.2 / ', 'SYT', 'SSX2', '7655467', '199', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Identification of two alternative fusion genes, SYT-SSX1 and SYT-SSX2, in t(X;18)(p11.2;q11.2)-positive synovial sarcomas.. '), ('2161', 'ETO_AML1', 'del(9q)  / t(8;21)  / t(8;21) / ', 'ETO', 'AML1', '18258796', '199', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'To determine the critical lost gene(s) that might cooperate with the AML1-ETO fusion gene produced by t(8;21), we developed a set of shRNAs directed against each gene in this region.     ///    Loss of TLE1 and TLE4 from the del(9q) commonly deleted region in AML cooperates with AML1-ETO to affect myeloid cell proliferation and survival..     ///    \"Our data are consistent with a model in which haploinsufficiency of these TLEs overcomes the negative survival and antiproliferative effects of AML1-ETO on myeloid progenitors, allowing preleukemic stem cells to expand into AML. \"    ///    \"Knockdown of Gro3, a TLE homolog in zebrafish, cooperated with AML1-ETO to cause an accumulation of noncirculating hematopoietic blast cells. \"'), ('2162', 'ETO_AML1', 't(8;21)  / t(8;21) / ', 'ETO', 'AML1', '7630188', '199', 'smoldering leukemia', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The two genes involved in the t(8;21) have been recently isolated and the cDNA of the AML1/ETO fusion gene identified. '), ('2163', 'LPP_HMGIC', 't(3;12)(q27-28;q14-15) / t(3;12)(q27-28;q14-q15) / ', 'LPP', 'HMGIC', '11066083', '199', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' The high frequency of the t(3;12)(q27-28;q14-15) in lipomas and pulmonary chondroid hamartomas (PCHs) makes the HMGIC-LPP fusion gene the most common fusion gene in a human tumor known so far.     ///    An identical HMGIC-LPP fusion transcript is consistently expressed in pulmonary chondroid hamartomas with t(3;12)(q27-28;q14-15)..     ///    \"By RT-PCR and restriction analysis, we have investigated the HMGIC-LPP fusion transcripts in a series of 13 PCHs with t(3;12)(q27-28;q14-q15). \"    ///    \"Nevertheless, there is no in-depth molecular analysis of the HMGIC-LPP fusion transcripts in PCHs. \"    ///    Our results clearly show that neither the histologic differences between lipomas and PCHs nor the histologic heterogeneity of PCHs can be explained by a molecular diversity of the HMGIC-LPP fusion transcript..     ///    HMGIC-LPP fusion transcripts of identical size were found in all PCHs tested.     ///    \"Certainly, a possible molecular variability of the HMGIC-LPP fusion may contribute to a better understanding of the histologic differences between lipomas and PCHs and the intratumoral histologic heterogeneity of PCHs. \"'), ('2164', 'FUS_CREB3L2', 't(7;16)(q33;p11) / ', 'FUS', 'CREB3L2', '16931951', '199', 'perineurioma', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Recent cytogenetic and molecular analyses have shown that most LGFMSs have a characteristic chromosomal abnormality, t(7;16)(q33;p11), resulting in the FUS-CREB3L2 fusion gene.     ///    The primers were newly designed to specifically amplify most of the junctional regions of the FUS-CREB3L2 fusion gene transcripts previously reported.     ///    The FUS-CREB3L2 fusion gene transcripts were detected in 14/16 (88%) cases of LGFMS.     ///    \"In the present study, we conducted a reverse transcription-polymerase chain reaction assay to detect the FUS-CREB3L2 fusion transcripts using formalin-fixed, paraffin-embedded tumor tissue specimens from 16 LGFMSs including 3 cases with giant collagen rosettes. \"    ///    \"Molecular detection of FUS-CREB3L2 fusion transcripts in low-grade fibromyxoid sarcoma using formalin-fixed, paraffin-embedded tissue specimens.. \"    ///    \"The FUS-CREB3L2 fusion transcripts were not detected in any of the 123 other soft-tissue tumors, including desmoid-type fibromatoses, myxofibrosarcomas, soft-tissue perineuriomas, and congenital or adult fibrosarcomas. \"    ///    \"These data suggest that our reverse transcription-polymerase chain reaction assay is a reliable method to detect FUS-CREB3L2, which can thus help in accurately diagnosing LGFMS.. \"    ///    \"These data suggest that our reverse transcription-polymerase chain reaction assay is a reliable method to detect FUS-CREB3L2, which can thus help in accurately diagnosing LGFMS..\"'), ('2165', 'ETO_AML1', 'del(9q)  / del(9q) / t(8;21) / t(8;21)  / del(19q) / ', 'ETO', 'AML1', '16015647', '199', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The critical gene products affected by del(9q) are unknown but likely cooperate with the AML1/ETO fusion gene created by t(8;21) in leukemogenesis. '), ('2166', 'MLLT4_MLL', 't(6;11)(q27;q23) / del(11q)  / ', 'MLLT4', 'MLL', '20545580', '199', '', '', '', '', '', '', '', 'KB', 'Seq', 'Identification of a MLL-MLLT4 fusion gene resulting from a t(6;11)(q27;q23) presenting as a del(11q) in a child with T-cell acute lymphoblastic leukemia.. '), ('2167', 'RARA_FIP1L1', 't(4;17) / ', 'RARA', 'FIP1L1', '18603554', '199', 'acute promyelocytic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'The seventh pathogenic fusion gene FIP1L1-RARA was isolated from a t(4;17)-positive acute promyelocytic leukemia.. '), ('2168', 'ETO_AML1', 't(8;21)  / del(9q) / ', 'ETO', 'AML1', '15968311', '199', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Seventy-two cases of t(8;21) AML were analyzed retrospectively, including features of morphology, initial blood cells, cytogenetic G-banding karyotype, immunophenotype, AML1/ETO fusion gene and clinical outcome. '), ('2169', 'FUS_ERG', 't(16;21)(p11;q22) / ', 'FUS', 'ERG', '16263589', '199', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'TLS/FUS-ERG fusion gene in acute lymphoblastic leukemia with t(16;21)(p11;q22) and monitoring of minimal residual disease..     ///    This is the first report of an ALL patient with a TLS/FUS-ERG fusion transcript..     ///    Reverse transcriptase-polymerase chain reaction (RT-PCR) and direct sequence analysis showed TLS/FUS-ERG chimeric mRNA with a novel junctional pattern of exon 7 of TLS/FUS and exon 6 of ERG.     ///    TLS/FUS-ERG chimeric mRNA was not detected after CR. '), ('2170', 'MYH11_CBFB', 'inv(16)  / ', 'MYH11', 'CBFB', '8585960', '199', '', '', '', '', '', '', '', '', '', 'Transforming properties of the leukemic inv(16) fusion gene CBFB-MYH11.. '), ('2171', 'MYH11_CBFB', 'inv(16)  / t(8;21) / inv(16) / ', 'MYH11', 'CBFB', '16504290', '199', 'granulocytic sarcoma;neuroectodermal tumor', '', '', '', '', '', '', '', '', 'Granulocytic sarcoma of mesentery in acute myeloid leukemia with CBFB/MYH11 fusion gene but not inv(16) chromosome: case report and review of literature..     ///    \"These observations suggest that when abdominal GS is diagnosed, an analysis of the CBFB/MYH11 fusion gene is necessary to make an appropriate decision regarding treatment options, even if no chromosomal abnormalities are found.. \"    ///    \"The chromosomal analysis was normal, but molecular analysis detected the CBFB/MYH11 fusion gene in the blasts. \"'), ('2172', 'HLF_E2A', 't(17;19)(q22;p13) / t(17;19) / ', 'HLF', 'E2A', '15070701', '199', 'acute lymphoblastic leukemia;acute promyelocytic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', '', '', ' In pro-B cell acute lymphoblastic leukemia (ALL), expression of the E2A-HLF fusion gene as a result of t(17;19)(q22;p13) is associated with poor prognosis, hypercalcemia, and hemorrhagic complications.     ///    \"Annexin II was expressed at high levels in APL cells and in each of 4 t(17;19)+ leukemia cell lines, and annexin II expression was induced by enforced expression of E2A-HLF in leukemia cells. \"    ///    \"Moreover, E2A-HLF increased annexin II expression in IL-3-dependent cells in the absence of the cytokine. \"    ///    These findings indicate that E2A-HLF induces annexin II by substituting for cytokines that activate downstream pathways of Ras..     ///    Regulation of annexin II by cytokine-initiated signaling pathways and E2A-HLF oncoprotein..     ///    We previously reported that the E2A-HLF fusion protein protects interleukin-3 (IL-3)-dependent lymphoid cells from apoptosis caused by cytokine starvation. '), ('2173', 'SYT_SSX1', 'p11.2;q11.2 / ', 'SYT', 'SSX1', '7655467', '199', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Identification of two alternative fusion genes, SYT-SSX1 and SYT-SSX2, in t(X;18)(p11.2;q11.2)-positive synovial sarcomas.. '), ('2174', 'PDGFRB_ETV6', 't(5;12)(q33;p13) / ', 'PDGFRB', 'ETV6', '15036944', '199', 'acute myeloid leukemia', '', 'Kinase', '', '', 'Receptor', '', 'KB', '', 'Here we report a pediatric patient with aCML and a t(5;12)(q33;p13) with a corresponding fusion gene ETV6-PDGFRB. '), ('2175', 'DEK_CAN', 't(6;9)(p23;q34) / ', 'DEK', 'CAN', '9488438', '199', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', '', '', '', '', '', '', '', '', ' The human CAN gene was first identified as a target of t(6;9)(p23;q34), associated with acute myeloid leukemia and myelodysplastic syndrome, which results in the expression of a DEK-CAN fusion gene.     ///    We overexpressed CAN and DEK-CAN in U937 myeloid precursor cells.     ///    \"DEK-CAN expression did not interfere with terminal myeloid differentiation of U937 cells, whereas CAN-overexpressing cells arrested in G0, accumulated mRNA in their nuclei, and died in an apoptotic manner. \"'), ('2176', 'PDGFRA_FIP1L1', 'del(4)(q12;q12) / ', 'PDGFRA', 'FIP1L1', '16430106', '199', 'hypereosinophilic syndrome,;left ventricular dysfunction', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The identification of a specific intersticial chromosome deletion del(4)(q12;q12) creating the FIP1L1-PDGFRA fusion gene confirmed this hypothesis. '), ('2177', 'RARA_NPM', 't(5;17)  / t(15;17)  / t(11;17)  / ', 'RARA', 'NPM', '9204984', '199', '', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'Our group has identified a variant of APL characterized by t(5;17) and expression of the NPM-RAR fusion gene product. '), ('2178', 'RUNX1T1_RUNX1', 't(8;21)  / ', 'RUNX1T1', 'RUNX1', '26361793', '199', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'We show in this study that both overexpression and knockout of microRNA (miR)-126 surprisingly result in enhanced leukemogenesis in cooperation with the t(8;21) fusion genes AML1-ETO/RUNX1-RUNX1T1 and AML1-ETO9a (a potent oncogenic isoform of AML1-ETO). '), ('2179', 'SYK_ITK', 't(5;9)  / ', 'SYK', 'ITK', '20439538', '199', 'peripheral T cell lymphoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'A newly developed model of peripheral T cell lymphoma (PTCL) using the ITK-SYK fusion gene should serve as a powerful tool to dissect the signaling cascades important for SYK-associated malignancy in the context of t(5;9) PTCL.. '), ('2180', 'RUNX1_ETV6', 't(12;21) / ', 'RUNX1', 'ETV6', '26580398', '199', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' Childhood acute lymphoblastic leukemia (ALL) with t(12;21), which results in expression of the ETV6/RUNX1 fusion gene, is the most common chromosomal lesion in precursor-B (pre-B) ALL.     ///    A Double Negative Loop Comprising ETV6/RUNX1 and MIR181A1 Contributes to Differentiation Block in t(12;21)-Positive Acute Lymphoblastic Leukemia..     ///    \"Taken together, our results demonstrate that MIR181A1 and ETV6/RUNX1 regulate each other, and we propose that a double negative loop involving MIR181A1 and ETV6/RUNX1 may contribute to ETV6/RUNX1-driven arrest of differentiation in pre-B ALL. \"    ///    We identified 17 microRNAs that were downregulated in ETV6/RUNX1+ compared with ETV6/RUNX1- clinical samples.     ///    \"Using chromatin immunoprecipitation, we demonstrated that ETV6/RUNX1 directly binds the regulatory region of MIR181A1, and knockdown of ETV6/RUNX1 increased miR-181a-1 level. \"    ///    \"We further showed that miR-181a (functional counterpart of miR-181a-1) could target ETV6/RUNX1 and cause a reduction in the level of the oncoprotein ETV6/RUNX1, cell growth arrest, an increase in apoptosis, and induction of cell differentiation in ETV6/RUNX1+ cell line. \"'), ('2181', 'PRKCD_LAMTOR1', 't(3;11)(p21;q13) / del(6)(p23) / t(3;11)  / ', 'PRKCD', 'LAMTOR1', '26432191', '199', 'fibrous histiocytoma;histiocytoma\r\r', 'PCR;RT-PCR', 'Kinase', '', '', '', '', '', '', 'LAMTOR1-PRKCD and NUMA1-SFMBT1 fusion genes identified by RNA sequencing in aneurysmal benign fibrous histiocytoma with t(3;11)(p21;q13)..     ///    \" RNA sequencing of an aneurysmal benign fibrous histiocytoma with the karyotype 46,XY,t(3;11)(p21;q13),del(6)(p23)[17]/46,XY[2] showed that the t(3;11) generated two fusion genes: LAMTOR1-PRKCD and NUMA1-SFMBT1. \"    ///    The data support a neoplastic genesis of aneurysmal benign fibrous histiocytoma and indicate a pathogenetic role for LAMTOR1-PRKCD and NUMA1-SFMBT1.     ///    \"In the LAMTOR1-PRKCD fusion, the part of the PRKCD gene coding for the catalytic domain of the serine/threonine kinase is under control of the LAMTOR1 promoter. \"'), ('2182', 'RUNX1_MTG16', 't(16;21)(q24;q22) / ', 'RUNX1', 'MTG16', '21054152', '199', 'leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'RUNX1-MTG16 fusion gene in de novo acute myeloblastic leukemia with t(16;21)(q24;q22).. '), ('2183', 'ETO_AML1', 't(8;21)  / inv(16) / t(16;16) / ', 'ETO', 'AML1', '12895392', '199', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' The core-binding factor (CBF) leukemias comprise acute myeloid leukemia (AML) with t(8;21) and inv(16)/t(16;16), characterized by the presence of the AML1-ETO and CBFbeta-MYH11 fusion genes, respectively.     ///    Monitoring AML1-ETO and CBFbeta-MYH11 transcripts in acute myeloid leukemia.. '), ('2184', 'ZBTB16_RARA', 't(11;17)(q23;q21) / t(11;17)(q23;q12) / t(15;17)(q22;q12) / ', 'ZBTB16', 'RARA', '23071480', '199', 'pulmonary tuberculosis;tuberculosis', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', '', 'The variant APL with t(11;17)(q23;q21) cases that are associated with the ZBTB16/RARA fusion gene have been reported as being resistant to all-trans-retinoic acid (ATRA).     ///    ZBTB16/RARA. '), ('2185', 'PDGFRA_FIP1L1', 'del(4)(q12q12) / ', 'PDGFRA', 'FIP1L1', '14676627', '199', 'leukemia;hypereosinophilic syndrome;hematopoietic malignancy\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The FIP1L1-PDGFRA fusion gene is generated by a cryptic interstitial chromosomal deletion, del(4)(q12q12), which indicates that these cases are clonal hematopoietic malignancies and should be reclassified as chronic eosinophilic leukemias based on current World Health Organization recommendations.     ///    \"In addition, the FIP1L1-PDGFRA fusion gene was also identified in cases with systemic mast cell disease. \"    ///    The discovery of the FIP1L1-PDGFRA fusion gene in the hypereosinophilic syndrome is an example of the power of clinical translational research and identifies interstitial chromosomal deletion as a novel mechanism to generate oncogenic tyrosine kinase fusion genes..     ///    \"In vitro and in vivo studies confirmed that FIP1L1-PDGFRalpha is a therapeutic target of imatinib, forming a rational basis for the treatment of FIP1L1-PDGFRA positive chronic eosinophilic leukemia and mastocytosis with imatinib. \"'), ('2186', 'BCR_ABL1', 't(9;22)(q34;q11) / ', 'BCR', 'ABL1', '23521501', '199', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The BCR/ABL1 fusion gene, usually carried by the Philadelphia chromosome (Ph) resulting from t(9;22)(q34;q11) or variants, is pathognomonic for chronic myeloid leukaemia (CML).     ///    The latter two losses have been shown to be part of \'hot spot\' genome imbalances associated with BCR/ABL1 positive pre-B lymphoid phenotype in CML and Ph(+)ALL.     ///    We applied Significance Analysis of Microarrays (SAM) to data from the \'hot spot\' regions to the Ph(+)AML and a further 40 BCR/ABL1(+) samples looking for differentiating features.     ///    Does BCR/ABL1 positive acute myeloid leukaemia exist?. '), ('2187', 'MYH11_CBFB', 'inv(16)  / inv(16) / ', 'MYH11', 'CBFB', '22160378', '199', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'It is therefore important to verify that KIT mutations cooperate with CBFB-MYH11, the fusion gene generated by inv(16), for leukemogenesis.     ///    KIT with D816 mutations cooperates with CBFB-MYH11 for leukemogenesis in mice..     ///    Our data provide clear evidence for cooperation between mutated KIT and CBFB-MYH11 during leukemogenesis.. '), ('2188', 'SFMBT1_NUMA1', 't(3;11)(p21;q13) / del(6)(p23) / t(3;11)  / ', 'SFMBT1', 'NUMA1', '26432191', '199', 'fibrous histiocytoma;histiocytoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' RNA sequencing of an aneurysmal benign fibrous histiocytoma with the karyotype 46,XY,t(3;11)(p21;q13),del(6)(p23)[17]/46,XY[2] showed that the t(3;11) generated two fusion genes: LAMTOR1-PRKCD and NUMA1-SFMBT1.     ///    LAMTOR1-PRKCD and NUMA1-SFMBT1 fusion genes identified by RNA sequencing in aneurysmal benign fibrous histiocytoma with t(3;11)(p21;q13)..     ///    The data support a neoplastic genesis of aneurysmal benign fibrous histiocytoma and indicate a pathogenetic role for LAMTOR1-PRKCD and NUMA1-SFMBT1.     ///    \"In the NUMA1-SFMBT1 fusion, the part of the SFMBT1 gene coding for two of four malignant brain tumor domains and the sterile alpha motif domain is controlled by the NUMA1 promoter. \"'), ('2189', 'NFIA_CBFA2T3', 't(1;16)(p31;q24) / ', 'NFIA', 'CBFA2T3', '23032695', '199', 'leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'High-throughput sequencing identifies an NFIA/CBFA2T3 fusion gene in acute erythroid leukemia with t(1;16)(p31;q24).. '), ('2190', 'MTG16_AML1', 't(16;21)(q24;q22) / ', 'MTG16', 'AML1', '10995019', '199', '', '', '', '', '', '', '', '', '', 'AML1-MTG16 fusion gene in therapy-related acute leukemia with t(16;21)(q24;q22): two new cases.. '), ('2191', 'BCR_ABL1', 't(9;22) / ', 'BCR', 'ABL1', '27040932', '199', 'leukemoid reaction', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Patients with chronic myelogenous leukemia (CML) present typically with an elevated white blood cell count (WBC) and cytogenetic or molecular genetic evidence of t(9;22)/BCR-ABL1 fusion gene.     ///    \"In all patients, t(9;22)(q34;q11.2) was detected by conventional cytogenetics, and BCR-ABL1 fusion was shown, supporting the diagnosis of preleukemic CML (pre-CML). \"'), ('2192', 'ETO_AML1', 't(8;21) / inv(16) / ', 'ETO', 'AML1', '20931398', '199', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'In addition, through in vitro colony-forming/replating assays, we demonstrated that forced expression of miR-126 enhanced proliferation and colony-forming/replating capacity of mouse normal bone marrow progenitor cells alone and particularly, in cooperation with AML1-ETO, a fusion gene resulting from t(8;21).     ///    \"In a large-scale miRNA expression profiling analysis of 435 human miRNAs in 52 acute myeloid leukemia (AML) samples, we found that miR-126 and its minor counterpart in biogenesis, namely, miR-126*, were specifically aberrantly overexpressed in core binding factor (CBF) AMLs including both t(8;21)/AML1-ETO and inv(16)/CBFB-MYH11 samples. \"'), ('2193', 'RARA_BCOR', 'p11.4;q21 / ', 'RARA', 'BCOR', '25790901', '199', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', 'Tumor_suppressor', 'Receptor', 'Transcription_Factor', '', '', 'Successful treatment of acute promyelocytic leukemia with a t(X;17)(p11.4;q21) and BCOR-RARA fusion gene.. '), ('2194', 'FUS_ERG', 't(16;21)(p11;q22) / t(16;21) / t(16;21)  / ', 'FUS', 'ERG', '9242552', '198', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'In this study, we analyzed the clinical characteristics of 19 patients with t(16;21)-AML, including 2 patients who evolved from myelodysplastic syndrome, and detected the chimeric transcripts of the TLS/FUS-ERG fusion gene in the patients during various clinical stages by the reverse transcriptase-polymerase chain reaction (RT-PCR) technique.     ///    The rearrangement of the two chromosomes forms the TLS/FUS-ERG fusion gene and produces a consistent chimeric transcript on the der (21) chromosome.     ///    Consistent detection of TLS/FUS-ERG chimeric transcripts in acute myeloid leukemia with t(16;21)(p11;q22) and identification of a novel transcript..     ///    Four types of TLS/FUS-ERG chimeric transcripts including a novel type were noted in the RT-PCR analysis. '), ('2195', 'UHRF1_NRIP1', 't(19;21) / t(9;22)  / t(19;21)  / t(9;22) / 19p13.3 / ', 'UHRF1', 'NRIP1', '22285022', '198', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Array comparative genomic hybridization (aCGH) analysis identified UHRF1 and NRIP1 as genes that were interrupted at the breakpoints of 19p13.3 and 21q21.1, and joined together as a possible fusion gene, 5\'-NRIP1/UHRF1-3\', on the derivative chromosome 19.     ///    A possible 5\'-NRIP1/UHRF1-3\' fusion gene detected by array CGH analysis in a Ph+ ALL patient.. '), ('2196', 'BCL2_IGH', 't(14;18)  / ', 'BCL2', 'IGH', '20103721', '198', 'B cell leukemia;T cell leukemia', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' The human antiapoptotic bcl-2 gene has been discovered in t(14;18) B-cell leukemias/lymphomas because of its overexpression caused at a transcriptional control level by the bcl-2/IgH fusion gene. '), ('2197', 'SEPT2_MLL', 't(2;11)(q37;q23) / ', 'SEPT2', 'MLL', '17574968', '197', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The t(2;11)(q37;q23) is a rare recurrent cytogenetic abnormality associated with de novo and therapy-related acute myeloid leukemia, resulting in a MLL-SEPT2 fusion gene.     ///    A new subtype of MLL-SEPT2 fusion transcript in therapy-related acute myeloid leukemia with t(2;11)(q37;q23): a case report and literature review..     ///    We report on a case of therapy-related acute myeloid leukemia M2 showing a t(2;11)(q37;q23) and resulting in a new subtype of a MLL-SEPT2 chimeric transcript. '), ('2198', 'HLF_E2A', 't(17;19)(q22;p13) / t(17;19) / ', 'HLF', 'E2A', '8164688', '197', 'leukemia\r\r', '', '', 'Oncogene', '', '', '', '', '', 'The E2A-HLF fusion gene, formed by a t(17;19)(q22;p13) in childhood pro-B-cell acute lymphoid leukemia, encodes a hybrid protein that contains the trans-activation domain of E2A (E12/E47) linked to the bZIP DNA-binding and dimerization domain of hepatic leukemia factor (HLF).     ///    \"A probe containing this sequence bound chimeric E2A-HLF proteins in nuclear extracts of a leukemic cell line (UOC-B1) containing the t(17;19), as demonstrated by complexes supershifted with antibodies specific for amino-terminal epitopes of E2A or carboxyl-terminal eptiopes of HLF. \"    ///    \"The ability of the E2A-HLF hybrid protein to bind DNA in a sequence-specific manner and trans activate the expression of artificial reporter genes suggests that it could subvert transcriptional programs that normally control the growth, differentiation, and survival of lymphoid progenitor cells.. \"    ///    \"Here we report that both HLF and E2A-HLF bind to a 10-bp consensus sequence, 5\'-GTTACGTAAT-3\', with a core dyad-symmetric motif characteristic of the bZIP scissors-grip model of DNA binding. \"    ///    E2A-HLF functioned as a potent trans activator of reporter gene expression from a plasmid that contained the consensus DNA-binding sequence.     ///    DNA-binding specificity and trans-activating potential of the leukemia-associated E2A-hepatic leukemia factor fusion protein.. '), ('2199', 'TEL_AML1', 't(12;21)(p13;q22) / ', 'TEL', 'AML1', '12127395', '197', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The recently identified TEL/AML1 (CBFA2/EVT6) fusion gene occurs as a result of the t(12;21)(p13;q22) in approximately 25% of children with diagnosed pre-B-cell acute lymphoblastic leukemia (PBC-ALL). '), ('2200', 'ETV6_AML1', 't(12;21)  / t(12;21) / ', 'ETV6', 'AML1', '9233592', '197', '', '', '', '', '', '', '', '', '', ' The t(12;21) is a recurring chromosomal abnormality in acute lymphoblastic leukaemias (ALLs) which results in the production of an ETV6-AML1 fusion gene.     ///    \"In two patients with a t(12;21) but no deletion of ETV6, four bands were detected corresponding to both the normal ETV6 and ETV6-AML1 proteins, suggesting that in these cases the second ETV6 allele was not inactivated. \"    ///    \"In the REH cell line, which expresses the ETV6-AML1 fusion transcript and no normal ETV6 mRNA, the ETV6 isoforms were absent and two new bands were detected corresponding to ETV6-AML1 protein products (apparent m.w. \"    ///    \"In order to study the proteins encoded by ETV6 and ETV6-AML1, we raised polyclonal antibodies directed against a recombinant peptide corresponding to the junctional region of ETV6-AML1. \"    ///    Analysis of ETV6 and ETV6-AML1 proteins in acute lymphoblastic leukaemia.. '), ('2201', 'JAK2_BCR', 'p24;q11 / t(9;22)(p24;q11) / ', 'JAK2', 'BCR', '25789185', '197', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Here, we report an unclassified case of MPN (MPN-U) showing a t(9;22)(p24;q11), which generates a BCR-JAK2 fusion gene by fusing the BCR at intron 13 to JAK2 at intron 17 on the derivative chromosome 22.     ///    Transformation of an Unclassified Myeloproliferative Neoplasm with a Rare BCR-JAK2 Fusion Transcript Resulting from the Translocation (9;22)(p24;q11)..     ///    \"To the best of our knowledge, this is the thirteenth case reported worldwide to describe a BCR-JAK2 fusion transcript in MPN-U. \"'), ('2202', 'DUX4_CIC', 't(4;19)(q35;q13) / ', 'DUX4', 'CIC', '24950227', '197', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The \"grep\" command but not FusionMap, FusionFinder or ChimeraScan captures the CIC-DUX4 fusion gene from whole transcriptome sequencing data on a small round cell tumor with t(4;19)(q35;q13)..     ///     Whole transcriptome sequencing was used to study a small round cell tumor in which a t(4;19)(q35;q13) was part of the complex karyotype but where the initial reverse transcriptase PCR (RT-PCR) examination did not detect a CIC-DUX4 fusion transcript previously described as the crucial gene-level outcome of this specific translocation.     ///    \"New primer combinations were constructed based on these findings and were used together with a polymerase suitable for amplification of GC-rich DNA templates to amplify CIC-DUX4 cDNA fragments which had the same fusion point found with \"\"grep\"\". \"    ///    \"In conclusion, FusionMap, FusionFinder, and ChimeraScan generated a plethora of fusion transcripts but did not detect the biologically important CIC-DUX4 chimeric transcript. \"    ///    \"FusionMap, FusionFinder, and ChimeraScan identified 1017, 102, and 101 fusion transcripts, respectively, but CIC-DUX4 was not among them. \"    ///    Fifteen chimeric CIC-DUX4 cDNA sequences were captured and the fusion between the CIC and DUX4 genes was mapped precisely. '), ('2203', 'NUP98_NSD3', 't(8;11)(p11;p15) / del(1)(p22p32) / ', 'NUP98', 'NSD3', '19380029', '196', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'NUP98-NSD3 fusion gene in radiation-associated myelodysplastic syndrome with t(8;11)(p11;p15) and expression pattern of NSD family genes..     ///    NUP98-NSD3 fusion transcripts have been detected previously in one patient with AML and one patient with t-MDS having t(8;11)(p11;p15).     ///    Reverse transcriptase-polymerase chain reaction (RT-PCR) followed by sequence analysis revealed the presence of both NUP98-NSD3 and NSD3-NUP98 fusion transcripts. '), ('2204', 'TLS_CHOP', 't(12;16)  / t(12;16) / ', 'TLS', 'CHOP', '11751490', '196', 'liposarcoma', 'PCR', '', '', '', '', '', '', '', ' A specific TLS-CHOP fusion gene resulting from the t(12;16) is present in at least 95% of myxoid liposarcomas (MLS).     ///    We analyzed TLS-CHOP fusion transcripts by reverse-transcription PCR using RNA extracted from frozen tissue in 82 MLS confirmed previously to harbor a CHOP rearrangement either by Southern blotting or by cytogenetic detection of the t(12;16).     ///    \"In contrast to some other translocation-associated sarcomas, the molecular variability of TLS-CHOP fusion transcript structure does not appear to have a significant impact on clinical outcome in MLS. \"    ///    \"Prognostic impact of P53 status, TLS-CHOP fusion transcript structure, and histological grade in myxoid liposarcoma: a molecular and clinicopathologic study of 82 cases.. \"    ///    \"The TLS-CHOP fusion transcript was type 5-2 in 55 (67%), type 7-2 in 16 cases (20%), and type 8-2 in 8 (10%). \"    ///    We sought to determine the impact of TLS-CHOP fusion transcript structure on clinical outcome in a group of well-characterized MLS cases.     ///    \"Although there was no significant correlation between TLS-CHOP transcript type and histological grade or disease-specific survival, an association was found between the P53 status and type 5-2 fusion (P < 0.01). \"    ///    \"Three common forms of the TLS-CHOP fusion have been described, differing by the presence or absence of TLS exons 6-8 in the fusion product. \"'), ('2205', 'NPM_ALK', 't(2;5)(p23;q35) / t(2;5) / ', 'NPM', 'ALK', '11532349', '196', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' The t(2;5)(p23;q35) translocation creates a fusion gene NPM-ALK (p80) that encodes a product with tyrosine kinase activity believed to play an important role in development of anaplastic large cell lymphoma (ALCL).     ///    \"Following herbimycin A treatment, a decrease in tyrosine kinase activity in the ALCL cell lines and inhibition in NPM-ALK (p80) autophosphorylation was demonstrated by immunoprecipitation and Western blotting. \"    ///    Inhibition of tyrosine kinase activity induces caspase-dependent apoptosis in anaplastic large cell lymphoma with NPM-ALK (p80) fusion protein.. '), ('2206', 'NPM_ALK', 'p23;q35 / t(2;5)  / ', 'NPM', 'ALK', '10994999', '196', 'anaplastic large cell lymphoma;non Hodgkin lymphoma;B cell lymphoma;lymphoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Cloning the translocation breakpoint and identifying the ALK and NPM genes provided tools for screening material from patients with ALCL using various approaches at the chromosome, DNA, RNA, or protein level: positive signals in the reverse transcriptase-polymerase chain reaction (RT-PCR) and the immunostaining with anti-ALK monoclonal antibodies (McAb) serve as the most convenient tests for detection of the t(2;5) NPM-ALK since the fusion gene and ALK protein expression do not occur in normal or reactive lymphoid tissue.     ///    Pathobiology of NPM-ALK and variant fusion genes in anaplastic large cell lymphoma and other lymphomas..     ///    \"Positivity for NPM-ALK is associated to various degrees with the following parameters: 44% and 45% of ALCL cases with T cell and Null cell immunophenotype, respectively, are positive, whereas only 8% of cases with a B cell immunoprofile are positive. \"    ///    The wide range of NPM-ALK positivity reported in different series appears to be dependent on the inclusion and selection criteria of the ALCL cases studied.     ///    The NPM-ALK chimeric gene encodes a constitutively activated tyrosine kinase that has been shown to be a potent oncogene. '), ('2207', 'NUP98_NSD', 't(8;11)(p11;p15) / del(1)(p22p32) / ', 'NUP98', 'NSD', '19380029', '196', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'NUP98-NSD3 fusion gene in radiation-associated myelodysplastic syndrome with t(8;11)(p11;p15) and expression pattern of NSD family genes.. '), ('2208', 'ETV6_NTRK3', 't(12;15) (p13;q25) / / ', 'ETV6', 'NTRK3', '26496413', '195', 'salivary gland cancer\r\r', '', 'Kinase', '', '', '', '', 'KB', 'Seq', 'The presence of t(12;15) (p13;q25) translocation which results in the ETV6-NTRK3 gene fusion or positive immunochemical studies for STAT5, mammoglobin and S100 protein, are necessary to confirm the diagnosis of MASC.    ///    \"The presence of t(12;15) (p13;q25) translocation which results in the ETV6-NTRK3 gene fusion or positive immunochemical studies for STAT5, mammoglobin and S100 protein, are necessary to confirm the diagnosis of MASC. \"    ///    The inhibition of ETV6-NTRK3 gene fusion could be used as treatment in the future.. '), ('2209', 'CALM_AF10', 't(10;11)(p12;q14) / ', 'CALM', 'AF10', '22064352', '195', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', 'PCR', '', '', '', '', '', '', '', ' The t(10;11)(p12;q14) is a recurring chromosomal translocation that gives rise to the CALM/AF10 fusion gene, which is found in acute myeloid leukemia, acute lymphoblastic leukemia and malignant lymphoma.     ///    \"These results strongly indicate that the differential regulation of these three genes is not due to the break point effect but as a consequence of the CALM/AF10 fusion gene expression, though the mechanism of regulation is not well understood.. \"    ///    We also conducted semiquantitative reverse transcriptase-PCR analysis on leukemic blasts from a murine CALM/AF10 transplantation model that does not have the translocation.     ///    \"We analyzed the fusion transcripts in 20 new cases of CALM/AF10-positive leukemias, and compared the gene expression profile of 10 of these to 125 patients with other types of leukemia and 10 normal bone marrow samples. \"    ///    \"Based on gene set enrichment analyses, the CALM/AF10-positive samples showed significant upregulation of genes involved in chromatin assembly and maintenance and DNA repair process, and downregulation of angiogenesis and cell communication genes. \"    ///    CALM/AF10-positive leukemias show upregulation of genes involved in chromatin assembly and DNA repair processes and of genes adjacent to the breakpoint at 10p12.. '), ('2210', 'BCR_ABL1', 't(9;22)(q34;q11) / ', 'BCR', 'ABL1', '20082691', '195', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The hallmark genetic abnormality of CML is a chimeric BCR/ABL1 fusion gene resulting from the Philadelphia chromosome rearrangement t(9;22)(q34;q11).     ///    \"Clinical and laboratory studies indicate that the BCR/ABL1 fusion protein is essential for initiation, maintenance and progression of CML, yet the event(s) driving the transformation from chronic phase to blast phase are poorly understood. \"'), ('2211', 'NUP98_DDX10', 'inv(11)(p15q22) / ', 'NUP98', 'DDX10', '15721630', '194', 'myelodysplastic syndrome;leukemia\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Clonal evolution with inv(11)(p15q22) and NUP98/DDX10 fusion gene in imatinib-resistant chronic myelogenous leukemia..     ///    These observations raise a possibility that the NUP98/DDX10 fusion might be involved in imatinib resistance as well as in acute transformation of CML.. '), ('2212', 'RUNX1_ETV6', 't(12;21)(p13;q22) / ', 'RUNX1', 'ETV6', '26852652', '194', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'We have identified leukemia fusion gene ETV6/RUNX1 mRNA to be highly enriched in immunoprecipitated fraction of endogenous IGF2BP1 from a model cell line REH and t(12;21)(p13;q22)-positive ALL samples.     ///    \"Furthermore, downregulation of IGF2BP1 by two-fold has resulted in a corresponding decrease of ETV6/RUNX1 mRNA validating this transcript as a target of IGF2BP1 protein in t(12;21)(p13;q22)-positive ALL. \"    ///    ETV6/RUNX1 transcript is a target of RNA-binding protein IGF2BP1 in t(12;21)(p13;q22)-positive acute lymphoblastic leukemia..     ///    These data infer that IGF2BP1 is a potent regulator of ETV6/RUNX1 mRNA stability and potentially link this evolutionary-highly conserved protein to cell transformation events in ETV6/RUNX1-mediated leukemogenesis of t(12;21)(p13;q22)-positive ALL. '), ('2213', 'NPM_ALK', 't(2;5)  / t(2;5) / ', 'NPM', 'ALK', '21312108', '194', 'non Hodgkin lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Recently, however, two recurrent genetic abnormalities in large-cell NHL-activation of the BCL6/LAZ3 zinc finger gene located at 3q27 (altered in approx 30% of large-cell lymphomas [2-4]) and the NPM-ALK fusion gene (5-7) produced by the t(2;5)-have been analyzed to now permit the identification of patient subsets that have reproducibly different therapeutic responses and survival rates in most studies, both of these molecular genetic subtypes appearing to have a superior prognosis compared to those cases lacking these gene abnormalities..     ///    NPM-ALK Reverse Transcriptase-Polymerase Chain Reaction for Detecting the t(2;5) of Non-Hodgkin\'s Lymphoma.. '), ('2214', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '9624536', '194', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', ' Acute promyelocytic leukemia (APL) is characterized by the t(15;17) cytogenetic abnormality leading to the expression of two fusion genes, PML/RARA and RARA/PML, and by its sensitivity to all-trans retinoic acid (ATRA) differentiating treatment.     ///    In vitro response to all-trans retinoic acid of acute promyelocytic leukemias with nonreciprocal PML/RARA or RARA/PML fusion genes..     ///    \"These insertions lead to the formation of potentially functional, nonreciprocal, PML/RARA or RARA/PML fusion genes, providing the unique opportunity to investigate in a human noncell-line model the respective role of PML/RARA or RARA/PML in retinoid signaling. \"    ///    \"The two cases expressing PML/RARA presented with an immunostaining pattern typical of APL and a positive response to ATRA, whereas the APL case expressing only a RARA/PML fusion transcript exhibited an immunostaining pattern typical of non-APL cells, and was resistant to ATRA. \"    ///    \"Our results confirm that sensitivity to ATRA requires expression of PML/RARA and strongly correlates with immunostaining, and demonstrate that expression of RARA/PML alone is sufficient for a cytological APL phenotype, but does not confer sensitivity to ATRA.. \"    ///    \"Here, we report the in vitro response to ATRA of these two cases as well as of a third case presenting with submicroscopic insertion (15;17) and expressing exclusively PML/RARA, by morphological, functional, and immunological assays. \"'), ('2215', 'RUNX1T1_RUNX1', 't(8;21) / t(8;21)  / ', 'RUNX1T1', 'RUNX1', '24109526', '194', 'granulocytic sarcoma', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'This variety of AML harbors t(8;21) in up to 20-25% of cases (especially in children and black ones of African origin) and, at a molecular level, it is characterized by the generation of a fusion gene known as RUNX1-RUNX1T1. '), ('2216', 'MYO1F_MLL', '19p13.2 / t(11;19)(q23;p13) / t(11;19)  / ', 'MYO1F', 'MLL', '15897884', '193', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'At the cytogenetic level, it may be difficult to distinguish MLL-ENL, MLL-ELL, MLL-EEN and MLL-MYO1F fusions created by t(11;19)(q23;p13), and it is likely that cases of t(11;19) lacking a known fusion gene may result in this gene fusion..     ///    \"The MLL-MYO1F fusion protein contains almost the entire MYO1F, however, C-terminal MYO1F has neither the transactivation domain nor the dimerization domain found in various MLL fusion partners. \"'), ('2217', 'MLL_ENL', '19p13.2 / t(11;19)(q23;p13) / t(11;19)  / ', 'MLL', 'ENL', '15897884', '193', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'At the cytogenetic level, it may be difficult to distinguish MLL-ENL, MLL-ELL, MLL-EEN and MLL-MYO1F fusions created by t(11;19)(q23;p13), and it is likely that cases of t(11;19) lacking a known fusion gene may result in this gene fusion.. '), ('2218', 'MLL_EEN', '19p13.2 / t(11;19)(q23;p13) / t(11;19)  / ', 'MLL', 'EEN', '15897884', '193', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'At the cytogenetic level, it may be difficult to distinguish MLL-ENL, MLL-ELL, MLL-EEN and MLL-MYO1F fusions created by t(11;19)(q23;p13), and it is likely that cases of t(11;19) lacking a known fusion gene may result in this gene fusion.. '), ('2219', 'MLL_ELL', '19p13.2 / t(11;19)(q23;p13) / t(11;19)  / ', 'MLL', 'ELL', '15897884', '193', 'leukemia\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'At the cytogenetic level, it may be difficult to distinguish MLL-ENL, MLL-ELL, MLL-EEN and MLL-MYO1F fusions created by t(11;19)(q23;p13), and it is likely that cases of t(11;19) lacking a known fusion gene may result in this gene fusion.. '), ('2220', 'RARA_PML', 't(15;17)  / t(15;17) / t(5;17)  / t(11;17)(q23;q21) / t(11;17) / ', 'RARA', 'PML', '10942370', '192', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', '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.     ///    There were no major differences observed in morphology or immunophenotype between cases with the classic t(15;17) and those with the cryptic PML/RARA gene rearrangements. '), ('2221', 'NUP98_HOXD', 't(2;11)(q31;p15) / ', 'NUP98', 'HOXD', '11782354', '192', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Our results revealed that t(2;11)(q31;p15) was not a single chromosomal abnormality and that the NUP98-HOXD fusion genes encode similar fusion proteins, which suggests that the NUP98-HOXD11 as well as NUP98-HOXD13 fusion protein play a role in leukemogenesis through similar mechanisms.. '), ('2222', 'PAX3_FOXO1', 't(2;13)  / t(1;13)  / ', 'PAX3', 'FOXO1', '21177767', '191', 'rhabdomyosarcoma;sarcoma\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'Alveolar rhabdomyosarcoma (ARMS) is characterized by the t(2;13) or t(1;13) chromosomal translocations, which generate the PAX3-FOXO1 or PAX7-FOXO1 fusion genes, respectively.     ///    IRIZIO: a novel gene cooperating with PAX3-FOXO1 in alveolar rhabdomyosarcoma (ARMS)..     ///    \"Tumors formed by Arf-/-/PAX3-FOXO1/MarX-library myoblasts contained an unknown cDNA, encoding the C-terminus of the Homo sapiens hypothetical protein, FLJ10404, herein named IRIZIO. \"    ///    Expression of full length IRIZIO cDNA also cooperated with PAX3-FOXO1 in the transformation of Arf-/- myoblasts.     ///    \"The oncogenic activity of PAX3-FOXO1 has been demonstrated in vitro and in vivo, yet expression of the fusion protein alone in primary myoblasts or a mouse model is insufficient for tumorigenic transformation. \"    ///    \"To identify genes cooperating with PAX3-FOXO1 in ARMS tumorigenesis, we generated a retroviral complementary DNA (cDNA) expression library from the Rh30 ARMS cell line. \"    ///    Arf-/- myoblasts expressing PAX3-FOXO1 and the retroviral cDNA library rapidly formed tumors after subcutaneous injection into NOD-SCID mice.     ///    \"To identify genes cooperating with PAX3-FOXO1 in ARMS tumorigenesis, we generated a retroviral complementary DNA (cDNA) expression library from the Rh30 ARMS cell line.\"'), ('2223', 'TFE3_ASPL', 'p11.2;q25 / ', 'TFE3', 'ASPL', '18382356', '191', 'alveolar soft part sarcoma', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'A specific chromosomal translocation, t(X;17)(p11.2;q25), results in the ASPL-TFE3 fusion gene: it is detectable using reverse-transcription polymerase chain reaction (RT-PCR) in frozen tumor tissues of ASPS.     ///    \"Here, we report the first systematic study applying TFE3 immunoassay and ASPL-TFE3 fusion transcript detection to archival paraffin-embedded tissues in a large Chinese ASPS patient population. \"    ///    No expression of ASPL-TFE3 fusion transcripts was detectable in all 38 control tumors.     ///    Alveolar soft part sarcoma: a bimarker diagnostic strategy using TFE3 immunoassay and ASPL-TFE3 fusion transcripts in paraffin-embedded tumor tissues..     ///    \"Of these 11, 7 were type 1 ASPL-TFE3 and 4 were type 2 ASPL-TFE3, including the tumor located in the renal hilum. \"    ///    \"Our results demonstrate that the \"\"bimarker strategy,\"\" a combination of TFE3 immunostaining and ASPL-TFE3 chimeric transcript detection, might have sufficient sensitivity and specificity in diagnosing most of the ASPSs. \"    ///    \"Using a strategy of RT-PCR, followed by a nested PCR with a different primer set, we were able to detect the expression of the chimeric ASPL-TFE3 mRNA in 11 of the 16 ASPS tumors. \"'), ('2224', 'EWSR1_ATF1', '', 'EWSR1', 'ATF1', '26163185', '191', 'clear cell sarcoma', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'EWSR1 gene rearrangements including EWSR1-ATF1 or EWSR1-CREB1 GENE fusions are typically assessed in these tumors. '), ('2225', 'PAX7_FOXO1', 't(2;13)  / t(1;13)  / ', 'PAX7', 'FOXO1', '21177767', '191', 'rhabdomyosarcoma;sarcoma\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'Alveolar rhabdomyosarcoma (ARMS) is characterized by the t(2;13) or t(1;13) chromosomal translocations, which generate the PAX3-FOXO1 or PAX7-FOXO1 fusion genes, respectively. '), ('2226', 'VCL_ALK', '', 'VCL', 'ALK', '25413595', '191', 'histiocytoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Epithelioid cell histiocytoma of the skin with clonal ALK gene rearrangement resulting in VCL-ALK and SQSTM1-ALK gene fusions.. ');
INSERT INTO `ChimerPub_dump` VALUES ('2227', 'ETO_AML1', 't(8;21)  / inv(16) / inv(16)  / ', 'ETO', 'AML1', '18206229', '189', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'To better understand the leukemogenic mechanism of these fusion proteins, we performed gene expression studies in samples from (8;21), AML1 mutated and inv(16) patients, as well as from the Kasumi-1 cell line and a U937 cell line expressing the AML1-ETO fusion gene. '), ('2228', 'NTRK3_ETV6', 't(12;15) / ', 'NTRK3', 'ETV6', '22129193', '189', 'breast carcinoma;breast carcinoma\r\r', '', 'Kinase', '', '', '', '', 'KB', 'Seq', 'Recent studies have shown the characteristic molecular feature: a balanced translocation t(12;15), resulting in an ETS variant 6-neurotrophic tyrosine kinase receptor type 3 (ETV6-NTRK3) fusion gene encoding a chimeric tyrosine kinase. '), ('2229', 'NTRK3_ETV6', 't(12;15)(p13;q25) / ', 'NTRK3', 'ETV6', '23131561', '189', 'leukemia;breast carcinoma;sarcoma\r\r', '', 'Kinase', '', '', '', '', 'KB', 'Seq', ' The ETV6-NTRK3 (EN) fusion gene which encodes a chimeric tyrosine kinase was first identified by cloning of the t(12;15)(p13;q25) translocation in congenital fibrosarcoma (CFS).     ///    ETV6-NTRK3 as a therapeutic target of small molecule inhibitor PKC412.. '), ('2230', 'SYT_SSX2', 'p11.2;q11.2 / ', 'SYT', 'SSX2', '26774699', '189', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Cytogenetically, more than 90% of SS is characterized by the t(X;18)(p11.2;q11.2), translocation resulting in two chimeric fusion genes SYT-SSX1?and SYT-SSX2, confirming histological diagnosis. '), ('2231', 'SYT_SSX1', 'p11.2;q11.2 / ', 'SYT', 'SSX1', '26774699', '189', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Cytogenetically, more than 90% of SS is characterized by the t(X;18)(p11.2;q11.2), translocation resulting in two chimeric fusion genes SYT-SSX1?and SYT-SSX2, confirming histological diagnosis. '), ('2232', 'KIAA1549_BRAF', '19p13.3 / ', 'KIAA1549', 'BRAF', '26371886', '188', 'pilocytic astrocytoma\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Additionally, on chromosome 7, we identified the presence of the KIAA1549:BRAF gene fusion, which was further validated by RT-PCR and FISH.     ///    \"Our comprehensive molecular profiling of this RGNT suggests that MAPK pathway and methylome changes, driven by KIAA1549:BRAF fusion and MLL2 mutation, respectively, could be associated with the development of this rare tumor entity. \"    ///    \"Our comprehensive molecular profiling of this RGNT suggests that MAPK pathway and methylome changes, driven by KIAA1549:BRAF fusion and MLL2 mutation, respectively, could be associated with the development of this rare tumor entity.\"'), ('2233', 'MECOM_AML1', 't(3,21)(q26;q22) /  / ', 'MECOM', 'AML1', '15326310', '188', 'acute myeloid leukemia;chronic myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', '', '', 'Oncogene', '', '', '', '', '', ' The leukemic fusion gene AML1-MDS1-EVI1 (AME) encodes a chimeric transcription factor that results from the t(3,21)(q26;q22) translocation seen in patients with acute myeloid leukemia, with therapy-related myelodysplastic syndrome, or with chronic myeloid leukemia in blast crisis.     ///    The leukemic fusion gene AML1-MDS1-EVI1 suppresses CEBPA in acute myeloid leukemia by activation of Calreticulin.. '), ('2234', 'KLF15_EWSR1', '', 'KLF15', 'EWSR1', '26523541', '188', '', '', '', '', '', '', '', '', '', 'The EWSR1 translocation partner was identified as the Kruppel-like factor 15 (KLF15) gene in both tumors, and the novel EWSR1-KLF15 gene fusion transcripts were verified using reverse transcription polymerase chain reaction and Sanger dideoxy sequencing.     ///    \"The characterization of novel EWSR1-KLF15 fusion transcripts carries important diagnostic implications, as well as clues to understand the pathogenesis of these neoplasms. \"    ///    Expanding the Spectrum of Renal Tumors in Children: Primary Renal Myoepithelial Carcinomas With a Novel EWSR1-KLF15 Fusion.. '), ('2235', 'IGH_BCL2', 't(8;21) / t(15;17) / t(14;18)  / t(14;18) / t(8;21)  / t(15;17)  / ', 'IGH', 'BCL2', '18648008', '186', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Quantitative polymerase chain reaction analysis showed that 37 workers with benzene exposure had a decreased level of t(14;18) in their blood with only 16.2% having 10 or more copies of the t(14;18) BCL-2/IgH fusion gene/microg DNA, as opposed to 55% of 20 controls (P = .0063 by Fisher\'s exact test). '), ('2236', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '18037406', '186', 'embryonal carcinoma;teratocarcinoma', '', '', '', '', '', '', '', '', 'PEBP2alpha was found to be highly homologous to a Drosophila segmentation gene, runt, and a human gene AML1 that was identified as a part of the fusion gene, AML1/ETO (MTG8) generated by t(8;21) chromosome translocation associated with acute myelogenous leukemia (AML). '), ('2237', 'TEL_AML1', 't(12;21)(p13;q22) / t(12;21) / ', 'TEL', 'AML1', '11841400', '186', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The t(12;21)(p13;q22) with the TEL-AML1 fusion gene is present in approximately 25% of children with B-precursor ALL.     ///    \"Therefore, we conclude that the TEL-AML1 RQ-PCR can, in principle, replace Ig/TCR RQ-PCR in B-precursor ALL with t(12;21).. \"    ///    \"In these patients, sensitive reverse transcription (RT)-PCR analysis of the TEL-AML1 fusion transcript might be a more simple and less laborious alternative approach. \"    ///    We investigated whether the MRD results obtained using RT-PCR of TEL-AML1 transcripts correlated with the clinically validated genomic PCR for Ig and TCR gene rearrangements.     ///    \"In 34/36 bone marrow samples the Ig/TCR RQ-PCR and TEL-AML1 RQ-PCR revealed equal levels of MRD and these results had a strong correlation (P < 0.0001, R2 = 0.84). \"    ///    The TEL-AML1 real-time quantitative polymerase chain reaction (PCR) might replace the antigen receptor-based genomic PCR in clinical minimal residual disease studies in children with acute lymphoblastic leukaemia.. '), ('2238', 'MECOM_AML1', 't(3;21)(q26;q22) / ', 'MECOM', 'AML1', '17145882', '186', 'acute promyelocytic leukemia;myelodysplastic syndrome;leukemia;colon cancer;hematologic malignancy\r\r', '', '', 'Oncogene', '', '', '', '', '', 'We have previously shown that AML1/MDS1/EVI1 (AME), a fusion gene generated by a t(3;21)(q26;q22) translocation found in patients with chronic myelogenous leukemia during blast phase, myelodysplastic syndrome, or acute myelogenous leukemia (AML), impairs hematopoiesis and eventually induces an AML in mice.     ///    Targeted degradation of the AML1/MDS1/EVI1 oncoprotein by arsenic trioxide..     ///    \"Our results suggest that ATO could be used as a part of targeted therapy for AME-, AML1/MDS1-, MDS1/EVI1-, and EVI1-positive human cancers.. \"'), ('2239', 'CALM_AF10', 't(10;11)  / ', 'CALM', 'AF10', '20007546', '186', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The t(10;11) translocation results in a CALM-AF10 fusion gene in a subset of leukemia patients.     ///    \"A total of 91% (10 of 11) of mice with Zeb2 insertions developed B-lineage acute lymphoblastic leukemia, suggesting that Zeb2 activation promotes the transformation of CALM-AF10 hematopoietic precursors toward B-lineage leukemias. \"    ///    \"More than half of the mice with Zeb2 integrations also had Nf1 integrations, suggesting cooperativity among CALM-AF10, Zeb2, and Ras pathway mutations. \"    ///    \"We searched for Nras, Kras, and Ptpn11 point mutations in the CALM-AF10 leukemic mice. \"    ///    \"Three mutations were identified, all of which occurred in mice with Zeb2 integrations, consistent with the hypothesis that Zeb2 and Ras pathway activation promotes B-lineage leukemic transformation in concert with CALM-AF10.. \"    ///    \"Expression of a CALM-AF10 transgene results in leukemia, with prolonged latency and incomplete penetrance, suggesting that additional events are necessary for leukemic transformation. \"    ///    Retroviral insertional mutagenesis identifies Zeb2 activation as a novel leukemogenic collaborating event in CALM-AF10 transgenic mice..     ///    \"CALM-AF10 mice infected with the MOL4070LTR retrovirus developed acute leukemia, and ligation-mediated polymerase chain reaction was used to identify retroviral insertions at 19 common insertion sites, including Zeb2, Nf1, Mn1, Evi1, Ift57, Mpl, Plag1, Kras, Erg, Vav1, and Gata1. \"'), ('2240', 'FLI_EWS', 't(11;22)(q24;q12) / ', 'FLI', 'EWS', '7493136', '185', 'neuroectodermal tumor;ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'In view of this unexpected result, reverse transcriptase-polymerase chain reaction analysis was performed on both lesions and showed that they expressed EWS/FLI-1 fusion gene mRNA transcripts, the molecular equivalent of t(11;22)(q24;q12). '), ('2241', 'TEL_AML1', 't(12;21)(p13;q22) / t(12;21)  / ', 'TEL', 'AML1', '17622527', '184', '', '', '', '', '', '', '', '', '', 'The t(12;21) translocation leads to the expression of a novel fusion gene, TEL-AML1 (ETV6-RUNX1), and HeH often involves tri- and tetrasomy for chromosome 21.     ///    \"Based on our previous analysis of HLA-DP in childhood ALL, and evidence from in vitro studies that TEL-AML1 can activate HLA-DP-restricted T cell responses, we hypothesised that the development of TEL-AML1+ ALL might be influenced by the child\'s DPB1 genotype. \"'), ('2242', 'SET_NUP214', 'del(9)(q34) / ', 'SET', 'NUP214', '23114116', '184', 'T ALL\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', '', 'It is concluded that SET-NUP214 fusion gene is often resulted from del(9)(q34).     ///    [Expression of SET-NUP214 fusion gene in patients with T-cell acute lymphoblastic leukemia and its clinical significance]..     ///    RT-PCR was used to detect the expression of SET-NUP214 fusion gene in 58 T-ALL cases.     ///    \" This study was aimed to investigate the occurrence and clinical significance of the SET-NUP214 fusion gene in patients with T-cell acute lymphoblastic leukemia (T-ALL), analyse clinical and biological characteristics in this disease. \"    ///    The results showed that 6 out of 58 T-ALL cases (10.3%) were detected to have the SET-NUP214 fusion gene by RT-PCR.     ///    PHF6 and NOTCH1 mutations may be potential leukemogenic event in SET-NUP214 fusion gene..     ///    Array-CGH results of 3 SET-NUP214 positive T-ALL patients confirmed that this fusion gene was resulted from a cryptic deletion of 9q34.11q34.13.     ///    \"PHF6 and NOTCH1 gene mutations were found in 4 and 5 out of 6 SET-NUP214 positive T-ALL patients, respectively. \"'), ('2243', 'EWSR1_ETV4', 't(17;22)(q12;q12) / t(17;22)  / ', 'EWSR1', 'ETV4', '9858836', '182', 'ewing sarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', 'KB', 'Seq', 'In the present study, we determined the genomic breakpoint and characterized the chimeric transcript of the EWSR1-ETV4 fusion gene in two t(17;22) Ewing sarcomas.     ///    These observations suggest a mechanism of EWSR1-ETV4 gene fusion..     ///    The genomic breakpoint and chimeric transcripts in the EWSR1-ETV4/E1AF gene fusion in Ewing sarcoma..     ///    The discovery of this translocation suggested that there might be a novel EWSR1-ETV4 fusion gene. '), ('2244', 'BCR_ABL1', 't(9;22) / t(9;22)  / ', 'BCR', 'ABL1', '18613965', '181', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In this paper we identified a patient with a complex 4-way t(3;9;17;22) which, in addition to BCR/ABL1 gene fusion, also resulted in EVI1 rearrangement and overexpression.     ///    Expression levels of EVI1 and BCR/ABL1 were investigated using real-time quantitative RT-PCR. '), ('2245', 'TFE3_PRCC', 'p11.2;q21 / p11.2;q25 / ', 'TFE3', 'PRCC', '12459622', '180', 'renal cell carcinoma\r\r', '', '', '', '', '', '', 'KB', '', 'We report the morphologic, immunophenotypic, ultrastructural, and molecular features of 11 renal carcinomas bearing a t(X;1)(p11.2;q21) and/or the resulting PRCC-TFE3 gene fusion.     ///    \"PRCC-TFE3 renal carcinomas: morphologic, immunohistochemical, ultrastructural, and molecular analysis of an entity associated with the t(X;1)(p11.2;q21).. \"    ///    Both tumors tested contained PRCC-TFE3 fusion transcripts. '), ('2246', 'MYH11_CBFB', 'inv(16)  / ', 'MYH11', 'CBFB', '8818654', '179', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Identification of the chimeric protein product of the CBFB-MYH11 fusion gene in inv(16) leukemia cells..     ///    \"One isoform of the transcript of the CBFB-MYH11 fusion gene, containing the MHC204 C-terminus, was the predominant from in all five cases studied.. \"    ///    \"A very high molecular weight protein/DNA complex is generated when nuclear extracts from patient cells are used in electrophoretic mobility shift assays, as seen in NIH 3T3 cells transfected with the CBFB-MYH11 cDNA. \"    ///    We have previously shown that a CBFB-MYH11 cDNA construct can produce a chimeric protein and transform NIH 3T3 cells. '), ('2247', 'BCR_ABL1', 't(9;22)(q34;q11) / ', 'BCR', 'ABL1', '17696194', '179', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The expression of the chimeric BCR/ABL1 fusion gene resulting from t(9;22)(q34;q11) in chronic myelogenous leukemia (CML) is necessary for malignant transformation, but not sufficient to maintain disease progression. '), ('2248', 'ETO_AML1', 't(8;21) / ', 'ETO', 'AML1', '15902299', '179', '', '', '', '', '', '', '', '', '', 'Furthermore, the inducible expression of chromosome translocation t(8;21)-generated leukemogenic AML1-ETO fusion gene attenuated DFO-induced differentiation of U937 cells with the decrease of CCAAT/enhancer-binding protein alpha (C/EBP alpha), a critical factor for granulocytic differentiation. '), ('2249', 'BCR_ABL1', 't(9;22)(q34;q11) / ', 'BCR', 'ABL1', '24724051', '179', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The t(9;22)(q34;q11) or Philadelphia chromosome creates a BCR-ABL1 fusion gene encoding for a chimeric BCR-ABL1 protein.     ///    \"In parallel, the mechanistic understanding of Ph(+) ALL expanded exponentially through careful mapping of pathways downstream of BCR-ABL1, the discovery of mutations in master regulators of B-cell development such as IKZF1 (Ikaros), PAX5, and early B-cell factor (EBF), the recognition of the complex clonal architecture of Ph(+) ALL, and the delineation of genomic, epigenetic, and signaling abnormalities contributing to relapse and resistance. \"'), ('2250', 'ETO_AML1', 't(8;20)(q22;p13) / t(8;21)  / t(8;21) / t(8;20)  / ', 'ETO', 'AML1', '9332332', '179', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'RT-PCR revealed no AML1/ETO fusion transcript, but the wild-type ETO-3\' was expressed in the bone marrow cells suggesting that t(8;20) is a true simple variant translocation of t(8;21), and that a fusion gene consisting of ETO and an unidentified gene located in band 20p13 may exist in our case. '), ('2251', 'TAL1_SIL', 'del(11)(p12;p13) / ', 'TAL1', 'SIL', '21357790', '179', 'T ALL;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'In 22 patients with T-ALL who had late relapses (at least 2.5 years from diagnosis), we studied TCR gene rearrangement status at first and second presentation, NOTCH1 gene mutations, and the presence of the SIL-TAL1 gene fusion. '), ('2252', 'EWSR1_CREB1', 't(2;22)(q33;q12) / ', 'EWSR1', 'CREB1', '17724745', '177', 'clear cell sarcoma;fibrous histiocytoma;sarcoma;histiocytoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', 'KB', '', 'EWSR1-CREB1 is the predominant gene fusion in angiomatoid fibrous histiocytoma..     ///    \"We report for the first time the presence of EWSR1-CREB1 in AFH, which now appears to be the most frequent gene fusion in this tumor. \"    ///    EWSR1-CREB1 is a novel translocation recently described in clear cell sarcoma of the GI tract.     ///    \"By RT-PCR, eight out of nine tumors showed the presence of the EWSR1-CREB1 fusion, while one had an EWSR1-ATF1 transcript. \"    ///    \"By RT-PCR, eight out of nine tumors showed the presence of the EWSR1-CREB1 fusion, while one had an EWSR1-ATF1 transcript.\"    ///    All cases were subjected to RT-PCR for EWSR1-ATF1 and EWSR1-CREB1.     ///    Transcriptional profiling was performed in three tumors and their gene expression was compared to five clear cell sarcomas expressing either the EWSR1-ATF1 or EWSR1-CREB1 fusion.     ///    \"To address this, we investigated the presence of FUS-ATF1, EWSR1-ATF1, and the highly related EWSR1-CREB1 fusion in a group of nine AFHs. \"'), ('2253', 'KAT6B_KANSL1', 't(9;22)(q33;q12) / t(10;17)(q22;q21) / ', 'KAT6B', 'KANSL1', '25875009', '177', 'smooth muscle tumor\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'The present study, together with our previous finding of a retroperitoneal leiomyoma with t(10;17)(q22;q21) as the sole karyotypic aberration and a KAT6B-KANSL1 fusion gene, indicates that retroperitoneal leiomyomas may be characterized by fusion genes coding for chimeric proteins. '), ('2254', 'EML4_ALK', 'inv(2)(p21;p23) / ', 'EML4', 'ALK', '19170230', '176', 'adenosquamous carcinoma', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase (EML4-ALK) fusion gene resulting from the chromosome inversion inv(2)(p21;p23) recently was identified in nonsmall cell lung cancer (NSCLC).     ///    The EML4-ALK fusion gene is involved in various histologic types of lung cancers from nonsmokers with wild-type EGFR and KRAS..     ///    The EML4-ALK fusion gene was present in various histologic types of NSCLC.     ///    Thirteen tumors (4.9%) had EML4-ALK comprising 4 fusion transcript variants with fusion of the variable segments from 5\' EML4 to 3\' ALK and with preservation of the ALK kinase domain.     ///    \"EML4-ALK was investigated in 266 resected primary NSCLC, including adenocarcinomas (AD), lymphoepithelioma-like carcinomas, squamous cell carcinomas, mucoepidermoid carcinomas, and adenosquamous carcinomas, by reverse transcriptase-polymerase chain reaction and was verified by sequencing. \"    ///    EML4-ALK protein expression was studied by immunohistochemistry.     ///    \"The authors of this study investigated the frequency, genetic and clinicopathologic profiles of EML4-ALK in Chinese patients with NSCLC. \"    ///    The authors concluded that EML4-ALK may be useful for predicting the potential response to ALK inhibitors as a therapeutic option for patients with lung cancer..     ///    EML4-ALK was associated with nonsmokers (P = .009).     ///    \"EML4-ALK was investigated in 266 resected primary NSCLC, including adenocarcinomas (AD), lymphoepithelioma-like carcinomas, squamous cell carcinomas, mucoepidermoid carcinomas, and adenosquamous carcinomas, by reverse transcriptase-polymerase chain reaction and was verified by sequencing.\"'), ('2255', 'TEL_MN1', 't(12;22)  / ', 'TEL', 'MN1', '12569362', '176', 'acute myeloid leukemia;myeloid leukemia;leukemia;sarcoma\r\r', '', '', '', '', '', '', '', '', ' The t(12;22) creates an MN1-TEL fusion gene leading to acute myeloid leukemia. '), ('2256', 'NTRK3_ETV6', 't(12;15)(p13;q25) / ', 'NTRK3', 'ETV6', '9462753', '175', 'sarcoma\r\r', '', 'Kinase', '', '', '', '', 'KB', 'Seq', 'A novel ETV6-NTRK3 gene fusion in congenital fibrosarcoma..     ///    \"Moreover, ETV6-NTRK3 gene fusions provide a potential diagnostic marker for CFS.. \"    ///    ETV6-NTRK3 fusion transcripts encode the helix-loop-helix (HLH) protein dimerization domain of ETV6 fused to the protein tyrosine kinase (PTK) domain of NTRK3.     ///    Analysis of mRNA revealed the expression of ETV6-NTRK3 chimaeric transcripts in all three CFS tumours analysed. '), ('2257', 'MYH11_CBF', 'inv(16)(p13q22) / ', 'MYH11', 'CBF', '12481902', '175', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Molecular analysis of a new variant of the CBF beta-MYH11 gene fusion.. '), ('2258', 'BCR_ABL1', 'p13;q21 / ', 'BCR', 'ABL1', '21962896', '175', 'leukemia\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', '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. '), ('2259', 'MLLT3_MLL', 't(9;11)  / t(9;11) / ', 'MLLT3', 'MLL', '23772754', '174', '', '', '', 'Oncogene', '', '', '', '', 'Seq', 'The MLL-MLLT3 fusion transcript found in patients with AML harbouring t(9;11) is amenable to RT-qPCR quantification but because of the heterogeneity of translocation break points, the MLL-MLLT3 fusion gene is a challenging target.     ///    \"Using a locked nucleic acid probe, we developed a sensitive RT-qPCR assay for quantification of the most common break point region of the MLL-MLLT3 fusion gene. \"    ///    Five paediatric patients with t(9;11)-positive AML were monitored using the MLL-MLLT3 assay.     ///    We hypothesised that MRD monitoring using MLL-MLLT3 as a RT-qPCR marker is feasible in the majority of patients with t(9;11)-positive AML.     ///    A novel RT-qPCR assay for quantification of the MLL-MLLT3 fusion transcript in acute myeloid leukaemia..     ///    This MLL-MLLT3 RT-qPCR assay could be useful in MRD monitoring of a group of patients with AML who often lack reliable MRD markers.. '), ('2260', 'SYT_SSX', '', 'SYT', 'SSX', '11172303', '174', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'SYT-SSX gene fusion transcripts were detected in the SS tumor category only (100% specificity), including 100% of the biphasic SS and 86% of monophasic spindle/round cell SS.     ///    \"Using RT-PCR, we examined 250 mesenchymal and nonmesenchymal, benign and malignant, paraffin-embedded lesions for the SS t(X;18) (SYT-SSX) translocation. \"    ///    Nine tumors originally diagnosed as SS were t(X;18) (SYT-SSX)-negative.     ///    \"This study shows that the detection of the SS t(X;18) (SYT-SSX) in paraffin-embedded tissue is feasible with a 100% specificity and an overall 96% sensitivity, provided non-Bouin\'s fluid fixation is used.. \"'), ('2261', 'PCM1_JAK2', 't(8;9)(p22;p24) / / ', 'PCM1', 'JAK2', '23400675', '172', 'hematologic malignancy\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Hematologic malignancies with PCM1-JAK2 gene fusion share characteristics with myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1.    ///    \"Hematologic malignancies with PCM1-JAK2 gene fusion share characteristics with myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1.. \"    ///    \"Our data suggests the integration of cases with JAK2-PCM1 fusion in the respective WHO category of myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1.. \"    ///    We here now report on 6 new cases with PCM1-JAK2 fusion. '), ('2262', 'FLI1_EWS', '', 'FLI1', 'EWS', '17154184', '171', 'ewing sarcoma;rhabdomyosarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'RT-PCR confirmed that SK-NEP-1 expresses EWS-FLI1 gene fusion transcripts characteristic of Ewing sarcoma, and DNA sequencing demonstrated the joining of exon 7 of EWS with exon 5 of FLI1 for these transcripts.     ///    \"Rh1, which was previously categorized as an alveolar rhabdomyosarcoma cell line, also has a gene expression profile suggestive of Ewing sarcoma and expresses EWS-FLI1 fusion transcripts in which exon 7 of EWS is joined with exon 6 of FLI1. \"'), ('2263', 'TFE3_PRCC', 'p11.2;q23 / ', 'TFE3', 'PRCC', '12917640', '171', 'anaplastic large cell lymphoma;adenocarcinoma;lymphoma\r\r', '', '', '', '', '', '', 'KB', '', '2 translocations and resulting TFE3 gene fusions (PRCC-TFE3, PSF-TFE3, NONO-TFE3, ASPL-TFE3), encoding related aberrant transcription factors.     ///    \"The present renal tumor demonstrated morphologic and immunohistochemical features of both PRCC-TFE3 and ASPL-TFE3 carcinomas, including strong nuclear immunoreactivity for the TFE3 C-terminal and only minimal expression of epithelial proteins. \"'), ('2264', 'NTRK3_ETV6', '', 'NTRK3', 'ETV6', '11441343', '171', 'nephroma\r\r', 'PCR;RT-PCR', 'Kinase', '', '', '', '', 'KB', 'Seq', 'MCH-MN-1 cells expressed ETV6-NTRK3 gene fusion transcripts, characteristic of cellular and mixed forms of CMNs. '), ('2265', 'TFE3_PSF', 'p11.2;q23 / ', 'TFE3', 'PSF', '12917640', '171', 'anaplastic large cell lymphoma;adenocarcinoma;lymphoma\r\r', '', '', '', '', '', '', '', '', '2 translocations and resulting TFE3 gene fusions (PRCC-TFE3, PSF-TFE3, NONO-TFE3, ASPL-TFE3), encoding related aberrant transcription factors. '), ('2266', 'EWS_CHN', 't(9;22) (q22;q12) / ', 'EWS', 'CHN', '9060841', '171', 'chondrosarcoma', '', '', '', '', '', '', '', '', 'We studied 46 cases of CS (8 extraskeletal myxoid, 4 skeletal myxoid, 4 mesenchymal, and 30 other) for the EWS/CHN gene fusion by reverse transcriptase polymerase chain reaction, Southern blotting, and long-range DNA polymerase chain reaction.     ///    \"The EWS/CHN gene fusion was present in 6 of 8 extraskeletal myxoid CSs and was not detected in any of the remaining cases, including the 4 skeletal myxoid CSs. \"    ///    \"Notably, 2 cases of extraskeletal myxoid CS showed neither an EWS/CHN fusion transcript nor EWS/CHN genomic fusion nor EWS or CHN genomic rearrangement, suggesting genetic heterogeneity within extraskeletal myxoid CS. \"'), ('2267', 'SYT_SSX', '', 'SYT', 'SSX', '20109354', '171', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Molecular analysis was performed on 2 cases to demonstrate the presence of the SYT-SSX gene fusion transcripts by reverse transcriptase polymerase chain reaction (RT-PCR).     ///    \"Primary renal synovial sarcoma is rare, with poor prognosis, characterized by SYT-SSX gene fusion, and needs to be differentiated from other renal sarcomas.. \"'), ('2268', 'MAML2_CRTC1', '', 'MAML2', 'CRTC1', '22323114', '170', 'mucoepidermoid carcinoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', '            Using RT-PCR and FISH we demonstrated that the tumor was positive for the CRTC1-MAML2             gene fusion previously shown to be associated with in particular low-grade salivary             MECs with favorable prognosis.     ///    CRTC1-MAML2 gene fusion in mucoepidermoid carcinoma of the lacrimal             gland..     ///    \"Moreover, our findings indicate that the CRTC1-MAML2 fusion             may be a useful diagnostic and prognostic biomarker for lacrimal MEC.. \"    ///    \"By immunohistochemistry we showed that the majority of tumor cells, including epidermoid, intermediate and mucous producing cells, expressed the CRTC1-MAML2 fusion protein.\"    ///    \"By immunohistochemistry we showed that the majority             of tumor cells, including epidermoid, intermediate and mucous producing cells,             expressed the CRTC1-MAML2 fusion protein. \"'), ('2269', 'SYT_SSX', '', 'SYT', 'SSX', '20126590', '170', 'synovial sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'SYT-SSX gene fusion, characteristic for synovial sarcoma, was identified in this case by FISH and RT-PCR assays.. '), ('2270', 'TFE3_PSF', '', 'TFE3', 'PSF', '23628822', '169', 'renal cell carcinoma\r\r', '', '', '', '', '', '', '', '', 'Reverse transcription polymerase chain reaction and Sanger sequencing confirmed the previously reported PSF-TFE3 gene fusion between exon 9 of PSF and exon 6 of TFE3 in the UOK 145 cell line and in one of 2 clinical cases of Xp11.2 RCC.     ///    A novel PSF-TFE3 gene fusion between exon 9 of PSF and exon 5 of TFE3 was detected in the second clinical case of Xp11.2 RCC..     ///    UOK 145 cells and fresh frozen tissue from 2 clinical cases of Xp11.2 RCC found to harbor the PSF-TFE3 gene rearrangement (by cytogenetic testing) were collected.     ///    Xp11.2 translocation renal cell carcinoma with PSF-TFE3 rearrangement..     ///    \"However, exclusive cytoplasmic localization of a TFE3 fusion protein was reported in UOK 145 cells, a cell line derived from an Xp11.2 RCC harboring the PSF-TFE3 translocation. \"'), ('2271', 'SYT_SSX', '', 'SYT', 'SSX', '15679430', '169', 'synovial sarcoma;renal cell carcinoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Most previous cases of primary renal synovial sarcoma were confirmed by molecular biology techniques, which detected the SYT-SSX gene fusion transcript typical of this tumor, but no details of the other chromosomal anomalies have been published. '), ('2272', 'BCL2_IGH', 't(14;18)  / t(14;18) / ', 'BCL2', 'IGH', '9836076', '167', 'non Hodgkin lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' The t(14;18) translocation and its molecular counterpart, the bcl-2/IgH gene rearrangement, are highly characteristic of follicular non-Hodgkin lymphomas. '), ('2273', 'TEL_AML1', 't(12;21) / t(12;21)  / ', 'TEL', 'AML1', '12433682', '167', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' The (12;21) translocation resulting in TEL/AML1 gene fusion is present in about 25% of childhood precursor B-lineage acute lymphoblastic leukemia (ALL) and is associated with a good prognosis and a high cellular sensitivity to L-asparaginase (L-Asp). '), ('2274', 'TORC1_MAML2', '', 'TORC1', 'MAML2', '20625861', '166', 'mucoepidermoid carcinoma\r\r', '', '', '', '', '', '', '', '', 'We report an example of intraosseous mucoepidermoid carcinoma with positive TORC1/MAML2 gene fusion transcript and discuss the clinical implications..     ///    \"Central mucoepidermoid carcinoma, a case report with molecular analysis of the TORC1/MAML2 gene fusion.. \"'), ('2275', 'TEL_AML1', '', 'TEL', 'AML1', '19440970', '166', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'We analyzed 88 pediatric patients (median age 7.3 years) who had B-lineage acute lymphoblastic leukemia (B-ALL), using reverse transcriptase-polymerase chain reaction, to look for gene fusion transcripts of TEL/AML1, E2A/PBX1, BCR/ABL p190, and MLL/AF4.     ///    \"The low frequency of the TEL/AML1 transcript that is found in developing countries, such as Brazil, may be due to the low incidence of leukemia. \"'), ('2276', 'NPM_ALK', 't(2;5)  / ', 'NPM', 'ALK', '9547986', '166', 'anaplastic large cell lymphoma;sarcoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The NPM/ALK gene fusion in the pathogenesis of anaplastic large cell lymphoma..     ///     The cloning of the t(2;5) translocation breakpoints and the identification of the NPM/ALK fusion in Ki-1 ALCL have brought forth from this heterogeneous morphological grouping a subset of cases defined by an aetiological genetic alteration.     ///    Systems developed to inhibit other fusion transcripts and oncogenic tyrosine kinases can now be applied to NPM/ALK positive lymphomas.     ///    \"Such novel approaches could target NPM/ALK at the level of the genomic sequence, transcript, protein or its downstream targets, when the latter are further elucidated. \"    ///    It has also confirmed that HD is pathogenetically unrelated to NPM/ALK positive Ki-1 ALCL.     ///    The analysis of NPM/ALK positive lymphomas as a single clinicopathological entity has already begun to clarify and explain some previous clinical observations in Ki-1 ALCL.     ///    \"Although much work remains to be done on the mechanism of NPM/ALK lymphomagenesis, rational treatment approaches are now within reach. \"'), ('2277', 'SYT_SSX', '', 'SYT', 'SSX', '12647350', '166', 'oncocytoma;papillary adenoma;renal cell carcinoma;sarcomatoid renal cell carcinoma', '', '', '', '', '', '', '', '', 'Detection of SYT-SSX gene fusion transcripts resulting from the t(X;18) and the EWS-FLI-1 gene fusion are described as molecular tests for the diagnosis of renal synovial sarcomas and renal primitive neuroectodermal tumors. '), ('2278', 'CCNB3_BCOR', '', 'CCNB3', 'BCOR', '25176412', '166', 'sarcoma\r\r', '', '', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', ' This retrospective multicenter study assessed the clinical, radiological and pathological presentation, treatment and outcome of 26 patients with Ewing-like sarcoma harboring BCOR-CCNB3 gene fusion transcript.     ///    \"Ewing-like sarcomas with BCOR-CCNB3 fusion transcript: a clinical, radiological and pathological retrospective study from the Soci?t? Fran?aise des Cancers de L\'Enfant.. \"    ///    \"BCOR-CCNB3 transcript-positive Ewing-like sarcoma diagnosis should be discussed for a transcript-negative small round cell sarcoma in a child, adolescent or young adult patient. \"    ///    Eligibility criteria included assessment of a BCOR-CCNB3 transcript-positive tumor after molecular analysis and availability of minimal clinical and pathological data. '), ('2279', 'HMGA2_EFCAB6', 't(12;22) / ', 'HMGA2', 'EFCAB6', '22749035', '166', '', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Identification of a HMGA2-EFCAB6 gene rearrangement following next-generation sequencing in a patient with a t(12;22)(q14.3;q13.2) and JAK2V617F-positive myeloproliferative neoplasm..     ///    \"Allele burden comparison in a sample containing the translocation, showed 90% HMGA2-EFCAB6 versus 50% JAK2V617F allele dose, suggesting HMGA2-EFCAB6 rearrangement plays a more ancestral role, pre-JAK2V617F, in the neoplastic process. \"    ///    Next-generation sequencing revealed a balanced HMGA2-EFCAB6 genomic rearrangement. '), ('2280', 'TEL_AML1', '', 'TEL', 'AML1', '10463610', '165', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', ' TEL-AML1 gene fusion derived by chromosomal translocation is a common acquired genetic lesion in pediatric cancer that is present in approximately 25% of B-cell precursor acute lymphoblastic leukemias, and recent evidence suggests that this recombination event may initiate leukemogenesis prenatally during fetal hemopoiesis.     ///    Structure and possible mechanisms of TEL-AML1 gene fusions in childhood acute lymphoblastic leukemia..     ///    \"The data are compatible with the possibility that TEL-AML1 translocations occur by nonhomologous recombination involving imprecise, constitutive repair processes following DNA double-strand breaks.. \"    ///    A long-distance inverse PCR strategy was used to amplify TEL-AML1 genomic fusion sequences from diagnostic DNA from nine patients. '), ('2281', 'ETO_AML1', 't(8;21)(q22;q22) / t(8;21)  / ', 'ETO', 'AML1', '21262832', '165', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The full-length AML1-ETO (AE) fusion gene resulting from t(8;21)(q22;q22) in human acute myeloid leukemia (AML) is not sufficient to induce leukemia in animals, suggesting that additional mutations are required for leukemogenesis.     ///    C-KIT mutation cooperates with full-length AML1-ETO to induce acute myeloid leukemia in mice.. '), ('2282', 'TEL_AML1', '', 'TEL', 'AML1', '16059922', '165', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Chromosomal translocations involving the MLL gene at 11q23 are a common feature of infant acute leukemia, found in up to 80% of all cases, and there is strong evidence that rearrangements involving the MLL gene or the TEL-AML1 gene fusion can originate in utero. '), ('2283', 'TEL_AML1', 'p12;q24 / t(12;21)(p13;q22) / t(2;8)(p12;q24) / t(12;21)(p12;q22) / t(12;21)(p13;22) / ', 'TEL', 'AML1', '11106815', '165', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Translocation (2;8)(p12;q24) associated with a cryptic t(12;21)(p13;q22) TEL/AML1 gene rearrangement in a child with acute lymphoblastic leukemia.. '), ('2284', 'STAT6_NAB2', '', 'STAT6', 'NAB2', '26811389', '165', 'solitary fibrous tumor;sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'However, it is now recognized that SFT is a translocation-associated neoplasm, consistently associated with NAB2-STAT6 gene fusions arising from recurrent intrachromosomal rearrangements on chromosome 12q, and this translocation is a likely major contributor to its pathogenesis. '), ('2285', 'TAX1BP1_AHCY', '', 'TAX1BP1', 'AHCY', '18084325', '165', 'breast cancer\r\r', '', '', '', '', '', '', '', '', 'Two gene fusions were demonstrated, TAX1BP1-AHCY and RIF1-PKD1L1. '), ('2286', 'ALL1_AF4', 't(4;11) / t(9;11) / t(6;11) / t(11;19) / t(1;11)  / t(10;11) / t(11;16) / t(11;17)  / t(4;11)  / ', 'ALL1', 'AF4', '9592986', '165', 'leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'As concerning studies on minimal residual disease, data on PCR monitoring of the ALL1/AF4 fusion transcript, resulting from the t(4;11) translocation, show the clinical relevance of this molecular test in predicting outcome and, as a consequence, in designing individual post-remission therapies. '), ('2287', 'NUP98_NSD1', 't(5;11) / t(7;11)(p15;p15) / t(6;11)(q27;q23) / t(6;9)(p22;q34) / ', 'NUP98', 'NSD1', '23630019', '164', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Furthermore, another type of NUP98-NSD1 fusion transcript was identified by additional RT-PCR analyses using other primers in a NUP98-NSD1-like patient, revealing the significance of this signature to detect NUP98-NSD1 gene fusions and to identify a new poor prognostic subgroup in AML..     ///    NUP98-NSD1 gene fusion and its related gene expression signature are strongly associated with a poor prognosis in pediatric acute myeloid leukemia..     ///    NUP98-NSD1 fusion transcripts were detected in 6 (4.8%) of 124 pediatric AML patients. '), ('2288', 'SOX5_HMGA2', 'inv(12) / inv(12)  / ', 'SOX5', 'HMGA2', '26043835', '164', 'connective tissue neoplasms', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Rearrangement of chromosome bands 12q14~15 causing HMGA2-SOX5 gene fusion and HMGA2 expression in extraskeletal osteochondroma..     ///    \"In the second tumor, the inv(12) detected by karyotyping had resulted in an HMGA2-SOX5 fusion transcript in which exons 1-3 of HMGA2 were fused with a sequence from intron 1 of SOX5. \"'), ('2289', 'SYT_SSX1', '', 'SYT', 'SSX1', '20714127', '163', 'thoracic neoplasms', '', '', '', '', '', '', '', '', 'Pathology and immunohistochemistry was diagnostic of primary pulmonary synovial sarcoma positive for SYT-SSX1 gene fusion transcription.. '), ('2290', 'MECOM_AML1', 't(3;21) / t(3;3)(q21;q26) / inv(3)(q21q26) / t(3;21)(q26;q22) / ', 'MECOM', 'AML1', '10086725', '163', 'myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', '', '', 'The rearrangements lead either to gene truncation, and to expression of the transcription repressor EVI1, as seen in the t(3;3)(q21;q26) and inv(3)(q21q26), or to gene fusion, as seen in the t(3;21)(q26;q22) which results in the fusion protein AML1/MDS1/EVI1.     ///    \"MDS1/EVI1 enhances TGF-beta1 signaling and strengthens its growth-inhibitory effect but the leukemia-associated fusion protein AML1/MDS1/EVI1, product of the t(3;21), abrogates growth-inhibition in response to TGF-beta1.. \"    ///    \"We show that whereas the expression of MDS1/EVI1 has no effect on granulocytic differentiation induced by G-CSF, expression of AML1/MDS1/EVI1 blocks differentiation resulting in cell death. \"    ///    \"By using the yeast two-hybrid system, we also show that EVI1 (contained in its entirety in MDS1/EVI1 and AML1/MDS1/EVI1) physically interacts with SMAD3, which is an intracellular mediator of TGF-beta1 signaling. \"    ///    \"In this report, we have analyzed the response of the hematopoietic precursor cell line 32Dcl3, expressing either the normal protein MDS1/EVI1 or the fusion protein AML1/MDS1/EVI1, to factors that control cell differentiation or cell replication. \"    ///    \"Furthermore, we show that whereas the expression of the fusion protein AML1/MDS1/EVI1 completely abrogates the growth-inhibitory effect of TGF-beta1 and allows 32Dcl3 cells to proliferate, expression of the normal protein MDS1/EVI1 has the opposite effect, and it strengthens the response of cells to the growth-inhibitory effect of TGF-beta1. \"'), ('2291', 'NUP98_HOXA13', 't(7;11)(p15;p15) / t(7;11) / ', 'NUP98', 'HOXA13', '24971156', '162', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', '', 'KB', '', 'Up-regulation of both genes emerged only in the presence of NUP98/HOXA13 gene fusion.     ///    Blast crisis Ph+ chronic myeloid leukemia with NUP98/HOXA13 up-regulating MSI2..     ///    \"To the best of our knowledge, this is the first molecular characterization of NUP98/HOXA13 fusion in blast crisis of Ph?+?CML. \"    ///    To determine the mechanisms underlying MSI2 over-expression in our patient we performed Chromatin Immunoprecipitation and found that NUP98/HOXA13 fusion protein deregulates MSI2 gene by binding its promoter. '), ('2292', 'NCOA2_AHRR', 't(5;8)  / ', 'NCOA2', 'AHRR', '24557164', '162', 'angiofibroma', '', '', '', '', '', 'Transcription_Factor', '', '', 'It is also cytogenetically characterised by t(5;8) translocation and AHRR-NCOA2 gene rearrangement. '), ('2293', 'NPM_ALK', '', 'NPM', 'ALK', '8616079', '161', 'malignant histiocytosis', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'NPM/ALK gene fusion transcripts identify a distinct subgroup of null type Ki-1 positive anaplastic large cell lymphomas..     ///    \"The specific translocation was found exclusively in six childhood tumours previously diagnosed as malignant histiocytosis (MH), whereas all adult lymphomas (three ALCL without characteristics of MH, three secondary ALCL following HD) and two paediatric cases of secondary ALCL following HD did not show NPM/ALK gene fusion products. \"    ///    Our data indicate a high association of previously diagnosed MH and NPM/ALK gene rearrangements.     ///    \"We performed NPM/ALK RT-PCR on 14 cases of ALCL expressing distinct myelomonocytic markers, e.g. \"'), ('2294', 'MLLT1_MLL', 't(11;19) / t(11;19)(q23;p13) / ', 'MLLT1', 'MLL', '21239865', '161', 'brain ischemia;T cell leukemia', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'Here, we report a case of t-ALL with t(11;19)(q23;p13.3) and MLL-MLLT1 (alias ENL) gene rearrangement confirmed by cytogenetic analysis, multiplex reverse transcription-PCR (multiplex RT-PCR), and DNA sequencing in a patient who had undergone treatment for breast cancer.     ///    A case of therapy-related acute lymphoblastic leukemia with t(11;19)(q23;p13.3) and MLL/MLLT1 gene rearrangement..     ///    \"To our knowledge, this is the first case report of t-ALL with t(11;19)(q23;p13.3) and the MLL-MLLT1 gene rearrangement.. \"    ///    \"FISH analyses, multiplex RT-PCR, and DNA sequencing confirmed the MLL-MLLT1 gene rearrangement. \"'), ('2295', 'TFE3_ASPL', '', 'TFE3', 'ASPL', '24681737', '161', 'alveolar soft part sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'A reciprocal translocation for ASPL-TFE3 gene fusion, frequently detected in ~90% of cases, combined with TFE3 protein immunoexpression are highly sensitive and specific methods for diagnostic confirmation.     ///    The current report describes a unique case of vulvovaginal alveolar soft part sarcoma showing the classic morphologic features with documentation of TFE3 protein expression and the ASPL-TFE3 gene rearrangement.     ///    ASPL-TFE3 translocation in vulvovaginal alveolar soft part sarcoma.. '), ('2296', 'SQSTM1_ALK', '', 'SQSTM1', 'ALK', '25413595', '161', 'histiocytoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Epithelioid cell histiocytoma of the skin with clonal ALK gene rearrangement resulting in VCL-ALK and SQSTM1-ALK gene fusions.. '), ('2297', 'RET_FGFR1OP', '', 'RET', 'FGFR1OP', '24315414', '161', 'acute myeloid leukemia;myeloproliferative disorder;myeloid leukemia;leukemia;hematopoietic malignan\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'We report the molecular cloning and functional characterization of a novel FGFR1OP (exon 11)-RET (exon 11) gene fusion event (named FGFR1OP-RET), mediated by a reciprocal translocation t(6.     ///    Functional characterization of a novel FGFR1OP-RET rearrangement in hematopoietic malignancies..     ///    \"In vivo, FGFR1OP-RET caused a spectrum of disease phenotypes, with >50% of mice showing a fatal myeloproliferative disorder (MPD). \"    ///    \"FGFR1OP-RET supported cytokine-independent growth, protection from stress and enhanced self-renewal of primary murine hematopoietic progenitor and stem cells in vitro. \"    ///    \"The FGFR1OP-RET fusion protein displayed constitutive tyrosine kinase and transforming activity in NIH3T3 fibroblasts, and induced IL3-independent growth and activation of PI3K/STAT signaling in hematopoietic Ba/F3 cells. \"    ///    \"In conclusion, FGFR1OP-RET chimeric oncogenes are endowed with leukemogenic potential and associated to myeloid neoplasms (CMML and PMF/AML).. \"'), ('2298', 'FLI1_EWSR1', '', 'FLI1', 'EWSR1', '24498265', '161', 'ewing sarcoma', 'PCR;RT-PCR', '', '', '', '', '', '', 'Seq', 'We determined that MSC-P lack the most prevalent gene fusion, EWSR1-FLI1 as well as EWSR1 gene rearrangements. '), ('2299', 'EWSR1_CREB1', '', 'EWSR1', 'CREB1', '26163185', '161', 'clear cell sarcoma', '', '', '', '', '', 'Transcription_Factor', 'KB', '', 'EWSR1 gene rearrangements including EWSR1-ATF1 or EWSR1-CREB1 GENE fusions are typically assessed in these tumors. '), ('2300', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '9288109', '160', '', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'In more than 99% of cases, this disruption results in the formation of a PML-RARA gene fusion. '), ('2301', 'FUS_DDIT3', 't(12;16)(q13;p11) / / ', 'FUS', 'DDIT3', '17468515', '160', 'liposarcoma;sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'The application of transgenic methods and the use of primary mesenchymal progenitor cells to the study of this sarcoma-associated FUS-DDIT3 gene fusion have provided insights into their in vivo functions and suggested mechanisms by which lineage selection may be achieved.'), ('2302', 'MYB_NFIB', 't(6;9)(q22-23;p23-24) / / ', 'MYB', 'NFIB', '21572406', '160', 'adenoid cystic carcinoma', 'PCR;RT-PCR', '', '', '', '', '', 'KB', 'Seq', 'Analysis of MYB expression and MYB-NFIB gene fusions in adenoid cystic carcinoma and other salivary neoplasms.    ///    Analysis of MYB expression and MYB-NFIB gene fusions in adenoid cystic carcinoma and other salivary neoplasms..     ///    \"MYB-NFIB fusion transcript was detected in 25 of 29 (86%) frozen adenoid cystic carcinoma tumor samples, and in 14 of 32 (44%) formalin-fixed paraffin-embedded adenoid cystic carcinoma tumor specimens.\"    ///    \"To determine the frequency of this finding, we used RT-PCR assays of the MYB and MYB-NFIB fusion transcripts, and immunohistochemistry for the MYB protein, to study adenoid cystic carcinomas and other epithelial tumors of the salivary glands, and head and neck region.\"    ///    \"To determine the frequency of this finding, we used RT-PCR assays of the MYB and MYB-NFIB fusion transcripts, and immunohistochemistry for the MYB protein, to study adenoid cystic carcinomas and other epithelial tumors of the salivary glands, and head and neck region. \"    ///    \"MYB-NFIB fusion transcript was detected in 25 of 29 (86%) frozen adenoid cystic carcinoma tumor samples, and in 14 of 32 (44%) formalin-fixed paraffin-embedded adenoid cystic carcinoma tumor specimens. \"    ///    \"In contrast, the MYB-NFIB fusion was not expressed in non-adenoid cystic carcinoma neoplasms of the head and neck, confirming the high specificity of the MYB-NFIB fusion. \"'), ('2303', 'WAMTP1_MAML2', 't(11;19)(q21-22;p13) / ', 'WAMTP1', 'MAML2', '14720503', '160', 'mucoepidermoid carcinoma\r\r', '', '', '', '', '', '', '', '', 'Altered Notch signaling resulting from expression of a WAMTP1-MAML2 gene fusion in mucoepidermoid carcinomas and benign Warthin\'s tumors..     ///    Mutation analysis of the N-terminus of WAMTP1-MAML2 identified two regions of importance for nuclear localization (amino acids 11-20) and for colocalization with MAML2 and Notch1 ICD in nuclear granules (amino acids 21-42).     ///    Analyses of the Notch target genes HES5 and MASH1 in MEC tumors with and without the WAMTP1-MAML2 fusion revealed upregulation of HES5 and downregulation of MASH1 in fusion positive MECs compared to normal salivary gland tissue and MECs lacking the fusion. '), ('2304', 'SYT_SSX1', 'p11;q11 / ', 'SYT', 'SSX1', '12469233', '160', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Real-time PCR is useful in detecting and distinguishing SYT-SSX1 from SYT-SSX2 gene fusions in synovial sarcoma.     ///    All of the poorly differentiated tumors and seven out of eight tumors from patients who developed lung metastases had an SYT-SSX1 fusion transcript.     ///    This study was designed to evaluate the utility of a real-time reverse transcriptase-polymerase chain reaction (RT-PCR) assay to detect and distinguish SYT-SSX1 and SYT-SSX2 fusions in fresh and archival specimens of synovial sarcoma in pediatric patients seen at St.     ///    Real-time polymerase chain reaction as an aid for the detection of SYT-SSX1 and SYT-SSX2 transcripts in fresh and archival pediatric synovial sarcoma specimens: report of 25 cases from St.     ///    SYT-SSX1 transcripts were found in 18/24 (75%) of the tumors while SYT-SSX2 transcripts were identified in 3/24 (12.5%).     ///    Positive results for either SYT-SSX1 or SYT-SSX2 were obtained in 21/25 (84%) cases.     ///    \"In addition, the clinicopathologic features of the tumors with SYT-SSX1 vs. \"    ///    \"In addition, distinguishing SYT-SSX1 from SYT-SSX2 fusions with these methods allow for prospective collection of information that may clarify issues of prognostic relevance.. \"'), ('2305', 'FUS_DDIT3', 't(12;16)(q13;p11) / ', 'FUS', 'DDIT3', '15826835', '160', 'liposarcoma;sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'The application of transgenic methods to the study of this sarcoma-associated FUS-DDIT3 gene fusion has provided insights into their functions in vivo, and suggested mechanisms by which lineage selection may be achieved..     ///    Understanding mesenchymal cancer: the liposarcoma-associated FUS-DDIT3 fusion gene as a model..     ///    FUS-DDIT3 is a chimeric oncogene generated by the most common chromosomal translocation t(12;16)(q13;p11) associated with liposarcomas.     ///    \"Here these studies are reviewed, using FUS-DDIT3 as a model to illustrate how they have contributed to current understanding in unique and unexpected ways. \"'), ('2306', 'SYT_SSX1', '', 'SYT', 'SSX1', '16157200', '160', 'epithelioid sarcoma', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'The SYT-SSX1 gene fusion was identified in a small proportion of tumoral cells.     ///    \"We report, to our knowledge, the first epithelioid sarcoma in which the presence of SYT-SSX1 fusion gene has been detected by means of conventional RT-PCR analysis and sequencing, real-time RT-PCR and FISH. \"    ///    Epithelioid sarcoma with SYT-SSX1 fusion gene expression: molecular and cytogenetic analysis.. '), ('2307', 'SYT_SSX2', 'p11;q11 / ', 'SYT', 'SSX2', '12469233', '160', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Real-time PCR is useful in detecting and distinguishing SYT-SSX1 from SYT-SSX2 gene fusions in synovial sarcoma.     ///    This study was designed to evaluate the utility of a real-time reverse transcriptase-polymerase chain reaction (RT-PCR) assay to detect and distinguish SYT-SSX1 and SYT-SSX2 fusions in fresh and archival specimens of synovial sarcoma in pediatric patients seen at St.     ///    SYT-SSX1 transcripts were found in 18/24 (75%) of the tumors while SYT-SSX2 transcripts were identified in 3/24 (12.5%).     ///    Real-time polymerase chain reaction as an aid for the detection of SYT-SSX1 and SYT-SSX2 transcripts in fresh and archival pediatric synovial sarcoma specimens: report of 25 cases from St.     ///    Positive results for either SYT-SSX1 or SYT-SSX2 were obtained in 21/25 (84%) cases.     ///    \"In addition, distinguishing SYT-SSX1 from SYT-SSX2 fusions with these methods allow for prospective collection of information that may clarify issues of prognostic relevance.. \"    ///    SYT-SSX2 fusions were compared. '), ('2308', 'SLC1A2_CD44', '', 'SLC1A2', 'CD44', '21471434', '160', 'gastric cancer\r\r', '', '', '', '', '', '', '', '', 'In primary tumors, CD44-SLC1A2 gene fusions were detected in 1 to 2% of gastric cancers, but not in adjacent matched normal gastric tissues.     ///    CD44-SLC1A2 gene fusions in gastric cancer..     ///    CD44-SLC1A2 may represent a class of gene fusions in cancers that establish a pro-oncogenic metabolic milieu favoring tumor growth and survival..     ///    \"Analysis of a breakpoint-positive SNU16 cell line revealed expression of a CD44-SLC1A2 fusion transcript caused by a paracentric chromosomal inversion, which was predicted to produce a truncated but functional SLC1A2 protein. \"    ///    \"Conversely, CD44-SLC1A2 overexpression in gastric cells stimulated these pro-oncogenic traits. \"    ///    \"CD44-SLC1A2 silencing caused significant reductions in intracellular glutamate concentrations and sensitized SNU16 cells to cisplatin, a commonly used chemotherapeutic agent in gastric cancer. \"    ///    \"When we specifically silenced CD44-SLC1A2, cellular proliferation, invasion, and anchorage-independent growth were significantly reduced. \"'), ('2309', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '11378661', '160', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Immediate identification of t(15;17) or the PML/RARA gene rearrangement is fundamental for treatment.     ///    \"When the three tests were compared at diagnosis, karyotyping presented the translocation in 80% of the tested samples while FISH and RT-PCR showed the PML/RARA rearrangement in 100% of them. \"'), ('2310', 'FOXO4_CIC', 't(4;19) / t(10;19) / t(4;19)  / t(10;19)  / ', 'FOXO4', 'CIC', '25683183', '160', 'sarcoma\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', ' A subset of undifferentiated small round cell sarcomas (USRCSs) is currently being recognized as emerging entities with unique gene fusions: CIC-DUX4 (the area of focus in this article), BCOR-CCNB3, or CIC-FOXO4 gene fusions.     ///    \"CIC-DUX4 and CIC-FOXO4 fusions have been reported in soft tissue tumors, while BCOR-CCNB3 fusion with an X chromosomal inversion was described in both bone and soft tissue tumors. \"'), ('2311', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23708657', '160', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Recently, the TMPRSS2:ERG gene fusion, which results in the aberrant expression of the transcription factor ERG, has been shown to be the most common gene rearrangement in PCa.     ///    \"In this study on TMPRSS2:ERG regulation in PCa, we used an androgen receptor and TMPRSS2:ERG fusion double-negative PCa cell model: PC3c. \"    ///    \"In three cell clones with different TMPRSS2:ERG expression levels, ectopic expression of the fusion resulted in significant induction of cell migration and invasion in a dose-dependent manner. \"    ///    \"In agreement with this phenotype, high-throughput microarray analysis revealed that a set of genes, functionally associated with cell motility and invasiveness, were deregulated in a dose-dependent manner in TMPRSS2:ERG-expressing cells. \"    ///    \"In line with these findings, there was evidence that TMPRSS2:ERG directly and positively regulates MMP9 and PLXNA2 expression in PC3c cells. \"    ///    \"Moreover, PLXNA2 upregulation contributed to TMPRSS2:ERG-mediated enhancements of PC3c cell migration and invasion. \"    ///    Identification of novel TMPRSS2:ERG mechanisms in prostate cancer metastasis: involvement of MMP9 and PLXNA2..     ///    \"Importantly, we identified increased MMP9 (Metalloproteinase 9) and PLXNA2 (Plexin A2) expression in TMPRSS2:ERG-positive PCa samples, and their expression levels were significantly correlated with ERG expression in a PCa cohort. \"'), ('2312', 'DUX4_CIC', 't(4;19) / t(10;19) / t(4;19)  / t(10;19)  / ', 'DUX4', 'CIC', '25683183', '160', 'sarcoma\r\r', '', '', '', '', '', '', '', '', ' A subset of undifferentiated small round cell sarcomas (USRCSs) is currently being recognized as emerging entities with unique gene fusions: CIC-DUX4 (the area of focus in this article), BCOR-CCNB3, or CIC-FOXO4 gene fusions.     ///    A review of the literature of the reported cases with CIC-DUX4 fusions including both t(4;19) and t(10;19) translocations revealed a total of 44 cases reported.     ///    High-grade undifferentiated small round cell sarcoma with t(4;19)(q35;q13.1) CIC-DUX4 fusion: emerging entities of soft tissue tumors with unique histopathologic features--a case report and literature review..     ///    \"The aim of this study is to share a new case report of a 36-year-old woman who had a rapidly growing mass in her right upper thigh, which was found to be an undifferentiated small round cell sarcoma with t(4;19)(q35;q13.1) CIC-DUX4 fusion was confirmed by cytogenetic testing. \"    ///    \"CIC-DUX4 fusion can either harbor t(4;19)(q35;q13.1) or t(10;19)(q26.3;q13), while t(4;19)(q35;q13.1) is reported more commonly. \"    ///    \"CIC-DUX4 and CIC-FOXO4 fusions have been reported in soft tissue tumors, while BCOR-CCNB3 fusion with an X chromosomal inversion was described in both bone and soft tissue tumors. \"'), ('2313', 'NFIB_MYB', 't(6;9) / ', 'NFIB', 'MYB', '21618541', '160', 'cylindroma', 'PCR;RT-PCR', '', '', '', '', '', 'KB', '', 'Here we demonstrate, for the first time, that benign sporadic, dermal cylindromas also express the MYB-NFIB gene fusion.     ///    The MYB-NFIB gene fusion-a novel genetic link between adenoid cystic carcinoma and dermal cylindroma..     ///    RT-PCR and immunohistochemical analyses revealed that eight of 12 analysed tumours (67%) expressed MYB-NFIB fusion transcripts and/or stained positive for MYB protein.     ///    \"In contrast, no evidence for the presence of the MYB-NFIB fusion was found in other types of basaloid skin and salivary gland tumours, indicating that the fusion indeed has a restricted expression pattern. \"'), ('2314', 'CCNB3_BCOR', 't(4;19) / t(10;19) / t(4;19)  / t(10;19)  / ', 'CCNB3', 'BCOR', '25683183', '160', 'sarcoma\r\r', '', '', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', ' A subset of undifferentiated small round cell sarcomas (USRCSs) is currently being recognized as emerging entities with unique gene fusions: CIC-DUX4 (the area of focus in this article), BCOR-CCNB3, or CIC-FOXO4 gene fusions.     ///    \"CIC-DUX4 and CIC-FOXO4 fusions have been reported in soft tissue tumors, while BCOR-CCNB3 fusion with an X chromosomal inversion was described in both bone and soft tissue tumors. \"'), ('2315', 'TEL_AML1', '', 'TEL', 'AML1', '9404706', '160', 'cataract', '', '', '', '', '', '', '', '', 'Available bone marrow samples from infants treated since 1985 were analyzed for the presence of MLL gene rearrangements by Southern blot analyses and for TEL-AML1 gene fusion by reverse transcriptase-polymerase chain reaction.     ///    None of the nine infant bone marrow specimens tested had evidence of TEL-AML1 gene fusion. '), ('2316', 'MBR_JH2', 't(14;18)  / ', 'MBR', 'JH2', '16704964', '160', 'follicular lymphoma;lymphoma\r\r', 'PCR', '', '', '', '', '', '', '', 'Detection and quantification of MBR/JH2 t(14;18) BCL-2 gene rearrangement in follicular lymphoma using a combined real-time polymerase chain reaction assay.. '), ('2317', 'EWSR1_CREB3L1', 't(7;16)  / ', 'EWSR1', 'CREB3L1', '24896634', '160', 'sarcoma\r\r', '', '', '', '', '', '', '', '', ' We present the case of a 6-year-old boy with a deceptively bland spindle cell renal neoplasm found to harbor the EWSR1-CREB3L1 gene fusion.     ///    Primary low-grade fibromyxoid sarcoma of the kidney in a child with the alternative EWSR1-CREB3L1 gene fusion.. '), ('2318', 'RARA_PLZF', 't(11;17)  / t(11;17) / t(15;17)  / ', 'RARA', 'PLZF', '7849296', '159', 'acute promyelocytic leukemia;leukemia;disseminated intravascular coagulation\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'All six patients had PLZF-RAR alpha gene fusion as detected by reverse transcription/polymerase chain reaction assay, Southern blotting, or pulsed-field gel electrophoresis. '), ('2319', 'EWSR1_CREB3L1', '', 'EWSR1', 'CREB3L1', '25353281', '159', 'solitary fibrous tumor;clear cell sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Primary renal sclerosing epithelioid fibrosarcoma: report of 2 cases with EWSR1-CREB3L1 gene fusion.. '), ('2320', 'USP6_MYH9', '', 'USP6', 'MYH9', '21826056', '159', 'sarcoma;bone cyst\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Nodular fasciitis: a novel model of transient neoplasia induced by MYH9-USP6 gene fusion.. '), ('2321', 'RET_PTC', '', 'RET', 'PTC', '15368067', '159', 'medullary carcinoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC fusion gene rearrangements in Japanese thyroid carcinomas..     ///    \"RET rearrangements are restricted to a well-differentiated papillary carcinoma, suggesting that RET/PTC positive papillary carcinomas do not progress to undifferentiated carcinoma.. \"    ///    \"However, the reported prevalence of RET/PTC activation in papillary carcinoma was variable, and the clinical relevance of RET/PTC rearrangements in papillary carcinomas is still controversial. \"    ///    The prevalence of RET/PTC activation in papillary carcinoma among the Japanese population was higher than in previous reports. '), ('2322', 'HLF_E2A', 't(4;11) / t(9;22) / t(11;19) / t(12;21) / t(17;19)  / ', 'HLF', 'E2A', '9680106', '159', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', '', '', '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. '), ('2323', 'ETV6_AML1', 't(4;11) / t(9;22) / t(11;19) / t(12;21) / t(17;19)  / ', 'ETV6', 'AML1', '9680106', '159', '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. '), ('2324', 'MAML2_CRTC1', 't(11;19)  / t(11;19) / ', 'MAML2', 'CRTC1', '19438452', '158', 'mucoepidermoid carcinoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Two MECs metastatic to the skin, histologically identical to primary cutaneous MEC, were included, one of which harboured the CRTC1-MAML2 fusion gene by RT-PCR, verified by interphase FISH and sequencing. '), ('2325', 'BCR_ABL1', 't(9;22)  / ', 'BCR', 'ABL1', '11979553', '158', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In 2/16 patients, FISH could not exclude an intact ABL1-BCR fusion gene.     ///    \"Thus, most CML patients without ABL1-BCR transcript could be characterized cytogenetically to belong to two major subgroups: a silent ABL1-BCR gene was attributed to a deletion in der(9)t(9;22) in 56% of the investigated patients or to variants of a standard t(9;22) (approximately 31%). \"    ///    \"Conversely, none of the 50 patients with an ABL1-BCR transcript exhibited a variant t(9;22) in GTG-banding analysis. \"    ///    \" The objective of this study was to characterize the ABL1-BCR fusion gene in 76 BCR-ABL1-positive chronic myeloid leukemia (CML) patients regarding expression as well as genomic status, to assess the frequency of ABL1-BCR gene deletion in these patients, which has been reported to be an adverse prognostic factor in Philadelphia chromosome-positive CML. \"    ///    ABL1-BCR gene status was analyzed by FISH in 16 CML patients with no ABL1-BCR transcript.     ///    \"Thus, genomic aberrations such as deletions or complex genomic rearrangements are the basic and most frequent cause for ABL1-BCR RNA negativity in CML. \"    ///    The heterogeneity of the underlying molecular mechanisms may explain divergent clinical implications described for patients with an ABL1-BCR deletion and those with no ABL1-BCR transcript..     ///    Patients were analyzed for ABL1-BCR 1b-b3 and/or 1b-b4 transcription by RT-PCR analysis.     ///    FISH revealed a partial or total deletion of the ABL1-BCR gene in 9/16 and localized the 5\' portion of ABL1 and the 3\' portion of BCR at separated loci in 5/16 patients. ');
INSERT INTO `ChimerPub_dump` VALUES ('2326', 'CCNB3_BCOR', '', 'CCNB3', 'BCOR', '22387997', '158', 'ewing sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'A new subtype of bone sarcoma defined by BCOR-CCNB3 gene fusion..     ///    \"Finally, we show that CCNB3 immunohistochemistry is a powerful diagnostic marker for this subgroup of sarcoma and that overexpression of BCOR-CCNB3 or of truncated CCNB3 activates S phase in NIH3T3 cells. \"'), ('2327', 'ETO_AML1', 'p12;q22 / t(2;21;8)(p12;q22;q22) / ', 'ETO', 'AML1', '19236738', '158', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'The complex karyotype t(2;21;8)(p12;q22;q22) was detected by cytogenetic analysis combined with FISH in both two cases and AML1/ETO fusion transcripts were found by RT-PCR as well. '), ('2328', 'NUP214_DEK', '', 'NUP214', 'DEK', '26517539', '158', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', '', ' DEK-NUP214 gene fusion in acute myeloid leukemia (AML) is associated with poor prognosis.     ///    \"NUP214-RAC1 and RAC1-COL12A1 Fusion in Complex Variant Translocations Involving Chromosomes 6, 7 and 9 in an Acute Myeloid Leukemia Case with DEK-NUP214.. \"    ///    \"RT-PCR analysis confirmed the expression of DEK-NUP214, NUP214-RAC1, RAC1-COL12A1, NUP214, and RAC1. \"'), ('2329', 'MLL_AF10', 't(4;11)(q21;q23) / t(6;11)(q27;q23) / t(9;11)(p21-22;q23) / t(10;11)(p11-13;q23) / t(11;19) / ', 'MLL', 'AF10', '11480574', '157', 'acute myeloid leukemia;myeloid leukemia;leukemia;hematologic malignancy\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Using the described protocol, we were able to amplify successfully, in one single assay, the six clinically relevant fusion genes generated by the t(4;11)(q21;q23) [MLL/AF4], t(6;11)(q27;q23) [MLL/AF6], t(9;11)(p21-22;q23) [MLL/AF9], t(10;11)(p11-13;q23) [MLL/AF10], t(11;19)(q23;p13.1) [MLL/ELL], and t(11;19)(q23. '), ('2330', 'EWSR1_NFATC2', '', 'EWSR1', 'NFATC2', '24993903', '157', 'bone cancer', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Malignant round cell tumor of bone with EWSR1-NFATC2 gene fusion.    ///    Malignant round cell tumor of bone with EWSR1-NFATC2 gene fusion..     ///    \"Here, we report a malignant round cell tumor of bone with an EWSR1-NFATC2 fusion gene.\"    ///    \"Here, we report a malignant round cell tumor of bone with an EWSR1-NFATC2 fusion gene. \"    ///    This report builds upon the unusual morphological and clinical presentation of bone neoplasms containing an EWSR1-NFATC2 fusion gene.. '), ('2331', 'MLL_ELL', 't(4;11)(q21;q23) / t(6;11)(q27;q23) / t(9;11)(p21-22;q23) / t(10;11)(p11-13;q23) / t(11;19) / ', 'MLL', 'ELL', '11480574', '157', 'acute myeloid leukemia;myeloid leukemia;leukemia;hematologic malignancy\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', 'Seq', 'Using the described protocol, we were able to amplify successfully, in one single assay, the six clinically relevant fusion genes generated by the t(4;11)(q21;q23) [MLL/AF4], t(6;11)(q27;q23) [MLL/AF6], t(9;11)(p21-22;q23) [MLL/AF9], t(10;11)(p11-13;q23) [MLL/AF10], t(11;19)(q23;p13.1) [MLL/ELL], and t(11;19)(q23. '), ('2332', 'MAML2_CRTC1', '', 'MAML2', 'CRTC1', '18050304', '157', 'mucoepidermoid carcinoma\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Both gene fusions seem to result in an identical tumor phenotype and the fusion genes CRTC1-MAML2 and CRTC3-MAML2 may play a similar role in the development of mucoepidermoid carcinomas.. '), ('2333', 'MAML2_CRTC3', '', 'MAML2', 'CRTC3', '18050304', '157', 'mucoepidermoid carcinoma\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', 'Both gene fusions seem to result in an identical tumor phenotype and the fusion genes CRTC1-MAML2 and CRTC3-MAML2 may play a similar role in the development of mucoepidermoid carcinomas..     ///    \"In one of these samples, a CRTC3-MAML2 fusion gene was detected. \"    ///    \" The present study reports for the first time a CRTC3-MAML2 fusion gene in a mucoepidermoid carcinoma, as determined by RT-PCR and sequencing. \"    ///    \"The present study reports for the first time a CRTC3-MAML2 fusion gene in a mucoepidermoid carcinoma, as determined by RT-PCR and sequencing.\"'), ('2334', 'TEL_AML1', 't(12;21)(p13;q22) / ', 'TEL', 'AML1', '15120912', '157', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The frequency of patients with TEL/AML1 gene fusion was 19% (11 out of 58 cases).     ///    Prevalence of TEL/AML1 fusion gene in Brazilian pediatric patients with acute lymphoblastic leukemia..     ///    \"The mean age of the patients with TEL/AML1 fusion was 4.8 years and the mean amount of peripheral leukocytes was 44,270 x 10(6)/L. \"    ///    The prevalence of TEL/AML1 fusion in Brazilian children in our study is similar to that found in other populations..     ///    \"Deletion of the wild-type TEL allele was observed in 27.3% of TEL/AML1 fusion-positive cases, but it was also identified in 4.2% of the negative cases. \"'), ('2335', 'PMP22_ELOVL5', '', 'PMP22', 'ELOVL5', '26672768', '157', 'osteosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'By combining genomic and transcriptomic analysis, certain recurrent rearrangements were identified and further validated in patient biopsies, including a PMP22-ELOVL5 gene fusion, genomic structural variations affecting RB1, MTAP/CDKN2A and MDM2, and, most frequently, rearrangements involving TP53. '), ('2336', 'BCR_ABL1', '', 'BCR', 'ABL1', '23637631', '157', 'leukemia;breast cancer;lung cancer;melanoma;sarcoma;colon cancer;pancreatic cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Gene fusions, like BCR/ABL1 in chronic myelogenous leukemia, have long been recognized in hematologic and mesenchymal malignancies. '), ('2337', 'TEL_AML1', 't(12;21)  / t(12;21) / ', 'TEL', 'AML1', '11731441', '157', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'We developed an in vitro system using cytokines interleukin (IL)-3, IL-7, IL-10, and FMS-like tyrosine kinase 3 ligand with CD40 ligand-expressing fibroblasts to obtain single blast colonies from which clonal immunoglobulin heavy chain (IgH), T-cell receptor delta gene rearrangements, and, in t(12;21)-positive cases, TEL-AML1 fusion transcripts could be simultaneously PCR amplified. '), ('2338', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '20061935', '156', 'dermatofibrosarcoma protuberans;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', '', 'KB', '', 'We show that PDF/DH and superficial (plaque-like) DFSP, subtle clinicopathologic differences notwithstanding, are morphologic look-alikes that can be kept apart by molecular studies of the COL1A1-PDGFB gene fusion.     ///    Formalin-fixed paraffin-embedded archival tissue was used for detection of the COL1A1-PDGFB gene rearrangement by multiplex reverse transcription-polymerase chain reaction (RT-PCR) and by dual color fusion fluorescence in-situ hybridization (FISH).     ///    \"In PDF/DH, both RT-PCR and FISH analysis did not reveal any evidence of COL1A1-PDGFB gene rearrangement. \"    ///    \"For the detection of the COL1A1-PDGFB gene rearrangement in diagnostically difficult cases, RT-PCR and FISH analysis are reliable and helpful diagnostic tools. \"    ///    \"FISH analysis revealed COL1A1-PDGFB gene rearrangement in all DFSP cases (n=7), whereas RT-PCR could detect the COL1A1-PDGFB fusion transcript only in 1 DFSP. \"'), ('2339', 'NTRK1_CHTOP', '', 'NTRK1', 'CHTOP', '25384085', '156', 'thyroid carcinoma;cholangiocarcinoma;lung cancer\r\r', 'PCR', 'Kinase', '', '', '', '', '', '', 'On the basis of our experience with performing AMP on 986 clinical FFPE samples, we show its potential as both a robust clinical assay and a powerful discovery tool, which we used to identify new therapeutically important gene fusions: ARHGEF2-NTRK1 and CHTOP-NTRK1 in glioblastoma, MSN-ROS1, TRIM4-BRAF, VAMP2-NRG1, TPM3-NTRK1 and RUFY2-RET in lung cancer, FGFR2-CREB5 in cholangiocarcinoma and PPL-NTRK1 in thyroid carcinoma. '), ('2340', 'TEL_AML1', '', 'TEL', 'AML1', '10419898', '156', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'Protracted and variable latency of acute lymphoblastic leukemia after TEL-AML1 gene fusion in utero..     ///    \"Leukemic cells in both twins had a TEL-AML1 rearrangement, which was characterized at the DNA level by an adaptation of a long distance polymerase chain reaction (PCR) method. \"    ///    \"However, retrospective scrutiny of the DNA from an archived slide with clonotypic TEL-AML1 primers showed that the presumptive preleukemic clone was present and disseminated 9 years before a clinical diagnosis. \"'), ('2341', 'ETO_AML1', 't(8;21;8)(p23;q22;q22) / t(8;21)  / t(8;21;8)  / t(8;8)(p23;q22) / ', 'ETO', 'AML1', '11699421', '156', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'RT-PCR analysis detected the AML1/ETO fusion transcript in our patient, thus indicating that this chromosomal aberration was, in fact, a complex three-way rearrangement t(8;21;8)(p23;q22;q22). '), ('2342', 'NTRK3_ETV6', '', 'NTRK3', 'ETV6', '16538060', '156', 'ewing sarcoma;fibromatoses;neuroectodermal tumor;rhabdomyosarcoma;soft tissue sarcoma', 'PCR;RT-PCR', 'Kinase', '', '', '', '', 'KB', 'Seq', 'Four cases tested negative for the ETV6-NTRK3 gene fusion by RT-PCR. '), ('2343', 'NTRK1_ARHGEF2', '', 'NTRK1', 'ARHGEF2', '25384085', '156', 'thyroid carcinoma;cholangiocarcinoma;lung cancer\r\r', 'PCR', 'Kinase', '', '', '', 'Transcription_Factor', '', '', 'On the basis of our experience with performing AMP on 986 clinical FFPE samples, we show its potential as both a robust clinical assay and a powerful discovery tool, which we used to identify new therapeutically important gene fusions: ARHGEF2-NTRK1 and CHTOP-NTRK1 in glioblastoma, MSN-ROS1, TRIM4-BRAF, VAMP2-NRG1, TPM3-NTRK1 and RUFY2-RET in lung cancer, FGFR2-CREB5 in cholangiocarcinoma and PPL-NTRK1 in thyroid carcinoma. '), ('2344', 'ETV6_AML1', '', 'ETV6', 'AML1', '9539781', '155', 'lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The TEL (ETV6)-AML1 (CBFA2) gene fusion is the most common reciprocal chromosomal rearrangement in childhood cancer occurring in approximately 25% of the most predominant subtype of leukemia- common acute lymphoblastic leukemia.     ///    Fetal origins of the TEL-AML1 fusion gene in identical twins with leukemia..     ///    \"The TEL-AML1 genomic sequence has been characterized in a pair of monozygotic twins diagnosed at ages 3 years, 6 months and 4 years, 10 months with common acute lymphoblastic leukemia. \"    ///    The twin leukemic DNA shared the same unique (or clonotypic) but nonconstitutive TEL-AML1 fusion sequence. '), ('2345', 'FOG2_AML1', 'p22.3;q22.1 / ', 'FOG2', 'AML1', '15705784', '155', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The reciprocal gene fusions AML1-FOG2 and FOG2-AML1 are both expressed.     ///    \"AML1-FOG2, which fuses the DNA-binding domain of AML1 to most of FOG2, represses the transcriptional activity of both CBF and GATA1. \"    ///    These results suggest a central role for CtBP in AML1-FOG2 transcriptional repression and implicate coordinated disruption of the AML1 and GATAdevelopmental programs in the pathogenesis of myelodysplasia..     ///    AML1-FOG2 retains a motif that recruits the corepressor C-terminal binding protein (CtBP) and these proteins associate in a protein complex.     ///    AML1-FOG2 fusion protein in myelodysplasia.. '), ('2346', 'TPM3_NTRK1', '', 'TPM3', 'NTRK1', '25527197', '155', '', '', 'Kinase', '', '', '', '', 'KB', 'Seq', 'These recent developments have led us to revisit an old oncogene, Trk (originally identified as OncD), which encodes the TPM3-NTRK1 gene fusion and was one of the first transforming chromosomal rearrangements identified 32 years ago. '), ('2347', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '25485532', '155', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', ' The TMPRSS2-ERG gene fusion is one of the most widely spread chromosomal rearrangements in carcinomas.     ///    \"Although the TMPRSS2-ERG gene fusion appears to be a suitable diagnostic biomarker, the prognostic implications of this gene fusion are still unclear. \"    ///    TMPRSS2-ERG gene fusion in prostate cancer.. '), ('2348', 'THOC2_PTK2', '', 'THOC2', 'PTK2', '23749989', '155', '', '', 'Kinase', '', '', '', '', '', '', 'A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia.. '), ('2349', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '26880803', '155', 'prostate cancer;adenocarcinoma\r\r', '', '', '', '', '', '', 'KB', 'Seq', ' TMPRSS2-ERG gene fusions that occur frequently in human prostate cancers can be generated either through insertional chromosomal rearrangement or by intrachromosomal deletion.     ///    \"In this study, we characterized two mouse models recapitulating TMPRSS2-ERG insertion or deletion events in the background of prostate-specific PTEN deficiency. \"    ///    \"Collectively, our findings established that Ets2 is a tumor suppressor gene in prostate cancer, and its loss along with other genes within the TMPRSS2-ERG interstitial region contributes to disease progression. \"'), ('2350', 'MRCK_CCND1', 't(11;14)  / ', 'MRCK', 'CCND1', '27025456', '155', 'mantle cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Discovery and characterization of a novel CCND1/MRCK gene fusion in mantle cell lymphoma.. '), ('2351', 'RARG_NUP98', 't(11;12)(p15;q13) / ', 'RARG', 'NUP98', '20935257', '155', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', '', '', 'A novel NUP98/RARG gene fusion in acute myeloid leukemia resembling acute promyelocytic leukemia.. '), ('2352', 'MLLT1_MLL', '', 'MLLT1', 'MLL', '22335556', '155', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', 'KB', 'Seq', '11q23 rearrangement and duplication of MLLT1-MLL gene fusion in therapy-related acute myeloid leukemia.. '), ('2353', 'BCL2_IG', 't(14;18)  / ', 'BCL2', 'IG', '9922047', '155', 'follicular lymphoma;lymphoma;lymphoproliferative disorder\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Interestingly, bcl-2/Ig gene rearrangements may be identified in nearly 50% of normal individuals but the outcome of normal individuals carrying high levels of t(14;18) is not well defined.     ///    We have recently demonstrated that PPBL is also associated with multiple bcl-2/Ig gene rearrangements.     ///    All patients with persistent polyclonal B cell lymphocytosis present Bcl-2/Ig gene rearrangements.. '), ('2354', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '25266362', '155', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'The highly sensitive PRISM-SRM assays provided confident detection of 6 unique ERG peptides in both TMPRSS2-ERG positive cell lines and tissues, but not in cell lines or tissues lacking the TMPRSS2-ERG rearrangement, clearly indicating that ERG protein expression is significantly increased in the presence of the TMPRSS2-ERG gene fusion.     ///    \"Studies of TMPRSS2-ERG gene fusions have seldom been performed at the protein level, primarily due to the lack of high-quality antibodies suitable for quantitative studies. \"    ///    \"Three peptides, shared across almost all fusion protein products, were determined to be the most abundant peptides, providing \"\"signature\"\" peptides for detection of ERG over-expression resulting from TMPRSS2-ERG gene fusion. \"    ///    The PRISM-SRM assays provide valuable tools for studying TMPRSS2-ERG gene fusion protein products in prostate cancer..     ///    \"Significantly, our results provide evidence that two distinct ERG protein isoforms are simultaneously expressed in TMPRSS2-ERG positive samples as evidenced by the concomitant detection of two mutually exclusive peptides in two patient tumors and in the VCaP prostate cancer cell line. \"'), ('2355', 'TEL_AML1', '', 'TEL', 'AML1', '10551495', '154', '', 'PCR', '', '', '', '', '', '', '', 'TEL-AML1 gene fusion due to chromosomal translocation is frequently seen in the common form of childhood acute lymphoblastic leukaemia.     ///    We amplified and sequenced the genomic TEL-AML1 fusion gene with a long-distance inverse PCR method.     ///    \"We identified, by reverse-transcriptase PCR screening of blood or bone marrow, TEL-AML1 fusion in 12 children, plus a pair of identical twins, aged 2-5 years from Italy and the UK, who had newly diagnosed acute lymphoblastic leukaemia. \"    ///    \"Primers were designed that could be used in short-range PCR to screen for patient-specific, leukaemia clone-specific TEL-AML1 genomic fusion sequences in neonatal blood spots from each child. \"    ///    \"We initially identified TEL-AML1 fusion sequences in blood spots from the identical twins, diagnosed with concordant acute lymphoblastic leukaemia at age 4 years, who shared a single or clonotypic TEL-AML1 sequence that suggested prenatal origin in one twin. \"'), ('2356', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '22076164', '154', 'prostate cancer;ovarian cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2:ERG is a gene fusion resulting from the chromosomal rearrangement of the androgen-regulated TMPRSS2 gene and the ETS transcription factor ERG, leading to the over-expression of the oncogenic molecule ERG.    ///    \" TMPRSS2:ERG is a gene fusion resulting from the chromosomal rearrangement of the androgen-regulated TMPRSS2 gene and the ETS transcription factor ERG, leading to the over-expression of the oncogenic molecule ERG. \"    ///    These results suggest that the oncogenic gene fusion TMPRSS2:ERG does not occur in ovarian cancer relative to prostate cancer.     ///    The oncogenic gene fusion TMPRSS2: ERG is not a diagnostic or prognostic marker for ovarian cancer..     ///    \"However, little is known about the role of the TMPRSS2:ERG gene fusion in ovarian cancer. \"'), ('2357', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '17079440', '154', 'prostate cancer\r\r', 'PCR', '', '', '', '', '', 'KB', 'Seq', 'Seven cases showed TMPRSS2:ERG gene fusions, whereas the TMPRSS2:ETV4 fusion was seen in one case.     ///    \"In summary, our data indicate that the TMPRSS2:ERG translocation is common in advanced prostate cancer and occurs by virtue of unbalanced genomic rearrangements. \"'), ('2358', 'TMPRSS2_ETV4', '', 'TMPRSS2', 'ETV4', '17079440', '154', 'prostate cancer\r\r', 'PCR', '', '', '', '', '', 'KB', 'Seq', 'Seven cases showed TMPRSS2:ERG gene fusions, whereas the TMPRSS2:ETV4 fusion was seen in one case. '), ('2359', 'NUP98_HOXD13', 't(2;11)(q31;p15) / t(2;11)  / ', 'NUP98', 'HOXD13', '10931000', '154', 'myelodysplastic syndrome\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'Generation of the NUP98-HOXD13 fusion transcript by a rare translocation, t(2;11)(q31;p15), in a case of infant leukaemia..     ///    \"This case is the third report of t(2;11) leukaemia with NUP98-HOXD13 and the first report showing that NUP98 rearrangements are associated with infant leukaemia, as well as therapy-related acute myelogenous leukaemia or myelodysplastic syndrome.. \"    ///    The NUP98-HOXD13 fusion transcript generated by the translocation was detected in the patient\'s bone marrow cells by reverse transcription-polymerase chain reaction (RT-PCR). '), ('2360', 'ETO_AML1', 't(8;21)(q22;q22) / ', 'ETO', 'AML1', '12764380', '154', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' The fusion transcript AML1/ETO corresponding to translocation t(8;21)(q22;q22) can be found in approximately 7-12% of childhood de novo AML.     ///    \"Three of the relapsed children showed, prior to relapse, an increase of the AML1/ETO fusion transcript at 6, 9, and 11 weeks, respectively. \"    ///    Monitoring of minimal residual disease (MRD) by real-time quantitative reverse transcription PCR (RQ-RT-PCR) in childhood acute myeloid leukemia with AML1/ETO rearrangement..     ///    \"Therefore, we analyzed the follow-up of 15 AML1/ETO-positive children using real-time quantitative reverse transcription PCR (RQ-RT-PCR), all enrolled in the multicenter therapy trial AML-BFM 98. \"    ///    \"At diagnosis, a median of 10 789 copies AML1/ETO was found. \"    ///    AML1/ETO copy numbers were normalized to the control gene ABL and the results were expressed in copy numbers AML1/ETO per 10 000 copies ABL. '), ('2361', 'RARA_PML', 't(8;21) / inv(16) / t(15;17) / t(9;22) / t(4;11) / ', 'RARA', 'PML', '11896540', '153', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'We investigated 105 consecutive AML cases for the presence of fusion gene transcripts by reverse transcriptase polymerase chain reaction (RT-PCR): AML1-ETO associated with t(8;21), CBFB-MYH11 with inv(16), PML-RARA with t(15;17), BCR-ABL with t(9;22), and MLL-AF4 with t(4;11). '), ('2362', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '25088707', '153', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', ' Aberrant overexpression of ERG induced by the TMPRSS2-ERG gene fusion is likely involved in the development of prostate cancer.     ///    \"In the present study, we designed a PI polyamide targeting TMPRSS2-ERG translocation breakpoints and assessed its effect on human prostate cancer cells. \"'), ('2363', 'MYH11_CBFB', 't(8;21) / inv(16) / t(15;17) / t(9;22) / t(4;11) / ', 'MYH11', 'CBFB', '11896540', '153', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'We investigated 105 consecutive AML cases for the presence of fusion gene transcripts by reverse transcriptase polymerase chain reaction (RT-PCR): AML1-ETO associated with t(8;21), CBFB-MYH11 with inv(16), PML-RARA with t(15;17), BCR-ABL with t(9;22), and MLL-AF4 with t(4;11). '), ('2364', 'NUP98_HOXA9', 't(7;11)(p15;p15) / t(7;11) / t(7;11)  / ', 'NUP98', 'HOXA9', '10583265', '153', 'myelodysplastic syndrome\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Molecular heterogeneity of the NUP98/HOXA9 fusion transcript in myelodysplastic syndromes associated with t(7;11)(p15;p15)..     ///    Each of them lacked the common 141 bp NUP98 exon which was contained in the NUP98/HOXA9 fusion transcripts detected in patient 2 and the reported AML cases.     ///    Patient 1 had two types of the novel NUP98/HOXA9 fusion transcripts.     ///    The invariant chimaeric NUP98/HOXA9 transcripts are a result of the fact that each breakpoint of the NUP98 and the corresponding breakpoint of the HOXA9 gene cluster occur within the same intron. '), ('2365', 'ALL1_AF4', 't(4;11)  / t(4;11) / ', 'ALL1', 'AF4', '8219184', '153', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Detection of ALL-1/AF4 fusion transcript by reverse transcription-polymerase chain reaction for diagnosis and monitoring of acute leukemias with the t(4;11) translocation..     ///    The ALL-1/AF4 fusion gene is transcribed into a chimeric mRNA. '), ('2366', 'FLI_EWS', 't(11;22) (q24;q12) / ', 'FLI', 'EWS', '9989842', '153', 'adamantinoma', '', '', '', '', '', '', '', '', 'At(11;22) (q24;q12) was found in one neoplasm and a type II EWS/FLI-1 fusion transcript was detected in all three neoplasms. '), ('2367', 'Immunoglobulin _MYC', 't(8;14)(q24;q32) / ', 'Immunoglobulin ', 'MYC', '10653866', '153', 'lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' t(8;14)(q24;q32) and/or c-MYC/immunoglobulin heavy-chain (IGH) fusion gene have been observed not only in Burkitt\'s lymphoma (BL) but also in a proportion of non-BL, diffuse large-cell lymphoma of B-cell type (DLCL).     ///    \"Molecular and clinical features of non-Burkitt\'s, diffuse large-cell lymphoma of B-cell type associated with the c-MYC/immunoglobulin heavy-chain fusion gene.. \"'), ('2368', 'BCL2_IG', 't(14;18)  / t(14;18) / ', 'BCL2', 'IG', '2771409', '153', 'leukemia;follicular lymphoma;B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The half-life of bcl-2 mRNA (approximately 2-3 hr) was similar in all cell lines examined, including a t(14;18)-containing follicular lymphoma cell line, which has a translocated and rearranged bcl-2 gene that produces bcl-2/Ig fusion transcripts.     ///    \"However, in the presence of cycloheximide (inhibitor of protein synthesis), the half-life of some of the bcl-2/Ig mRNAs produced by these cells was prolonged, indicating that in some circumstances mRNA stability may contribute to deregulated bcl-2 expression. \"'), ('2369', 'ETO_AML1', 't(8;21) / inv(16) / t(15;17) / t(9;22) / t(4;11) / ', 'ETO', 'AML1', '11896540', '153', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'We investigated 105 consecutive AML cases for the presence of fusion gene transcripts by reverse transcriptase polymerase chain reaction (RT-PCR): AML1-ETO associated with t(8;21), CBFB-MYH11 with inv(16), PML-RARA with t(15;17), BCR-ABL with t(9;22), and MLL-AF4 with t(4;11). '), ('2370', 'PCM1_JAK2', 't(8;9)(p22;p24) / t(9;22)(p24;q11) / ', 'PCM1', 'JAK2', '25260694', '153', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', ' 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.. '), ('2371', 'IRF2BP2_CDX1', 't(1;5)(q42;q32) / / ', 'IRF2BP2', 'CDX1', '24839999', '152', 'mesenchymal chondrosarcoma', 'PCR;RT-PCR', '', '', '', '', '', 'KB', '', 'Recently, two fusion genes were described in mesenchymal chondrosarcomas: a recurrent HEY1-NCOA2 found in tumors that had not been cytogenetically characterized and an IRF2BP2-CDX1 found in a tumor carrying a t(1;5)(q42;q32) translocation as the sole chromosomal abnormality.    ///    \"Recently, two fusion genes were described in mesenchymal chondrosarcomas: a recurrent HEY1-NCOA2 found in tumors that had not been cytogenetically characterized and an IRF2BP2-CDX1 found in a tumor carrying a t(1;5)(q42;q32) translocation as the sole chromosomal abnormality. \"'), ('2372', 'TACC3_FGFR3', '4p16.3 / ', 'TACC3', 'FGFR3', '23298836', '152', '', '', 'Kinase', '', '', '', '', '', '', 'These results demonstrated that the FGFR3-TACC3 gene fusion is expressed in human cancer and generates an oncogenic protein that promotes tumorigenesis in glioblastoma..     ///    The tumorigenic FGFR3-TACC3 gene fusion escapes miR-99a regulation in glioblastoma..     ///    \"We performed whole transcriptome sequencing to identify fusion genes in glioma and discovered FGFR3-TACC3 fusions in 4 of 48 glioblastoma samples from patients both of mixed European and of Asian descent, but not in any of 43 low-grade glioma samples tested. \"    ///    \"We performed whole transcriptome sequencing to identify fusion genes in glioma and discovered FGFR3-TACC3 fusions in 4 of 48 glioblastoma samples from patients both of mixed European and of Asian descent, but not in any of 43 low-grade glioma samples tested.\"'), ('2373', 'PPARG_CREB3L2', 't(3;7)(p25;q34) / ', 'PPARG', 'CREB3L2', '18757431', '152', 'thyroid carcinoma;thyloid cancer;leukemia\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', '', '', 'Our findings identify a novel CREB3L2-PPARgamma gene fusion mutation in thyroid carcinoma and reveal a thyroid signaling pathway that is regulated by intramembrane proteolysis and disrupted in cancer..     ///    \"Here, we report our discovery of a novel CREB3L2-PPARgamma fusion mutation in thyroid carcinoma with t(3;7)(p25;q34), showing that a family of somatic PPARgamma fusion mutations exist in thyroid cancer. \"    ///    \"Nuclear CREB3L2 stimulated transcription 8-fold from the EVX1 cyclic AMP (cAMP) response element in the absence of cAMP, whereas CREB3L2-PPARgamma inhibited transcription 6-fold from EVX1 in the same experiments. \"    ///    \"CREB3L2-PPARgamma also inhibited 4-fold the expression of thyroglobulin, a native cAMP-responsive gene, in primary thyroid cells treated with thyroid-stimulating hormone. \"    ///    \"Engineered overexpression of CREB3L2-PPARgamma induced proliferation by 40% to 45% in primary human thyroid cells, consistent with a dominant oncogenic mechanism. \"    ///    CREB3L2-PPARgamma was detected in <3% of thyroid follicular carcinomas.     ///    CREB3L2-PPARgamma fusion mutation identifies a thyroid signaling pathway regulated by intramembrane proteolysis..     ///    The CREB3L2-PPARgamma fusion encodes a CREB3L2-PPARgamma fusion protein that is composed of the transactivation domain of CREB3L2 and all functional domains of PPARgamma1. '), ('2374', 'TEL_AML1', 't(12;21)  / ', 'TEL', 'AML1', '9628428', '152', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'This study confirmed that TEL/AML1 gene fusion is the most common genetic event in pediatric ALL in Japan and is restricted to CD10-positive B-precursor ALL.     ///     A retrospective study was conducted to investigate the prognostic significance of TEL/AML1 fusion resulting from a cryptic t(12;21) in Japanese patients with childhood B-precursor acute lymphoblastic leukemia (ALL).     ///    \"Although the overall 5-year survival rate was better among patients with TEL/AML1 fusion transcript than among those without it (87.3 +/- 8.7% versus 75.9 +/- 5.8%, respectively), the 5-year disease-free survival (DFS) rates of patients with TEL/AML1 fusion transcript and those without it were similar (64.0 +/- 13.5% versus 69.1 +/- 6.3%, respectively). \"    ///    Prognostic significance of TEL/AML1 fusion transcript in childhood B-precursor acute lymphoblastic leukemia..     ///    \"However, for 57 patients treated with the latest intensive protocol, the 4-year DFS rate was much higher for the patients with TEL/AML1 fusion transcript than for those without it (100.0% v.s. \"    ///    \"TEL/AML1 was not found in any samples from the patients with T-ALL, B-ALL, or CD10-negative B-precursor ALL. \"    ///    \"Therefore, these data suggest that the patients with TEL/AML1 may not necessarily be candidates for less aggressive treatment.. \"    ///    The frequency of patients with TEL/AML1 was 16% (23 of 144) and all patients with TEL/AML1 also had CD10-positive B-precursor ALL.     ///    \"Among patients with CD10-positive B-precursor ALL, age, initial white blood cell count, and immunophenotype did not differ with TEL/AML1 positivity, although the patients were predominantly male (p < 0.01). \"    ///    Five of the 21 (23.8%) patients with TEL/AML1 relapsed and 4 of these relapsed > 24 months after diagnosis. '), ('2375', 'NCOA2_HEY1', 't(1;5)(q42;q32) / del(10)(p11) / ', 'NCOA2', 'HEY1', '24839999', '152', 'mesenchymal chondrosarcoma', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', 'Recently, two fusion genes were described in mesenchymal chondrosarcomas: a recurrent HEY1-NCOA2 found in tumors that had not been cytogenetically characterized and an IRF2BP2-CDX1 found in a tumor carrying a t(1;5)(q42;q32) translocation as the sole chromosomal abnormality.     ///    Chromosome aberrations and HEY1-NCOA2 fusion gene in a mesenchymal chondrosarcoma.. '), ('2376', 'NTRK1_LMNA', '', 'NTRK1', 'LMNA', '26563355', '151', 'colorectal cancer', '', 'Kinase', '', '', '', '', '', '', 'Sensitivity to Entrectinib Associated With a Novel LMNA-NTRK1 Gene Fusion in Metastatic Colorectal Cancer..     ///    \"Molecular characterization unveiled a novel LMNA-NTRK1 rearrangement within chromosome 1 with oncogenic potential, and the patient was treated with the pan-TRK inhibitor entrectinib, achieving partial response with decrease in hepatic target lesions from 6.8 and 8.2cm in longest diameter to 4.7 and 4.3cm, respectively.\"    ///    \"Molecular characterization unveiled a novel LMNA-NTRK1 rearrangement within chromosome 1 with oncogenic potential, and the patient was treated with the pan-TRK inhibitor entrectinib, achieving partial response with decrease in hepatic target lesions from 6.8 and 8.2cm in longest diameter to 4.7 and 4.3cm, respectively. \"'), ('2377', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23381693', '151', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'The TMPRSS2-ERG gene fusion resulting in ERG overexpression has been found in around 50% of prostate cancers (PCa) and is a very early event in tumorigenesis.    ///     The TMPRSS2-ERG gene fusion resulting in ERG overexpression has been found in around 50% of prostate cancers (PCa) and is a very early event in tumorigenesis. '), ('2378', 'STAT6_NAB2', '', 'STAT6', 'NAB2', '26817999', '151', 'solitary fibrous tumor\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Clinical targeted-exome sequencing (DFBWCC Oncopanel) identified multiple functional variants including IDH1 (p.R132H), TP53 (p.Y126_splice), ATRX (p.R1302fs*), HNF1A (p.R263H) and NF1 (p.H2592del) variants and a NAB2-STAT6 gene fusion event involving NAB2 exon 3 and STAT6 exon 18.     ///    Case Report: Next generation sequencing identifies a NAB2-STAT6 fusion in Glioblastoma.    ///    \"While NAB2:STAT6 fusions are common in solitary fibrous tumors (SFT), we report this event for the first time in a newly diagnosed, secondary-type GBM or any other non-SFT. \"    ///    Case Report: Next generation sequencing identifies a NAB2-STAT6 fusion in Glioblastoma.. '), ('2379', 'EML4_ALK', '', 'EML4', 'ALK', '25929953', '151', 'lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The EML4-ALK gene fusion is detected in 4-8% of all lung cancers, predominantly in light smokers or nonsmokers. '), ('2380', 'OAT_CDC27', '', 'OAT', 'CDC27', '26921337', '151', 'prostate cancer\r\r', '', '', '', '', '', '', '', '', 'We also identified mutations that appeared specific to or more common in African American patients, including a novel CDC27-OAT gene fusion occurring in 17% of patients. '), ('2381', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23410972', '151', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Whereas EO-PCAs harbored a prevalence of balanced SRs, with a specific abundance of androgen-regulated ETS gene fusions including TMPRSS2:ERG, elderly-onset PCAs displayed primarily non-androgen-associated SRs. '), ('2382', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '15995322', '151', 'hypereosinophilic syndrome;hypereosinophilic syndrome,;myeloproliferative disorder;systemic lupus erythematosus', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Discovery of the cryptic FIP1L1-PDGFRA gene fusion in cytogenetically normal patients with systemic mast cell disease with eosinophilia or idiopathic HES has redefined these diseases as clonal eosinophilias. '), ('2383', 'EML4_ALK', '', 'EML4', 'ALK', '26766993', '151', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'EML4-ALK gene fusion was tested in 43.9% (127/289) of NSCLC patients, and 98.4% (125/127) showed conclusive results: 6.4% (8/125) of those had gene fusion. '), ('2384', 'DCTN1_ALK', '', 'DCTN1', 'ALK', '26062823', '151', 'smooth muscle tumor', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Immunostains showed diffuse positivity for ALK1 expression and comprehensive genomic profiling identified an in frame DCTN1-ALK gene fusion.     ///    \"To our knowledge, this case represents the first report of clinical response to targeted therapy in a tumor harboring a DCTN1-ALK fusion protein. \"'), ('2385', 'PDGFRB_ETV6', '', 'PDGFRB', 'ETV6', '19147089', '151', 'essential thrombocythemia;primary myelofibrosis;pure red cell aplasia', '', 'Kinase', '', '', 'Receptor', '', 'KB', '', ' Therapeutically validated oncoproteins in myeloproliferative neoplasms (MPNs) include BCR-ABL in chronic myelogenous leukemia (CML) and a spectrum of PDGFRA/B mutant proteins that are products of intra- (eg, FIP1L1-PDGFRA) or interchromosomal (eg, ETV6-PDGFRB) gene fusions. '), ('2386', 'PDGFRB_EBF1', '', 'PDGFRB', 'EBF1', '26872634', '151', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', '', '', 'Receptor', '', '', '', ' The EBF1-PDGFRB gene fusion accounts for <1% of B-cell precursor acute lymphoblastic leukemia (ALL) cases and occurs within the Philadelphia-like ALL subtype.     ///    \"These findings have prompted screening for EBF1-PDGFRB in patients entered onto the current UKALL 2011 trial for whom induction therapy failed, who did not achieve remission by day 29, or who remained MRD positive (>0.5%) at week 14. \"    ///    \"Two UKALL 2011 patients, positive for EBF1-PDGFRB, received imatinib. \"    ///    EBF1-PDGFRB fusion in pediatric B-cell precursor acute lymphoblastic leukemia (BCP-ALL): genetic profile and clinical implications.. '), ('2387', 'PDGFRB_ETV6', '', 'PDGFRB', 'ETV6', '19175693', '151', 'essential thrombocythemia;polycythemia vera;primary myelofibrosis;systemic mastocytosis', '', 'Kinase', '', '', 'Receptor', '', 'KB', '', 'ETV6-PDGFRB) gene fusions. '), ('2388', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '25388957', '151', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' Studies on twins with concordant acute lymphoblastic leukemia (ALL) have revealed that ETV6-RUNX1 gene fusion is a common, prenatal genetic event with other driver aberrations occurring subclonally and probably postnatally.     ///    We reasoned that shared clonal rearrangements of IG or TCR genes by concordant ALL in twins would be informative about the fetal cell type in which clonal advantage is elicited by ETV6-RUNX1.     ///    The fetal cell type that is transformed by ETV6-RUNX1 is not identified by such studies or by the analysis of early B-cell lineage phenotype of derived progeny.     ///    Clonal origins of ETV6-RUNX1? acute lymphoblastic leukemia: studies in monozygotic twins..     ///    Our data suggest that the pre-leukemic initiating function of ETV6-RUNX1 fusion is associated with clonal expansion early in the fetal B-cell lineage. '), ('2389', 'ESRRA_C11orf20', '', 'ESRRA', 'C11orf20', '21949640', '151', 'ovarian cancer;ovarian cancer\r\r', 'PCR;RT-PCR', '', '', '', 'Receptor', '', '', '', 'ESRRA-C11orf20 is a recurrent gene fusion in serous ovarian carcinoma.. '), ('2390', 'SYT_SSX', '', 'SYT', 'SSX', '18070443', '151', 'synovial sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'In all of the cases studied, the gene fusion product SYT-SSX was also analyzed by reverse transcription-polymerase chain reaction (RT-PCR). '), ('2391', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '25518340', '151', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2-ERG gene fusion is one of the most prevalent signatures in CRPC. '), ('2392', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '24445294', '151', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Whereas EO-PCAs harbored a prevalence of balanced SRs, with a specific abundance of androgen-regulated ETS gene fusions including TMPRSS2:ERG, elderly-onset PCAs displayed primarily non-androgen-associated SRs. '), ('2393', 'NTRK3_ETV6', '', 'NTRK3', 'ETV6', '23944930', '151', 'acinic cell carcinoma', '', 'Kinase', '', '', '', '', 'KB', 'Seq', ' Secretory carcinoma (SC) is a rare histological type of breast cancer, and ETV6-NTRK3 gene fusion is highly specific to it.     ///    \"We confirmed that ETV6-NTRK3 gene rearrangement and amylase positivity are good diagnostic markers for SC and ACCA, respectively. \"'), ('2394', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '26921337', '151', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'However, TMPRSS2-ERG gene fusions and PTEN losses occurred in only 21% and 8% of the African American patients, respectively, far less common than in patients of European ancestry. '), ('2395', 'MAML2_CRTC1', '', 'MAML2', 'CRTC1', '17334997', '151', 'hidradenoma', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'FISH and RT-PCR analyses revealed that hidradenomas are genetically heterogeneous, and that 10 of the 20 tumors analyzed (50%) contained the CRTC1-MAML2 gene fusion and expressed the resulting fusion transcript.     ///    Our findings thus demonstrate that the CRTC1-MAML2 gene fusion is frequent in hidradenomas and is associated with clear cell variants of this tumor.     ///    Here we show that the CRTC1-MAML2 gene fusion is also frequent in benign hidradenomas of the skin.     ///    \"Taken together, the present and previous observations indicate that the CRTC1-MAML2 fusion is etiologically linked to benign and low-grade malignant tumors originating from diverse exocrine glands rather than being linked to a separate tumor entity.. \"    ///    \"The CRTC1-MAML2 fusion protein acts by inducing transcription of cAMP/CREB target genes, and this activity is crucial for the transforming properties of the protein. \"'), ('2396', 'IG_BCL2', 't(14;18) / ', 'IG', 'BCL2', '9207405', '151', 'non Hodgkin lymphoma;lymphoma;lymphoproliferative disorder\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Bcl-2/Ig gene rearrangement was determined by polymerase chain reaction targeting the usual breakpoint regions of the t(14;18).     ///    The frequency of the bcl-2/Ig gene rearrangement is estimated to be of one translocation in 1 x 10(2) to 1 x 10(3) peripheral blood mononuclear cells.     ///    Multiple bcl-2/Ig gene rearrangements in persistent polyclonal B-cell lymphocytosis..     ///    We conclude that persistent polyclonal B-cell lymphocytosis is associated with bcl-2/Ig gene rearrangement.     ///    \"Owing to the role of Bcl-2 oncogene in inhibition of apoptosis, we have investigated the presence of the bcl-2/Ig gene rearrangement. \"    ///    \"Bcl-2/Ig gene rearrangement was identified in all six patients and, more importantly, multiple rearrangements were present in five patients. \"'), ('2397', 'MPP5_FAM71D', '', 'MPP5', 'FAM71D', '24488012', '151', 'prostate cancer\r\r', 'PCR', '', '', '', '', '', '', '', 'Two gene fusions were in-frame: MPP5-FAM71D in PC346C and ARHGEF3-C8ORF38 in G089.     ///    Downregulation of FAM71D and MPP5-FAM71D transcripts in PC346C cells decreased proliferation.     ///    The unique in-frame MPP5-FAM71D fusion product is important for proliferation of PC346C cells.. '), ('2398', 'RET_PTC3', '', 'RET', 'PTC3', '15737050', '150', 'goitre', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Reverse transcriptase polymerase chain reaction using specific primers for RET/PTC1 and RET/PTC3 fusion genes identified a RET/PTC3 gene rearrangement in the rhabdoid tumor. '), ('2399', 'MLLT10_MLL', '', 'MLLT10', 'MLL', '11896537', '150', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', 'KB', '', 'We observed an as yet unreported chromosomal mechanism with at least four breakpoints, leading to MLL-MLLT10 gene fusion in a 24-year-old male.     ///    10;11 rearrangements require at least three breaks in order to generate an in-frame MLL-MLLT10 fusion as a result of the opposite orientations of both genes on the respective chromosome arms.     ///    \"In this study, we describe a detailed molecular cytogenetic analysis of MLL-MLLT10 positive 10;11 rearrangements in two patients. \"'), ('2400', 'TPR_FGFR1', 't(1;8) / ', 'TPR', 'FGFR1', '25037443', '150', 'lymphoma\r\r', '', 'Kinase', '', '', '', '', '', '', 'Molecular identification of a TPR-FGFR1 fusion transcript in an adult with myeloproliferative neoplasm, T-lymphoblastic lymphoma, and a t(1;8)(q25;p11.2)..     ///    \"We report herein a rare case of a t(1;8)(q25;p11.2) with a TPR-FGFR1 rearrangement, in which the patient presented with myeloproliferative neoplasm-like symptoms and T-lymphoblastic lymphoma. \"    ///    \"Sequence analysis revealed a fusion transcript with exon 22 of the TPR gene joined to exon 13 of the FGFR1 gene, which is a novel breakpoint for the TPR gene in the TPR-FGFR1 rearrangement.. \"'), ('2401', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23204237', '150', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'In this study, we examined a series of adjacent G3 and Gleason pattern 4 (G4) tumors in radical prostatectomy specimens and found that all were concordant for the TMPRSS2:ERG gene fusion. '), ('2402', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '22842571', '150', 'dermatofibrosarcoma protuberans;sarcoma\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', '', 'KB', '', 'A rapid and efficient newly established method to detect COL1A1-PDGFB gene fusion in dermatofibrosarcoma protuberans..     ///    The newly developed method is valuable to rapidly identify COL1A1-PDGFB fusion transcripts in DFSP..     ///    \"To detect the COL1A1-PDGFB fusion, almost previous reports performed reverse transcription polymerase chain reaction (RT-PCR) using multiplex forward primers from COL1A1. \"    ///    \"In all cases of DFSP, the COL1A1-PDGFB fusion was detected by both previous method and newly established one-step PCR. \"'), ('2403', 'TFE3_ASPL', '', 'TFE3', 'ASPL', '19228722', '149', 'renal cell carcinoma\r\r', '', '', '', '', '', '', '', '', 'Of the four Xp11 translocation RCC patients whose karyotypes were determined, two had an ASPL-TFE3 gene fusion. '), ('2404', 'MLL_ELL', 't(4;11)  / t(6;11) / t(8;11) / t(7;8;11) / t(9;11)  / ', 'MLL', 'ELL', '16383239', '149', '', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', 'Seq', 'Among 106 cases analyzed by multiplex RT-PCR, MLL gene rearrangements were found in 11 cases, including MLL/AF4 fusion gene in 2, MLL/AF6 fusion gene in 1, MLL/AF6 and MLL/ELL combined with MLL/ AFX or HOX11 in one case each, MLL/AF9 in 2, MLL/AF10 in 1, MLL/ELL in 2. '), ('2405', 'SEPT9_MLL', 't(11;17)(q23;q25) / ', 'SEPT9', 'MLL', '20113838', '149', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Coexistence of alternative MLL-SEPT9 fusion transcripts in an acute myeloid leukemia with t(11;17)(q23;q25)..     ///    \"Molecular analysis led to the identification of two coexistent in-frame MLL-SEPT9 fusion transcripts (variants 1 and 2), presumably resulting from alternative splicing. \"    ///    \"This is the first description of a MLL-SEPT9 fusion resulting in coexistence of two alternative splicing variants, each of which previously found isolated in myeloid leukemias.. \"    ///    Real-time quantitative RT-PCR analysis showed that the relative expression of the MLL-SEPT9 fusion variant 2 was 1.88 fold higher than the relative expression of MLL-SEPT9 fusion variant 1. '), ('2406', 'BCR_ABL1', 't(8;9;22)  / ', 'BCR', 'ABL1', '21325259', '149', 'acute lymphoblastic leukemia;chronic myeloid leukemia;myeloid leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Based on bone marrow morphology, chromosome fluorescent in situ hybridization (FISH), reverse transcriptase-polymerase chain reaction (RT-PCR), and flow cytometrry, this patient was diagnosed with B lymphoblastic leukemia/lymphoma associated with both t(8;9;22) (q21;q34;q11.2) and BCR/ABL1 rearrangement (e1a2 type). '), ('2407', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '17584912', '149', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Microdeletion and concurrent translocation associated with a complex TMPRSS2:ERG prostate cancer gene fusion.. '), ('2408', 'ETO_AML1', 't(8;21)  / t(8;21) / ', 'ETO', 'AML1', '8402610', '149', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Detection of the AML1/ETO fusion transcript in the t(8;21) masked translocation in acute myelogenous leukemia..     ///    \"Together, our results demonstrate that there is a masked t(8;21) translocation in AML that is not detectable by cytogenetic analysis but is able to transcribe an AML1/ETO fusion transcript similar to that transcribed in t(8;21)-positive AML-M2 patients.. \"    ///     The fusion transcript AML1/ETO was detected in the bone marrow of two t(8;21)-negative acute myelogenous leukemia (AML) patients by means of reverse transcription-polymerase chain reaction. '), ('2409', 'SYT_SSX', '', 'SYT', 'SSX', '19094483', '149', 'synovial sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Moreover, SYT-SSX gene fusion was detected in 78.1% (100/128) of the equivocal synovial sarcomas.     ///     To establish a method of SYT-SSX fusion gene detection by FISH and to explore its diagnostic value for synovial sarcoma.     ///    \"The presence of SYT-SSX fusion gene was determined by FISH using a tissue microarray containing 62 known synovial sarcomas, 60 non-synovial sarcomas and 133 equivocal synovial sarcomas. \"    ///    The sensitivity and specificity of FISH detection of SYT-SSX fusion gene are high.     ///    [Diagnostic value of SYT-SSX fusion gene detection by fluorescence in-situ hybridization for synovial sarcoma].. '), ('2410', 'RUNX1_MECOM', 't(3;21)(q26;q22) / t(15;17)(q22;q21) / ', 'RUNX1', 'MECOM', '19027486', '149', 'acute promyelocytic leukemia;myelodysplastic syndrome;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Acute promyelocytic leukemia relapsing as secondary acute myelogenous leukemia with translocation t(3;21)(q26;q22) and RUNX1-MDS1-EVI1 fusion transcript..     ///    \"Here we describe a rare case of APL relapsing as secondary AML with t(3;21)(q26;q22) and clinically characterize this patient using the RUNX1 (previously AML1)-MDS1-EVI1 fusion transcript (with follow-up for 55 months), and review the relevant literature.. \"'), ('2411', 'NFIB_MYB', '', 'NFIB', 'MYB', '25487882', '149', 'adenoid cystic carcinoma\r\r', '', '', '', '', '', '', 'KB', '', 'Recent genetic analyses found that recurrent chromosome 6:9 translocations in ACC generate an MYB:NFIB gene fusion resulting in overexpression of the MYB oncoprotein. '), ('2412', 'TFE3_ASPL', '', 'TFE3', 'ASPL', '15992428', '149', '', '', '', '', '', '', '', '', '', ' We report the case of a 58-year old patient, showing a solid image in the right kidney, who underwent radical nephrectomy that revealed neoplasia, whose pathological study led to the diagnosis of kidney carcinoma associated with Xp11.2 translocation / TFE3 (ASPL-TFE3) gene fusion.     ///    Kidney carcinoma associated with Xp11.2 translocation / TFE3 (ASPL-TFE3) gene fusion.. '), ('2413', 'EWS_ERG', '', 'EWS', 'ERG', '19013896', '149', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'ES, a tumor characterized by chromosomal translocations that originate gene fusions (EWS-FLI1, EWS-ERG), is an example of a good chemotherapy responder tumor whose survival rate shows a plateau in recent years. '), ('2414', 'TEL_AML1', 'p13;q22 / t(12;21)(p13;q22) / t(12;21) / t(5;12)(q31;p13) / ', 'TEL', 'AML1', '9067587', '148', 'acute myeloid leukemia;acute lymphoblastic leukemia;chronic myeloid leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'We determined whether the TEL-AML1 fusion gene can also be observed in continuous human leukemia cell lines with an early B-lineage phenotype.     ///    Occurrence of TEL-AML1 fusion resulting from (12;21) translocation in human early B-lineage leukemia cell lines..     ///    Twenty-nine such cell lines established from children (n = 13) or adults (n = 13) with early B-lineage ALL and five cell lines derived from chronic myeloid leukemia in blast crisis or B cell non-Hodgkin\'s lymphoma were investigated for the occurrence of the TEL-AML1 rearrangement by RT-PCR.     ///    \"though neither reciprocal AML1-TEL, nor normal TEL, mRNA was detectable by RT-PCR in this cell line. \"    ///    \"While all 13 adult early B-lineage ALL cell lines and the five cell lines from other leukemias or lymphomas were negative, 1/13 pediatric cell lines (cell line REH) was found to be positive for TEL-AML1. \"    ///    \"These findings in REH provide a further example of, and possible cytogenetic mechanism for, the paradigm of TEL-AML1 fusion accompanied by deletion of the residual TEL allele. \"    ///    \"Using mainly reverse transcriptase-polymerase chain reaction (RT-PCR), the TEL-AML1 chimeric transcript has been observed in 22-27% of pediatric patients with acute lymphoblastic leukemia (ALL), in particular in the early B-lineage ALL subtype, making it the most common genetic lesion in these patients. \"'), ('2415', 'WT1_EWSR1', 't(11;22)  / ', 'WT1', 'EWSR1', '24953786', '148', 'desmoplastic small round cell tumor \r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', '', 'Fluorescence in situ hybridization studies using an EWSR1 break-apart probe confirmed the presence of a rearrangement involving the EWSR1 locus and RT-PCR demonstrated the presence of an EWSR1-WT1 fusion transcript associated with the t(11;22) rearrangement, which supported a diagnosis of DSRCT.     ///    \"Fluorescence in situ hybridization studies using an EWSR1 break-apart probe confirmed the presence of a rearrangement involving the EWSR1 locus and RT-PCR demonstrated the presence of an EWSR1-WT1 fusion transcript associated with the t(11;22) rearrangement, which supported a diagnosis of DSRCT.\"'), ('2416', 'RARA_PLZF', 't(11;17)  / t(15;17)  / t(11;17) / ', 'RARA', 'PLZF', '8309256', '148', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'Recently the RAR alpha gene has been demonstrated to be involved in a novel fusion transcript (PLZF/RAR alpha) through a t(11;17) translocation.     ///    Poor response to all-trans retinoic acid therapy in a t(11;17) PLZF/RAR alpha patient..     ///    We describe here the second case of such a patient with a t(11;17)-PLZF/RAR alpha leukemic clone.     ///    These results suggest that the t(11;17) (PLZF/RAR alpha) case of this study was less responsive to ATRA therapy than t(15;17) (PML/RAR alpha) cases and raises the question of the definition of this novel AML subtype.. '), ('2417', 'EWSR1_DDIT3', 't(12;16)  / t(12;22) / t(12;22)  / ', 'EWSR1', 'DDIT3', '17647282', '147', 'liposarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', 'KB', '', 'A single tumor carrying a t(12;22) translocation expressed a hitherto unknown EWSR1-DDIT3 fusion transcript (13-3) linking the complete RNA-binding domain of EWSR1 with a short piece of the 5\'-UTR and the entire open reading frame of the DDIT3 gene.     ///    Nine FUS/DDIT3 and three EWSR1/DDIT3 variants of fusion transcripts have been described thus far.     ///    \"Using break-apart FISH and RT-PCR combined with DNA sequencing, we detected FUS/DDIT3 fusions in 30 sarcomas, while an EWSR1/DDIT3 translocation was identified in one tumor. \"    ///    Relevance of translocation type in myxoid liposarcoma and identification of a novel EWSR1-DDIT3 fusion.. '), ('2418', 'EWS_ERG', 't(16;21)  / t(16;21)(p11;q22) / t(12;16)(q13;p11) / ', 'EWS', 'ERG', '8187069', '147', 'liposarcoma;myeloid leukemia;leukemia;ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', '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.. '), ('2419', 'TEL_AML1', 't(12;21) / ', 'TEL', 'AML1', '19129484', '147', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', '', '', '', '', '', '', '', '', 'Among the tested samples, 25 were positive for the chromosomal translocation t(12;21), encoding the fusion gene translocation ETS-like leukemia/acute myeloid leukemia 1 (TEL/AML1).     ///    Cytotoxic T cells sensitized with leukemic DC produced more IFN-gamma and TNF-alpha upon presentation of the TEL/AML1 peptide.     ///    \"They also induced the cytotoxic lysis of nondifferentiated blasts, which was enhanced when TEL/AML1-positive DC had developed after addition of VAL or SAHA. \"    ///    \"Therefore, the use of HdI in the differentiation of leukemic DC from patients with TEL/AML1-positive ALL is recommended.. \"    ///    \"SAHA increased CD83 expression of TEL/AML1-positive blasts in conditions without ILs, and SAHA and VAL increased the number of CD86(+)80(-) cells in the presence of ILs. \"    ///    \"VAL and isobutyramid supported the allostimulatory capacities of TEL/AML1-positive, leukemic DC. \"    ///    VAL and SAHA reduced those of TEL/AML1-negative DC.     ///    Histone deacetylase inhibition improves differentiation of dendritic cells from leukemic blasts of patients with TEL/AML1-positive acute lymphoblastic leukemia.. '), ('2420', 'TPM3_ALK', 't(2;5)(p23;q35) / t(1;2)(q25;p23) / t(2;3)(p23;q21) / t(2;17)(p23;q23) / inv(2)(p23q35) / ', 'TPM3', 'ALK', '15208656', '147', '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. \"    ///    \"Moreover, our results show that the in vitro transforming capacity of NIH3T3-transfected cells are in relation to the level of X-ALK fusion proteins excepted for TPM3-ALK for which there is an inverse correlation.\"    ///    \"Moreover, our results show that the in vitro transforming capacity of NIH3T3-transfected cells are in relation to the level of X-ALK fusion proteins excepted for TPM3-ALK for which there is an inverse correlation. \"'), ('2421', 'ETO_AML1', 't(8;21)  / t(8;21)(q22;q22) / t(8;21) / ', 'ETO', 'AML1', '7514242', '147', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'AML1/ETO fusion transcripts were neither found in the PB and BM of a healthy individual, nor in the PB of a patient after allogeneic BMT for cytogenetically proven t(8;21)-leukemia.     ///    Our results indicate the presence of cells carrying the AML1/ETO rearrangement in the PB and BM of all patients in CHR after chemotherapy or ABMT for t(8;21)-positive AML.     ///    AML1/ETO fusion mRNA can be detected in remission blood samples of all patients with t(8;21) acute myeloid leukemia after chemotherapy or autologous bone marrow transplantation..     ///     The chromosomal translocation t(8;21)(q22;q22) in acute myeloid leukemia (AML) can be detected by a reverse transcription-polymerase chain reaction (RT-PCR) for the chimeric AML1/ETO transcript.     ///    \"AML1/ETO mRNA was also detected in the PB of two patients in CCR, 10 or 12 months after ABMT. \"'), ('2422', 'DEK_CAN', 't(8;21)  / t(9;22)  / t(6;9)  / ', 'DEK', 'CAN', '9458083', '147', 'acute myeloid leukemia;chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'In KG1 cells, the AML1-ETO hybrid gene [associated with the t(8;21) translocation of acute myeloid leukemia] occurred significantly more often than the BCR-ABL [associated with t(9;22) chronic myeloid leukemia] or the DEK-CAN [associated with t(6;9) acute myeloid leukemia] fusion genes. '), ('2423', 'CCNB3_BCOR', '', 'CCNB3', 'BCOR', '27180056', '147', 'desmoplastic small round cell tumor', 'FISH;PCR;RT-PCR ', '', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'The BCOR-CCNB3 gene fusion was observed in 5 tumors (2.5%) displaying round or spindle cells with strong CCNB3 IHC expression in 3 tumors.     ///    \"All tumors were tested for EWSR1-ETS, EWSR1/WT1, PAX3/7-FOX01 or SYT/SSX transcripts, and the negative tumors were subsequently analyzed for CIC/DUX4, BCOR/CCNB3 and CIC/FOX04 transcripts. \"    ///    \"The incidence of CIC-DUX4, BCOR-CCNB3 and CIC-FOX04 transcripts was relatively low. \"'), ('2424', 'ETO_AML1', 't(8;21)  / t(9;22)  / t(6;9)  / ', 'ETO', 'AML1', '9458083', '147', 'acute myeloid leukemia;chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'In KG1 cells, the AML1-ETO hybrid gene [associated with the t(8;21) translocation of acute myeloid leukemia] occurred significantly more often than the BCR-ABL [associated with t(9;22) chronic myeloid leukemia] or the DEK-CAN [associated with t(6;9) acute myeloid leukemia] fusion genes. '), ('2425', 'RARA_NPM', 't(5;17)  / t(5;17)(q32;q12) / t(2;5)  / t(15;17)  / t(11;17)  / ', 'RARA', 'NPM', '8562957', '147', 'acute promyelocytic leukemia;leukemia;lymphoma\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', '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.     ///    \"Both NPM-RAR transcripts fuse NPM and RARA sequence in the same reading frame, to generate translation products of 57 kD and 62 kD. \"    ///    \"In transcriptional assays using a retinoic acid response element reporter construct, both NPM-RAR fusion proteins act as retinoic acid-dependent transcriptional activators. \"'), ('2426', 'RAR_PL', 't(1;4) / p36.1;q31 / t(15;17)(q22;q21) / ', 'RAR', 'PL', '25759405', '147', '', '', '', '', '', '', '', '', '', ' The majority of patients with acute promyelocytic leukaemia (APL) carry the hallmark t(15;17)(q22;q21) translocation, involving the promyelocytic leukaemia/retinoic acid receptor-? (PML/RAR?) fusion gene, and by sensitivity of blast cells to all-trans retinoic acid (ATRA) and/or arsenic trioxide therapy. '), ('2427', 'MYH11_CBF', 't(9;22)(q34,q11) / p13;q22 / t(1;11)(p32;q23) /  / ', 'MYH11', 'CBF', '7723408', '147', 'leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Following this strategy we were able to synthesize the fusion transcripts m-BCR/ABL, CBF beta/MYH11, and MLL/AFp1 which are the molecular equivalents of t(9;22)(q34,q11), inv16(p13;q22) and t(1;11)(p32;q23), respectively. '), ('2428', 'FLI_EWS', 't(11;22)(q24;q12) / t(11;22) / t(11;22)  / ', 'FLI', 'EWS', '9559290', '147', 'neuroectodermal tumor\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In conclusion, the detection of t(11;22) and EWS/FLI-1 fusion transcripts is considered to provide a novel adjunctive method for diagnosing renal PNET.     ///    \"The reverse transcriptase-polymerase chain reaction (RT-PCR) in both tumors demonstrated EWS/ FLI-1 fusion transcripts, representing the molecular equivalent of t(11;22). \"'), ('2429', 'ETO_AML1', 't(8;21)  / t(8;21)(q22;q22) / t(8;21) / ', 'ETO', 'AML1', '7507193', '146', 'leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Detection of AML1/ETO fusion transcript as a tool for diagnosing t(8;21) positive acute myelogenous leukemia..     ///    Reverse transcription polymerase chain reaction (RT-PCR) can be used to amplify the breakpoint site of AML1/ETO in t(8;21)-positive AML-M2 patients.     ///    These results indicate that RT-PCR amplification of the AML1/ETO fusion transcript is a powerful tool for diagnosing and monitoring minimal residual disease in AML-M2 patients..     ///    \"The breakpoint of this translocation has been cloned and characterized, and fusion transcript AML1/ETO has been identified. \"'), ('2430', 'USP6_CDH11', 't(16;17)(q22;p13) / t(16;17)  / ', 'USP6', 'CDH11', '15026324', '146', 'bone cyst\r\r', '', '', '', '', '', '', '', '', 'CDH11-USP6 fusion transcripts were demonstrated only in ABC with t(16;17) but other ABCs had CDH11 or USP6 rearrangements resulting from alternate cytogenetic mechanisms. '), ('2431', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '18028420', '146', 'eosinophilic leukemia', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Several reports of successful empirical treatment of idiopathic hypereosinophilic syndrome with imatinib led to the recent identification of the FIP1L1-PDGFRA fusion gene rearrangement, which characterizes a distinctive group of chronic eosinophilic leukemias.     ///    \"We report here the only third case of synchronous chronic eosinophilic leukemia and T-LBL, both associated with a FIP1L1-PDGFRA fusion transcript, confirming the occurrence of such disease and suggesting a clonal proliferation with two lines of differentiation probably arising from a primitive multipotent medullary stem cell.. \"    ///    \"Furthermore, the same FIP1L1-PDGFRA rearrangement was identified in patients with hypereosinophilia and atypical mast cell proliferations, raising the question of a disease with two concomitant lines of differentiation. \"');
INSERT INTO `ChimerPub_dump` VALUES ('2432', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '21036922', '146', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'The novel gene fusions are found to be of low frequency, but, interestingly, the non-ETS fusions were all present in prostate cancer harboring the TMPRSS2-ERG gene fusion. '), ('2433', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '17032499', '146', 'prostate cancer;prostatic intraepithelial neoplasia\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2-ERG gene fusion causing ERG overexpression precedes chromosome copy number changes in prostate carcinomas and paired HGPIN lesions..     ///    \"To determine the relative order of genetic events in prostate carcinogenesis, we have analyzed 34 prostate carcinomas, 19 paired HGPIN lesions, 14 benign prostate hyperplasias, and 11 morphologically normal prostatic tissues for TMPRSS2-ERG and TMPRSS2-ETV1 rearrangements and genomic imbalances. \"'), ('2434', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '20478527', '146', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'An integrated network of androgen receptor, polycomb, and TMPRSS2-ERG gene fusions in prostate cancer progression..     ///    These findings provide a working model in which TMPRSS2-ERG plays a critical role in cancer progression by disrupting lineage-specific differentiation of the prostate and potentiating the EZH2-mediated dedifferentiation program.. '), ('2435', 'ETO_AML1', 't(8;21) / t(8;21)(q22;q22) / t(8;21)  / ', 'ETO', 'AML1', '7828132', '146', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Use of the polymerase chain reaction in the detection of AML1/ETO fusion transcript in t(8;21)..     ///    \"As the junction of AML1/ETO appears to be constant, RT-PCR may offer a quick and accurate diagnosis of t(8;21).. \"    ///    \" t(8;21)(q22;q22), found in acute myeloid leukemia (AML) and occasionally in myelodysplasia (MDS), results in the fusion of the AML1 gene on 22q22 to the ETO gene on 8q22, generating a chimeric AML1/ETO transcript, which is a molecular marker of the translocation. \"    ///    \"Reverse transcription-polymerase chain reaction (RT-PCR), with two pairs of nested AML1 and ETO primers, was used to amplify the AML1/ETO fusion transcript. \"'), ('2436', 'ETO_AML1', 't(8;21) / t(8;21)  / ', 'ETO', 'AML1', '8455949', '146', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Expression of AML1-ETO fusion transcripts and detection of minimal residual disease in t(8;21)-positive acute myeloid leukemia.. '), ('2437', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '21377967', '146', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2-ERG is the most common gene fusion type.     ///    The ERG overexpression induced by TMPRSS2-ERG gene fusion contributes to the development of prostate cancer.     ///    \"TMPRSS2-ERG gene fusion functions as a biomarker for prostate cancer, which can be easily detected in urine. \"'), ('2438', 'FLI_EWS', 't(11;22) (q24;q12) / t(11;22)  / ', 'FLI', 'EWS', '7533989', '146', 'ewing sarcoma', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'By reverse transcription and polymerase chain reaction technique (RT-PCR) in 78% of Ewings sarcoma derived cell lines, and in 91% of primary Ewings tumor tissue t(11;22) specific EWS/FLI-1 fusion transcripts were detected. '), ('2439', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23578236', '146', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Real-time quantitative polymerase chain reaction analysis and in some cases DNA sequencing was used to validate the presence and the expression levels of TMPRSS2-ERG gene fusions.     ///    In our series of patients with prostate cancer over expression of the ERG gene predicted the presence of TMPRSS2-ERG rearrangements in almost all cases.     ///    The expression level of the TMPRSS2-ERG gene was studied in various histological grades of prostate cancer and castration-resistant prostate cancer (CPRC).     ///    \" To assess whether oestrogen-regulated gene (ERG) expression analysis using GeneChip arrays can predict transmembrane protease, serine 2 (TMPRSS2)-ERG fusion. \"'), ('2440', 'TEL_AML1', 't(12;21) / t(12;21)  / ', 'TEL', 'AML1', '9207408', '146', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Minimal residual disease with TEL-AML1 fusion transcript in childhood acute lymphoblastic leukaemia with t(12;21)..     ///    We analysed the TEL-AML1 transcript using reverse transcription-polymerase chain reaction (RT-PCR) in order to detect minimal residual disease (MRD) in seven children with t(12;21)-associated B-lineage ALL.     ///    \"Leukaemic cells with the TEL-AML1 transcript appear to be very sensitive to chemotherapy, and may be eradicated in most patients if adequate chemotherapy is given. \"'), ('2441', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23625457', '146', 'prostate cancer;sarcoma\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'The recent discovery of a recurrent gene fusion TMPRSS2-ERG in approximately half of the prostate cancers tested indicates that gene fusions also play a role in the onset of common epithelial cancers. '), ('2442', 'PAX3_FKHR', 't(2;13)(q35;q14) / t(1;13)(p36;q14) / ', 'PAX3', 'FKHR', '17311532', '146', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'These translocations form PAX3-FKHR and PAX7-FKHR gene fusions, which encode chimeric transcription factors.     ///    \"This review highlights recent advances in numerous areas of biomedical investigation that are providing new insights into the biology, molecular pathology, and translational science of ARMS: the identification of downstream targets of PAX3-FKHR and collaborating events in the process of tumorigenesis and metastasis. \"'), ('2443', 'PAX7_FKHR', 't(2;13)(q35;q14) / t(1;13)(p36;q14) / ', 'PAX7', 'FKHR', '17311532', '146', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'These translocations form PAX3-FKHR and PAX7-FKHR gene fusions, which encode chimeric transcription factors. '), ('2444', 'PDGFRB_CPSF6', 't(5;17)(q33;p11) / t(5;12)(q33;q15) / t(3;5)(q13;q33) / ', 'PDGFRB', 'CPSF6', '26355392', '145', '', 'PCR', 'Kinase', '', '', 'Receptor', '', '', '', 'We here report the identification of three new PDGFRB fusion genes in three male MPN-eo patients: MPRIP-PDGFRB in a case with t(5;17)(q33;p11), CPSF6-PDGFRB in a case with t(5;12)(q33;q15), and GOLGB1-PDGFRB in a case with t(3;5)(q13;q33). '), ('2445', 'PDGFRB_GOLGB1', 't(5;17)(q33;p11) / t(5;12)(q33;q15) / t(3;5)(q13;q33) / ', 'PDGFRB', 'GOLGB1', '26355392', '145', '', 'PCR', 'Kinase', '', '', 'Receptor', '', '', '', 'We here report the identification of three new PDGFRB fusion genes in three male MPN-eo patients: MPRIP-PDGFRB in a case with t(5;17)(q33;p11), CPSF6-PDGFRB in a case with t(5;12)(q33;q15), and GOLGB1-PDGFRB in a case with t(3;5)(q13;q33). '), ('2446', 'TCF3_PBX1', 't(1;19)(q23;p13) / t(1;19) / t(1;19)  / ', 'TCF3', 'PBX1', '17593026', '145', '', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Characterisation of genomic translocation breakpoints and identification of an alternative TCF3/PBX1 fusion transcript in t(1;19)(q23;p13)-positive acute lymphoblastic leukaemias..     ///    \"We here report an alternative TCF3/PBX1 transcript, fusing exon 17 of TCF3 with exon 5 of PBX1, in a paediatric t(1;19)-positive ALL. \"    ///    \"Hence, ALLs with t(1;19) that test negative for TCF3/PBX1 should be analysed further before excluding this alternative fusion. \"    ///    \"Furthermore, we have characterised the genomic translocation breakpoints in eight TCF3/PBX1-positive ALLs. \"'), ('2447', 'PDGFRB_MPRIP', 't(5;17)(q33;p11) / t(5;12)(q33;q15) / t(3;5)(q13;q33) / ', 'PDGFRB', 'MPRIP', '26355392', '145', '', 'PCR', 'Kinase', '', '', 'Receptor', '', '', '', 'We here report the identification of three new PDGFRB fusion genes in three male MPN-eo patients: MPRIP-PDGFRB in a case with t(5;17)(q33;p11), CPSF6-PDGFRB in a case with t(5;12)(q33;q15), and GOLGB1-PDGFRB in a case with t(3;5)(q13;q33). '), ('2448', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '20632833', '144', 'dermatofibrosarcoma protuberans;sarcoma\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', '', 'KB', '', 'Fibrosarcomatous variant of dermatofibrosarcoma protuberans showing COL1A1-PDGFB gene fusion, detected using a novel and disease-specific RT-PCR protocol.. '), ('2449', 'LPP_HMGA2', 't(3;12)(q27;q15) / ', 'LPP', 'HMGA2', '14614053', '144', 'chondrosarcoma;sarcoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'One soft tissue chondroma had a t(3;12)(q27;q15), and the RT-PCR analysis revealed an HMGA2-LPP fusion transcript, composed of HMGA2 exons 1-3 and LPP exons 9-11.     ///    \"One soft tissue chondroma had a t(3;12)(q27;q15), and the RT-PCR analysis revealed an HMGA2-LPP fusion transcript, composed of HMGA2 exons 1-3 and LPP exons 9-11.\"'), ('2450', 'STAT6_NAB2', '', 'STAT6', 'NAB2', '24513261', '144', 'hemangiopericytoma', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Solitary fibrous tumors/hemangiopericytomas with different variants of the NAB2-STAT6 gene fusion are characterized by specific histomorphology and distinct clinicopathological features..     ///    \"Herein, we evaluated a cohort of 52 SFTs/hemangiopericytomas (HPCs) by whole-exome sequencing (one case) and multiplex RT-PCR (all 52 cases), and identified 12 different NAB2-STAT6 fusion variants in 48 cases (92%). \"'), ('2451', 'EML4_ALK', '', 'EML4', 'ALK', '23928533', '144', 'non small cell lung cancer;squamous cell carcinoma;non small cell lung cancer\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Female, non-smoker and adenocarcinoma histological subtype tend to be associated with a higher rate of EML4-ALK gene fusion..    ///    \"Female, non-smoker and adenocarcinoma histological subtype tend to be associated with a higher rate of EML4-ALK gene fusion.. \"    ///    [Detection of EML4-ALK fusion gene in non-small cell lung cancer and its clinicopathologic correlation]..     ///    \" To investigate the frequency of EML4-ALK fusion gene in non-small-cell lung cancer (NSCLC) patients, and its correlation with clinicopathologic features. \"    ///    EML4-ALK fusion gene was found in 4.1% (11/268) of the cases.     ///    Chinese NSCLC patients have a 4.1% detection rate of EML4-ALK fusion gene in the tumor tissues.     ///    Real-time PCR was used to detect the presence of EML4-ALK fusion gene in 268 cases of NSCLCs using paraffin-embedded tissue samples(among which 164 samples were re-validated by Sanger sequencing). '), ('2452', 'STAT6_NAB2', '', 'STAT6', 'NAB2', '24807787', '144', '', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Recently, recurrent gene fusions involving NAB2-STAT6 resulting in differential expression of STAT6 were characterized as central molecular events in SFT.     ///    \"However, no data exist for NAB2-STAT6 status or STAT6 expression in SN-HPC. \"    ///    \"However, no data exist for NAB2-STAT6 status or STAT6 expression in SN-HPC.\"    ///    RT-PCR analysis confirmed the absence of NAB2-STAT6 fusions in all cases.     ///    We examined six SN-HPCs and two sinonasal SFTs by immunohistochemistry and RT-PCR for NAB2-STAT6 fusions.     ///    RT-PCR revealed NAB2-STAT6 fusions in both cases. '), ('2453', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '9164192', '144', 'rhabdomyosarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' We evaluated the clinical features of the common PAX3-FKHR and variant PAX7-FKHR gene fusions observed in rhabdomyosarcoma.     ///    \"The PAX3-FKHR and PAX7-FKHR gene fusions were present in tumors from 18 and 16 patients, respectively. \"    ///    \"In patients with metastatic disease at diagnosis, the patterns were different: PAX7-FKHR patients had metastatic disease that involved only bone (n = 2) and distant nodes (n = 2), while the PAX3-FKHR group had multiple sites involved, including bone (n = 7), marrow (n = 7), lungs (n = 3), distant nodes (n = 2), skin (n = 1), and brain (n = 1). \"    ///    PAX7-FKHR tumors were more often localized than PAX3-FKHR tumors (P = .03).     ///    Our results suggest that the common PAX3-FKHR and the variant PAX7-FKHR fusions are associated with distinct clinical phenotypes. '), ('2454', 'PAX7_FKHR', '', 'PAX7', 'FKHR', '9164192', '144', 'rhabdomyosarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' We evaluated the clinical features of the common PAX3-FKHR and variant PAX7-FKHR gene fusions observed in rhabdomyosarcoma.     ///    \"The PAX3-FKHR and PAX7-FKHR gene fusions were present in tumors from 18 and 16 patients, respectively. \"    ///    \"In patients with metastatic disease at diagnosis, the patterns were different: PAX7-FKHR patients had metastatic disease that involved only bone (n = 2) and distant nodes (n = 2), while the PAX3-FKHR group had multiple sites involved, including bone (n = 7), marrow (n = 7), lungs (n = 3), distant nodes (n = 2), skin (n = 1), and brain (n = 1). \"    ///    A trend toward improved overall survival in the PAX7-FKHR group was noted (P = .09).     ///    Event-free survival for this PAX7-FKHR group was significantly longer (P = .04).     ///    PAX7-FKHR tumors were more often localized than PAX3-FKHR tumors (P = .03).     ///    Our results suggest that the common PAX3-FKHR and the variant PAX7-FKHR fusions are associated with distinct clinical phenotypes.     ///    The group with a PAX7-FKHR fusion was younger (P = .01) and presented more often with an extremity lesion (82% v 22%. '), ('2455', 'LHFP_HMGIC', 't(3;12)  / t(12;14) / t(12;13) / ', 'LHFP', 'HMGIC', '11890997', '144', '', '', '', '', '', '', '', '', '', 'Very recently, an HMGIC-LHFP (lipoma HMGIC fusion partner) fusion gene has been detected in a lipoma with a t(12;13).     ///    The results of the present study demonstrated the absence of the HMGIC-LHFP fusion in three pulmonary chondroid hamartomas (PCH) with complex aberrations involving chromosomal regions 12q13 through q15 and 13q12q through q14 and one PCH with a simple t(12;13)(q14 through 15;q13) by reverse transcription-polymerase chain reaction.     ///    Absence of HMGIC-LHFP fusion in pulmonary chondroid hamartomas with aberrations involving chromosomal regions 12q13 through 15 and 13q12 through q14.. '), ('2456', 'EVI1_AML1', 't(9;22) / t(9;22)  / ', 'EVI1', 'AML1', '8656667', '144', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The blast crisis of CML has been variably associated with abnormalities of proto-oncogenes, such as RAS and MYC, or of tumour suppressor genes, in particular RB, p53 and p16, or with the generation of chimeric transcription factors, as in the AML1-EVI1 gene fusion. '), ('2457', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '24115205', '144', 'prostate cancer\r\r', 'PCR', '', '', '', '', '', 'KB', 'Seq', 'Quality assessment was conducted using spectrophotometric analysis and RNA was analyzed for RNA integrity number (RIN) and by real-time reverse-transcription PCR (qRT-PCR) for racemase, hepsin, ERG, TMPRSS2-ERG gene fusions, and the microRNAs miR-26a, miR-26b, miR-141, and miR-221. '), ('2458', 'TFE3_PSF', '', 'TFE3', 'PSF', '25582502', '144', 'kidney cancer', '', '', '', '', '', '', '', '', ' Xp11.2 translocation renal cell carcinoma (Xp11.2 RCC) with PSF-TFE3 gene fusion is a rare neoplasm.     ///    A case of PSF-TFE3 gene fusion in Xp11.2 renal cell carcinoma with melanotic features..     ///    We describe an additional case of Xp11.2 RCC with PSF-TFE3 showing melanotic features.     ///    Xp11.2 RCC with PSF-TFE3 inevitably requires differentiation from other kidney neoplasms.     ///    Only 22 cases of Xp11.2 RCCs with PSF-TFE3 have been reported to date.     ///    \"Genetically, we demonstrated PSF-TFE3 fusion between exon 9 of PSF and exon 5 of TFE3. \"'), ('2459', 'TEL_AML1', 't(12;21) (p13;q22) / ', 'TEL', 'AML1', '11529845', '144', '', 'PCR', '', '', '', '', '', '', '', 'The TEL-AML1 fusion transcript, which is associated with t(12;21) (p13;q22), is found in 25% of childhood B-cell precursor ALL, and represents an interesting alternative target.     ///    We compared two methods for quantitating TEL-AML1 fusion transcripts: competitive PCR and real-time PCR.     ///    \"When comparison was possible, results obtained using TEL-AML1 quantification were in accordance with those obtained using T-cell receptor rearrangements analysis.. \"    ///    \"The constancy of TEL-AML1 expression was evaluated by measuring TEL-AML1 transcripts at different steps of the cell cycle, and in 21 cases of ALL at diagnosis. \"    ///    \"Giving highly correlated results, both techniques can be conveniently used for TEL-AML1 transcript quantification. \"    ///    Quantification of TEL-AML1 transcript for minimal residual disease assessment in childhood acute lymphoblastic leukaemia..     ///    No major variation in TEL-AML1 expression was observed during the cell cycle or in 20/21 of the ALL patients. '), ('2460', 'SUZ12_JAZF1', '', 'SUZ12', 'JAZF1', '24696722', '144', 'endometrial stromal tumor\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', '', 'RT-PCR analysis confirmed the absence of JAZF1-SUZ12 gene fusion, supporting the histopathological diagnosis of UTROSCT rather than ESTSCLE. '), ('2461', 'EML4_ALK', '', 'EML4', 'ALK', '26829319', '144', 'adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We also resolve the structure of the EML4-ALK gene fusion in the NCI-H2228 cancer cell line using phased exome sequencing. '), ('2462', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '19644960', '144', 'prostate cancer\r\r', 'PCR', '', '', '', '', '', 'KB', 'Seq', 'The neoplastic nature of the cells was verified by detection of the TMPRSS2/ERG gene fusion expression. '), ('2463', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '26011342', '144', 'prostate cancer\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', 'Seq', 'PCA3 overexpression, GSTP1 promoter hyper-methylation, TMPRSS2-ERG gene fusions, IVS1-27G>A in the KLF6 gene and mutations in androgen receptor (AR) gene, for diagnostic purposes were assessed. '), ('2464', 'TPO_SCF', '', 'TPO', 'SCF', '15946503', '144', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The expression plasmid pET32a/SCF-TPO was constructed by VOE gene fusion technique and expressed in E.     ///    Expressed SCF-TPO fusion protein after renaturation has biological activity in promoting the proliferation of MO7e cells..     ///    The biological functions of SCF-TPO fusion protein in MO7e cells was investigated by MTT method after purification with metal chelating chromatography.     ///    \"The high expression SCF-TPO fusion protein was obtained, reaching up to 30% of the total cellular protein. \"    ///    \"Western blot verified the correct fusion expression and MTT results showed the growth promoting effect of the SCF-TPO fusion protein on MO7e cells, with a higher promoting activity at 100 ng/ml. \"'), ('2465', 'STAT6_NAB2', '', 'STAT6', 'NAB2', '26686340', '144', 'angiofibroma;solitary fibrous tumor', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' NAB2-STAT6 gene fusion drives STAT6 nuclear expression and is the pathognomonic hallmark of solitary fibrous tumors (SFTs).     ///    The clinicopathological significance of NAB2-STAT6 gene fusions in 52 cases of intrathoracic solitary fibrous tumors..     ///    \"However, no study has systematically analyzed the clinicopathological features, STAT6 immunoexpression status, or the fusion variants of NAB2-STAT6 in intrathoracic SFTs. \"    ///    \"Fifty-two intrathoracic SFTs were retrieved to appraise histopathology, assess STAT6 immunoexpression, and determine NAB2-STAT6 fusion variants by RT-PCR. \"    ///    \"However, clinical aggressiveness is associated with atypical/malignant histology primarily contributed by increased mitosis but was unrelated to the NAB2-STAT6 fusion variants. \"    ///    NAB2-STAT6 fusion was detected in 34 SFTs. '), ('2466', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '26665675', '144', 'prostate cancer\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2:ERG gene fusion was associated with higher pathological grades of prostate cancer..     ///     To study the relationship between TMPRSS2: ERG gene fusion and the pathological grade of prostate cancer (PCa).     ///    \"The TMPRSS2: ERG fusion gene was detected in 28 (45.16%) of the PCa cases, but in none of the 10 BPH cases or the 9 cancer cell strains. \"    ///    \"We examined the TMPRSS2:ERG fusion gene in the PCa samples by nest RT-PCR, compared the Gleason scores between the TMPRSS2:ERG-positive and -negative cases, and analyzed the association of TMPRSS2: ERG fusion with the pathological features of PCa. \"    ///    [Relationship between TMPRSS2: ERG and the pathological grade of prostate cancer]..     ///    \"No statistically significant differences were found in the Gleason scores between the TMPRSS2:ERG-positive and -negative cases (Z = -0.609, P = 0.542), but the primary Gleason score was markedly higher in the former than in the latter (Z = -2.600, P = 0.009). \"    ///    \"Univariate logistic regression analysis showed that TMPRSS2:ERG was associated with the cribriform growth pattern (OR = 6.250, P = 0.002), foamy gland morphology (OR = 6.666, P = 0.023), and signet-ring cells (OR = 3.240, P = 0.035), but multivariate logistic regression analysis manifested that it was associated with the cribriform growth pattern only (OR = 3.750, P = 0.033). \"'), ('2467', 'NFIB_AIG1', 't(6;9)  / ', 'NFIB', 'AIG1', '21976542', '144', 'adenoid cystic carcinoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Massive pair-end sequencing of a subset of tumors confirmed the proximal translocation to an NFIB sequence and led to the identification of a new fusion gene (NFIB-AIG1) in one of the tumors. '), ('2468', 'MYH11_CBFB', '', 'MYH11', 'CBFB', '16502584', '144', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Here we describe protocols for the qualitative and quantitative detection of leukemic cells that are characterized by a CBFB-MYH11 gene fusion.. '), ('2469', 'STAT6_NAB2', '', 'STAT6', 'NAB2', '27039712', '144', 'solitary fibrous tumor\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'NAB2-STAT6 gene fusion and STAT6 immunoexpression in extrathoracic solitary fibrous tumors: the association between fusion variants and locations..     ///    \" Solitary fibrous tumor (SFT) is a rare mesenchymal neoplasm harboring NAB2-STAT6 fusion, which drives STAT6 nuclear relocation. \"    ///    The clinical aggressiveness of extrathoraic SFTs is associated with malignant histology but unrelated to the NAB2-STAT6 fusion variants. '), ('2470', 'NFIB_MYB', '', 'NFIB', 'MYB', '21901247', '144', 'adenoid cystic carcinoma;adenocarcinoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', '', 'Studies of genomic imbalances and the MYB-NFIB gene fusion in polymorphous             low-grade adenocarcinoma of the head and neck..     ///    \"RT-PCR analysis             revealed that one of the 9 PLGAs expressed the ACC-associated MYB-NFIB gene fusion,             illustrating the diagnostic difficulties associated with the diagnosis of these             morphologically partly overlapping entities. \"    ///    Because of the well-known morphologic             similarities between PLGA and adenoid cystic carcinoma (ACC) we also analyzed             all tumors for expression of the recently identified ACC-associated MYB-NFIB gene             fusion. '), ('2471', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '25753984', '144', 'prostate cancer\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', 'Seq', 'PCA3 overexpression, TMPRSS2-ERG gene fusion, GSTP1 promoter hypermethylation, somatic mutations in the AR gene and the IVS1-27G > A polymorphism in the KLF6 gene were studied.     ///    The TMPRSS2-ERG positive status correlates with moderate to poorly differentiated prostate tumors and it is considered as unfavorable disease predictor. '), ('2472', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '24297949', '144', 'prostate cancer;prostatic intraepithelial neoplasia\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2:ERG gene fusion predicts subsequent detection of prostate cancer in patients with high-grade prostatic intraepithelial neoplasia.. '), ('2473', 'NTRK3_ETV6', '', 'NTRK3', 'ETV6', '24585770', '144', 'salivary gland cancer\r\r', 'PCR;RT-PCR', 'Kinase', '', '', '', '', 'KB', 'Seq', ' Mammary analogue secretory carcinoma (MASC) is a recently described salivary gland neoplasm that is defined by ETV6-NTRK3 gene fusion. '), ('2474', 'FUS_ERG', 't(16;21) / p11.2;q22 / ', 'FUS', 'ERG', '20620604', '144', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;leukemia\r\r', 'RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Although more clinical studies are necessary, we believe that a possible association between ALL and a specific type of FUS-ERG fusion transcript might be considered, especially in childhood cases with t(16;21)..     ///     We report two childhood cases of acute leukemia with t(16;21)(p11.2;q22) and FUS-ERG rearrangements.     ///    \"Chromosome study showed a t(16;21)(p11.2;q22) clone in more than one third of the cells analyzed, and further investigation with reverse-transcriptase polymerase chain reaction, cloning, and sequencing confirmed FUS-ERG rearrangement (type B). \"    ///    Two childhood cases of acute leukemia with t(16;21)(p11.2;q22): second case report of infantile acute lymphoblastic leukemia with unusual type of FUS-ERG chimeric transcript..     ///    \"Further studies for the detection of a FUS-ERG chimeric transcript were conducted, and an unusual type of FUS-ERG rearrangement was discovered, which has been reported in only three patients including a 1-year-old infant with ALL. \"'), ('2475', 'FUS_ERG', 't(16;21)(p11;q22) / t(12;16) (q13;p11) / t(12;22;20)(q13;q12;q11) / t(12;16)  / ', 'FUS', 'ERG', '9315104', '143', 'acute myeloid leukemia;liposarcoma;myeloid leukemia;leukemia;sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', ' 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.     ///    \"Characteristic sequence motifs at the breakpoints of the hybrid genes FUS/CHOP, EWS/CHOP and FUS/ERG in myxoid liposarcoma and acute myeloid leukemia.. \"'), ('2476', 'NTRK3_ETV6', '', 'NTRK3', 'ETV6', '12652616', '143', 'sarcoma\r\r', 'PCR;RT-PCR', 'Kinase', '', '', '', '', 'KB', 'Seq', 'In each patient, the ETV6-NTRK3 gene fusion was identified by reverse transcriptase-polymerase chain reaction (RT-PCR) in the tumor specimens.     ///    \"In each patient, the ETV6-NTRK3 gene fusion was identified by reverse transcriptase-polymerase chain reaction (RT-PCR) in the tumor specimens.\"    ///    Our findings suggest that the ETV6-NTRK3 gene fusion may underlie the distinctive biological properties of these tumors and may also indicate tumor chemosensitivity.     ///    Non-resectable congenital tumors with the ETV6-NTRK3 gene fusion are highly responsive to chemotherapy..     ///    \" Recently, the ETV6-NTRK3 gene fusion has been identified in both infantile fibrosarcoma and cellular mesoblastic nephroma. \"'), ('2477', 'PAX7_FKHR', 't(2;13)(q35;q14) / ', 'PAX7', 'FKHR', '11452933', '143', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Two further ARMS cases revealed a PAX3-FKHR and a variant PAX7-FKHR fusion gene product that were not detected cytogenetically. '), ('2478', 'PAX3_FKHR', 't(2;13)(q35;q14) / ', 'PAX3', 'FKHR', '11452933', '143', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Two further ARMS cases revealed a PAX3-FKHR and a variant PAX7-FKHR fusion gene product that were not detected cytogenetically. '), ('2479', 'EWS_CHOP', 't(16;21)(p11;q22) / t(12;16) (q13;p11) / t(12;22;20)(q13;q12;q11) / t(12;16)  / ', 'EWS', 'CHOP', '9315104', '143', 'acute myeloid leukemia;liposarcoma;myeloid leukemia;leukemia;sarcoma\r\r', '', '', '', '', '', '', '', '', ' 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 MLS with the EWS/ CHOP hybrid gene, the break in intron 7 of EWS had occurred close to an Alu sequence. \"    ///    \"Characteristic sequence motifs at the breakpoints of the hybrid genes FUS/CHOP, EWS/CHOP and FUS/ERG in myxoid liposarcoma and acute myeloid leukemia.. \"'), ('2480', 'NCOA2_HEY1', '', 'NCOA2', 'HEY1', '25907264', '143', 'chondrosarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', 'We demonstrate histopathological findings and confirm the HEY1-NCOA2 gene fusion in a formalin-fixed paraffin-embedded archival sample using simple reverse transcription polymerase chain reaction (RT-PCR) method.     ///    Recently identified HEY1-NCOA2 and IRF2BP2-CDX1 gene fusions confirm their distinct molecular origin and pose a promising diagnostic marker.    ///    Recently identified HEY1-NCOA2 and IRF2BP2-CDX1 gene fusions confirm their distinct molecular origin and pose a promising diagnostic marker. '), ('2481', 'MECT1_MAML2', 't(11;19)(q21;p13) / t(11;19) / t(11;19)  / ', 'MECT1', 'MAML2', '15269296', '143', 'mucoepidermoid carcinoma;salivary gland neoplasm', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Since this translocation has been recently shown to generate a MECT1-MAML2 fusion gene, we evaluated 10 primary MEC and seven primary WT to further define the molecular association of these two entities using cytogenetic, as well as in situ hybridization (ISH) and reverse transcriptase-polymerase chain reaction (RT-PCR) analyses directed against the fusion gene.     ///    \"Since this translocation has been recently shown to generate a MECT1-MAML2 fusion gene, we evaluated 10 primary MEC and seven primary WT to further define the molecular association of these two entities using cytogenetic, as well as in situ hybridization (ISH) and reverse transcriptase-polymerase chain reaction (RT-PCR) analyses directed against the fusion gene.\"    ///    \"Neither the t(11;19) nor MECT1-MAML2 was detected in any case of WT, nor in control samples from polymorphous low-grade adenocarcinoma, acinic cell carcinoma, or normal parotid gland tissue. \"    ///    \"In contrast, we did not detect the t(11;19) nor MECT1-MAML2 expression in seven cases of WT.. \"    ///    \"In contrast, we did not detect the t(11;19) nor MECT1-MAML2 expression in seven cases of WT..\"    ///    We have demonstrated that ISH and RT-PCR are sensitive methods for detecting MECT1-MAML2 in MEC.     ///    RT-PCR analysis confirmed the expression of the MECT1-MAML2 gene in all MEC cases that were positive by ISH analysis.     ///    A study of MECT1-MAML2 in mucoepidermoid carcinoma and Warthin\'s tumor of salivary glands.. '), ('2482', 'TEL_AML1', 't(12;21)  / t(12;21) / ', 'TEL', 'AML1', '10534771', '143', 'leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In 12 samples from t(12;21)-positive patients at diagnosis, the levels of the TEL-AML1 fusion transcripts were found to vary up to 14-fold after normalization to beta2M.     ///    Rapid and sensitive minimal residual disease detection in acute leukemia by quantitative real-time RT-PCR exemplified by t(12;21) TEL-AML1 fusion transcript..     ///    \"We then optimized PCR primers for the RQ-PCR system and, using the t(12;21)+ REH cell line in spiking experiments, found a linear detection of TEL-AML1 over at least five logs. \"    ///    We initially determined the expression of the different alternatively spliced TEL-AML1 mRNAs found in t(12;21) breakpoint variants I and II.     ///    \"Interestingly, in samples obtained from seven patients at diagnosis, during induction chemotherapy, or relapse, the level of TEL-AML1 in peripheral blood (PB) and bone marrow (BM) was found to differ only by threefold, suggesting that MRD may be evaluated in PB samples in most patients. \"'), ('2483', 'RN28S1_BCL11B', 't(6;14)(q25;q32) / ', 'RN28S1', 'BCL11B', '24504345', '143', 'leukemia;multiple myeloma;sarcoma;hematologic malignancy\r\r', 'PCR', '', '', '', '', '', '', '', 'The RN28S1-BCL11B fusion transcript was identified in a case with mixed-lineage (T/myeloid) acute leukemia having t(6;14)(q25;q32) by cDNA bubble PCR using BCL11B primers. '), ('2484', 'MYH11_CBFB', 'inv(16) / t(16;16)  / ', 'MYH11', 'CBFB', '17287858', '143', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Rare CBFB-MYH11 fusion transcripts in AML with inv(16)/t(16;16) are associated with therapy-related AML M4eo, atypical cytomorphology, atypical immunophenotype, atypical additional chromosomal rearrangements and low white blood cell count: a study on 162 patients..     ///     The spectrum of CBFB-MYH11 fusion transcripts in acute myeloid leukemia (AML) M4eo with inv(16)/t(16;16) is heterogeneous.     ///    \"In total, 128 patients (79.0%) showed the fusion transcript type A, whereas nine different rare CBFB-MYH11 fusion genes were detected in 34 cases (21.0%). \"    ///    Approximately 85% show type A CBFB-MYH11 fusion transcripts.     ///    \"In this study, a molecular characterization of CBFB-MYH11 transcripts in 162 patients with CBFB-MYH11 positive AML at diagnosis was performed. \"'), ('2485', 'SYT_SSX', '', 'SYT', 'SSX', '10594136', '143', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The diagnosis was confirmed by demonstration of the characteristic SYT/SSX gene fusion by reverse transcriptase polymerase chain reaction (RT-PCR) performed upon RNA extracted from the paraffin block of the biopsy. '), ('2486', 'MSI2_EVI1', 't(3;17)  / t(3;17)(q26;q22) / t(3;17) / ', 'MSI2', 'EVI1', '18815193', '143', 'acute myeloid leukemia', '', '', '', '', '', '', '', '', 'Expression analyses failed to demonstrate ectopic MSI2 expression or the presence of an MSI2/EVI1 fusion gene. '), ('2487', 'MOZ_CBP', 'inv(8)(p11q13) / t(8;16)(p11;p13) / t(8;16) / inv(8)  / inv(8) / ', 'MOZ', 'CBP', '11342350', '143', '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. '), ('2488', 'FUS_CHOP', '16p11.2 / ', 'FUS', 'CHOP', '10809905', '143', 'liposarcoma', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'p11), leading to a FUS-CHOP fusion transcript in myxoid LPS, and the low or absent expression of the LRP-gene located on 16p11.2..     ///    \"This study investigates the relationship between the cytogenetically detected breakpoint 16p11 in myxoid LPS, the presence of the FUS-CHOP fusion transcript in nonmyxoid LPS and the expression of the lung resistance major vault protein (LRP) gene on 16p11.2. \"    ///    \"p11), were analyzed for the presence of a FUS-CHOP fusion transcript by RT-PCR. \"    ///    \"p11), which leads to the formation of a FUS-CHOP fusion transcript. \"    ///    \"In none of the remaining 7 cases was a FUS-CHOP fusion transcript found, and four tumours were LRP positive (P = 0. \"'), ('2489', 'SYT_SSX', '', 'SYT', 'SSX', '10685642', '143', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Only by demonstration of the characteristic SYT-SSX gene fusion of synovial sarcoma by reverse transcriptase polymerase chain reaction (RT-PCR) analysis of RNA extracted from archival material could the diagnosis be confirmed. '), ('2490', 'MYH11_CBFB', 'inv(16)(p12q22) / inv(16)  / ', 'MYH11', 'CBFB', '8847901', '143', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'We conclude that CBFB/MYH11 fusion transcript detection, as a surrogate for the favorable prognosis and treatment planning implied by inv(16) in AML M4Eo, should not be exclusively relied upon in AML M1 in the absence of prospective study of this specific (M1) category of AML.     ///    Clinical aspects of expression of inversion 16 chromosomal fusion transcript CBFB/MYH11 in acute myelogenous leukemia subtype M1 with abnormal bone marrow eosinophilia..     ///    \"However, the CBFB/MYH11 fusion transcript was not detected in the relapsed specimen. \"    ///    We expand upon our prior abstract of a case of AML subtype M1 with abnormal eosinophils that expressed the inversion 16 fusion transcript CBFB/MYH11. '), ('2491', 'MLL_AF4', 't(4;11)  / ', 'MLL', 'AF4', '20869771', '143', 'leukemia\r\r', '', '', '', '', '', '', '', '', ' The most frequent MLL-gene rearrangement found in leukemia is a reciprocal translocation with AF4 on chromosome 4 resulting in the formation of the MLL-AF4 and the AF4-MLL fusion genes.     ///    t(4;11) leukemias display addiction to MLL-AF4 but not to AF4-MLL..     ///    \"Overall, these results demonstrate that in t(4;11) leukemia, the MLL-AF4 fusion protein is critical for leukemia cell proliferation and survival while the AF4-MLL fusion product is dispensable.. \"    ///    Loss of AF4-MLL had no effect on the growth of either RS4;11 or SEMK2-M1 cells.     ///    The oncogenic role of MLL-AF4 is documented but the significance of the reciprocal product - AF4-MLL in leukemia is less clear.     ///    \"In the human leukemia cell lines - RS4;11 and SEMK2-M1, both of which express MLL-AF4 and AF4-MLL, we knocked down the expression of AF4-MLL using siRNA. \"    ///    \"Furthermore, in SEMK2-M1 cells there were no changes in cell cycle or apoptosis with loss of AF4-MLL. \"'), ('2492', 'SYT_SSX2', 'p11.2;q11.2 / ', 'SYT', 'SSX2', '9688183', '142', 'synovial sarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', ' Identification of the t(X;18)(p11.2;q11.2) translocation and detection of the resulting SYT-SSX1 or SYT-SSX2 fusion transcripts are useful diagnostic markers for synovial sarcoma.     ///    \"In seven cases, the SYT-SSX1 or SYT-SSX2 fusion transcripts were demonstrated in frozen tissue using a different PCR assay. \"    ///    The type of the fusion was identified by the specific restriction enzyme digestion pattern as SYT-SSX1 in 13 cases and SYT-SSX2 in 7 cases. '), ('2493', 'FLI_EWS', 't(11;22)  / ', 'FLI', 'EWS', '9822928', '142', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'This diagnosis was further supported by the cytogenetic and reverse transcriptase-polymerase chain reaction (RT-PCR) findings of the characteristic t(11;22) chromosomal translocation and EWS/FLI-1 fusion transcripts, respectively, in one of the cases. '), ('2494', 'JAZF1_SUZ12', '', 'JAZF1', 'SUZ12', '26879382', '142', 'endometrial stromal sarcoma;sarcoma\r\r', '', '', '', '', '', '', 'KB', '', 'JAZF1/SUZ12 gene fusion in endometrial stromal sarcomas.    ///    In combination with the recently described YWHAE/FAM22 gene fusion the JAZF1/SUZ12 fusion could be used to differentiate between LG-ESS and HG-ESS.     ///    JAZF1/SUZ12 gene fusion in endometrial stromal sarcomas..     ///    To date the JAZF1/SUZ12 gene fusion is by far the most frequent and seems to be the cytogenetic hallmark of ESN and LG-ESS.     ///    The frequency of JAZF1/SUZ12 appearance varies between classic ESS and different morphologic variants. '), ('2495', 'PAX3_FKHR', 't(2;13)  / ', 'PAX3', 'FKHR', '9543674', '142', 'rhabdomyosarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Molecular analysis with RT-PCR amplification of RNA isolated from the tumour demonstrated the presence of a PAX3/FKHR fusion transcript, product of a t(2;13) reciprocal translocation, a genetic marker specific for alveolar rhabdomyosarcoma. '), ('2496', 'MLL_AF10', '', 'MLL', 'AF10', '11135434', '142', '', '', '', '', '', '', '', '', '', 'It was therefore concluded that the MLL-AF10 gene fusion is the result of a simultaneous transposition of genetic material into the MLL gene and the joining of the remaining free ends on chromosome 10.     ///    \"An example of such an interstitial insertion, which has created an MLL-AF10 fusion in an acute myeloid leukaemia, has been analysed at the genomic level. \"'), ('2497', 'MLLT11_MLL', 't(1;11)(q21;q23) / ', 'MLLT11', 'MLL', '22854283', '142', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', 'KB', '', 'Molecular identification of a new splicing variant of the MLL - MLLT11 fusion transcript in an adult with acute myeloid leukemia and t(1;11)(q21;q23)..     ///    This unusual break site results in the creation of two in-frame MLL-MLLT11 fusion transcripts in this acute myeloid leukemia patient with t(1;11)(q21;q23). '), ('2498', 'NUP98_DDX10', 'inv(11)(p15q22) / t(7;11)(p15;p15) / inv(11)  / ', 'NUP98', 'DDX10', '10222653', '142', 'acute myeloid leukemia;leukemia;hematopoietic malignancy\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', 'Seq', 'The inv(11)(p15q22) chromosome translocation of therapy-related myelodysplasia with NUP98-DDX10 and DDX10-NUP98 fusion transcripts..     ///    \"By reverse transcription polymerase chain reaction (RT-PCR) of the RNA from the leukemic cells of the patient, DDX10-NUP98 and NUP98-DDX10 fusion transcripts were detected. \"'), ('2499', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '21307934', '142', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Rearrangement breakpoints were enriched near open chromatin, androgen receptor and ERG DNA binding sites in the setting of the ETS gene fusion TMPRSS2-ERG, but inversely correlated with these regions in tumours lacking ETS fusions.    ///    \"Rearrangement breakpoints were enriched near open chromatin, androgen receptor and ERG DNA binding sites in the setting of the ETS gene fusion TMPRSS2-ERG, but inversely correlated with these regions in tumours lacking ETS fusions. \"'), ('2500', 'SYT_SSX2', 'p11.2;q11.2 / ', 'SYT', 'SSX2', '15350633', '142', '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.     ///    The ratio of SYT-SSX1:SYT-SSX2 fusion was 7:18 for monophasic and 2:7 for biphasic tumors in the Slovenian group.     ///    \"Whereas the frequency of different SYT-SSX fusions in the Dutch group was similar to that reported in the literature, we found an unexpectedly high number of tumors with SYT-SSX2 fusion in the Slovenian group. \"    ///    \"The ratio of SYT-SSX1:SYT-SSX2 fusions is close to 2:1 in the majority of studies, and SYT-SSX2 fusion has been only rarely observed in biphasic SS. \"    ///    Are there geographical differences in the frequency of SYT-SSX1 and SYT-SSX2 chimeric transcripts in synovial sarcoma?. '), ('2501', 'SYT_SSX1', 'p11.2;q11.2 / ', 'SYT', 'SSX1', '15350633', '142', '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.     ///    \"The ratio of SYT-SSX1:SYT-SSX2 fusions is close to 2:1 in the majority of studies, and SYT-SSX2 fusion has been only rarely observed in biphasic SS. \"    ///    The ratio of SYT-SSX1:SYT-SSX2 fusion was 7:18 for monophasic and 2:7 for biphasic tumors in the Slovenian group.     ///    Are there geographical differences in the frequency of SYT-SSX1 and SYT-SSX2 chimeric transcripts in synovial sarcoma?. '), ('2502', 'FUS_ERG', 't(16;21)(p11;q22) / ', 'FUS', 'ERG', '9549830', '142', 'leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'A TLS/ERG-FUS fusion transcript, which is known to be expressed by t(16;21)(p11;q22) translocation, was detectable by RT-PCR both in BM and CSF cells in the first complete remission, suggesting the existence of MRD.     ///    A TLS/ERG-FUS fusion transcript became rapidly below the detection level after PBSCT. '), ('2503', 'SYT_SSX1', 'p11.2;q11.2 / ', 'SYT', 'SSX1', '9688183', '142', 'synovial sarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', ' Identification of the t(X;18)(p11.2;q11.2) translocation and detection of the resulting SYT-SSX1 or SYT-SSX2 fusion transcripts are useful diagnostic markers for synovial sarcoma.     ///    \"In seven cases, the SYT-SSX1 or SYT-SSX2 fusion transcripts were demonstrated in frozen tissue using a different PCR assay. \"    ///    The type of the fusion was identified by the specific restriction enzyme digestion pattern as SYT-SSX1 in 13 cases and SYT-SSX2 in 7 cases. '), ('2504', 'TFE3_PSF', '', 'TFE3', 'PSF', '19228722', '142', 'renal cell carcinoma\r\r', '', '', '', '', '', '', '', '', 'The remaining two patients had PRCC-TFE3 and PSF-TFE3 gene fusions, respectively. '), ('2505', 'TFE3_PRCC', '', 'TFE3', 'PRCC', '19228722', '142', 'renal cell carcinoma\r\r', '', '', '', '', '', '', 'KB', '', 'The remaining two patients had PRCC-TFE3 and PSF-TFE3 gene fusions, respectively. '), ('2506', 'EWS_ERG', 't(11;22)  / t(21;22)  / ', 'EWS', 'ERG', '9586882', '142', 'ewing sarcoma', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'RNA was extracted from nucleated cells from PB and BM and a nested reverse-transcriptase polymerase chain reaction (RT-PCR) was performed to search for EWS-FLI-1 or EWS-ERG fusion transcripts that resulted from the t(11;22) or t(21;22) translocations, respectively. '), ('2507', 'BCR_ABL1', '', 'BCR', 'ABL1', '22847163', '142', 'leukemia;polycythemia vera\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic stem cells, which fall into distinct categories based on a number of characteristics including the presence of the BCR-ABL1 gene fusion (chronic myelogenous leukemia) or the JAK2(V617F) mutation (polycythemia vera, primary myelofibrosis, and essential thrombocythemia).     ///    Concomitant BCR-ABL1 translocation and JAK2(V617F) mutation in three patients with myeloproliferative neoplasms..     ///    The implications for diagnosis and treatment of patients with concomitant BCR-ABL1 and JAK2(V617F) are discussed as well as how the BCR-ABL1 and JAK2(V617F)-positive clones may be related to one another..     ///    \"The coexistence of a JAK2(V617F) mutation and BCR-ABL1 is rare, and to our knowledge, less than 25 cases have been reported in the literature. \"    ///    \"Our case series examines the clinical, histopathologic, and genetic features of 3 patients with myeloproliferative neoplasms characterized by concomitant BCR-ABL1 and JAK2(V617F). \"'), ('2508', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '10673520', '142', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' Most studies using various reverse-transcription polymerase chain reaction (RT-PCR) techniques reported that the detection of the AML1-ETO fusion transcript was a common finding in long-term complete remission (CR) in acute myeloid leukemia (AML) with t(8;21) translocation. '), ('2509', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23480797', '142', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'The TMPRSS2-ERG gene fusion, the most common gene fusion, is found in approximately 50% of prostate cancer cases. '), ('2510', 'BCL2_IGH', 't(14;18) / t(14;18)  / ', 'BCL2', 'IGH', '9804912', '142', 'acute myeloid leukemia;acute lymphoblastic leukemia;chronic myeloid leukemia\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'A PCR-based assay was developed to quantitate the frequency of two illegitimate V(D)J recombinase-mediated genomic rearrangements-a 20-kb deletion in the hprt gene and the bcl2/IgH translocation (t(14;18)) found in non-Hodgkin\'s lymphoma. '), ('2511', 'SYT_SSX1', 'p11.2;q11.2 / ', 'SYT', 'SSX1', '10095437', '142', 'gastrointestinal cancer', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'We analysed, whether detection of SYT-SSX1/2 fusion transcripts, present as a consequence of a specific translocation [t(X;18)(p11.2;q11.2)] found in synovial sarcomas, are useful to confirm the diagnosis of synovial sarcoma.     ///    DNA sequencing of PCR products enabled the assignment of fusion transcripts to either the SYT-SSX1 or the SYT-SSX2 variant.     ///    These data provide further evidence that the RT-PCR amplification of SYT-SSX1/2 fusion transcripts permits the specific identification of synovial sarcomas.     ///    A nested RT-PCR protocol was established for the detection of SYT-SSX1/2 fusion transcripts.     ///    We detected SYT-SSX1/2 fusion transcripts in seven monophasic and three biphasic synovial sarcomas. '), ('2512', 'FLI1_EWSR1', 't(11;22) (q24;q12) / ', 'FLI1', 'EWSR1', '25948942', '142', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', 'Seq', 'We report a case of primary renal ES in a young male, which had a t(11;22) (q24;q12) chromosome translocation encoding a type2 EWSR1/FLI1 fusion transcript.     ///    \"Upregulation of NKX2.2, a target of EWSR1/FLI1 fusion transcript, in primary renal Ewing sarcoma.. \"    ///    \"The tumor cells showed diffuse cytoplasmic immunoreactivity for CD99 and diffuse nuclear immunoreactivity for NKX2.2, an important oncogenic transcriptional target of EWSR1/FLI1, not only in the histological, but also in the cytological specimens. \"'), ('2513', 'DEK_CAN', 't(6;9)  / t(6;9)(p23;q34) / ', 'DEK', 'CAN', '15380347', '142', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'A real-time quantitative RT-PCR assay for monitoring DEK-CAN fusion transcripts arising from translocation t(6;9) in acute myeloid leukemia..     ///    \" We have developed a real-time quantitative RT-PCR (RQ-PCR) assay for the DEK-CAN fusion transcript, which results from t(6;9)(p23;q34) and is found in about 1% of acute myeloid leukemia (AML) cases. \"    ///    \"In a single patient followed closely for 57 weeks, an increasing DEK-CAN level was detected 40 days before an early hematological relapse. \"'), ('2514', 'TFE3_ASPL', '', 'TFE3', 'ASPL', '15316311', '142', 'renal cell carcinoma', '', '', '', '', '', '', '', '', 'This classification includes the recently described renal cell carcinomas with the ASPL-TFE3 gene fusion and carcinomas with a PRCC-TFE3 gene fusion. '), ('2515', 'ETV6_ABL2', 't(1;10;12) / t(15;17)(q22;q21) / t(1;12)(q25;p13) / ', 'ETV6', 'ABL2', '12406085', '142', 'T ALL\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Identical ETV6-ABL2 fusion transcripts have been reported in an acute myeloid leukaemia (AML) M3 cell line, carrying both a t(15;17)(q22;q21) and a t(1;12)(q25;p13) with unusual inducible differentiation to eosinophils, and in a patient with AML-M4eo.     ///    Identification of an ETV6-ABL2 fusion transcript in combination with an ETV6 point mutation in a T-cell acute lymphoblastic leukaemia cell line..     ///    \"Using reverse transcription polymerase chain reaction with primers complementary to ETV6 and ABL2, two ETV6-ABL2 fusion transcripts were identified in MT-ALL which resulted from alternative splicing of an ABL2 exon. \"    ///    \"The fusion transcripts code for putative ETV6-ABL2 fusion proteins containing the pointed domain of ETV6 and almost the complete ABL2 protein, including the SH2, SH3 domains and the protein tyrosine kinase domain (PTK). \"'), ('2516', 'TEL_AML1', '', 'TEL', 'AML1', '25244981', '142', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Constitutive 53BP1/?H2AX foci are increased in cells of ALL patients dependent on BCR-ABL and TEL-AML1 preleukemic gene fusions..     ///    \"These translocations result in so called preleukemic gene fusions (PGFs), such as BCR-ABL and TEL-AML1, which generate hybrid proteins with altered properties. \"    ///    There was also significant increased level of constitutive ?H2AX/53BP1 foci in cells from ALL patients harboring BCR-ABL or TEL-AML1 compared to patients without PGFs.     ///    BCR-ABL and TEL-AML1 were shown to be associated with increased constitutive DSBs in various model systems.     ///    We analyzed cells from peripheral blood and CD34-/CD34+ cells from bone marrow of pediatric acute lymphoblastic leukemia (ALL) patients harboring BCR-ABL or TEL-AML1.     ///    Our data on increased DSB levels in the BCR-ABL/TEL-AML1 patient\'s cells support a?model where BCR-ABL/TEL-AML1 induces DNA instability through facilitating mutagenesis and appearance of additional genetic alterations driving leukemogenesis.. '), ('2517', 'HLF_E2A', 't(17;19) (q22;p13) / t(17;19)  / ', 'HLF', 'E2A', '8700228', '142', '', '', '', 'Oncogene', '', '', '', '', '', ' The E2A-HLF (for hepatic leukaemia factor) fusion gene, formed by action of the t(17;19) (q22;p13) chromosomal translocation, drives the leukaemic transformation of early B-cell precursors, but the mechanism of this activity remains unknown.     ///    \"Here we report that human leukaemia cells carrying the translocation t(17;19) rapidly died by apoptosis when programmed to express a dominant-negative suppressor of the fusion protein E2A-HLF, indicating that the chimaeric oncoprotein probably affects cell survival rather than cell growth. \"    ///    Reversal of apoptosis by the leukaemia-associated E2A-HLF chimaeric transcription factor..     ///    The close homology of the basic region/leucine zipper (bZIP) DNA-binding and dimerization domain of HLF to that of the CES-2 cell-death specification protein of Caenorhabditis elegans suggests a model of leukaemogenesis in which E2A-HLF blocks an early step within an evolutionarily conserved cell-death pathway..     ///    \"Moreover, when introduced into murine pro-B lymphocytes, the oncogenic E2A-HLF fusion protein reversed both interleukin-3-dependent and p53-mediated apoptosis. \"'), ('2518', 'TFE3_PRCC', '', 'TFE3', 'PRCC', '15316311', '142', 'renal cell carcinoma', '', '', '', '', '', '', 'KB', '', 'This classification includes the recently described renal cell carcinomas with the ASPL-TFE3 gene fusion and carcinomas with a PRCC-TFE3 gene fusion. '), ('2519', 'KIAA1549_BRAF', '', 'KIAA1549', 'BRAF', '25883769', '142', 'pilocytic astrocytoma\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Tandem duplication involving the KIAA1549 and the BRAF kinase genes results in a gene fusion that has been recently characterized in a subset of low grade glioma While there is no clear evidence that the KIAA1549-BRAF gene fusion has an effect on prognosis, it is an attractive target for therapy development and as a diagnostic tool.     ///    In the current study we examine the prevalence of KIAA1549-BRAF gene fusion in pediatric patients diagnosed with low grade glioma in the Egyptian population and its relationship to clinical and histological subtypes.     ///    Sixty patients between the ages of 1 to 18 years were analyzed for the presence of KIAA1549-BRAF fusion gene products using reverse transcription-PCR and sequencing.     ///    KIAA1549-BRAF fusion genes were detected in 56.6% of patients. '), ('2520', 'NTRK3_ETV6', '', 'NTRK3', 'ETV6', '15750350', '142', 'fibrosarcoma;sarcoma\r\r', '', 'Kinase', '', '', '', '', 'KB', 'Seq', 'Up-regulation of glutathione biosynthesis in NIH3T3 cells transformed with the ETV6-NTRK3 gene fusion..     ///    \" The ETV6-NTRK3 gene fusion, first identified in the chromosomal translocation in congenital fibrosarcoma, encodes a chimeric protein tyrosine kinase with potent transforming activity. \"'), ('2521', 'TACC3_FGFR3', '', 'TACC3', 'FGFR3', '26869289', '142', 'cervical cancer;gallbladder cancer;oral cancer', '', 'Kinase', '', '', '', '', '', '', 'Oncogenic Gene Fusion FGFR3-TACC3 Is Regulated by Tyrosine Phosphorylation..     ///    \"These results demonstrate that FGFR3 kinase activity is essential for the oncogenic effects of the FGFR3-TACC3 fusion protein and could serve as a therapeutic target, but that phosphorylated tyrosine residues within the TACC3-derived portion are not critical for activity. \"'), ('2522', 'FOP_FGFR1', 't(6;8)  / ', 'FOP', 'FGFR1', '12969958', '142', 'myeloproliferative disorder\r\r', '', 'Kinase', '', '', '', '', '', '', ' Constitutive activation of aberrant fibroblast growth factor receptor 1 (FGFR1) kinase as a consequence of gene fusion such as FOP-FGFR1 associated with t(6.     ///    \"FOP-FGFR1 tyrosine kinase, the product of a t(6;8) translocation, induces a fatal myeloproliferative disease in mice.. \"    ///    \"Lymphoid symptoms, however, appeared when onset of the disease was delayed as the result of mutation of FOP-FGFR1 at tyrosine 511, the phospholipase C gamma (PLCgamma) binding site.. \"    ///    Constitutive FOP-FGFR1 kinase activity was both essential and sufficient to cause a chronic myeloproliferative syndrome in the murine bone marrow transplantation model.     ///    \"In this study, we show that expression of FOP-FGFR1 in primary bone marrow cells induced by retroviral transduction generates a MPD in mice. \"'), ('2523', 'EWS_ERG', '', 'EWS', 'ERG', '10561219', '142', 'synovial sarcoma;rhabdomyosarcoma;ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'We selected 30 cases of Ewing\'s sarcoma with the EWS-ERG gene fusion and 106 cases with the EWS-FLI1 fusion.     ///    EWS-FLI1 and EWS-ERG gene fusions are associated with similar clinical phenotypes in Ewing\'s sarcoma..     ///    \"We investigated whether the two alternative gene fusion products, EWS-FLI1 and EWS-ERG, define different clinical subsets within the Ewing\'s sarcoma family of tumors. \"'), ('2524', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '15053804', '142', 'acute myeloid leukemia', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' A quantitative nested reverse transcriptase polymerase chain reaction (QN-RT-PCR) method was developed using a plasmid cDNA containing the AML1/ETO (MTG8) fusion transcript from Kasumi-1 cells, an acute-myelogenous leukemia cell line with the t(8;21) translocation.     ///    real-time PCR for measuring AML1/ETO (MTG8) transcripts.. '), ('2525', 'ETO_AML1', 't(3;8)(q29;q22) / t(3;8)  / t(3;8) / ', 'ETO', 'AML1', '9783804', '142', 'refractory anemia with excess of blasts', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'A rare variant translocation t(3;8)(q29;q22) without AML1/ETO fusion transcript in a case of oligoblastic leukemia..     ///    \"However, RT-PCR assay showed no AML1/ETO fusion transcript. \"'), ('2526', 'MECT1_MAML2', 't(11;19) / t(11;19)  / ', 'MECT1', 'MAML2', '17618868', '141', 'mucoepidermoid carcinoma\r\r', '', '', '', '', '', '', '', '', 'Our data concur with previously reported cases, in which t(11;19) appears to be the primary chromosomal aberration for pulmonary MEC in children, and that the MECT1-MAML2 fusion transcript is associated with a better prognosis in MEC tumors..     ///    t(11;19)(q21;p12~p13.11) and MECT1-MAML2 fusion transcript expression as a prognostic marker in infantile lung mucoepidermoid carcinoma..     ///    \"Our data concur with previously reported cases, in which t(11;19) appears to be the primary chromosomal aberration for pulmonary MEC in children, and that the MECT1-MAML2 fusion transcript is associated with a better prognosis in MEC tumors..\"    ///    \"p12~p13.11) and the MECT1-MAML2 fusion transcript in a 9-year-old girl with mucoepidermoid lung carcinoma using conventional cytogenetics, fluorescence in-situ hybridization, spectral karyotyping, high-resolution multicolor banding, and reverse transcriptase-polymerase chain reaction. \"    ///    Molecular analysis of the translocation breakpoint confirmed the presence of the MECT1-MAML2 fusion transcript postulated to lead to an altered cyclic adenosine monophosphate signaling in MEC. '), ('2527', 'EML4_ALK', '', 'EML4', 'ALK', '25785456', '141', 'malignant pleural effusion', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The EML4-ALK fusion gene status was determined with fluorescent in situ hybridization (FISH), reverse transcription-polymerase chain reaction (RT-PCR), and immunohistochemistry (IHC).    ///    \"The EML4-ALK fusion gene status was determined with fluorescent in situ hybridization (FISH), reverse transcription-polymerase chain reaction (RT-PCR), and immunohistochemistry (IHC). \"    ///    We attempted to clarify the feasibility of detecting the EML4-ALK fusion gene in pleural effusion cells using different methods.    ///    We attempted to clarify the feasibility of detecting the EML4-ALK fusion gene in pleural effusion cells using different methods.     ///    These results suggest that a block of pleural effusion cells can be used to detect the EML4-ALK fusion gene.     ///    \"Detection of EML4-ALK in lung adenocarcinoma using pleural effusion with FISH, IHC, and RT-PCR methods.\"    ///    \"Detection of EML4-ALK in lung adenocarcinoma using pleural effusion with FISH, IHC, and RT-PCR methods.. \"    ///    RT-PCR is a good candidate method for detecting EML4-ALK in blocks of pleural effusion cells from lung cancer patients.    ///    EML4-ALK was detected in three of 66 patient samples (4.5%) with RT-PCR. '), ('2528', 'RARA_PRKAR1A', '', 'RARA', 'PRKAR1A', '17712046', '141', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', '', 'RT-PCR using specific primers for PRKAR1A and RARA amplified 2 transcript splice variants of a PRKAR1A-RARA fusion gene, and PRKAR1A and RARA FISH probes confirmed the fusion.     ///    This novel PRKAR1A-RARA gene rearrangement is the fifth variant APL in which the RARA partner gene has been identified and the second known rearrangement of PRKAR1A in a malignant disease. '), ('2529', 'TPM3_NTRK1', '', 'TPM3', 'NTRK1', '7590742', '141', '', '', 'Kinase', '', '', '', '', 'KB', 'Seq', 'Therefore, due to the splicing mechanism, all of the TPM3/NTRK1 gene fusions encoded an invariable transcript and the same chimeric protein of 70 kDa, which was constitutively phosphorylated on tyrosine.     ///    \"In two of the three tumors the simultaneous presence of the reciprocal products of the TPM3/NTRK1 recombination, 5\'TPM3-3\'NTRK1 and 5\'NTRK1-3\'TPM3 sequences, respectively, and the previously demonstrated localization of both genes on the long arm of chromosome 1 lead us to suggest that an intrachromosomal inversion could be responsible for their recombination. \"'), ('2530', 'TCF3_PBX1', '', 'TCF3', 'PBX1', '25273558', '141', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'We show that the MYC and JunD transcriptional circuits are specifically deregulated after ETV6-RUNX1 and TCF3-PBX1 gene fusions, respectively.     ///    \"Using as models three different chromosomal translocations-ETV6-RUNX1 (TEL-AML1), BCR-ABL1, and TCF3-PBX1 (E2A-PBX1)-frequently found in precursor-B-cell acute lymphoblastic leukemia (preB-ALL), we develop an approach to extract perturbed molecular interactions from gene expression changes. \"    ///    \"Through a novel approach combining gene expression and interactome data analysis, we provide new insight into TCF3-PBX1 and ETV6-RUNX1 acute lymphoblastic leukemia. \"    ///    We also identified the bulk mRNA NXF1-dependent machinery as a direct target for the TCF3-PBX1 fusion protein. '), ('2531', 'Immunoglobulin _BCL2', 't(14;18)  / t(14;18) / ', 'Immunoglobulin ', 'BCL2', '11234896', '141', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Efficacy of treatment with antisense oligonucleotides complementary to immunoglobulin sequences of bcl-2/immunoglobulin fusion transcript in a t(14;18) human lymphoma-scid mouse model.. '), ('2532', 'SYT_SSX', '', 'SYT', 'SSX', '10935649', '141', 'renal cancer;sarcoma;synovial sarcoma', '', '', '', '', '', '', '', '', 'The presence of an SYT-SSX gene fusion resulting from the t(X;18) characteristic of synovial sarcoma was demonstrated by reverse transcriptase polymerase chain reaction in three of three tumors in which adequate RNA could be obtained from paraffin blocks.     ///    Primary renal synovial sarcoma is a distinctive clinicopathologic entity confirmed by molecular detection of SYT-SSX fusion transcripts.. '), ('2533', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '14761607', '141', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The rearrangements of AML1 gene were detectable after DOX treatment at concentrations of 10, 50 and 100 micro mol/L for 16 h, AML1-ETO fusion gene appeared after 50 micro mol/L DOX treatment for 48 h.     ///    The rearrangements of AML1 and ETO genes were detected by Southern Blot and the AML1-ETO fusion gene by nested RT-PCR combined with sequencing in K562 cells treated with etoposide (Vp16) and doxorubicin (DOX). ');
INSERT INTO `ChimerPub_dump` VALUES ('2534', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '25273558', '141', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'We show that the MYC and JunD transcriptional circuits are specifically deregulated after ETV6-RUNX1 and TCF3-PBX1 gene fusions, respectively.     ///    \"Using as models three different chromosomal translocations-ETV6-RUNX1 (TEL-AML1), BCR-ABL1, and TCF3-PBX1 (E2A-PBX1)-frequently found in precursor-B-cell acute lymphoblastic leukemia (preB-ALL), we develop an approach to extract perturbed molecular interactions from gene expression changes. \"    ///    \"Through a novel approach combining gene expression and interactome data analysis, we provide new insight into TCF3-PBX1 and ETV6-RUNX1 acute lymphoblastic leukemia. \"'), ('2535', 'MMSET_FGFR3', 't(4;14) / p16.3;q32 / t(11;14)(q13;q32) / t(6;14)(p21;q32) / t(14;16)(q32;q23) / t(14;20)(q32;q12) / t(4;14)  / t(11;14)  / t(6;14)  / t(14;16)  / t(14;20)  / ', 'MMSET', 'FGFR3', '15543617', '141', 'plasma cell leukemia', 'FISH;PCR;RT-PCR ', 'Kinase', '', '', '', '', '', '', 'We investigated the expression profiles of the FGFR3/MMSET, CCND1, CCND3, MAF, and MAFB genes, which are involved in t(4;14)(p16.3;q32), t(11;14)(q13;q32), t(6;14)(p21;q32), t(14;16)(q32;q23), and t(14;20)(q32;q12), respectively, in purified plasma cell populations from 39 MMs and six plasma cell leukemias (PCL) by DNA microarray analysis and compared the results with the presence of translocations as assessed by dual-color FISH or RT-PCR. '), ('2536', 'Immunoglobulin _BCL2', 't(14;18)  / t(14;18) / ', 'Immunoglobulin ', 'BCL2', '11167744', '141', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Antisense oligonucleotides complementary to immunoglobulin sequences of BCL-2/immunoglobulin fusion transcript induce apoptosis of t(14;18) lymphoma cells.. '), ('2537', 'TEL_AML1', 't(12;21)  / ', 'TEL', 'AML1', '10583273', '140', '', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', ' We report on a series of Spanish patients with acute lymphoblastic leukaemia in whom the t(12;21) [TEL/AML1] translocation could not be identified with two sensitive techniques: reverse transcript-polymerase chain reaction (RT-PCR) and fluorescence in-situ hybridization (FISH).     ///    Low frequency of the TEL/AML1 fusion gene in acute lymphoblastic leukaemia in Spain..     ///    Specific RT-PCR to amplify the TEL/AML1 fusion transcript was negative in all 101 cases.     ///    \"Moreover, all 38 paediatric samples were also negative by interphase FISH analysis for the presence of the TEL/AML1 fusion. \"'), ('2538', 'SEPT9_MLL', 't(11;17)(q23;q25) / ', 'SEPT9', 'MLL', '18642054', '140', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'A variant-type MLL/SEPT9 fusion transcript in adult de novo acute monocytic leukemia (M5b) with t(11;17)(q23;q25)..     ///    \"It is thus suggested that, in common with the original MLL/SEPT9 cases, monocytic differentiation and a poor prognosis may also be associated with acute myeloid leukemia with the variant MLL/SEPT9 fusion transcript.. \"'), ('2539', 'TFE3_ASPL', '', 'TFE3', 'ASPL', '20073616', '140', 'renal cell carcinoma;alveolar soft part sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'These include a distinctive RCC that bears a translocation with the identical chromosomal breakpoints (Xp11.2, 17q25) and identical resulting ASPL-TFE3 gene fusion as alveolar soft part sarcoma. '), ('2540', 'EML4_ALK', '', 'EML4', 'ALK', '25581823', '139', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In this study, we found that the lung adenocarcinoma cell line A925L expresses an EML4-ALK gene fusion (variant 5a, E2:A20) and is sensitive to the ALK inhibitors crizotinib and alectinib.     ///    \"We further established highly tumorigenic A925LPE3 cells, which also have the EML4-ALK gene fusion (variant 5a) and are sensitive to ALK inhibitors. \"    ///    Our in vivo imaging models of multiple organ sites may provide useful resources to analyze further the pathogenesis of EML4-ALK lung cancer and its response and resistance to ALK inhibitors in various organ microenvironments.    ///    \"To investigate the molecular mechanism underlying tumor progression and targeted drug sensitivity/resistance in EML4-ALK lung cancer, clinically relevant animal models are indispensable. \"    ///    \"By using A925LPE3 cells with luciferase gene transfection, we established in vivo imaging models for pleural carcinomatosis, bone metastasis, and brain metastasis, all of which are significant clinical concerns of advanced EML4-ALK lung cancer. \"    ///     EML4-ALK lung cancer accounts for approximately 3-7% of non-small-cell lung cancer cases. '), ('2541', 'MAML2_CRTC1', '', 'MAML2', 'CRTC1', '19749740', '139', 'mucoepidermoid carcinoma\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'We and others showed that CRTC1-MAML2 gene fusion was associated with favorable clinicopathological tumor features.     ///    Mucoepidermoid carcinomas possessing CRTC3-MAML2 fusion may be associated with favorable clinicopathological features and patients may be younger than those with CRTC1-MAML2 fusion or those with no detectable gene fusion..     ///    \"Of 101 cases of mucoepidermoid carcinoma, 34 (34%) and 6 (6%) were positive for CRTC1-MAML2 and CRTC3-MAML2 fusion transcripts. \"    ///    \"We developed reverse transcription-polymerase chain reaction (RT-PCR) assays for CRTC1-MAML2, CRTC2-MAML2, and CRTC3-MAML2 fusions. \"    ///    \"In conclusion, CRTC3-MAML2 fusion, which is mutually exclusive with CRTC1-MAML2 fusion and specific to mucoepidermoid carcinoma, may be detected more frequently than previously expected. \"    ///    \"In the former cases, CRTC1-MAML2 and CRTC3-MAML2 fusions were mutually exclusive. \"    ///    It is interesting to note that patients with CRTC3-MAML2-positive tumors (mean 36 years of age) were significantly younger that those with the CRTC1-MAML2 fusion (55 years) and those with fusion-negative tumors (58 years).     ///    \"In the former cases, CRTC1-MAML2 and CRTC3-MAML2 fusions were mutually exclusive.\"'), ('2542', 'MAML2_CRTC3', '', 'MAML2', 'CRTC3', '19749740', '139', 'mucoepidermoid carcinoma\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', 'Recently, a novel gene fusion, CRTC3-MAML2, was reported as a rare gene alteration in a case of mucoepidermoid carcinoma.     ///    Mucoepidermoid carcinomas possessing CRTC3-MAML2 fusion may be associated with favorable clinicopathological features and patients may be younger than those with CRTC1-MAML2 fusion or those with no detectable gene fusion..     ///    \"Of 101 cases of mucoepidermoid carcinoma, 34 (34%) and 6 (6%) were positive for CRTC1-MAML2 and CRTC3-MAML2 fusion transcripts. \"    ///    Clinicopathological significance of the CRTC3-MAML2 fusion transcript in mucoepidermoid carcinoma..     ///    \"We developed reverse transcription-polymerase chain reaction (RT-PCR) assays for CRTC1-MAML2, CRTC2-MAML2, and CRTC3-MAML2 fusions. \"    ///    \"We developed reverse transcription-polymerase chain reaction (RT-PCR) assays for CRTC1-MAML2, CRTC2-MAML2, and CRTC3-MAML2 fusions.\"    ///    \"In conclusion, CRTC3-MAML2 fusion, which is mutually exclusive with CRTC1-MAML2 fusion and specific to mucoepidermoid carcinoma, may be detected more frequently than previously expected. \"    ///    \"In the former cases, CRTC1-MAML2 and CRTC3-MAML2 fusions were mutually exclusive. \"'), ('2543', 'STAT6_NAB2', '', 'STAT6', 'NAB2', '23475888', '139', 'solitary fibrous tumor\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' NAB2-STAT6 gene fusions occur in the vast majority of solitary fibrous tumors..     ///    NAB2-STAT6 fusions are a hallmark of solitary fibrous tumors.    ///    NAB2-STAT6 fusions are a hallmark of solitary fibrous tumors.. '), ('2544', 'TPM3_ALK', '', 'TPM3', 'ALK', '17063337', '139', 'pneumonia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'A case of an inflammatory myofibroblastic tumor in the lung which expressed TPM3-ALK gene fusion..     ///    The histological findings and the expression of TPM3-ALK fusion gene confirmed a diagnosis of an inflammatory myofibroblastic tumor. '), ('2545', 'SS18_SSX1', '', 'SS18', 'SSX1', '16152617', '139', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'In conclusion, our findings demonstrate differentially expressed genes for the 2 major gene fusion variants in SS, SS18/SSX1 and SS18/SSX2, and thereby suggest that these result in different downstream effects..    ///    \"In conclusion, our findings demonstrate differentially expressed genes for the 2 major gene fusion variants in SS, SS18/SSX1 and SS18/SSX2, and thereby suggest that these result in different downstream effects.. \"    ///    Supervised analysis based on gene fusion type in 12 SS with SS18/SSX1 and 9 with SS18/SSX2 revealed significant differences in gene expression profiles. '), ('2546', 'EWSR1_ATF1', '', 'EWSR1', 'ATF1', '25927151', '139', 'fibrous histiocytoma;histiocytoma\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Angiomatoid fibrous histiocytoma is associated with 3 characteristic gene fusions, EWSR1-CREB1 and EWSR1-ATF1, which are also described in other neoplasms, and rarely FUS-ATF1.     ///    \"To review the current status of AFH, discussing putative etiology, histopathology with variant morphology and differential diagnosis, and current genetics, including overlap with other tumors harboring EWSR1-CREB1 and EWSR1-ATF1 fusions.\"    ///    \"To review the current status of AFH, discussing putative etiology, histopathology with variant morphology and differential diagnosis, and current genetics, including overlap with other tumors harboring EWSR1-CREB1 and EWSR1-ATF1 fusions. \"'), ('2547', 'STAT6_NAB2', '', 'STAT6', 'NAB2', '25432794', '139', 'solitary fibrous tumor\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Recently, a recurrent gene fusion NAB2-STAT6 has been identified as molecular hallmark.     ///    \"Recently, a recurrent gene fusion NAB2-STAT6 has been identified as molecular hallmark.\"    ///    \"For detection of the NAB2-STAT6 fusion gene, RT-PCR was performed using RNA extracted from formalin-fixed and paraffin-embedded tissues. \"    ///    NAB2-STAT6 fusion transcripts were found in 19/28 cases (68%).     ///    The NAB2-STAT6 fusion leads to EGR1 activation and transcriptional deregulation of EGR1-dependent target genes and is a driving event in initiation of SFT.     ///    \"The identification of the NAB2-STAT6 fusion in SFTs can provide important diagnostic information, especially in cases with aberrant morphology or when biopsy material is limited. \"    ///    \"The identification of the NAB2-STAT6 fusion in SFTs can provide important diagnostic information, especially in cases with aberrant morphology or when biopsy material is limited.\"'), ('2548', 'STAT6_NAB2', '', 'STAT6', 'NAB2', '24434011', '139', 'solitary fibrous tumor', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Consistent with other recent studies, the prostatic SFTs demonstrated NAB2-STAT6 gene fusions that were also present in the fibroblast, myofibroblast, and smooth muscle cell types of the SFT. '), ('2549', 'STAT6_NAB2', '', 'STAT6', 'NAB2', '23860521', '139', 'malignant meningioma\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Inversion-mediated gene fusions involving NAB2-STAT6 in an unusual malignant meningioma..     ///    Gene fusions of NAB2-STAT6 were recently implicated in the pathogenesis of solitary fibrous tumours. '), ('2550', 'STAT6_NAB2', '', 'STAT6', 'NAB2', '23313952', '139', 'solitary fibrous tumor\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Identification of recurrent NAB2-STAT6 gene fusions in solitary fibrous tumor by integrative sequencing..     ///    Transcriptome sequencing of 27 additional SFTs identified the presence of a NAB2-STAT6 gene fusion in all tumors.     ///    Overexpression of the NAB2-STAT6 gene fusion induced proliferation in cultured cells and activated the expression of EGR-responsive genes.     ///    These studies establish NAB2-STAT6 as the defining driver mutation of SFT and provide an example of how neoplasia can be initiated by converting a transcriptional repressor of mitogenic pathways into a transcriptional activator..     ///    \"Expression of NAB2-STAT6 fusion proteins was confirmed in SFT, and the predicted fusion products harbor the early growth response (EGR)-binding domain of NAB2 fused to the activation domain of STAT6. \"'), ('2551', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '17390040', '139', 'prostate cancer\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', 'Seq', 'Molecular genetic analyses of the TMPRSS2-ERG and TMPRSS2-ETV1 gene fusions in 50 cases of prostate cancer.. '), ('2552', 'NTRK3_ETV6', '', 'NTRK3', 'ETV6', '10918240', '139', 'fibrosarcoma;sarcoma\r\r', '', 'Kinase', '', '', '', '', 'KB', 'Seq', 'ETV6-NTRK3 gene fusion in metastasizing congenital fibrosarcoma.. '), ('2553', 'TMPRSS2_ETV1', '', 'TMPRSS2', 'ETV1', '17390040', '139', 'prostate cancer\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', 'Seq', 'Molecular genetic analyses of the TMPRSS2-ERG and TMPRSS2-ETV1 gene fusions in 50 cases of prostate cancer..     ///    \"Herein, we have analyzed a series of 50 prostate cancer samples for expression of TPRSS2-ERG and TMPRSS2-ETV1 fusion transcripts. \"    ///    Our findings show that the TMPRSS2-ERG fusion is common in prostate cancer and that the related TMPRSS2-ETV1 fusion is very rare.     ///    None of the tumors expressed a TMPRSS2-ETV1 fusion. '), ('2554', 'FOXO4_CIC', '', 'FOXO4', 'CIC', '25321332', '139', 'sarcoma\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Clinicopathologic features of a second patient with Ewing-like sarcoma harboring CIC-FOXO4 gene fusion.. '), ('2555', 'EWSR1_CREB1', '', 'EWSR1', 'CREB1', '24715928', '139', 'abdominal neoplasm', '', '', '', '', '', 'Transcription_Factor', 'KB', '', 'Histologically, it is composed of relatively monomorphic ovoid or round cells with clear to eosinophilic cytoplasm, arranged in sheets and sometimes papillary or alveolar architectures, often with CD68-positive osteoclast-like giant cells in variable numbers, and is associated with EWSR1-CREB1 gene fusions.    ///    \"Histologically, it is composed of relatively monomorphic ovoid or round cells with clear to eosinophilic cytoplasm, arranged in sheets and sometimes papillary or alveolar architectures, often with CD68-positive osteoclast-like giant cells in variable numbers, and is associated with EWSR1-CREB1 gene fusions. \"'), ('2556', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '17172822', '139', 'prostate cancer\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', 'Seq', 'Expression of TMPRSS2:ERG gene fusion in prostate cancer cells is an important prognostic factor for cancer progression..     ///    \"However, the clinical significance of TMPRSS2:ERG gene fusion among prostate cancer patients is unknown. \"    ///    \"We assayed for the presence of the TMPRSS2:ERG gene fusion product among 26 patients who underwent surgery for clinically localized prostate cancer using RT-PCR and direct DNA sequencing, and evaluated its prognostic significance. \"'), ('2557', 'PHF1_MEAF6', '', 'PHF1', 'MEAF6', '24530230', '139', 'endometrial stromal sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'MEAF6/PHF1 is a recurrent gene fusion in endometrial stromal sarcoma..     ///    \"We present two more ESS with MEAF6/PHF1 detected by transcriptome sequencing (case 1) and RT-PCR (case 2), proving that this fusion is recurrent in ESS. \"    ///    The MEAF6/PHF1 fusion had hitherto been identified in only one tumor. '), ('2558', 'EWSR1_CREB1', '', 'EWSR1', 'CREB1', '22510762', '139', 'clear cell sarcoma;fibrous histiocytoma;sarcoma;histiocytoma\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', '', 'EWSR1-CREB1 and EWSR1-ATF1 are gene fusions of which one or both have now been consistently described in 5 histopathologically and behaviorally diverse neoplasms: angiomatoid fibrous histiocytoma, conventional clear cell sarcoma (of tendons and aponeuroses), clear cell sarcoma-like tumor of the gastrointestinal tract, hyalinizing clear cell carcinoma of the salivary gland, and primary pulmonary myxoid sarcoma.    ///    \" EWSR1-CREB1 and EWSR1-ATF1 are gene fusions of which one or both have now been consistently described in 5 histopathologically and behaviorally diverse neoplasms: angiomatoid fibrous histiocytoma, conventional clear cell sarcoma (of tendons and aponeuroses), clear cell sarcoma-like tumor of the gastrointestinal tract, hyalinizing clear cell carcinoma of the salivary gland, and primary pulmonary myxoid sarcoma. \"    ///    Tumors with EWSR1-CREB1 and EWSR1-ATF1 fusions: the current status..     ///    We review the clinicopathologic and molecular features of this group of neoplasms unified by the presence of EWSR1-CREB1 and EWSR1-ATF1 genetic fusions..     ///    \"yet, the increasing frequency with which EWSR1-CREB1 and EWSR1-ATF1 fusions are being described in separate entities is noteworthy. \"'), ('2559', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '17237811', '139', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2:ERG gene fusion associated with lethal prostate cancer in a watchful waiting cohort.. '), ('2560', 'EML4_ALK', '', 'EML4', 'ALK', '23372947', '139', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Five out of 7 EGFR mutation-negative patients showed positive results for EML4-ALK gene fusion.     ///    Driver oncogene including EGFR mutation and EML4-ALK fusion gene was identified in 9 of 12 cases (75%).     ///    \"Twelve patients with lung adenocarcinoma aged 40 or younger at Juntendo University Urayasu Hospital or Juntendo University Hospital from July 2004 to March 2010 were analyzed for driver oncogene status including EGFR activating mutation, EML4-ALK fusion gene, and K-ras mutation. \"'), ('2561', 'EML4_ALK', '', 'EML4', 'ALK', '26332764', '139', 'lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Six of 22 (27.2%) cases contained EML4-ALK gene fusions.    ///    Six of 22 (27.2%) cases contained EML4-ALK gene fusions. '), ('2562', 'EML4_ALK', '', 'EML4', 'ALK', '18242762', '139', 'non small cell lung cancer;adenocarcinoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' EML4-ALK gene fusions have recently been discovered in a subset of human lung carcinomas, and fusions of the ALK tyrosine kinase gene with the NPM, TPM3, CLTC, ATIC, and TFG genes have been found in hematological malignancies.     ///    In situ PCR of a paraffin block section showed that the carcinoma with expression of the variant 1 actually contained an EML4-ALK fusion gene.     ///    These results suggested that the EML4-ALK fusion gene product is involved in the carcinogenesis of a subset of NSCLCs..     ///    \"No somatic mutations were detected in the mutation cluster regions of the EGFR, K-RAS, and PIK3CA genes in these two carcinomas, however, a Pro177Ser mutation of the p53 gene was detected in the carcinoma that contained the variant 1 EML4-ALK fusion transcripts. \"    ///    \"EML4-ALK fusion transcripts, but no NPM-, TPM3-, CLTC-, ATIC-, or TFG-ALK fusion transcripts, in non-small cell lung carcinomas.. \"    ///    \"Although no expression of NPM-, TPM3-, CLTC-, ATIC-, or TFG-ALK fusion transcripts were detected in any of the cases, expression of EML4-ALK fusion transcripts was detected in two (2.6%) of the 77 NSCLCs. \"    ///    \"Although no expression of NPM-, TPM3-, CLTC-, ATIC-, or TFG-ALK fusion transcripts were detected in any of the cases, expression of EML4-ALK fusion transcripts was detected in two (2.6%) of the 77 NSCLCs.\"'), ('2563', 'EML4_ALK', '', 'EML4', 'ALK', '22707299', '139', 'lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Previous studies have revealed that EGFR mutation and/or EML4-ALK gene fusion rate was higher in the non-smoker Asian females with pulmonary adenocarcinoma.     ///    \"104 consecutively resected lung adenocarcinomas from 396 non-smoker females (less than 100 cigarettes in a lifetime) at a single institution (Tongji University, Shanghai, China) were analyzed for mutations in EGFR, EML4-ALK, KRAS, HER2, BRAF, and PIK3CA. \"    ///    \"A majority of the mutations were mutually exclusive, except two with EGFR mutation and BRAF mutation, one with EML4-ALK fusions and PI3K mutation. \"    ///    \"10 (9.6 %) harbored EML4-ALK fusions, two harbored KRAS mutations, two harbored BRAF mutations, and two harbored PI3K mutations. \"'), ('2564', 'NAB2_STAT6', '', 'NAB2', 'STAT6', '26022454', '139', 'solitary fibrous tumor\r\r', 'RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Solitary fibrous tumors, which are characterized by their broad morphological spectrum and unpredictable behavior, are rare mesenchymal neoplasias that are currently divided into three main variants that have the NAB2-STAT6 gene fusion as their unifying molecular lesion: usual, malignant and dedifferentiated solitary fibrous tumors.    ///    \" Solitary fibrous tumors, which are characterized by their broad morphological spectrum and unpredictable behavior, are rare mesenchymal neoplasias that are currently divided into three main variants that have the NAB2-STAT6 gene fusion as their unifying molecular lesion: usual, malignant and dedifferentiated solitary fibrous tumors. \"    ///    \"The NAB2/STAT6 fusion was detected in all of the tumors, but immunohistochemistry and western blotting indicated that chimeric protein expression was atypical or absent in 9 out of 11 dedifferentiated tumors. \"'), ('2565', 'NTRK3_ETV6', '', 'NTRK3', 'ETV6', '15801689', '139', 'fibrosarcoma;sarcoma\r\r', '', 'Kinase', '', '', '', '', 'KB', 'Seq', 'In this case report, we present our experience of an infantile fibrosarcoma of thigh with good clinical course 36 months after tumor resection and the usefulness of detecting the ETV6-NTRK3 gene fusion in differential diagnosis.. '), ('2566', 'PAX7_FKHR', '', 'PAX7', 'FKHR', '9787334', '139', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'PAX3-FKHR and PAX7-FKHR gene fusions in rhabdomyosarcoma.. '), ('2567', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '9787334', '139', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'PAX3-FKHR and PAX7-FKHR gene fusions in rhabdomyosarcoma.. '), ('2568', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '19210352', '139', 'hypereosinophilic syndrome', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The Fip1-like-1-platelet-derived growth factor receptor alpha (FIP1L1-PDGFRA) gene fusion is a common cause of chronic eosinophilic leukemia (CEL)/hypereosinophilic syndrome (HES), and patients suffering from this particular subgroup of CEL/HES respond to low-dose imatinib therapy.     ///    \"Sequencing of the FIP1L1-PDGFRA fusion gene revealed the occurrence of a S601P mutation, which is located within the nucleotide binding loop. \"    ///    \"Moreover, sorafenib, which has been described to inhibit T674I mutant FIP1L1-PDGFRA, failed to block S601P mutant FIP1L1-PDGFRA. \"    ///    A novel FIP1L1-PDGFRA mutant destabilizing the inactive conformation of the kinase domain in chronic eosinophilic leukemia/hypereosinophilic syndrome..     ///    We identified a novel mutation in FIP1L1-PDGFRA resulting in both imatinib and sorafenib resistance.     ///    The identification of novel drug-resistant FIP1L1-PDGFRA variants may help to develop the next generation of target-directed compounds for CEL/HES and other leukemias.. '), ('2569', 'DUX4_CIC', '', 'DUX4', 'CIC', '24213312', '139', 'sarcoma\r\r', '', '', '', '', '', '', '', '', ' The present study describes a new case of EWSR1-negative undifferentiated sarcoma with CIC/DUX4 gene fusion.     ///    \"Although additional cases with more extensive follow-up studies are needed, we believe that EWSR1-negative undifferentiated small round cell sarcoma with CIC/DUX4 gene fusion should be added to the list of new sarcoma variants with the possibility of lymph node metastasis.. \"    ///    Superficial EWSR1-negative undifferentiated small round cell sarcoma with CIC/DUX4 gene fusion: a new variant of Ewing-like tumors with locoregional lymph node metastasis.. '), ('2570', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '25728532', '139', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', ' In the United States, half of men with prostate cancer harbor the androgen-regulated gene fusion TMPRSS2:ERG.     ///    We hypothesized that men with TMPRSS2:ERG positive tumors are more responsive to androgen deprivation therapy (ADT).     ///    \"Our results, combined with those from earlier studies, provide suggestive evidence that men with TMPRSS2:ERG positive tumors may have longer prostate cancer survival after ADT. \"'), ('2571', 'NTRK3_ETV6', '', 'NTRK3', 'ETV6', '15695086', '139', 'breast carcinoma;breast carcinoma\r\r', '', 'Kinase', '', '', '', '', 'KB', 'Seq', 'ETV6-NTRK3 gene fusion in a secretory carcinoma of the breast of a male-to-female transsexual..     ///    As confirmation of the histopathological diagnosis we detected the novel ETV6-NTRK3 gene fusion in this tumor..     ///    \"Recently, it has been reported that human secretory breast carcinoma expresses the ETV6-NTRK3 gene fusion that was previously cloned in pediatric mesenchymal cancers. \"'), ('2572', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23578235', '139', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Significance of the TMPRSS2:ERG gene fusion in prostate cancer.. '), ('2573', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23478499', '139', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'The TMPRSS2-ERG gene fusion has provided insight into the early development of prostate cancer but has not been unequivocally associated with aggressive disease. '), ('2574', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '22949099', '139', 'prostate cancer;ductal carcinoma;prostatic intraepithelial neoplasia\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Finally, IDC-P is associated with TMPRSS2-ERG gene fusion, which was reported to be regulated by estrogens and their receptors. '), ('2575', 'TEL_AML1', 't(12;21)  / t(12;21)(p12-13;q22) / ', 'TEL', 'AML1', '8751462', '139', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Lack of TEL-AML1 fusion transcript resulting from a cryptic t(12;21) in adult B lineage acute lymphoblastic leukemia in Taiwan..     ///     Cryptic t(12;21)(p12-13;q22) leading to TEL-AML1 fusion has recently been recognized as the most frequent genetic rearrangement in childhood acute lymphoblastic leukemia (ALL) in Western countries.     ///    \"In this study, we assessed further the frequency of TEL-AML1 fusion as well as that of BCR-ABL in Chinese adults with ALL, using reverse transcriptase-polymerase chain reaction assays. \"    ///    The lack of cases with the TEL-AML1 fusion together with the high frequency of BCR-ABL fusion could largely account for the poorer outcome of adult ALL as compared with childhood ALL..     ///    \"Among the 81 cases with newly diagnosed B lineage ALL studied, none had the TEL-AML1 fusion whereas 30 had the BCR-ABL fusion. \"'), ('2576', 'EWSR1_CREB1', '', 'EWSR1', 'CREB1', '25724038', '139', 'clear cell sarcoma;sarcoma\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', '', 'The etiology of CCSLGT is unknown, but many studies have shown associations with EWSR1-CREB1 gene fusions and, less frequently, with EWSR1-ATF1 fusions. '), ('2577', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '24505269', '139', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', ' The TMPRSS2-ERG gene fusion is found in approximately half of all prostate cancers.     ///    \"Based on a historical watchful waiting cohort, an association between TMPRSS2-ERG, evaluated as positive immune staining, and shorter survival of prostate cancer patients was identified. \"    ///    TMPRSS2-ERG expression predicts prostate cancer survival and associates with stromal biomarkers..     ///    \"The functional and prognostic significance of TMPRSS2-ERG is, however, not fully understood. \"    ///    \"Novel associations between TMPRSS2-ERG and alterations in the tumor stroma, for example, increased vascular density, hyaluronan and PDGFR? and decreased Caveolin-1, all known to be associated with an aggressive disease, were found. \"'), ('2578', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '20713528', '139', 'prostate cancer\r\r', 'PCR', '', '', '', '', '', 'KB', 'Seq', ' TMPRSS2-ERG and other gene fusions involving ETS factors and genes with strong promoter elements are common in prostate cancer. '), ('2579', 'TEL_AML1', '', 'TEL', 'AML1', '22028862', '139', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' ETV6/RUNX1 (E/R) (also known as TEL/AML1) is the most frequent gene fusion in childhood acute lymphoblastic leukemia (ALL) and also most likely the crucial factor for disease initiation.     ///    The leukemia-specific fusion gene ETV6/RUNX1 perturbs distinct key biological functions primarily by gene repression.. '), ('2580', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '22424448', '139', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'The Formal Concept Analysis (FCA) method was applied to assess whether the TMPRSS2-ERG gene fusion could influence the degree of overexpression of PRDX3 and PRDX4 in prostate cancer.     ///    Reverse phase protein arrays verified that the overexpression of both PRDX3 and PRDX4 in tumor samples is negatively correlated with the presence of the TMPRSS2-ERG gene fusion. '), ('2581', 'FN1_FGFR1', '', 'FN1', 'FGFR1', '26407099', '139', '', '', 'Kinase', '', '', '', '', '', '', 'Recently, a novel FN1-FGFR1 gene fusion has been described in a subset of PMTs.     ///    \"Our findings indicate that up-regulation of FGFR1 in phosphaturic mesenchymal tumours can occur via mechanisms other than FN1-FGFR1 fusion, raising the possibility of FGFR1 overexpression being a potential common pathway with pathophysiological and therapeutic implications.. \"'), ('2582', 'DUX4_CIC', '', 'DUX4', 'CIC', '26386605', '139', 'neurofibroma', '', '', '', '', '', '', '', '', 'Ewing-like sarcoma with CIC-DUX4 gene fusion in a patient with neurofibromatosis type 1.     ///     Sarcoma with CIC-DUX4 gene fusion is emerging as the most prevalent subset of Ewing-like undifferentiated small round cell sarcomas with around 50 cases published.     ///    This is the first case of sarcoma with CIC-DUX4 gene fusion reported in a patient with NF1.     ///    Whether this association is coincidental or CIC-DUX4 sarcomas could be related to NF1 remains to be clarified.     ///    \"Study of alternative molecular alterations in EWSR1-negative undifferentiated small round cell sarcomas is clinically relevant, since CIC-DUX4 sarcomas seem to be a very aggressive subset with poor response to the presently used therapeutic regimens. \"    ///    We report hereby the case of a 40-year-old male who presented a CIC-DUX4 sarcoma in deep soft tissues in his thigh.     ///    \"The CIC-DUX4 sarcoma was treated with surgical resection, radiation and chemotherapy, but lung and brain metastases developed and the patient died from the disease 14 months after diagnosis. \"'), ('2583', 'MYC_IG', 't(8;14)(q24;q32) / t(14;18)(q32;q21) / t(3;22)(q27;q11) / ', 'MYC', 'IG', '14979479', '139', 'B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Long-distance and long-distance inverse polymerase chain reaction assays to detect the oncogene/Ig gene rearrangement revealed that the cells carried 3 independent fusion genes, namely, c-MYC/Ig heavy chain gene (IgH), BCL2/IgH, and Ig lambda light chain gene/BCL6. '), ('2584', 'SYT_SSX', '', 'SYT', 'SSX', '10102352', '139', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', '18) SYT-SSX gene fusion was positive. '), ('2585', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '20068566', '139', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', ' Recent studies have indicated that prostate cancer patients with the TMPRSS2-ERG gene fusion have a higher risk of recurrence.     ///    Prostate cancer genes associated with TMPRSS2-ERG gene fusion and prognostic of biochemical recurrence in multiple cohorts..     ///    \"RNA from radical prostatectomy tumour specimens was analysed using cDNA-mediated, annealing, selection, extension and ligation (DASL) to determine mRNAs associated with TMPRSS2-ERG T1/E4 fusion and prognostic of biochemical recurrence. \"    ///    \"TMPRSS2-ERG T1/E4 fusion-positive tumours had differentially regulated mRNAs observed in multiple studies, the most significant one coded for ERG. \"'), ('2586', 'PAX7_FOXO1', '', 'PAX7', 'FOXO1', '24618610', '139', 'rhabdomyosarcoma;sarcoma\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'The majority of ARMS contain a PAX3-FOXO1 or PAX7-FOXO1 gene fusion, but about 20% do not. '), ('2587', 'PAX3_FOXO1', '', 'PAX3', 'FOXO1', '24618610', '139', 'rhabdomyosarcoma;sarcoma\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'The majority of ARMS contain a PAX3-FOXO1 or PAX7-FOXO1 gene fusion, but about 20% do not. '), ('2588', 'SYT_SSX', '', 'SYT', 'SSX', '17275707', '139', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Molecular analysis confirmed the diagnosis of synovial sarcoma with positive t (X;18) SYT-SSX gene fusion. '), ('2589', 'SUZ12_JAZF1', '', 'SUZ12', 'JAZF1', '24750188', '139', 'endometrial stromal sarcoma;sarcoma\r\r', '', '', '', '', '', '', 'KB', '', 'Both lesions demonstrated identical cytology and shared JAZF1-SUZ12 gene fusion.     ///    \"At present, subsets of ESN and ESS-low grade (ESS-LG) are characterized as JAZF1-SUZ12/JJAZ1 gene fusion. \"    ///    Colonic low-grade endometrial stromal sarcoma and orthotopic endometrial stromal tumor with limited infiltration sharing the JAZF1-SUZ12 gene fusion.. '), ('2590', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '20145164', '139', '', '', '', '', '', '', '', 'KB', 'Seq', 'Studies of TMPRSS2-ERG gene fusions in diagnostic trans-rectal prostate biopsies.. '), ('2591', 'SLC34A2_ROS1', '', 'SLC34A2', 'ROS1', '25384172', '139', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The expressed ROS1-SLC34A2 and CCDC6-RET gene fusions from the NSCLC cell lines HCC78 and LC-2/ad, respectively, were accurately detected by the novel assay. '), ('2592', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '22505341', '139', 'prostate cancer;adenocarcinoma\r\r', 'PCR', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2-ERG is the most common gene fusion in PCa, whereas activation of telomerase is a common feature of various malignancies.     ///    \"The cases negative for both transcripts, TMPRSS2-ERG and TERT, rarely recurred (P=0.014) and showed significantly longer biochemical recurrence-free period (P=0.022) as compared to the TMPRSS2-ERG and/or TERT-positive cases. \"    ///    The results of our study suggest that combined analysis of TMPRSS2-ERG and TERT expression can be a valuable tool for early prediction of biochemical recurrence of PCa after radical prostatectomy..     ///    \"In total, 74% (117/158) of the prostate adenocarcinomas were positive for the TMPRSS2-ERG and/or TERT expression. \"    ///    Combined analysis of TMPRSS2-ERG and TERT for improved prognosis of biochemical recurrence in prostate cancer.. '), ('2593', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '22421313', '139', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'The androgen-regulated gene fusion TMPRSS2-ERG could be used to clarify both the cells of origin and the evolution of prostate cancer cells. '), ('2594', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '24054868', '139', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Consistent with the notion of CACNA1D as an ERG-regulated gene, CACNA1D gene expression levels were significantly higher in prostate cancers with TMPRSS2-ERG gene fusion compared with the cases without this gene fusion. '), ('2595', 'LYN_ETV6', '', 'LYN', 'ETV6', '27058227', '139', 'lymphoma\r\r', '', 'Kinase', '', '', '', '', '', '', 'Myeloproliferative neoplasm with eosinophilia and T-lymphoblastic lymphoma with ETV6-LYN gene fusion.. '), ('2596', 'SYT_SSX', '', 'SYT', 'SSX', '25873878', '139', '', '', '', '', '', '', '', '', '', 'Therefore, the diagnosis of primary renal SCS not only requires the exclusion of similar tumor types, but also a confirmation of SYT-SSX gene fusion using molecular techniques. '), ('2597', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '20598135', '139', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'CTCs were successfully enriched and detected in men with advanced prostate cancer using an immunomagnetic enrichment procedure coupled with amplified molecular assays for PSA, PCA3, and TMPRSS2:ERG gene fusion mRNAs.     ///    \"The purpose of our study was to investigate an immunomagnetic fractionation procedure to enrich circulating prostate tumor cells (CTCs) from peripheral blood specimens, and to apply amplified molecular assays for the detection of prostate-specific markers (PSA, PCA3 and TMPRSS2:ERG gene fusion mRNAs). \"'), ('2598', 'MECT1_MAML2', '', 'MECT1', 'MAML2', '16825514', '139', '', '', '', '', '', '', '', '', '', 'The MECT1-MAML2 gene fusion and benign Warthin\'s tumor: is the MECT1-MAML2 gene fusion specific to mucuepidermoid carcinoma?. '), ('2599', 'KIAA1549_BRAF', '', 'KIAA1549', 'BRAF', '25720745', '139', 'leptomeningeal neoplasms', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'High rate of concurrent BRAF-KIAA1549 gene fusion and 1p deletion in disseminated oligodendroglioma-like leptomeningeal neoplasms (DOLN).. '), ('2600', 'ESRRA_C11orf20', '', 'ESRRA', 'C11orf20', '24504521', '139', 'prostate cancer\r\r', 'PCR', '', '', '', 'Receptor', '', '', '', 'We conclude that the frequency of the ESRRA/C11orf20 gene fusion in serous ovarian carcinomas of stages III and IV must be considerable less than that reported previously (0/163 in our experience compared with 10/67 in the previous study).     ///    Low frequency of ESRRA-C11orf20 fusion gene in ovarian carcinomas..     ///    \"in 2011, who used deep paired-end sequencing to detect the fusion gene ESRRA-C11orf20 in 10 out of 67 (15%) serous ovarian carcinomas examined, a finding that holds great promise for our understanding of ovarian tumorigenesis as well as, potentially, for new treatment strategies. \"    ///    \"We wanted to test how frequent the ESRRA/C11orf20 fusion is in ovarian carcinomas of all subtypes, and therefore examined a series of 230 ovarian carcinomas of which 197 were of the serous subtype and 163 of the 197 were of stages III and IV--that is, the very same carcinoma subset where the fusion transcript had been found. \"    ///    \"We used the same primers described previously for the detection of the fusion and the same primer combination, but found no ESRRA/C11orf20 fusion in our series. \"    ///    A synthetic DNA plasmid containing the reported ESRRA/C11orf20 fusion was included as a positive control for our PCR experiments. '), ('2601', 'STAT6_NAB2', '', 'STAT6', 'NAB2', '26883114', '139', 'hemangiopericytoma;solitary fibrous tumor', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'NAB2-STAT6 Gene Fusion in Meningeal Hemangiopericytoma and Solitary Fibrous Tumor..     ///    \"They harbor NAB2-STAT6 fusions similar to their soft tissue counterparts, supporting the view that they are part of a tumor continuum. \"    ///    \"NAB2-STAT6 fusions were identified in 20 cases, including 7 with exon 4-exon 3, 9 with exon 6-exon 17, and 4 with exon 6-exon 18 fusions. \"    ///    \"Thus, despite their clinical and morphologic differences, meningeal-based SFTs, HPCs, and tumors with intermediate features, similar to their soft tissue counterparts, form a histopathologic spectrum unified by STAT6 immunoexpression and NAB2-STAT6 fusion. \"'), ('2602', 'BCR_ABL1', '', 'BCR', 'ABL1', '26910070', '139', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Imatinib mesylate (IM), a competitive inhibitor of BCR/ABL1 tyrosine kinase activity, is the current standard therapy for chronic myeloid leukaemia (CML) which is caused by the BCR/ABL1 gene fusion encoding a constitutively active tyrosine kinase.     ///    \"Usually, IM resistance is due to the presence of BCR-ABL1 mutations but in many cases resistance is far from being completely understood or from being satisfactorily addressed from a therapeutic standpoint. \"'), ('2603', 'EML4_ALK', '', 'EML4', 'ALK', '26200269', '139', 'mucinous carcinoma', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Within the KRAS-negative cases, we found numerous potentially targetable gene fusions and mutations, including CD74-NRG1, VAMP2-NRG1, TRIM4-BRAF, TPM3-NTRK1, and EML4-ALK gene fusions and ERBB2, BRAF, and PIK3CA mutations. '), ('2604', 'NTRK3_ETV6', '', 'NTRK3', 'ETV6', '21934478', '139', '', '', 'Kinase', '', '', '', '', 'KB', 'Seq', 'Mammary analogue secretory carcinoma of the salivary glands with ETV6-NTRK3 gene fusion.. '), ('2605', 'SYT_SSX1', '', 'SYT', 'SSX1', '20109354', '139', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'SYT-SSX1 gene fusion was detected in the 2 cases in which RT-PCR analysis was performed. '), ('2606', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '25852077', '139', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Obesity and Prostate Cancer Risk According to Tumor TMPRSS2:ERG Gene Fusion Status.. '), ('2607', 'PAL2_GUS', '', 'PAL2', 'GUS', '11446995', '139', '', '', '', '', '', '', '', '', '', ' To elucidate heterologous promoter function in gymnosperms, we introduced the bean phenylalanine ammonia-lyase-beta-glucuronidase (PAL2-GUS) gene fusion into white pine (Pinus strobus L.).     ///    \"However, pretreatment of suspension cultures with SA or JA enhanced the induction of PAL2-GUS expression by UV irradiation. \"'), ('2608', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23849895', '139', 'prostate cancer;adenocarcinoma\r\r', '', '', '', '', '', '', 'KB', 'Seq', ' TMPRSS2-ERG is the most common gene fusion in conventional prostatic adenocarcinoma (PCa), identified in about 40% to 70% of cases. '), ('2609', 'SYT_SSX2', '', 'SYT', 'SSX2', '18384223', '139', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'A subsequent molecular analysis revealed SYT-SSX2 gene fusion, which confirmed the diagnosis of synovial sarcoma. '), ('2610', 'STAT6_NAB2', '', 'STAT6', 'NAB2', '26657311', '139', 'meningeal tumor;solitary fibrous tumor', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' The term solitary fibrous tumor (SFT) is preferred over meningeal hemangiopericytoma (HPC), because NAB2-STAT6 gene fusion has been observed in both intracranial and extracranial HPCs. '), ('2611', 'STAT6_NAB2', '', 'STAT6', 'NAB2', '23925976', '139', 'nerve sheath tumor', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'At present there is considerable progress in tumor pathology illustrated by the fact that important new findings have been published after completion of the classification, such as those related to the identification of the recurrent NAB2-STAT6 gene fusion in solitary fibrous tumors and the detection of frequent mutations in the promoter of the hTERT gene in malignant melanoma. '), ('2612', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '24418414', '139', 'prostate cancer\r\r', 'PCR', '', '', '', '', '', 'KB', 'Seq', 'We found that NKX3.1 directly binds to TMPRSS2 upstream sequences and negatively regulates the expression of the ERG protooncogene through the TMPRSS2-ERG gene fusion.     ///    \"Although, the androgenic activation of TMPRSS2 gene has been established, little is known about other elements that may interact with TMPRSS2 promoter sequences to modulate ERG expression in TMPRSS2-ERG gene fusion context. \"'), ('2613', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '17628645', '139', 'leukemia;systemic mastocytosis\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'These results reinforce the hypothesis that the FIP1L1/PDGFRA gene fusion and D816V-KIT mutation cause distinct clinical syndromes.     ///    \" The broad and overlapping clinical manifestations of D816V KIT-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-associated chronic eosinophilic leukemia (CEL), coupled with the increase in activated eosinophils and mast cells seen in both disorders, have led to confusion in the nomenclature. \"    ///    \"Thirty-four FIP1L1/PDGFRA-positive patients described in the literature were also classified using this system, and although a complete set of data was not available for any of the historical patients, 21 were correctly classified. \"    ///    We compared 12 patients with D816V-positive systemic mastocytosis with eosinophilia with 17 patients with FIP1L1/PDGFRA-positive CEL.     ///    This system correctly classified 16 of 17 FIP1L1/PDGFRA-positive patients with CEL and all 12 patients with systemic mastocytosis with eosinophilia.     ///    KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-associated chronic eosinophilic leukemia are distinct entities.. '), ('2614', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '25117044', '139', 'leukemia;hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Polymerase chain reaction showed the presence of the gene fusion product FIP1L1/PDGFRA.     ///    \"However, the dramatic response to imatinib emphasizes the need to study the presence of the fusion product FIP1L1/PDGFRA in all patients with eosinophilia of unknown etiology. \"'), ('2615', 'NTRK1_LMNA', '', 'NTRK1', 'LMNA', '26863915', '139', 'angioleiomyoma', '', 'Kinase', '', '', '', '', '', '', 'Following detection of a LMNA-NTRK1 gene fusion in an index case of paediatric haemangiopericytoma-like sarcoma by combined whole-genome and RNA sequencing, we identified three additional sarcomas harbouring NTRK1 gene fusions, termed \'spindle cell sarcoma, NOS with myo/haemangiopericytic growth pattern\'. '), ('2616', 'SND1_BRAF', '', 'SND1', 'BRAF', '25189356', '139', 'prostate cancer\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'From this genome-wide approach, mutations were found in a series of genes with prostate cancer relevance, including AR, NCOR1, KDM3A, KDM4A, CHD1, SETD5, SETD7, INPP4B, RASGRP3, RASA1, TP53BP1, and CDH1, and a novel SND1:BRAF gene fusion. '), ('2617', 'ZNF384_EP300', '', 'ZNF384', 'EP300', '25943178', '139', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'A novel recurrent EP300-ZNF384 gene fusion in B-cell precursor acute lymphoblastic leukemia.. '), ('2618', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '20147525', '139', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', '1{alpha},25-Dihydroxyvitamin D3 inhibits growth of VCaP prostate cancer cells despite inducing the growth-promoting TMPRSS2:ERG gene fusion..     ///    \"However, the effects of VDR activation have not been examined in the presence of the recently identified androgen-regulated TMPRSS2:ERG gene fusions, which occur in a high percentage of prostate cancers and play a role in growth and invasiveness. \"    ///    \"In VCaP cells, we were not able to prevent EB1089-mediated TMPRSS2:ERG induction with an androgen receptor antagonist, Casodex, although in LNCaP cells, as reported for some other common androgen receptor and VDR target genes, Casodex reduces EB1089-mediated induction of TMPRSS2. \"    ///    \"Here we show that the natural VDR agonist 1alpha,25-dihydroxyvitamin D(3) and its synthetic analog EB1089 increase expression of TMPRSS2:ERG mRNA in VCaP prostate cancer cells. \"'), ('2619', 'RET_CCDC6', '', 'RET', 'CCDC6', '25384172', '139', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The expressed ROS1-SLC34A2 and CCDC6-RET gene fusions from the NSCLC cell lines HCC78 and LC-2/ad, respectively, were accurately detected by the novel assay. '), ('2620', 'NUP98_HOXD13', '', 'NUP98', 'HOXD13', '21494261', '139', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'Backtracking to birth of the NUP98-HOXD13 gene fusion in an infant acute myeloid leukemia.. '), ('2621', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '26941365', '139', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'The TMPRSS2:ERG gene fusion occurs in roughly 50% of prostate cancers.     ///    Association of Prostate Cancer Risk Variants with TMPRSS2:ERG Status: Evidence for Distinct Molecular Subtypes.. '), ('2622', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23158212', '139', 'prostatic intraepithelial neoplasia\r\r', '', '', '', '', '', '', 'KB', 'Seq', ' Immunohistochemical (IHC) staining for ERG is used as a surrogate for TMPRSS2-ERG gene fusion, a specific molecular event seen in ~50% of prostate carcinomas (PCas) and ~20% of high-grade prostatic intraepithelial neoplasia (HGPIN) intermingled with adjacent PCa demonstrating identical gene fusions. '), ('2623', 'NFIB_MYB', '', 'NFIB', 'MYB', '23960983', '139', 'adenoid cystic carcinoma;salivary gland cancer\r\r', '', '', '', '', '', '', 'KB', '', '(2) recent analysis of the MYB-NFIB gene fusion in adenoid cystic carcinoma, and. '), ('2624', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '26026052', '139', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'The TMPRSS2-ERG Gene Fusion Blocks XRCC4-Mediated Nonhomologous End-Joining Repair and Radiosensitizes Prostate Cancer Cells to PARP Inhibition..     ///    We reported that radiosensitization by a PARP inhibitor (PARPi) was highly prominent in prostate cancer cells expressing the TMPRSS2-ERG gene fusion protein.     ///    DNA-PKcs deficiency caused by TMPRSS2-ERG destabilized critical NHEJ components on chromatin.     ///    \"However, the presence of TMPRSS2-ERG, by inhibiting NHEJ DNA repair, enhanced PARPi-mediated radiosensitization. \"    ///    \"VCaP cells, which harbor TMPRSS2-ERG and PC3 cells that stably express it, displayed ?H2AX and 53BP1 foci constitutively, indicating persistent DNA damage that was absent if TMPRSS2-ERG was depleted by siRNA in VCaP cells. \"    ///    DNA-PKcs autophosphorylation was restored to the level of parental cells when TMPRSS2-ERG was depleted by siRNA.     ///    \"The extent of DNA damage was enhanced and associated with TMPRSS2-ERG\'s ability to inhibit DNA-PKcs function, as indicated by its own phosphorylation (Thr2609, Ser2056) and that of its substrate, Ser1778-53BP1. \"    ///    \"Therefore, by inhibiting NHEJ, TMPRSS2-ERG provides a synthetic lethal interaction with PARPi in prostate cancer patients expressing TMPRSS2-ERG.. \"    ///    \"Here, we show that TMPRSS2-ERG blocks nonhomologous end-joining (NHEJ) DNA repair by inhibiting DNA-PKcs. \"'), ('2625', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23565244', '139', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'VCaP cells, which harbor the TMPRSS2-ERG gene fusion and PC3 cells that stably express a similar construct (fusion III) showed enhanced sensitivity towards rucaparib, which, in turn, increased the radiation response to a similar extent as the DNA-PKcs inhibitor NU7441.     ///    \"This combination was most effective in the presence of the TMPRSS2-ERG and in the absence of PTEN, indicating clinical potential for brachytherapy in patients with intermediate and high risk PCa.. \"'), ('2626', 'TEL_AML1', '', 'TEL', 'AML1', '24910748', '139', 'precursor B cell leukemia', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' ETV6/RUNX1 (also known as TEL/AML1) is the most frequent gene fusion in childhood acute lymphoblastic leukemia (ALL).     ///    \"Moreover, reverse transcriptase polymerase chain reaction (RT-PCR) technique was used to amplify transcripts of leukemia-specific chromosome fusion gene ETV6/RUNX1 and to monitor the expression levels of the ETV6/RUNX1 in patients according to Van Dongen et al protocol. \"    ///    Prevalence of ETV6/RUNX1 Fusion Gene in Pediatric Patients with Acute Lymphoblastic Leukemia in Iran..     ///    The ETV6/RUNX1 fusion gene is a common genetic anomaly in Iranian childhood ALL patients and the prevalence of the ETV6/RUNX1 fusion gene is similar to that of ALL patients in other countries.     ///    The incidence of ETV6/RUNX1 fusion gene in this study was 34.9%.     ///    The most positive cases of ETV6/RUNX1 fusion gene had the early pre B ALL and pre B ALL immunophenotypes.     ///    The laboratory and clinical features of twenty two ETV6/RUNX1 positive ALL cases were similar to those of other studies. '), ('2627', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '24768356', '139', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'We discuss the genetic basis of CaP progression from localized to systemic disease (e.g., point mutations, copy-number alterations, and structural variants) in relation with unique features of CaP biology, including intraprostatic and interprostatic heterogeneity, multifocality and multiclonality, TMPRSS2:ERG, and other ETS-family gene fusions. '), ('2628', 'TACC3_FGF3', '', 'TACC3', 'FGF3', '26022204', '139', 'biliary tract cancer', '', '', '', '', '', '', '', '', 'One patient developed HER2/neu amplification as a secondary event after FGFR-directed therapy for FGF3-TACC3 gene fusion. '), ('2629', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '22944561', '139', 'polycythemia vera\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'However, after treatment with hydroxyurea and serial phlebotomies had been started, the patient developed hypereosinophilia, fitting the category of a myeloproliferative neoplasm with eosinophilia associated with the FIP1L1-PDGFRA gene fusion, as confirmed by molecular analysis. '), ('2630', 'HER2_GRB7', '', 'HER2', 'GRB7', '23714731', '139', 'breast cancer\r\r', '', '', '', '', '', '', '', '', 'HER2 alterations occur in 27% of the cases, including 4 cases with activating HER2 mutations and 1 with a novel HER2-GRB7 gene fusion. '), ('2631', 'TEL_AML1', '', 'TEL', 'AML1', '15630450', '139', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'We measured in vivo MTXPG accumulation in leukemia cells from 101 children with acute lymphoblastic leukemia (ALL) and established that B-lineage ALL with either TEL-AML1 or E2A-PBX1 gene fusion, or T-lineage ALL, accumulates significantly lower MTXPG compared with B-lineage ALL without these genetic abnormalities or compared with hyperdiploid (fewer than 50 chromosomes) ALL.     ///    \"We found significantly lower expression of the reduced folate carrier (SLC19A1, an MTX uptake transporter) in E2A-PBX1 ALL, significantly higher expression of breast cancer resistance protein (ABCG2, an MTX efflux transporter) in TEL-AML1 ALL, and lower expression of FPGS (which catalyzes formation of MTXPG) in T-lineage ALL, consistent with lower MTXPG accumulation in these ALL subtypes. \"'), ('2632', 'EWSR1_ATF1', '', 'EWSR1', 'ATF1', '26586017', '139', 'neuroectodermal tumor', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'The presence EWSR1-ATF1 gene fusions with any melanocytic differentiation leads to the diagnosis of GNET. '), ('2633', 'FUS_CREB3L2', '', 'FUS', 'CREB3L2', '26276044', '139', 'sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Most LGFMSs harbor a characteristic gene fusion of FUS-CREB3L2, and recently MUC4 immunostaining has been found to be highly sensitive and specific for the diagnosis. '), ('2634', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '26327566', '139', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' The ETV6/RUNX1 gene fusion defines the largest genetic subgroup of childhood ALL with overall rapid treatment response.     ///    Genetic alterations in glucocorticoid signaling pathway components are associated with adverse prognosis in children with relapsed ETV6/RUNX1-positive acute lymphoblastic leukemia.. '), ('2635', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '26990456', '139', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', ' The TMPRSS2-ERG gene fusion is detected in approximately half of primary prostate cancers (PCa) yet the prognostic significance remains unclear. '), ('2636', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '22674214', '139', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'The TMPRSS2:ERG gene fusion was found in 8.3% of the BPH, 15.6% of the NP, and 50% of the PCa samples.     ///     The prostate cancer gene 3 (PCA3) and TMPRSS2:ERG gene fusion are promising prostate cancer (PCa) specific biomarkers.     ///    Rational basis for the combination of PCA3 and TMPRSS2:ERG gene fusion for prostate cancer diagnosis..     ///    \"Our aim was to simultaneously quantify the expression levels of PCA3 and TMPRSS2:ERG in a panel of benign prostatic hyperplasia (BPH), normal prostate adjacent to PCa (NP) and PCa tissue samples, to provide a rational basis for the understanding of the false-positive and false-negative results of the urine assays. \"    ///    \"The mRNA was isolated, transcribed into cDNA and the relative expressions of PCA3 and TMPRSS2:ERG were measured using a quantitative real-time polymerase chain reaction. \"    ///    Some of the control samples did express TMPRSS2:ERG and a cut-off value had to be defined to avoid false-positive results..     ///    The expression levels of PCA3 and TMPRSS2:ERG were compared between the different groups.     ///    \"The use of TMPRSS2:ERG in the PCA3 negative cases allowed diagnosis of four of the seven false-negative samples and added one false-positive, but we had to define a cut-off value to avoid eight false-positive results. \"    ///    \"Considering tissue expression of the markers, most of the false-negative results of the PCA3 test were corrected by TMPRSS2:ERG (57%) and the combination of both had a higher sensitivity for PCa diagnosis. \"'), ('2637', 'TBL1XR1_HMGA1', 't(3;6)(q26;p21) / t(3;6)  / ', 'TBL1XR1', 'HMGA1', '26708416', '139', '', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', 'Genomic PCR confirmed the presence of the TBL1XR1-HMGA1 fusion gene, and RT-PCR together with Sanger sequencing verified the presence of the fusion transcripts.     ///    \" RNA-sequencing of a splenic hemangioma with the karyotype 45~47,XX,t(3;6)(q26;p21) showed that this translocation generated a chimeric TBL1XR1-HMGA1 gene. \"    ///    \"In the TBL1XR1-HMGA1 fusion transcript, furthermore, untranslated exons of HMGA1 are replaced by the first 5 exons of the TBL1XR1 gene. \"    ///    \"This is the first time that this tumor has been subjected to genetic analysis, but the finding of an acquired clonal chromosome abnormality in cells cultured from the lesion and the presence of the TBL1XR1-HMGA1 fusion in them strongly favor the conclusion that splenic hemangiomas are of a neoplastic nature. \"'), ('2638', 'RARA_BCOR', 'p11;q12 / ', 'RARA', 'BCOR', '20807888', '139', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', 'Tumor_suppressor', 'Receptor', 'Transcription_Factor', '', '', 'Here, we identified a novel RARA fusion transcript, BCOR-RARA, in a t(X;17)(p11;q12) variant of APL with unique morphologic features, including rectangular and round cytoplasmic inclusion bodies.     ///    (3) retinoid X receptor alpha is necessary for BCOR-RARA to associate with the RARA responsive element.     ///    BCOR-RARA was found to possess common features with other RARA fusion proteins. '), ('2639', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '18059348', '139', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'The development of a new method for analyzing expression microarray data, called COPA, has led to the discovery of TMPRSS2-ERG gene fusion involvement in the development of prostate cancer, while expression analysis of castration-resistant prostate cancer has suggested the use of novel therapeutic approaches for advanced disease. '), ('2640', 'NTRK1_LMNA', '', 'NTRK1', 'LMNA', '26563356', '139', 'fibrosarcoma', '', 'Kinase', '', '', '', '', '', '', 'Evaluation of a Congenital Infantile Fibrosarcoma by Comprehensive Genomic Profiling Reveals an LMNA-NTRK1 Gene Fusion Responsive to Crizotinib.. '), ('2641', 'EWSR1_CREB1', '', 'EWSR1', 'CREB1', '25927151', '139', 'fibrous histiocytoma;histiocytoma\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', '', 'Angiomatoid fibrous histiocytoma is associated with 3 characteristic gene fusions, EWSR1-CREB1 and EWSR1-ATF1, which are also described in other neoplasms, and rarely FUS-ATF1.     ///    \"To review the current status of AFH, discussing putative etiology, histopathology with variant morphology and differential diagnosis, and current genetics, including overlap with other tumors harboring EWSR1-CREB1 and EWSR1-ATF1 fusions. \"'), ('2642', 'EWS_CHN', '', 'EWS', 'CHN', '19309044', '139', 'multiple pulmonary nodules', '', '', '', '', '', '', '', '', 'The EWS-CHN gene fusion is highly specific to extraskeletal myxoid chondrosarcoma. '), ('2643', 'SQSTM1_NUP214', '', 'SQSTM1', 'NUP214', '20851865', '139', '', '', 'Kinase', '', '', '', '', '', '', 'SQSTM1-NUP214: a new gene fusion in adult T-cell acute lymphoblastic leukemia.. '), ('2644', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '24173542', '139', 'dermatofibrosarcoma protuberans;sarcoma\r\r', '', '', 'Oncogene', '', '', '', 'KB', '', 'COL1A1-PDGFB gene fusion is frequent in DFSP, rendering tumor cell proliferation and survival dependent on PDGFR? (platelet-derived growth factor receptor ?) signaling. '), ('2645', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '24292212', '139', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'These results suggest that obesity is linked with poorer prostate cancer prognosis primarily in men with tumors harboring the gene fusion TMPRSS2:ERG..     ///     TMPRSS2:ERG is a hormonally regulated gene fusion present in about half of prostate tumors.     ///    \"We investigated whether obesity, which deregulates several hormonal pathways, interacts with TMPRSS2:ERG to impact prostate cancer outcomes. \"    ///    ERG overexpression (a TMPRSS2:ERG marker) was assessed by immunohistochemistry of tumor tissue from radical prostatectomy or transurethral resection of the prostate.     ///    Modification of the association between obesity and lethal prostate cancer by TMPRSS2:ERG.. '), ('2646', 'TPM3_NTRK1', '', 'TPM3', 'NTRK1', '26200269', '139', 'mucinous carcinoma', '', 'Kinase', '', '', '', '', 'KB', 'Seq', 'Within the KRAS-negative cases, we found numerous potentially targetable gene fusions and mutations, including CD74-NRG1, VAMP2-NRG1, TRIM4-BRAF, TPM3-NTRK1, and EML4-ALK gene fusions and ERBB2, BRAF, and PIK3CA mutations. '), ('2647', 'MLL_CBP', 't(11;16)(q23;p13) / t(11;16) / ', 'MLL', 'CBP', '10679915', '139', 'fanconi anemia', '', '', '', '', '', '', '', '', 'MLL-CBP fusion transcript in a therapy-related acute myeloid leukemia with the t(11;16)(q23;p13) which developed in an acute lymphoblastic leukemia patient with Fanconi anemia..     ///    We conclude that this FA patient developed ALL followed by a therapy-related t(11;16)-AML resulting in an MLL-CBP fusion.     ///    \"An MLL gene rearrangement and MLL-CBP chimeric mRNA were found in AML, but not in ALL. \"'), ('2648', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '26986253', '139', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', ' Experimental studies have shown androgen receptor stimulation to facilitate formation of the TMPRSS2:ERG gene fusion in prostate cell lines.     ///    No study has tested whether higher pre-diagnostic circulating sex hormone levels in men increase risk of developing TMPRSS2:ERG-positive prostate cancer specifically.     ///    These findings provide some suggestive evidence that higher pre-diagnostic free testosterone levels are associated with an increased risk of developing TMPRSS2:ERG-positive prostate cancer..     ///    \"We examined associations between pre-diagnostic circulating levels of total testosterone, free testosterone, DHT, androstanediol glucuronide, estradiol, and SHBG and risk of prostate cancer by TMPRSS2:ERG status. \"    ///    TMPRSS2:ERG was estimated by ERG immunohistochemistry. '), ('2649', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '17224639', '139', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2:ERG gene fusion a new genetic marker for prostate cancer progression.. '), ('2650', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '19013008', '139', 'prostatic intraepithelial neoplasia', '', '', '', '', '', '', 'KB', 'Seq', 'The TMPRSS2-ERG gene fusion recently reported as a potentially aggressive molecular subtype of PCa is regulated by ER-dependent signalling.     ///    TMPRSS2-ERG expression has been found to be increased by ERalpha agonist (oestrogens) and decreased by ERbeta agonists. ');
INSERT INTO `ChimerPub_dump` VALUES ('2651', 'FUS_CREB3L2', '', 'FUS', 'CREB3L2', '25183312', '139', 'sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Deeply located low-grade fibromyxoid sarcoma with FUS-CREB3L2 gene fusion in a 5-year-old boy with review of literature..     ///    \"Despite the young age, this patient was accurately diagnosed by the typical histology and the detection of a FUS-CREB3L2 gene fusion. \"'), ('2652', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '18256119', '139', 'hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Biopsy and molecular genetic studies confirmed a diffuse infiltrative lesion, with evidence of FIP1L1-PDGFRA gene fusion.     ///    \"This report describes the case of a 58-year-old lady, diagnosed with FIP1L1-PDGFRA positive hypereosinophilic disorder, who subsequently developed symptoms related to an intracranial lesion. \"    ///    FIP1L1-PDGFRA positive chronic eosinophilic leukaemia and associated central nervous system involvement..     ///    \" Interstitial deletion involving chromosome 4q12 generates the novel tyrosine kinase fusion protein encoded by FIP1L1-PDGFRA, which is present in many patients previously labelled as having hypereosinophilic syndrome, initially reported in 2003. \"'), ('2653', 'NPM_ALK', '', 'NPM', 'ALK', '9269795', '139', 'hodgkin disease\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'NPM-ALK gene fusion and Hodgkin\'s disease.. '), ('2654', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '20596054', '139', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2-ERG gene fusion in transition zone prostate cancer.. '), ('2655', 'ETO_AML1', '', 'ETO', 'AML1', '12145712', '139', '', '', '', '', '', '', '', '', '', 'Diagnostic detection of AML1/ETO gene fusion by polymerase chain reaction.. '), ('2656', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '24646496', '139', '', '', '', '', '', '', '', 'KB', 'Seq', 'Words of wisdom: Re: TMPRSS2-ERG gene fusions induce prostate tumorigenesis by modulating microRNA miR-200c.. '), ('2657', 'IRF2BP2_CDX1', '', 'IRF2BP2', 'CDX1', '25907264', '139', 'chondrosarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', '', 'IRF2BP2-CDX1 gene fusion was absent in the analyzed sample.     ///    Recently identified HEY1-NCOA2 and IRF2BP2-CDX1 gene fusions confirm their distinct molecular origin and pose a promising diagnostic marker. '), ('2658', 'CD38_BST1', '4p15.32 / ', 'CD38', 'BST1', '24634087', '139', 'asthma\r\r', '', '', '', '', '', '', '', '', 'The younger sister, who also had asthma, inherited a maternal deletion of 4p15.32 that results in a BST1-CD38 fusion transcript. '), ('2659', 'EWSR1_ATF1', '', 'EWSR1', 'ATF1', '22510762', '139', 'clear cell sarcoma;fibrous histiocytoma;sarcoma;histiocytoma\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', ' EWSR1-CREB1 and EWSR1-ATF1 are gene fusions of which one or both have now been consistently described in 5 histopathologically and behaviorally diverse neoplasms: angiomatoid fibrous histiocytoma, conventional clear cell sarcoma (of tendons and aponeuroses), clear cell sarcoma-like tumor of the gastrointestinal tract, hyalinizing clear cell carcinoma of the salivary gland, and primary pulmonary myxoid sarcoma.     ///    Tumors with EWSR1-CREB1 and EWSR1-ATF1 fusions: the current status..     ///    We review the clinicopathologic and molecular features of this group of neoplasms unified by the presence of EWSR1-CREB1 and EWSR1-ATF1 genetic fusions..     ///    \"yet, the increasing frequency with which EWSR1-CREB1 and EWSR1-ATF1 fusions are being described in separate entities is noteworthy. \"'), ('2660', 'BCR_ABL1', '', 'BCR', 'ABL1', '21960589', '139', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'These data show that in childhood Ph(+) ALL, BCR-ABL1 gene fusion can be a prenatal and possibly initiating genetic event.     ///    \"The twin pair concordant for ALL shared identical BCR-ABL1 genomic sequence indicative of monoclonal, in utero origin. \"    ///    Low level BCR-ABL1(+) cells were present in the healthy co-twin but lacked the IKZF1 deletion present in the other twin\'s leukemic cells.     ///    \" The timing and developmental sequence of events for BCR-ABL1(+) acute lymphoblastic leukemia (ALL), usually associated with IKAROS (IKZF1) deletions, are unknown. \"    ///    \"We assessed the status of BCR-ABL1 and IKZF1 genes in 2 pairs of monozygotic twins, one pair concordant, the other discordant for Philadelphia chromosome positive (Ph(+)) ALL. \"    ///    \"In the twin pair discordant for ALL, neonatal blood spots from both twins harbored the same clonotypic BCR-ABL1 sequence. \"    ///    Developmental origins and impact of BCR-ABL1 fusion and IKZF1 deletions in monozygotic twins with Ph+ acute lymphoblastic leukemia.. '), ('2661', 'STAT6_NAB2', '', 'STAT6', 'NAB2', '26136329', '138', 'solitary fibrous tumor\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' Using whole exome and transcriptome sequencing, NAB2-STAT6 gene fusions have recently been identified in patients with solitary fibrous tumors (SFT).     ///    We report two cases of SFT in which NAB2-STAT6 fusions were identified.    ///    We also identified NAB2-STAT6 fusions in two hemangiopericytomas diagnosed in the past with a common variant of NAB2ex6-STAT6ex16/17.     ///    \"NAB2-STAT6 fusions were detected in both cases with a common fusion variant, NAB2ex6-STAT6ex16/17. \"    ///    [Two Cases of Primary Intracranial Solitary Fibrous Tumor:Genetic Examination of <i>NAB2-STAT6</i> Fusion and Its Association with Hemangiopericytoma]..     ///    \"These findings suggest that solitary fibrous tumor and hemangiopericytoma may be diagnosed based on the presence of NAB2-STAT6 fusion, and not classified separately because of the same genetic background.. \"'), ('2662', 'NRG1_CD74', '', 'NRG1', 'CD74', '24469108', '138', 'lung cancer;adenocarcinoma\r\r', '', '', '', '', '', '', '', '', ' We discovered a novel somatic gene fusion, CD74-NRG1, by transcriptome sequencing of 25 lung adenocarcinomas of never smokers.     ///    \"Thus, CD74-NRG1 gene fusions are activating genomic alterations in invasive mucinous adenocarcinomas and may offer a therapeutic opportunity for a lung tumor subtype with, so far, no effective treatment. \"    ///    \"Thus, CD74-NRG1 gene fusions are activating genomic alterations in invasive mucinous adenocarcinomas and may offer a therapeutic opportunity for a lung tumor subtype with, so far, no effective treatment.\"    ///    \"Ectopic expression of CD74-NRG1 in lung cancer cell lines expressing ERBB2 and ERBB3 activated ERBB3 and the PI3K-AKT pathway, and led to increased colony formation in soft agar. \"    ///    \"Mechanistically, CD74-NRG1 leads to extracellular expression of the EGF-like domain of NRG1 III-?3, thereby providing the ligand for ERBB2-ERBB3 receptor complexes. \"    ///    \"Ectopic expression of CD74-NRG1 in lung cancer cell lines expressing ERBB2 and ERBB3 activated ERBB3 and the PI3K-AKT pathway, and led to increased colony formation in soft agar.\"    ///    CD74-NRG1 fusions in lung adenocarcinoma.. '), ('2663', 'TPM3_ALK', 't(2;5)(p23;q35) / t(2;5) / t(1;2) / t(1;2)(q25;p23) / ', 'TPM3', 'ALK', '10216106', '138', 'anaplastic large cell lymphoma;lymphoma\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'A new fusion gene TPM3-ALK in anaplastic large cell lymphoma created by a (1;2)(q25;p23) translocation..     ///    \"Activation of the ALK catalytic domain probably results from homodimerization of the hybrid protein TPM3-ALK, through the TPM3 protein-protein interaction domain. \"'), ('2664', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '17043636', '138', '', '', '', '', '', '', '', 'KB', 'Seq', 'Interestingly, distinct patterns of hybrid transcripts were found in samples taken from separate regions of individual cancer-containing prostates, suggesting that TMPRSS2-ERG gene fusions may be arising independently in different regions of a single prostate..     ///     TMPRSS2-ERG gene fusions have recently been reported to be present in a high proportion of human prostate cancers.     ///    \"In the current study, we show that great diversity exists in the precise structure of TMPRSS2-ERG hybrid transcripts found in human prostates. \"'), ('2665', 'NTRK3_ETV6', 't(12;15) (p13;q25) / t(12;15)  / ', 'NTRK3', 'ETV6', '24145651', '138', '', '', 'Kinase', '', '', '', '', 'KB', 'Seq', 'Mammary analogue secretory carcinoma of salivary glands with high-grade transformation: report of 3 cases with the ETV6-NTRK3 gene fusion and analysis of TP53, ?-catenin, EGFR, and CCND1 genes..     ///    \"Recognizing HG-transformed MASC and testing for ETV6 rearrangement may be of potential value in patient treatment, because the presence of the ETV6-NTRK3 translocation may represent a therapeutic target in MASC. \"'), ('2666', 'HSPBAP1_DIRC3', 't(2;3)(q35;q21) / ', 'HSPBAP1', 'DIRC3', '12939738', '138', 'renal cell cancer\r\r', '', '', '', '', '', '', 'KB', '', 'Disruption of a novel gene, DIRC3, and expression of DIRC3-HSPBAP1 fusion transcripts in a case of familial renal cell cancer and t(2;3)(q35;q21)..     ///    This splice results in the formation of DIRC3-HSPBAP1 fusion transcripts. '), ('2667', 'ETV6_NTRK3', '', 'ETV6', 'NTRK3', '14668342', '138', 'breast carcinoma;sarcoma\r\r', '', 'Kinase', '', '', '', '', 'KB', 'Seq', 'The ETV6-NTRK3 (EN) gene fusion occurs in human pediatric spindle cell sarcomas and secretory breast carcinoma, and encodes the oligomerization domain of the ETV6 transcription factor fused to the protein-tyrosine kinase domain of NTRK3.    ///    \"The ETV6-NTRK3 (EN) gene fusion occurs in human pediatric spindle cell sarcomas and secretory breast carcinoma, and encodes the oligomerization domain of the ETV6 transcription factor fused to the protein-tyrosine kinase domain of NTRK3. \"    ///    A highly conserved NTRK3 C-terminal sequence in the ETV6-NTRK3 oncoprotein binds the phosphotyrosine binding domain of insulin receptor substrate-1: an essential interaction for transformation.. '), ('2668', 'ASPSCR1_TFE3', '', 'ASPSCR1', 'TFE3', '25048860', '138', 'kidney cancer', '', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'A total of five TFE3 gene fusions (PRCC-TFE3, ASPSCR1-TFE3, SFPQ-TFE3, NONO-TFE3, and CLTC-TFE3) and one TFEB gene fusion (MALAT1-TFEB) have been identified in RCC tumours and characterized at the mRNA transcript level.    ///    \"A total of five TFE3 gene fusions (PRCC-TFE3, ASPSCR1-TFE3, SFPQ-TFE3, NONO-TFE3, and CLTC-TFE3) and one TFEB gene fusion (MALAT1-TFEB) have been identified in RCC tumours and characterized at the mRNA transcript level. \"'), ('2669', 'TFE3_PRCC', '', 'TFE3', 'PRCC', '25048860', '138', 'kidney cancer', '', '', '', '', '', '', 'KB', '', 'A total of five TFE3 gene fusions (PRCC-TFE3, ASPSCR1-TFE3, SFPQ-TFE3, NONO-TFE3, and CLTC-TFE3) and one TFEB gene fusion (MALAT1-TFEB) have been identified in RCC tumours and characterized at the mRNA transcript level. '), ('2670', 'SYT_SSX2', '', 'SYT', 'SSX2', '22862905', '138', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The presence of an SYT-SSX1 and/or SYT-SSX2 gene fusion resulting from t(X;18) was demonstrated from paraffin blocks by reverse transcriptase polymerase chain reaction in five cases. '), ('2671', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '16781488', '138', 'myeloproliferative disorder;leukemia;hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Most notable among these is the recent discovery of the cryptic FIP1L1-PDGFRA gene fusion in karyotypically normal patients with systemic mast cell disease with eosinophilia or idiopathic HES, redefining these diseases as clonal eosinophilias. '), ('2672', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '26310325', '138', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', ' The TMPRSS2-ERG gene fusion occurs in about half of prostate cancer (PCa) cases and results in overexpression of the transcription factor ERG.     ///    \"Finally, we show that PCa patientswho are smokers have larger tumors if their tumors are TMPRSS2-ERG gene fusion positive. \"'), ('2673', 'SYT_SSX2', '', 'SYT', 'SSX2', '22393682', '138', 'synovial sarcoma;renal cell carcinoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The diagnosis was supported by reverse transcription-polymerase chain reaction which demonstrated SYT-SSX2 gene fusion. '), ('2674', 'SYT_SSX1', '', 'SYT', 'SSX1', '22862905', '138', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The presence of an SYT-SSX1 and/or SYT-SSX2 gene fusion resulting from t(X;18) was demonstrated from paraffin blocks by reverse transcriptase polymerase chain reaction in five cases. '), ('2675', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '24759320', '138', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'By contrast with MDV3100, JQ1 functions downstream of AR, and more potently abrogated BRD4 localization to AR target loci and AR-mediated gene transcription, including induction of the TMPRSS2-ERG gene fusion and its oncogenic activity. '), ('2676', 'TFEB_MALAT1', '', 'TFEB', 'MALAT1', '25048860', '138', 'kidney cancer', '', '', '', '', '', 'Transcription_Factor', '', '', 'A total of five TFE3 gene fusions (PRCC-TFE3, ASPSCR1-TFE3, SFPQ-TFE3, NONO-TFE3, and CLTC-TFE3) and one TFEB gene fusion (MALAT1-TFEB) have been identified in RCC tumours and characterized at the mRNA transcript level. '), ('2677', 'TFE3_RCC', '', 'TFE3', 'RCC', '25048860', '138', 'kidney cancer', '', '', '', '', '', '', '', '', 'A total of five TFE3 gene fusions (PRCC-TFE3, ASPSCR1-TFE3, SFPQ-TFE3, NONO-TFE3, and CLTC-TFE3) and one TFEB gene fusion (MALAT1-TFEB) have been identified in RCC tumours and characterized at the mRNA transcript level. '), ('2678', 'TFE3_CLTC', '', 'TFE3', 'CLTC', '25048860', '138', 'kidney cancer', '', '', '', '', '', '', 'KB', '', 'A total of five TFE3 gene fusions (PRCC-TFE3, ASPSCR1-TFE3, SFPQ-TFE3, NONO-TFE3, and CLTC-TFE3) and one TFEB gene fusion (MALAT1-TFEB) have been identified in RCC tumours and characterized at the mRNA transcript level. '), ('2679', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '22142399', '138', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'The TMPRSS2-ERG gene fusion results in the modulation of transcriptional patterns and cellular pathways with potential consequences for prostate cancer progression.     ///     TMPRSS2-ERG gene fusions occur in about 50% of all prostate cancer cases and represent promising markers for molecular subtyping.     ///    TMPRSS2-ERG -specific transcriptional modulation is associated with prostate cancer biomarkers and TGF-? signaling.. '), ('2680', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '18719366', '138', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Of note, curcumin downregulated transcript encoded by the potentially causal TMPRSS2-ERG gene fusion, a common oncogenic alteration noted in 50-70% of prostate cancer patients. '), ('2681', 'SYT_SSX', '', 'SYT', 'SSX', '14605853', '138', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The presence of a SYT-SSX gene fusion resulting from the t(X;18) characteristic for synovial sarcoma was demonstrated by reverse transcriptase polymerase chain reaction in both tumors. '), ('2682', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '26660523', '138', '', '', '', '', '', '', '', 'KB', 'Seq', ' The human prostate tumor suppressor NKX3.1 mediates the DNA repair response and interacts with the androgen receptor to assure faithful completion of transcription thereby protecting against TMPRSS2-ERG gene fusion. '), ('2683', 'EWS_CHOP', 't(12;16)(q13;p11) / t(12;22)(q13;q12) / ', 'EWS', 'CHOP', '21115923', '137', 'ewing sarcoma', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Myxoid liposarcoma with EWS-CHOP type 1 fusion gene..     ///    \"Analysis of MLS with EWS-CHOP variant transcripts, type 1 through type 4, including this case together with 15 cases in the literature, indicated that MLS with type 1 fusion transcript may show a more favorable clinical behavior than MLS with other types of fusion transcript.. \"    ///    \"RT-PCR analysis confirmed the presence of EWS-CHOP chimeric transcript type 1, in which exon 7 of EWS was in-frame fused to exon 2 of CHOP with a serine (AGT) to methionine (ATG) transition at the junction. \"'), ('2684', 'RET_KIF5B', '10p11.22 / ', 'RET', 'KIF5B', '22797671', '137', 'papillary adenocarcinoma', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'In             this study, we have independently investigated the KIF5B/RET fusion gene status             in 371?surgically-treated NSCLCs (270 were adenocarcinomas and 101 were squamous             cell carcinomas), 60 breast cancers, 11?metastatic lung cancers from colon cancers             and thyroid papillary adenocarcinoma cases at the Nagoya City University Hospital.     ///    We detected 3 of 270 cases of KIF5B/RET fusion genes in adenocarcinomas             (1.1%) consisting of female and never smokers with mixed subtype adenocarcinomas.     ///    \"However,             the correlation between the KIF5B/RET fusion gene status and the clinicopathological             features of surgically-treated lung cancer has not been well characterized. \"    ///    KIF5B/RET fusion gene in surgically-treated adenocarcinoma of the lung..     ///    We reported KIF5B/RET             fusion genes as a driver somatic mutation of lung adenocarcinomas.     ///    The cinicopathological             backgrounds of the KIF5B/RET fusion-positive patients were similar with those             of the EML4/ALK fusion-positive patients.     ///    KIF5B/RET fusion was not detected             in the cases with squamous cell carcinoma or other types of cancers.     ///    KIF5B/RET fusion was not detected in the cases with squamous cell carcinoma or other types of cancers.'), ('2685', 'EWS_CHOP', 't(1;16) / t(12;16)(q13;p11) / t(12;22)(q13;q12) / t(1;16)(q11;q11) / ', 'EWS', 'CHOP', '12876210', '137', 'liposarcoma;ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The variant translocation t(12;22)(q13;q12) and associated EWS-CHOP fusion transcript are rare.     ///    The following case illustrates the utility of molecular cytogenetic and reverse transcriptase-polymerase chain reaction techniques in diagnosing an ins(22;12)(q12;q13q14) and associated EWS-CHOP fusion transcript in a myxoid/round cell liposarcoma exhibiting a der(16)t(1;16)(q11;q11).. '), ('2686', 'MAML2_CRTC1', 't(11;19)  / ', 'MAML2', 'CRTC1', '18181164', '137', 'melanoma;mucoepidermoid carcinoma\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'The t(11;19) translocation and its CRTC1/MAML2 fusion transcript have been identified in several examples of both Warthin\'s tumor and mucoepidermoid carcinoma and are believed to be associated with the development of a subset of these tumors.     ///    CRTC1/MAML2 fusion transcript in Warthin\'s tumor and mucoepidermoid carcinoma: evidence for a common genetic association.. '), ('2687', 'HLF_E2A', 't(17;19)(q22;p13) / t(17;19)  / ', 'HLF', 'E2A', '12111652', '137', 'disseminated intravascular coagulation', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', '', '', '', 'E2A/HLF fusion gene in an acute lymphoblastic leukemia patient with disseminated intravascular coagulation and a normal karyotype..     ///    \"The fusion E2A-HLF was amplified by RT-PCR and sequenced, giving a type I rearrangement with a long insertion (146 nucleotides) between E2A exon 13 and HLF exon 4. \"    ///    RT-PCR was used to detect the E2A-HLF transcript. '), ('2688', 'MALT1_API2', 't(11;18)(q21;q21) / ', 'MALT1', 'API2', '15982633', '137', 'MALT lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', ' t(11;18)(q21;q21) is a characteristic as well as the most frequent chromosomal translocation in mucosa-associated lymphoid tissue (MALT) type lymphoma, and this translocation results in a fusion transcript, API2-MALT1.     ///    \"Taken together, our results strongly indicated that API2-MALT1 possesses a novel mechanism of self-activation by up-regulating its own expression in t(11;18)(q21;q21)-carrying MALT lymphomas, highlighting a positive feedback-loop pathway resulting in unremitting NF-kappaB activation.. \"    ///    Luciferase reporter assays with deletion and mutational constructs of the API2 promoter and electrophoretic mobility shift assays established that API2-MALT1 induces transcriptional activation of the API2 gene through two NF-kappaB binding elements.     ///    \"Although API2-MALT1 has been shown to enforce activation of NF-kappaB signaling, the transcriptional target genes of this fusion protein remains to be identified. \"    ///    API2-MALT1 fusion protein induces transcriptional activation of the API2 gene through NF-kappaB binding elements: evidence for a positive feed-back loop pathway resulting in unremitting NF-kappaB activation.. '), ('2689', 'NTRK3_ETV6', 't(12;15)(p13;q25) / ', 'NTRK3', 'ETV6', '21084177', '137', 'sarcoma\r\r', '', 'Kinase', '', '', '', '', 'KB', 'Seq', 'The fusion transcript ETV6-NTRK3 resulting from the specific chromosomal translocation t(12;15)(p13;q25) is now a useful diagnostic tool for infantile fibrosarcoma. '), ('2690', 'MITF_ACTG1', '', 'MITF', 'ACTG1', '25401301', '137', 'renal cell carcinoma', '', '', '', '', '', '', '', '', 'Using RNA sequencing, we identified previously unreported gene fusions, including ACTG1-MITF fusion.     ///    Ectopic expression of the ACTG1-MITF fusion led to cellular transformation and induced the expression of downstream target genes. '), ('2691', 'PDGFRB_DTD1', 't(5;20)(q33;p11) / t(5;14)(q33;q32) / t(5;17;14)(q33;q11;q32) / ', 'PDGFRB', 'DTD1', '24772479', '137', '', 'PCR', 'Kinase', '', '', 'Receptor', '', '', '', 'Identification and functional characterization of imatinib-sensitive DTD1-PDGFRB and CCDC88C-PDGFRB fusion genes in eosinophilia-associated myeloid/lymphoid neoplasms.. '), ('2692', 'MLL_AF9', 't(9;11)(p22;q23) / ', 'MLL', 'AF9', '9616150', '137', 'bone resorption\r\r', '', '', '', '', '', '', '', '', '(1) UG3 cells harbor the t(9;11)(p22;q23) translocation that results in fusion of the MLL and the AF9 genes and produce the corresponding AF9-MLL and MLL-AF9 fusion transcripts. '), ('2693', 'EWS_ETV1', '', 'EWS', 'ETV1', '10749119', '137', 'ewing sarcoma', '', '', '', '', '', '', '', '', 'We show that relative to the control, NIH-3T3 cell lines stably transfected with the EWS-FLI1, EWS-ERG, or EWS-ETV1 gene fusion express reduced levels of TGF-beta RII mRNA and protein, and that these cell lines have reduced TGF-beta sensitivity.     ///    \"EWS-FLI1, EWS-ERG, and EWS-ETV1 oncoproteins of Ewing tumor family all suppress transcription of transforming growth factor beta type II receptor gene.. \"    ///    \"Here, we also examined effects of EWS-ETV1 and EWS-ERG on expression of the TGF-beta RII gene. \"    ///    \"These results indicate that transcriptional repression of TGF-beta RII is an important target of the EWS-FLI1, EWS-ERG, or EWS-ETV1 oncogene, and that EWS-ets fusion proteins may function as dominant negative forms of ets transcription factors.. \"'), ('2694', 'PTPN3_ALK', '', 'PTPN3', 'ALK', '22334442', '137', 'non small cell lung cancer;non small cell lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Discovery of ALK-PTPN3 gene fusion from human non-small cell lung carcinoma cell line using next generation RNA sequencing.. '), ('2695', 'MLLT3_MLL', 't(9;11) / ', 'MLLT3', 'MLL', '23676645', '137', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', '', '', 'Seq', 'Chromosomal analysis and RT-PCR assay revealed tumor cells with the MLLT3-MLL fusion gene.     ///    \"MLLT3-MLL is generated by translocation t(9;11), which primarily induces acute myeloid leukemia in humans, whereas MLLT3-MLL induces ALL or biphenotypic leukemia in mice. \"    ///    We report a patient with mixed phenotype acute leukemia with MLLT3-MLL. '), ('2696', 'FLI_EWS', 't(11;22)(q24;q12) / ', 'FLI', 'EWS', '12390000', '137', 'neuroectodermal tumor', '', '', '', '', '', '', '', '', 'A reciprocal translocation of the chromosomes 11 and 22 [t(11;22)(q24;q12)] with expression of a EWS/FLI-1 fusion transcript was demonstrated by molecular pathology. '), ('2697', 'MLL_CBP', 't(11;16)(q23;p13) / t(8;16)(p11;p13) / t(8;16)  / t(11;16) / ', 'MLL', 'CBP', '9290955', '137', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Novel MLL-CBP fusion transcript in therapy-related chronic myelomonocytic leukemia with a t(11;16)(q23;p13) chromosome translocation..     ///    Subsequent reverse transcriptase-polymerase chain reaction and direct sequencing analyses revealed the MLL-CBP fusion transcript in CMML cells. '), ('2698', 'TEC_TAF2N', 't(9;22)(q22;q12) / t(9;17)(q22;q11) / ', 'TEC', 'TAF2N', '10537274', '137', 'chondrosarcoma;sarcoma\r\r', '', 'Kinase', '', '', '', '', '', '', 'Two tumors, one with a novel t(9;17)(q22;q11) variant translocation and one with an apparently normal karyotype, expressed TAF2N-TEC fusion transcripts. '), ('2699', 'MAML1_CRTC1', 't(11;19)  / ', 'MAML1', 'CRTC1', '21074686', '137', 'mucoepidermoid carcinoma\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'The t(11;19) translocation and its CRTC1/MAML1 fusion transcript have been identified in MEC at different sites and are believed to be associated with the development of a subset of these tumors. '), ('2700', 'PDGFRB_CCDC88C', 't(5;20)(q33;p11) / t(5;14)(q33;q32) / t(5;17;14)(q33;q11;q32) / ', 'PDGFRB', 'CCDC88C', '24772479', '137', '', 'PCR', 'Kinase', '', '', 'Receptor', '', '', '', 'Identification and functional characterization of imatinib-sensitive DTD1-PDGFRB and CCDC88C-PDGFRB fusion genes in eosinophilia-associated myeloid/lymphoid neoplasms.. '), ('2701', 'ETV6_AML1', 't(12;21)  / 12p13.2 / 9p21.3 / 9p13.2 / ', 'ETV6', 'AML1', '17374122', '137', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The TEL (ETV6)-AML1 (RUNX1) chimeric gene fusion is the most common genetic abnormality in childhood acute lymphoblastic leukemias.     ///    Genetic abnormalities involved in t(12;21) TEL-AML1 acute lymphoblastic leukemia: analysis by means of array-based comparative genomic hybridization..     ///    \"Enforced expression of TEL and to a lesser extent BTG1, both single genes known to be located in their respective minimum common region of loss, inhibited proliferation of the TEL-AML1 cell line Reh. \"    ///    \"In a search for additional genetic events that could be linked to the development of leukemia, we applied a genome-wide array-comparative genomic hybridization technique to 24 TEL-AML1 leukemia samples and two cell lines. \"'), ('2702', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '24186205', '137', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Therapeutic delivery of miR-200c may provide personalized treatment for patients with the molecular subtype of PCa that harbors TMPRSS2-ERG gene fusions..     ///    TMPRSS2-ERG gene fusions induce prostate tumorigenesis by modulating microRNA miR-200c.. '), ('2703', 'EWS_ERG', '', 'EWS', 'ERG', '10749119', '137', 'ewing sarcoma', '', '', '', '', '', '', '', '', 'We show that relative to the control, NIH-3T3 cell lines stably transfected with the EWS-FLI1, EWS-ERG, or EWS-ETV1 gene fusion express reduced levels of TGF-beta RII mRNA and protein, and that these cell lines have reduced TGF-beta sensitivity.     ///    \"EWS-FLI1, EWS-ERG, and EWS-ETV1 oncoproteins of Ewing tumor family all suppress transcription of transforming growth factor beta type II receptor gene.. \"    ///    \"Here, we also examined effects of EWS-ETV1 and EWS-ERG on expression of the TGF-beta RII gene. \"    ///    \"These results indicate that transcriptional repression of TGF-beta RII is an important target of the EWS-FLI1, EWS-ERG, or EWS-ETV1 oncogene, and that EWS-ets fusion proteins may function as dominant negative forms of ets transcription factors.. \"'), ('2704', 'TEL_AML1', 't(9;22)  / t(4;11)  / t(1;19) / t(12;21)(p13;q22) / ', 'TEL', 'AML1', '19713226', '137', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'In the context of the German Multicenter Therapy Study Group for Adult Acute Lymphoblastic Leukemia (GMALL) we used reverse transcriptase polymerase chain reaction to investigate 441 cases of BCR-ABL- and MLL-AF4-negative B-precursor acute lymphoblastic leukemia for the TCF3-PBX1 (E2A-PBX1) and ETV6-RUNX1 (TEL-AML1) fusion transcripts generated by the t(1;19)(q23;p13.3) and t(12;21)(p13;q22) translocations.     ///    Clinical features and prognostic implications of TCF3-PBX1 and ETV6-RUNX1 in adult acute lymphoblastic leukemia..     ///    ETV6-RUNX1 only occurred in patients under 35 years old and was associated with a significantly lower white blood count.     ///    We identified 23 adult patients with TCF3-PBX1 and ten with ETV6-RUNX1. '), ('2705', 'PAX7_FKHR', '', 'PAX7', 'FKHR', '11496344', '137', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Proliferative and apoptotic differences between alveolar rhabdomyosarcoma subtypes: a comparative study of tumors containing PAX3-FKHR or PAX7-FKHR gene fusions..     ///    \"Cell cycle parameters varied significantly: the number of nuclei that stained with either an immunohistochemical marker of proliferation (MIB1), or a TUNEL-based assay for apoptosis was significantly greater in tumors that expressed PAX3-FKHR compared to tumors that expressed PAX7-FKHR transcript. \"    ///    \"We examined histology, immunohistochemical markers of differentiation, and cell cycle characteristics of a panel of ARMS containing either PAX3-FKHR or PAX7-FKHR transcript to determine if these features differ between the ARMS subsets. \"'), ('2706', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '11496344', '137', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Proliferative and apoptotic differences between alveolar rhabdomyosarcoma subtypes: a comparative study of tumors containing PAX3-FKHR or PAX7-FKHR gene fusions..     ///    \"Cell cycle parameters varied significantly: the number of nuclei that stained with either an immunohistochemical marker of proliferation (MIB1), or a TUNEL-based assay for apoptosis was significantly greater in tumors that expressed PAX3-FKHR compared to tumors that expressed PAX7-FKHR transcript. \"    ///    \"We examined histology, immunohistochemical markers of differentiation, and cell cycle characteristics of a panel of ARMS containing either PAX3-FKHR or PAX7-FKHR transcript to determine if these features differ between the ARMS subsets. \"    ///    \"We conclude that compared to PAX7-FKHR-containing tumors, ARMS that contain PAX3-FKHR transcript have (1) increased cell proliferation, consistent with greater loss of cell cycle regulation, and (2) apoptosis that is increased but insufficient to prevent tumor formation. \"    ///    More marked cell cycle dysregulation may contribute to poorer prognosis for patients with ARMS that have PAX3-FKHR fusion. '), ('2707', 'NEBL_MLL', 't(10;11)(p12;q23) / ', 'NEBL', 'MLL', '23340173', '137', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Functional analysis of the two reciprocal fusion genes MLL-NEBL and NEBL-MLL reveal their oncogenic potential..     ///    We previously described the MLL-NEBL and NEBL-MLL genomic fusions in an infant AML patient with a chromosomal translocation t(10;11)(p12;q23).     ///    \"First, RT-PCR analyses revealed the presence of the MLL-NEBL and NEBL-MLL mRNAs in the diagnostic sample of the patient. \"    ///    \"Next, expression cassettes for MLL-NEBL and NEBL-MLL were cloned into a sleeping beauty vector backbone. \"    ///    NEBL-MLL but also co-transfected cells displayed significantly higher growth rates according to the data obtained by cell proliferation assay.     ///    \"After stable transfection, the biological effects of MLL-NEBL, NEBL-MLL or the combination of both fusion proteins were investigated in a conditional cell culture model. \"'), ('2708', 'NPM_ALK', 't(2;5) / t(14;18)  / t(9;22) / t(2;5)  / ', 'NPM', 'ALK', '9886332', '136', 'non Hodgkin Lymphoma', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'We conclude that NPM/ALK fusion genes are present in peripheral blood cells of healthy donors.     ///    \"To further delineate the relevance of this finding for HD, we studied the occurrence of NPM/ALK fusion genes in peripheral blood cells of healthy donors by RT-PCR. \"    ///    Detection of the t(2;5)-associated NPM/ALK fusion cDNA in peripheral blood cells of healthy individuals..     ///    \"Due to the low rate of NPM/ALK-positive cells in the peripheral blood of positive individuals, an assignment to a defined cellular subpopulation was not possible. \"    ///    Our group recently demonstrated NPM/ALK fusion cDNAs by single-cell RT-PCR in < 3% of CD30+ tumour cells in 2/9 cases of HD.     ///    NPM/ALK fusion cDNAs were found by RT-PCR in 14/29 healthy individuals and confirmed by hybridization with a breakpoint-specific oligonucleotide. '), ('2709', 'TEL_AML1', 't(9;22)(q34;q11) / t(4;11)(q21;q23) / t(12;21)(q12;q22) / ', 'TEL', 'AML1', '10953429', '136', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'They were examined for presence of m-RNA of fusion genes BCR/ABL, MLL/AF4 and TEL/AML1 by reverse transcriptase-polymerase chain reaction (RT-PCR) method.     ///    BCR/ABL positivity was found in 2.5% (7 out of 240) and TEL/AML1 in 21.7% (41 out of 189) cases.     ///    \"[Detection of BCR/ABL, MLL/AF4 and TEL/AML1 hybrid genes and monitoring of minimal residual disease in pediatric patients with acute lymphoblastic leukemia].. \"    ///    Hybrid gene TEL/AML1 defines subgroup of children with better prognosis and due to its high frequency provides us with a very useful tool for MRD detection.. '), ('2710', 'EWS_CHOP', 't(12;16)  / t(12;22)  / t(12;22) / ', 'EWS', 'CHOP', '18752119', '136', 'liposarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', 'Genomic sequences of the FUS-CHOP or EWS-CHOP fusion gene were amplified in five and one MLS, respectively. '), ('2711', 'FUS_CHOP', 't(12;16)  / t(12;22)  / t(12;22) / ', 'FUS', 'CHOP', '18752119', '136', 'liposarcoma;sarcoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Genomic sequences of the FUS-CHOP or EWS-CHOP fusion gene were amplified in five and one MLS, respectively. '), ('2712', 'PHF1_EPC1', 't(7;17)(p15;q21) / t(7;17)  / t(6;7) / ', 'PHF1', 'EPC1', '16397222', '136', 'endometrial stromal sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Consistent rearrangement of chromosomal band 6p21 with generation of fusion genes JAZF1/PHF1 and EPC1/PHF1 in endometrial stromal sarcoma.. '), ('2713', 'PDGFB_COL1A1', 't(17;22)(q22;q13) / ', 'PDGFB', 'COL1A1', '10072161', '136', 'dermatofibrosarcoma protuberans;sarcoma\r\r', '', '', 'Oncogene', '', '', '', 'KB', '', 'These rearrangements result in the COL1A1/PDGFB fusion gene. '), ('2714', 'MYC_RNF213', 't(2;5)(p23;q35) / t(8;17)(q24;q25) / ', 'MYC', 'RNF213', '21080342', '136', 'anaplastic large cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'C-MYC rearrangement may induce an aggressive phenotype in anaplastic lymphoma kinase positive anaplastic large cell lymphoma: Identification of a novel fusion gene ALO17/C-MYC.. '), ('2715', 'KIAA1549_BRAF', '', 'KIAA1549', 'BRAF', '22157620', '135', 'pilocytic astrocytoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'KIAA1549:BRAF gene fusions confirmed by sequencing included the previously reported ones involving exons 1-16/9-18 (49%), 1-15/9-18 (35%), and 1-16/11-18 (8%) and 2 fusions with novel breakpoints: 1-15/11-18 (6%) and 1-17/10-18 (1%).     ///    BRAF alterations in primary glial and glioneuronal neoplasms of the central nervous system with identification of 2 novel KIAA1549:BRAF fusion variants..     ///    \"Polymerase chain reaction testing identified KIAA1549:BRAF fusions in 51 (48%) tumors overall, including 42 (60%) pilocytic astrocytomas, 4 (17%) unclassifiable low-grade gliomas, 4 (36%) low-grade glioneuronal/neuroepithelial tumors, 0 (of 5) pleomorphic xanthoastrocytomas, 0 (of 4) diffuse astrocytomas (World Health Organization grade II), and 1 (of 3, 33%) pilomyxoid astrocytoma. \"    ///    KIAA1549:BRAF fusions were significantly more frequent in infratentorial (57%) and optic pathway (59%) tumors versus supratentorial (19%) tumors (p = 0.001).     ///    \"In summary, KIAA1549:BRAF fusions predominate in pilocytic astrocytomas but are also present in some low-grade unclassifiable gliomas and glioneuronal tumors. \"'), ('2716', 'NPM_ALK', 't(2;5)(p23;q35) / ', 'NPM', 'ALK', '7772531', '135', 'anaplastic large cell lymphoma', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'We have developed a PCT methodology which has enabled the detection of the NPM-ALK rearrangements amongst seven t(2;5)(p23;q35) ALCL cases based on a long-range PCR of genomic DNA.     ///    Detection of NPM-ALK DNA rearrangement in CD30 positive anaplastic large cell lymphoma.. '), ('2717', 'PSIP1_NUP98', 't(9;11)(p22;p15) / ', 'PSIP1', 'NUP98', '22103895', '135', 'acute myeloid leukemia;chronic myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', 'Expression of the novel NUP98/PSIP1 fusion transcripts in myelodysplastic syndrome with t(9;11)(p22;p15)..     ///    Reverse transcription-polymerase chain reaction (RT-PCR) and nucleotide sequencing detected four types of NUP98/PSIP1-p52 and two types of NUP98/PSIP1-p75 fusion transcripts.     ///    \"Furthermore, RQ-PCR for NUP98/PSIP1 could be useful to monitor minimal residual disease.. \"'), ('2718', 'E47_E12', 't(17;19)(q22;p13) / t(17;19) / ', 'E47', 'E12', '8164688', '135', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'The E2A-HLF fusion gene, formed by a t(17;19)(q22;p13) in childhood pro-B-cell acute lymphoid leukemia, encodes a hybrid protein that contains the trans-activation domain of E2A (E12/E47) linked to the bZIP DNA-binding and dimerization domain of hepatic leukemia factor (HLF). '), ('2719', 'RARA_OBFC2A', 't(2;17)(q32;q21) / ', 'RARA', 'OBFC2A', '23287866', '135', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'OBFC2A/RARA: a novel fusion gene in variant acute promyelocytic leukemia..     ///    Sequence analysis of the OBFC2A/RARA transcript showed that exon 5 of OBFC2A was fused with exon 3 of RARA through the same breakpoint as in previously described fusions of RARA. '), ('2720', 'ETO_AML1', 't(8;21)(q22;q22) / t(8;21)  / t(8;21) / ', 'ETO', 'AML1', '17610268', '135', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The generation of t(8;21) was determined in the corresponding umbilical cord blood samples by detection of the AML1-ETO fusion transcripts derived from t(8;21) using nested RT-PCR.     ///    and (ii) the levels for AML1-ETO fusion transcripts resulting from t(8;21) positively correlated with propoxur concentrations in meconium.     ///    Levels for the AML1-ETO fusion transcripts were quantitated by real-time RT-PCR in the t(8;21) positive cord blood samples.     ///    AML1-ETO fusion transcript forms were characterized by RT-PCR amplification and DNA sequencing. '), ('2721', 'NUP98_HOXA9', 't(7;11) / t(7;11)  / ', 'NUP98', 'HOXA9', '15721637', '135', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'The NUP98-HOXA9 fusion transcript was detected by RT-PCR, suggesting its role in the malignant transformation as it has been postulated for other t(7;11)-associated leukemias. '), ('2722', 'MYH11_CBF', 'inv(16)(p13q22) / inv(16) (p13q22) / ', 'MYH11', 'CBF', '9074414', '135', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'We studied 321 patients with AML at diagnosis for the presence of inv(16)(p13q22) and CBF beta/MYH11 fusion transcripts by cytogenetic and RT-PCR techniques respectively.     ///    The observed frequencies of CBF beta/MYH11 fusion transcripts in our study have been adjusted for the reported incidence of each FAB subtype and we calculate that 10.1% of all new cases of AMLs have molecular evidence of inv(16)(p13q22).     ///    Frequency of CBF beta/MYH11 fusion transcripts in patients entered into the U.K.     ///    We conclude that molecular screening for the presence of CBF beta/MYH11 fusion transcripts should be mandatory in all case of AML at diagnosis.. '), ('2723', 'PAX3_FKHR', 't(11;22)(q24;q12) / t(21;22)(q22;q12) / t(11;22)(p13;q12) / t(2;13)(q35;q14) / t(1;13)(p36;q14) / p11;q11 / t(11;22)  / t(21;22)  / t(2;13)  / t(1;13)  / ', 'PAX3', 'FKHR', '9293447', '134', 'desmoplastic small round cell tumor', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'These tumours were shown to carry either a t(2;13) translocation exhibiting chimeric PAX3-FKHR fusion transcripts or a t(1;13) translocation with PAX7-FKHR chimeric gene products. '), ('2724', 'USP6_CDH11', 't(16;17)(q22;p13) / t(1;17) / t(3;17) / t(9;17) / t(17;17)  / ', 'USP6', 'CDH11', '15735689', '134', 'abdominal neoplasm;aneurysmal bone cyst', '', '', '', '', '', '', '', '', 'The oncogenic mechanism in these fusion genes is akin to CDH11-USP6, with the USP6 coding sequences juxtaposed to the promoter regions in each of the four novel translocation partners.     ///    One of the ABC 17p13 rearrangements--t(16;17)(q22;p13)--was recently shown to create a CDH11-USP6 fusion in which the USP6/TRE17 oncogene is overexpressed through juxtaposition with the CDH11 promoter. '), ('2725', 'EWSR1_ATF1', 't(12;22)(q13;q12) / / ', 'EWSR1', 'ATF1', '15884099', '134', 'clear cell sarcoma;fibrous histiocytoma;sarcoma;histiocytoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'FISH,RT-PCR, and sequence analyses revealed an EWSR1-ATF1 fusion gene that has previously been reported in clear cell sarcoma (CCS), a soft tissue sarcoma that is morphologically and clinically distinct from AFH.    ///    \"FISH,RT-PCR, and sequence analyses revealed an EWSR1-ATF1 fusion gene that has previously been reported in clear cell sarcoma (CCS), a soft tissue sarcoma that is morphologically and clinically distinct from AFH. \"    ///    This study thus has demonstrated that the EWSR1-ATF1 chimera represents a fusion gene that can be associated with different tumor types.     ///    Simultaneous expression of the EWSR1-ATF1 and MITF-M transcripts in CCS has led to the proposal that the MITF-M promoter is transactivated by EWSR1-ATF1.     ///    \"Activation of the EWSR1-ATF1 oncogene is probably an early step in the transformation process, but the overall gene expression patterns are likely to vary considerably between AFH and CCS, in keeping with their clinicopathologic differences.. \"    ///    \"The AFH, however, did not express the MITF-M transcript, supporting the theory that MITF-M expression in CCS is a reflection of its cellular origin, rather than a consequence of the presence of an EWSR1-ATF1 fusion protein. \"'), ('2726', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '18065961', '134', 'prostatic intraepithelial neoplasia', '', '', '', '', '', '', 'KB', 'Seq', ' TMPRSS2-ERG gene fusion leading to the androgenic induction of the ERG proto-oncogene expression is a highly prevalent oncogenic alteration in prostate tumor cells.     ///    \"To assess the role of TMPRSS2-ERG alteration in prostate cancer onset and/or progression, we have evaluated the status of fusion transcripts in benign glands, prostatic intraepithelial neoplasia (PIN) and multiple cancer foci of each prostate. \"    ///    Frequent presence of the TMPRSS2-ERG in index tumors suggests critical roles of ERG alterations in the onset and progression of a large subset of prostate cancer.     ///    TMPRSS2-ERG expression was correlated with clinicopathological features.     ///    \"However, heterogeneity of the TMPRSS2-ERG detection in the context of multiple cancer foci and its frequency in PIN also support the role of other genomic alterations in the origins of prostate cancer.. \"'), ('2727', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '19136943', '134', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', '10) gene fusion in a chronic myelogenous leukaemia cell line and the TMPRSS2-ERG gene fusion in a prostate cancer cell line and tissues. '), ('2728', 'PAX8_PPARG', '', 'PAX8', 'PPARG', '25069464', '134', 'thyroid nodule;thyroid carcinoma\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Most thyroid carcinomas contain one of several known driver mutations, such as the Val600Glu substitution in B-Raf, Ras mutations, RET gene fusions, or PAX8-PPARG gene fusions.    ///    \"Most thyroid carcinomas contain one of several known driver mutations, such as the Val600Glu substitution in B-Raf, Ras mutations, RET gene fusions, or PAX8-PPARG gene fusions. \"    ///    \"The PAX8-PPARG gene fusion results in the production of a Pax-8-PPAR-? fusion protein (PPFP), which is found in approximately one-third of follicular thyroid carcinomas, as well as some follicular-variant papillary thyroid carcinomas. \"'), ('2729', 'USP6_CDH11', 't(16;17)(q22;p13) / t(17;17)  / ', 'USP6', 'CDH11', '18068538', '134', 'bone cyst\r\r', '', '', '', '', '', '', '', '', 'This translocation generates a CDH11-USP6 fusion gene in which the strong promoter of osteoblast cadherin 11 gene at 16q22 is fused to the entire ubiquitin-specific protease 6 coding sequence at 17p13. '), ('2730', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '26571387', '134', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'In VCaP cells, a human prostate cancer cell line overexpressing both AR and the TMPRSS2-ERG gene fusion, an androgen response element (ARE)-targeted Py-Im polyamide significantly downregulates AR driven gene expression. '), ('2731', 'JJAZ1_JAZF1', '', 'JJAZ1', 'JAZF1', '26429873', '134', 'endometrial stromal sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' Although recurrent gene fusions such as JAZF1-JJAZ1 are considered driver events for endometrial stromal sarcoma (ESS) development, other genomic alterations remain largely unknown.     ///    \"All three LG-ESSs exhibited either one of JAZF1-SUZ12, JAZF1-PHF1 and MEAF6-PHF1 fusions, whereas the two UUSs did not. \"'), ('2732', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '25780911', '134', 'prostate cancer;adenocarcinoma\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Genetic interaction between Tmprss2-ERG gene fusion and Nkx3.1-loss does not enhance prostate tumorigenesis in mouse models..     ///     Gene fusions involving ETS family transcription factors (mainly TMPRSS2-ERG and TMPRSS2-ETV1 fusions) have been found in ~50% of human prostate cancer cases.     ///    \"In Tmprss2-ERG;Nkx3.1+/- (or -/-) male mice, although we observed a slight but significant upregulation of Tmprss2-ERG fusion expression upon Nkx3.1 loss, we did not detect any significant cooperation between these two genetic events to enhance prostate tumorigenesis in vivo. \"    ///    \"Although expression of TMPRSS2-ERG or TMPRSS2-ETV1 fusion alone is insufficient to initiate prostate tumorigenesis, they appear to sensitize prostate epithelial cells for cooperation with additional oncogenic mutations to drive frank prostate adenocarcinoma. \"    ///    \"We recently generated knockin mouse models for TMPRSS2-ERG and TMPRSS2-ETV1 fusions, utilizing the endogenous Tmprss2 promoter. \"    ///    \"Previous studies have shown that deletions at 8p21 (harboring NKX3.1) and 21q22 (resulting in TMPRSS2-ERG fusion) were both present in a subtype of prostate cancer cases, and that ERG can lead to epigenetic silencing of NKX3.1 in prostate cancer cells, whereas NKX3.1 can in turn negatively regulate TMPRSS2-ERG fusion expression via suppression of the TMPRSS2 promoter activity. \"'), ('2733', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '24925673', '134', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Experimental data suggest that heightened AR activity facilitates formation of TMPRSS2:ERG, a gene fusion present in approximately 50% of tumors of patients with prostate cancer.     ///    We undertook a nested case-control study to investigate the hypothesis that shorter CAG repeat length would be associated with prostate cancer risk defined by TMPRSS2:ERG status.     ///    Our results provide supportive evidence that androgen signaling underlies the development of prostate tumors that harbor TMPRSS2:ERG.     ///    Androgen receptor CAG repeat polymorphism and risk of TMPRSS2:ERG-positive prostate cancer..     ///    \"Moreover, these results suggest that TMPRSS2:ERG may represent a unique molecular subtype of prostate cancer with an etiology distinct from TMPRSS2:ERG-negative disease.. \"    ///    These data suggest that shorter CAG repeats are specifically associated with development of TMPRSS2:ERG-positive prostate cancer. '), ('2734', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '23673926', '134', 'leukemia\r\r', '', '', '', '', '', '', '', '', ' The AML1-ETO fusion transcription factor generated by the t(8;21) translocation is considered to deregulate the expression of genes that are crucial for normal differentiation and proliferation of hematopoietic progenitors, resulting in acute myelogenous leukemia by recruiting co-repressor complexes to DNA.     ///    \"Chromatin immunoprecipitation assays demonstrated that Bcl-2, CEBPA and p14(ARF) were direct transcriptional targets of AML1-ETO. \"    ///    \"These results suggested that the aberrant transcription factor AML1-ETO epigenetically silenced the function of the Bcl-2, CEBPA and p14(ARF) genes by inducing repressed chromatin configurations at their promoters through histone modifications.. \"    ///    \"Epigenetic silencing of Bcl-2, CEBPA and p14(ARF) by the AML1-ETO oncoprotein contributing to growth arrest and differentiation block in the U937 cell line.. \"    ///    \"To investigate the role of AML1-ETO in leukemogenesis, we transfected the cloned AML1-ETO cDNA and expressed the AML1-ETO protein in U937 myelomonocytic leukemia cells. \"    ///    \"The universal binding of AML1-ETO to genomic DNA resulted in recruitment of methyl-CpG binding protein 2 (MeCP2), reduction of histone H3 or H4 acetylation and increased trimethylation of histone H3 lysine 9 as well as lysine 27 indicating that AML1-ETO induced heterochromatic silencing of Bcl-2, CEBPA and p14(ARF). \"'), ('2735', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '21676887', '134', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Importantly, 38% of clinically localized prostate cancers and 27% of metastatic prostate cancers harboring the TMPRSS2-ERG gene fusions exhibited overexpression of wild-type ERG.     ///    \"By employing an integrative approach, we show that the TMPRSS2-ERG gene fusion product binds to the ERG locus and drives the overexpression of wild-type ERG in prostate cancers. \"    ///    \"Knockdown of TMPRSS2-ERG in VCaP cells resulted in the downregulation of wild-type ERG transcription, whereas stable overexpression of TMPRSS2-ERG in the gene fusion-negative PC3 cells was associated with the upregulation of wild-type ERG transcript. \"    ///    \"Further, androgen signaling-mediated upregulation of TMPRSS2-ERG resulted in the concomitant upregulation of wild-type ERG transcription in VCaP cells. \"'), ('2736', 'KHDRBS3_CTAGE5', '', 'KHDRBS3', 'CTAGE5', '22349460', '134', 'prostate cancer\r\r', '', '', '', '', '', '', '', '', 'Notably, two novel gene fusions, CTAGE5-KHDRBS3 (20/54=37%) and USP9Y-TTTY15 (19/54=35.2%), occurred frequently in our patient cohort. '), ('2737', 'EBP_C/EBP', 't(12;16)(q13;p11) / t(12;22)(q13;q12) / ', 'EBP', 'C/EBP', '21115923', '134', 'ewing sarcoma', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', ' In myxoid liposarcoma (MLS), the t(12;16)(q13;p11) chromosomal translocation and its resultant fusion transcript, the human translocation liposarcoma (TLS)-CCAAT/enhancer binding protein (C/EBP) homologous protein (CHOP), are found in the majority of cases. '), ('2738', 'FNDC3B_ANKRD28', '', 'FNDC3B', 'ANKRD28', '24389164', '134', 'clear-cell adenocarcinoma;uterine neoplasm', '', '', '', '', '', '', '', '', 'Transcriptome analysis revealed novel gene fusion candidates, including ANKRD28-FNDC3B. '), ('2739', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23357671', '134', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'However, the association between TMPRSS2: ERG gene fusions and the aggressiveness of prostate cancer remains elusive.     ///    TMPRSS2: ERG gene fusions are the most common types of gene fusions in prostate cancer.     ///    We hypothesize that some N-terminal truncated ERG proteins encoded by TMPRSS2: ERG fusion genes account for the conflict. '), ('2740', 'EPC1_ASXL2', '', 'EPC1', 'ASXL2', '23736028', '134', 'prostate cancer;squamous cell carcinoma;breast cancer;colorectal cancer;melanoma;pancreatic cancer\r\r', '', '', '', '', '', '', '', '', 'EPC1-ASXL2 gene fusion occurs in adult T-cell leukaemia/lymphoma. '), ('2741', 'TEL_AML1', '', 'TEL', 'AML1', '20032297', '134', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', '', '', '', '', '', '', '', '', 'Other mutations are the gene fusion at TEL/AML1, and a new mutation found, which labels the Janus Kinase gene or JAK2 as on oncogenic precursor, which when associated with the B-cell precursor gene or BCP is highly leukomogenic. '), ('2742', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '21900195', '134', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' ETV6-RUNX1 gene fusion is usually an early, prenatal event in childhood acute lymphoblastic leukemia (ALL).     ///    \"Here, we show that ETV6-RUNX1 directly binds the EPOR promoter and that expression of ETV6-RUNX1 alone in normal pre-B cells is sufficient to activate EPOR transcription. \"    ///    \"EPOR mRNA is selectively and ectopically expressed in ETV6-RUNX1(+) ALL, but the presence of a functional EPOR on the cell surface and its role in leukemogenesis driven by ETV6-RUNX1 remains to be identified. \"    ///    These data support the contention that ETV6-RUNX1 directly activates ectopic expression of a functional EPOR and provides cell survival signals that may contribute critically to persistence of covert premalignant clones in children..     ///    ETV6-RUNX1 promotes survival of early B lineage progenitor cells via a dysregulated erythropoietin receptor.. '), ('2743', 'PAX3_FOXO1', 't(2;13)(q35;q14) / ', 'PAX3', 'FOXO1', '23206814', '134', 'rhabdomyosarcoma;sarcoma\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'In contrast to ERMS, the majority of ARMS tumors carry one of several characteristic chromosomal translocations, such as t(2;13)(q35;q14), which results in the expression of a PAX3-FOXO1 fusion transcription factor.     ///    \"In this review we discuss the genes that cooperate with PAX3-FOXO1, as well as the target genes of the fusion transcription factor that contribute to various aspects of ARMS tumorigenesis. \"'), ('2744', 'PAX3_FKHR', 't(2;13)  / ', 'PAX3', 'FKHR', '19158934', '134', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' The alveolar rhabdomyosarcoma-associated t(2;13) chromosomal translocation produces an oncogenic fusion transcription factor PAX3-FKHR that combines the N-terminal DNA binding domains (paired domain and homeodomain) of PAX3 with the C-terminal activation domain of FKHR.     ///    \"In the context of PAX3-FKHR, the two DNA binding domains can work either cooperatively or autonomously in regulating gene transcription. \"    ///    Comparative analysis of paired- and homeodomain-specific roles in PAX3-FKHR oncogenesis..     ///    \"In this study, we express PAX3-FKHR mutants that contain only a single functional DNA binding domain into C2C12 myoblasts, and measured the in vitro and in vivo behaviors of these cells. \"    ///    Our results suggest an important role for the gain of the paired domain- and the homeodomain-transcription activities in the PAX3-FKHR malignant transformation process..     ///    \"However, despite the differential responses in vitro, both the paired domain- and the homeodomain-specific PAX3-FKHR mutants promote tumor development from myoblasts in vivo. \"    ///    We show that only the homeodomain-specific PAX3-FKHR mutant recapitulates the in vitro transformation properties of the wild type fusion protein. '), ('2745', 'NTRK3_ETV6', '', 'NTRK3', 'ETV6', '19006426', '134', 'myofibromatosis', '', 'Kinase', '', '', '', '', 'KB', 'Seq', 'Molecular analysis for the ETV6-NTRK3 gene fusion is an important diagnostic tool in this group of lesions..     ///    \"With reverse transcriptase polymerase chain reaction, the ETV6-NTRK3 transcript was absent in 3 COIM and was detected in 3 CIFS. \"'), ('2746', 'TFE3_PSF', '', 'TFE3', 'PSF', '25621681', '134', 'perivascular epithelioid cell tumors', '', '', '', '', '', '', '', '', 'Molecular pathological assays confirmed a PSF-TFE3 gene fusion in one of our cases. '), ('2747', 'BCR_ABL1', 't(9;22)  / ', 'BCR', 'ABL1', '24666486', '134', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Rare and atypical BCR- ABL fusion gene subtypes could be missed by conventional RQ-PCR.. '), ('2748', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '21575865', '134', 'acute myeloid leukemia;prostate cancer;myeloid leukemia;ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'We investigate the mechanisms by which ETS fusions mediate their effects, and find that the product of the predominant ETS gene fusion, TMPRSS2:ERG, interacts in a DNA-independent manner with the enzyme poly (ADP-ribose) polymerase 1 (PARP1) and the catalytic subunit of DNA protein kinase (DNA-PKcs). '), ('2749', 'FLI_EWS', '', 'FLI', 'EWS', '12509448', '134', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The lineage of the cell developing the EWS/FLI-1 gene fusion has not been fully characterized but is generally considered to be of either mesenchymal or neural crest origin.     ///    \" The chimeric fusion gene EWS/FLI-1 is detected in most cases of Ewing\'s sarcoma (ES), the second most common malignant bone tumor of childhood. \"    ///    The block in C2C12 myogenic differentiation required the nuclear localization and DNA-binding functions of EWS/FLI-1 and was mediated by transcriptional and posttranscriptional suppression of the myogenic transcription factors MyoD and myogenin.     ///    This C2C12-EWS/FLI-1 cell model may assist in the identification of novel differentially expressed genes relevant to ES and provide further insight into the cell(s) of origin developing ES-associated genetic fusions..     ///    \"Consistent with recent findings in human ES tumor cell lines, C2C12-EWS/FLI-1 cells constitutively expressed cyclin D1 and demonstrated decreased expression of the cell cycle regulator p21(cip1), even under differentiation conditions and at confluent density. \"    ///    \"Alteration of mesodermal cell differentiation by EWS/FLI-1, the oncogene implicated in Ewing\'s sarcoma.. \"    ///    \"To study this oncogene in a conceptually relevant target cell, EWS/FLI-1 was introduced into the murine cell line C2C12, a myoblast cell line capable of differentiation into muscle, bone, or fat. \"    ///    \"In this cellular context, EWS/FLI-1 profoundly inhibited the myogenic differentiation program. \"    ///    \"Interestingly, C2C12-EWS/FLI-1 cells constitutively expressed alkaline phosphatase, a bone lineage marker, and were alkaline phosphatase positive by histochemistry but showed no other evidence of bone lineage commitment. \"'), ('2750', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '22875638', '134', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The AML1-ETO fusion transcription factor is generated by the t(8;21) translocation, which is present in approximately 4%-12% of adult and 12%-30% of pediatric acute myeloid leukemia (AML) patients.     ///    AML1-ETO driven acute leukemia: insights into pathogenesis and potential therapeutic approaches..     ///    Both human and mouse models of AML have demonstrated that AML1-ETO is insufficient for leukemogenesis in the absence of secondary events.     ///    \"In this review, we discuss the pathogenetic insights that have been gained from identifying the various events that can cooperate with AML1-ETO to induce AML in vivo. \"'), ('2751', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '21394739', '134', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'The effect of TMPRSS2/ERG gene fusions had differing effects on radiosensitivity and chemosensitivity depending on cell line and fusion type.     ///    Further work is needed with clinical samples to establish whether TMPRSS2/ERG gene fusions affect radio- and chemosensitivity in vivo..     ///    \"Expression of TMPRSS2/ETS-related gene (ERG) fusion gene transcripts is linked with tumor proliferation, invasion, and an aggressive phenotype. \"    ///    Clonogenic survival of PC3 and DU145 cells stably expressing TMPRSS2/ERG Types III and VI fusion genes was measured after X-irradiation (0-8?Gy) and Paclitaxel. '), ('2752', 'HLF_E2A', 't(17;19) / t(17;19)(q22;p13) / ', 'HLF', 'E2A', '19887369', '134', 'leukemia\r\r', '', '', 'Oncogene', '', '', '', '', '', ' The E2A-HLF fusion transcription factor generated by t(17;19)(q22;p13) translocation is found in a small subset of pro-B cell acute lymphoblastic leukemias (ALLs) and promotes leukemogenesis by substituting for the antiapoptotic function of cytokines.     ///    \"These data indicated that reversal of AIF translocation by Survivin, which is induced by E2A-HLF throughout the cell cycle, is one of the key mechanisms in the protection of t(17;19)+ leukemia cells from apoptosis.. \"    ///    \"Forced expression of E2A-HLF in t(17;19)(-) leukemia cells up-regulated Survivin expression, suggesting that Survivin is a downstream target of E2A-HLF. \"    ///    Here we show that t(17;19)+ ALL cells express Survivin at high levels and that a dominant negative mutant of E2A-HLF suppresses Survivin expression.     ///    Up-regulation of survivin by the E2A-HLF chimera is indispensable for the survival of t(17;19)-positive leukemia cells..     ///    Reporter assays revealed that E2A-HLF induces survivin expression at the transcriptional level likely through indirect down-regulation of a cell cycle-dependent cis element in the promoter region. '), ('2753', 'BCR_ABL1', '', 'BCR', 'ABL1', '19592507', '134', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Not only did a paired-end approach provide a greater dynamic range in comparison with single read based approaches, but it clearly distinguished the high-level \"driving\" gene fusions, such as BCR-ABL1 and TMPRSS2-ERG, from potential lower level \"passenger\" gene fusions. '), ('2754', 'MKRN1_BRAF', '', 'MKRN1', 'BRAF', '26680454', '134', 'thyroid carcinoma;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We found novel anaplastic gene fusions including MKRN1-BRAF, FGFR2-OGDH and SS18-SLC5A11, all expressed in-frame fusions involving a known proto-oncogene. '), ('2755', 'NUP93_CYB5B', '', 'NUP93', 'CYB5B', '26496030', '134', '', '', '', '', '', '', '', '', '', 'Five significant gene fusions were found of which NUP93-CYB5B was validated. '), ('2756', 'FUS_ATF1', 't(12;22)(q13;q12) / ', 'FUS', 'ATF1', '15884099', '134', 'clear cell sarcoma;fibrous histiocytoma;sarcoma;histiocytoma\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'both of these had a FUS-ATF1 fusion gene. '), ('2757', 'NFIB_MYB', 't(6;9)  / 1p36.33 / ', 'NFIB', 'MYB', '22505352', '133', 'adenoid cystic carcinoma\r\r', '', '', '', '', '', '', 'KB', '', 'Besides the recently identified MYB-NFIB fusion oncogene generated by a t(6;9) translocation, little is known about other genetic alterations in ACC.     ///    \"Besides the recently identified MYB-NFIB fusion oncogene generated by a t(6;9) translocation, little is known about other genetic alterations in ACC.\"    ///    \"Eighty-six percent of the tumors expressed MYB-NFIB fusion transcripts and 97% overexpressed MYB mRNA, indicating that MYB activation is a hallmark of ACC. \"'), ('2758', 'TAL1_SIL', 'del(1p) / del(1p)  / ', 'TAL1', 'SIL', '12681356', '133', 'T ALL;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', 'Measurement of SIL-TAL1 fusion gene transcripts associated with human T-cell lymphocytic leukemia by real-time reverse transcriptase-PCR..     ///    A reverse transcriptase real-time PCR assay to quantify SIL-TAL1 fusion genes is described.     ///    A SIL-TAL1 fusion gene RNA transcript was built that permitted absolute standard curves to be generated.     ///    \"No RAG2 expression was detected in these expanded samples, suggesting that the clones bearing the SIL-TAL1 fusion gene may have existed at low levels prior to the ex vivo expansion.. \"    ///    \"However, when lymphocytes from three adults were cultured in vitro the SIL-TAL1 transcript was detectable in the RNA isolates. \"    ///    None of the samples showed any SIL-TAL1 expression. ');
