INSERT INTO `ChimerPub_dump` VALUES ('4739', 'BCR_ABL1', '', 'BCR', 'ABL1', '26147002', '94', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The down-modulation of the ?-catenin antagonist Chibby 1 (CBY1) associated with the BCR-ABL1 fusion gene of chronic myeloid leukemia (CML) contributes to the aberrant activation of ?-catenin, particularly in leukemic stem cells (LSC) resistant to tyrosine kinase (TK) inhibitors. '), ('4740', 'RARA_FIP1L1', '', 'RARA', 'FIP1L1', '24763514', '94', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', ' FIP1-like 1 (FIP1L1) is associated with two leukemogenic fusion genes: FIP1L1-retinoic acid receptor alpha (RARA) and FIP1L1-platelet-derived growth factor receptor alpha (PDGFRA).     ///    Analyses of a series of deletion mutants revealed that the FIP1 motif in FIP1L1-RARA plays a pivotal role in its homodimerization and transcriptional repressor activity.     ///    FIP1L1 presence in FIP1L1-RARA or FIP1L1-PDGFRA differentially contributes to the pathogenesis of distinct types of leukemia.. '), ('4741', 'TCF3_PBX1', '', 'TCF3', 'PBX1', '20620598', '94', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', ' An international project was conducted to identify the common acute lymphoblastic leukemia (ALL)-specific fusion genes (ETV6-RUNX1,MLL-AF4,TCF3-PBX1, and BCR-ABL1) in developing countries to provide additional prognostic information at diagnosis. '), ('4742', 'NPY_CAT', '', 'NPY', 'CAT', '1323021', '94', '', '', '', '', '', 'Receptor', '', '', '', 'To identify sequences in this gene that regulate tissue-specific expression, a NPY/CAT fusion gene, containing approximately 850 bp of NPY sequences, was microinjected into fertilized mouse ova. '), ('4743', 'Lysozyme_CAT', '', 'Lysozyme', 'CAT', '3416833', '94', '', '', '', '', '', '', '', '', '', 'By transient transfection of lysozyme-CAT fusion genes into the human breast cancer cell line T-47D, a DNA element was identified which stimulates CAT expression when transfected cells are treated with progesterone. '), ('4744', 'SLC34A2_ROS1', '', 'SLC34A2', 'ROS1', '27066085', '94', 'non small cell lung cancer;squamous cell carcinoma;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'RNA-seq data identified oncogenic fusion genes EML4-ALK and SLC34A2-ROS1 in three of 86 normal-cancer paired samples. '), ('4745', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '19152679', '94', 'prostate cancer;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Using this array, proof of principle was demonstrated by detection of known fusion genes (such as TCF3:PBX1, ETV6:RUNX1, and TMPRSS2:ERG) from all six positive controls consisting of leukemia cell lines and prostate cancer biopsies. '), ('4746', 'TAT_LRIG1', '', 'TAT', 'LRIG1', '25661388', '94', 'neuroblastoma\r\r', '', '', '', '', '', '', '', '', 'In this study, human LRIG1 was cloned and LRIG1-TAT fusion gene was constructed.     ///    In vivo transduction showed that LRIG1-TAT protein can be presented in living animal organs.     ///    Western blot assay and immunofluorescence microscopy were employed for monitoring LRIG1-TAT protein transduction into human neuroblastoma cells.     ///    Cell proliferation and invasion were measured for evaluating the effect of LRIG1-TAT on neuroblastoma cell. '), ('4747', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '25972242', '94', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'The TMPRSS2/ERG (T/E) fusion gene is present in approximately 50% of prostate cancers and promotes tumor progression in vivo. '), ('4748', 'TEL_AML1', '', 'TEL', 'AML1', '26214469', '94', 'leukemia\r\r', '', '', '', '', '', '', '', '', ' We investigated the expression differences of the TEL-AML1 fusion gene in a leukemia glucocorticoid (GC)-sensitive cell line (CEM) and a GC-resistant cell line (Jurkat).     ///    Expression differences in TEL-AML1 fusion gene in leukemia glucocorticoid-sensitive and -resistant cell lines..     ///    \"A methyl thiazolyl tetrazolium assay was used to detect cell proliferation inhibition, flow cytometry was used to observe cell apoptosis, reverse transcription-polymerase chain reaction was used to detect the mRNA expression of TEL-AML1 before and after exposure, and western blotting was used to analyze protein levels of TEL-AML1 before and after exposure. \"    ///    Changes in TEL-AML1 expression before and after GC exposure were analyzed.     ///    Inhibition of TEL-AML1 may provide a new therapeutic approach to reverse GC resistance.     ///    Sustained high expression of TEL-AML1 participated in and maintained the occurrence of GC resistance.     ///    \"In the exposed group, Jurkat cells showed higher TEL-AML1 expression than did CEM cells (P < 0.05). \"    ///    \"In the unexposed group, TEL-AML1 gene expression in Jurkat cells was not affected by GC exposure (P > 0.05), while the CEM cells presented significant differences before and after exposure (P < 0.05). \"'), ('4749', 'NUP98_CCDC28A', 't(6;11) / ', 'NUP98', 'CCDC28A', '22058212', '94', 'myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', 'KB', '', 'We report here the functional analysis of the NUP98-coiled-coil domain-containing protein 28A (NUP98-CCDC28A) fusion protein, expressed as the consequence of a recurrent t(6;11)(q24.1;p15.5) translocation.     ///    \"In addition, the transformation mediated by NUP98-CCDC28A was not associated with deregulation of the Hoxa-Meis1 pathway, a feature shared by a diverse set of NUP98 fusions. \"    ///    \"Primary murine hematopoietic progenitor cells transduced with NUP98-CCDC28A generated a fully penetrant and transplantable myeloproliferative neoplasm-like myeloid leukemia and induced selective expansion of granulocyte/macrophage progenitors in the bone marrow of transplanted recipients, showing that NUP98-CCDC28A promotes the proliferative capacity and self-renewal potential of myeloid progenitors. \"    ///    Our results demonstrate that the recurrent NUP98-CCDC28A is an oncogene that induces a rapid and transplantable myeloid neoplasm in recipient mice.     ///    Functional analysis of the NUP98-CCDC28A fusion protein..     ///    \"To assess the in vivo effects of the NUP98-CCDC28A fusion, NUP98-CCDC28A or full length CCDC28A were retrovirally transduced into primary murine bone marrow cells and transduced cells were next transplanted into sub-lethally irradiated recipient mice. \"'), ('4750', 'CMA1_MLC2', '', 'CMA1', 'MLC2', '10453502', '94', '', '', '', '', '', '', '', '', '', '[The expression of MLC2-chymase fusion gene in cultured neonatal myocardial cells]..     ///     A series of MLC2-chymase fusion genes consisting of nested 5\' deletion of the chymase promoter region were constructed and transfected into primary cultured neonatal Wistar rat myocardial cells according to the modified calcium phosphate precipitation method.     ///    The highest level of expression was found with the MLC2-chymase construct containing 6 bp of the chymase promoter region. '), ('4751', 'PAX3_FKHR', 't(11;22)  / t(2;13)  / ', 'PAX3', 'FKHR', '14518398', '94', 'synovial sarcoma;ewing sarcoma;rhabdomyosarcoma;ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Fusion genes, such as EWS-FLI1 and PAX3-FKHR, were cloned at the chromosome breakpoints of t(11;22) and t(2;13) in Ewing\'s sarcoma and rhabdomyosarcoma, respectively. '), ('4752', 'PAX7_FKHR', '', 'PAX7', 'FKHR', '22197543', '94', 'ewing sarcoma;rhabdomyosarcoma;neuroblastoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The role of PAX3/PAX7-FKHR fusion gene has been reported in ARMS but not in ERMS and SRCT.     ///    One-step reverse transcriptase polymerase chain reaction assays for the PAX3/PAX7-FKHR fusion transcripts were performed.     ///    Detection of PAX3/PAX7-FKHR fusion transcripts by 1-step reverse transcriptase polymerase chain reaction is a novel tool for RMS diagnosis and differentiation..     ///    Detection of PAX3/PAX7-FKHR fusion transcripts in rhabdomyosarcoma and other small round cell tumors by 1-step reverse transcriptase polymerase chain reaction: a novel tool for diagnosis and differentiation..     ///    \"PAX3-FKHR fusion transcript was detected in 9 ARMS samples, PAX7-FKHR fusion transcript was detected in 7 ARMS samples, and 2 uncertain SRCTs were detected. \"'), ('4753', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '20068066', '94', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'PAX3-FKHR fusion gene).     ///    \"Furthermore, CXCR4 expression in PAX3-FKHR(+) RMS cells seems to be enhanced because of the interaction of PAX3-FKHR and NRF-1 proteins in the proximal part of the promoter that prevents access of the negative regulator of transcription YY1 to its binding site. \"    ///    \"Next, promoter deletion and mutation studies revealed that whereas (a) expression of CXCR4 in RD and RD/PAX3-FKHR cells required nuclear respiratory factor-1 (NRF-1) binding site and (b) was additionally upregulated by direct interaction of NRF-1 with PAX3-FKHR, CXCR7 promoter activity required a proximal nuclear factor-kappaB-binding motif. \"    ///    \"First, CXCR4 is barely detectable in RD and becomes upregulated in RD/PAX3-FKHR cells. \"    ///    \"The upregulation of CXCR4 and downregulation of CXCR7 expression by PAX3-FKHR or hypoxia may give SDF-1 an advantage to better engage the CXCR4 receptor, thus increasing RMS motility.. \"    ///    \"In contrast, CXCR7 highly expressed in RD becomes downregulated in RD/PAX3-FKHR cells. \"    ///    \"Finally, although hypoxia enhances CXCR4 and CXCR7 promoter activity and receptor expression in RD cells, it inhibits CXCR7 expression in RD/PAX3-FKHR cells. \"'), ('4754', 'ETV6_ARG', '', 'ETV6', 'ARG', '25373509', '94', 'acute promyelocytic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' We investigated the role of ETV6/ARG fusion gene by exposing the HT93A cell line to nilotinib.     ///    ETV6/ARG oncoprotein confers autonomous cell growth by enhancing c-Myc expression via signal transducer and activator of transcription 5 activation in the acute promyelocytic leukemia cell line HT93A..     ///    Our data suggest that ETV6/ARG oncoprotein is a potential target in the treatment of leukemia..     ///    \"These findings suggest that the ETV6/ARG oncoprotein contributes to autonomous cell growth by compensating for the requirement of growth factor through activating STAT5 signaling, which leads to the up-regulation of c-Myc. \"'), ('4755', 'TEL_AML1', '', 'TEL', 'AML1', '22238115', '94', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'One patient had both TEL-AML1 and E2A-PBX1 fusion genes.     ///    The incidence of TEL-AML1 in Iraqi ALL children appears to be similar to or slightly higher than those of Jordan (12%) and Kuwait (7%).     ///    \"We here report the frequency of TEL-AML1, E2A-PBX1, MLL-AF4, and BCR-ABL chimeric transcripts in 264 Iraqi children newly diagnosed with acute lymphoblastic leukemia (ALL), using FTA cards impregnated with bone marrow aspirate or whole blood. \"    ///    TEL-AML1 chimeric transcript product was found in 32 (12.1%) of 264 ALL patients. '), ('4756', 'GAL4_CREB', '', 'GAL4', 'CREB', '8384857', '94', '', '', '', '', '', '', '', '', '', 'Moreover, expression of GAL4-CREB fusion genes shows that 5-HT induction requires phosphorylation of CREB on Ser119 by protein kinase A. '), ('4757', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '20620598', '94', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Across the four countries, the ETV6-RUNX1 (TEL-AML1) fusion gene was present in only 5% of cases.     ///    \" An international project was conducted to identify the common acute lymphoblastic leukemia (ALL)-specific fusion genes (ETV6-RUNX1,MLL-AF4,TCF3-PBX1, and BCR-ABL1) in developing countries to provide additional prognostic information at diagnosis. \"'), ('4758', 'RET_PTC1', '', 'RET', 'PTC1', '22961909', '94', 'thyroid carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'We did a comprehensive screen for 548 known and putative fusion genes in 27 samples of thyroid tumors and three positive controls-one thyroid cancer cell line (TPC-1) and two PTCs with known CCDC6-RET (alias RET/PTC1) fusion gene, using this microarray.     ///    \"Our results reinforce the pathogenic role played by RET/PTC1, RET/PTC3, and PAX8-PPARG fusion genes in thyroid tumorigenesis.. \"'), ('4759', 'BCR_ABL1', '', 'BCR', 'ABL1', '21382019', '94', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Molecular testing for the BCR-ABL1 fusion gene by real time quantitative polymerase chain reaction (RT-qPCR) is the most sensitive routine approach for monitoring the response to therapy of patients with chronic myeloid leukaemia.     ///    Guidelines for the measurement of BCR-ABL1 transcripts in chronic myeloid leukaemia.. '), ('4760', 'SYT_SSX', '', 'SYT', 'SSX', '11720441', '94', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'SYT-SSX fusion genes and prognosis in synovial sarcoma..     ///     A case series of 64 synovial sarcomas was characterized for the SYT-SSX fusion transcripts and statistically analysed in order to correlate molecular data with prognosis and morphology. '), ('4761', 'TCF3_PBX1', '', 'TCF3', 'PBX1', '19152679', '94', 'prostate cancer;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Using this array, proof of principle was demonstrated by detection of known fusion genes (such as TCF3:PBX1, ETV6:RUNX1, and TMPRSS2:ERG) from all six positive controls consisting of leukemia cell lines and prostate cancer biopsies. '), ('4762', 'MALT1_API2', 't(11;18)(q21;q21) / ', 'MALT1', 'API2', '14614598', '94', 'MALT lymphoma;B cell lymphoma;lymphoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'pylori) eradication treatment, and many of them contain an API2-MALT1 chimeric transcript mediated by t(11;18)(q21;q21) translocation.     ///    Gastric MALT lymphoma characterized by unresponsiveness to antibacterial treatment contains all API2-MALT1 chimeric transcript-positive cases and may constitute a distinct group often seen with nodal involvement and an advanced clinical stage.     ///    All cases were examined for API2-MALT1 chimeric transcript by means of RT-PCR and sequencing analyses using RNA extracted from tissues.     ///    \"pylori infection status, responsiveness to antibacterial treatment, and API2-MALT1 chimeric transcript of gastric MALT lymphoma in a unicenter study experience and discuss the clinicopathologic significance of API2-MALT1 chimeric transcript in gastric MALT lymphoma. \"    ///    \"pylori or API2-MALT1 chimeric transcript status revealed a lesser number of the statistically significant factors (two and three, respectively). \"    ///    \"pylori infection, API2-MALT1 chimeric transcript, cobblestone mucosa and submucosal tumor in gross appearance, nodal involvement, and clinical stage) were statistically significant. \"    ///    \"API2-MALT1 chimeric transcript was detected in 9 patients, all of whom showed no change in response to treatment. \"'), ('4763', 'UCP1_CAT', '', 'UCP1', 'CAT', '9618150', '94', '', '', '', '', '', '', '', '', '', 'Transient transfection of dominant-negative form of phosphatidylinositol (PI) 3-kinase completely blocked the transactivation of the fusion gene UCP1-CAT induced by either IGF-I or insulin, although inhibition of p70S6kinase with rapamycin does not preclude transactivation of the UCP1 promoter by insulin.     ///    \"Furthermore, transient transfection of dominant-negative form of p21-ras or treatment of cells with a mitogen-activated protein kinase kinase (MEK-1) inhibitor (PD098059) completely abolished insulin-induced UCP1-CAT transactivation. \"'), ('4764', 'POMC_CAT', '', 'POMC', 'CAT', '2545484', '94', '', '', '', '', '', '', '', '', '', 'Forskolin, an adenylate cyclase-activating agent, stimulated the expression of POMC-CAT fusion genes. '), ('4765', 'STAT6_NAB2', '', 'STAT6', 'NAB2', '25667482', '94', 'solitary fibrous tumor\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'FDG PET/CT and MR imaging of CD34-negative soft-tissue solitary fibrous tumor with NAB2-STAT6 fusion gene.. '), ('4766', 'PENK_CAT', '', 'PENK', 'CAT', '1695733', '94', '', '', '', '', '', '', '', '', '', ' DNA methylation at HpaII (CmCGG) sites inhibits expression of a human proenkephalin-CAT fusion gene when it is transiently expressed in CV-1 cells or stably expressed in C6-glioma cells. '), ('4767', 'ICOS_CD28', '', 'ICOS', 'CD28', '27169444', '94', 'T cell leukemia;leukemia;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Among these, PLCG1, PRKCB, CARD11, VAV1, IRF4, CCR4, and CCR7 activating mutations and CTLA4-CD28 and ICOS-CD28 fusion genes have been identified. '), ('4768', 'BCR_ABL1', '', 'BCR', 'ABL1', '20620598', '94', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In the 18 ALL cases tested in Sudan, a notable excess of MLL-AF4 (17%) and BCR-ABL1 (22%) fusion genes was found.     ///    \" An international project was conducted to identify the common acute lymphoblastic leukemia (ALL)-specific fusion genes (ETV6-RUNX1,MLL-AF4,TCF3-PBX1, and BCR-ABL1) in developing countries to provide additional prognostic information at diagnosis. \"'), ('4769', 'ETO_AML1', '', 'ETO', 'AML1', '22289984', '94', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'ChIP-chip analysis of human hematopoietic stem/progenitor cells transduced with the AML1-ETO fusion gene enabled us to identify 1168 AML1-ETO target genes, 103 of which were co-occupied by histone deacetylase 1 (HDAC1) and had lost the hyperacetylation mark at histone H4, and 264 showed a K9 trimethylation at histone H3.     ///    \"Furthermore, AML1-ETO target genes had a significant correlation between the chromatin marks studied and transcriptional silencing. \"    ///    \"Therefore, this study provides a global analysis of AML1-ETO functional chromatin modifications and identifies the important role of Sp1 in the DNA binding pattern of AML1-ETO, suggesting a role for Sp1-targeted therapy in this leukemia subtype.. \"    ///    \"Interestingly, AML1 binding sites were absent on a large number of selected AML1-ETO promoters and an Sp1 binding site was found in over 50% of them. \"    ///    \" The AML1-ETO fusion protein, which is present in 10-15% of cases of acute myeloid leukemia, is known to repress myeloid differentiation genes through DNA binding and recruitment of chromatin-modifying proteins and transcription factors in target genes. \"    ///    Chromatin modifications induced by the AML1-ETO fusion protein reversibly silence its genomic targets through AML1 and Sp1 binding motifs.. '), ('4770', 'S14_CAT', '', 'S14', 'CAT', '1417866', '94', '', '', '', '', '', '', '', '', '', 'Transfection of 3T3-L1 cells with S14-CAT fusion genes showed that adipocyte-specific RA responsive cis-acting elements are located between -1588 and -1381 bp upstream from the 5\' end of the S14 gene. '), ('4771', 'PAX7_PAX3', '', 'PAX7', 'PAX3', '22197543', '94', 'ewing sarcoma;rhabdomyosarcoma;neuroblastoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The role of PAX3/PAX7-FKHR fusion gene has been reported in ARMS but not in ERMS and SRCT.     ///    Detection of PAX3/PAX7-FKHR fusion transcripts in rhabdomyosarcoma and other small round cell tumors by 1-step reverse transcriptase polymerase chain reaction: a novel tool for diagnosis and differentiation..     ///    Detection of PAX3/PAX7-FKHR fusion transcripts by 1-step reverse transcriptase polymerase chain reaction is a novel tool for RMS diagnosis and differentiation..     ///    One-step reverse transcriptase polymerase chain reaction assays for the PAX3/PAX7-FKHR fusion transcripts were performed. '), ('4772', 'NOTCH1_TCRB', 't(7;9)(q34;q34) / ', 'NOTCH1', 'TCRB', '16688224', '93', 'T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', '', '', '', 'CUTLL1 cells harbor a t(7;9)(q34;q34) translocation which induces the expression of a TCRB-NOTCH1 fusion transcript encoding a membrane-bound truncated form of the NOTCH1 receptor. '), ('4773', 'MALT1_API2', 't(1;14) / t(11;18) / ', 'MALT1', 'API2', '11262391', '93', 'MALT lymphoma', '', '', '', '', '', '', '', '', 'The second, t(11;18), results in the synthesis of a novel fusion protein, API2-MALT1.     ///    We propose a model whereby both the Bcl10.MALT1 complex and the API2-MALT1 fusion protein activate a common downstream signaling pathway that originates with the oligomerization-dependent activation of the MALT1 caspase-like domain..     ///    \"Furthermore, the API2-MALT1 fusion protein also strongly activates NF-kappaB and shows dependence upon the same downstream signaling factors. \"'), ('4774', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '22930729', '93', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Using a sequencing-based approach, our work uncovers significant global epigenetic alterations in TMPRSS2-ERG gene fusion-negative tumors and provides a mechanistic explanation for the tumor formation process..     ///    \"In addition, global methylation patterns show significant differences based on the TMPRSS2-ERG rearrangement status. \"    ///    \"In contrast to TMPRSS2-ERG -rearranged tumors, the pathomechanism for gene fusion-negative tumors is completely unclear. \"'), ('4775', 'RARA_NPM', 't(5;17)(q35;q21) / t(15;17)(q22;q21) / ', 'RARA', 'NPM', '25033841', '93', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'The resultant NPM-RAR fusion protein blocks myeloid differentiation and leads to a leukemic phenotype similar to that caused by the t(15;17)(q22;q21) PML-RAR fusion.     ///    The contribution of the N-terminal 117 amino acids of NPM contained within NPM-RAR has not been well studied.     ///    This study identifies a novel mechanism through which NPM-RAR affects leukemogenesis..     ///    \"Therefore, a proteomic analysis was conducted to identify novel NPM-RAR-associated proteins. \"    ///    \"Biologic assessment found that NPM-RAR expression impaired TNF-induced signaling through TRADD, blunting TNF-mediated activation of caspase-3 (CASP3) and caspase-8 (CASP8), to ultimately block apoptosis. \"    ///    Extrinsic apoptosis is impeded by direct binding of the APL fusion protein NPM-RAR to TRADD.. '), ('4776', 'FGFR1_BCR', 't(8;22)(p11;q11) / t(9;22)(q34;q11) / t(8;22)  / ', 'FGFR1', 'BCR', '11746971', '93', 'myeloproliferative disorder;chronic myeloid leukemia;myeloid leukemia;leukemia;hematologic malignancy\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'On the mRNA level, the t(8;22) results in the fusion of BCR exons 1-4 in-frame with the tyrosine kinase domain of FGFR1 as well as in the expression of a reciprocal FGFR1/BCR chimeric transcript. '), ('4777', 'MLT_API2', 't(11;18)(q21;q21) / t(1;14)(p22;q32) / ', 'MLT', 'API2', '11830492', '93', 'lymphoma\r\r', '', '', '', '', '', '', '', '', 'The first, t(11;18)(q21;q21), results in the fusion protein API2-MLT (API2-MALT1).     ///    \"BCL10 mutation does not represent an important pathogenic mechanism in gastric MALT-type lymphoma, and the presence of the API2-MLT fusion is associated with aberrant nuclear BCL10 expression.. \"    ///    \"In contrast, they indicate that the presence of the API2-MLT fusion protein is associated with aberrant nuclear BCL10 expression.. \"'), ('4778', 'NCOA2_ETV6', 't(8;12)(q13;p13) / ', 'NCOA2', 'ETV6', '18281529', '92', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia;hematologic malignancy\r\r', 'PCR;ISH', '', '', '', '', 'Transcription_Factor', '', '', 'ETV6-NCOA2: a novel fusion gene in acute leukemia associated with coexpression of T-lymphoid and myeloid markers and frequent NOTCH1 mutations..     ///    \"In addition, ETV6-NCOA2 leukemia shows a high frequency of heterozygous activating NOTCH1 mutations, which disrupt the heterodimerization or the PEST domains. \"    ///    \"The ETV6-NCOA2 fusion may define a novel subgroup of acute leukemia with T-lymphoid and myeloid features, which is associated with a high prevalence of NOTCH1 mutations.. \"    ///    \"The ETV6-NCOA2 transcript encodes a chimeric protein that consists of the pointed protein interaction motif of ETV6 that is fused to the COOH terminus of NCOA2, including the cyclic AMP-responsive element binding protein-binding protein (CBP) interaction and the AD2 activation domains. \"    ///    The absence of the reciprocal NCOA2-ETV6 transcript in one of the cases suggests that the ETV6-NCOA2 chimeric protein and not the reciprocal NCOA2-ETV6 is responsible for leukemogenesis. '), ('4779', 'TEL_AML1', 't(12;21)  / ', 'TEL', 'AML1', '12124316', '92', 'leukemia\r\r', '', '', '', '', '', '', '', '', ' TEL-AML1 is expressed from the t(12;21) chromosomal translocation inB-precursor acute lymphocytic leukemia (ALL).     ///    \"TEL-AML1, expressed from t(12;21) in human acute lymphocytic leukemia, induces acute leukemia in mice.. \"    ///    The B-precursor ALL was retransplantable and expressed TEL-AML1.     ///    \"Two of 9 TEL-AML1 mice developed ALL (one T-lineage ALL and one B-precursor ALL), whereas 0 of 20 control mice developed leukemia. \"    ///    \"Creation of the TEL-AML1fusion disrupts one copy of the TEL and AML1 genes, and loss of TEL or AML1 is also associated with cases of acute leukemia without TEL-AML1. \"    ///    \"Overall, these findings indicate that TEL-AML1 contributes to leukemogenesis and may cooperate with loss of p16(INK4a)p14(ARF) to transform lymphoid progenitors.. \"    ///    \"No control mice died, but six of eight TEL-AML1/p16p19 mice died with leukemia. \"    ///    \"To determine whether TEL-AML1 can contribute to leukemogenesis, we transduced marrow from C57BL/6 mice with a retroviral vector expressing TEL-AML1 or with a control vector. \"'), ('4780', 'Immunoglobulin _BCL2', '', 'Immunoglobulin ', 'BCL2', '1987477', '92', 'follicular lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', '18) translocates the Bcl-2 gene, generating a deregulated Bcl-2-immunoglobulin fusion gene.     ///    \"18) translocation, we produced transgenic mice bearing a Bcl-2-immunoglobulin minigene that structurally mimicked the t(14. \"'), ('4781', 'IGH_BCL6', 't(8;14)(q24;q32) / t(14;18)(q32;q21) / t(3;14)(q27;q32) / ', 'IGH', 'BCL6', '23772639', '92', 'B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', '', '', '', 'Among HIV-uninfected cases, MYC/IgH [t(8;14)(q24;q32)] and IgH/BCL2 [t(14;18)(q32;q21)] translocations were significantly more common and BCL6/IgH [t(3;14)(q27;q32)] significantly less common in GCB-DLBCL than in ABC-DLBCL (p = 0.010, < 0.001 and = 0.039, respectively). '), ('4782', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '15621811', '92', 'leukemia\r\r', 'PCR', '', '', '', '', '', '', '', ' AML1-ETO is generated by the t(8;21) translocation found in approximately 12% of acute myelogenous leukemia.     ///    \"Furthermore, the leukemogenic potential of AML1/ETO expressed in human progenitors is low, despite transcription levels equivalent to those found in AMLs.. \"    ///    The goal of this study was to determine the effect of AML1-ETO expression on primary human hematopoietic cells in vitro and in a xenograft model.     ///    \"The capacity for prolonged survival, however, did not abrogate maturation, as AML1-ETO cells gave rise to normal colonies in a CFU-assay. \"    ///    AML1/ETO promotes the maintenance of early hematopoietic progenitors in NOD/SCID mice but does not abrogate their lineage specific differentiation..     ///    AML1-ETO expressing cells were expandable for up to 12 weeks and retained an immature morphology.     ///    \"Our findings demonstrate that AML1/ETO promotes the maintenance of early human hematopoietic progenitors, but does not abrogate their physiologic differentiation. \"    ///    Studies to delineate the mechanism by which AML1-ETO induces leukemia have primarily relied on transformed human cell lines or murine model systems.     ///    \"Although able to engraft all major lineages, AML1/ETO transplanted cells were primarily found in less differentiated fractions as measured by cell surface markers CD34 and CD38. \"    ///    \"AML1/ETO-expressing cells also contributed to myeloid (CD15, CD33), B-lymphoid (CD20), NK-cell (CD56) and erythroid (GPA) lineages in xenografted NOD/SCID mice. \"    ///    We used a FMEV retroviral vector for the transfer of AML1/ETO into human CD34 + cells. '), ('4783', 'ETO_AML1', 't(8;21)(q22;q22) / ', 'ETO', 'AML1', '12881486', '92', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The t(8;21)(q22;q22) translocation, occurring in 40% of patients with acute myeloid leukemia (AML) of the FAB-M2 subtype (AML with maturation), results in expression of the RUNX1-CBF2T1 [AML1-ETO (AE)] fusion oncogene.     ///    \"An activated receptor tyrosine kinase, TEL/PDGFbetaR, cooperates with AML1/ETO to induce acute myeloid leukemia in mice.. \"'), ('4784', 'MTG8_AML1', 't(8;21)  / ', 'MTG8', 'AML1', '9674748', '92', '', '', '', '', '', '', '', '', '', ' The MTG8 (ETO) gene has been identified as the translocation partner of AML1 (PEBP2alphaB or CBFalpha2) gene in the AML1/MTG8 (ETO) fused gene caused by t(8;21) translocation in human acute myeloid leukaemia, M2 type. '), ('4785', 'FUT2_FUT1', '19p13.3 / ', 'FUT2', 'FUT1', '8952881', '92', '', 'PCR', '', '', '', '', '', '', '', 'We have previously assigned FUT4 to 11q21, the cluster FUT1-FUT2 to 19q13.3 and the cluster FUT6-FUT3-FUT5 to 19p13.3. '), ('4786', 'NUP98_NSD1', 't(5;11) / ', 'NUP98', 'NSD1', '24951466', '92', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', ' The NUP98-NSD1 fusion, product of the t(5;11)(q35;p15.5) chromosomal translocation, is one of the most prevalent genetic alterations in cytogenetically normal pediatric acute myeloid leukemias and is associated with poor prognosis.     ///    \"In contrast, neither NUP98-NSD1 nor FLT3-ITD single transduced cells were able to initiate leukemia. \"    ///    Transplantation of immortalized progenitors co-expressing NUP98-NSD1 and FLT3-ITD into mice resulted in acute myeloid leukemia after a short latency.     ///    \"Interestingly, as reported for patients carrying NUP98-NSD1, an increased Flt3-ITD to wild-type Flt3 mRNA expression ratio with increased FLT3-signaling was associated with rapidly induced disease. \"    ///    \"Expression of NUP98-NSD1 provided mouse strain-dependent, aberrant self-renewal potential to bone marrow progenitor cells. \"    ///    \"In contrast, there was no difference in the expression levels of the NUP98-NSD1 fusion or its proposed targets HoxA5, HoxA7, HoxA9 or HoxA10 between animals with different latencies to develop disease. \"    ///    Potent co-operation between the NUP98-NSD1 fusion and the FLT3-ITD mutation in acute myeloid leukemia induction..     ///    \"To address functional synergism, we determined the transforming potential of retrovirally expressed NUP98-NSD1 and FLT3-ITD in the mouse. \"'), ('4787', 'RUNX1_ETO', 't(8;21)  / ', 'RUNX1', 'ETO', '21937700', '92', 'acute myeloid leukemia;myeloid leukemia;leukemia;sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' The t(8;21) RUNX1-ETO translocation is one of the most frequent cytogenetic abnormalities in acute myeloid leukemia (AML).     ///    \"In RUNX1-ETO(+) patient samples, differing classes of activating c-KIT receptor tyrosine kinase mutations have been observed. \"    ///    Analysis of reconstituted animals showed that RUNX1-ETO;c-Kit(D814V) coexpression resulted in 3 nonoverlapping phenotypes.     ///    \"In contrast, RUNX1-ETO;c-Kit(T417I?418-419) coexpression promoted exclusively AML in a fraction (51%) of reconstituted mice. \"    ///    \"To test whether distinct subtypes of activating c-KIT mutations differ in their leukemogenic potential in association with RUNX1-ETO, we used a retroviral transduction/transplantation model to coexpress RUNX1-ETO with either c-Kit(D814V) or c-Kit(T417I?418-419) in murine hematopoietic stem/progenitor cells used to reconstitute lethally irradiated mice. \"'), ('4788', 'MYC_IGH', 't(8;14)(q24;q32) / t(14;18)(q32;q21) / t(3;14)(q27;q32) / ', 'MYC', 'IGH', '23772639', '92', 'B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Among HIV-uninfected cases, MYC/IgH [t(8;14)(q24;q32)] and IgH/BCL2 [t(14;18)(q32;q21)] translocations were significantly more common and BCL6/IgH [t(3;14)(q27;q32)] significantly less common in GCB-DLBCL than in ABC-DLBCL (p = 0.010, < 0.001 and = 0.039, respectively).     ///    \"Among HIV-infected cases, translocations other than MYC/IgH [t(8;14)(q24;q32)] (21%) were rare (? 6%) and unrelated to cell of origin. \"'), ('4789', 'ETO_AML1', 't(8;21)(q22;q22) / t(8;21)  / ', 'ETO', 'AML1', '12101243', '92', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The t(8;21)(q22;q22) translocation, which fuses the ETO gene on human chromosome 8 with the AML1 gene on chromosome 21 (AML1-ETO), is one of the most frequent cytogenetic abnormalities associated with acute myelogenous leukemia (AML).     ///    We have generated a murine model of the t(8;21) translocation by retroviral expression of AML1-ETO in purified hematopoietic stem cells (HSC).     ///    Hematopoietic stem cell expansion and distinct myeloid developmental abnormalities in a murine model of the AML1-ETO translocation..     ///    This suggests that the principal contribution of AML1-ETO to acute myeloid leukemia is the inhibition of multiple developmental pathways..     ///    \"HSC numbers in the bone marrow of 10-month-posttransplant animals were 29-fold greater than in transplant-matched control mice, suggesting that AML1-ETO expression overrides the normal genetic control of HSC pool size. \"'), ('4790', 'TEL_AML1', 't(12;21) / t(9;22) / ', 'TEL', 'AML1', '26111797', '92', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', '', '', '', '', '', '', '', '', 'Additional analysis of MN1 expression in sub-groups within our cohort carrying different chromosome translocations showed that carriers of the good prognostic marker t(12;21)(TEL-AML1) (n=27) expressed significantly more MN1 than both healthy controls (n=9) (P=0.02) and the group carrying the t(9;22)(BCR-ABL) (n=9) (P=0.001).     ///    Further investigation into the clinical and biological significance of elevated MN1 expression in TEL-AML1(positive) leukemia might provide insight into additional molecular mechanisms contributing to B-ALL and may lead to improved treatment options for patients. '), ('4791', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '21731703', '92', 'prostate cancer;adenocarcinoma\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Role of TMPRSS2-ERG gene fusion in negative regulation of PSMA expression..     ///    The purpose of this investigation is to determine whether PSMA expression can be regulated by the TMPRSS2-ERG gene fusion.     ///    Our data indicated that downregulation of PSMA in androgen-treated VCaP cells appears partially mediated by TMPRSS2-ERG gene fusion..     ///    \"After 24 hours of androgen treatment, TMPRSS2-ERG mRNA level was increased in VCaP cells. \"'), ('4792', 'BCAM_AKT2', '', 'BCAM', 'AKT2', '25733895', '92', 'ovarian cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Moreover, a BCAM-AKT2 fusion gene generated via chromosomal translocation using the CRISPR/Cas9 system leads to focus formation in both OVCAR8 and HEK-293T cell lines, suggesting that BCAM-AKT2 is oncogenic.     ///    BCAM-AKT2 is the only fusion gene in HGSC that is proven to translate an aberrant yet functional kinase fusion protein with oncogenic properties.     ///    Recurrent BCAM-AKT2 fusion gene leads to a constitutively activated AKT2 fusion kinase in high-grade serous ovarian carcinoma..     ///    \"Together, the results indicate that BCAM-AKT2 expression is a new mechanism of AKT2 kinase activation in HGSC. \"    ///    \"Unlike endogenous AKT2, whose activity is tightly regulated by external stimuli, BCAM-AKT2 escapes the regulation from external stimuli. \"    ///    \"Further, we provide direct evidence that BCAM-AKT2 is translated into an in-frame fusion protein in the patient\'s tumor. \"'), ('4793', 'ALL1_AF4', 't(4;11)  / ', 'ALL1', 'AF4', '12791662', '92', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The ALL1/AF4 fusion transcript, originating from the t(4;11) translocation, was detected in 24 patients (36.4%), and the BCR/ABL chimeric product was found in 6 patients (9%), while the remaining 36 cases (54.6%) were ALL1/AF4-BCR/ABL-negative.     ///    Clinico-biologic features and treatment outcome of adult pro-B-ALL patients enrolled in the GIMEMA 0496 study: absence of the ALL1/AF4 and of the BCR/ABL fusion genes correlates with a significantly better clinical outcome..     ///    \"Our data demonstrate that in adult pro-B-ALL a distinction should be made between pro-B-ALL cases with and without the ALL1/AF4 or the BCR/ABL chimeric genes, since the absence of both of these fusion genes correlates with a significantly better clinical outcome after intensive polychemotherapy treatment without hematopoietic stem cell transplantation.. \"    ///    \"By contrast, CD13 and CD33 molecules were detected, respectively, in 3 of 6 and in 14 of 33 cases of the BCR/ABL-positive patient group, and in 2 of 6 and 9 of 35 cases of the ALL1/AF4-BCR/ABL-negative patient group. \"    ///    \"A white blood cell (WBC) count higher than 50 x 109/L was found in 13 of 24, 2 of 6, and 6 of 36 of the ALL1/AF4-positive, BCR/ABL-positive, and ALL1/AF4-BCR/AB-negative patients, respectively (P =.007). \"    ///    \"By contrast, comparing patients with or without the ALL1/AF4 gene the probability of remaining in continuous complete remission (CCR) at 3.5 years was 16% and 49.8%, respectively (P =.005). \"    ///    None of the 24 ALL1/AF4-positive patients coexpressed the CD13 and/or CD33 myeloid antigens. '), ('4794', 'TOP1_NUP98', '', 'TOP1', 'NUP98', '16939812', '91', 'acute myeloid leukemia;chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', 'KB', '', ' The NUP98-TOP1 fusion gene is one of 18 distinct translocations identified in acute myeloid leukemia involving the N-terminal portion of the nucleoporin NUP98.     ///    These results reveal the novel finding of collaboration between the ICSBP tumor suppressor gene and NUP98-TOP1 in leukemogenesis.     ///    \"However, the long latency suggests the in vivo acquisition of additional mutations and/or time required for clonal outgrowth of rare transformed cells arising from the collaboration of NUP98-TOP1 and a cooperating event. \"    ///    The in vivo myeloproliferation induced by NUP98-TOP1 was markedly exaggerated with the ICSBP(-/-) deficiency.     ///    \"To ascertain whether an ISCBP deficiency collaborates with NUP98-TOP1 in leukemogenesis, we expressed NUP98-TOP1 in ICSBP(-/-) bone marrow. \"    ///    \"Moreover, NUP98-TOP1/ICSBP(-/-) mice had a reduced survival compared with NUP98-TOP1/ICSBP(+/+) mice. \"'), ('4795', 'EWS_ERG', 't(11;22)(q24;q12) / t(21;22)(q22;q12) / t(11;22)  / t(21;22)  / ', 'EWS', 'ERG', '8617485', '91', 'neuroectodermal tumor;ewing sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In the same material, the authors have evaluated the presence of t(11;22) or t(21;22) transcripts (EWS/FLI-1 and EWS/ERG, respectively) by RT-PCR. '), ('4796', 'FLI_EWS', 't(11;22)(q24;q12) / t(21;22)(q22;q12) / t(11;22)  / t(21;22)  / ', 'FLI', 'EWS', '8617485', '91', 'neuroectodermal tumor;ewing sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In the same material, the authors have evaluated the presence of t(11;22) or t(21;22) transcripts (EWS/FLI-1 and EWS/ERG, respectively) by RT-PCR. '), ('4797', 'SFPQ_ABL1', '', 'SFPQ', 'ABL1', '21435002', '91', 'acute lymphoblastic leukemia;chronic myeloid leukemia;myeloid leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Both fusion genes (SFPQ-ABL1 and RCSD1-ABL1) characterized by a break in intron 4 of ABL1 are associated with B-cell ALL, as the chimeric proteins lacked the SH2 domain of ABL1. '), ('4798', 'BCR_ABL1', 't(9;22)  / ', 'BCR', 'ABL1', '19876398', '91', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Reciprocal t(9;22) ABL/BCR fusion proteins: leukemogenic potential and effects on B cell commitment..     ///    Our here presented data establish the reciprocal ABL/BCR fusion proteins as second oncogenes encoded by the t(9;22) in addition to BCR/ABL and suggest that ABL/BCR contribute to the determination of the leukemic phenotype through their influence on the lineage commitment..     ///    \"Interestingly, BCR/ABL gave origin exclusively to a myeloid phenotype independently from the culture conditions whereas p96(ABL/BCR) and to a minor extent p40(ABL/BCR) forced the B-cell commitment of SL-cells and UCBC. \"    ///    The leukemic potential of the ABL/BCR fusion proteins was assessed by in a transduction/transplantation model. '), ('4799', 'RARA_PLZF', 't(11;17) / t(11;17)  / t(15;17)  / ', 'RARA', 'PLZF', '8570209', '91', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'Reduced and altered DNA-binding and transcriptional properties of the PLZF-retinoic acid receptor-alpha chimera generated in t(11;17)-associated acute promyelocytic leukemia..     ///    Leukemogenesis in t(11;17) APL may be related to interference with ATRA-mediated differentiation due to sequestration of RXR by the PLZF-RAR alpha chimera.     ///    PLZF-RAR alpha stimulated ATRA-dependent transcription of RARE-containing reporter genes with diminished activity compared to wild-type RAR alpha.     ///    \"PLZF-RAR alpha, in combination with the retinoid X receptor (RXR) bound to a retinoic acid-responsive element (RARE) less efficiently than RAR alpha and formed multimeric DNA-protein complexes. \"    ///    \"In addition, PLZF-RAR alpha antagonized the function of coexpressed wild-type RAR alpha, an effect relieved by over-expression of RXR. \"    ///    The reciprocal PLZF-RAR alpha and RAR alpha-PLZF fusion proteins were localized to the nucleus both in the presence and absence of ATRA. '), ('4800', 'BCR_ABL1', 't(9;22) / t(1;21)(p36;q22) / t(9;22)  / ', 'BCR', 'ABL1', '22036054', '91', 'adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Cytogenetic analysis showed a karyotype of 46,XX,dup(1)(q21q32),add(5)(q33),t(9;22)(q34;q11.2)[12]/47,idem,+der(22)t(9;22)[8], and BCR/ABL1 rearrangement was detected. '), ('4801', 'RCSD1_ABL1', '', 'RCSD1', 'ABL1', '21435002', '91', 'acute lymphoblastic leukemia;chronic myeloid leukemia;myeloid leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Both fusion genes (SFPQ-ABL1 and RCSD1-ABL1) characterized by a break in intron 4 of ABL1 are associated with B-cell ALL, as the chimeric proteins lacked the SH2 domain of ABL1. '), ('4802', 'ALL1_AF4', 't(4;11)  / ', 'ALL1', 'AF4', '7949140', '91', 'precursor B cell leukemia', 'PCR', '', '', '', '', '', '', '', ' We used the polymerase chain reaction (PCR) to detect ALL1-AF4 rearrangements, the molecular hallmark of t(4;11) in a series of 46 pre-pre-B (CD19+, CD24+, CD10/CD20/cylgM/sIgM-) acute lymphoblastic leukemias (ALL).     ///    \"Moreover, reciprocal der (4)-derived AF4-ALL1 transcripts were observed in 65% of the cases analyzed. \"    ///    Pre-pre-B acute lymphoblastic leukemia: high frequency of alternatively spliced ALL1-AF4 transcripts and absence of minimal residual disease during complete remission..     ///    \"In contrast, only two patients from a group of 67 common (CD19/CD10+, cylgM/sIgM-) and pre-B ALLs (CD19/cylgM+, CD10 +/-, sIgM-) showed ALL1-AF4 mRNA. \"    ///    \"Eight of the 18 pre-pre-B ALL patients with an ALL1-AF4 recombination are currently in complete continuous remission for up to 54 months (median, 26 months). \"    ///    Overall this study documents a similarly high incidence of ALL1-AF4 recombinations in children (infants excluded) and adults with pre-pre-B ALL and demonstrates the decline of the leukemic cell clone below the detection level of PCR in a remarkable proportion of patients under intense treatment protocols.. '), ('4803', 'RARA_PML', '', 'RARA', 'PML', '26595813', '91', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'While loss-of-function mutations in DNMT3A are highly recurrent in acute myeloid leukemia (AML), DNMT3A mutations are almost never found in AML patients with translocations that create oncogenic fusion genes such as PML-RARA, RUNX1-RUNX1T1, and MLL-AF9.     ///    PML-RARA requires DNA methyltransferase 3A to initiate acute promyelocytic leukemia..     ///    \"Together, these findings suggest that PML-RARA requires DNMT3A to initiate APL in mice. \"    ///    \"We used retroviral vectors to express PML-RARA, RUNX1-RUNX1T1, or MLL-AF9 in bone marrow cells derived from WT or DNMT3A-deficient mice. \"'), ('4804', 'FLI_EWS', 't(11;22)  / ', 'FLI', 'EWS', '11556754', '91', 'chondrosarcoma;synovial sarcoma;liposarcoma;ewing sarcoma;rhabdomyosarcoma;neuroectodermal tumor\r\r', '', '', '', '', '', '', '', '', ' The molecular analysis of the t(11;22) rearrangement involving EWS/FLI-1 genes is likely to be of diagnostic value in Ewing sarcoma (ES) and primitive neuroectodermal tumors (PNET). '), ('4805', 'TEL_MN1', 't(12;22)(p13;q11) / t(12;22) / p13;q11.2 / t(12;22)(p13;q11-12) / ', 'TEL', 'MN1', '21965128', '91', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'RT-PCR', '', '', '', '', '', '', '', 'Thus, the AMU-AML1 cell line is useful for studying the biological consequences of t(12;22)(p13;q11.2) lacking chimeric MN1-TEL..     ///    \"Establishment of a novel human myeloid leukemia cell line, AMU-AML1, carrying t(12;22)(p13;q11) without chimeric MN1-TEL and with high expression of MN1.. \"    ///    The chimeric transcript and protein of MN1-TEL could not be detected by reverse-transcriptase polymerase chain reaction or Western blot analysis. '), ('4806', 'MORF_CBP', 't(10;16)(q22;p13) / t(8;16)(p11;p13) / t(11;16)(q23;p13) / ', 'MORF', 'CBP', '11157802', '91', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'We show here that a novel t(10;16)(q22;p13) in a childhood AML M5a leads to a MORF-CBP chimera.     ///    Nested RT-PCR with CBP forward and MORF reverse primers generated a CBP-MORF transcript in which nucleotide 283 of CBP was fused in-frame with nucleotide 3104 of MORF.     ///    \"In the reciprocal CBP-MORF, part of the acidic domain and the C-terminal Ser- and Met-rich regions of MORF are likely to be driven by the CBP promoter. \"    ///    \"The MORF-CBP protein retains the zinc fingers, two nuclear localization signals, the histone acetyltransferase (HAT) domain, a portion of the acidic domain of MORF and the CBP protein downstream of codon 29. \"    ///    RT-PCR using MORF forward and CBP reverse primers amplified a MORF-CBP fusion in which nucleotide 3103 of MORF was fused in-frame with nucleotide 284 of CBP. '), ('4807', 'RUNX1T1_RUNX1', '', 'RUNX1T1', 'RUNX1', '26595813', '91', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'While loss-of-function mutations in DNMT3A are highly recurrent in acute myeloid leukemia (AML), DNMT3A mutations are almost never found in AML patients with translocations that create oncogenic fusion genes such as PML-RARA, RUNX1-RUNX1T1, and MLL-AF9.     ///    \"We used retroviral vectors to express PML-RARA, RUNX1-RUNX1T1, or MLL-AF9 in bone marrow cells derived from WT or DNMT3A-deficient mice. \"'), ('4808', 'TFE3_NONO', 'p11.2;q23 / ', 'TFE3', 'NONO', '12917640', '90', 'anaplastic large cell lymphoma;adenocarcinoma;lymphoma\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', '2 translocations and resulting TFE3 gene fusions (PRCC-TFE3, PSF-TFE3, NONO-TFE3, ASPL-TFE3), encoding related aberrant transcription factors. '), ('4809', 'FUS_ATF1', '', 'FUS', 'ATF1', '17188428', '90', 'fibrous histiocytoma;histiocytoma\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Two of them displayed a FUS-ATF1 fusion gene and one showed an EWSR1-ATF1 chimera.     ///    \"Thus, of the five AFH that have been molecularly analyzed to date, two have displayed a FUS-ATF1 fusion gene and three have shown an EWSR1-ATF1 chimera. \"    ///    \"Thus, of the five AFH that have been molecularly analyzed to date, two have displayed a FUS-ATF1 fusion gene and three have shown an EWSR1-ATF1 chimera.\"'), ('4810', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '19273155', '90', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Strikingly, over a decade ago, PML-NBs were found to be disrupted in acute promyelocytic leukemia (APL) in which PML is fused to the gene encoding retinoic acid receptor alpha (RARA) due to the t(15;17) chromosomal translocation, generating the PML-RARA chimeric protein.     ///    \"The treatment of APL patients with all-transretinoic acid (ATRA) and arsenic trioxide which target the PML-RARA oncoprotein results in clinical remission, associated with blast cell differentiation and reformation of the PML NBs, thus linking NB integrity with disease status. \"'), ('4811', 'CLTC_ALK', 't(2;17)  / ', 'CLTC', 'ALK', '21494621', '90', 'B cell lymphoma', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Most of them feature a t(2;17) encoding a clathrin (CLTC)-ALK fusion protein.     ///    These data indicate a role of CLTC-ALK in the maintenance of the malignant phenotype thereby providing a rationale therapeutic target for these otherwise refractory tumors..     ///    We established and characterized the first CLTC-ALK positive DLBCL cell line (LM1). '), ('4812', 'FUS_DDIT3', 't(12;16)(q13;p11) / ', 'FUS', 'DDIT3', '18596980', '90', 'liposarcoma;sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', ' FUS-DDIT3 is a chimeric protein generated by the most common chromosomal translocation t(12;16)(q13;p11) linked to liposarcomas, which are characterized by the accumulation of early adipocytic precursors.     ///    \"Our results further show that FUS-DDIT3 interferes with the control of initiation of translation by upregulation of the eukaryotic translation initiation factors eIF2 and eIF4E both in FUS-DDIT3 mice and human liposarcomas cell lines, explaining the shift towards the truncated p30 isoform of C/EBPalpha in liposarcomas. \"    ///    FUS-DDIT3 prevents the development of adipocytic precursors in liposarcoma by repressing PPARgamma and C/EBPalpha and activating eIF4E..     ///    \"However, the precise mechanism whereby FUS-DDIT3 contributes to the differentiation arrest remains to be elucidated. \"    ///    Complementation studies with PPARgamma but not C/EBPalpha rescued the differentiation block in committed adipocytic precursors expressing FUS-DDIT3.     ///    Suppression of the FUS-DDIT3 transgene did rescue this adipocyte differentiation block.     ///    \"Consistent with in vivo data, FUS-DDIT3 MEFs and human liposarcoma cell lines showed a similar downregulation of both PPARgamma2 and C/EBPalpha expression. \"    ///    \"Moreover, eIF4E was also strongly upregulated in normal adipose tissue of FUS-DDIT3 transgenic mice, suggesting that overexpression of eIF4E may be a primary event in the initiation of liposarcomas. \"    ///    Reporter assays showed FUS-DDIT3 is involved in the upregulation of eIF4E in liposarcomas and that both domains of the fusion protein are required for affecting eIF4E expression.     ///    \"Taken together, this study provides evidence of the molecular mechanisms involve in the disruption of normal adipocyte differentiation program in liposarcoma harbouring the chimeric gene FUS-DDIT3.. \"'), ('4813', 'PDGFB_COL1A1', 't(17;22) / ', 'PDGFB', 'COL1A1', '11329146', '90', 'dermatofibrosarcoma', 'PCR;RT-PCR', '', 'Oncogene', '', '', '', 'KB', '', 'Recently, the COL1A1-PDGFB chimeric gene resulting from a reciprocal translocation, t(17;22), and/or a supernumerary ring chromosome, r(17;22), has been identified, not only in conventional dermatofibrosarcoma protuberans (DFSP) but also in areas of DFSP with progression to fibrosarcoma (so-called fibrosarcomatous transformation) (FS-DFSP).     ///    \"COL1A1-PDGFB fusion transcripts were detected in four of six SAFs, whereas no such fusion transcripts could be amplified in five deep-seated fibrosarcomas, eight congenital/infantile fibrosarcomas or 28 other spindle-cell tumours and tumour-like lesions. \"    ///    \"To test this hypothesis, a reverse transcription-polymerase chain reaction (RT-PCR) assay was conducted to determine whether COL1A1-PDGFB fusion transcripts could be detected in six cases of SAF, using archival formalin-fixed, paraffin-embedded tissues. \"    ///    Expression of COL1A1-PDGFB fusion transcripts in superficial adult fibrosarcoma suggests a close relationship to dermatofibrosarcoma protuberans.. '), ('4814', 'SYT_SSX1', 'p11.2;q11.2 / ', 'SYT', 'SSX1', '10397263', '90', 'synovial sarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', ' Cytogenetically, synovial sarcoma (SS) is characterized by the translocation t(X;18)(p11.2;q11.2), resulting in a fusion between the SYT gene on chromosome 18 and SSX1 or SSX2 on the X chromosome and the formation of new chimeric genes, SYT-SSX1 or SYT-SSX2.     ///    We examined the potential clinical relevance of SYT-SSX1 and SYT-SSX2 fusion transcripts together with tumor proliferation.     ///    \"The hazard ratio (with respect to metastasis-free survival for patients with SYT-SSX1 versus patients with SYT-SSX2 fusion transcripts was 7.4 (95% confidence interval, 1.5-36. \"    ///    \"One case carrying an atypical transcript with a 57-bp insert was excluded, leaving 13 SYT-SSX1 and 19 SYT-SSX2 cases for analysis. \"    ///    There was a significant association between SYT-SSX1 and a high tumor proliferation rate (P = 0.02).     ///    The SYT-SSX1 variant of synovial sarcoma is associated with a high rate of tumor cell proliferation and poor clinical outcome..     ///    \"There was also an association with reduced overall survival for patients with SYT-SSX1 compared to patients with SYT-SSX2 (hazard ratio, 8.5. \"    ///    The 5-year metastasis-free survival for patients with SYT-SSX1 was 42% versus 89% for patients with SYT-SSX2. '), ('4815', 'NPM_ALK', 'p23;q35 / ', 'NPM', 'ALK', '10741140', '90', 'anaplastic large cell lymphoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'It is now beyond doubt that a significant proportion(64 to 84%) of the cases diagnosed as ALCL is closely associated with the expression of chimeric NPM-ALK protein activated by the (2;5) (p23;q35) chromosomal translocation, which can be detected by anti-p80NPM/ALK or ALK1 antibodies. '), ('4816', 'EWSR1_ATF1', '', 'EWSR1', 'ATF1', '17188428', '90', 'fibrous histiocytoma;histiocytoma\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Two of them displayed a FUS-ATF1 fusion gene and one showed an EWSR1-ATF1 chimera.     ///    \"Using RT-PCR analysis, we have identified the EWSR1-ATF1 fusion transcript, and delineated the genomic breakpoints, in two new cases of AFH. \"    ///    \"Using RT-PCR analysis, we have identified the EWSR1-ATF1 fusion transcript, and delineated the genomic breakpoints, in two new cases of AFH.\"    ///    \"Thus, of the five AFH that have been molecularly analyzed to date, two have displayed a FUS-ATF1 fusion gene and three have shown an EWSR1-ATF1 chimera. \"    ///    \"Previously, the EWSR1-ATF1 fusion protein has been suggested to activate expression of the MITF-M transcript, and therefore the expression pattern of the MITF gene was studied. \"'), ('4817', 'NPM_MLF1', 't(3;5) / ', 'NPM', 'MLF1', '10391679', '90', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', '', '', '', '', '', '', '', '', ' The NPM-MLF1 chimeric protein is produced by the t(3;5)(q25.1;q34) chromosomal translocation, which is associated with myelodysplastic syndrome (MDS) prior to progression into acute myeloid leukemia (AML).     ///    NIH3T3 mouse fibroblasts engineered to overexpress NPM-MLF1 grew normally but serum deprivation triggered apoptotic cell death with slower kinetics than did other well-known apoptotic inducers such as c-Myc or E2F-1.     ///    \"Here we report that K562 human leukemia cells ectopically expressing NPM-MLF1, but not those with wild-type MLF1, were gradually eliminated from the culture by undergoing apoptosis. \"    ///    Analyses using a variety of deletion mutants of NPM-MLF1 revealed that induction of apoptosis required the N-terminal domain of MLF1 and the NPM domain containing nuclear localization signal and that removal of the NPM dimerization domain markedly impaired the ability to induce apoptosis.     ///    \"Quantitative analysis of apoptotic induction confirmed that, neither NPM nor MLF1, but the NPM-MLF1 fusion protein was able to induce apoptosis. \"    ///    Apoptosis induced by the myelodysplastic syndrome-associated NPM-MLF1 chimeric protein.. '), ('4818', 'SYT_SSX2', 'p11.2;q11.2 / ', 'SYT', 'SSX2', '10397263', '90', 'synovial sarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', ' Cytogenetically, synovial sarcoma (SS) is characterized by the translocation t(X;18)(p11.2;q11.2), resulting in a fusion between the SYT gene on chromosome 18 and SSX1 or SSX2 on the X chromosome and the formation of new chimeric genes, SYT-SSX1 or SYT-SSX2.     ///    \"The hazard ratio (with respect to metastasis-free survival for patients with SYT-SSX1 versus patients with SYT-SSX2 fusion transcripts was 7.4 (95% confidence interval, 1.5-36. \"    ///    We examined the potential clinical relevance of SYT-SSX1 and SYT-SSX2 fusion transcripts together with tumor proliferation.     ///    \"One case carrying an atypical transcript with a 57-bp insert was excluded, leaving 13 SYT-SSX1 and 19 SYT-SSX2 cases for analysis. \"    ///    \"There was also an association with reduced overall survival for patients with SYT-SSX1 compared to patients with SYT-SSX2 (hazard ratio, 8.5. \"    ///    The 5-year metastasis-free survival for patients with SYT-SSX1 was 42% versus 89% for patients with SYT-SSX2. '), ('4819', 'TFE3_ASPL', 'p11.2;q23 / ', 'TFE3', 'ASPL', '12917640', '90', '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.     ///    \"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. \"'), ('4820', 'ETO_AML1', 't(8;21)  / t(8;21) / inv(16)  / inv(16) / t(3;21)  / t(12;21)  / ', 'ETO', 'AML1', '9234595', '90', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', '', '', '', '', '', '', '', '', 'In the t(8;21), AML1 is fused to the ETO (MTG8) gene, resulting in a hybrid AML1/ETO mRNA, which in turn is translated into a chimeric protein. '), ('4821', 'MAML2_CRTC1', 't(11;19)  / ', 'MAML2', 'CRTC1', '26503699', '90', 'mucoepidermoid carcinoma\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'The majority of MEC tumors contain a t(11;19) chromosomal translocation that fuses two genes, CRTC1 and MAML2, to generate the chimeric protein CRTC1-MAML2.     ///    \"The majority of MEC tumors contain a t(11;19) chromosomal translocation that fuses two genes, CRTC1 and MAML2, to generate the chimeric protein CRTC1-MAML2.\"    ///    \"CRTC1-MAML2 displays transforming activity in vitro and is required for human MEC cell growth and survival, partially due to its ability to constitutively activate CREB-mediated transcription. \"    ///    Gene expression profiling analysis of CRTC1-MAML2 fusion oncogene-induced transcriptional program in human mucoepidermoid carcinoma cells..     ///    A total of 808 differentially expressed genes were identified in human MEC cells after CRTC1-MAML2 knockdown and a subset of known and novel fusion target genes was confirmed by real-time RT-PCR.     ///    \"However, the molecular mechanisms underlying CRTC1-MAML2 oncogenic action in MEC have not yet been systematically analyzed. \"    ///    \"Consequently, CRTC1-MAML2 is implicated as a major etiologic molecular event and a therapeutic target for MEC. \"    ///    Transcriptional profiling was performed on human MEC cells with the depletion of endogenous CRTC1-MAML2 fusion or its interacting partner CREB via shRNA-mediated gene knockdown.     ///    \"CRTC1-MAML2 displays transforming activity in vitro and is required for human MEC cell growth and survival, partially due to its ability to constitutively activate CREB-mediated transcription.\"'), ('4822', 'NPM_MLF1', 't(3;5) / ', 'NPM', 'MLF1', '11021751', '90', 'refractory anemia with excess of blasts', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' MLF1 is a novel protein identified as the NPM-MLF1 chimeric protein produced by a t(3;5)(q25.1;q34) chromosomal translocation, which is associated with myelodysplastic syndrome (MDS), often prior to acute myeloid leukemia (AML), except for M3. '), ('4823', 'NPM_ALK', 'p23;q35 / ', 'NPM', 'ALK', '17185414', '90', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' Constitutive overexpression and activation of NPM-ALK fusion protein [t(2:5)(p23;q35)] is a key oncogenic event that drives the survival and proliferation of anaplastic large-cell lymphomas (ALCLs).     ///    \"NVP-TAE684 also induced down-regulation of CD30 expression, suggesting that CD30 may be used as a biomarker of therapeutic NPM-ALK kinase activity inhibition.. \"    ///    \"Identification of NVP-TAE684, a potent, selective, and efficacious inhibitor of NPM-ALK.. \"    ///    NVP-TAE684 treatment resulted in a rapid and sustained inhibition of phosphorylation of NPM-ALK and its downstream effectors and subsequent induction of apoptosis and cell cycle arrest. '), ('4824', 'ZNF198_FGFR1', 't(8;13)  / t(8;13) / t(8;13)(p12;q12) / ', 'ZNF198', 'FGFR1', '17852454', '90', 'acute lymphoblastic leukemia;myeloproliferative disorder;lymphoblastic leukemia;non Hodgkin lymphoma\r\r', '', 'Kinase', '', '', '', '', 'KB', '', 'The most commonly observed translocation of this syndrome is t(8;13), which results in the expression of a chimeric ZNF198-FGFR1 tyrosine kinase. '), ('4825', 'RARA_NPM', 't(5;17)  / t(15;17)  / ', 'RARA', 'NPM', '16504291', '90', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'In order to test the hypothesis that delocalization of PML from PODs is necessary for APL, we investigated the interaction of the t(5;17) APL fusion protein NPM-RAR with PML.     ///    The NPM-RAR fusion protein associated with the t(5;17) variant of APL does not interact with PML..     ///    These studies suggest that NPM-RAR does not interact with PML..     ///    \"NPM-RAR does not alter the localization of PML in transfected HeLa cells, and does not associate with PML in vitro. \"    ///    NPM-RAR localizes diffusely throughout the nucleoplasm. '), ('4826', 'TEL_AML1', 't(12;21) / ', 'TEL', 'AML1', '16330447', '90', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The fusion protein TEL-AML1 in t(12;21)+ acute lymphoblastic leukemia (ALL) recruits co-repressors and histone deacetylases (HDAC), which transrepress AML1 target genes. '), ('4827', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '16276527', '90', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The patients leukemic blasts did carry the common t(8;21) which yields an AML1-ETO fusion protein that inhibits AML-1. '), ('4828', 'ETO_AML1', 't(8;21)  / t(8;21) / ', 'ETO', 'AML1', '17197433', '90', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Oridonin, a diterpenoid extracted from medicinal herbs, targets AML1-ETO fusion protein and shows potent antitumor activity with low adverse effects on t(8;21) leukemia in vitro and in vivo..     ///    \"Intriguingly, the t(8;21) product AML1-ETO (AE) fusion protein, which plays a critical role in leukemogenesis, was degraded with generation of a catabolic fragment, while the expression pattern of AE target genes investigated could be reprogrammed. \"');
INSERT INTO `ChimerPub_dump` VALUES ('4829', 'TEL_AML1', '', 'TEL', 'AML1', '21157892', '90', '', '', '', '', '', '', '', '', '', ' The TEL/AML1 fusion gene which represents the most frequent genetic abnormality in childhood ALL, usually results from genomic breakpoints in TEL intron 5 and AML1 intron 1 or 2.     ///    \"This region was supposed to play an important role in TEL/AML1 function, particularly in TEL/AML1-mediated transcriptional repression of AML1 targets. \"    ///    \"By using reporter gene assay, we showed that the loss of the central region does not influence the TEL/AML1-mediated transcriptional repression. \"    ///    The deletion of the central region did not affect the TEL/AML1-specific phenotype.     ///    we did not find any relevant differences in clinical and biological features when variant versus classical TEL/AML1-positive cases were compared.     ///    We aimed at investigating the impact of the loss of this region on disease behavior and TEL/AML1 function.     ///    No distinct differences between variant and classical TEL/AML1 cases were observed including gene expression profiling and detailed immunophenotyping.     ///    \"Thus, our data does not support hypothesis that the central region of TEL is indispensable for TEL/AML1 driven leukemogenesis.. \"    ///    \"We compared clinical and biological characteristics, treatment response, and outcome of the variant versus classical TEL/AML1 cases, analyzed genome wide gene expression profiles and performed reporter gene assay. \"    ///    TEL/AML1-positive patients lacking TEL exon 5 resemble canonical TEL/AML1 cases..     ///    We identified two ALL patients with genomic breakpoints within TEL intron 4 resulting in variant TEL/AML1 fusion lacking the TEL exon 5-coded central region. '), ('4830', 'NPM_ALK', 't(2;5)(p23;q35) / t(2;5) / ', 'NPM', 'ALK', '9187427', '90', 'anaplastic large cell lymphoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'We conclude that the majority of pediatric CD30+ ALCLs show ALK overexpression, consistent with the presence of the t(2;5)-encoded NPM-ALK fusion, but that the clinical significance of this entity remains unproven..     ///    \"A polyclonal antibody against residues of the kinase portion of NPM-ALK (designated anti-ALK 11) was tested for clinical utility in paraffin sections of 44 cases of pediatric large-cell lymphoma (LCL) and 17 additional lymphoma cases, by streptavidin-biotin-alkaline phosphatase method. \"'), ('4831', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '15231665', '90', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The t(8;21) chromosome abnormality in acute myeloid leukemia targets the AML1 and ETO genes to produce the leukemia fusion protein AML1-ETO.     ///    AML1-ETO prevents granulocyte but not macrophage differentiation of murine 32Dcl3 granulocyte/macrophage progenitors.     ///    \"The MYND domain prevented granulocyte but not macrophage differentiation of both 32Dcl3 and human CD34+ cells, recapitulating this effect of AML1-ETO. \"    ///    \"To examine the effect of decreasing interactions between ETO-2 and N-CoR in hematopoietic cells, without effects of AML1-ETO such as direct repression of AML1 target genes, the MYND domain was expressed in 32Dcl3 and human CD34+ cells. \"    ///    We demonstrate that AML1-ETO decreases interactions between ETO-2 and N-CoR.     ///    \"In conclusion, decreasing interactions between ETO-2 and N-CoR, an effect of AML1-ETO, inhibits granulocyte differentiation.. \"    ///    We wished to examine another mechanism by which AML1-ETO might impair granulocyte differentiation.     ///    \"AML1-ETO decreases ETO-2 (MTG16) interactions with nuclear receptor corepressor, an effect that impairs granulocyte differentiation.. \"'), ('4832', 'NPM_ALK', 't(2;5)(p23;q35) / ', 'NPM', 'ALK', '19423729', '90', 'T cell lymphoma;anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Approximately 85% of ALK(+) ALCL cases harbor the translocation t(2;5)(p23;q35), which generates the chimeric oncogene NPM-ALK.     ///    IGF-IR tyrosine kinase interacts with NPM-ALK oncogene to induce survival of T-cell ALK+ anaplastic large-cell lymphoma cells..     ///    Our findings improve current understanding of the biology of IGF-IR and NPM-ALK and have significant therapeutic implications as they identify IGF-IR signaling as a potential therapeutic target in ALK(+) ALCL and possibly other types of malignant lymphoma..     ///    \"Importantly, we identified novel reciprocal functional interactions between IGF-IR and NPM-ALK. \"'), ('4833', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '10601023', '90', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', ' Although retinoic acid receptor alpha (RARalpha) agonists induce the maturation of t(15;17) acute promyelocytic leukemia (APL) cells, drug treatment also selects leukemic blasts expressing PML-RARalpha fusion proteins with mutated ligand-binding domains that no longer respond to all-trans retinoic acid (ATRA). '), ('4834', 'NPM_ALK', 't(2;5)(p23;q35) / ', 'NPM', 'ALK', '11891807', '90', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' The t(2;5)(p23;q35) translocation results in the formation of a unique chimeric NPM-ALK protein (p80).     ///    CD30 and the NPM-ALK fusion protein (p80) are differentially expressed between peripheral blood and bone marrow in primary small cell variant of anaplastic large cell lymphoma.. '), ('4835', 'RUNX1T1_RUNX1', 't(6;9) / t(15;17) / t(8;21) / ', 'RUNX1T1', 'RUNX1', '25568664', '90', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Until now the biology of AML-associated fusion proteins (AAFPs), such as the t(15;17)-PML/RAR?, t(8;21)-RUNX1/RUNX1T1 and t(6;9)-DEK/NUP214, all able to induce AML in mice, was investigated in different models and genetic backgrounds, not directly comparable to each other. '), ('4836', 'RUNX1_DTX2', 't(7;21) / t(7;21)  / ', 'RUNX1', 'DTX2', '22661044', '90', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Acute myeloid leukemia with t(7;21)(q11.2;q22) expresses a novel, reversed-sequence RUNX1-DTX2 chimera.. '), ('4837', 'ETO_AML1', 't(8;21)  / t(8;21) / ', 'ETO', 'AML1', '20691473', '90', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'We show that triptolide triggers cleavage of the resultant AML1-ETO fusion protein of t(8;21), and causes downregulation of C-KIT followed by inhibition of JAK-STAT signaling. '), ('4838', 'TLS_CHOP', 't(12;16)(q13;p11) / ', 'TLS', 'CHOP', '22995304', '90', 'liposarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' Myxoid liposarcomas (MLSs) are characterized by t(12;16)(q13;p11) translocation and expression of TLS-CHOP chimeric oncoprotein.     ///    \"TLS-CHOP represses miR-486 expression, inducing upregulation of a metastasis regulator PAI-1 in human myxoid liposarcoma.. \"    ///    \"Collectively, these results suggest a novel essential molecular mechanism that TLS-CHOP activates PAI-1 expression by repression of miR-486 expression in MLS tumorigenesis and development.. \"    ///    \"However, the molecular functions of TLS-CHOP have not been fully understood. \"'), ('4839', 'EVI1_AML1', 't(3;21)(q26;q22) / ', 'EVI1', 'AML1', '15914564', '90', 'myelodysplastic syndrome;leukemia\r\r', '', '', '', '', '', '', '', '', ' The AML1/EVI1 chimeric gene is created by the t(3;21)(q26;q22) chromosomal translocation seen in patients with leukemic transformation of myelodysplastic syndrome or blastic crisis of chronic myelogenous leukemia.     ///    Dysplastic definitive hematopoiesis in AML1/EVI1 knock-in embryos..     ///    We knocked-in the AML1/EVI1 chimeric gene into mouse Aml1 genomic locus to explore its effect in developmental hematopoiesis in vivo. '), ('4840', 'RUNX1_ETO', 't(8;21) / t(8;21)(q22;q22) / ', 'RUNX1', 'ETO', '22461472', '90', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' In this issue of Blood,Matsuura and colleagues provide evidence that loss of GMCSF signaling promotes leukemic progression in association with one of the most frequently observed cytogenetic abnormalities in AML, the t(8;21)(q22;q22) that generates the RUNX1-ETO fusion protein.. '), ('4841', 'RET_PTC2', 't(10;17)  / inv(10) / t(10;17) / ', 'RET', 'PTC2', '7519046', '90', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Here we report that a chromosomal translocation, t(10;17)(q11.2;q23), juxta-poses the tk domain of the RET protooncogene, which resides on chromosome 10, to a 5\' portion of the RIA gene on chromosome 17, leading to the formation of the chimeric transforming gene RET/PTC2.     ///    A t(10;17) translocation creates the RET/PTC2 chimeric transforming sequence in papillary thyroid carcinoma..     ///    \"The tk domain of proto-RET can be fused either with the D10S170 gene generating the RET/PTC1 transforming sequence or with sequences belonging to the gene encoding the regulatory subunit RIA of c-AMP-dependent protein kinase A, thus forming the RET/PTC2 oncogene. \"    ///    The finding of the transforming protein in primary tumor cell extracts supports the conclusion that RET/PTC2 activation plays a role in papillary thyroid tumorigenesis.. '), ('4842', 'HLF_E2A', 't(17;19) / ', 'HLF', 'E2A', '11417493', '90', 'leukemia\r\r', '', '', 'Oncogene', '', '', '', '', '', 'Expression of two types of E2A-HLF fusion proteins in YCUB-2, a novel cell line established from B-lineage leukemia with t(17;19).. '), ('4843', 'KTS_WT1', 't(11;22)  / t(11;22)(p13;q12) / ', 'KTS', 'WT1', '9591781', '90', 'desmoplastic small round cell tumor', '', '', '', '', '', '', '', '', 'These results indicate the oncogenic effect of the t(11;22) translocation is mediated by the EWS/WT1(-KTS) isoform and that fusion of the EWS amino terminal domain to the WT1 DNA binding domain produces a chimeric product showing a gain of function..     ///    We demonstrate that introduction of EWS/WT1(-KTS) into NIH3T3 cells causes their tumorigenic transformation as determined by: formation of transformed foci on a monolayer of cells. '), ('4844', 'NPM_MLF1', 't(3;5) / ', 'NPM', 'MLF1', '16341033', '90', '', '', '', '', '', '', '', '', '', 'Aberrant subcellular expression of nucleophosmin and NPM-MLF1 fusion protein in acute myeloid leukaemia carrying t(3;5): a comparison with NPMc+ AML.. '), ('4845', 'WT1_EWS', 't(11;22)  / t(11;22)(p13;q12) / ', 'WT1', 'EWS', '9591781', '90', 'desmoplastic small round cell tumor', '', '', '', '', '', '', '', '', 'These results indicate the oncogenic effect of the t(11;22) translocation is mediated by the EWS/WT1(-KTS) isoform and that fusion of the EWS amino terminal domain to the WT1 DNA binding domain produces a chimeric product showing a gain of function.. '), ('4846', 'DEK_CAN', 't(6;9)  / t(6;9) / ', 'DEK', 'CAN', '20827285', '90', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The hallmark of t(6;9) AML is the expression of the DEK/CAN fusion protein.     ///    The t(6;9) associated DEK/CAN fusion protein targets a population of long-term repopulating hematopoietic stem cells for leukemogenic transformation..     ///    We found that DEK/CAN initiated leukemia from a small subpopulation within the hematopoietic stem cell (HSC) population expressing a surface marker pattern of long-term (LT) HSC.     ///    \"This finding indicates that in DEK/CAN-induced leukemia, there is a difference between \'leukemia-initiating cells\' (L-ICs) and \'leukemia-maintaining cells\' (L-MCs). \"    ///    \"The leukemogenic potential of DEK/CAN has been called into question, because it was shown to be unable to block the differentiation of hematopoietic progenitors. \"    ///    \"The propagation of established DEK/CAN-positive leukemia was not restricted to the LT-HSC population, but occurred even from more mature and heterogeneous cell populations. \"'), ('4847', 'TEL_MECOM', 't(3;12)(q26;p13) / ', 'TEL', 'MECOM', '22634393', '90', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', '', '', 'Here we report the identification, development, and characterization of a novel chronic myeloid leukemia cell line carrying the additional chromosomal aberration t(3;12)(q26;p13) resulting in expression of the TEL/MDS1/EVI1 fusion protein, which is resistant to TKIs.     ///    \"In addition, application of EVI1-specific small interfering RNA decreased expression of the TEL/MDS1/EVI1 fusion, reduced resistance to imatinib, and increased sensitivity to ABT-737. \"    ///    \"CML cells expressing the TEL/MDS1/EVI1 fusion are resistant to imatinib-induced apoptosis through inhibition of BAD, but are resensitized with ABT-737.. \"'), ('4848', 'DEK_CAN', 't(6;9) (p23;q34) / t(6;9)  / ', 'DEK', 'CAN', '9028159', '90', 'leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', '[The detection of minimal residual disease by DEK/CAN chimeric m-RNA in a case of AML M2 with translocation t(6;9) (p23;q34) after chemotherapy and peripheral blood stem cell transplantation]..     ///    \"However, minimal residual disease (MRD) detected with DEK/CAN chimeric m-RNA by reverse transcription polymerase chain reaction (RT-PCR) was continuously observed, although decreased quantitatively, following several courses of consolidation and intensification chemotherapies. \"'), ('4849', 'BCR_ABL1', '', 'BCR', 'ABL1', '17452251', '90', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The molecular hallmark of CML is the BCR-ABL fusion gene, usually with specific breakpoints within ABL intron 1 and BCR introns b2, b3, and e19. '), ('4850', 'SMMHC_CBF', 'inv(16)  / ', 'SMMHC', 'CBF', '12172539', '90', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'The translocation inv(16) that disrupts the CBFB gene produces a chimeric protein composed of the heterodimerization domain of CBF beta fused to the C-terminal coiled-coil domain from smooth muscle myosin heavy chain (CBF beta-SMMHC).     ///    This higher affinity provides an explanation for the dominant negative phenotype associated with a knock-in of the CBFB-MYH11 gene and also helps to provide a rationale for the leukemia-associated dysregulation of hematopoietic development that this protein causes..     ///    Altered affinity of CBF beta-SMMHC for Runx1 explains its role in leukemogenesis.. '), ('4851', 'TAL1_SIL', '', 'TAL1', 'SIL', '20704789', '90', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'The fusion gene detection in 5 cases showed MLL rearrangements in two cases and positive SIL/TAL1 fusion gene in one case. '), ('4852', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '11607817', '90', '', '', '', '', '', '', '', '', '', 'AML1 and the AML1-ETO fusion protein in the pathogenesis of t(8;21) AML.. '), ('4853', 'NPM_ALK', 't(2;5)(p23;q35) / ', 'NPM', 'ALK', '26476082', '90', 'T cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The expression of NPM-ALK chimeric oncogene results from the chromosomal translocation t(2;5)(p23;q35) that causes the fusion of the ALK and NPM genes.     ///    \"In addition, NPM-ALK is structurally associated with wild-type NPM to form NPM/NPM-ALK heterodimers, which can translocate to the nucleus. \"    ///    This translocation generates the NPM-ALK protein tyrosine kinase that forms the constitutively activated NPM-ALK/NPM-ALK homodimers.     ///    \"Herein, we found that the SUMOylation pathway is deregulated in NPM-ALK(+) T-cell lymphoma cell lines and primary lymphoma tumors from patients. \"    ///    \"One possible mechanism for the SENP1-mediated decrease in NPM-ALK levels was the increase in NPM-ALK association with ubiquitin, which facilitates its degradation. \"    ///    Our findings propose a model in which aberrancies in SUMOylation contribute to the pathogenesis of NPM-ALK(+) T-cell lymphoma.     ///     Nucleophosmin-anaplastic lymphoma kinase-expressing (NPM-ALK(+)) T-cell lymphoma is an aggressive form of cancer that commonly affects children and adolescents.     ///    We also identified Lys(24) and Lys(32) within the NPM domain as the sites where NPM-ALK conjugates with SUMO-1 and SUMO-3.     ///    The mechanisms that sustain the stability of NPM-ALK are not fully understood.     ///    SUMOylation Confers Posttranslational Stability on NPM-ALK Oncogenic Protein..     ///    \"Importantly, antagonizing SUMOylation by the SENP1 protease decreased the accumulation of NPM-ALK and suppressed lymphoma cell viability, proliferation, and anchorage-independent colony formation. \"'), ('4854', 'PBX1_E2A', 't(1;19)  / t(1;19) / ', 'PBX1', 'E2A', '8183558', '89', 'leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', ' The t(1;19) chromosomal translocation is observed in pre-B cell acute lymphoblastic leukemias and results in expression of chimeric E2A-PBX1 proteins that contain transcriptional activation domains from E2A and the homeodomain of PBX1.     ///    \"Since homeodomains mediate DNA-binding, a potential model for the action of E2A-PBX1 is that it disrupts the transcriptional regulation of genes normally controlled by PBX1 or its closely-related family members PBX2 or PBX3. \"'), ('4855', 'PAX3_FKHR', 't(2;13)  / ', 'PAX3', 'FKHR', '16964289', '89', 'alveolar rhabdomyosarcoma;muscle cancer', '', '', '', '', '', '', '', '', ' Alveolar rhabdomyosarcoma (aRMS), an aggressive skeletal muscle cancer, carries a unique t(2;13) chromosomal translocation resulting in the formation of a chimeric transcription factor PAX3-FKHR.     ///    Identification of a new class of PAX3-FKHR target promoters: a role of the Pax3 paired box DNA binding domain..     ///    \"Here, we identify myogenin gene as a direct target of PD-dependent PAX3-FKHR activation pathway in vitro and in vivo. \"    ///    \"We demonstrate that PAX3-FKHR could induce myogenin expression in undifferentiated myoblasts by a MyoD independent pathway, and that PAX3-FKHR is directly involved in myogenin expression in aRMS cells.. \"    ///    Domain swapping studies suggest that an increased structural flexibility could account for the relaxed DNA targeting specificity in PAX3-FKHR.     ///    \"Cells expressing Pax3 and PAX3-FKHR show vastly different gene expression patterns, despite that they share the same DNA-binding domains. \"'), ('4856', 'WT1_EWS', 't(11;22)(p13;q12) / ', 'WT1', 'EWS', '18523561', '89', 'desmoplastic small round cell tumor \r\r', '', '', '', '', '', '', '', '', 'A defining characteristic of DSRCT is a specific chromosomal translocation, t(11;22)(p13;q12), that fuses EWS with WT1, leading to a production of two isoforms of chimeric transcription factor, EWS/WT1(-KTS) and EWS/WT1(+KTS). '), ('4857', 'PAX3_FKHR', 't(2;13) / ', 'PAX3', 'FKHR', '17525748', '89', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' The chromosomal translocation t(2;13), characteristic for the aggressive childhood cancer alveolar rhabdomyosarcoma (aRMS), generates the chimeric transcription factor PAX3/FKHR with a well known oncogenic role.     ///    \"Hence, we developed a pathophysiologically relevant transcriptional profile of PAX3/FKHR and identified a critical target gene for aRMS development.. \"    ///    \"Importantly, TFAP2B was validated as direct target gene mediating the anti-apoptotic function of PAX3/FKHR. \"    ///    Comparative expression profiling identifies an in vivo target gene signature with TFAP2B as a mediator of the survival function of PAX3/FKHR..     ///    We also found repression of skeletal muscle-specific genes suggesting that PAX3/FKHR blocks further differentiation of aRMS cells.     ///    \"Here, we used comparative expression profiling of PAX3/FKHR silencing in vitro and PAX3/FKHR-specific gene signatures in vivo to identify physiologically important target genes. \"'), ('4858', 'IGH_BCL2', 't(14;18)  / ', 'IGH', 'BCL2', '18665753', '89', 'follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Bcl-2/IgH gene rearrangement is detected in 80-90% of follicular lymphomas in Western countries.     ///    \"This is the first analyses of the frequency of the bcl-2/IgH gene rearrangement in Serbian FL patients, as well as in Eastern European countries. \"    ///    There was no correlation between presence of bcl-2/IgH gene rearrangement and clinical outcome of disease.     ///    \"Incidence of bcl-2/IgH gene rearrangement in Serbian FL patients is relatively high, and similar to frequency in Western countries. \"    ///    Molecular characteristics and prognostic significance of Bcl-2/IgH gene rearrangement in Serbian follicular lymphoma patients..     ///    \"The aim of this study was to analyze the bcl-2/IgH rearrangement in FL lymphoma patients in Serbia, by PCR technique, correlate molecular findings with clinical characteristics and outcome and assess the prognostic significance of these rearrangements. \"    ///    \"The distribution of bcl-2-IgH rearrangement was as follows: 88,5% (77/87) in MBR breakpoint, 10,35% (9/87) in 5\' MBR, whereas mcr bcl-2-IgH rearrangement was observed in one patient (1.15%). \"    ///    \"Bcl-2/IgH rearrangement was assessed for the major breakpoint region (MBR), 5\' MBR and the minor cluster region (mcr) breakpoints by PCR technique. \"'), ('4859', 'PBX1_E2A', 't(1;19)  / ', 'PBX1', 'E2A', '10471746', '89', 'leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', ' The t(1;19) chromosomal translocation of pediatric pre-B cell leukemia produces chimeric oncoprotein E2a-Pbx1, which contains the N-terminal transactivation domain of the basic helix-loop-helix (bHLH) transcription factor, E2a, joined to the majority of the homeodomain protein, Pbx1. '), ('4860', 'PAX3_FOXO1', 't(2;13)  / ', 'PAX3', 'FOXO1', '18414034', '89', 'rhabdomyosarcoma;sarcoma\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'The t(2;13) translocation is characteristic of the pediatric muscle tumor, alveolar rhabdomyosarcoma, and produces the chimeric transcription factor, PAX3-FOXO1, that contains the DNA binding elements of PAX3 and the transcriptional activation domain of FOXO1.     ///    Guilt by association: PAX3-FOXO1 regulates gene expression through selective destabilization of the EGR1 transcription factor..     ///    Experiments designed to determine how PAX3-FOXO1 expression contributes to the development of muscle cell-derived tumors resulted in the discovery that the fusion protein misregulates gene expression and interrupts myogenic differentiation through a unique gain of function mechanism. '), ('4861', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '21302907', '89', 'leukemia;hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The FIP1L1-PDGFRA (F/P) fusion gene, which was identified as a recurrent molecular finding in hypereosinophilic syndrome (HES), lead to a constitutively increased tyrosine kinase activity of the fusion protein. '), ('4862', 'RARA_NPM', 't(5;17)  / ', 'RARA', 'NPM', '10753851', '89', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'The t(5;17) acute promyelocytic leukemia fusion protein NPM-RAR interacts with co-repressor and co-activator proteins and exhibits both positive and negative transcriptional properties..     ///    \"In addition, NPM-RAR decreases basal transcription from some promoters and acts in a dominant-negative fashion when co-transfected with wild-type RARalpha. \"    ///    Two NPM-RAR molecules are expressed as a result of alternative RNA splicing.     ///    Both NPM-RAR and PML-RAR interact with the co-repressor protein SMRTe in a manner that is less sensitive than RARalpha to dissociation by retinoic acid.     ///    \"The level of transactivation induced by the NPM-RAR fusions differs from the level of transactivation induced by wild-type RARalpha in both a promoter and cell specific fashion, and more closely parallels the pattern of activation of the PML-RAR fusion than wild-type RARalpha. \"    ///    \"These data indicate that the NPM-RAR fusion proteins can modulate expression of retinoid-responsive genes in a positive or negative manner, depending on context of the promoter, and lend support to the hypothesis that aberrant transcriptional activation underlies the APL phenotype. \"    ///    The NPM-RAR fusion proteins bind to retinoic acid response element sequences as either homodimers or as heterodimers with RXR. '), ('4863', 'RUNX1_EBP', 't(4;21)  / ', 'RUNX1', 'EBP', '16858696', '89', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The t(4;21) created a hybrid RUNX1-EBP protein retaining RUNX1\'s DNA binding domain, which may result in nuclear localization of the chimeric protein and inhibition of EBP\'s RAS-suppressive functions. '), ('4864', 'MALT1_API2', 't(11;18)  / ', 'MALT1', 'API2', '14631809', '89', 'MALT lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'The characteristic translocation t(11;18) and its chimeric transcript API2-MALT1 with antiapoptotic function is emphasised.. '), ('4865', 'PAX7_FKHR', 't(2;13)  / t(1;13)  / ', 'PAX7', 'FKHR', '10439042', '89', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' The t(2;13) and t(1;13) translocations of alveolar rhabdomyosarcoma (ARMS) result in chimeric PAX3-FKHR or PAX7-FKHR transcription factors, respectively.     ///    \"Deletion analysis showed that the transactivation domains of PAX7 and PAX7-FKHR are each more potent than either full-length protein, and resistance to cis-repression is responsible for the PAX7-FKHR gain of function. \"    ///    \"Using PAX-specific DNA-binding sites, we found that PAX7 was virtually inactive, while PAX7-FKHR exhibited activity 600-fold above background and was comparable to PAX3-FKHR. \"    ///    Here we test the hypothesis that the cis-acting repression domain is a conserved feature of PAX3 and PAX7 and that PAX7-FKHR gains function similarly. '), ('4866', 'PAX3_FKHR', 't(2;13)  / t(1;13)  / ', 'PAX3', 'FKHR', '10439042', '89', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' The t(2;13) and t(1;13) translocations of alveolar rhabdomyosarcoma (ARMS) result in chimeric PAX3-FKHR or PAX7-FKHR transcription factors, respectively.     ///    \"Using PAX-specific DNA-binding sites, we found that PAX7 was virtually inactive, while PAX7-FKHR exhibited activity 600-fold above background and was comparable to PAX3-FKHR. \"    ///    Previously we demonstrated that PAX3-FKHR is more potent than PAX3 because the FKHR transactivation domain is resistant to repression mediated by the PAX3 N-terminus. '), ('4867', 'EAP_AML1', 't(8;21)  / t(3;21) / ', 'EAP', 'AML1', '8164679', '89', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'These results suggest that previously described chimeric gene products, AML1/MTG8(ETO) and AML1-EAP generated by t(8;21) and t(3;21), respectively, lack the transactivation domain of AML1.. '), ('4868', 'FUS_ERG', 't(16;21)(p11;q22) / t(16;21)  / t(16;21) / ', 'FUS', 'ERG', '27183148', '89', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'The t(16;21) results in the TLS(FUS)-ERG fusion protein, which is believed to function as a transcriptional activator in leukemogenesis and has been demonstrated to interfere in normal pre-mRNA splicing functions of FUS/TLS. '), ('4869', 'PBX1_E2A', 't(1;19)  / ', 'PBX1', 'E2A', '23044487', '89', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', ' The t(1;19) translocation in pediatric pre-B-cell acute lymphoblastic leukemia (ALL) fuses the genes, which encode the transcriptional activator E2A and homeobox pre-B-cell leukemia transcription factor 1 (PBX1), resulting in expression of the chimeric transcription factor E2A-PBX1. '), ('4870', 'HIF_E2A', 't(17;19)  / t(17;19) / ', 'HIF', 'E2A', '8065331', '89', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The t(17;19) translocation in acute lymphoblastic leukemias results in creation of E2A-hepatic leukemia factor (HLF) chimeric proteins that contain the DNA-binding and protein dimerization domains of the basic leucine zipper (bZIP) protein HLF fused to a portion of E2A proteins with transcriptional activation properties.     ///    DNA-binding and transcriptional regulatory properties of hepatic leukemia factor (HLF) and the t(17;19) acute lymphoblastic leukemia chimera E2A-HLF..     ///    An in vitro binding site selection procedure was used to determine DNA sequences preferentially bound by wild-type HLF and chimeric E2A-HLF proteins isolated from various t(17;19)-bearing leukemias.     ///    \"But on reporter genes with nonoptimal binding sites, their transcriptional properties diverged and E2A-HLF competitively inhibited activation by wild-type PAR proteins. \"    ///    These findings establish a spectrum of binding site-specific transcriptional properties for E2A-HLF which may preferentially activate expression of select subordinate genes as a homodimer and potentially antagonize expression of others through heteromeric interactions..     ///    \"however, E2A-HLF proteins were significantly less tolerant of certain deviations from the HLF consensus binding site. \"    ///    These differences were directly attributable to loss of an HLF ancillary DNA-binding domain in all E2A-HLF chimeras and were further exacerbated by a zipper mutation in one isolate. '), ('4871', 'KTS_WT1', 't(11;22)(p13;q12) / ', 'KTS', 'WT1', '18523561', '89', 'desmoplastic small round cell tumor \r\r', '', '', '', '', '', '', '', '', 'A defining characteristic of DSRCT is a specific chromosomal translocation, t(11;22)(p13;q12), that fuses EWS with WT1, leading to a production of two isoforms of chimeric transcription factor, EWS/WT1(-KTS) and EWS/WT1(+KTS). '), ('4872', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '12773394', '89', '', '', '', '', '', '', '', '', '', 'In t(8;21) leukaemic cells expressing the aberrant fusion protein AML1-ETO, we demonstrate that this protein is part of a transcription factor complex binding to extended sequences of the c-FMS intronic regulatory region rather than the promoter.     ///    \"The AML1-ETO complex does not disrupt binding of other transcription factors, indicating that c-FMS is not irreversibly epigenetically silenced. \"    ///    \"However, AML1-ETO binding correlates with changes in the histone modification pattern and increased association of histone deacetylases. \"    ///    Epigenetic consequences of AML1-ETO action at the human c-FMS locus.. '), ('4873', 'EML4_ALK', '', 'EML4', 'ALK', '20483705', '89', 'chronic myeloid leukemia;myeloid leukemia;leukemia;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The fusion proteins from the ALK gene have been identified in oncohaematology malignancies including ALK positive anaplastic lymphoma large cell and non small cells lung cancer with EML4-ALK fusion gene. '), ('4874', 'FLI_EWS', 't(11;22)(q24;q12) / ', 'FLI', 'EWS', '12556973', '89', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' Ewing\'s sarcoma is a childhood bone tumour with poor prognosis, most commonly associated with a t(11;22)(q24;q12) reciprocal translocation that fuses the EWS and FLI-1 genes, resulting in the production of an aberrant chimeric transcription factor EWS/FLI-1.     ///    Transformation induced by Ewing\'s sarcoma associated EWS/FLI-1 is suppressed by KRAB/FLI-1..     ///    The inhibition of EWS/FLI-1 is the first demonstration of the KRAB domain suppressing the action of an ETS factor.     ///    This approach provides potential avenues for the elucidation of the biological mechanisms of EWS/FLI-1 oncogenesis and the development of novel therapeutic strategies..     ///    \"To elucidate the mechanisms by which EWS/FLI-1 mediates transformation in mouse models, we have generated a murine Ews/Fli-1 fusion protein. \"'), ('4875', 'FLI_EWS', 't(12;21)  / ', 'FLI', 'EWS', '20362478', '89', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Here, we provide evidence that FUS/TLS, EWSR1, and the Ewing\'s sarcoma t(12;21) fusion protein EWS-FLI bind Runx2 and alter its transcriptional activity. '), ('4876', 'RARA_PL', 't(15;17)  / ', 'RARA', 'PL', '16140954', '89', 'acute promyelocytic leukemia;leukemia;retinoblastoma\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', ' All-trans retinoic acid (ATRA) induces clinical remission in patients with t(15;17) acute promyelocytic leukemia (APL) carrying leukemogenic promyelocytic leukemia-retinoic acid receptor alpha (PML-RARalpha) fusion protein by overcoming PML-RARalpha transcriptional repression and inducing myeloid differentiation. '), ('4877', 'MECOM_AML1', '', 'MECOM', 'AML1', '12082639', '88', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', '', '', 'Oncogene', '', '', '', '', '', ' The leukemia-associated fusion gene AML1/MDS1/EVI1 (AME) encodes a chimeric transcription factor that results from the (3;21)(q26;q22) translocation.     ///    The leukemia-associated transcription repressor AML1/MDS1/EVI1 requires CtBP to induce abnormal growth and differentiation of murine hematopoietic cells.. '), ('4878', 'CD19_CD11B', 't(8;21)(q22;q22) / t(8;21) / ', 'CD19', 'CD11B', '9401077', '88', 'myelodysplastic syndrome\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'It is also noteworthy that the cell-surface antigen expression pattern of the bone marrow (BM) blasts was changed from CD7+ CD2+ CD13+ CD33+ CD19- CD11b+ CD14+ CD36+ to CD7- CD2- CD13+ CD19+ CD11b- CD14- CD33+ CD34+ CD36- CD56+ during leukaemic progression, and the pattern in leukaemic phase was similar to the characteristic phenotype of de novo AML cases with t(8;21), when the AML1/MTG8 fusion transcripts are always detected by RT-PCR.. '), ('4879', 'ETO_AML1', 't(8;21)  / t(8;21) / ', 'ETO', 'AML1', '19001502', '88', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The leukemogenic t(8;21) fusion protein AML1-ETO controls rRNA genes and associates with nucleolar-organizing regions at mitotic chromosomes..     ///    The t(8;21)-related AML1-ETO fusion protein blocks differentiation of myeloid progenitors.     ///    \"Taken together, our findings identify a novel role for the leukemia-related AML1-ETO protein in epigenetic control of cell growth through upregulation of ribosomal gene transcription mediated by RNA Pol I, consistent with the hyper-proliferative phenotype of myeloid cells in AML patients.. \"    ///    \"Both RUNX1/AML1 and AML1-ETO occupy ribosomal DNA repeats during interphase, as well as interact with the endogenous RNA Pol I transcription factor UBF1. \"    ///    \"Downregulation by RNA interference reveals that RUNX1/AML1 negatively regulates rDNA transcription, whereas AML1-ETO is a positive regulator in Kasumi-1 cells. \"    ///    Promoter cytosine methylation analysis indicates that RUNX1/AML1 binds to rDNA repeats that are more highly CpG methylated than those bound by AML1-ETO.     ///    \"At mitosis, we clearly detect binding of AML1-ETO to nucleolar-organizing regions in AML-derived Kasumi-1 cells and binding of RUNX1/AML1 to the same regions in Jurkat cells. \"    ///    \"Here, we show by immunofluorescence microscopy that during interphase, endogenous AML1-ETO localizes to nuclear microenvironments distinct from those containing native RUNX1/AML1 protein. \"'), ('4880', 'RUNX1_MTG8', 't(8;21)  / ', 'RUNX1', 'MTG8', '15988004', '88', 'neurofibroma', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Moreover, the t(8;21) fusion protein RUNX1-MTG8 (R/M), which represses RUNX1-regulated genes, actively repressed the NF1 promoter. '), ('4881', 'EVI1_ETV6', 't(3;3)(q21;q26) / t(3;21)  / t(3;12) / t(3;3) / ', 'EVI1', 'ETV6', '9307271', '88', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'All fusions splice the 5\' ends of the 3q21 genes into exon 2 of the EVI1 gene, an event that is similar to the normal intergenic splicing of MDS1-EVI1 and to those previously documented in leukemias with t(3;21) and t(3;12), in which acute myelogenous leukemia 1-EVI1 fusions and ETV6-EVI1 fusions, respectively, occur. '), ('4882', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '17996649', '88', 'myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Analysis of patient\'s primary leukemia blasts revealed that those carrying the t(8;21) generating AML1/ETO, the most common acute myeloid leukemia-associated fusion protein, display low levels of a microRNA-223 (miR-223), a regulator of myelopoiesis.     ///    \"Here, we show that miR-223 is a direct transcriptional target of AML1/ETO. \"    ///    \"By recruiting chromatin remodeling enzymes at an AML1-binding site on the pre-miR-223 gene, AML1/ETO induces heterochromatic silencing of miR-223. \"    ///    \"Ectopic miR-223 expression, RNAi against AML1/ETO, or demethylating treatment enhances miR-223 levels and restores cell differentiation. \"    ///    Epigenetic silencing of the myelopoiesis regulator microRNA-223 by the AML1/ETO oncoprotein.. '), ('4883', 'MECOM_AML1', 't(3;21)(q26;q22) / ', 'MECOM', 'AML1', '17575132', '88', 'leukemia\r\r', '', '', 'Oncogene', '', '', '', '', '', 'Recently, we reported that the fusion protein AML1/MDS1/EVI1 (AME), a product of a t(3;21)(q26;q22) associated with chronic myelogenous leukemia and acute myelogenous leukemia, displays a complex pattern of self-interaction. '), ('4884', 'RPN1_EVI1', 't(3;3)(q21;q26) / t(3;21)  / t(3;12) / t(3;3) / ', 'RPN1', 'EVI1', '9307271', '88', 'leukemia\r\r', '', '', '', '', '', '', 'KB', '', 'The Ribophorin I-EVI1 fusion in particular may be a common occurrence in t(3;3).. '), ('4885', 'MLL_FOXO4', 't(4;11)  / t(6;11) / t(8;11) / t(7;8;11) / t(9;11)  / ', 'MLL', 'FOXO4', '16383239', '87', '', 'FISH;PCR;RT-PCR ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', '', '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. '), ('4886', 'MLL_AF10', 't(4;11)  / t(6;11) / t(8;11) / t(7;8;11) / t(9;11)  / ', 'MLL', 'AF10', '16383239', '87', '', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', '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. '), ('4887', 'MLLT3_MLL', 't(9;11)  / t(9;11)(p22;q23) / t(11;19)  / t(4;11)  / ', 'MLLT3', 'MLL', '8414510', '87', 'leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', '', '', 'Seq', 'As previously found in t(11;19) leukemia, heterogeneous MLL-MLLT3 chimeric mRNAs could be detected by the reverse transcriptase-polymerase chain reaction (RT-PCR) in t(9;11) leukemia samples.. '), ('4888', 'ETO_AML1', 't(8;21) / t(8;21)  / ', 'ETO', 'AML1', '7522291', '87', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In two of the four cases, an AML1/ETO chimeric fragment was detected by reverse transcription and polymerase chain reaction (RT-PCR), and its sequence was found to be identical to that from patients with a cytogenetically proved t(8;21).     ///    Correlation between cell morphology and expression of the AML1/ETO chimeric transcript in patients with acute myeloid leukemia without the t(8;21).. '), ('4889', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '16681423', '87', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'To assess the sensitivity of PRAME for monitoring MRD, PRAME-positive t(8;21) AML samples with detectable AML1/ETO expression by conventional RT-PCR (n=17) were assessed for quantitative expression of AML1/ETO and PRAME. '), ('4890', 'C8orf13_BLK', '8p23.1 / ', 'C8orf13', 'BLK', '19796918', '87', 'systemic sclerosis', '', 'Kinase', '', '', '', '', '', '', 'The current report sought to determine if polymorphisms in the C8orf13-BLK region (chromosome 8p23.1-B lymphoid tyrosine kinase), which is associated with SLE, are associated also with SSc.     ///    Two variants in the C8orf13-BLK region (rs13277113 & rs2736340) were tested for association with 1050 SSc cases and 694 controls of North Americans of European descent and replicated in a second series 589 SSc cases and 722 controls from Spain.     ///    Association of the C8orf13-BLK region with systemic sclerosis in North-American and European populations..     ///    \"We identify and replicate the association of the C8orf13-BLK region as a novel susceptibility factor for SSc, placing it in the category of common autoimmune disease susceptibility genes.. \"'), ('4891', 'NPM_ALK', 't(2;5) / ', 'NPM', 'ALK', '10980638', '87', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'This pattern, never observed in normal lymphocytes, corresponds to the presence of the product of the hybrid gene NPM/ALK produced by t(2;5). '), ('4892', 'ETV6_AML1', 't(12;21)  / t(12;21)(p13;q22) / t(12;21) / ', 'ETV6', 'AML1', '9839313', '87', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The t(12;21) is virtually undetectable by routine cytogenetics, but the chimeric transcript ETV6-AML1 has been detected in childhood ALL by molecular techniques in up to 36% of cases, making it the most common genetic abnormality in these patients.     ///    \"ETV6-AML1 expression defined a subgroup of patients characterised by an age of between two and 12 years, B-lineage immunophenotype and non-hyperdiploid DNA content. \"'), ('4893', 'PAX3_FKHR', 't(2;13)  / ', 'PAX3', 'FKHR', '10734141', '87', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Previously, we have shown that this requirement is lost in PAX3-FKHR, the product of a t(2;13) chromosomal translocation associated with alveolar rhabdomyosarcoma.     ///    \"Furthermore, we could abolish the homeodomain-dependent transcription and transforming activities of PAX3-FKHR by replacing its FKHR transactivation domain with Pax3 transactivation domain. \"    ///    \"In contrast to Pax3, the chimeric PAX3-FKHR, which acts as an oncogene, can efficiently activate a DNA sequence element containing only a homeodomain binding site (TAATAN(2-3)ATTA), despite the presence of an intact Pax3 paired domain. \"'), ('4894', 'OTT_MAL', 't(1;22)(p13;q13) / ', 'OTT', 'MAL', '19287095', '87', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'We generated a knockin mouse model of the one twenty-two-megakaryocytic acute leukemia (OTT-MAL) fusion oncogene that results from the t(1;22)(p13;q13) translocation specifically associated with a subtype of pediatric AMKL.     ///    The OTT-MAL fusion oncogene activates RBPJ-mediated transcription and induces acute megakaryoblastic leukemia in a knockin mouse model..     ///    We report here that OTT-MAL expression deregulated transcriptional activity of the canonical Notch signaling pathway transcription factor recombination signal binding protein for immunoglobulin kappa J region (RBPJ) and caused abnormal fetal megakaryopoiesis.     ///    \"Furthermore, cooperation between OTT-MAL and an activating mutation of the thrombopoietin receptor myeloproliferative leukemia virus oncogene (MPL) efficiently induced a short-latency AMKL that recapitulated all the features of human AMKL, including megakaryoblast hyperproliferation and maturation block, thrombocytopenia, organomegaly, and extensive fibrosis. \"'), ('4895', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '22008070', '87', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The chromosomal translocation t(8;21) often found in acute myeloid leukemia generates an oncogenic fusion protein AML1-ETO.     ///    Generation of monoclonal antibodies to the AML1-ETO fusion protein: strategies for overcoming high homology..     ///    This strategy has been validated with the oncogenic fusion protein AML1-ETO involved in acute myeloid leukemia..     ///    Monoclonal antibodies that can capture and detect the AML1-ETO fusion protein would help with early diagnosis and treatment prognosis of acute myeloid leukemia.     ///    These MAbs bound specifically to a recombinant form of AML1-ETO fusion protein expressed in HEK and to an endogenous AML1-ETO form of the fusion protein expressed in Kasumi-1.     ///    This included a process to select antibodies for their ability to also recognize the translocated chromosomal AML1-ETO fusion protein and to identify complementary capture/detector antibody pairs. '), ('4896', 'FLI_EWS', '', 'FLI', 'EWS', '10980604', '86', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' The EWS/FLI-1 fusion gene is characteristic of most cases of Ewing\'s sarcoma and has been shown to be crucial for tumor transformation and cell growth.     ///    \"Experiments using specific cell cycle blockers (thymidine and colcemide) suggest that EWS/FLI-1 is directly linked to bFGF stimulation, and not indirectly to cell proliferation. \"    ///    A link between basic fibroblast growth factor (bFGF) and EWS/FLI-1 in Ewing\'s sarcoma cells..     ///    \"In this study we demonstrate a drastic down-regulation of the EWS/FLI-1 protein, and a growth arrest, following serum depletion of Ewing\'s sarcoma cells. \"    ///    \"Taken together, our data suggest that expression of FGFR is a common feature of Ewing\'s sarcoma and, in particular, that the bFGF pathway may be important for the maintenance of a malignant phenotype of Ewing\'s sarcoma cells through up-regulating the EWS/FLI-1 protein. \"    ///    \"In fact, upon treatment of serum-depleted cells with bFGF, expression of the EWS/FLI-1 protein and growth of the Ewing\'s sarcoma cells were restored. \"    ///    \"In addition, a bFGF-neutralizing antibody, which was confirmed to inhibit FGF receptor (FGFR) phosphorylation, caused down-regulation of EWS/FLI-1. \"'), ('4897', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '19494719', '86', 'prostate cancer\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', 'Seq', ' The recently identified TMPRSS2: ERG fusion gene is a candidate oncogene for prostate cancer (PCa).     ///    \"The presence of TMPRSS2:ERG transcripts and the levels of ERG RNA, measured by quantitative Real Time-PCR, did not correlate significantly with clinical and pathologic characteristics of the tumors. \"    ///    The lower proportion of patients expressing TMPRSS2: ERG in group B suggests that androgen ablation inhibits the expression of TMPRSS2:ERG.     ///    \"Histochemical analysis showed that ERG expression is limited to tumor cells, and in group A patients (but not in group B patients) it is limited to those glands that express TMPRSS2:ERG. \"'), ('4898', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '25913390', '86', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'An improved understanding of the genetic basis of prostate carcinogenesis has produced an increasing number of potential prognostic and predictive tools, such as transmembrane protease, serine2:v-ets avian erythroblastosis virus E26 oncogene homolog (TMPRSS2:ERG) gene fusion status, loss of the phosphatase and tensin homolog (PTEN) gene, and gene expression signatures utilizing messenger RNA from tumor tissue. '), ('4899', 'IG_CTLA4', '', 'IG', 'CTLA4', '26605013', '86', '', 'PCR', '', '', '', '', '', '', '', 'Construction of CTLA-4-Ig Fusion Gene in pBudCE4.1 Expression Vector.. '), ('4900', 'STAT6_NAB2', '', 'STAT6', 'NAB2', '26514459', '86', 'hemangiopericytoma', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Presence of the NAB2-STAT6 fusion gene was inferred by immunohistochemical staining for STAT6. '), ('4901', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '24739220', '86', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Transmembrane protease, serine 2 and v-ets erythroblastosis virus E26 homolog (TMPRSS2-ERG) gene fusions are the common molecular signature of prostate cancer.     ///    Androgen receptor and gene network: Micromechanics reassemble the signaling machinery of TMPRSS2-ERG positive prostate cancer cells..     ///    6) TMPRSS2-ERG encoded protein targeting. '), ('4902', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '20371394', '86', 'hypereosinophilic syndrome', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Current treatment of patients with HESs, who lack the FIP-1-like 1-platelet-derived growth factor receptor alpha (FIP1L1-PDGFRA) fusion gene, is mainly systemic corticosteroid therapy. '), ('4903', 'IL3_CSF2', '', 'IL3', 'CSF2', '11059271', '86', '', '', '', '', '', '', '', '', '', ' A human granulocyte-macrophage colony stimulating factor (GM-CSF)/interleukin-3(IL-3) fusion gene with a short linker between the GM-CSF and IL-3 gene has been successfully constructed and expressed in E. '), ('4904', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '7658715', '86', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Although the mechanism of its effectiveness upon APL remains unclear, the PML-retinoic acid receptor alpha (RARA) chimeric protein produced by t(15;17) is assumed to underlie the sensitivity of APL cells to ATRA.     ///    These data indicated that isoforms of PML-RARA fused transcripts affect neither the clinical features of APL nor the prognosis after treatment with ATRA..     ///    Isoforms of PML-retinoic acid receptor alpha fused transcripts affect neither clinical features of acute promyelocytic leukemia nor prognosis after treatment with all-trans retinoic acid.     ///    There are two major isoforms of PML-RARA transcripts. '), ('4905', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '17848188', '86', 'gastrointestinal diseases;HTLV infection', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Recent advances in underlying pathogenesis have established that hypereosinophilia may be due either to primitive involvement of myeloid cells, essentially due to occurrence of an interstitial chromosomal deletion on 4q12 leading to creation of the FIP1L1-PDGFRA fusion gene (F/P+ variant), or to increased interleukin (IL)-5 production by a clonally expanded T cell population (lymphocytic variant), most frequently characterized by a CD3-CD4+ phenotype. '), ('4906', 'NUP98_HOXD13', '', 'NUP98', 'HOXD13', '22613470', '86', 'myelodysplastic syndrome;leukemia\r\r', '', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'Recent studies show that NUP98-HOXD13 (NHD13) fusion gene results in myelodysplastic syndrome and impairs lymphocyte differentiation in transgenic mice.     ///    A NUP98-HOXD13 leukemic fusion gene leads to impaired class switch recombination and antibody production..     ///    Further delineation of the NUP98-HOXD13 transgene may reveal novel pathways involved in CSR..     ///    \"Taken together, our findings show that expression of NUP98-HOXD13 impairs CSR and reduces the antibody-mediated immune response, in addition to its role in leukemia. \"'), ('4907', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '18344568', '86', 'hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Patients were negative for the FIP1L1-PDGFRA fusion gene and required prednisone monotherapy, 20 to 60 mg per day, to maintain a stable clinical status and a blood eosinophil count of less than 1000 per microliter.     ///    \"Our study shows that treatment with mepolizumab, an agent designed to target eosinophils, can result in corticosteroid-sparing for patients negative for FIP1L1-PDGFRA who have the hypereosinophilic syndrome. \"'), ('4908', 'DP_ABAD', '', 'DP', 'ABAD', '22490659', '86', '', 'PCR', '', '', '', '', '', '', '', ' To construct TRX-ABAD-DP-TRX (T-A-T) fusion gene of a novel ABAD-DP aptamer through the insertion of ABAD-DP into the modified human thioredoxin (hTRX) and exploit the possibility of further applications for the gene therapy of Alzheimer\'s disease.     ///    \"According to the designed sequence, the target fragments of TRX1, TRX2 and ABAD-DP were created by PCR (polymerase chain reaction) and then inserted into the multiple clone site of adeno-associated virus shuttle plasmid pSSHG-CMV with gene cloning technique. \"'), ('4909', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '20021987', '86', 'T cell lymphoma;myeloid leukemia;leukemia;hypereosinophilic syndrome;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The fusion gene Fip1-like 1-platelet-derived growth factor receptor alpha (FIP1L1-PDGFRA) has been validated as a marker of response to anti-tyrosine-kinase therapy. '), ('4910', 'EWSR1_ATF1', 't(12;22)(q13;q12) / ', 'EWSR1', 'ATF1', '22559980', '85', 'clear cell sarcoma', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', ' Clear cell sarcoma (CCS) of tendons and aponeuroses is an aggressive neoplasm that is characterized by a pathognomonic translocation, t(12;22)(q13;q12), resulting in an EWSR1-ATF1 chimeric gene.     ///    We report for the first time a female patient with CCS exhibiting both EWSR1-ATF1 fusion transcripts and hereditary homozygous point mutations in introns 11 and 16 of the KIT gene. '), ('4911', 'FUS_CHOP', 't(12;16)(q13;p11) / ', 'FUS', 'CHOP', '8637704', '85', 'liposarcoma;sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' The translocation t(12;16)(q13;p11), which cytogenetically characterizes myxoid liposarcomas (MLS), results in a fusion of the CHOP gene in 12q13 and the FUS gene in 16p11, creating a chimeric FUS/CHOP gene. '), ('4912', 'LPP_HMGA2', '', 'LPP', 'HMGA2', '18383898', '85', '', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'The expressions of three previously reported gene fusion transcripts, including HMGA2/LPP, HMGA2/RDC1 and HMGA2/NFIB, were analyzed in 102 tumors from patients with lipomas.     ///    \"There were 23 cases (22.5%) expressing HMGA2/LPP, 2 cases (1.9%) expressing HMGA2/RDC1 and no cases of HMGA2/NFIB expression (0%). \"'), ('4913', 'NPM_ALK', 't(3;5)  / t(5;17)  / t(2;5)  / ', 'NPM', 'ALK', '9328447', '85', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Three reciprocal chromosome translocations found in certain cases of leukemia/lymphoma involve fusions with the NPM/B23 gene, t(5;17) NPM-RARalpha, t(2;5) NPM-ALK, and the t(3;5) NPM-MLF1.     ///    \"In the current study, MNDA was not able to bind the NPM-ALK chimera originating from the t(2;5) and containing residues 1-117 of NPM. \"    ///    The additional 58 amino acids (amino acids 117-175) of the NPM sequence that are contained in the product of the NPM-MLF1 fusion gene relative to the product of the NPM-ALK fusion appear responsible for MNDA binding. '), ('4914', 'MYB_NFIB', '', 'MYB', 'NFIB', '23778135', '85', 'adenoid cystic carcinoma', '', '', '', '', '', '', 'KB', 'Seq', 'Adenoid cystic carcinoma (ACC), a relatively rare malignancy usually of salivary gland origin, has a signature v-myb avian myeloblastosis viral oncogene homolog-nuclear factor I/B (MYB-NFIB) gene fusion that activates MYB transcriptional regulatory activity.'), ('4915', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '17389244', '85', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' In t(8;21) acute myeloid leukemia (AML), the AML1/ETO fusion protein promotes leukemogenesis by recruiting class I histone deacetylase (HDAC)-containing repressor complex to the promoter of AML1 target genes.     ///    \"Taken together, these data support the notion that VPA might effectively target AML1/ETO-driven leukemogenesis through disruption of aberrant HDAC1 function and that VPA should be integrated in novel therapeutic approaches for AML1/ETO-positive AML.. \"    ///    Targeting AML1/ETO-histone deacetylase repressor complex: a novel mechanism for valproic acid-mediated gene expression and cellular differentiation in AML1/ETO-positive acute myeloid leukemia cells..     ///    \"We report here that VPA treatment disrupts the AML1/ETO-HDAC1 physical interaction, stimulates the global dissociation of AML1/ETO-HDAC1 complex from the promoter of AML1/ETO target genes, and induces relocation of both AML1/ETO and HDAC1 protein from nuclear to perinuclear region. \"    ///    \"Furthermore, we show that mechanistically these effects associate with a significant inhibition of HDAC activity, histone H3 and H4 hyperacetylation, and recruitment of RNA polymerase II, leading to transcriptional reactivation of target genes (i.e., IL-3) otherwise silenced by AML1/ETO fusion protein. \"    ///    \"Therefore, we raised the question of whether this drug can effectively target the leukemogenic activity of the AML1/ETO fusion protein that also recruits HDAC1, a key regulator of normal and aberrant histone acetylation. \"'), ('4916', 'MAF_CTA', 't(11;14)  / t(4;14) / ', 'MAF', 'CTA', '21173094', '85', 'plasma cell tumor', '', '', '', '', '', '', '', '', 'Cell lines of CTA/MAF and MAF groups have a translocation involving C-MAF or MAFB, cell lines of groups CCND1-1 and CCND1-2like have a t(11;14) and cell lines of group MMSET have a t(4;14). '), ('4917', 'RUNX1_MTG8', 't(8;21)  / inv(16)  / ', 'RUNX1', 'MTG8', '25612891', '85', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' Core Binding Factor acute myeloid leukemia (CBF-AML) with t(8;21) RUNX1-MTG8 or inv(16) CBFB-MYH11 fusion proteins often show upregulation of wild type or mutated KIT receptor.     ///    \"Human (U937) or mouse (32D) myeloid clonal lines were used, respectively, to test: 1) the effect of RUNX1-MTG8 and CBFB-MYH11 fusion proteins, or upregulation of miR-17, on KIT-induced proliferation and myeloid differentiation, and 2) the effect of upregulation of KIT-induced proliferation per se on myeloid cell differentiation. \"    ///    \"In the first part of this study we found that stable miR-17 upregulation affects, like the CBF-AML fusion proteins (RUNX1-MTG8 or CBFB-MYH11), a core RUNX1-miRNA mechanism leading to KIT-induced proliferation of differentiation-arrested U937 myeloid cells. \"'), ('4918', 'NUP98_HOXA9', 't(7;11)(p15;p15) / ', 'NUP98', 'HOXA9', '16818636', '85', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', ' NUP98-HOXA9, the chimeric protein resulting from the t(7;11)(p15;p15) chromosomal translocation, is a prototype of several NUP98 fusions that occur in myelodysplastic syndromes and acute myeloid leukemia.     ///    \"These findings provide a comprehensive picture of the changes in proliferation, differentiation, and global gene expression that underlie the leukemic transformation of human hematopoietic cells by NUP98-HOXA9.. \"    ///    Colony-forming cell (CFC) assays in semisolid medium combined with morphologic examination and flow cytometric immunophenotyping revealed that NUP98-HOXA9 increased the numbers of erythroid precursors and impaired both myeloid and erythroid differentiation.     ///    \"In continuous liquid culture, cells transduced with NUP98-HOXA9 exhibited a biphasic growth curve with initial growth inhibition followed by enhanced long-term proliferation, suggesting an increase in the numbers of primitive self-renewing cells. \"    ///    NUP98-HOXA9 induces long-term proliferation and blocks differentiation of primary human CD34+ hematopoietic cells..     ///    \"To understand the molecular mechanisms underlying the effects of NUP98-HOXA9 on hematopoietic cell proliferation and differentiation, oligonucleotide microarray analysis was done at several time points over 16 days, starting at 6 hours posttransduction. \"'), ('4919', 'SET_CAN', 't(9;9)  / ', 'SET', 'CAN', '17569777', '85', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'SET-CAN, the product of the t(9;9) in acute undifferentiated leukemia, causes expansion of early hematopoietic progenitors and hyperproliferation of stomach mucosa in transgenic mice..     ///    \" Leukemia-specific chromosome translocations involving the nucleoporin CAN/NUP214 lead to expression of different fusion genes including DEK-CAN, CAN-ABL, and SET-CAN. \"    ///    \"This suggests that SET-CAN expression in acute undifferentiated leukemia might determine the primitive phenotype of the disease, whereas secondary genetic lesions are necessary for disease development. \"    ///    \"DEK-CAN and CAN-ABL1 are associated with acute myeloid leukemia and T-cell acute lymphoblastic leukemia, respectively, whereas SET-CAN was identified in a patient with acute undifferentiated leukemia. \"    ///    \"Here, we assessed the leukemogenic potential of SET-CAN in the hematopoietic system of transgenic mice. \"    ///    \"Surprisingly, SET-CAN mice developed spontaneous hyperplasia of the stomach mucosa, which coincided with overexpression of beta-catenin and vastly increased numbers of proliferating gastric mucosa cells, suggesting a role of SET-CAN in proliferation of certain epithelial cells.. \"    ///    \"Ectopic expression of SET-CAN inhibits vitamin-D(3)-induced differentiation of the human promonocytic U937cells, whereas ectopic SET expression induces differentiation. \"    ///    \"Although SET-CAN mice showed expansion of an early progenitor cell pool and partial depletion of lymphocytes, the animals were not leukemia-prone and did not show shortening of disease latency after retroviral tagging. \"'), ('4920', 'NPM_ALK', 't(2;5)(p23;q35) / t(2;5) / ', 'NPM', 'ALK', '10793082', '85', 'anaplastic large cell lymphoma;neuroblastoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' ALK (anaplastic lymphoma kinase) is a tyrosine kinase receptor, expressed as part of the chimeric NPM-ALK protein, in anaplastic large cell lymphomas (ALCLs) exhibiting the t(2;5)(p23;q35) translocation. '), ('4921', 'OCT4_EWS', 't(6;22)  / ', 'OCT4', 'EWS', '20051954', '85', 'ewing sarcoma;mucoepidermoid carcinoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'These results suggest that the oncogenic effect of the t(6;22) translocation is due to the EWS-Oct-4B chimeric protein, and that alternative fusion of the EWS amino terminal domain to the Oct-4 DNA-binding domain produces another transforming chimeric product in human epithelial tumours..     ///    \"EWS-Oct-4B, an alternative EWS-Oct-4 fusion gene, is a potent oncogene linked to human epithelial tumours.. \"    ///    Comparison of the properties of EWS-Oct-4B and EWS-Oct-4 indicated that EWS-Oct-4B is a less-potent transcriptional activator of a reporter construct carrying the Oct-4-binding sites.     ///    \"Despite its reduced activity as a transcriptional activator, EWS-Oct-4B regulated the expression of fgf-4 (fibroblast growth factor-4) and nanog, which are potent mitogens, as well as of Oct-4 downstream target genes, the promoters of which contain potential Oct-4-binding sites. \"    ///    \"As the N-terminal and POU domains of the EWS-Oct-4 and EWS-Oct-4B proteins are not structurally identical, we decided to investigate the functional consequences of the EWS-Oct-4B fusion. \"    ///    \"Finally, ectopic expression of EWS-Oct-4B in Oct-4-null ZHBTc4 ES cells resulted in increased tumourigenic growth potential in nude mice. \"    ///     Characterisation of EWS-Oct-4 translocation fusion product in bone and soft-tissue tumours revealed a chimeric gene resulting from an in-frame fusion between EWS (Ewing\'s sarcoma gene) exons 1-6 and Oct-4 exons 1-4.     ///    We found that this new chimeric gene encodes a nuclear protein that binds DNA with the same sequence specificity as the parental Oct-4 protein or the fusion EWS-Oct-4 protein. '), ('4922', 'PBX1_E2A', 't(1;19)  / t(1;19) / ', 'PBX1', 'E2A', '10490826', '85', 'lymphocytic leukemia;precursor B cell leukemia', '', '', '', '', '', 'Transcription_Factor', '', '', ' The t(1;19) translocation of pre-B cell acute lymphocytic leukemia (ALL) produces E2a-Pbx1, a chimeric oncoprotein containing the transactivation domains of E2a joined to the homeodomain protein, Pbx1. '), ('4923', 'SYK_ITK', 't(5;9)(q33;q22) / ', 'SYK', 'ITK', '20439541', '85', 'peripheral T cell lymphoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Recently, the chromosomal translocation t(5;9)(q33;q22) generating the interleukin-2 (IL-2)-inducible T cell kinase (ITK)-spleen tyrosine kinase (SYK) fusion tyrosine kinase was identified as a recurrent event in PTCL.     ///    \"Ultimately, conditional expression of patient-derived ITK-SYK in mice induces highly malignant PTCLs with 100% penetrance that resemble the human disease. \"    ///    The fusion kinase ITK-SYK mimics a T cell receptor signal and drives oncogenesis in conditional mouse models of peripheral T cell lymphoma..     ///    We show that ITK-SYK associates constitutively with lipid rafts in T cells and triggers antigen-independent phosphorylation of T cell receptor (TCR)-proximal proteins. ');
INSERT INTO `ChimerPub_dump` VALUES ('4924', 'ETO_AML1', 't(8;21)(q22;q22) / ', 'ETO', 'AML1', '26706127', '85', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'While known for decades to be the translational product of a chimeric gene created by the stable chromosome translocation t(8;21)(q22;q22), it is not known how AML1-ETO achieves its native and functional conformation or whether this process can be targeted for therapeutic benefit.     ///    \"AML1-ETO functions as a rogue transcription factor, altering the expression of genes critical for myeloid cell development and differentiation. \"    ///    \"Our results suggest that TRiC contributes to AML1-ETO proteostasis through specific interactions between the oncoprotein\'s DNA-binding domain, which may be targeted for therapeutic benefit. \"    ///    \"Here, we show that the biosynthesis and folding of the AML1-ETO protein is facilitated by interaction with the essential eukaryotic chaperonin TRiC (or CCT). \"    ///    \"We demonstrate that a folding intermediate of AML1-ETO binds to TRiC directly, mainly through its ?-strand rich, DNA-binding domain (AML-(1-175)), with the assistance of HSP70. \"    ///    Chaperonin TRiC/CCT Modulates the Folding and Activity of Leukemogenic Fusion Oncoprotein AML1-ETO..     ///    \" AML1-ETO is the most common fusion oncoprotein causing acute myeloid leukemia (AML), a disease with a 5-year survival rate of only 24%. \"'), ('4925', 'HLF_E2A', 't(17;19)  / ', 'HLF', 'E2A', '10073576', '85', 'hepatocellular carcinoma', '', '', 'Oncogene', '', '', '', '', '', 'We have also demonstrated that an E2A-HLF chimera, derived from a t(17;19) translocation in pre-B acute lymphoblastic leukemia (ALL) cells, is capable of mediating expression from the Factor VIII and Factor IX promoters in both hepatoma cells and pre-B ALL cells. '), ('4926', 'ITK_IL2', 't(5;9)(q33;q22) / ', 'ITK', 'IL2', '20439541', '85', 'peripheral T cell lymphoma', '', 'Kinase', '', '', '', '', '', '', 'Recently, the chromosomal translocation t(5;9)(q33;q22) generating the interleukin-2 (IL-2)-inducible T cell kinase (ITK)-spleen tyrosine kinase (SYK) fusion tyrosine kinase was identified as a recurrent event in PTCL. '), ('4927', 'NPM_ALK', 't(14;19)(q32;q13) / t(2;5)(p23;q35) / t(2;5) / t(14;19) / ', 'NPM', 'ALK', '16533741', '85', 'anaplastic large cell lymphoma;chronic lymphocytic leukemia;non Hodgkin lymphoma;leukemia;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Future studies should identify the relationships among the 3 independent molecules (ie, NPM/ALK, CD30, and Bcl-3) that are activated in t(2;5)+ ALCL..     ///    \"Anaplastic large cell lymphoma (ALCL) is a subtype of aggressive non-Hodgkin\'s lymphoma that is characterized by expression of CD30 and the NPM/ALK chimeric protein, which is generated by t(2;5)(p23;q35). \"'), ('4928', 'MYH11_CBFB', 't(8;21)  / inv(16)  / ', 'MYH11', 'CBFB', '25612891', '85', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' Core Binding Factor acute myeloid leukemia (CBF-AML) with t(8;21) RUNX1-MTG8 or inv(16) CBFB-MYH11 fusion proteins often show upregulation of wild type or mutated KIT receptor.     ///    \"In the first part of this study we found that stable miR-17 upregulation affects, like the CBF-AML fusion proteins (RUNX1-MTG8 or CBFB-MYH11), a core RUNX1-miRNA mechanism leading to KIT-induced proliferation of differentiation-arrested U937 myeloid cells. \"    ///    \"Human (U937) or mouse (32D) myeloid clonal lines were used, respectively, to test: 1) the effect of RUNX1-MTG8 and CBFB-MYH11 fusion proteins, or upregulation of miR-17, on KIT-induced proliferation and myeloid differentiation, and 2) the effect of upregulation of KIT-induced proliferation per se on myeloid cell differentiation. \"'), ('4929', 'MLL_CBP', 't(8;16) / t(11;16) / ', 'MLL', 'CBP', '10746038', '85', 'Rubinstein Taybi Syndrome', '', '', '', '', '', '', '', '', 'Therapy using topoisomerase II inhibitors can induce the t(11;16)(q23;13.3) translocation causing acute myeloid or lymphoid leukaemia or myelodysplasia through production of the MLL/CBP protein chimera.. '), ('4930', 'EWS_ERG', 't(21;22)  / ', 'EWS', 'ERG', '12554743', '85', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' A specific t(21;22) chromosomal translocation creates the chimeric EWS/ERG gene in some cases of Ewing\'s sarcoma.     ///    \"We found that expression of EWS/ERG, but not wild-type ERG, transactivated the COL11A2 promoter and that this transactivation required not only the N-terminal region of EWS but also an intact DNA-binding domain from ERG. \"    ///    \"Taken together, these findings indicate that the COL11A2 gene is regulated both by potential ERG association with a histone deacetylase complex and by direct EWS/ERG recruitment of RNA polymerase II.. \"    ///    \"Treatment of cells with the histone deacetylase inhibitor trichostatin A enabled ERG to transactivate the COL11A2 promoter, therefore abolishing the differential effects of EWS/ERG and ERG. \"    ///    \"We found that both the EWS/ERG and COL11A2 genes are expressed in the Ewing\'s sarcoma cell line, CADO-ES1. \"    ///    \"EWS/ERG, but not wild-type ERG, bound to RNA polymerase II. \"    ///    COL11A2 collagen gene transcription is differentially regulated by EWS/ERG sarcoma fusion protein and wild-type ERG..     ///    \"Electrophoretic mobility shift assay using COL11A2 promoter sequence showed involvement of EWS/ERG in the formation of DNA-protein complexes, and chromatin immunoprecipitation assay revealed direct interaction between COL11A2 promoter and EWS/ERG fusion protein in vivo. \"    ///    \"To investigate a potential role for EWS/ERG in COL11A2 gene expression, we characterized the COL11A2 promoter and tested the ability of wild-type ERG and EWS/ERG sarcoma fusion protein to transactivate COL11A2 promoter using a luciferase assay. \"    ///    \"In the resultant EWS/ERG fusion protein, the N-terminal part of the ETS family protein ERG is replaced by the N terminus of the RNA-binding protein EWS. \"'), ('4931', 'MLL_AF4', 't(4;11) / ', 'MLL', 'AF4', '23403319', '85', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia;neuroblastoma\r\r', '', '', '', '', '', '', '', '', 'Finally, we demonstrate that RAS mutations, and not the lack of Homeobox gene A9 expression nor the expression of AF4-MLL are associated with poor outcome in t(4;11)-rearranged infants.     ///    \"Using conventional sequencing analysis, we screened neuroblastoma RAS viral (v-ras) oncogene homolog gene (NRAS), v-Ki-ras Kirsten rat sarcoma viral oncogene homolog gene (KRAS), and v-raf murine sarcoma viral oncogene homolog B1 gene (BRAF) for mutations in a large cohort (n=109) of infant acute lymphoblastic leukemia patients and studied the mutations in relation to several clinical parameters, and in relation to Homeobox gene A9 expression and the presence of ALL1 fused gene 4-Mixed Lineage Leukemia (AF4-MLL). \"'), ('4932', 'MORF_CBP', 't(10;16)(q22;p13) / t(10;16) / ', 'MORF', 'CBP', '12542485', '85', 'myelodysplastic syndrome\r\r', '', '', '', '', '', '', '', '', 'This is the first reported case of t-MDS associated with t(10;16), and provides molecular evidence that the novel MORF-CBP and/or CBP-MORF fusion protein(s) might play an important role in the development of t-MDS..     ///    \"In a reciprocal CBP-MORF transcript, exon 4 of the CBP gene was fused in frame with exon 16 of the MORF gene. \"'), ('4933', 'GLIS2_CBFA2T3', 'inv(16) / ', 'GLIS2', 'CBFA2T3', '23153540', '85', 'leukemia;down syndrome\r\r', '', '', '', '', '', '', '', '', 'Our analysis identified a cryptic chromosome 16 inversion (inv(16)(p13.3q24.3)) in 27% of pediatric cases, which encodes a CBFA2T3-GLIS2 fusion protein.     ///    Expression of CBFA2T3-GLIS2 in Drosophila and murine hematopoietic cells induced bone morphogenic protein (BMP) signaling and resulted in a marked increase in the self-renewal capacity of hematopoietic progenitors.     ///    These data suggest that expression of CBFA2T3-GLIS2 directly contributes to leukemogenesis..     ///    An Inv(16)(p13.3q24.3)-encoded CBFA2T3-GLIS2 fusion protein defines an aggressive subtype of pediatric acute megakaryoblastic leukemia.. '), ('4934', 'MOZ_CBP', 't(8;16) / t(11;16) / ', 'MOZ', 'CBP', '10746038', '85', 'Rubinstein Taybi Syndrome', '', '', '', '', '', '', '', '', 'The CBP gene can be affected by the t(8;16)(p11;p13.3) translocation resulting in production of the MOZ/CBP chimeric protein and in induction of acute myeloblastic leukaemia. '), ('4935', 'BCR_ABL1', '', 'BCR', 'ABL1', '20300999', '85', 'leukemia\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'CML comprises approximately 20% of all leukemias and is characterized by a balanced (9;22) chromosomal translocation that results in the formation of a chimeric gene comprised of the BCR (breakpoint cluster region) gene and the ABL oncogene (BCR-ABL fusion gene). '), ('4936', 'TEL_AML1', '', 'TEL', 'AML1', '10488742', '84', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The 12;21 chromosomal translocation occurs in leukemic cells from 20(30% of patients with B-lineage childhood acute lymphoblastic leukemia, the result being the TEL/AML1 fusion gene carrying a sequence different from TEL or AML1.     ///    \"Furthermore, these T-cell clones proliferated in response to several altered peptide ligands carrying a single residue substitution in the TEL/AML1 peptide, and some induced augmentation of proliferation and production of Th1-type cytokines. \"    ///    \"We established two human CD4+ alphabeta T-cell clones (T31.1 and Y41.2) reacting to the TEL/AML1 fusion region, from two unrelated healthy donors. \"    ///    \"In order to do this, we stimulated peripheral blood mononuclear cells with synthetic peptides corresponding to the TEL/ AML1 fusion region. \"    ///    \"Both T31.1 and Y41.2 proliferated in response to TEL/ AML1 fusion protein as well as to a peptide IGRIAECILGMNPSR, in the context of HLA-DP5 and DP17, respectively, and killed B lymphoblastoid cells pulsed with the peptide. \"    ///    \"Because the protein newly formed by TEL/ AML1 fusion is probably not tolerated by human immune system, the fusion region is a good candidate for tumor antigen expressed only in TEL/ AML1-positive leukemic cells. \"    ///    Augmentation of immune response by altered peptide ligands of the antigenic peptide in a human CD4+ T-cell clone reacting to TEL/AML1 fusion protein.. '), ('4937', 'MEF2D_DAZAP1', 't(1;19) / t(1;19)  / ', 'MEF2D', 'DAZAP1', '15744350', '84', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'We found that the t(1;19) in TS-2 fuses the 19p13 gene DAZAP1 (Deleted in Azoospermia-Associated Protein 1) to the 1q23 gene MEF2D (Myocyte Enhancer Factor 2D), leading to expression of reciprocal in-frame DAZAP1/MEF2D and MEF2D/DAZAP1 transcripts.     ///    Cloning and functional characterization of MEF2D/DAZAP1 and DAZAP1/MEF2D fusion proteins created by a variant t(1;19)(q23;p13.3) in acute lymphoblastic leukemia..     ///    We demonstrate that MEF2D/DAZAP1 binds avidly and specifically to DNA in a manner indistinguishable from that of native MEF2D and is a substantially more potent transcriptional activator than MEF2D.     ///    We also show that DAZAP1/MEF2D is a sequence-specific RNA-binding protein.     ///    Our data implicate MEF2D in human cancer and suggest that MEF2D/DAZAP1 and/or DAZAP1/MEF2D contribute to leukemogenesis by altering signaling pathways normally regulated by wild-type MEF2D and DAZAP1.. '), ('4938', 'ESR1_GATA1', '', 'ESR1', 'GATA1', '11023493', '84', 'leukemia\r\r', '', '', 'Oncogene', 'Tumor_suppressor', 'Receptor', 'Transcription_Factor', '', '', 'In addition, PU.1 had a similar effect in the G1ER cell line, in which the GATA-1 null erythroid cell line G1E has been transduced with a GATA-1-estrogen receptor fusion gene, which is directly dependent on induction of the GATA-1 fusion protein to effect erythroid maturation. '), ('4939', 'BCL2_IG', 't(14;18)  / t(18;22)  / ', 'BCL2', 'IG', '2506501', '84', 'chronic lymphocytic leukemia;leukemia;B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In this paper, we completed the structural analysis of the bcl-2/Ig lambda gene rearrangement in CLL 1446 by cloning the corresponding partner of the rearrangement. '), ('4940', 'MALT1_API2', 't(11;18)(q21;q21) / ', 'MALT1', 'API2', '11069033', '84', 'MALT Lymphoma', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The molecular analysis of these variants allowed the design of optimised assays for the diagnosis of the API2-MALT1 gene rearrangement..     ///    Heterogeneity of the API2-MALT1 gene rearrangement in MALT-type lymphoma..     ///    RT-PCR analysis and DNA sequencing demonstrated the expression of an API2-MALT1 fusion transcript in 18/24 gastral and extragastral MALT-type lymphomas. '), ('4941', 'ETO_AML1', '', 'ETO', 'AML1', '22443175', '84', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'The observed repression of MTG16/MTGR1 promoters by the leukemia associated AML1-ETO fusion gene may have a role in hematopoietic dysfunction of leukemia. '), ('4942', 'NUP98_HOXD13', '', 'NUP98', 'HOXD13', '17712416', '84', 'leukemia\r\r', '', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'Interestingly, an engineered NUP98-HOXA10 (NA10) fusion can induce a several hundred-fold expansion of HSCs in vitro and NA10 and the AML-associated fusion gene NUP98-HOXD13 (ND13) have a virtually indistinguishable ability to transform myeloid progenitor cells in vitro and to induce leukemia in collaboration with MEIS1 in vivo. '), ('4943', 'RIF1_PKD1L1', '', 'RIF1', 'PKD1L1', '18084325', '84', 'breast cancer\r\r', '', '', '', '', '', '', '', '', 'Two gene fusions were demonstrated, TAX1BP1-AHCY and RIF1-PKD1L1. '), ('4944', 'SYT_SSX', 'p11;q11 / ', 'SYT', 'SSX', '10961176', '84', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'In addition, cytogenetically, this cell line expressed the SYT-SSX chimaeric transcript as a result of the t(X;18) (p11;q11) translocation. '), ('4945', 'MLL_ENL', 't(11;19) / t(11;19)  / ', 'MLL', 'ENL', '17145626', '83', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'This translocation generates MLL/ENL fusion transcripts.     ///    Analysis of acute leukemias with MLL/ENL fusion transcripts: identification of two novel breakpoints in ENL..     ///    The present study showed that PCR-based techniques are more sensitive than conventional karyotyping for detecting MLL/ENL fusions and an extra antisense primer at exon 6 of ENL should be included in RT-PCR assay to ensure complete detection of all MLL/ENL fusion transcripts..     ///    \"Of 15 patients with MLL/ENL, 7 had precursor B-cell acute lymphoblastic leukemia, 4 had T-cell acute lymphoblastic leukemia, and 4 had acute myeloid leukemia. \"    ///    \"Reverse transcriptase-polymerase chain reaction (RT-PCR) assay, using primer sets covering the 2 previously described breakpoints at exons 2 and 7 of ENL detected 11 samples harboring MLL/ENL. \"'), ('4946', 'MTG16_AML1', 't(16;21)(q24;q22) / inv(16)(p13q22) / t(16;16)(p13;q22) / t(8;21)(q22;q22) / ', 'MTG16', 'AML1', '22403058', '83', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'however, it is rarely reported with t(16;21)(q24;q22), which produces the RUNX1-CBFA2T3 (AML1-MTG16) chimera. '), ('4947', 'MALT1_API2', 't(14;18)(q32;q21) / t(11;18)(q21;q21) / t(1;14)(p22;q32) / ', 'MALT1', 'API2', '15682443', '83', 'MALT lymphoma;lymphoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 't(11;18)(q21;q21) fuses the N-terminus of the API2 gene to the C-terminus of the MALT1 gene and generates a functional API2-MALT1 product. '), ('4948', 'TOP1_NUP98', 't(11;20)(p15;q11) / t(11;20) / ', 'TOP1', 'NUP98', '15036893', '83', 'acute myeloid leukemia;myelodysplastic syndrome;leukemia;polycythemia vera\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', '', 'The literature review disclosed that, among six cases of de novo AML with t(11;20), the NUP98 gene was shown to be involved in one case and the NUP98/TOP1 chimera was detected in another.     ///    \"In t-MDS cases, the translocation resulted in the NUP98/TOP1 fusion transcript. \"    ///    \"We report a further case of de novo AML, subtype M2 in the French-American-British (FAB) classification, in which the reverse-transcriptase polymerase chain reaction (RT-PCR) revealed the NUP98/TOP1 chimera and also, for the first time, its reciprocal TOP1/NUP98. \"    ///    \"The reciprocal TOP1/NUP98 chimera, however, has not yet been encountered. \"'), ('4949', 'TFE3_ASPL', '', 'TFE3', 'ASPL', '23760492', '83', 'renal cell carcinoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'They showed strong nuclear staining for TFE3 in immunohistochemistry, TFE3 gene rearrangement in dual-color, break-apart FISH analysis and ASPL-TFE3 type 1 fusion transcripts detected by RT-PCR and direct DNA sequencing.     ///    Establishment of an ASPL-TFE3 renal cell carcinoma cell line (S-TFE).. '), ('4950', 'TRPS1_AML1', 't(8;21)(q24;q22) / ', 'TRPS1', 'AML1', '17244685', '82', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Concurrent transcriptional deregulation of AML1/RUNX1 and GATA factors by the AML1-TRPS1 chimeric gene in t(8;21)(q24;q22) acute myeloid leukemia.     ///    Concurrent transcriptional deregulation of AML1/RUNX1 and GATA factors by the AML1-TRPS1 chimeric gene in t(8;21)(q24;q22) acute myeloid leukemia..     ///    \"AML1-TRPS1 stimulated proliferation of hematopoietic colony-forming cells and repressed the transcriptional activity of AML1 and GATA-1 by 2 different mechanisms: competition at their cognate DNA-binding sites and physical sequestrations of AML1 and GATA-1, suggesting that simultaneous deregulation of AML1 and GATA factors constitutes a basis for leukemogenesis.. \"'), ('4951', 'TLS_ERG', 't(16;21)  / ', 'TLS', 'ERG', '18505930', '82', 'myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' TLS-ERG fusion protein is derived from the t(16;21) translocation found in human myeloid leukemia.     ///    \"Through site-directed mutagenesis, we showed that transformation and deregulation of Cdk1 by TLS-ERG require an intact ets DNA-binding domain within the fusion protein. \"    ///    TLS-ERG leukemia fusion protein deregulates cyclin-dependent kinase 1 and blocks terminal differentiation of myeloid progenitor cells..     ///    \"Through site-directed mutagenesis, we showed that transformation and deregulation of Cdk1 by TLS-ERG require an intact ets DNA-binding domain within the fusion protein.\"    ///    \"To investigate whether Cdk1 deregulation is indeed responsible for transformation by TLS-ERG, we constructed lentiviral vectors for delivery of Cdk1 mutants and small interfering RNA (siRNA). \"    ///    \"Here, we show that retroviral transduction of TLS-ERG confers a growth advantage to L-G myeloid progenitor cells and blocks terminal differentiation. \"'), ('4952', 'MLL_AF10', 't(10;11) / p11.2;q23 / t(10;11)  / t(10;11)(p12;q23) / t(10;11)(p13;q14) / inv(11) / 10p11.2 / ', 'MLL', 'AF10', '9694699', '82', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Recently, two types of chimeric transcripts, MLL-AF10 in t(10;11)(p12;q23) and CALM-AF10 in t(10;11)(p13;q14), were isolated. '), ('4953', 'FUS_ERG', 't(16;21) / p11.2;q22 / t(16;21)(p11;q22) / ', 'FUS', 'ERG', '19781443', '82', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Detection of FUS-ERG chimeric transcript in two cases of acute myeloid leukemia with t(16;21)(p11.2;q22) with unusual characteristics..     ///    \"The chimeric transcript FUS-ERG formed by this translocation which causes the replacement of RNA-binding domain of FUS (alias TLS) with the DNA-binding domain of ERG, and this event is thought to be responsible for leukemogenesis. \"    ///    \"The chimeric transcript FUS-ERG formed by this translocation which causes the replacement of RNA-binding domain of FUS (alias TLS) with the DNA-binding domain of ERG, and this event is thought to be responsible for leukemogenesis.\"'), ('4954', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '18474293', '82', 'leukemia;adenocarcinoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', 'Seq', 'We identified the fusion gene TMPRSS2-ERG by reverse-transcriptase polymerase chain reaction (RT-PCR) in 40/55 carcinomas (72%). '), ('4955', 'CALM_AF10', 't(10;11) / p11.2;q23 / t(10;11)  / t(10;11)(p12;q23) / t(10;11)(p13;q14) / inv(11) / 10p11.2 / ', 'CALM', 'AF10', '9694699', '82', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Recently, two types of chimeric transcripts, MLL-AF10 in t(10;11)(p12;q23) and CALM-AF10 in t(10;11)(p13;q14), were isolated. '), ('4956', 'FUS_ERG', 't(16;21)(p11.2;q22) / t(16;21)(p11.2;q22) / / ', 'FUS', 'ERG', '21536242', '82', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Establishment and characterization of a novel acute myeloid leukemia cell line, JIH-4, carrying a t(16;21)(p11.2;q22) and expressing the FUS-ERG fusion.    ///    \"Establishment and characterization of a novel acute myeloid leukemia cell line, JIH-4, carrying a t(16;21)(p11.2;q22) and expressing the FUS-ERG fusion.. \"    ///    \" Human leukemia cell lines are powerful tools in the study of leukemogenesis, particularly for rare but recurrent subtypes such as acute myeloid leukemia (AML) with the t(16;21)(p11.2;q22) and FUS-ERG fusion. \"    ///    The FUS-ERG fusion transcript was identified by reverse transcriptase polymerase chain reaction (RT-PCR). '), ('4957', 'RBP56_CHN', 't(9;17)(q22;q11) / t(9;22)(q22;q12) / t(9;22)  / t(9;17)  / ', 'RBP56', 'CHN', '10602519', '82', 'chondrosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The presence of the RBP56/CHN chimeric gene in EMC with t(9;17)(q22;q11) shows that the N-terminal parts of EWS and RBP56 have similar oncogenic potential making them pathogenetically equivalent in oncoproteins arising from fusions with certain transcription factors..     ///    We examined two EMC with t(9;17)(q22;q11) and found that the CHN gene was recombined with the RBP56 gene from 17q11 to generate a chimeric RBP56/CHN. '), ('4958', 'MOZ_CBP', 't(8;16)(p11;p13) / t(8;16) (p11;p13) / t(8;16)  / ', 'MOZ', 'CBP', '15160929', '82', 'leukemia;breast cancer;ovarian cancer\r\r', '', '', '', '', '', '', '', '', 'The t(8;16) fuses the MOZ gene which encodes a histone acetyltransferase, located on 8p11 with the CBP gene which also encodes a histone acetyltransferase, located on 16p13, and recent reports suggested that the chimeric transcription MOZ-CBP is essential for leukemogenesis. '), ('4959', 'BCR_ABL1', '', 'BCR', 'ABL1', '26417552', '82', 'myeloproliferative disorder;chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'It is characterized by the presence of Philadelphia chromosome (Ph) with BCR - ABL 1 fusion gene. '), ('4960', 'TRKC_TEL', 't(12;15)(p13;q25) / ', 'TRKC', 'TEL', '10775267', '82', 'leukemia;sarcoma;lymphoma\r\r', '', '', '', '', '', '', '', '', ' The TEL-TRKC fusion is expressed as a consequence of t(12;15)(p13;q25), and is associated with two human cancers: congenital fibrosarcoma and acute myelogenous leukemia (AML).     ///    Signal transduction and transforming properties of the TEL-TRKC fusions associated with t(12;15)(p13;q25) in congenital fibrosarcoma and acute myelogenous leukemia..     ///    \"TEL-TRKC variants are potent activators of the MAP kinase pathway, but neither variant activates Stat5 or other Stat family members. \"    ///    \"Collectively, these data demonstrate that the TEL-TRKC fusion variants are oncoproteins that activate the MAP kinase pathway, and do not require activation of either PLCgamma or Stat5 for efficient induction of a myeloproliferative phenotype in the murine BMT model.. \"'), ('4961', 'WNT2B_ST7', '1p13.2 / ', 'WNT2B', 'ST7', '16273293', '82', 'gastric cancer;esophageal cancer\r\r', '', '', '', '', '', '', '', '', 'WNT2B-ST7L-CAPZA1 locus at human chromosome 1p13.2 and WNT2-ST7-CAPZA2 locus at human chromosome 7q31.2 are paralogous regions within the human genome. '), ('4962', 'ETO_AML1', 't(8;21) / t(3;21) / inv(16) / ', 'ETO', 'AML1', '8035830', '82', 'myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Since t(8;21), t(3;21), and inv(16), associated with myeloid leukemias, disrupt subunits of PEBP2/CBF, we speculate that the resulting oncoproteins, AML1-ETO, AML1-EAP, AML1-Evi1, and CBF beta-MYH11, inhibit early myeloid differentiation.. '), ('4963', 'E47_E12', 't(17;19)  / ', 'E47', 'E12', '1516826', '82', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'We report that the t(17;19) in acute lymphoblastic leukemia produces a chimeric transcription factor consisting of the amino-terminal portion of HLH proteins E12/E47 (products of the E2A gene) fused to the basic DNA-binding and leucine zipper dimerization motifs of a novel hepatic protein called hepatic leukemia factor (Hlf). '), ('4964', 'EAP_AML1', 't(8;21) / t(3;21) / inv(16) / ', 'EAP', 'AML1', '8035830', '82', 'myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Since t(8;21), t(3;21), and inv(16), associated with myeloid leukemias, disrupt subunits of PEBP2/CBF, we speculate that the resulting oncoproteins, AML1-ETO, AML1-EAP, AML1-Evi1, and CBF beta-MYH11, inhibit early myeloid differentiation.. '), ('4965', 'CCND1_CDK4', '11p15.5 / ', 'CCND1', 'CDK4', '23318451', '82', '', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Thus, we conclude that TRIM3 is a tumor suppressor mapping to chromosome 11p15.5 and that it might block tumor growth by sequestering p21 and preventing it from facilitating the accumulation of cyclin D1-cdk4. '), ('4966', 'HRX_ENL', 't(11;19) / ', 'HRX', 'ENL', '9250666', '82', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'In particular, leukemias with the t(11;19)(q23;p13.3) translocation express HRX-ENL fusion proteins and display features which suggest the malignant transformation of myeloid and/or lymphoid progenitor(s).     ///    Immortalized cells or enriched primary hematopoietic stem cells transduced with HRX-ENL induced myeloid leukemias in syngeneic and SCID recipients.     ///    \"In contrast, wild-type ENL or a deletion mutant of HRX-ENL lacking the ENL component did not demonstrate in vitro transforming capabilities. \"    ///    \"To characterize directly the potential transforming effects of HRX-ENL on primitive hematopoietic precursors, the fusion cDNA was transduced by retroviral gene transfer into cell populations enriched in hematopoietic stem cells. \"    ///    Immortalization and leukemic transformation of a myelomonocytic precursor by retrovirally transduced HRX-ENL..     ///    Immortalized cells contained structurally intact HRX-ENL proviral DNA and expressed a low-level of HRX-ENL mRNA. '), ('4967', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '24065644', '82', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'We obtained the fusion gene expression profiling of prostate tumors, clustered them into several biological pathways, highlighted three \"rediscovered\" fusion genes (TMPRSS2-ERG, KLK2, and KLK3) and proved the reliability of our method.. '), ('4968', 'HLA-DQA1_DRB1', '6p21.32 / ', 'HLA-DQA1', 'DRB1', '22807686', '82', 'hepatocellular carcinoma\r\r', '', '', '', '', '', '', '', '', 'We discovered two novel associations at rs9272105 (HLA-DQA1/DRB1) on 6p21.32 (OR?=?1.30, P?=?1.13??10????) and rs455804 (GRIK1) on 21q21.3 (OR?=?0.84, P?=?1.86??10??), which were further replicated in the fourth independent sample of 1,298 cases and 1,026 controls (rs9272105: OR?=?1.25, P?=?1.71??10??. '), ('4969', 'HIF_E2A', 't(17;19) / ', 'HIF', 'E2A', '15665112', '82', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'E2A-hepatic leukemia factor (HLF), a chimeric basic region/leucine zipper (bZIP) transcription factor expressed in t(17;19)-positive leukemia cells, contributes to leukemogenesis through its potential to inhibit apoptosis.     ///    \"In contrast, E2A-HLF promoted cell survival more efficiently than TEF but did not down-regulate betac chain expression, suggesting that E2A-HLF retains ideal properties for driving leukemic transformation.. \"    ///    \"TEF, an antiapoptotic bZIP transcription factor related to the oncogenic E2A-HLF chimera, inhibits cell growth by down-regulating expression of the common beta chain of cytokine receptors.. \"    ///    \"To identify physiologic counterparts of this chimera, we investigated the function of other bZIP factors that bind to the same DNA sequence recognized by E2A-HLF. \"'), ('4970', 'HIF_E2A', 't(17;19) / ', 'HIF', 'E2A', '8639829', '82', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'E2A-hepatic leukemia factor (HLF), a chimeric transcription factor created by the t(17;19), consists of the amino terminal portion of E2A proteins, including two experimentally defined transcriptional activation domains (TADs), fused to the HLF DNA binding and protein dimerization basic leucine zipper (bZIP) domain.     ///    \"To understand the mechanisms by which E2A-HLF induces leukemia and the crucial functions contributed by each constituent of the chimera, it is essential to define the normal transcriptional regulatory properties of HLF and related bZIP proteins. \"'), ('4971', 'EVI1_CDK6', 't(3;7)(q26;q21) / ', 'EVI1', 'CDK6', '15322764', '82', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Molecular analysis did not detect any EVI1/CDK6 chimeric transcript generated by t(3;7)(q26;q21), but did indicate overexpression of EVI1, which occurs frequently in progression to myeloid BC in CML. '), ('4972', 'Immunoglobulin _BCL2', 't(14;18) (q32;q21) / ', 'Immunoglobulin ', 'BCL2', '7738613', '82', 'non Hodgkin lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Molecular analysis of the t(14;18) (q32;q21) translocation (bcl-2/immunoglobulin [Ig] heavy-chain joining locus [JH] fusion) or antigen receptor gene rearrangements was performed to determine the presence of lymphoma cells at presentation, in PBSC harvests, and before and after autologous PBSCT. '), ('4973', 'TEL_AML1', 't(8;21) / t(3;21) / t(12;21) / ', 'TEL', 'AML1', '9209370', '82', '', '', '', '', '', '', '', '', '', ' The AML1 is the most commonly involved transcription factor gene in human leukemias and forms chimeric transcription factor genes, namely, AML1/MTG8 by the t(8;21), AML1/EVI-1 by the t(3;21), and TEL/AML1 by the t(12;21). '), ('4974', 'EVI1_AML1', 't(8;21) / t(3;21) / inv(16) / ', 'EVI1', 'AML1', '8035830', '82', 'myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Since t(8;21), t(3;21), and inv(16), associated with myeloid leukemias, disrupt subunits of PEBP2/CBF, we speculate that the resulting oncoproteins, AML1-ETO, AML1-EAP, AML1-Evi1, and CBF beta-MYH11, inhibit early myeloid differentiation.. '), ('4975', 'ETO_AML1', 't(8;21;14)(q22;q22;q24) / t(8;21)  / t(8;21)(q22;q22) / ', 'ETO', 'AML1', '11850074', '82', 'leukemia\r\r', '', '', '', '', '', '', '', '', 't(8;21;14)(q22;q22;q24) is a novel variant of t(8;21) with chimeric transcripts of AML1-ETO in acute myelogenous leukemia..     ///    French-American-British M2) associated with AML1-ETO.     ///    Reverse transcription-polymerase chain reaction analysis for AML1-ETO chimeric transcripts showed the presence of the fusion product with the expected size. '), ('4976', 'RUNX1_ETO', 't(8;21) / ', 'RUNX1', 'ETO', '22613795', '82', 'acute myeloid leukemia;myeloproliferative disorder;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Here we show that wild-type MPL expression is increased in a fraction of human AML samples expressing RUNX1-ETO, a fusion protein created by chromosome translocation t(8;21), and that up-regulation of Mpl expression in mice induces AML when coexpressed with RUNX1-ETO.     ///    Mpl expression is not regulated by RUNX1-ETO in mouse hematopoietic progenitors or leukemic cells.     ///    Thrombopoietin/MPL participates in initiating and maintaining RUNX1-ETO acute myeloid leukemia via PI3K/AKT signaling.. '), ('4977', 'RAR_PL', 't(15;17)  / ', 'RAR', 'PL', '11068554', '82', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The fusion protein, promyelocytic leukemia-retinoic acid receptor (PML-RAR)alpha, generated by the t(15;17) translocation has an abnormal cellular distribution with colocalization of RARalpha and PML proteins. '), ('4978', 'MYH11_CBF', 't(8;21) / t(3;21) / inv(16) / ', 'MYH11', 'CBF', '8035830', '82', 'myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Since t(8;21), t(3;21), and inv(16), associated with myeloid leukemias, disrupt subunits of PEBP2/CBF, we speculate that the resulting oncoproteins, AML1-ETO, AML1-EAP, AML1-Evi1, and CBF beta-MYH11, inhibit early myeloid differentiation.. '), ('4979', 'ETO_AML1', '', 'ETO', 'AML1', '18315898', '82', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Furthermore, 8-CPT-cAMP exerted little influence on the expression of AML1-ETO fusion gene and its product in Kasumi-1 cells.     ///    \"q22), through which AML1 (acute myeloid leukemia 1) gene on chromosome 21 is fused with ETO (eight twenty-one) gene on chromosome 8, coding correspondent AML1-ETO fusion protein, which plays a crucial role in the leukemogenesis of AML-M(2b). \"    ///    \"Meanwhile, semi-quantity RT-PCR and Western blot assay were used to detect the degradation of AML1-ETO fusion protein in Kasumi-1 cells before and after the treatment. \"'), ('4980', 'HLF_E2A', 't(17;19) / ', 'HLF', 'E2A', '20062079', '82', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', 'Oncogene', '', '', '', '', '', 'To analyze the leukemogenic process and to create model mice for t(17;19)-positive leukemia, we generated inducible knock-in (iKI) mice for E2A-HLF.     ///     E2A-hepatic leukemia factor (HLF) is a chimeric protein found in B-lineage acute lymphoblastic leukemia (ALL) with t(17;19).     ///    \"Inverse PCR detected three common integration sites specific for E2A-HLF iKI leukemic mice, which induced overexpression of zinc-finger transcription factors: growth factor independent 1 (Gfi1), zinc-finger protein subfamily 1A1 isoform a (Zfp1a1, also known as Ikaros) and zinc-finger protein 521 (Zfp521). \"    ///    Identification of Zfp521/ZNF521 as a cooperative gene for E2A-HLF to develop acute B-lineage leukemia..     ///    \"Moreover, both iKI for E2A-HLF and transgenic for Zfp521 mice frequently developed B-lineage ALL. \"    ///    \"Despite the induced expression of E2A-HLF in the hematopoietic tissues, no disease was developed during the long observation period, indicating that additional gene alterations are required to develop leukemia. \"    ///    Virus infection induced acute leukemias in E2A-HLF iKI mice with higher morbidity and mortality than in control mice.     ///    \"To elucidate this process, E2A-HLF iKI and control littermates were subjected to retroviral insertional mutagenesis. \"'), ('4981', 'KIF5B_ALK', '', 'KIF5B', 'ALK', '19383809', '81', 'lung cancer\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Coupling of PCR-based detection to the iAEP method should further facilitate the rapid identification of novel ALK fusion genes such as KIF5B-ALK..     ///    Multiplex reverse transcription-PCR analysis of additional archival tumor specimens identified another case of lung adenocarcinoma positive for KIF5B-ALK.     ///    \"KIF5B-ALK, a novel fusion oncokinase identified by an immunohistochemistry-based diagnostic system for ALK-positive lung cancer.. \"'), ('4982', 'BCR_ABL1', 't(9;22) / t(9;22)  / ', 'BCR', 'ABL1', '17090304', '81', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Our data presented here describe for the first time an analysis of the biological function of the reciprocal t(9;22) ABL/BCR fusion proteins in comparison to their physiological counterpart BCR..     ///    \"BCR and its mutants, the reciprocal t(9;22)-associated ABL/BCR fusion proteins, differentially regulate the cytoskeleton and cell motility.. \"    ///    \"BCR and its mutants, the reciprocal t(9;22)-associated ABL/BCR fusion proteins, differentially regulate the cytoskeleton and cell motility. \"    ///    \"Depending on the breakpoint on chromosome 22 (the Philadelphia chromosome--Ph+) the derivative 9+ encodes either the p40(ABL/BCR) fusion transcript, detectable in about 65% patients suffering from chronic myeloid leukemia, or the p96(ABL/BCR) fusion transcript, detectable in 100% of Ph+ acute lymphatic leukemia patients. \"    ///    The ABL/BCRs are N-terminally truncated BCR mutants.     ///    \"We investigated the effects of BCR and ABL/BCRs i.) on the activation status of Rho, Rac and cdc42 in GTPase-activation assays. \"    ///    \"Here we show that both ABL/BCRs lost fundamental functional features of BCR regarding the regulation of small Rho-like GTPases with negative consequences on cell motility, in particular on the capacity to adhere to endothelial cells. \"    ///    \"We, therefore, compared the function of the ABL/BCR proteins with that of wild-type BCR. \"'), ('4983', 'LPP_HMGIC', 't(3;12)(q28;q14) / ', 'LPP', 'HMGIC', '9772904', '81', '', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'RT-PCR analysis showed expression of HMGIC/LPP and LPP/HMGIC fusion transcripts in this parosteal lipoma.     ///    \"Recently, we established that the genes HMGIC at 12q15 and LPP at 3q27-28 are affected by the 3;12-translocation and demonstrated that, as a direct result, HMGIC/LPP and LPP/HMGIC fusion transcripts are expressed in soft tissue lipomas. \"'), ('4984', 'TEL_AML1', 't(5;14)  / ', 'TEL', 'AML1', '12094248', '81', 'T ALL;leukemia\r\r', '', '', '', '', '', '', '', '', 'We describe immunophenotype of: B-lineage ALL with MLL rearrangements, TEL/AML1, BCR/ABL, E2A/PBX1 translocations, hyperdiploidy, and myc fusion genes. '), ('4985', 'IFNB2_CAT', '', 'IFNB2', 'CAT', '3045822', '81', '', '', '', '', '', '', '', '', '', 'Bacterial endotoxin did not activate this IFN-beta 2/CAT fusion gene in HeLa cells. '), ('4986', 'BCR_ABL1', '', 'BCR', 'ABL1', '22824785', '81', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'However, it has not been established whether SOCS2 is involved in CML, caused by the BCR/ABL1 fusion gene, or important for normal hematopoietic stem cell (HSC) function.     ///    SOCS2 is dispensable for BCR/ABL1-induced chronic myeloid leukemia-like disease and for normal hematopoietic stem cell function..     ///    \"Furthermore, by using a retroviral BCR/ABL1-induced mouse model of CML, we demonstrate that SOCS2 is dispensable for the induction and propagation of the disease, suggesting that the SOCS2-mediated feedback regulation of the JAK/STAT pathway is deficient in BCR/ABL1-induced CML.. \"'), ('4987', 'CALM_AF10', 't(10;11)(p13;q21) / t(10;11)  / ', 'CALM', 'AF10', '10221337', '81', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Mixed-lineage leukemia with t(10;11)(p13;q21): an analysis of AF10-CALM and CALM-AF10 fusion mRNAs and clinical features..     ///    The variety of breakpoints and splice sites in the two genes resulted in five different-sized AF10-CALM mRNAs and in four different-sized CALM-AF10 mRNAs. '), ('4988', 'TEL_MN1', 'p13;q11 / t(5;12)(q33;p13) / ', 'TEL', 'MN1', '11094079', '81', 'myeloid leukemia;leukemia;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The MN1-TEL fusion protein, encoded by the translocation (12;22)(p13;q11) in myeloid leukemia, is a transcription factor with transforming activity..     ///    \"By contrast to other chimeric proteins that contain TEL\'s PNT domain, such as TEL-platelet-derived growth factor beta receptor in t(5;12)(q33;p13), MN1-TEL contains the DBD of TEL. \"    ///    \"The N-terminal MN1 moiety is rich in proline residues and contains two polyglutamine stretches, suggesting that MN1-TEL may act as a deregulated transcription factor. \"    ///    The transactivating capacity of MN1-TEL depended on both the DBD of TEL and sequences in MN1.     ///    \"We now show that MN1-TEL type I, unlike TEL and MN1, transforms NIH 3T3 cells. \"    ///    MN1-TEL contributes to leukemogenesis by a mechanism distinct from that of other chimeric proteins containing TEL..     ///    \"Furthermore, we demonstrate that MN1 has transcription activity and that MN1-TEL acts as a chimeric transcription factor on the Moloney sarcoma virus long terminal repeat and a synthetic promoter containing TEL binding sites. \"'), ('4989', 'EVI1_CDK6', 't(3;7)(q26;q21) / ', 'EVI1', 'CDK6', '14551738', '81', 'acute myeloid leukemia;chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', '', '', 'Reverse transcriptase polymerase chain reaction (RT-PCR) analysis showed overexpression of EVI1 in both cases, but excluded the presence of any CDK6/ EVI1 fusion transcript. '), ('4990', 'RARA_PML', '', 'RARA', 'PML', '23627671', '81', '', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'In acute promyelocytic leukaemia (APL) patients with the long (L)-type promyelocytic leukaemia-retinoic acid receptor ? fusion gene (PML-RARA), three alternative splicing isoforms can be detected: E5(+)E6(+), E5(-)E6(+), and E5(-)E6(-).     ///    This study is the first to demonstrate that alternative splicing of L-type PML-RARA is associated with time to achieve complete remission (CR) in APL. '), ('4991', 'BCR_ABL1', '', 'BCR', 'ABL1', '25501026', '81', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The BCR-ABL1 fusion gene, encoding a constitutively active tyrosine kinase, is thought to be sufficient to cause chronic phase (CP) CML, whereas additional genetic lesions are needed for progression into CML BC.     ///    \"In primary mice, BCR-ABL1 expression induced an inflammatory-like state in the bone marrow and spleen, and mast cells were the only myeloid lineage specifically expanded by BCR-ABL1. \"    ///    \"To generate a humanized CML model, we retrovirally expressed BCR-ABL1 in the cord blood CD34(+) cells and transplanted these into NOD-SCID (non-obese diabetic/severe-combined immunodeficient) interleukin-2-receptor ?-deficient mice. \"'), ('4992', 'P40_P35', '', 'P40', 'P35', '10628673', '81', '', '', '', '', '', '', '', '', '', 'These observations suggest that FMDV 2A can exert its self-cleaving activity even in a heterologous system, and that biologically active, heterodimeric rpoIL-12 can be generated by monocistronic expression of the p35/p40 fusion gene in combination with the 2A sequence.. '), ('4993', 'EML4_ALK', '', 'EML4', 'ALK', '25695223', '81', 'pleural effusion', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Analysis of ERBB ligand-induced resistance mechanism to crizotinib by primary culture of lung adenocarcinoma with EML4-ALK fusion gene.. '), ('4994', 'TNXB_TNXA', '6p21.3 / ', 'TNXB', 'TNXA', '15639189', '80', 'congenital adrenal hyperplasia;congenital adrenal hyperplasia\r\r', '', '', '', '', '', '', '', '', ' Two types of chimeric RCCX modules found in chromosome 6p21.3 are the chimeras CYP21P/CYP21 and TNXA/TNXB.     ///    Chimeric CYP21P/CYP21 and TNXA/TNXB genes in the RCCX module..     ///    \"Therefore, chimeras CYP21P/CYP21 and TNXA/TNXB are two distinct hybrid genes produced in the RCCX module in HLA class III. \"    ///    \"The sequence organization of the gene array is C4A-CYP21P/CYP21-TNXB, whereas chimera TNXA/TNXB is caused by a CYP21 deletion, and a partial TNXB replaced by the TNXA gene shows the C4A-CYP21P-TNXA/TNXB sequence. \"    ///    \"In addition, the haplotype of CYP21 with chimera CYP21P/CYP21 causes 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH), while chimera TNXA/TNXB is associated with Ehlers-Danols syndrome as well as CAH.. \"'), ('4995', 'FUS_CREB3L2', 't(7;16)(q33p11) / ', 'FUS', 'CREB3L2', '17255901', '80', 'liposarcoma;dermatofibrosarcoma protuberans;fibrous histiocytoma;sarcoma;histiocytoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'The chimeric FUS/CREB3L2 gene seems to be specific for LGFMS and its expression in the t(7;16)(q33p11) is a useful tool for the differential diagnosis. '), ('4996', 'PBX1_E2A', 't(1;19)(q23;p13) / t(1;19)  / t(1;19) / ', 'PBX1', 'E2A', '9446665', '80', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', '', '', '', 'Transcription_Factor', '', '', 'The t(1;19) fuses E2A to PBX1 in more than 95% of cases and this molecular abnormality can be reliably identified by polymerase chain reaction (PCR)-mediated amplification of E2A-PBX1 chimeric mRNAs. '), ('4997', 'HLF_E2A', 't(17;19) / ', 'HLF', 'E2A', '11607821', '80', '', '', '', 'Oncogene', '', '', '', '', '', ' E2A-HLF, the chimeric fusion protein resulting from the leukemogenic translocation t(17;19), appears to employ evolutionarily conserved signaling cascades for its transforming and antiapoptotic functions.     ///    \"Moreover, E2A-HLF has been shown to activate SLUG, a mammalian homologue of the cell death specification protein CES-1 in Caenorhabditis elegans, which appears to regulate an evolutionarily conserved cell survival program. \"    ///    E2A-HLF usurps control of evolutionarily conserved survival pathways..     ///    \"In this review, we discuss the characteristics of both components of the fusion protein with regard to their contribution to the regulation of cell fate and the oncogenic potential of E2A-HLF.. \"'), ('4998', 'CYP21P_CYP21', '6p21.3 / ', 'CYP21P', 'CYP21', '15639189', '80', 'congenital adrenal hyperplasia;congenital adrenal hyperplasia\r\r', '', '', '', '', '', '', '', '', ' Two types of chimeric RCCX modules found in chromosome 6p21.3 are the chimeras CYP21P/CYP21 and TNXA/TNXB.     ///    Chimeric CYP21P/CYP21 and TNXA/TNXB genes in the RCCX module..     ///    \"The CYP21P-specific sequence of chimera CYP21P/CYP21 has the 5\'-end in common, but differs in the 3\'-end of CYP21-specific genes. \"    ///    \"The sequence organization of the gene array is C4A-CYP21P/CYP21-TNXB, whereas chimera TNXA/TNXB is caused by a CYP21 deletion, and a partial TNXB replaced by the TNXA gene shows the C4A-CYP21P-TNXA/TNXB sequence. \"    ///    \"In addition, the haplotype of CYP21 with chimera CYP21P/CYP21 causes 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH), while chimera TNXA/TNXB is associated with Ehlers-Danols syndrome as well as CAH.. \"    ///    \"Therefore, chimeras CYP21P/CYP21 and TNXA/TNXB are two distinct hybrid genes produced in the RCCX module in HLA class III. \"'), ('4999', 'TEL_AML1', 't(3;3) / t(8;14)(q24;q32) / ', 'TEL', 'AML1', '21738341', '80', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'The most common cytogenetic aberrations in acute myeloid leukemia patients was PML/PARA, followed by AML1/MGT8 and MLL1, and in acute lymphoid leukemia patients was BCR/ABL, followed by TEL/AML1 and MLL1 gene rearrangement. '), ('5000', 'FLI_EWS', 't(11;22)  / ', 'FLI', 'EWS', '17114343', '80', 'synovial sarcoma;liposarcoma;rhabdomyosarcoma;ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The t(11;22) encodes the EWS/FLI fusion oncoprotein.     ///    \"EWS/FLI functions as an aberrant transcription factor, but the key target genes that are involved in oncogenesis are largely unknown. \"    ///    \"By combining transcriptional profiling data from three of these lines, we identified a conserved transcriptional response to EWS/FLI. \"    ///    The gene that was most reproducibly up-regulated by EWS/FLI was NR0B1.     ///    NR0B1 is required for the oncogenic phenotype mediated by EWS/FLI in Ewing\'s sarcoma..     ///    These studies define a new role for NR0B1 in oncogenic transformation and emphasize the utility of analyzing the function of EWS/FLI in Ewing\'s sarcoma cells..     ///    We validated NR0B1 as an EWS/FLI-dysregulated gene and confirmed its expression in primary human tumor samples.     ///    \"To understand the function of EWS/FLI and its targets in a more clinically relevant system, we used retroviral-mediated RNAi to \"\"knock-down\"\" the fusion protein in patient-derived Ewing\'s sarcoma cell lines. \"'), ('5001', 'PEPCK_CAT', '', 'PEPCK', 'CAT', '10409689', '80', '', '', '', '', '', '', '', '', '', 'A dominant negative mutant of phosphoinositide (PI) 3-kinase blocked insulin inhibition of transcription of the PEPCK-CAT fusion gene, whereas a constitutively active mutant of PI 3-kinase mimicked the effect of insulin.     ///    \"Although a constitutively active mutant of Akt (protein kinase B) inhibited PEPCK-CAT gene transcription induced by dexamethasone and cAMP, a mutant Akt (Akt-AA) in which the phosphorylation sites targeted by insulin are replaced by alanine did not affect the ability of insulin to inhibit transcription of the fusion gene. \"    ///    \"Furthermore, neither a kinase-defective mutant protein kinase Clambda (PKClambda), which blocked insulin-induced activation of endogenous PKClambda, nor a dominant negative mutant of the small GTPase Rac prevented inhibition of PEPCK-CAT gene transcription by insulin. \"'), ('5002', 'PHF1_EP400', '', 'PHF1', 'EP400', '24285434', '80', 'endometrial stromal sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'RNA sequencing was performed in two index cases (OFMT1, OFMT3), negative for EP400-PHF1 fusions, followed by FusionSeq data analysis, a modular computational tool developed to discover gene fusions from paired-end RNA-seq data.     ///    \" PHF1 gene rearrangements have been recently described in around 50% of ossifying fibromyxoid tumors (OFMT) including benign and malignant cases, with a small subset showing EP400-PHF1 fusions. \"'), ('5003', 'TEL_AML1', 't(4;11) / t(11;19)  / t(9;22)  / ', 'TEL', 'AML1', '9359509', '80', '', '', '', '', '', '', '', '', '', 'In 14 of these cases (63%), TEL-AML1 expression was detected, whereas t(4;11), t(11;19) and t(9;22) translocations were found by molecular methods in only three cases (14%).     ///    The majority of myeloid-antigen-positive (My+) childhood B-cell precursor acute lymphoblastic leukaemias express TEL-AML1 fusion transcripts..     ///    Percentages of CD13 or CD33 expressing leukaemic cells were found to be higher in TEL-AML1 positive cases (n = 22) than in TEL-AML1 negative (n = 74) cases (P<0.001).     ///    These data show that TEL-AML1 expression is significantly associated with myeloid antigen expression by leukaemic cells and suggests that the prognostic significance of myeloid antigen expression in paediatric ALLs should be re-evaluated in the light of molecular cytogenetic markers..     ///    \"A molecular analysis of TEL-AML1, E2A-PBX1, MLL-AF4, BCR-ABL expression and an immunophenotypic study of CD13/CD33 myeloid antigen expression have been performed prospectively on tumour cells from 96 paediatric BCP-ALL patients. \"'), ('5004', 'SMMHC_CBF', 't(8;21) / inv(16) / t(15;17) / inv(16)  / t(15;17)  / t(8;21)  / ', 'SMMHC', 'CBF', '18977345', '80', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'In this study, Southeast Asian AML patients with a favorable karyotype including t(8;21)/AML-ETO, inv(16)(CBF beta/SMMHC), and t(15;17)/PML-RAR alpha were genotyped for KIT and FLT3 RTK mutations by PCR and sequencing. '), ('5005', 'EWSR1_CREB1', '', 'EWSR1', 'CREB1', '23199525', '80', 'fibrous histiocytoma;histiocytoma\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', '', 'Metastatic angiomatoid fibrous histiocytoma of the scalp, with EWSR1-CREB1 gene fusions in primary tumor and nodal metastasis..     ///    Reverse transcription-polymerase chain reaction showed EWSR1-CREB1 fusion transcripts in both primary and metastasis. '), ('5006', 'MALT1_API2', 't(11;18) (q21;q21) / ', 'MALT1', 'API2', '14603249', '80', 'MALT lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Stability and subcellular localization of API2-MALT1 chimeric protein involved in t(11;18) (q21;q21) MALT lymphoma..     ///    \"Western blot analysis showed that the products of API2 and MALT1 were unstable, while the API2-MALT1 product was stable. \"    ///    \"However, little is known about the characteristics of API2, MALT1, and API2-MALT1 proteins. \"    ///    \"Our findings further suggest that the stabilized expression of API2-MALT1 products may continuously stimulate the NF-kappaB activating pathway, thus leading to MALT lymphomagenesis.. \"    ///    \"API2 was localized in the nucleus and the cytoplasm, and MALT1 and API2-MALT1 in the cytoplasm only. \"    ///    \"These results indicate that the domains responsible for protein instability are located in the end of the C-terminal of API2 and in that of the N-terminal of MALT1, and also that API2-MALT1 became stable because it lacks these domains. \"    ///    \"q21) is a chromosomal aberration specific to low-grade mucosa-associated lymphoid tissue (MALT) lymphoma, and generates the chimeric product apoptosis inhibitor 2 (API2)-MALT1, which has been suggested to play an important role in MALT lymphomagenesis. \"'), ('5007', 'GLP1_GIP', 't(233)  / ', 'GLP1', 'GIP', '22105074', '80', '', '', '', '', '', '', '', '', '', 'Application of chimeric GLP-1/GIP peptides together with molecular modeling suggests that His(1) of GLP-1 interacts with Asn(302) of GLP1R and that Thr(7) of GLP-1 has close contact with a binding pocket formed by Ile(196), Leu(232), and Met(233) of GLP1R. '), ('5008', 'GLP1R_GIPR', 't(233)  / ', 'GLP1R', 'GIPR', '22105074', '80', '', '', '', '', '', 'Receptor', '', '', '', 'Here, using chimeric and point-mutated GLP1R/GIPR, we determined that evolutionarily conserved amino acid residues such as Ile(196) at transmembrane helix 2, Leu(232) and Met(233) at extracellular loop 1, and Asn(302) at extracellular loop 2 of GLP1R are responsible for interaction with ligand and receptor activation. '), ('5009', 'KIT_FLT3', 't(8;21) / inv(16) / t(15;17) / inv(16)  / t(15;17)  / t(8;21)  / ', 'KIT', 'FLT3', '18977345', '80', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'The combined frequency of KIT/FLT3 mutations in patients with t(8;21), inv(16) and t(15;17) was 35%, 18% and 41%. '), ('5010', 'BCR_ABL1', '', 'BCR', 'ABL1', '17701954', '79', 'acute lymphoblastic leukemia;chronic myeloid leukemia;myeloid leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The resulting fusion gene, BCR-ABL1, encodes for a chimerical oncoprotein (BCR-ABL) with constitutive tyrosine kinase activity, which leads to uncontrolled cell proliferation, reduced apoptosis, and impaired cell adhesion. '), ('5011', 'MYH11_CBFB', 'p13;q22 / inv(16)  / ', 'MYH11', 'CBFB', '8751466', '79', 'leukemia\r\r', '', '', '', '', '', '', '', '', ' The inversion(16)(p13;q22) gives rise to chimeric transcripts CBFB-MYH11.     ///    We report the study of CBFB and CBFB-MYH11 protein using two anti-CBFB antisera.     ///    The gene product of CBFB-MYH11.. '), ('5012', 'TEL_AML1', '', 'TEL', 'AML1', '16928306', '79', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', '[Immunophenotypic characteristics of children with acute lymphoblastic leukemia carrying TEL-AML1 fusion gene]..     ///    \" To investigate the immunological and other clinical characteristics in TEL/AML1+ childhood B-acute lymphoblastic leukemia (B-ALL), immunophenotyping was performed with three-color flow cytometry, and the expression of TEL-AML1 fusion gene was detected with nested RT-PCR. \"    ///    It is concluded that TEL-AML1 rearrangement is a frequent molecular abnormality in childhood ALL.     ///    \"The results showed that (1) among 119 children with B-ALL, 22 (18.5%) were TEL-AML1 positive and classified as L2 morphological subtype. \"'), ('5013', 'TLS_ERG', 't(16;21)(p11;q22) / t(16;21)  / ', 'TLS', 'ERG', '10523652', '79', 'acute myeloid leukemia;myeloid leukemia;leukemia;ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' The FUS (TLS)-ERG chimeric protein associated with t(16;21)(p11;q22) acute myeloid leukemia is structurally similar to the Ewing\'s sarcoma chimeric transcription factor EWS-ERG.     ///    We found that both FUS-ERG and EWS-ERG could induce anchorage-independent proliferation of the mouse fibroblast cell line NIH 3T3.     ///    \"In addition, we identified three cellular genes whose expression was altered by ectopic expression of FUS-ERG and found that these are regulated in either a TR1-dependent or a TR2-dependent manner. \"    ///    \"However, only FUS-ERG was able to inhibit the differentiation into neutrophils of a mouse myeloid precursor cell line L-G and induce its granulocyte colony-stimulating factor-dependent growth. \"    ///    We constructed several deletion mutants of FUS-ERG lacking a part of the N-terminal FUS region.     ///    These results suggest that FUS-ERG may activate two independent oncogenic pathways during the leukemogenic process by modulating the expression of two different groups of genes simultaneously.. '), ('5014', 'MLLT1_MLL', 't(11;19) / ', 'MLLT1', 'MLL', '17252016', '79', 'leukemia\r\r', '', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'Spliced MLL fusions: a novel mechanism to generate functional chimeric MLL-MLLT1 transcripts in t(11;19)(q23;p13.3) leukemia.. '), ('5015', 'RARA_PML', 't(15;17)(q22;q11) / ', 'RARA', 'PML', '23823097', '79', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The cytogenetic analysis of BM cells demonstrated t(15;17)(q22;q11), and PML-RARA chimeric gene was detected by reverse transcriptase-polymerase chain reaction assay. '), ('5016', 'RUNX1_EVI1', 't(3;21)  / ', 'RUNX1', 'EVI1', '17894555', '79', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' The RUNX1/EVI1 chimeric transcription factor produced by t(3;21) causes leukemic transformation in hematopoietic stem cell tumors, possibly through a differentiation block of malignant myeloid progenitors.     ///    \"To further investigate the molecular mechanisms of RUNX1/EVI1-mediated differentiation block, we analyzed RUNX1/EVI1\'s effect on the functions of CCAAT-enhancer binding protein alpha (C/EBPalpha), a key transcriptional regulator that induces granulocytic differentiation. \"    ///    \"By using a reporter assay with the CEBPA promoter, we observed a dominant negative effect of RUNX1/EVI1 over C/EBPalpha-mediated transcriptional activation via the carboxyl terminal-binding protein (CtBP)-binding site in the EVI1 portion. \"    ///    \"Therefore, recruitment of histone deacetylase via CtBP and disruption of DNA binding could be likely scenarios for the RUNX1/EVI1-induced dominant repression on C/EBPalpha. \"    ///    \"In a gel-shift assay, RUNX1/EVI1 downregulated the DNA-binding activity of C/EBPalpha. \"    ///    All of these data argue that inhibition of C/EBPalpha function may be causatively related to the leukemogenic potential of RUNX1/EVI1..     ///    RUNX1/EVI1 was found to associate with C/EBPalpha.     ///    \"Importantly, coexpression of C/EBPalpha restored the differentiation ability of the RUNX1/EVI1-expressing LG-3 cells. \"    ///    \"We introduced RUNX1/EVI1 cDNA into LG-3 cells that differentiate along the myeloid lineage upon exposure to granulocyte colony stimulating factor, and confirmed that RUNX1/EVI1 suppressed the differentiation. \"    ///    \"RUNX1/EVI1, which blocks myeloid differentiation, inhibits CCAAT-enhancer binding protein alpha function.. \"'), ('5017', 'PTH_PRAD1', 't(11;14) / ', 'PTH', 'PRAD1', '7687458', '79', 'parathyroid adenoma', '', '', '', '', '', '', '', '', 'We also report the sequence of DNAs spanning joining regions of a reciprocal parathyroid hormone/PRAD1 gene rearrangement in a parathyroid adenoma. '), ('5018', 'MALT1_API2', 't(11;18)(q21;q21) / ', 'MALT1', 'API2', '15184680', '79', 'MALT lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'MALT lymphomas are characterized genetically by the t(11;18)(q21;q21) translocation, which yields chimeric transcripts encoding structurally distinct API2/MALT1 fusion proteins.     ///    \"Using microchip gene expression analysis, we demonstrate that different forms of the API2/MALT1 proteins activate both unique and overlapping gene programs in cells. \"    ///    \"Collectively, these data reveal previously unknown functional diversity among API2/MALT1 fusion products and their function in NF-kappaB signaling as it connects to the apoptotic program, a pathway with strong relevance to cancer. \"    ///    \"In addition to this genome reprogramming, expression of distinct API2/MALT1 fusion products inhibits DNA damage-induced, p53-mediated apoptosis in an NF-kappaB-dependent manner. \"    ///    \"In this study, we provide functional evidence for the contribution of API2/MALT1 fusion proteins to transformation of cells in culture by activating the NF-kappaB pathway through a RelB/p50 dimer. \"'), ('5019', 'EWS_ERG', 't(16;21)(p11;q22) / t(16;21)  / ', 'EWS', 'ERG', '10523652', '79', 'acute myeloid leukemia;myeloid leukemia;leukemia;ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' The FUS (TLS)-ERG chimeric protein associated with t(16;21)(p11;q22) acute myeloid leukemia is structurally similar to the Ewing\'s sarcoma chimeric transcription factor EWS-ERG.     ///    \"Although EWS intrinsically possessed the TR2 domain, the EWS-ERG construct employed lacked the EWS sequence containing this domain. \"    ///    We found that both FUS-ERG and EWS-ERG could induce anchorage-independent proliferation of the mouse fibroblast cell line NIH 3T3. '), ('5020', 'ETO_AML1', 't(8;21) / t(8;21)  / ', 'ETO', 'AML1', '23836985', '79', 'acute myeloid leukemia;myeloid leukemia;leukemia;retinoblastoma\r\r', '', '', '', '', '', '', '', '', ' The chimeric fusion protein, AML1-ETO, generated by translocation of t(8;21), abnormally recruits histone deacetylase (HDAC) to the promoters of AML1 target genes, resulting in transcriptional repression of the target genes and development of t(8;21) acute myeloid leukemia. '), ('5021', 'SEPT9_ABL1', '', 'SEPT9', 'ABL1', '25217890', '79', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Functional analysis of the SEPT9-ABL1 chimeric fusion gene derived from T-prolymphocytic leukemia..     ///    These findings demonstrated that SEPT9-ABL1 had oncogenic activity and conferred resistance to TKIs.     ///    \"Additionally, these SEPT9-ABL1 isoforms were resistant to TKIs in vitro and in vivo, in comparison to BCR-ABL1. \"    ///     We analyzed the function of a SEPT9-ABL1 fusion identified in a case of T-prolymphocytic leukemia with tyrosine kinase inhibitor (TKI) resistance. '), ('5022', 'EWS_CHN', 't(9;17)(q22;q11) / t(9;22)(q22;q12) / t(9;22)  / t(9;17)  / ', 'EWS', 'CHN', '10602519', '78', 'chondrosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Whereas the t(9;22) is known to result in fusion of the CHN (TEC) gene from 9q22 with the EWS gene from 22q12, creating a chimeric EWS/CHN, the genes involved in the t(9;17) of EMC are unknown. '), ('5023', 'TEL_AML1', '', 'TEL', 'AML1', '17922427', '78', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Samples of bone marrow or peripheral blood were collected from 95 newly diagnosed ALL children and the TEL-AML1 fusion gene was detected using nested reverse transcription-polymerase chain reaction (RT-PCR).     ///     To determine the incidence of TEL-AML1 fusion gene in childhood acute lymphoblastic leukemia (ALL) and to compare the clinical features between TEL-AML1 positive and negative patients.     ///    The incidence of TEL-AML1 fusion gene in cases of ALL is 21.05%.     ///    \"The load of leukemia cells in TEL-AML1 positive patients is significantly smaller than its counterparts, and the blast cells in TEL-AML1 positive patients are more sensitive to prednisone, indicating childhood ALL with TEL-AML1 fusion gene has a favorable prognosis.. \"    ///    The ALL patients were stratified into TEL-AML1 positive and negative groups and the clinical features were compared.     ///    Bone marrow examination on day 15 showed no difference in the rate of complete remission between TEL-AML1 positive and negative patients.     ///    \"The prednisone sensitivity test showed that all 12 TEL-AML1 positive patients were good responders, while there were 11 prednisone poor responders among 40 negative patients (27.50%, P < 0.05). \"    ///    \"Among 95 patients, 20 (21.05%) were TEL-AML1 positive. \"    ///    The median age of TEL-AML1 positive patients was 5.9 years old and M/F ratio was 1.22:1.     ///    There were significant differences between TEL-AML1 positive and negative patients in hepatomegaly (2.75 cm vs.     ///    [Comparative study on clinical features between TEL-AML1 positive and negative childhood acute lymphoblastic leukemia].. ');
INSERT INTO `ChimerPub_dump` VALUES ('5024', 'SYT_SSX1', '', 'SYT', 'SSX1', '15641030', '78', 'synovial sarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', 'The SYT/SSX1 fusion gene is associated with more aggressive tumor growth and poor outcome.     ///    SYT/SSX1 translocations are seen in nearly three times as many synovial sarcomas as SYT/SSX2 translocations.     ///    HER-2/neu expression by immunohistochemistry in synovial sarcomas was restricted to tumors with the SYT/SSX1 translocations.     ///    \"EGFR and HER-2/neu are expressed in the majority of patients with SYT/SSX1 synovial sarcomas, albeit at low levels. \"    ///    \"Although the SYT/SSX2 fusion is usually associated with the monophasic disease pattern, the SYT/SSX1 fusion is present in tumors with biphasic or monophasic patterns. \"'), ('5025', 'MALT1_API2', 't(11;18)(q21;q21) / t(1;14)(p22;q32) / t(14;18)(q32;q21) / t(11;18)  / ', 'MALT1', 'API2', '16572204', '78', 'MALT lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'We recently demonstrated that API2-MALT1 can induce transactivation of the API2 gene through NF-kappaB activation, thus highlighting a positive feedback-loop mechanism of self-activation by upregulating its own expression in t(11;18) MALT lymphomas.     ///    \" At least three recurrent chromosomal translocations, t(11;18)(q21;q21), t(1;14)(p22;q32), t(14;18)(q32;q21), involving the API2-MALT1 fusion protein, BCL10 and MALT1, have been implicated in the pathogenesis of mucosa-associated lymphoid tissue (MALT) lymphoma. \"    ///    \"These findings therefore led us to hypothesize that the antiapoptotic effect by API2-MALT1 may be mediated by its interaction with apoptotic regulators, on the one hand, and by NF-kappaB-mediated upregulation of apoptotic inhibitor genes on the other. \"    ///    \"We also demonstrated that API2-MALT1 possesses an antiapoptotic effect, in part, through its direct interaction with apoptotic regulators. \"    ///    Molecular pathogenesis of MALT lymphoma: two signaling pathways underlying the antiapoptotic effect of API2-MALT1 fusion protein..     ///    \"Several lines of evidence indicated that both BCL10 and MALT1 are required for nuclear factor kappa B (NF-kappaB) activation by antigen receptor stimulation in lymphocytes, and API2-MALT1 can bypass this BCL10/MALT1 signaling pathway. \"'), ('5026', 'IL22RA2_CCDC28A', '', 'IL22RA2', 'CCDC28A', '23698072', '78', '', 'PCR', '', '', '', '', '', '', '', 'Five gene fusions were identified, of which two, CCDC28A-IL22RA2 and AIG1-GOSR1, both in SeAx, were in the same orientation and were expressed at the messenger RNA level. '), ('5027', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '23797277', '78', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'After chemotherapy and radiotherapy, the tumor morphologically and immunohistochemically showed marked cytodifferentiation, whereas the exact same PAX3-FKHR chimeric fusion gene transcript was detected in samples before and after treatment.     ///    Therapeutic cytodifferentiation in alveolar rhabdomyosarcoma  without genetic change of the PAX3-FKHR chimeric fusion gene:  a case study.. '), ('5028', 'MLLT1_MLL', 't(11;19) / t(9;22)(q34;q11) / ', 'MLLT1', 'MLL', '20513125', '78', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'Mixed phenotype acute leukemia with t(11;19)(q23;p13.3)/ MLL-MLLT1(ENL), B/T-lymphoid type: A first case report.. '), ('5029', 'GOSR1_AIG1', '', 'GOSR1', 'AIG1', '23698072', '78', '', 'PCR', '', '', '', '', '', '', '', 'Five gene fusions were identified, of which two, CCDC28A-IL22RA2 and AIG1-GOSR1, both in SeAx, were in the same orientation and were expressed at the messenger RNA level. '), ('5030', 'NPM_ALK', 't(2;5)  / ', 'NPM', 'ALK', '12401829', '77', 'anaplastic large cell lymphoma;lymphoma;lymphoproliferative disorder\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The NPM-ALK fusion transcript associated with the t(2;5) translocation was detected by reverse transcription polymerase chain reaction. '), ('5031', 'FUS_DDIT3', '', 'FUS', 'DDIT3', '15201968', '77', 'chondrosarcoma;synovial sarcoma;liposarcoma;fibrous histiocytoma;sarcoma;histiocytoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', ' The DOL54 gene [also known as megakaryocyte stimulating factor, articular superficial zone protein (SZP) or proteoglycan 4 (PRG4)], was cloned as a downstream target gene of the FUS-DDIT3 chimera, which is the fusion gene that characterizes myxoid liposarcoma (MLS).     ///    The results of our study clearly show that expression of DOL54 is not only a characteristic feature of MLS with the FUS-DDIT3 chimera but that this is a frequent finding also in various other sarcomas..     ///    Expression of DOL54 is not restricted to myxoid liposarcomas with the FUS-DDIT3 chimera but is found in various sarcomas.. '), ('5032', 'NPM_ALK', 't(2;5)(p23;q35) / ', 'NPM', 'ALK', '9736036', '77', 'anaplastic large cell lymphoma;T cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' The t(2;5)(p23;q35) translocation associated with CD30-positive anaplastic large cell lymphoma results in the production of a NPM-ALK chimeric protein, consisting of the N-terminal portion of the NPM protein joined to the entire cytoplasmic domain of the neural receptor tyrosine kinase ALK.     ///    \"These findings, which have not been previously emphasized, strongly suggest that the neoplastic lesion (the NPM-ALK gene) must be present both in the large anaplastic and small tumor cells, and that ALK-positive lymphomas lie on a spectrum, their position being defined by the ratio of small to large neoplastic cells. \"'), ('5033', 'TEL_MN1', 't(12;22)  / t(12;22)(p12;q11) / ', 'TEL', 'MN1', '16810199', '77', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' MN1-TEL is the product of the recurrent t(12;22)(p12;q11) associated with human myeloid malignancies.     ///    \"MN1-TEL, the product of the t(12;22) in human myeloid leukemia, immortalizes murine myeloid cells and causes myeloid malignancy in mice.. \"    ///    \"MN1-TEL functions as an activated transcription factor, exhibiting weak transforming activity in NIH3T3 fibroblasts that depends on the presence of a functional TEL DNA-binding domain, the N-terminal transactivating sequences of MN1 and C-terminal sequences of MN1. \"    ///    \"We infer that MN1-TEL is a hematopoietic oncogene that stimulates the growth of hematopoietic cells, but depends on secondary mutations to cause leukemia in mice.. \"    ///    We determined the transforming activity of MN1-TEL in mouse bone marrow (BM) by using retroviral transfer. '), ('5034', 'NPM_ALK', 't(2;5)(p23;q35) / ', 'NPM', 'ALK', '10842190', '77', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' A variable fraction of anaplastic large-cell lymphomas (ALCLs) exhibits a t(2;5)(p23;q35) translocation that results in expression of the chimeric hyperphosphorylated protein NPM-ALK (p80). '), ('5035', 'RAP1GDS1_NUP98', 't(4;11)(q21;p15) / ', 'RAP1GDS1', 'NUP98', '10477737', '76', 'acute myeloid leukemia;T ALL;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', 'KB', '', 'In the NUP98-RAP1GDS1 fusion transcript (abbreviated as NRG), the 5\' end of the NUP98 gene is joined in frame to the coding region of the RAP1GDS1 gene. '), ('5036', 'BCL2_BAX', 'del(9p)  / ', 'BCL2', 'BAX', '23569402', '76', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'A DNA index < 1.16 was associated with increased BAX/BCL-2, both at diagnosis and at remission, and the del(9p) chromosome abnormality with increased BAX/BCL-2 at remission.     ///    Enhanced levels of the apoptotic BAX/BCL-2 ratio in children with acute lymphoblastic leukemia and high-risk features..     ///    \"At diagnosis, increased levels of the apoptotic BAX/BCL-2 ratio were observed in children older than 10 years and with higher white blood cell counts. \"'), ('5037', 'RAF1_BCL6', '', 'RAF1', 'BCL6', '23637631', '76', 'leukemia;breast cancer;lung cancer;melanoma;sarcoma;colon cancer;pancreatic cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'From these, we validated and further characterized novel gene fusions involving ROS1 tyrosine kinase in angiosarcoma (CEP85L/ROS1), SLC1A2 glutamate transporter in colon cancer (APIP/SLC1A2), RAF1 kinase in pancreatic cancer (ATG7/RAF1) and anaplastic astrocytoma (BCL6/RAF1), EWSR1 in melanoma (EWSR1/CREM), CDK6 kinase in T-cell acute lymphoblastic leukemia (FAM133B/CDK6), and CLTC in breast cancer (CLTC/VMP1). '), ('5038', 'EWSR1_ATF1', 't(12;22)(q13;q12) / ', 'EWSR1', 'ATF1', '17227118', '76', 'clear cell sarcoma;melanoma;sarcoma\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Most cases show a reciprocal cytogenetic translocation t(12;22)(q13;q12) that creates a unique chimeric fusion EWSR1/ATF1 gene transcript. '), ('5039', 'MYH11_CBFB', '', 'MYH11', 'CBFB', '15044690', '76', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' Acute myeloid leukemia subtype M4 with eosinophilia is associated with a chromosome 16 inversion that creates a fusion gene CBFB-MYH11.     ///    We have previously shown that CBFB-MYH11 is necessary but not sufficient for leukemogenesis.     ///    \"Here, we report the identification of genes that specifically cooperate with CBFB-MYH11 in leukemogenesis. \"'), ('5040', 'BCR_ABL1', '', 'BCR', 'ABL1', '19135771', '76', 'hematologic malignancy;hematologic malignancy\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The P190 and P210 BCR/ABL1 fusion genes are mainly associated with different types of hematologic malignancies, but it is presently unclear whether they are functionally different following expression in primitive human hematopoietic cells.     ///    \"Our data suggest that the early cellular and transcriptional effects of P190 BCR/ABL1 and P210 BCR/ABL1 expression are very similar when they are expressed in the same human progenitor cell population, and that STAT5 is an important regulator of BCR/ABL1-induced erythroid cell expansion.. \"    ///    Gene expression profiling revealed that P190 BCR/ABL1 and P210 BCR/ABL1 induced almost identical gene expression profiles.     ///    Expression of P190 and P210 BCR/ABL1 in normal human CD34(+) cells induces similar gene expression profiles and results in a STAT5-dependent expansion of the erythroid lineage..     ///    \"Under in vitro conditions favoring B-cell differentiation, neither P190 nor P210 BCR/ABL1-expressing cells formed detectable levels of CD19-positive cells. \"    ///    Expression of either P190 BCR/ABL1 or P210 BCR/ABL1 resulted in expansion of erythroid cells and stimulated erythropoietin-independent burst-forming unit-erythroid colony formation.     ///    \"By using a lentiviral anti-signal transducer and activator of transcription 5 (STAT5) short-hairpin RNA, we found that both P190 BCR/ABL1- and P210 BCR/ABL1-induced erythroid cell expansion were STAT5-dependent. \"    ///    \"We investigated and systematically compared the effects of retroviral P190 BCR/ABL1 and P210 BCR/ABL1 expression on cell proliferation, differentiation, and global gene expression in human CD34(+) cells from cord blood. \"'), ('5041', 'FLI_EWS', 't(11;22)(q24;q12) / t(11;22)  / ', 'FLI', 'EWS', '7506981', '76', 'neuroectodermal tumor;ewing sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Detection of EWS/FLI-1 fusion transcripts by RT-PCR therefore provides a novel adjunctive tool in the diagnosis of pPNETs..     ///    Reverse transcriptase PCR amplification of EWS/FLI-1 fusion transcripts as a diagnostic test for peripheral primitive neuroectodermal tumors of childhood..     ///    \"To this end, we have tested pPNETs for the presence of EWS/FLI-1 fusion transcripts by reverse transcriptase-polymerase chain reaction (RT-PCR) using EWS and FLI-1 specific primers. \"'), ('5042', 'ROS1_CEP85L', '', 'ROS1', 'CEP85L', '23637631', '76', 'leukemia;breast cancer;lung cancer;melanoma;sarcoma;colon cancer;pancreatic cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'From these, we validated and further characterized novel gene fusions involving ROS1 tyrosine kinase in angiosarcoma (CEP85L/ROS1), SLC1A2 glutamate transporter in colon cancer (APIP/SLC1A2), RAF1 kinase in pancreatic cancer (ATG7/RAF1) and anaplastic astrocytoma (BCL6/RAF1), EWSR1 in melanoma (EWSR1/CREM), CDK6 kinase in T-cell acute lymphoblastic leukemia (FAM133B/CDK6), and CLTC in breast cancer (CLTC/VMP1). '), ('5043', 'NUP98_LEDGF', 't(9;11)(p22;p15) / ', 'NUP98', 'LEDGF', '11737860', '76', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'A NUP98-LEDGF fusion transcript was observed and confirmed by sequencing. '), ('5044', 'FAM133B_CDK6', '', 'FAM133B', 'CDK6', '23637631', '76', 'leukemia;breast cancer;lung cancer;melanoma;sarcoma;colon cancer;pancreatic cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', 'Seq', 'From these, we validated and further characterized novel gene fusions involving ROS1 tyrosine kinase in angiosarcoma (CEP85L/ROS1), SLC1A2 glutamate transporter in colon cancer (APIP/SLC1A2), RAF1 kinase in pancreatic cancer (ATG7/RAF1) and anaplastic astrocytoma (BCL6/RAF1), EWSR1 in melanoma (EWSR1/CREM), CDK6 kinase in T-cell acute lymphoblastic leukemia (FAM133B/CDK6), and CLTC in breast cancer (CLTC/VMP1). '), ('5045', 'EWSR1_CREM', '', 'EWSR1', 'CREM', '23637631', '76', 'leukemia;breast cancer;lung cancer;melanoma;sarcoma;colon cancer;pancreatic cancer\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'From these, we validated and further characterized novel gene fusions involving ROS1 tyrosine kinase in angiosarcoma (CEP85L/ROS1), SLC1A2 glutamate transporter in colon cancer (APIP/SLC1A2), RAF1 kinase in pancreatic cancer (ATG7/RAF1) and anaplastic astrocytoma (BCL6/RAF1), EWSR1 in melanoma (EWSR1/CREM), CDK6 kinase in T-cell acute lymphoblastic leukemia (FAM133B/CDK6), and CLTC in breast cancer (CLTC/VMP1). '), ('5046', 'RAF1_ATG7', '', 'RAF1', 'ATG7', '23637631', '76', 'leukemia;breast cancer;lung cancer;melanoma;sarcoma;colon cancer;pancreatic cancer\r\r', '', 'Kinase', '', '', '', 'Transcription_Factor', '', '', 'From these, we validated and further characterized novel gene fusions involving ROS1 tyrosine kinase in angiosarcoma (CEP85L/ROS1), SLC1A2 glutamate transporter in colon cancer (APIP/SLC1A2), RAF1 kinase in pancreatic cancer (ATG7/RAF1) and anaplastic astrocytoma (BCL6/RAF1), EWSR1 in melanoma (EWSR1/CREM), CDK6 kinase in T-cell acute lymphoblastic leukemia (FAM133B/CDK6), and CLTC in breast cancer (CLTC/VMP1). '), ('5047', 'MTAP_CDKN2A', '', 'MTAP', 'CDKN2A', '26672768', '76', 'osteosarcoma;sarcoma\r\r', '', 'Kinase', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', 'Seq', '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. '), ('5048', 'SLC1A2_APIP', '', 'SLC1A2', 'APIP', '23637631', '76', 'leukemia;breast cancer;lung cancer;melanoma;sarcoma;colon cancer;pancreatic cancer\r\r', '', '', '', '', '', '', '', '', 'From these, we validated and further characterized novel gene fusions involving ROS1 tyrosine kinase in angiosarcoma (CEP85L/ROS1), SLC1A2 glutamate transporter in colon cancer (APIP/SLC1A2), RAF1 kinase in pancreatic cancer (ATG7/RAF1) and anaplastic astrocytoma (BCL6/RAF1), EWSR1 in melanoma (EWSR1/CREM), CDK6 kinase in T-cell acute lymphoblastic leukemia (FAM133B/CDK6), and CLTC in breast cancer (CLTC/VMP1). '), ('5049', 'RUNX1_ETV6', 't(12;21)(p13;q22) / ', 'RUNX1', 'ETV6', '24121163', '76', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' The reciprocal translocation t(12;21)(p13;q22), the most common structural genomic alteration in B-cell precursor acute lymphoblastic leukaemia in children, results in a chimeric transcription factor TEL-AML1 (ETV6-RUNX1).     ///    \"In summary, this work for the first time gives a comprehensive insight into how TEL-AML1 expression may directly and indirectly contribute to alter cells to become prone for leukemic transformation. \"    ///    The impact of TEL-AML1 (ETV6-RUNX1) expression in precursor B cells and implications for leukaemia using three different genome-wide screening methods..     ///    \"By integration of promoter binding identified with chromatin immunoprecipitation (ChIP)-on-chip, gene expression and protein output through microarray technology and stable labelling of amino acids in cell culture, we identified 217 directly and 118 indirectly regulated targets of the TEL-AML1 fusion protein. \"    ///    We identified directly and indirectly regulated target genes utilizing an inducible TEL-AML1 system derived from the murine pro B-cell line BA/F3 and a monoclonal antibody directed against TEL-AML1. '), ('5050', 'PEX5_LPL', 't(8;12) / ', 'PEX5', 'LPL', '22782350', '76', 'squamous cell carcinoma\r\r', 'PCR', '', '', '', '', '', '', '', 'Forced overexpression of wild-type LPL and PEX5-LPL fusion transcripts resulted in increased invasiveness in cervical SCC cells, attributable to the C-terminal non-catalytic domain of LPL, which was retained in the fusion transcripts.     ///    \"Whereas LPL-PEX5 was expressed at low levels and contained a premature stop codon, PEX5-LPL was highly expressed and encoded a full-length chimeric protein (including the majority of the LPL coding region). \"'), ('5051', 'EML4_ALK', '10p11.22 / ', 'EML4', 'ALK', '22797671', '75', 'papillary adenocarcinoma', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', '            The fusion genes were detected exclusively with other mutations, such as EGFR,             Kras, Braf, erbB2 mutations, and EML4/ALK fusion.     ///    The cinicopathological             backgrounds of the KIF5B/RET fusion-positive patients were similar with those             of the EML4/ALK fusion-positive patients. '), ('5052', 'EWSR1_DDIT3', 't(12;22)(q13;q12) / ', 'EWSR1', 'DDIT3', '22570737', '75', 'liposarcoma;sarcoma\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', '', 'EWSR1-DDIT3 is a chimeric fusion protein generated by the myxoid liposarcoma-specific chromosomal translocation t(12;22)(q13;q12).     ///    Myxoid liposarcoma-associated EWSR1-DDIT3 selectively represses osteoblastic and chondrocytic transcription in multipotent mesenchymal cells.    ///    Myxoid liposarcoma-associated EWSR1-DDIT3 selectively represses osteoblastic and chondrocytic transcription in multipotent mesenchymal cells..     ///    \"Another possible mechanism is an epigenetic action of EWSR1-DDIT3, which enhances histone deacetylation, DNA methylation, and histone H3K9 trimethylation at the transcriptional repression site. \"    ///    The mechanism whereby EWSR1-DDIT3 contributes to the phenotypic selection of target cells during oncogenic transformation remains to be elucidated.     ///    This study elucidates the molecular mechanisms underlying EWSR1-DDIT3 fusion protein-mediated phenotypic selection of putative target multipotent mesenchymal cells during myxoid liposarcoma development.     ///    \"Reporter assays showed that the EWSR1-DDIT3 myxoid liposarcoma fusion protein, but not its wild-type counterparts EWSR1 and DDIT3, selectively repressed the transcriptional activity of cell lineage-specific marker genes in multipotent mesenchymal C3H10T1/2 cells. \"    ///    \"The first is a genetic action of the EWSR1-DDIT3 fusion protein, which results in binding to the functional C/EBP site within Opn and Col11a2 promoters through interaction of its DNA-binding domain and subsequent interference with endogenous C/EBP? function. \"'), ('5053', 'MTG8_AML1', 't(8;21) / ', 'MTG8', 'AML1', '9150886', '75', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' In order to design the best construct for therapeutic hammerhead ribozymes against AML1-MTG8, the t(8;21)-associated fusion mRNA of acute myeloid leukemia, we synthesized DNA/RNA chimeric ribozymes directed to the area adjacent to the fusion point between AML1 and MTG8.     ///    \"Catalytic efficiency and fusion gene specificity of ribozymes were examined by kinetic studies of the cleavage reactions of AML1-MTG8, AML1, and MTG8 RNAs transcribed in vitro. \"'), ('5054', 'TEL_PTPRR', 'inv(12)(p13q13) / ', 'TEL', 'PTPRR', '16061641', '75', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Cloning and characterization of the novel chimeric gene TEL/PTPRR in acute myelogenous leukemia with inv(12)(p13q13)..     ///    \"After cytokine depletion, phosphorylated signal transducers and activators of transcription 3 (STAT3) significantly declined in mock cells, but remained in both tTEL- and TEL/PTPRR-overexpressing cells. \"    ///    \"Importantly, overexpression of TEL/PTPRR in granulocyte macrophage colony-stimulating factor-dependent UT7/GM cells resulted in their factor-independent proliferation, whereas overexpression of tTEL did not. \"    ///    TEL/PTPRR did not exhibit any tyrosine phosphatase activity.     ///    Two isoforms that were expressed at the highest level in the leukemic cells could have been translated into COOH-terminally truncated TEL protein possessing the helix-loop-helix domain (tTEL) and TEL/PTPRR chimeric protein linking the helix-loop-helix domain of TEL to the catalytic domain of PTPRR. '), ('5055', 'NPM_ALK', 't(2;5) / t(2;5) (p23;q35) / t(2;5)  / ', 'NPM', 'ALK', '9449486', '75', 'anaplastic large cell lymphoma;lymphoma;lymphoproliferative disorder\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'The t(2;5)-associated p80 NPM/ALK fusion protein in nodal and cutaneous CD30+ lymphoproliferative disorders..     ///    \" A high percentage of extracutaneous CD30+ anaplastic large cell lymphomas (nodal ALCL) carry a specific chromosomal translocation, t(2;5) (p23;q35), that results in abnormal expression of p80 NPM/ALK chimeric protein (p80). \"    ///    \"In this exceptional cutaneous lesion, although we did not find NPM/ALK by RT-PCR, we detected strong expression of ALK using ALK1. \"'), ('5056', 'NPM_ALK', 't(2;5)(p23;q35) / t(2;5)  / ', 'NPM', 'ALK', '23666701', '75', 'anaplastic large cell lymphoma;lymphoma\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'We describe a long-range nested PCR assay to detect NPM/ALK gene rearrangements..     ///    \"NPM/ALK, as well as ALK activation via other molecular abnormalities, plays an important role in the pathogenesis of ALCL. \"'), ('5057', 'EWSR1_ATF1', 't(12;22)(q13;q12) / ', 'EWSR1', 'ATF1', '15588860', '75', 'clear cell sarcoma;melanoma;sarcoma\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', ' Malignant melanoma of soft parts (MMSP), also called clear cell sarcoma of tendons and aponeuroses, is cytogenetically characterized by the t(12;22)(q13;q12) resulting in the chimeric EWSR1/ATF1 gene.     ///    \"Eight MMSP with an EWSR1/ATF1 chimeric transcript, one soft tissue metastasis of a malignant melanoma of the skin, and one malignant melanoma cell line were examined. \"'), ('5058', 'FGFR2_CREB5', '', 'FGFR2', 'CREB5', '25384085', '75', '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. '), ('5059', 'PPL_NTRK1', '', 'PPL', 'NTRK1', '25384085', '75', '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. '), ('5060', 'BCR_ABL1', 't(9;22) / t(12;21)(p13;q22) / ', 'BCR', 'ABL1', '21822204', '75', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'BCR-ABL1, t(12;21)(p13;q22). '), ('5061', 'TRIM4_BRAF', '', 'TRIM4', 'BRAF', '25384085', '75', 'thyroid carcinoma;cholangiocarcinoma;lung cancer\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', '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. '), ('5062', 'MLL_AFF1', 't(4;11)(q21;q23) / t(4;11) / ', 'MLL', 'AFF1', '23349309', '75', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', 'KB', 'Seq', ' The biology and outcome of adult t(4;11)(q21;q23)/MLL-AFF1 acute lymphoblastic leukemia are poorly understood.     ///    \"The clinical characteristics, therapy and outcome of 85 adults with acute lymphoblastic leukemia and t(4;11)(q21;q23)/MLL-AFF1 prospectively treated in the UKALLXII/ECOG2993 trial.. \"'), ('5063', 'TNFAIP3_OLIG3', '2p16.1 / ', 'TNFAIP3', 'OLIG3', '19240061', '75', '', '', '', '', '', '', '', '', '', 'We identified two novel coeliac disease risk regions: 6q23.3 (OLIG3-TNFAIP3) and 2p16.1 (REL), both of which reached genome-wide significance in the combined analysis of all 2987 cases and 5273 controls (rs2327832 p = 1.3 x 10(-08), and rs842647 p = 5.2 x 10(-07)). '), ('5064', 'FUT6_FUT3', '19p13.3 / 19p13.1 / ', 'FUT6', 'FUT3', '23300138', '75', 'hepatocellular cancer', '', '', '', '', '', '', '', 'Seq', 'The analyses showed association peaks on three genetic loci for CA19-9 (FUT6-FUT3 at 19p13.3, FUT2-CA11 at 19q13.3 and B3GNT3 at 19p13.1. '), ('5065', 'ROS1_MSN', '', 'ROS1', 'MSN', '25384085', '75', 'thyroid carcinoma;cholangiocarcinoma;lung cancer\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', '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. '), ('5066', 'RUFY2_RET', '', 'RUFY2', 'RET', '25384085', '75', 'thyroid carcinoma;cholangiocarcinoma;lung cancer\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', '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. '), ('5067', 'SOD_CTP', '', 'SOD', 'CTP', '20518344', '75', '', 'PCR', '', '', '', '', '', '', '', 'In this study, CTP-SOD fusion gene was amplified from human cDNA by PCR, and the active recombinant protein was successfully expressed in Pichia pastoris.     ///    [Expression and purification of fusion protein CTP-SOD in Pichia pastoris and antioxidant capacity analysis]..     ///    \"HeLa cells pretreated with CTP-SOD showed a significantly improved survival against the pyrogallol-induced oxidative stress, suggesting CTP-SOD could cross the cell membrane more efficiently and protect cells from oxidative stress.. \"'), ('5068', 'TPM3_NTRK1', '', 'TPM3', 'NTRK1', '25384085', '75', 'thyroid carcinoma;cholangiocarcinoma;lung cancer\r\r', 'PCR', 'Kinase', '', '', '', '', 'KB', 'Seq', '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. '), ('5069', 'BCR_ABL1', 't(9;22)  / ', 'BCR', 'ABL1', '22372202', '75', 'lymphoblastic leukemia', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Specific subsets of MPAL are defined by chromosomal anomalies such as the t(9;22) Philadelphia chromosome BCR-ABL1 or involvement of the MLL gene on chromosome 11q23. '), ('5070', 'MALT1_API2', 't(11;18) / t(1;14) / t(14;18) / ', 'MALT1', 'API2', '15540895', '75', 'MALT lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', ' Three distinct chromosomal translocations, t(11;18), t(1;14), and t(14;18), involving the API2-MALT1 fusion protein, BCL10, and MALT1 have been convincingly implicated in the pathogenesis of mucosa-associated lymphoid tissue (MALT) lymphomas.     ///    \"We also have provided direct evidence that API2-MALT1 can exert an antiapoptotic effect, in part through its direct interaction with apoptotic regulators. \"    ///    We therefore hypothesize that the antiapoptotic effect of API2-MALT1 may be mediated by the interaction with apoptotic regulators as well as by the up-regulation of apoptotic inhibitor genes.     ///    \"API2-MALT1 can bypass the BCL10/MALT1 pathway linking to NF-kappaB activation, thereby inducing antigen receptor-independent events of lymphocytes. \"'), ('5071', 'VAMP2_NRG1', '', 'VAMP2', 'NRG1', '25384085', '75', 'thyroid carcinoma;cholangiocarcinoma;lung cancer\r\r', 'PCR', '', '', '', '', '', '', '', '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. '), ('5072', 'MLL_AF4', 't(4;11) / ', 'MLL', 'AF4', '20237425', '75', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'We recently reported that ectopic expression of miR-128b together with miR-221, two of the miRNAs downregulated in MLL-AF4 ALL, restores glucocorticoid resistance through downregulation of the MLL-AF4 chimeric fusion proteins MLL-AF4 and AF4-MLL that are generated by chromosomal translocation t(4;11). '), ('5073', 'TEL_AML1', 't(12;21)(p12;q22) / ', 'TEL', 'AML1', '15235109', '75', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The t(12;21)(p12;q22) chromosomal aberration, which is frequently observed in pediatric precursor B-cell acute lymphoblastic leukemia (ALL), generates the TEL/AML1 chimeric gene and protein.     ///    TEL/AML1 overcomes drug resistance through transcriptional repression of multidrug resistance-1 gene expression..     ///    \"In this study, we show that the TEL/AML1 protein binds to the consensus AML1 binding site in the MDR-1 promoter and transcriptionally represses its activity. \"    ///    \"Thus, TEL/AML1 protein acts as a transcriptional repressor of MDR-1 gene expression, and although TEL/AML1 has been implicated in leukemogenesis, its effects on the MDR-1 gene may contribute to the excellent prognosis of TEL/AML1-positive ALL with current therapy.. \"    ///    \"Following transient transfection of TEL/AML1 protein into Adriamycin-resistant K562/Adr cells, we also demonstrate that TEL/AML1 can down-regulate the expression of P-glycoprotein, a product of the MDR-1 gene, and restore the chemosensitivity to the cells. \"    ///    \"Furthermore, we report that MDR-1 mRNA levels in leukemic cells obtained from TEL/AML1-positive ALL patients are lower than those from TEL/AML1-negative ALL patients. \"    ///    \"thus, we examined whether TEL/AML1 also represses MDR-1 gene expression, possibly preventing the emergence of multidrug resistance. \"    ///    \"TEL/AML1-positive ALL has a favorable prognosis, and one possible reason is that this subtype of ALL rarely shows drug resistance. \"'), ('5074', 'FUT2_CA11', '19p13.3 / 19p13.1 / ', 'FUT2', 'CA11', '23300138', '75', 'hepatocellular cancer', '', '', '', '', '', '', '', '', 'The analyses showed association peaks on three genetic loci for CA19-9 (FUT6-FUT3 at 19p13.3, FUT2-CA11 at 19q13.3 and B3GNT3 at 19p13.1. '), ('5075', 'IGH_BCL2', 't(11;14) / t(14;18) / ', 'IGH', 'BCL2', '17438702', '75', 'non Hodgkin lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Multiplex PCR for the detection of BCL-1/IGH and BCL-2/IGH gene rearrangements--clinical validation in a prospective study of blood and bone marrow in 258 patients with or suspected of non-Hodgkin\'s lymphoma..     ///    BCL-2/IGH: 17/37).     ///    BCL-2/IGH: 23/37).     ///    \" We have designed a multiplex PCR, which allows for fast and high throughput demonstration of the BCL-1/IGH and BCL-2/IGH fusion DNA observed primarily in mantle cell- and follicular non-Hodgkin\'s lymphoma (NHL). \"'), ('5076', 'EML4_ALK', '', 'EML4', 'ALK', '24935562', '74', 'adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We also identified 8 patients who harbored the EML4-ALK fusion gene (8.7%, 8/92).    ///    The serum CEA level before the initial treatment may be helpful in screening population for EGFR mutations or EML4-ALK fusion gene presence in lung adenocarcinoma patients..     ///    Our purpose was to analyze clinical features and prognostic value of EGFR gene mutations and the EML4-ALK fusion gene in lung adenocarcinoma.     ///    \"In addition, the frequency of the EML4-ALK fusion gene among patients with a serum CEA concentration below 5 ng/ml seemed to be higher than patients with a concentration over 5 ng/ml (P=0.021). \"    ///    EGFR gene mutations and the EML4-ALK fusion gene were detected in 92 lung adenocarcinoma patients in China.     ///    \"We also identified 8 patients who harbored the EML4-ALK fusion gene (8.7%, 8/92). \"    ///    Serum carcinoembryonic antigen levels before initial treatment are associated with EGFR mutations and EML4- ALK fusion gene in lung adenocarcinoma patients..     ///    Epidermal growth factor receptor (EGFR) mutations and echinoderm microtubule associated protein like 4-anaplastic lymphoma kinase (EML4-ALK) define specific molecular subsets of lung adenocarcinomas with distinct clinical features.    ///     Epidermal growth factor receptor (EGFR) mutations and echinoderm microtubule associated protein like 4-anaplastic lymphoma kinase (EML4-ALK) define specific molecular subsets of lung adenocarcinomas with distinct clinical features. '), ('5077', 'SYT_SSX', '', 'SYT', 'SSX', '27069481', '74', 'synovial sarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', 'In vitro, the SYT-SSX fusion gene transcript was detected in both synovial sarcoma cells and microvesicles.     ///    \"RNA-content was analyzed by qPCR, nested PCR, nested qPCR, and droplet digital PCR to compare their sensitivity for detection of the SYT-SSX fusion gene transcript. \"    ///    Synovial Sarcoma Microvesicles Harbor the SYT-SSX Fusion Gene Transcript: Comparison of Different Methods of Detection and Implications in Biomarker Research..     ///    Nested qPCR proved to be the most sensitive in detecting the SYT-SSX fusion gene mRNA.     ///    Synovial sarcoma cells release microvesicles harboring the SYT-SSX fusion transcript.     ///    This study examines the presence of the SYT-SSX fusion transcript in synovial sarcoma microvesicles as well as its potential role as a biomarker for synovial sarcoma. '), ('5078', 'EIF2AK1_ATR', '', 'EIF2AK1', 'ATR', '24012641', '74', 'prostate cancer\r\r', '', 'Kinase', '', '', '', '', '', '', 'The fusion genes EIF2AK1-ATR and GLYR1-SLC9A8 were predicted to be damaging and oncogenic. '), ('5079', 'TEL_AML1', '', 'TEL', 'AML1', '27014980', '74', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'She relapsed with detectable TEL-AML1 fusion gene even after chemotherapy and donor leukocyte infusions.     ///    An 11-year-old girl with TEL-AML1 fusion gene positive BALL who suffered a bone marrow relapse 28 months after remission from conventional chemotherapy.     ///    \"However, the TEL-AML1 copies in her blood still increased and she died with leukemia relapse after additional CAR-T cell infusion. \"'), ('5080', 'SLC9A8_GLYR1', '', 'SLC9A8', 'GLYR1', '24012641', '74', 'prostate cancer\r\r', '', '', '', '', '', '', '', '', 'The fusion genes EIF2AK1-ATR and GLYR1-SLC9A8 were predicted to be damaging and oncogenic. '), ('5081', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '24495450', '74', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Promising results have also been seen with the use of the fusion gene TMPRSS2:ERG and with various forms of the urokinase plasminogen activation receptor. '), ('5082', 'ETO_AML1', 't(8;21)(q22;q22) / t(8;21)  / t(8;21) / ', 'ETO', 'AML1', '8980370', '74', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'In studies using the reverse transcriptase polymerase chain reaction in two patients, including the patient in whom karytypic analysis was not performed, the AML1-ETO fusion product of t(8;21) was identified. '), ('5083', 'SYT_SSX', '', 'SYT', 'SSX', '17197923', '74', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'To confirm the diagnosis of synovial sarcoma, we evaluated several immunohistochemical markers, or detected SYT-SSX fusion gene transcript.     ///    SYT-SSX fusion gene transcript was detected in 39 patients.     ///    \"In our series, SYT-SSX fusion type was found to have no correlation with histologic subtype, prognosis, or dysadherin expression. \"'), ('5084', 'NTRK3_ETV6', '', 'NTRK3', 'ETV6', '25492889', '74', 'fibrosarcoma;sarcoma\r\r', '', 'Kinase', '', '', '', '', 'KB', 'Seq', 'A reverse transcription polymerase chain reaction assay was performed to detect the gene fusion ETV6-NTRK3 transcript. '), ('5085', 'NPM_ALK', 't(2;5)  / t(2;5) / ', 'NPM', 'ALK', '8562933', '73', 'anaplastic large cell lymphoma;lymphoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'NPM-ALK gene rearrangements were detected in all RT-PCR, NPM-ALK-positive ALCL by Southern blot analysis.     ///    \"To investigate the presence and the precise frequency of NPM-ALK gene products among ALCL and HD cases, a large and well-characterized panel of ALCL (n = 49) and HD (n = 72) cases was studied using multiple strategies including reverse transcriptase-polymerase chain reaction (RT-PCR), Southern blot analysis, and immunohistochemistry. \"    ///    \"Overall, 6 (3 T and 3 null) of 49 ALCL and 3 (2 nodular sclerosis and 1 mixed cellularity) of 72 HD showed the presence of NPM-ALK transcripts by RT-PCR. \"    ///    \"Our data show that NPM-ALK gene transcripts are identified in a subpopulation of ALCL, almost exclusively in T or null cell in origin, and in rare cases of HD. \"'), ('5086', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '11920209', '73', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Functional G-CSF pathways in t(8;21) leukemic cells allow for differentiation induction and degradation of AML1-ETO..     ///    \"In M2 AML, the t(8;21) translocation, CBFalpha (AML1) is altered and produced as the AML1-ETO fusion protein. \"    ///    \"Furthermore, differentiation induction leads to a subsequent degradation of the AML1-ETO oncoprotein. \"    ///    \"Interestingly, AML1-ETO leukemic cell lines are sensitive to numerous cytokines in vitro and can be induced to differentiate in the presence of G-CSF and PMA. \"'), ('5087', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '22821767', '73', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', ' Detection of fusion gene TMPRSS2:ERG transcripts in urine have been recently described in order to refine urine-based detection of prostate cancer (PCa), but data its clinical impact remain scarce.     ///    \"Integration of levels TMPRSS2:ERG transcripts in urine, with PCA3-score, androgenic status, genetic status and traditional clinical variables could significantly increase detection of high risk localized PCa.. \"    ///    \"Univariate and multivariate analysis by logistic regression model (logit) were conducted to study the correlation of TMPRSS2:ERG status, PCA3, and PSA density with biopsy results, and Gleason score. \"    ///    TMPRSS2:ERG was detected by urine assay (Progensa?).     ///    \"PCA3 score, PSA density and TMPRSS2:ERG-score were correlated with presence of PCa (P?<?0.0001, P?=?0.046, and P?<?0.0001, respectively). \"    ///    \"We aimed at investigating the correlation of TMPRSS2:ERG, prostate cancer antigen 3 (PCA3), prostate specific antigen (PSA) density, genetic variants, and androgenic status with outcome and pathological findings at prostatic biopsy. \"'), ('5088', 'MSF_MLL', 't(11;17)(q23;q25) / ', 'MSF', 'MLL', '12095151', '72', 'acute myeloid leukemia', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Examination of his leukemic cells at diagnosis revealed an MLL gene rearrangement, by Southern blotting, and an MLL-MSF fusion transcript, by the reverse transcriptase polymerase chain reaction (RT-PCR) method.     ///    Further clinical and molecular analyses of acute leukemias with the MLL-MSF transcript may shed more light on the clinical characteristics and molecular mechanisms of the MLL-septin type leukemias.. '), ('5089', 'EML4_ALK', '', 'EML4', 'ALK', '22986231', '72', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The EML4-ALK fusion gene encodes a chimeric tyrosine kinase that activates the Ras signaling pathway, and this fusion protein is found in approximately 5% of NSCLC.     ///    We present the clinicopathologic features of three patients with metastatic NSCLC harboring the EML4-ALK translocation that developed isolated central nervous system (CNS) metastases in the presence of good disease control elsewhere in the body.     ///    \"While understanding molecular mechanisms of resistance is critical to overcome therapeutic resistance, understanding physiologic mechanisms of resistance through analyzing anatomic patterns of failure may be equally crucial to improve long-term survival for patients with EML4-ALK translocation positive NSCLC.. \"    ///    Isolated central nervous system progression on Crizotinib: an Achilles heel of non-small cell lung cancer with EML4-ALK translocation?.     ///    \"Targeting EML4-ALK with Crizotinib in this subset of NSCLC has documented therapeutic efficacy, but the vast majority of patients eventually develop recurrent disease that is often refractory to further treatments.\"    ///    Results of ongoing clinical trials will clarify whether the CNS is a major sanctuary site for EML4-ALK positive NSCLC being treated with Crizotinib.     ///    \"Targeting EML4-ALK with Crizotinib in this subset of NSCLC has documented therapeutic efficacy, but the vast majority of patients eventually develop recurrent disease that is often refractory to further treatments. \"'), ('5090', 'EWS_ERG', 't(11;22)(q24;q12) / t(21;22)(q22;q12) / ', 'EWS', 'ERG', '8605035', '72', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Furthermore, the expression of EWS/FLI-1 or EWS/ERG chimeric genes was found to be generated through a t(11;22)(q24;q12) or a t(21;22)(q22;q12) translocation. '), ('5091', 'FLI_EWS', 't(11;22)(q24;q12) / t(21;22)(q22;q12) / ', 'FLI', 'EWS', '8605035', '72', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Furthermore, the expression of EWS/FLI-1 or EWS/ERG chimeric genes was found to be generated through a t(11;22)(q24;q12) or a t(21;22)(q22;q12) translocation. '), ('5092', 'CD33_CD13', 't(12;21)  / ', 'CD33', 'CD13', '11699224', '72', '', '', '', '', '', '', '', '', '', 'A correlation between CD13/CD33 positivity and the t(12;21) translocation was uniformly observed in B-ALL patients for a positive threshold of 30%, whereas SJ1D1/D3HL60 detected no correlation between t(12;21) and CD13/CD33 positivity when the threshold was lowered to 20%. '), ('5093', 'P21_P11', '1p36.2 / 8p11.2 / del(8) / ', 'P21', 'P11', '2141669', '71', '', '', '', '', '', '', '', '', '', 'We now show that the ankyrin gene maps to chromosome 8p11.2, and that one copy is missing from DNA of two unrelated children with severe HS and heterozygous deletions of chromosome 8 (del(8)(p11-p21.1)). '), ('5094', 'SYK_ITK', 't(5;9)(q33;q22) / ', 'SYK', 'ITK', '19535334', '71', 'T cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' ITK-SYK, a novel fusion tyrosine kinase (FTK) resulting from a recurrent t(5;9)(q33;q22), was recently identified in a poorly understood subset of peripheral T-cell lymphomas.     ///    \"Together, these findings identify ITK-SYK as an active, transforming FTK dependent upon PH domain-mediated membrane localization, identify a novel mechanism for activation of an oncogenic FTK, and suggest ITK-SYK as a rational therapeutic target for t(5;9)(q33;q22)-positive lymphomas.. \"    ///    Here we demonstrate that ITK-SYK is a catalytically active tyrosine kinase that is sensitive to an established inhibitor of SYK.     ///    \"Introduction of a well characterized loss-of-function mutation (R29C) into the PH domain of ITK-SYK inhibited its phosphorylation, markedly reduced its catalytic activity, and abrogated its ability to activate the ERK signaling pathway and to transform NIH3T3 cells. \"    ///    \"The expression of ITK-SYK, but not SYK, transformed NIH3T3 cells, inducing loss of contact inhibition and formation of anchorage-independent colonies in soft agar, in a kinase activity-dependent manner. \"    ///    \"However, the biochemical and functional properties of ITK-SYK are unknown. \"    ///    \"Consistent with a model in which ITK-SYK requires PH domain-mediated binding to phosphatidylinositol 3,4,5-trisphosphate generated by phosphatidylinositol 3-kinase (PI3K), ITK-SYK activity was reduced by pharmacological inhibition of PI3K and increased by co-expression with a constitutively active form of PI3K. \"    ///    \"ITK-SYK is unusual among FTKs in having an N-terminal phosphatidylinositol 3,4,5-trisphosphate-binding pleckstrin homology (PH) domain. \"    ///    The lymphoma-associated fusion tyrosine kinase ITK-SYK requires pleckstrin homology domain-mediated membrane localization for activation and cellular transformation.. '), ('5095', 'WT2_BWS', '11p15.5 / ', 'WT2', 'BWS', '10607831', '71', 'polycystic kidney', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Identification and characterization of MTR1, a novel gene with homology to melastatin (MLSN1) and the trp gene family located in the BWS-WT2 critical region on chromosome 11p15.5 and showing allele-specific expression.. '), ('5096', 'PAX3_FKHR', 't(2;13)(q35;q14) / ', 'PAX3', 'FKHR', '9858583', '71', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' The chimeric transcription factor Pax3-FKHR, produced by the t(2;13)(q35;q14) chromosomal translocation in alveolar rhabdomyosarcoma, consists of the two Pax3 DNA binding domains (paired box and homeodomain) fused to the C-terminal forkhead (FKHR) sequences that contain a potent transcriptional activation domain.     ///    Our results demonstrate that the integrity of the Pax3 homeodomain recognition helix and the FKHR transactivation domain is necessary for efficient cellular transformation by the Pax3-FKHR fusion protein..     ///    Mutational analysis revealed that both the third alpha-helix of the homeodomain and a small region of the FKHR transactivation domain are absolutely required for efficient transformation by the Pax3-FKHR fusion protein.     ///    The oncogenic potential of the Pax3-FKHR fusion protein requires the Pax3 homeodomain recognition helix but not the Pax3 paired-box DNA binding domain..     ///    \"To determine which of these domains are required for cellular transformation, Pax3, Pax3-FKHR, and selected mutants were retrovirally expressed in NIH 3T3 cells and evaluated for their capacity to promote anchorage-independent cell growth. \"'), ('5097', 'BCL2_IG', '', 'BCL2', 'IG', '7539660', '71', 'hematologic malignancy', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'All three of these lymphomas harbored the bcl-2-Ig fusion gene associated with the chromosomal translocation t (14;18).     ///    \"Conversely, only 27% of lymphomas that possessed the bcl-2-Ig gene were found to express the APO-1/Fas antigen. \"'), ('5098', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '8499624', '71', 'leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'An AML1/ETO fusion transcript is consistently detected by RNA-based polymerase chain reaction in acute myelogenous leukemia containing the (8;21)(q22;q22) translocation.. '), ('5099', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '26280815', '71', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Assessment of long-term outcomes associated with urinary prostate cancer antigen 3 and TMPRSS2:ERG gene fusion at repeat biopsy..     ///    \" In men with clinically localized prostate cancer who have undergone at least 1 previous negative biopsy and have elevated serum prostate-specific antigen (PSA) levels, long-term health outcomes associated with the assessment of urinary prostate cancer antigen 3 (PCA3) and the transmembrane protease, serine 2 (TMPRSS2):v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG) gene fusion (T2:ERG) have not been investigated previously in relation to the decision to recommend a repeat biopsy. \"'), ('5100', 'GEP_ARF', 't(555) / ', 'GEP', 'ARF', '11226253', '71', '', '', '', '', '', '', '', '', '', 'The ARF-GEP(100) Sec7 domain contains Asp(543) and Met(555), corresponding to residues associated with sensitivity to the inhibitory effect of the fungal metabolite brefeldin A (BFA) in yeast Sec7, but also Phe(535) and Ala(536), associated with BFA-insensitivity.     ///    \"No similar coincidence of ARF-GEP(100) with AP-1, AP-2, catenin, LAMP-1, or 58K was observed. \"    ///    \"ARF-GEP(100), a guanine nucleotide-exchange protein for ADP-ribosylation factor 6.. \"    ///    The coarse punctate distribution of EEA-1 in regions nearer the nucleus appeared to coincide with that of ARF-GEP(100) in those areas.     ///    \"Consistent with its structure, ARF-GEP(100) activity was not affected by BFA or phospholipids. \"    ///    \"ARF-GEP(100) accelerated [(35)S]GTPgammaS binding to ARF1 (class I) and ARF5 (class II) 2- to 3-fold, and to ARF6 (class III) ca. \"    ///    \"On Northern blot analysis of human tissues, a approximately 8-kb mRNA that hybridized with an ARF-GEP(100) cDNA was abundant in peripheral blood leukocytes, brain, and spleen. \"    ///    \"After subcellular fractionation of cultured T98G human glioblastoma cells, ARF6 was almost entirely in the crude membrane fraction, whereas ARF-GEP(100), a 100-kDa protein detected with antipeptide antibodies, was cytosolic. \"'), ('5101', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23213079', '71', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Comparative assessment of urinary prostate cancer antigen 3 and TMPRSS2:ERG gene fusion with the serum [-2]proprostate-specific antigen-based prostate health index for detection of prostate cancer..     ///    \" We compared urinary prostate cancer antigen 3 (PCA3), transmembrane protease, serine 2 (TMPRSS2):v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG) gene fusion (T2:ERG), and the serum [-2]proprostate-specific antigen ([-2]proPSA)-based prostate health index (Phi) for predicting biopsy outcome. \"'), ('5102', 'LQT5_KCNE1', '11p15.5 / ', 'LQT5', 'KCNE1', '10953551', '71', '', '', '', '', '', '', '', '', '', 'Specific mutant gene is responsible for function of K channels and it is located on short branch (part) of the 11-th pair of chromosome 11p15.5 (KVLQT-LQT1), long branch of the 7-th pair of chromosomes 7q35-36 (K- HERG-LQT2), as well as on the 21-st pair of chromosome (KCNE1-LQT5). '), ('5103', 'SYT_SSX2', 'p11;q11 / ', 'SYT', 'SSX2', '11433527', '70', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'It has been shown that patients with SYT/SSX1 fusion genes have a shorter metastasis-free survival than do patients with SYT/SSX2.     ///    \"Combining cytogenetic complexity and transcript data, we found that the subgroup of patients with tumors showing simple karyotypes and SYT/SSX2 fusion had the best clinical outcome (2/8 patients developed metastases), and those with tumors showing complex karyotypes together with SYT/SSX1 fusion the worst (6/7 patients developed metastases). \"    ///    \"Two patients had variant SYT/SSX2 transcripts, with 57 bp and 141 bp inserts, respectively, between the known SYT and SSX2 sequences. \"    ///    \"The reciprocal transcripts SSX1/SYT and SSX2/SYT were detected using nested PCR in 11 of the 40 samples with SYT/SSX1 and 5 of the 23 samples with SYT/SSX2, respectively. \"    ///    Tumors with SYT/SSX2 less often (4/12 vs.     ///    \"SYT/SSX1 was found in 40 tumors from 33 patients, SYT/SSX2 in 23 tumors from 20 patients, and SYT/SSX4 in one case. \"    ///    \"Among 20 blood samples, SYT/SSX1 and SYT/SSX2 were detected in one sample each. \"    ///    Patients with tumors with SYT/SSX1 fusions had a higher risk of developing metastases compared to those with SYT/SSX2 fusions (P = 0.01).     ///    \"This translocation results in rearrangements of the SYT gene in 18q11 and one of the SSX1, SSX2, or SSX4 genes in Xp11, creating a SYT/SSX1, SYT/SSX2, or SYT/SSX4 chimeric gene. \"'), ('5104', 'MYH11_CBF', 't(8;21)(q22;22) / inv(16)(p13q22) / t(8;21)  / inv(16)  / t(16;16)  / inv(16) / ', 'MYH11', 'CBF', '11167739', '70', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Cytogenetically cryptic AML1-ETO and CBF beta-MYH11 gene rearrangements: incidence in 412 cases of acute myeloid leukaemia..     ///    We present here a four centre study involving 412 cases of AML screened using both standard cytogenetics and RT-PCR for AML1-ETO and CBF beta-MYH11. '), ('5105', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '18358509', '70', 'prostate cancer', '', '', '', '', '', '', 'KB', 'Seq', 'The role of AR signalling has also been highlighted by the fusion gene TMPRSS2:ERG recently identified in the majority of PCa. '), ('5106', 'PAX3_NCOA2', 't(2;2)  / t(2;8)  / t(2;13)(q35;q14) / t(1;13)(p36;q14) / t(2;2)(p23;q35) / t(2;8)(q35;q13) / ', 'PAX3', 'NCOA2', '19953635', '70', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', 'KB', '', 'These studies (1) expand our knowledge of PAX3 variant translocations in RMS with identification of a novel PAX3-NCOA2 fusion, (2) show that both PAX3-NCOA1 and PAX3-NCOA2 represent recurrent RMS rearrangements, (3) confirm the transforming activity of both translocation events and demonstrate the essentiality of intact AD2 and CID domains for optimal transforming activity, and (4) provide alternative approaches (FISH and RT-PCR) for detecting PAX-NCOA fusions in nondividing cells of RMS.     ///    \"To investigate the biological function of these recurrent variant translocations, the coding regions of PAX3-NCOA1 and PAX3-NCOA2 cDNA constructs were introduced into expression vectors with tetracycline-regulated expression. \"    ///    \"The PAX3-NCOA1 and PAX3-NCOA2 transcripts encode chimeric proteins composed of the paired-box and homeodomain DNA-binding domains of PAX3, and the CID domain, the Q-rich region, and the activation domain 2 (AD2) domain of NCOA1 or NCOA2. \"    ///    \"The PAX3-NCOA1 and PAX3-NCOA2 transcripts encode chimeric proteins composed of the paired-box and homeodomain DNA-binding domains of PAX3, and the CID domain, the Q-rich region, and the activation domain 2 (AD2) domain of NCOA1 or NCOA2.\"'), ('5107', 'TEL_AML1', '', 'TEL', 'AML1', '14978794', '70', 'leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'We sought to examine this further by examination of blood spots in rare cases of MLL fusion-positive or ETV6/RUNX1 (TEL-AML1) fusion gene-positive acute leukemia that were diagnosed at ages beyond the normal age range. '), ('5108', 'ZC3H7B_BCOR', 't(7;17)(p15;q21) / p11;q13 / t(1;6)  / ', 'ZC3H7B', 'BCOR', '23580382', '70', 'endometrial stromal sarcoma;sarcoma\r\r', 'PCR', '', '', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', '', 'Reciprocal multiple BCOR-ZC3H7B cDNA fragments were amplified in only one case suggesting that ZC3H7B-BCOR, on the der(22)t(X;22), is the pathogenetically important fusion gene.     ///    \"Whether or not the (patho)genetic subsets JAZF1-SUZ12, PHF1 rearrangements, and ZC3H7B-BCOR correspond to any phenotypic, let alone clinically important, differences in ESS remain unknown.. \"    ///    \"The putative ZC3H7B-BCOR protein would contain the tetratricopeptide repeats and LD motif from ZC3H7B and the AF9 binding site (1093-1233aa), the 3 ankyrin repeats (1410-1509 aa), and the NSPC1 binding site of BCOR. \"'), ('5109', 'PBX1_E2A', 't(1;19)  / t(1;19) / ', 'PBX1', 'E2A', '1672117', '70', 'leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'In this study, an antiserum to Pbx1 was used to investigate the identity and abundance of E2A-Pbx1 fusion proteins in both the pre-B ALL cell line, 697, and in cryopreserved leukemic bone marrow cells, obtained from six children with t(1;19)-positive pre-B ALL.     ///    \"They encode the putative fusion proteins, p85(E2A-Pbx1) and p77(E2A-Pbx1), which differ in Pbx1 sequences alone, containing unique carboxyl termini whose sequences diverge after the Pbx1 homeo box. \"'), ('5110', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '9108090', '70', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', ' Acute promyelocytic leukemia (APL) is associated with the t(15;17) translocation, which generates a PML/RAR alpha fusion protein between PML, a growth suppressor localized on nuclear matrix-associated bodies, and RAR alpha, a nuclear receptor for retinoic acid (RA).     ///    \"Thus, RA and arsenic target RAR alpha and PML, respectively, but both induce the degradation of the PML/RAR alpha fusion protein, which should contribute to their therapeutic effects. \"'), ('5111', 'TFG_GPR128', '', 'TFG', 'GPR128', '19797732', '70', '', '', '', '', '', 'Receptor', '', 'KB', 'Seq', 'Targeted array comparative genomic hybridization to identify cryptic oncogenic fusion genes in patients with atypical myeloproliferative neoplasms identified a 111 kb amplification with breakpoints within the TRK-fused gene (TFG, a target of translocations in lymphoma and thyroid tumors) and G-protein-coupled receptor 128 (GPR128) resulting in an expressed in-frame TFG-GPR128 fusion transcript.     ///    \"In individuals with a copy number variant amplification, one or two copies of the TFG-GPR128 fusion are found between the two parental genes. \"'), ('5112', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '19147089', '70', 'essential thrombocythemia;primary myelofibrosis;pure red cell aplasia', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' 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. '), ('5113', 'NPM_ALK', 't(2;5)(p32;q35) / ', 'NPM', 'ALK', '19531656', '70', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' Constitutive expression of the chimeric NPM/ALK fusion protein encoded by the t(2;5)(p32;q35) is a key oncogenic event in the pathogenesis of most anaplastic large cell lymphomas (ALCLs).     ///    A subset of the proteins distinguished NPM/ALK-positive ALCLs from NPM/ALK-negative ALCLs and Hodgkin lymphoma.     ///    The multiple NPM/ALK-deregulated pathways identified by MS analysis also predicted novel biologic effects of NPM/ALK expression.     ///    MS-based findings were confirmed using Western blotting and/or immunostaining of NPM/ALK-transfected cells and ALK-deregulated lymphomas.     ///    The proteomic signature of NPM/ALK reveals deregulation of multiple cellular pathways..     ///    \"In this regard, we showed loss of cell adhesion as a consequence of NPM/ALK expression in a kinase-dependent manner, and sensitivity of NPM/ALK-positive ALCLs to inhibition of the RAS, p42/44ERK, and FRAP/mTOR signaling pathways. \"    ///    \"These findings reveal that the NPM/ALK alteration affects diverse cellular pathways, and provide novel insights into NPM/ALK-positive ALCL pathobiology. \"    ///    \"Using a mass spectrometry (MS)-driven approach to identify changes in protein expression caused by the NPM/ALK fusion, we identified diverse NPM/ALK-induced changes affecting cell proliferation, ribosome synthesis, survival, apoptosis evasion, angiogenesis, and cytoarchitectural organization. \"'), ('5114', 'CD18_CD11A', 't(8;21) / ', 'CD18', 'CD11A', '12855590', '70', 'myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The relevance of the AML-110 element is underscored by the ability of AML-1/ETO to inhibit CD11a promoter activity, thus explaining the low CD11a/CD18 expression in t(8;21)-containing myeloid leukemia cells.     ///    \"Therefore, the expression of the CD11a/CD18 integrin in myeloid cells is determined through the differential occupancy of the CD11a proximal promoter by transcription factors implicated in the pathogenesis of myeloid leukemia.. \"    ///    RUNX3/AML-2 binding to the CD11a promoter correlates with increased RUNX3/AML-2 protein levels and enhanced CD11a/CD18 cell surface expression.     ///    \"The CD11a promoter directs CD11a/CD18 integrin expression, and its activity in lymphoid cells depends on a functional RUNX1/AML-1-binding site (AML-110) within the MS7 sequence. \"    ///     The CD11a/CD18 (leukocyte function-associated antigen 1 [LFA-1]) integrin mediates critical leukocyte adhesive interactions during immune and inflammatory responses. '), ('5115', 'EML4_ALK', '', 'EML4', 'ALK', '23708071', '70', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The EML4-ALK fusion gene appears unique to lung cancer and signals through extracellular signal regulated kinase and phosphoinositide 3-kinase.     ///    \"Membrane phospholipids, EML4-ALK, and Hsp90 as novel targets in lung cancer treatment.. \"    ///    The echinoderm microtubule-associated protein-like 4 anaplastic lymphoma kinase (EML4-ALK) is member of the insulin superfamily of receptor tyrosine kinases.     ///    \"In this review we focus on radiosensitizing strategies involving the targeting of membrane phospholipids, EML4-ALK, and Hsp90 with specific inhibitors and briefly discuss the combination of radiation with antivascular agents.. \"'), ('5116', 'C8ORF38_ARHGEF3', '', 'C8ORF38', 'ARHGEF3', '24488012', '70', 'prostate cancer\r\r', 'PCR', '', '', '', '', '', '', '', 'Two gene fusions were in-frame: MPP5-FAM71D in PC346C and ARHGEF3-C8ORF38 in G089. '), ('5117', 'SYT_SSX', '', 'SYT', 'SSX', '11561755', '70', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The SYT-SSX fusion gene is present in both cellular components of biphasic synovial sarcoma and is involved in oncogenesis of the synovial sarcoma rather than in morphologic epithelial differentiation.     ///    Southern blot analysis also confirmed that the detected messages were derived from the SYT-SSX fusion gene.     ///    \" In order to confirm the presence of SYT-SSX fusion gene in epithelial and spindle cell components of synovial sarcoma, we performed a nested reverse transcriptase-polymerase chain reaction (RT-PCR) using microbeam microdissection of membrane-mounted native tissue (MOMeNT) technique applied on formalin-fixed, paraffin-embedded tumor specimens from two biphasic synovial sarcomas and a control tissue of adamantinoma. \"    ///    \"The SYT-SSX fusion transcript was detected in epithelial and spindle cell components of both biphasic synovial sarcomas, but not in the control tissue. \"'), ('5118', 'NPM_ALK', 't(2;5)(p23;q35) / t(2;5) / t(2;5)  / ', 'NPM', 'ALK', '7780128', '69', 'non Hodgkin lymphoma;anaplastic large cell lymphoma;lymphoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'To better define the spectrum of lymphomas that contain this translocation, we have analyzed 70 cases of non-Hodgkin\'s lymphoma (NHL) for expression of the t(2;5)-derived NPM/ALK chimeric message by reverse transcriptase-polymerase chain reaction (RT-PCR).     ///    \"Using a previously described set of oligonucleotide primers, NPM/ALK chimeric transcripts were detected in 21 of 22 cases that contained the t(2;5) by cytogenetic analysis and in 10 of 48 cases that either lacked evidence of the t(2;5) or had unsuccessful cytogenetics. \"    ///    \"The NPM/ALK-expressing cases were not confined to NHLs with anaplastic morphology and included 15 ALCLs, 6 immunoblastic lymphomas, and 10 diffuse large-cell lymphomas. \"    ///    \"In all but 1 case, the NPM/ALK PCR products were of identical size and sequence, suggesting that the genomic chromosome breaks are clustered in a single intron in both NPM and ALK. \"    ///    \"Moreover, only slightly greater than half of the cases with anaplastic morphology and 59% of CD30-expressing cases were NPM/ALK positive. \"');
INSERT INTO `ChimerPub_dump` VALUES ('5119', 'NPM_ALK', '', 'NPM', 'ALK', '17464320', '69', 'anaplastic large cell lymphoma;lymphoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'In this study, we developed three assays, all of which can be used with archival formalin-fixed, paraffin-embedded tissues: (1) a sensitive reverse transcription-polymerase chain reaction (RT-PCR) assay for various X-ALK fusion genes, (2) a 5\' rapid amplification of cDNA ends (RACE) assay to identify unknown fusion partners, and (3) a real-time RT-PCR assay to quantify the amount of the NPM-ALK fusion transcript.     ///    Prognostic significance of NPM-ALK fusion transcript overexpression in ALK-positive anaplastic large-cell lymphoma..     ///    Overexpression of the NPM-ALK fusion transcript may be associated with a poor prognosis of the patients with ALK(+) anaplastic large-cell lymphomas..     ///    Patients with NPM-ALK overexpression showed a significantly unfavorable overall survival compared with those with a low expression of this transcript.     ///    The real-time quantitative RT-PCR assay showed that the NPM-ALK transcript was over expressed in four of 20 quantifiable cases. '), ('5120', 'WIF1_HMGA2', '', 'WIF1', 'HMGA2', '21927843', '69', 'chondroid syringoma', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In the present study, we conducted an immunohistochemical evaluation of PLAG1 and a reverse transcription-polymerase chain reaction (RT-PCR) assay to detect fusion gene transcripts associated with pleomorphic adenoma, including the CTNNB1-PLAG1, LIFR-PLAG1, CHCHD7-PLAG1, TCEA1-PLAG1, HMGA2-FHIT, HMGA2-NFIB, and HMGA2-WIF1 fusion transcripts. '), ('5121', 'NFIB_HMGA2', '', 'NFIB', 'HMGA2', '21927843', '69', 'chondroid syringoma', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In the present study, we conducted an immunohistochemical evaluation of PLAG1 and a reverse transcription-polymerase chain reaction (RT-PCR) assay to detect fusion gene transcripts associated with pleomorphic adenoma, including the CTNNB1-PLAG1, LIFR-PLAG1, CHCHD7-PLAG1, TCEA1-PLAG1, HMGA2-FHIT, HMGA2-NFIB, and HMGA2-WIF1 fusion transcripts. '), ('5122', 'CDR_AML1', 't(8;21)  / t(8;21)(q22;q22) / ', 'CDR', 'AML1', '7869765', '69', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'In all groups we could detect an identical AML1/CDR fusion transcript. '), ('5123', 'FUS_DDIT3', '', 'FUS', 'DDIT3', '15688424', '68', 'liposarcoma', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', ' The myxoid/round cell liposarcoma oncogene FUS-DDIT3 is the result of a translocation derived gene fusion between the splicing factor FUS and DDIT3.     ///    Knockdown experiments using siRNA against CEBPB transcripts showed that the effect of FUS-DDIT3 on IL6 expression is C/EBP beta dependent.     ///    We demonstrate for the first time that DDIT3 and FUS-DDIT3 show opposite transcriptional regulation of IL8 and suggest that FUS-DDIT3 may affect the synergistic activation of promoters regulated by C/EBP beta and NFkappaB..     ///    \"In addition, the effect of DDIT3 and FUS-DDIT3 on the expression of other acute phase genes was examined using real-time PCR.\"    ///    Myxoid liposarcoma FUS-DDIT3 fusion oncogene induces C/EBP beta-mediated interleukin 6 expression.    ///    \"In addition, the effect of DDIT3 and FUS-DDIT3 on the expression of other acute phase genes was examined using real-time PCR. \"    ///    Myxoid liposarcoma FUS-DDIT3 fusion oncogene induces C/EBP beta-mediated interleukin 6 expression.. '), ('5124', 'SEPT14_EGFR', '', 'SEPT14', 'EGFR', '23917401', '68', '', '', 'Kinase', '', '', '', '', '', '', 'We also report recurrent translocations that fuse the coding sequence of EGFR to several partners, with EGFR-SEPT14 being the most frequent functional gene fusion in human glioblastoma.     ///    EGFR-SEPT14 fusions activate STAT3 signaling and confer mitogen independence and sensitivity to EGFR inhibition. '), ('5125', 'MLL_AF10', 't(10;11)(p12;q23) / t(10;11)(p12;q14) / ', 'MLL', 'AF10', '11756182', '68', 'hematologic malignancy\r\r', '', '', '', '', '', '', '', '', 'The chimeric fusion proteins MLL/AF10 and CALM/AF10, resulting from the t(10;11)(p12;q23) and the t(10;11)(p12;q14), respectively, consistently retain the leucine zipper motif of AF10. '), ('5126', 'CALM_AF10', 't(10;11)(p12;q23) / t(10;11)(p12;q14) / ', 'CALM', 'AF10', '11756182', '68', 'hematologic malignancy\r\r', '', '', '', '', '', '', '', '', 'The chimeric fusion proteins MLL/AF10 and CALM/AF10, resulting from the t(10;11)(p12;q23) and the t(10;11)(p12;q14), respectively, consistently retain the leucine zipper motif of AF10. '), ('5127', 'VAMP2_NRG1', '', 'VAMP2', 'NRG1', '26134228', '68', 'non small cell lung cancer;lung cancer\r\r', '', '', '', '', '', '', '', '', 'VAMP2-NRG1 is a novel oncogenic fusion gene representing a new addition to the list of NRG1 fusion genes, which together may form an important diagnostic and clinical category of lung adenocarcinoma cases..     ///    VAMP2-NRG1 Fusion Gene is a Novel Oncogenic Driver of Non-Small-Cell Lung Adenocarcinoma..     ///    The most highly expressed splice variant of VAMP2-NRG1 fusion gene was shown to be membrane bound and display EGF-like domain of NRG1 extracellularly.     ///    VAMP2-NRG1 promotes anchorage-independent colony formation of H1568 lung adenocarcinoma cells. '), ('5128', 'ERBB3_ERBB2', '', 'ERBB3', 'ERBB2', '26134228', '68', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'These fusion genes activate ERBB2/ERBB3 receptor-mediated cell signaling and thereby function as oncogenic drivers.     ///    Immunoblotting and soft agar assays were used to examine stimulating activity of the fusion gene through ERBB2/ERBB3 signaling pathway. '), ('5129', 'LPP_HMGIC', 't(3;12) / ', 'LPP', 'HMGIC', '11566348', '67', '', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'RT-PCR revealed the presence of a HMGIC-LPP fusion transcript composed of exons 1-3 of HMGIC and exons 9-11 of LPP, but the absence of the reverse LPP-HMGIC fusion transcript. '), ('5130', 'EWS_ERG', 't(21;22)(q22;q12) / ', 'EWS', 'ERG', '11441341', '67', 'ewing sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'By RT-PCR, the EWS-ERG fusion transcript was defined as type 9e. '), ('5131', 'MYH11_CBF', 'inv(16)(p13q22) / ', 'MYH11', 'CBF', '7858261', '67', 'leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Detection of the chromosome 16 CBF beta-MYH11 fusion transcript in myelomonocytic leukemias..     ///    \"We have analyzed CBF beta-MYH11 fusion transcripts by RT-PCR in myelomonocytic leukemias, with or without eosinophilia, to determine whether their presence correlates with morphology. \"    ///    \"These data show that CBF beta-MYH11 fusion transcripts occur not only in the vast majority of typical AML M4Eo, but also in approximately 10% of AML M4 without eosinophilic abnormalities, a much higher incidence than the sporadic reports of chromosome 16 abnormalities in AML M4 would suggest. \"    ///    \"Taken together with the detection of CBF beta-MYH11 transcripts in the absence of apparent chromosome 16 abnormalities by classical banding techniques, these data show that additional screening by either RT-PCR or FISH should be performed in all AML M4, regardless of morphologic features, to allow accurate evaluation of the prognostic importance of this fusion transcript.. \"    ///    All 11 typical AML M4Eo were CBF beta-MYH11 positive.     ///    \"Three of 29 (10%) AML M4 without abnormal eosinophils were CBF beta-MYH11 positive, 1 of which did not show any apparent chromosome 16 abnormalities by classical metaphase analysis (2 not tested). \"'), ('5132', 'YWHAE_FAM22A', 't(10;17) (q22;p13) / ', 'YWHAE', 'FAM22A', '23599159', '67', 'endometrial stromal sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', '', 'Five cases (26%) showed a specific fusion transcript YWHAE-FAM22A/B sequence. '), ('5133', 'PML_PAX5', 't(9;15) / ', 'PML', 'PAX5', '20972455', '67', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', '', '', 'The reduced and altered activities of PAX5 are linked to the protein-protein interaction motif (coiled-coil domain) of the PAX5-PML fusion protein in t(9;15)-associated acute lymphocytic leukemia..     ///    Studies comparing PAX5-PML with PAX5-PML(?CC) demonstrated that the coiled-coil (CC) protein interaction domain located within the PML moiety was required for PAX5-PML homodimer complex formation and partial transcriptional repression of genes controlled by PAX5.     ///    \"Furthermore, the dimerization domain (CC) of PML was responsible for the reduced intranuclear mobility of PAX5-PML. \"    ///    \"In the present studies, we found, by gel shift assays, that PAX5-PML bound to a panel of PAX5-consensus sequence acts as a homodimer with reduction of its DNA-binding affinities in comparison with wild-type PAX5. \"    ///    These results indicate that the CC domain of PAX5-PML is important for each of the known activities of PAX5-PML fusion proteins..     ///    \"By fluorescent recovery after photobleach (FRAP), we have shown that PAX5-PML fusion protein has reduced intranuclear mobility compared with wild-type PAX5. \"    ///     The paired box domain of PAX5 was reported to fuse with the sequence of promyelocytic leukemia (PML) to produce PAX5-PML chimeric protein in two patients with B-cell acute lymphoblastic leukemia.     ///    \"In transient transfection assays using 293T and HeLa cells, and retrovirus transduction of murine hematopoietic stem/progenitor cells together with quantitative real-time polymerase chain reaction analysis, PAX5-PML inhibited wild-type PAX5 target gene transcriptional activity. \"'), ('5134', 'JAK2_JAK1', 't(8;9)(p22;p24) / t(9;22)(p24;q11) / ', 'JAK2', 'JAK1', '25260694', '67', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', '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. '), ('5135', 'MLL_AF5Q31', 't(4;11)(q21;q23) / ', 'MLL', 'AF5Q31', '12399976', '66', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'In a cell line of infant leukemia with MLL rearrangement denoted KP-L-RY, panhandle PCR amplification of cDNA revealed the presence of a fusion transcript, MLL-AF5q31, indicating that AF5q31 is also a partner gene of MLL.     ///    A novel infant acute lymphoblastic leukemia cell line with MLL-AF5q31 fusion transcript..     ///    \"The MLL-AF5q31 fusion transcript, although probably rare, appears to be associated with the pathogenesis of infant ALL like MLL-AF4. \"    ///    Further understanding of the function of AF5q31 as well as the specific leukemogenic mechanism of MLL-AF5q31 awaits future studies..     ///    Co-expression of HoxA9 and Meis1 genes in the KP-L-RY cell line indicated possible functional similarity between MLL-AF4 and MLL-AF5q31. '), ('5136', 'MDS2_ETV6', 't(1;12) / t(1;12)(p36;p13) / 1p36.1 / ', 'MDS2', 'ETV6', '12203785', '66', 'myelodysplastic syndrome\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', '', 'The product of the ETV6-MDS2 fusion transcript predicts a short ETV6 protein containing the first 54 amino acids of ETV6 plus four novel amino acids, lacking both the PTN and the DNA-binding domains.     ///    \"RT-PCR analysis showed that ETV6-MDS2, but not the reciprocal MDS2-ETV6 fusion transcript, was expressed in the bone marrow of the patient. \"'), ('5137', 'HLF_E2A', 't(17;19)  / ', 'HLF', 'E2A', '21072044', '66', 'leukemia\r\r', 'PCR', '', 'Oncogene', '', '', '', '', '', ' The oncogenic fusion protein E2A-HLF is a chimeric transcription factor that arises from the t(17;19) translocation in childhood B-cell acute lymphoblastic leukemias (B-precursor ALL) and is associated with very poor outcome.     ///    Both shRNA-mediated knockdown of Lmo2 expression and pharmacological inhibition of BCL-2 function in E2A-HLF immortalized cells severely compromised their viability.     ///    Co-expression of Lmo2 and Bcl-2 was sufficient to immortalize lymphoid progenitor cells resulting in a similar phenotype to that induced by E2A-HLF alone.     ///    These data suggest that both Lmo2 and Bcl-2 are required for the action of E2A-HLF in leukemogenesis..     ///    We identify Lmo2 and Bcl-2 as direct target genes downstream of E2A-HLF.     ///    The E2A-HLF oncogenic fusion protein acts through Lmo2 and Bcl-2 to immortalize hematopoietic progenitors..     ///    We show that retroviral-mediated expression of E2A-HLF alone is sufficient to immortalize primary lymphoid progenitors. '), ('5138', 'SYT_SSX1', 'p11.2;q11.2 / ', 'SYT', 'SSX1', '10879732', '65', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In the present work, we analyze a series of 36 SS surgical samples (from 34 patients) by RT-PCR for the presence of the SYT-SSX1 or the SYT-SSX2 fusion transcript.     ///    SYT-SSX1 fusion transcripts were present in both monophasic and biphasic tumors. '), ('5139', 'SYT_SSX2', 'p11.2;q11.2 / ', 'SYT', 'SSX2', '10879732', '65', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In the present work, we analyze a series of 36 SS surgical samples (from 34 patients) by RT-PCR for the presence of the SYT-SSX1 or the SYT-SSX2 fusion transcript.     ///    Our results showed a significant correlation between the SYT-SSX2 fusion and the monophasic SS histologic subtype. '), ('5140', 'EWS_ATF1', 't(12;22) (q13;q12) / t(12;22)(q13;q12) / ', 'EWS', 'ATF1', '16517477', '65', 'clear cell sarcoma;melanoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', 'An EWS exon 8 sense primer and an antisense ATF1 primer were employed for detection of the CCS-ST tumor-defining EWS-ATF1 translocation, using reverse transcriptase-polymerase chain reaction techniques (RT-PCR), and the fusion gene breakpoint underwent DNA sequencing. '), ('5141', 'RANBP2_ALK', '', 'RANBP2', 'ALK', '25028698', '65', 'sarcoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'A case report of epithelioid inflammatory myofibroblastic sarcoma with RANBP2-ALK fusion gene treated with the ALK inhibitor, crizotinib..     ///     Epithelioid inflammatory myofibroblastic sarcoma is a variant of inflammatory myofibroblastic tumor with aggressive clinical course associated with RANBP2-ALK fusion.     ///    \"The feature of the neoplasms, including epithelioid morphology, anaplastic lymphoma kinase staining on the nuclear membrane, and results from the reverse transcriptase-polymerase chain reaction, led to diagnosis of epithelioid inflammatory myofibroblastic sarcoma with RANBP2-ALK fusion. \"'), ('5142', 'NPM_ALK', 't(2;5)  / t(2;5) / ', 'NPM', 'ALK', '11957137', '65', 'anaplastic large cell lymphoma;anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' Anaplastic large cell lymphoma of T/null-cell type (ALCL) is associated with a characteristic genetic abnormality t(2;5) that results in the NPM-ALK chimeric gene and the protein product derived thereof. '), ('5143', 'GLUT4_CAT', '', 'GLUT4', 'CAT', '12641495', '65', '', '', '', '', '', '', '', '', '', 'Moreover, co-transfection with a wild-type C/EBPalpha construct transactivates a full-promoter GLUT4 - CAT fusion gene, whereas a dominant-negative C/EBPalpha expression vector impairs the hormonal effects. '), ('5144', 'TEL_AML1', 't(12;21)(p13;q22) / ', 'TEL', 'AML1', '9473238', '65', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'The resulting fusion transcript, termed TEL-AML1, has been associated with an excellent prognosis at initial ALL diagnosis.     ///    TEL-AML1 fusion transcript in relapsed childhood acute lymphoblastic leukemia.     ///    Screening for TEL-AML1 should become routine at relapse diagnosis and might be used for therapy stratification in future trials..     ///    \"At a median follow-up time of 21.5 months, children positive for TEL-AML1 had a significantly (P = .0011) higher probability of event-free survival (EFS. \"    ///    TEL-AML1 positivity predicted a favorable short-term outcome.     ///    \"To address this assumption and to investigate the prognostic significance of TEL-AML1 expression in relapsed childhood ALL, bone marrow samples of 146 children were analyzed by reverse-transcriptase (RT)-polymerase chain reaction (PCR). \"    ///    \"Thus, the incidence of TEL-AML1 in relapsed Ph1-negative, B-cell precursor ALL is 32 of 133 (24%). \"    ///    \"Hence, we postulated that the incidence of TEL-AML1 fusion should be lower in patients with ALL relapse. \"'), ('5145', 'SYT_SSX', 'p11.2;q11.2 / ', 'SYT', 'SSX', '12065783', '65', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'This finding suggests that this novel fusion gene, which involves exon 6 of SSX only, is sufficient to keep the transforming function conferred by the SYT/SSX translocation of SS.     ///    \"In about 3% of morphologically, ultrastructurally, and immunohistochemically defined SS, the SYT/SSX fusion transcript is not detected using conventional RT-PCR. \"    ///    \"Using nine cases of SS in which SYT/SSX fusion transcripts were not detected by conventional RT-PCR methods, we demonstrate the presence of SYT/SSX transcripts in two cases using the proposed RT-PCR approach. \"    ///    \"Here we demonstrate that optimization of the RT-PCR method is important for detecting different and unexpected SYT/SSX variants, which otherwise could be overlooked. \"    ///    Applications of optimized RT-PCR can contribute to reduce false-negative SYT/SSX SS cases reported in literature..     ///    A novel type of SYT/SSX fusion: methodological and biological implications.. '), ('5146', 'PLZF_RARA', 't(15;17)  / del(17)(q25) / t(11;17)(q23;q21) / t(11;17) / ', 'PLZF', 'RARA', '7517211', '65', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', '12 cases had 46,XX or 46,XY karyotypes, whereas 2 cases had abnormalities of chromosome 17q: 1 with del(17)(q25) and the other with t(11;17)(q23;q21) and the promyelocytic leukemia zinc finger/RAR alpha fusion transcript. '), ('5147', 'SYT_SSX', 'p11.2;q11.2 / ', 'SYT', 'SSX', '10879732', '65', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Analysis of SYT-SSX fusion transcripts and bcl-2 expression and phosphorylation status in synovial sarcoma.. '), ('5148', 'TEL_AML1', 't(8;21)  / ', 'TEL', 'AML1', '11986239', '65', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' Recent reports have established the prenatal origin of leukemia translocations and resultant fusion genes in some patients, including MLL-AF4 translocations in infants and TEL-AML1 translocations in children. '), ('5149', 'Immunoglobulin _BCL2', 't(14;18)  / ', 'Immunoglobulin ', 'BCL2', '2543982', '65', 'B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Inappropriately high levels of BCL2-immunoglobulin chimeric RNA are present in t(14;18) lymphomas for their mature B-cell stage. '), ('5150', 'MALT1_API2', 't(11;18)  / t(11;18) / ', 'MALT1', 'API2', '12950026', '65', 'B cell lymphoma;lymphoma;arthritis\r\r', '', '', '', '', '', '', '', '', 'The t(11;18), which produces the putative anti-apoptotic fusion protein API2-MALT1, has been identified in a large proportion of extracutaneous MALT-type lymphomas and a smaller fraction of tumours harbour mutations that inactivate the pro-apoptotic functions of Fas and Bcl10. '), ('5151', 'EWS_ERG', 't(21;22)(q22;q12) / ', 'EWS', 'ERG', '8707406', '64', 'ewing tumor\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'No EWS/ERG fusion transcript could be detected with previously reported RT-PCR primers.     ///    An EWS/ERG fusion with a truncated N-terminal domain of EWS in a Ewing\'s tumor.. '), ('5152', 'SYT_SSX2', 'p11;q11 / ', 'SYT', 'SSX2', '7495284', '64', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Molecular diagnosis of synovial sarcoma and characterization of a variant SYT-SSX2 fusion transcript..     ///    19 cases were positive for SYT-SSX1 and 10 for SYT-SSX2.     ///    \"In a single histologically unremarkable monophasic SS, a slightly larger SYT-SSX2 RT-PCR product was observed. \"'), ('5153', 'FLI_EWS', 't(11;22)(q24;q12) / t(11;22)  / t(11;22) / ', 'FLI', 'EWS', '8238248', '64', 'neuroectodermal tumor;ewing sarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', 'No EWS/FLI-1 fusion transcripts were detected in five cell lines derived from cases of pediatric sarcomas having a histological diagnosis other than Ewing\'s sarcoma/PNET.     ///    \"Translocation results in the fusion of these genes on the der(22) chromosome, resulting in the production of a novel chimeric EWS/FLI-1 message. \"'), ('5154', 'TEL_AML1', 't(4;21)(q31;q22) / ', 'TEL', 'AML1', '11960347', '64', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'The TEL-AML1 fusion was observed in six patients both by RT-PCR and FISH analyses, with a frequency of 22.2% among the B-lineage group, whereas TEL deletion was seen by FISH analysis in seven patients (17.1%). '), ('5155', 'MLL_ENL', 't(11;19)  / ', 'MLL', 'ENL', '8639852', '64', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'All 17 cases of acute lymphoblastic leukemia (ALL) had MLL/ENL fusion transcripts.     ///    \"By contrast, of the 9 cases of acute myeloid leukemia (AML) analyzed, 6 had MLL/ENL fusions, 2 had MLL/ELL fusions, and 1 case had no RT-PCR-detectable MLL fusion mRNA. \"'), ('5156', 'NUP98_HOXD13', 't(2;11)(q31;p15) / t(2;11)  / ', 'NUP98', 'HOXD13', '10995009', '64', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'The NUP98-HOXD13 fusion transcript was predicted to encode a 552 or 569-amino acid protein containing the Phe-Gly (FG) repeat region of NUP98 and the homeodomain of HOXD13.     ///    \"By 3\'-RACE and RT-PCR analyses, two kinds of NUP98-HOXD13 fusion transcript were detected. \"'), ('5157', 'PBX1_E2A', '', 'PBX1', 'E2A', '8246953', '64', '', '', '', '', '', '', 'Transcription_Factor', '', '', ' A monoclonal antibody (Yae) was characterized and shown to specifically recognize E2A proteins in vivo, including the E2A-Pbx1 fusion gene products, p77E2A-Pbx1 and p85E2A-Pbx1. '), ('5158', 'NUP98_FN1', 't(2;11)(q31;p15) / t(2;11)  / ', 'NUP98', 'FN1', '10995009', '64', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The NUP98-FN1 fusion transcript was predicted to encode a 482 or 499-amino acid protein consisting of the same N-terminal region of NUP98 and a C-terminal region of 12 amino acids derived from a previously unidentified sequence.     ///    \"In addition, we identified a novel fusion transcript, NUP98-FN1, in the same patient. \"'), ('5159', 'WWTR1_CAMTA1', 't(1;3)(p36;q25) / ', 'WWTR1', 'CAMTA1', '22429593', '64', 'epithelioid hemangioendothelioma;epithelioid hemangioendothelioma\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', 'Using reverse transcription-polymerase chain reaction (RT-PCR) and subsequent sequencing, we confirmed an identical WWTR1-CAMTA1 fusion transcript product from different nodules in each patient.     ///    Our recent identification of a WWTR1-CAMTA1 fusion as the genetic hallmark of EHE irrespective of anatomic location was used to clarify this question by comparing the similarity of translocation breakpoints.     ///    Monoclonality of multifocal epithelioid hemangioendothelioma of the liver by analysis of WWTR1-CAMTA1 breakpoints.. '), ('5160', 'BCR_ABL1', 't(9;22)(q34;q11) / ', 'BCR', 'ABL1', '25360156', '64', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In addition, an abnormal FISH pattern previously described as the deletion of the 3\'BCR region in some BCR/ABL1 positive cases was not proved in our patient.     ///    \"A cryptic BCR/ABL1 fusion, which was caused by the insertion of part of the ABL1 gene into the 22q11 region, was proved in HeH clone by FISH, RT-PCR and CGH-SNP array. \"    ///    An unusual case of high hyperdiploid childhood ALL with cryptic BCR/ABL1 rearrangement..     ///    \"A novel case of extremely rare childhood ALL, characterized by HeH and a cryptic BCR/ABL1 fusion, is presented and to the best of our knowledge described for the first time. \"    ///    Here we report a new case of a 17-year-old girl with newly diagnosed ALL and uncommon cytogenetic and clinical finding combining high hyperdiploidy and a cryptic BCR/ABL1 fusion and an inherited Charcot-Marie-Tooth neuropathy detected during the induction treatment. '), ('5161', 'FLI_EWS', 't(11;22)  / t(11;22) / ', 'FLI', 'EWS', '7675766', '64', 'neuroectodermal tumor;medulloblastoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Molecular genetic analysis for the presence of EWS/FLI-1 fusion transcripts by the reverse transcriptase-polymerase chain reaction has recently been applied to peripheral PNETs.     ///    \"In the present study, we analyzed eight central PNETs by reverse transcriptase-polymerase chain reaction for EWS/FLI-1 fusion transcripts. \"    ///    Reverse transcriptase-polymerase chain reaction analysis of EWS/FLI-1 fusion transcripts provides a novel adjunctive tool in the differentiation of central versus peripheral PNET.. '), ('5162', 'BCR_ABL1', 't(9;22)  / ', 'BCR', 'ABL1', '12432215', '64', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'BCR-ABL fusion transcripts lack ABL exon a1 and consist of BCR exons fused directly to ABL exon a2. '), ('5163', 'MYH11_CBFB', '', 'MYH11', 'CBFB', '16228048', '63', 'acute myeloid leukemia;acute lymphoblastic leukemia;chronic myeloid leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'The Section of Hematology, Department of Pathology and Laboratory Medicine at King Faisal Specialist Hospital and Research Center has shared this experience during the last 10 years with more than 6,546 samples submitted for the analysis of different gene rearrangements, fusion gene transcripts and gene mutations including Ig heavy chain gene rearrangement for B-cell malignancies, T-cell receptor gamma chain gene rearrangement for T-cell malignancies, BCR/ABL-P210 and P190 fusion gene transcripts, for chronic myeloid leukemia and Philadelphia positive acute lymphoblastic leukemia, PML/RARalpha fusion gene for promyelocytic leukemia, AML1/ETO for acute myeloid leukemia AML-M2 with t8;21, CBFB/MYH11 for AML M4E0 with inv 16, BCL-2 for follicular lymphoma, and BCL-1 for mantle cell lymphoma. '), ('5164', 'EML4_ALK', '', 'EML4', 'ALK', '21994901', '63', 'prostate cancer;non small cell lung cancer;lung cancer;sarcoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Following the discovery of the recurrent TMPRSS2:ETS fusions in prostate cancer and EML4:ALK in non-small-cell lung cancer, it is now accepted that fusion genes not only are the hallmark of haematological malignancies and sarcomas, but also play an important role in epithelial cell carcinogenesis.    ///    \"Following the discovery of the recurrent TMPRSS2:ETS fusions in prostate cancer and EML4:ALK in non-small-cell lung cancer, it is now accepted that fusion genes not only are the hallmark of haematological malignancies and sarcomas, but also play an important role in epithelial cell carcinogenesis. \"'), ('5165', 'NCOA2_HEY1', '', 'NCOA2', 'HEY1', '22034177', '63', 'chondrosarcoma;liposarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', '', '', 'The novel HEY1-NCOA2 fusion appears to be the defining and diagnostic gene fusion in mesenchymal chondrosarcomas..     ///    RT-PCR or FISH evidence of this HEY1-NCOA2 fusion was present in all additional mesenchymal chondrosarcomas tested with a definitive histologic diagnosis and adequate material for analysis (n = 9) but was absent in 15 samples of other subtypes of chondrosarcomas.     ///    \"Identification of a novel, recurrent HEY1-NCOA2 fusion in mesenchymal chondrosarcoma based on a genome-wide screen of exon-level expression data.. \"    ///    \"A novel HEY1-NCOA2 fusion was identified by 5\' RACE, representing an in-frame fusion of HEY1 exon 4 to NCOA2 exon 13. \"    ///    \"Identification of a novel, recurrent HEY1-NCOA2 fusion in mesenchymal chondrosarcoma based on a genome-wide screen of exon-level expression data.\"'), ('5166', 'ETO_AML1', '', 'ETO', 'AML1', '16228048', '63', 'acute myeloid leukemia;acute lymphoblastic leukemia;chronic myeloid leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'The Section of Hematology, Department of Pathology and Laboratory Medicine at King Faisal Specialist Hospital and Research Center has shared this experience during the last 10 years with more than 6,546 samples submitted for the analysis of different gene rearrangements, fusion gene transcripts and gene mutations including Ig heavy chain gene rearrangement for B-cell malignancies, T-cell receptor gamma chain gene rearrangement for T-cell malignancies, BCR/ABL-P210 and P190 fusion gene transcripts, for chronic myeloid leukemia and Philadelphia positive acute lymphoblastic leukemia, PML/RARalpha fusion gene for promyelocytic leukemia, AML1/ETO for acute myeloid leukemia AML-M2 with t8;21, CBFB/MYH11 for AML M4E0 with inv 16, BCL-2 for follicular lymphoma, and BCL-1 for mantle cell lymphoma. '), ('5167', 'BCL2_MBR', '', 'BCL2', 'MBR', '8270971', '63', 'diffuse large cell lymphoma;lymphoma', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'More than 66% of the cases expressed bcl-2 protein, whereas 18% had a detectable bcl-2-MBR gene rearrangement.     ///    Clinical significance of bcl-2-MBR gene rearrangement and protein expression in diffuse large-cell non-Hodgkin\'s lymphoma: an analysis of 83 cases..     ///    \"The bcl-2-MBR gene rearrangement may possibly be associated with a shorter disease-free period, particularly in the specific setting of a lymphoma with extranodal presentation.. \"    ///    \"Overall, cases with bcl-2-MBR rearrangement had shorter disease-free periods. \"    ///    \"however, the disease-free period of patients with extranodal presentation and bcl-2-MBR rearrangement was significantly shorter than that of those without rearrangement. \"    ///    Cases with nodal and extranodal presentation had a similar frequencies of bcl-2-MBR rearrangement.     ///    This technique detects the approximately 60% of rearrangements involving the major breakpoint region bcl-2 gene (bcl-2-MBR). '), ('5168', 'MAP_ERK', '', 'MAP', 'ERK', '19373855', '63', 'pilocytic astrocytoma\r\r', 'PCR', '', '', '', '', '', '', '', ' We report genetic aberrations that activate the ERK/MAP kinase pathway in 100% of posterior fossa pilocytic astrocytomas, with a high frequency of gene fusions between KIAA1549 and BRAF among these tumours.     ///    \"Further fusions and activating mutations in BRAF were identified in 28% of grade II astrocytomas, highlighting the importance of the ERK/MAP kinase pathway in the development of paediatric low-grade gliomas.. \"'), ('5169', 'EML4_ALK', '', 'EML4', 'ALK', '23324244', '62', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', '[Mechanisms of resistance to crizotinib in patients with transforming EML4-ALK fusion gene].    ///    [Mechanisms of resistance to crizotinib in patients with transforming EML4-ALK fusion gene].. '), ('5170', 'PAX3_FOXO1', '', 'PAX3', 'FOXO1', '26199390', '62', 'rhabdomyosarcoma;sarcoma\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', ' CDK4 is preclinically validated as a therapeutic target in PAX3-FOXO1 fusion gene-positive rhabdomyosarcomas. '), ('5171', 'HRX_EEN', '', 'HRX', 'EEN', '11877002', '62', 'leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'HRX gene rearrangement was found in 10 cases, including HRX/AF-4 fusion gene in 5, HRX/AF-9 fusion in 2, and HRX/ENL fusion in 1, HRX self-fusion mediated by alu-repeat homologous recombination and HRX/EEN fusion each in one (HRX/EEN is a novel fusion gene reported for the first time). '), ('5172', 'BCL2_IGH', '', 'BCL2', 'IGH', '12799255', '62', 'reactive lymphoid hyperplasia', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Results of flow cytometric immunophenotyping (FCI) and molecular assessment using polymerase chain reaction for immunoglobulin heavy chain (IgH) and TCR gamma chain gene rearrangement and bcl-2/IgH translocation were then incorporated into a final diagnosis. '), ('5173', 'SYT_SSX', '', 'SYT', 'SSX', '15240740', '62', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'These findings support the validity in design of anchor residue substitution in SYT-SSX fusion gene-derived peptide, and provide a potential clue to the current stagnation in vaccination trials of fusion gene-derived natural junction peptides..     ///    Crisscross CTL induction by SYT-SSX junction peptide and its HLA-A*2402 anchor substitute..     ///    \" To investigate the effects of anchor substitutions in SYT-SSX junction peptide, an HLA-A24 anchor residue (position 9) of the SYT-SSX B peptide (GYDQIMPKK) was substituted to more favorable residues according to the HLA-A24-binding motif. \"'), ('5174', 'FLT3_ETV6', '', 'FLT3', 'ETV6', '24854988', '62', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'ETV6-FLT3 fusion gene-positive, eosinophilia-associated myeloproliferative neoplasm successfully treated with sorafenib and allogeneic stem cell transplant.. '), ('5175', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '23754911', '62', 'hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' We report the treatment course of a 29-year-old man who has had unique oscillating FIP1L1-PDGFRA fusion gene-negative hypereosinophilic syndrome (HES) for nearly 6 years. '), ('5176', 'HRX_ENL', '', 'HRX', 'ENL', '11877002', '62', 'leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'HRX gene rearrangement was found in 10 cases, including HRX/AF-4 fusion gene in 5, HRX/AF-9 fusion in 2, and HRX/ENL fusion in 1, HRX self-fusion mediated by alu-repeat homologous recombination and HRX/EEN fusion each in one (HRX/EEN is a novel fusion gene reported for the first time). '), ('5177', 'MYH11_CBFB', 'inv(16) / inv(16)  / ', 'MYH11', 'CBFB', '26891877', '62', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Because FLT3-N676K was encountered almost exclusively in inv(16) AML, we investigated the transforming potential of FLT3-N676K, the cooperation between FLT3-N676K and core binding factor ?-smooth muscle myosin heavy chain (CBF?-SMMHC) (encoded by the inv(16) chimeric gene CBFB-MYH11) in inducing acute leukemia, and tested the sensitivity of FLT3-N676K-positive leukemic cells to FLT3 inhibitors. '), ('5178', 'ZNF198_FGFR1', 't(8;13)  / ', 'ZNF198', 'FGFR1', '16777224', '62', 'precursor B cell leukemia', 'PCR;RT-PCR', 'Kinase', '', '', '', '', 'KB', '', 'Of interest, reciprocal FGFR1-ZNF198 fusion transcript was demonstrated in the BM but not LN.     ///    RT-PCR revealed the ZNF198-FGFR1 fusion transcript in both the bone marrow (BM) and lymph node (LN) of the patient at diagnosis. '), ('5179', 'EML4_ALK', '', 'EML4', 'ALK', '23083517', '62', 'squamous cell carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Can we eliminate squamous cell carcinoma of the lung from testing of EML4-ALK fusion gene?. '), ('5180', 'EML4_ALK', '', 'EML4', 'ALK', '26666609', '62', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Alternate-day Treatment with Crizotinib for Drug-induced Esophagitis and Liver Damage in a Patient with EML4-ALK Fusion Gene-positive Lung Adenocarcinoma.. '), ('5181', 'EML4_ALK', '', 'EML4', 'ALK', '24842630', '61', 'lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Identification of a novel HLA-A 02:01-restricted cytotoxic T lymphocyte epitope derived from the EML4-ALK fusion gene..     ///    The EML4-ALK fusion gene was recently identified in a subset of non-small cell lung cancers (NSCLCs).     ///    In this study we searched for HLA-A 02:01- and HLA-A 24:02?restricted epitopes derived from EML4-ALK by screening predicted EML4-ALK?derived candidate peptides for the induction of tumor?reactive CTLs.     ///    This CTL clone specifically recognized peptide?pulsed T2 cells and H2228 cells expressing HLA-A 02:01 and EML4-ALK that had been treated with IFN-? 48 h prior to examination.     ///    Nine EML4-ALK?derived peptides were selected by a computer algorithm based on a permissive HLA-A 02:01 or HLA-A 24:02 binding motif. '), ('5182', 'RN28S1_COG1', 't(6;14)(q25;q32) / ', 'RN28S1', 'COG1', '24504345', '61', 'leukemia;multiple myeloma;sarcoma;hematologic malignancy\r\r', 'PCR', '', '', '', '', '', '', '', 'IGKV3-20-RN28S1 and COG1-RN28S1 fusion transcripts were identified in the Burkitt lymphoma cell line HBL-5, and the multiple myeloma cell line KMS-18. '), ('5183', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '19716227', '61', 'prostate cancer\r\r', 'PCR', '', '', '', '', '', 'KB', 'Seq', 'Expression of the androgen-regulated fusion gene TMPRSS2-ERG does not predict response to endocrine treatment in hormone-na?ve, node-positive prostate cancer..     ///    TMPRSS2-ERG expression was analysed by PCR using a forward primer in TMPRSS2 exon 1 and a reverse primer in ERG exon 4.     ///    \"To determine whether expression of androgen-regulated TMPRSS2-ERG predicts response to endocrine treatment in hormone-na?ve, node-positive PCa. \"    ///    TMPRSS2-ERG was expressed in 59% of the 71 patients who could be analysed.     ///    Expression of TMPRSS2-ERG is frequent in lymph node metastases of patients with untreated PCa.     ///    Our results suggest that expression of TMPRSS2-ERG is not a candidate marker to select for metastatic PCa patients who will benefit more from endocrine treatment.. '), ('5184', 'TNS3_EXOC6B', 't(2;7)(p13;p12) / ', 'TNS3', 'EXOC6B', '18424204', '61', '', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'A EXOC6B-TNS3 fusion transcript together with a reciprocal TNS3-EXOC6B chimeric RNA have been detected by RT-PCR performed on skin fibroblasts RNA of the proband. '), ('5185', 'FUS_CREB3L2', '', 'FUS', 'CREB3L2', '21406083', '61', 'soft tissue neoplasm', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'RT-PCR and FISH for the FUS-CREB3L2 fusion transcript are useful tools for confirming LGFMS diagnosis, but have no role in predicting medium-term clinical outcome.     ///    \"The FUS-CREB3L2 gene translocation, which occurs commonly in LGFMS, may be detected by reverse-transcriptase polymerase chain reaction (RT-PCR) and fluorescence in situ hybridisation (FISH). \"    ///    \"Results showed 50% of cases tested positive for the FUS-CREB3L2 translocation by RT-PCR and 81.8% by FISH, suggesting FISH is more sensitive than RT-PCR for confirming LGFMS diagnosis. \"    ///    The clinical significance of the FUS-CREB3L2 translocation in low-grade fibromyxoid sarcoma.. '), ('5186', 'NTRK3_ETV6', 't(12;15)  / ', 'NTRK3', 'ETV6', '21804605', '61', '', '', 'Kinase', '', '', '', '', 'KB', 'Seq', ' ETV6-NTRK3 (EN), a chimeric tyrosine kinase generated by t(12;15) translocations, is a dominantly acting oncoprotein in diverse tumor types. '), ('5187', 'TCL4_MYC', 't(2;8)  / ', 'TCL4', 'MYC', '3194416', '60', 'T cell leukemia', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'The steady-state level of MYC-TCL4 fusion transcripts in HUT 78 cells is significantly higher than the MYC RNA level found in several other B- and T-cell lines.     ///    The production of fused MYC-TCL4 transcripts in a leukemic cell line raises the possibility that other B- and T-cell leukemias may express MYC fusion transcripts as an integral step in their pathogenesis.. '), ('5188', 'ETO_AML1', '', 'ETO', 'AML1', '16630339', '60', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', '', '', '', '', '', '', '', '', 'In AML patients (n = 13, age 1-14 years) PML/RARalpha (n = 4), CBFbeta/MYH11 (n = 3), AML1/ETO (n = 2), MLL/AF6 (n = 1), MLL/AF9 (n = 1) and MLL/AF10 (n = 1) fusion genes and/or internal tandem duplication of FLT3 gene (FLT3/ITD) (n = 2) were used as clonotypic markers. '), ('5189', 'NFIB_HMGA2', '', 'NFIB', 'HMGA2', '18383898', '60', '', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The expressions of three previously reported gene fusion transcripts, including HMGA2/LPP, HMGA2/RDC1 and HMGA2/NFIB, were analyzed in 102 tumors from patients with lipomas.     ///    \"There were 23 cases (22.5%) expressing HMGA2/LPP, 2 cases (1.9%) expressing HMGA2/RDC1 and no cases of HMGA2/NFIB expression (0%). \"'), ('5190', 'SS18_SSX1', '', 'SS18', 'SSX1', '19417583', '60', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Reverse transcriptase polymerase chain reaction for the SS18/SSX1 and SS18/SSX2 fusion genes and fluorescent in-situ hybridization for SYT rearrangement was performed.    ///    Reverse transcriptase polymerase chain reaction for the SS18/SSX1 and SS18/SSX2 fusion genes and fluorescent in-situ hybridization for SYT rearrangement was performed. '), ('5191', 'RDC1_HMGA2', '', 'RDC1', 'HMGA2', '18383898', '60', '', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The expressions of three previously reported gene fusion transcripts, including HMGA2/LPP, HMGA2/RDC1 and HMGA2/NFIB, were analyzed in 102 tumors from patients with lipomas.     ///    \"There were 23 cases (22.5%) expressing HMGA2/LPP, 2 cases (1.9%) expressing HMGA2/RDC1 and no cases of HMGA2/NFIB expression (0%). \"'), ('5192', 'TRPS1_LASP1', '', 'TRPS1', 'LASP1', '23260012', '60', 'breast cancer\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'From this analysis we identified 9 expressed fusion genes: APPBP2-PHF20L1, BCAS3-HOXB9, COL14A1-SKAP1, TAOK1-PCGF2, TIAM1-NRIP1, TIMM23-ARHGAP32, TRPS1-LASP1, USP32-CCDC49 and ZMYM4-OPRD1. '), ('5193', 'DEPDC6_DDX5', '', 'DEPDC6', 'DDX5', '23260012', '60', 'breast cancer\r\r', '', '', '', '', '', '', '', '', 'We also determined the genomic junctions of a further three expressed fusion genes that had been described by others, BCAS3-ERBB2, DDX5-DEPDC6/DEPTOR and PLEC1-ENPP2. '), ('5194', 'ETO_AML1', 't(8;21) / ', 'ETO', 'AML1', '15223604', '60', 'acute promyelocytic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'In addition, the AML1-ETO fusion protein, expressed in leukemic cells harboring the t(8;21), disrupt the physiological function of transcription factors such as C/EBPalpha and C/EBPepsilon, which in turn deregulate G-CSF-R expression. '), ('5195', 'IGH_BCL2', '', 'IGH', 'BCL2', '11050805', '60', 'non Hodgkin Lymphoma', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Bcl-2/IgH gene rearrangements were observed in 8 (34%) cases and 7 (30%) showed Bcl-2 expression on large noncleaved B-cells (centroblasts).     ///    This report correlates the molecular bcl-2/IgH rearrangement by PCR and Bcl-2 immunohistochemical (IHC) expression in a series of high grade DLBCLs with and without FCL remnant. '), ('5196', 'SKAP1_COL14A1', '', 'SKAP1', 'COL14A1', '23260012', '60', 'breast cancer\r\r', '', '', '', '', '', '', '', '', 'From this analysis we identified 9 expressed fusion genes: APPBP2-PHF20L1, BCAS3-HOXB9, COL14A1-SKAP1, TAOK1-PCGF2, TIAM1-NRIP1, TIMM23-ARHGAP32, TRPS1-LASP1, USP32-CCDC49 and ZMYM4-OPRD1. '), ('5197', 'TIAM1_NRIP1', '', 'TIAM1', 'NRIP1', '23260012', '60', 'breast cancer\r\r', '', '', '', '', '', 'Transcription_Factor', '', 'Seq', 'From this analysis we identified 9 expressed fusion genes: APPBP2-PHF20L1, BCAS3-HOXB9, COL14A1-SKAP1, TAOK1-PCGF2, TIAM1-NRIP1, TIMM23-ARHGAP32, TRPS1-LASP1, USP32-CCDC49 and ZMYM4-OPRD1. '), ('5198', 'ERBB2_BCAS3', '', 'ERBB2', 'BCAS3', '23260012', '60', 'breast cancer\r\r', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'We also determined the genomic junctions of a further three expressed fusion genes that had been described by others, BCAS3-ERBB2, DDX5-DEPDC6/DEPTOR and PLEC1-ENPP2. '), ('5199', 'PLEC1_ENPP2', '', 'PLEC1', 'ENPP2', '23260012', '60', 'breast cancer\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'We also determined the genomic junctions of a further three expressed fusion genes that had been described by others, BCAS3-ERBB2, DDX5-DEPDC6/DEPTOR and PLEC1-ENPP2. '), ('5200', 'ZMYM4_OPRD1', '', 'ZMYM4', 'OPRD1', '23260012', '60', 'breast cancer\r\r', '', '', '', '', 'Receptor', '', '', '', 'From this analysis we identified 9 expressed fusion genes: APPBP2-PHF20L1, BCAS3-HOXB9, COL14A1-SKAP1, TAOK1-PCGF2, TIAM1-NRIP1, TIMM23-ARHGAP32, TRPS1-LASP1, USP32-CCDC49 and ZMYM4-OPRD1. '), ('5201', 'MLL_CBP', 't(11;16)(q23;p13) / t(11;16)  / t(8;16)(p11;p13) / t(8;16) / ', 'MLL', 'CBP', '9166831', '60', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', '', '', '', '', '', '', '', '', 'In-frame MLL-CBP fusion transcripts combine the MLL AT-hook motifs and DNA methyltransferase homology region with a largely intact CBP. '), ('5202', 'RFP_PDL1', '', 'RFP', 'PDL1', '18992194', '60', '', '', '', '', '', '', '', '', '', 'The PD-L1-RFP fusion gene is constructed successfully and the fusion protein has biological activity.. '), ('5203', 'TIMM23_ARHGAP32', '', 'TIMM23', 'ARHGAP32', '23260012', '60', 'breast cancer\r\r', '', '', '', '', '', '', '', '', 'From this analysis we identified 9 expressed fusion genes: APPBP2-PHF20L1, BCAS3-HOXB9, COL14A1-SKAP1, TAOK1-PCGF2, TIAM1-NRIP1, TIMM23-ARHGAP32, TRPS1-LASP1, USP32-CCDC49 and ZMYM4-OPRD1. '), ('5204', 'TAOK1_PCGF2', '', 'TAOK1', 'PCGF2', '23260012', '60', 'breast cancer\r\r', '', 'Kinase', '', '', '', '', '', '', 'From this analysis we identified 9 expressed fusion genes: APPBP2-PHF20L1, BCAS3-HOXB9, COL14A1-SKAP1, TAOK1-PCGF2, TIAM1-NRIP1, TIMM23-ARHGAP32, TRPS1-LASP1, USP32-CCDC49 and ZMYM4-OPRD1. '), ('5205', 'SSX2_SS18', '', 'SSX2', 'SS18', '19417583', '60', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Reverse transcriptase polymerase chain reaction for the SS18/SSX1 and SS18/SSX2 fusion genes and fluorescent in-situ hybridization for SYT rearrangement was performed. '), ('5206', 'USP32_CCDC49', '', 'USP32', 'CCDC49', '23260012', '60', 'breast cancer\r\r', '', '', '', '', '', '', '', '', 'From this analysis we identified 9 expressed fusion genes: APPBP2-PHF20L1, BCAS3-HOXB9, COL14A1-SKAP1, TAOK1-PCGF2, TIAM1-NRIP1, TIMM23-ARHGAP32, TRPS1-LASP1, USP32-CCDC49 and ZMYM4-OPRD1. '), ('5207', 'FIM_FGFR1', 't(8;13) / t(8;13)  / ', 'FIM', 'FGFR1', '9576949', '59', 'mental retardation;myeloproliferative disorder', '', 'Kinase', '', '', '', '', '', '', 'The two reciprocal fusion transcripts, FIM/FGFR1 and FGFR1/FIM are expressed in the malignant cells.     ///    The FIM/FGFR1 fusion protein contains the FIM putative zinc finger motifs and the catalytic domain of FGFR1. '), ('5208', 'ZNF198_FGFR1', 't(8;13)  / t(8;13)(p11;q11-12) / ', 'ZNF198', 'FGFR1', '9425908', '59', 'myeloproliferative disorder;lymphoma\r\r', '', 'Kinase', '', '', '', '', 'KB', '', 'Transient expression studies show that the ZNF198-FGFR1 fusion transcript directs the synthesis of an approximately 87-kD polypeptide, localizing predominantly to the cytoplasm.     ///    Our studies demonstrate an FGFR1 oncogenic role and suggest a tumorigenic mechanism in which ZNF198-FGFR1 activation results from ZNF198 zinc-finger-mediated homodimerization.. '), ('5209', 'ETO_AML1', 't(8;21)  / t(9;22) / ', 'ETO', 'AML1', '10468864', '59', '', '', '', '', '', '', '', '', '', 'Reverse transcription-polymerase chain reaction revealed the AML1/ETO fusion transcript in the cells of blastic phase but not in those of chronic phase. '), ('5210', 'SYT_SSX', 'p11.2;q11.2 / ', 'SYT', 'SSX', '11107170', '59', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'This discovery enabled the detection of SYT-SSX fusion transcripts by specific reverse transcriptase-polymerase chain reactions.     ///    \"Together, these studies have provided mechanistic clues about how the SYT-SSX fusion proteins may trigger synovial sarcoma development.. \"'), ('5211', 'FUS_ERG', 't(16;21)(p11;q22) / ', 'FUS', 'ERG', '16737920', '59', 'acute myeloid leukemia;leukemia\r\r', 'RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', ' We report on a case of pediatric acute myelocytic leukemia showing 47,XX,+10,t(16;21)(p11;q22) that resulted in an unusual TLS/FUS-ERG chimeric transcript.     ///    \"Unusual type of TLS/FUS-ERG chimeric transcript in a pediatric acute myelocytic leukemia with 47,XX,+10,t(16;21)(p11;q22).. \"    ///    We also confirmed a very rare type of TLS/FUS-ERG chimeric transcript by fusion of the 5\' part of the TLS/FUS gene in chromosome 16p11 and the 3\' part of the ERG gene in chromosome 21q22 using reverse-transcriptase polymerase chain reaction and direct sequencing. '), ('5212', 'MOZ_CBP', 't(8;16)(p11;p13) / ', 'MOZ', 'CBP', '8782817', '59', '', '', '', '', '', '', '', '', '', 'In-frame MOZ-CBP fusion transcripts combine the MOZ finger motifs and putative acetyltransferase domain with a largely intact CBP.     ///    \"We suggest that MOZ may represent a chromatin-associated acetyltransferase, and raise the possibility that a dominant MOZ-CBP fusion protein could mediate leukaemogenesis via aberrant chromatin acetylation.. \"'), ('5213', 'NPM_ALK', 't(2;5)(p23;q25) / t(2;5) / ', 'NPM', 'ALK', '17612934', '58', 'anaplastic large cell lymphoma;anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Our data also suggested that the repression of the fusion gene might be a potential novel therapeutic strategy for NPM-ALK positive ALCLs..     ///    These results revealed the importance of continuous expression of NPM-ALK in maintaining the growth of ALCL cells.     ///    Further study demonstrated that the downregulation of NPM-ALK resulted in decreased cell proliferation and increased cell apoptosis.     ///    Downregulation of NPM-ALK by siRNA causes anaplastic large cell lymphoma cell growth inhibition and augments the anti cancer effects of chemotherapy in vitro..     ///    \"To examine if the NPM-ALK is a potential therapeutic target in ALCL, we used siRNA to specifically downregulate the expression of the NPM-ALK in ALCL cell lines. \"    ///    \"When used in combination with chemotherapeutic agents, such as doxorubicin, the inhibition of the NPM-ALK augments the chemosensitivity of the tumor cells. \"    ///    NPM-ALK is a constitutively activated kinase that transforms cells through stimulating several mitogenic signaling pathways. '), ('5214', 'TPM3_ALK', 't(2;5)(p23;q35) / t(1;2)(q25;p23) / ', 'TPM3', 'ALK', '17720243', '58', 'anaplastic large cell lymphoma;non Hodgkin lymphoma;lymphoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'One of these is the t(1;2)(q25;p23) which results in the formation of the chimeric protein TPM3-ALK.     ///    Our results demonstrate the overlapping and unique transcriptional patterns associated with the NPM-ALK and TPM3-ALK fusions in ALCL..     ///    \"While several of the signaling pathways induced by NPM-ALK have been elucidated, those involved in ALCLs harboring TPM3-ALK are largely unknown.\"    ///    \"While several of the signaling pathways induced by NPM-ALK have been elucidated, those involved in ALCLs harboring TPM3-ALK are largely unknown. \"    ///    Analysis of gene expression profile of TPM3-ALK positive anaplastic large cell lymphoma reveals overlapping and unique patterns with that of NPM-ALK positive anaplastic large cell lymphoma..     ///    \"In order to investigate the expression profiles of ALCLs carrying the NPM-ALK and TPM3-ALK fusions, we carried out cDNA microarray analysis of two ALCL tissue samples, one expressing the NPM-ALK fusion protein and the other the TPM3-ALK fusion protein.\"    ///    \"In order to investigate the expression profiles of ALCLs carrying the NPM-ALK and TPM3-ALK fusions, we carried out cDNA microarray analysis of two ALCL tissue samples, one expressing the NPM-ALK fusion protein and the other the TPM3-ALK fusion protein. \"'), ('5215', 'EWSR1_ATF1', '', 'EWSR1', 'ATF1', '25724038', '58', 'clear cell sarcoma;sarcoma\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'The etiology of CCSLGT is unknown, but many studies have shown associations with EWSR1-CREB1 gene fusions and, less frequently, with EWSR1-ATF1 fusions.    ///    \"The etiology of CCSLGT is unknown, but many studies have shown associations with EWSR1-CREB1 gene fusions and, less frequently, with EWSR1-ATF1 fusions. \"'), ('5216', 'TPM3_ALK', '', 'TPM3', 'ALK', '25596129', '58', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Lentivirus vectors containing a TPM3-ALK fusion gene lacking various lengths of TPM3 were constructed and expressed in HEK293T and NIH3T3 cell lines.     ///    The purpose of this study was to clarify the role of the TPM3 region in the transformation of IMT via TPM3-ALK.     ///    \"Western blot showed phosphorylation of ALK, ERK1/2, and STAT3 in HEK293T cells transfected with TPM3-ALK. \"    ///    Blue-native polyacrylamide gel electrophoresis (BN-PAGE) revealed that TPM3-ALK dimerization increased in proportion to the length of TPM3.     ///    Oncogenic TPM3-ALK activation requires dimerization through the coiled-coil structure of TPM3..     ///    \"Focus formation assay revealed loss of contact inhibition in NIH3T3 cells transfected with full-length TPM3-ALK, but not with ALK alone. \"    ///    \"Thus, the coiled-coil structure of TPM3 contributes to the transforming ability of the TPM3-ALK fusion protein, and longer TPM3 region leads to higher dimer formation.\"    ///    \"Thus, the coiled-coil structure of TPM3 contributes to the transforming ability of the TPM3-ALK fusion protein, and longer TPM3 region leads to higher dimer formation. \"'), ('5217', 'CD74_NRG1', '', 'CD74', 'NRG1', '26200269', '58', 'mucinous carcinoma', '', '', '', '', '', '', 'KB', '', '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.    ///    \"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. \"'), ('5218', 'SENP1_MESDC2', 't(12;15)(q13;q25) / ', 'SENP1', 'MESDC2', '15917269', '58', 'germ cell tumor', '', '', '', '', '', '', 'KB', '', 'Both reciprocal SENP1-MESDC2 (SEME) and MESDC2-SENP1 (MESE) fusion genes are transcribed in tumor-derived cells and their open reading frames encode aberrant proteins. '), ('5219', 'TEL_AML1', 't(12;21)(p13;q22) / ', 'TEL', 'AML1', '8704188', '58', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'TEL-AML1 fusion transcripts were searched for in the 39 adult- and 45 childhood-ALLs for which material was available.     ///    \"TEL-AML1 transcripts were detected in only 1 of 31 adult BCP-ALLs (P = .04, Fisher\'s exact test). \"    ///    \"We have evaluated the frequency of this newly described translocation in acute lymphoblastic leukemia (ALL), and the feasibility of minimal residual disease (MRD) monitoring by polymerase chain reaction (PCR) amplification of TEL-AML1 transcripts. \"    ///    TEL-AML1 transcripts were never found associated with any other fusion transcripts.     ///    \"Nevertheless, in this adult case, TEL-AML1 transcripts were found at a low level in 2 of 3 different samples. \"    ///    TEL-AML1 transcripts were found in 8 out of 35 (23%) childhood B-cell precursor ALLs (BCP-ALLs).     ///    \"No TEL-AML1 transcripts were detected in 11 T-cell ALLs (4 adults and 5 children), nor in 2 B-cell (slg+) ALLs. \"    ///    This study shows that TEL-AML1 transcripts are frequently detected in pediatric BCP-ALLs and that these transcripts are molecular targets that will simplify the strategy of MRD monitoring in childhood BCP-ALL..     ///    TEL-AML1 fusion RNA as a new target to detect minimal residual disease in pediatric B-cell precursor acute lymphoblastic leukemia.. '), ('5220', 'FUS_ATF1', '', 'FUS', 'ATF1', '25927151', '58', 'fibrous histiocytoma;histiocytoma\r\r', '', '', 'Oncogene', '', '', '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. '), ('5221', 'RAR_PML', '', 'RAR', 'PML', '22941525', '58', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia;neuroblastoma\r\r', '', '', 'Oncogene', '', '', '', '', '', 'The molecular hallmark of this disease is the presence of the promyelocytic leukemia (PML)-retinoic acid receptor-? (RAR ?) gene fusion that plays a critical role in promyelocytic leukemogenesis and represents the target of retinoid therapy. '), ('5222', 'BCR_ABL1', 't(10;22)(q11;q11) / t(6;10)(q27;q11) / ', 'BCR', 'ABL1', '22513837', '58', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Myeloproliferative neoplasms are frequently associated with aberrant constitutive tyrosine kinase (TK) activity resulting from chimaeric fusion genes or point mutations such as BCR-ABL1 or JAK2 V617F. '), ('5223', 'SEC16A_NOTCH1', '', 'SEC16A', 'NOTCH1', '22424054', '58', 'leukemia;breast cancer;sarcoma\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', '', 'KB', 'Seq', 'In the December 2011 issue of Nature Medicine, Robinson and colleagues reported many more gene fusions -including the first recurrent fusion, SEC16A-NOTCH1 - in breast cancers. '), ('5224', 'GAL1_BGAL11', '', 'GAL1', 'BGAL11', '3104037', '58', '', '', '', '', '', '', '', '', '', 'Characterization of an artificial bifunctional enzyme, beta-galactosidase/galactokinase, prepared by gene fusion..     ///    \" An artificial bifunctional enzyme, beta-galactosidase/galactokinase, has been prepared by gene fusion. \"    ///    \"beta-Galactosidase/galactokinase has different thermostability curves, pH/activity profiles and Km values as compared with the native enzymes. \"'), ('5225', 'TRIM4_BRAF', '', 'TRIM4', 'BRAF', '26200269', '58', 'mucinous carcinoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', '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. '), ('5226', 'TEL_AML1', '', 'TEL', 'AML1', '10348146', '58', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'This multiplex PCR enables the detection of M-BCR/ABL, m-BCR/ABL, TEL/ AML1, and MLL/AF4 fusion transcripts in one PCR reaction. '), ('5227', 'SSX2_SS18', '', 'SSX2', 'SS18', '16152617', '58', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', 'KB', 'Seq', '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.     ///    \"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.. \"'), ('5228', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '25977336', '58', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'NKX3.1 Suppresses TMPRSS2-ERG Gene Rearrangement and Mediates Repair of Androgen Receptor-Induced DNA Damage..     ///    Analysis of prostate cancer tissues showed that the presence of a TMPRSS2-ERG rearrangement was highly correlated with lower levels of NKX3.1 expression consistent with the role of NKX3.1 as a suppressor of the pathogenic gene rearrangement.. '), ('5229', 'VAMP2_NRG1', '', 'VAMP2', 'NRG1', '26200269', '58', 'mucinous carcinoma', '', '', '', '', '', '', '', '', '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. '), ('5230', 'BCR_ABL1', '', 'BCR', 'ABL1', '16598834', '58', '', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Commercial FISH probes showed an atypical pattern and the BCR/ABL fusion transcript was detected by RT-PCR, but not the reciprocal ABL/BCR. '), ('5231', 'RAR_PL', 't(15;17) / ', 'RAR', 'PL', '22562027', '58', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The secondary genetic changes other than the promyelocytic leukemia-retinoic acid receptor (PML-RARA) fusion gene may contribute to the acute promyelocytic leukemogenesis. '), ('5232', 'ETO_AML1', 't(8;21) / ', 'ETO', 'AML1', '26458322', '58', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'Western blotting and qRT-PCR analysis showed that protein levels of APP are significantly higher in Kasumi-1, a?t(8;21)/ AML1/ETO-positive M2-type AML cell line.     ///    \"These findings indicate that overexpression of APP is involved in promoting proliferation and migration of AML1/ETO-positive leukemia cells and can be inhibited by panobinostat, which provide an attractive prospect for treatment of AML1/ETO-positive AML. \"    ///    \"In this study, we attempted to define the roles of APP in AML1/ETO-positive leukemia cells. \"    ///    Increased expression of amyloid precursor protein promotes proliferation and migration of AML1/ETO-positive leukemia cells and be inhibited by panobinostat..     ///    Previously we found that overexpression of APP in patients with AML1/ETO-positive acute myeloid leukemia (AML) associated with a?higher incidence of extramedullary?infiltrationin and indicate a?poor prognosis. '), ('5233', 'MALT1_API2', 't(11;18)(q21;q21) / ', 'MALT1', 'API2', '22832211', '58', 'MALT lymphoma;B cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Unlike the majority of MALT lymphomas, tumors bearing the t(11;18)(q21;q21) resulting in production of a chimeric protein API2/MALT1 are often resistant to H.     ///    Introducing some of these components into treatment protocols for patients with API2/MALT1 translocation-positive MALT lymphomas might also prove to be benefitial for other lymphomas with increased number of intratumoral Tregs..     ///    Is it possible to overcome antiapoptotic API2/MALT1 events in tumor B-cells by influencing Tregs in MALT lymphoma?. '), ('5234', 'TS_DHFR', '', 'TS', 'DHFR', '12664159', '58', '', '', '', '', '', '', '', '', '', 'Irrespective of their precise position, our trees (together with previous evidence that Chlamydaster sterni has the derived dihydrofolate reductase/thymidylate synthetase gene fusion unique to bikonts) indicate that centrohelid heliozoa are ancestrally derived from a bikont flagellate by the loss of cilia. '), ('5235', 'TFE3_SFPQ', '', 'TFE3', 'SFPQ', '25048860', '57', 'kidney cancer', '', '', '', '', '', 'Transcription_Factor', '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.     ///    \"The recently published findings of The Cancer Genome Atlas Network reported that five of the 416 surveyed clear cell RCC tumours (1.2%) harboured SFPQ-TFE3 fusions, providing further evidence for the importance of gene fusions.\"    ///    \"The recently published findings of The Cancer Genome Atlas Network reported that five of the 416 surveyed clear cell RCC tumours (1.2%) harboured SFPQ-TFE3 fusions, providing further evidence for the importance of gene fusions. \"'), ('5236', 'FEV_EWS', 't(2;22) / t(3;18)(p21;q23) / ', 'FEV', 'EWS', '10976720', '57', 'ewing sarcoma;neuroectodermal tumor;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Soft tissue Ewing sarcoma--peripheral primitive neuroectodermal tumor with atypical clear cell pattern shows a new type of EWS-FEV fusion transcript..     ///    representing a new EWS-FEV fusion type in which exon 7 of EWS gene is fused with exon 2 of FEV gene.     ///    \"This is the third published study of an ES-pPNET showing EWS-FEV fusion described, but it is the first study of a tumor with the aforementioned fusion points. \"');
INSERT INTO `ChimerPub_dump` VALUES ('5237', 'TMPRSS2_ETV1', '', 'TMPRSS2', 'ETV1', '25780911', '57', 'prostate cancer;adenocarcinoma\r\r', '', '', '', '', '', '', 'KB', 'Seq', ' Gene fusions involving ETS family transcription factors (mainly TMPRSS2-ERG and TMPRSS2-ETV1 fusions) have been found in ~50% of human prostate cancer cases.     ///    \"We recently generated knockin mouse models for TMPRSS2-ERG and TMPRSS2-ETV1 fusions, utilizing the endogenous Tmprss2 promoter. \"    ///    \"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. \"'), ('5238', 'TFE3_NONO', '', 'TFE3', 'NONO', '25048860', '57', '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. '), ('5239', 'RET_PTC1', '', 'RET', 'PTC1', '24957039', '57', 'thyloid cancer\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC3 gene rearrangements were identified in 26/30 (86.67 %) cases, and none of the patient in our series had RET/PTC1 gene rearrangements.     ///    This present study aims at estimating the frequency of RET/PTC1 and RET/PTC3 gene rearrangements in Chennai population and investigating the correlation between RET/PTC gene expressions with clinical parameters.     ///    \"Thereafter, total RNA was isolated, and quantitative evaluation of RET/PTC1 and RET/PTC3 gene rearrangements by real-time PCR was performed. \"    ///    Prevalence of RET/PTC1 and RET/PTC3 gene rearrangements in Chennai population and its correlation with clinical parameters..     ///    Chi-square test was performed to understand the correlation between positive and negative mutations of RET/PTC messenger RNA (mRNA) expression with clinical parameters. '), ('5240', 'TAL1_SIL', '', 'TAL1', 'SIL', '14961040', '57', 'T ALL\r\r', 'PCR', '', '', '', '', 'Transcription_Factor', '', '', ' Current MRD studies in T-cell acute lymphoblastic leukemia (T-ALL) mainly use T-cell receptor gamma, delta and SIL-TAL1 gene rearrangements as MRD-PCR targets. '), ('5241', 'RAB2A_PLAG1', '', 'RAB2A', 'PLAG1', '24700772', '57', 'lipoblastoma\r\r', 'PCR', '', '', '', '', '', '', '', 'Sequence analysis revealed two novel fusion genes, COL3A1-PLAG1 in three cases and RAB2A-PLAG1 in one case, respectively. '), ('5242', 'BCL2_IGH', '', 'BCL2', 'IGH', '16532966', '57', 'B cell lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' To explore a sensitive and specific method for detection of bcl-2/IgH gene rearrangement in diffuse large B cell lymphoma (DLBCL), and verify the credibility of the established method.     ///    Fifty-two samples of pathologically diagnosed DLBCL and 10 fresh tonsil tissues were amplified using hemi-nested touch down-PCR to detect bcl-2/IgH gene rearrangement.     ///    There are false positive results using common primers for detecting bcl-2/IgH gene rearrangement.     ///    \"The positive PCR products were sequenced and analyzed on the Internet, 3 of 8 cases obtained by one-way method were false positive, 5 positive cases amplified using hemi-nested PCR were all bcl-2/IgH gene rearrangement. \"    ///    [Detection of bcl-2/IgH gene rearrangement in diffuse large B cell lymphoma by hemi-nested PCR]..     ///    bcl-2/IgH gene rearrangement was detected in 6 of 52 DLBCL samples and 2 of 10 fresh tonsil tissues using one-way method.     ///    bcl-2/IgH hemi-nested PCR primers were designed using the professional primer design software. '), ('5243', 'IGH_BCL2', '', 'IGH', 'BCL2', '21518492', '57', 'non Hodgkin lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'the factors related with occurrence of these 2 kinds of gene rearrangement were analyzed and the dynamic changes of BCL-2/IgH and IgH gene rearrangements after chemotherapy were compared, the chemotherapy effect was evaluated.     ///    \" This study was purposed to investigate the BCL-2/IgH gene rearrangement in major break point region (MBR) and IgH gene rearrangements of patients with non-Hodgkin\'s lymphoma (NHL), and explore their significance for improving early diagnosis and accurately evaluating chemotherapy effect. \"    ///    \"Lymphoma staging, systemic symptoms, ?(2)-MG level, bone marrow involvement, infiltration of liver and spleen were not significantly correlated with BCL-2/IgH gene rearrangement. \"    ///    \"It is concluded that the BCL-2/IgH and IgH gene rearrangements may be used as specific indicators in early diagnosis and accurate evaluation of therapy efficacy in B-NHL, these 2 kind of rearrangement correlate with LDH level. \"    ///    \"The results indicated that (1) BCL-2/IgH gene rearrangement in bone marrow mononuclear cells was observed in 10 cases out of 30 DLBCL cases (33.3%), and was more frequent than that in 30 other B-NHL cases (6.7%), 10 T-NHL cases (0%), 7 lymph nodes inflammatory cases (0%) and 20 healthy controls (5%) (p < 0.05). \"    ///    The BCL-2/IgH gene rearrangement is more specific for in DLBCL..     ///    [BCL-2/IgH and IgH gene rearrangements in bone marrow mononuclear cells of patients with non-Hodgkin\'s lymphoma]..     ///    \"(3) 81.8% patients with BCL-2/IgH gene rearrangement showed high serum LDH level, while it was observed in 28.6% patients without this gene rearrangement (p < 0.05). \"    ///    \"The BCL-2/IgH, IgH gene rearrangements were assayed by polymerase chain reaction (PCR), the assayed results were compared with results of pathological biopsy. \"    ///    (2) the quantity of rearranged BCL-2/IgH gene of 8 DLBCL cases reduced from 0.59 to 0.16 (p < 0.05) after 2 courses of R-CHOP chemotherapy and completely disappeared after 6 courses of R-CHOP chemotherapy.     ///    \"DNA for BCL-2/IgH and IgH gene assays was extracted from bone marrow mononuclear cells in 70 cases of lymphoma (60 cases of B-NHL and 10 cases of T-NHL), 7 cases of lymph node inflammatory and 20 healthy controls. \"'), ('5244', 'RET_PTC', '', 'RET', 'PTC', '23132790', '57', 'thyroid carcinoma;thyloid cancer\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'PTC, the most frequent thyroid carcinoma histotype, is associated with gene rearrangements that generate RET/PTC and TRK oncogenes and with BRAF-V600E and RAS gene mutations.     ///    \"In this study, we demonstrate that the BRAF-V600E, RET/PTC, and TRK oncogenes upregulate the ERK1/2 pathway\'s attenuator cytoplasmic dual-phase phosphatase DUSP6/MKP3 in thyroid cells. \"'), ('5245', 'PAX3_FOXO1', '', 'PAX3', 'FOXO1', '23435416', '57', 'rhabdomyosarcoma;sarcoma\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'Here we show that JARID2, which encodes a protein known to recruit various complexes with histone-methylating activity to their target genes, is significantly overexpressed in RMS with PAX3-FOXO1 compared with the fusion gene-negative RMS (t-test.     ///    \"JARID2 levels were altered by silencing or overexpressing PAX3-FOXO1 in RMS cell lines with and without the fusion gene, respectively. \"    ///    \"Therefore, JARID2 is a downstream effector of PAX3-FOXO1 that maintains an undifferentiated myogenic phenotype that is characteristic of RMS. \"    ///    \"Consistent with this, we demonstrated that JARID2 is a direct transcriptional target of the PAX3-FOXO1 fusion protein. \"    ///    The alveolar subtype is frequently associated with a PAX3-FOXO1 fusion protein that is known to contribute to the undifferentiated myogenic phenotype of RMS cells.     ///    JARID2 is a direct target of the PAX3-FOXO1 fusion protein and inhibits myogenic differentiation of rhabdomyosarcoma cells.. '), ('5246', 'RET_PTC3', '', 'RET', 'PTC3', '24957039', '57', 'thyloid cancer\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC3 gene rearrangements were identified in 26/30 (86.67 %) cases, and none of the patient in our series had RET/PTC1 gene rearrangements.     ///    This present study aims at estimating the frequency of RET/PTC1 and RET/PTC3 gene rearrangements in Chennai population and investigating the correlation between RET/PTC gene expressions with clinical parameters.     ///    Our results indicate that RET/PTC3 gene rearrangements are the most prevalent form of rearrangements in PTCs of Chennai population..     ///    Prevalence of RET/PTC1 and RET/PTC3 gene rearrangements in Chennai population and its correlation with clinical parameters..     ///    \"Thereafter, total RNA was isolated, and quantitative evaluation of RET/PTC1 and RET/PTC3 gene rearrangements by real-time PCR was performed. \"    ///    There was no statistically significant difference observed between positive and negative mutations of RET/PTC3 mRNA expression with clinic pathological parameters. '), ('5247', 'MLL_CBP', 't(11;16)  / ', 'MLL', 'CBP', '10970858', '57', 'acute myeloid leukemia;myelodysplastic syndrome', '', '', '', '', '', '', '', '', 'We show that transplantation of bone marrow retrovirally transduced with MLL-CBP induces myeloid leukemias in mice that are preceded by a long preleukemic phase similar to the myelodysplastic syndrome (MDS) seen in many t(11;16) patients but unusual for other MLL translocations.     ///    This suggests that the leukemic effect of MLL-CBP results from the fusion of the chromatin association and modifying activities of CBP with the DNA binding activities of MLL.. '), ('5248', 'ETO_AML1', 't(8;21)  / t(8;21) / ', 'ETO', 'AML1', '12732184', '57', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'To understand the contribution of the t(8;21) to AML, we transduced purified hematopoietic stem cells (HSC) with a retroviral vector that coexpressed AML1-ETO or just the AML1 portion (AML1d) of the translocation along with a green fluorescent protein reporter gene.     ///     Translocation of the ETO gene on human chromosome 8 with the AML1 gene on chromosome 21 (AML1-ETO) is a recurrent cytogenetic abnormality associated with approximately 12% of acute myelogenous leukemia (AML) cases.     ///    \"These phenotypes were not observed in animals reconstituted with cells expressing only the DNA-binding domain of AML1, suggesting that the ETO domain is necessary to establish the developmental abnormalities associated with AML1-ETO expression in HSC.. \"    ///    The ETO domain is necessary for the developmental abnormalities associated with AML1-ETO expression in the hematopoietic stem cell compartment in vivo.. '), ('5249', 'RET_PTC', '', 'RET', 'PTC', '24591770', '57', 'thyroid carcinoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'BRAF and RAS mutations and RET/PTC gene rearrangements were found in 65.1%, 0%, and 1.6% of papillary carcinomas, respectively. '), ('5250', 'CAD_ALK', '', 'CAD', 'ALK', '26633560', '57', 'colorectal cancer\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Novel CAD-ALK gene rearrangement is drugable by entrectinib in colorectal cancer..     ///    We describe the novel CAD-ALK rearrangement as an oncogene and provide the first evidence of its drugability as a new molecular target in CRC.. '), ('5251', 'FEV_EWS', '', 'FEV', 'EWS', '17690209', '56', '', '', '', '', '', '', '', '', '', 'We report four new cases of EFT-like tumors with rare EWS fusions, including two with EWS-ETV1, one with EWS-FEV, and a fourth case in which we cloned a novel EWS-SP3 fusion, the first known cancer gene fusion involving a gene of the Sp zinc finger family.     ///    Undifferentiated small round cell sarcomas with rare EWS gene fusions: identification of a novel EWS-SP3 fusion and of additional cases with the EWS-ETV1 and EWS-FEV fusions.. '), ('5252', 'SP3_EWS', '', 'SP3', 'EWS', '17690209', '56', '', '', '', '', '', '', '', '', '', 'Undifferentiated small round cell sarcomas with rare EWS gene fusions: identification of a novel EWS-SP3 fusion and of additional cases with the EWS-ETV1 and EWS-FEV fusions..     ///    \"We report four new cases of EFT-like tumors with rare EWS fusions, including two with EWS-ETV1, one with EWS-FEV, and a fourth case in which we cloned a novel EWS-SP3 fusion, the first known cancer gene fusion involving a gene of the Sp zinc finger family. \"    ///    \"EFT-like cases with fusions of EWS to non-ETS translocation partners are also uncommon but involve the same amino-terminal portion of EWS, which in our novel EWS-SP3 fusion is joined to the SP3 zinc-finger DNA-binding domain. \"'), ('5253', 'MYB_NFIB', '', 'MYB', 'NFIB', '23821214', '56', 'salivary gland cancers', '', '', '', '', '', '', 'KB', 'Seq', 'Examples of clinically significant gene fusions in salivary gland cancers are the MYB-NFIB fusion specific for adenoid cystic carcinoma, the CRTC1-MAML2 fusion typical of low/intermediate-grade mucoepidermoid carcinoma, and the recently identified ETV6-NTRK3 fusion in mammary analogue secretory carcinoma.    ///    \"Examples of clinically significant gene fusions in salivary gland cancers are the MYB-NFIB fusion specific for adenoid cystic carcinoma, the CRTC1-MAML2 fusion typical of low/intermediate-grade mucoepidermoid carcinoma, and the recently identified ETV6-NTRK3 fusion in mammary analogue secretory carcinoma. \"'), ('5254', 'EWS_ETV1', '', 'EWS', 'ETV1', '17690209', '56', '', '', '', '', '', '', '', '', '', 'Undifferentiated small round cell sarcomas with rare EWS gene fusions: identification of a novel EWS-SP3 fusion and of additional cases with the EWS-ETV1 and EWS-FEV fusions..     ///    \"We report four new cases of EFT-like tumors with rare EWS fusions, including two with EWS-ETV1, one with EWS-FEV, and a fourth case in which we cloned a novel EWS-SP3 fusion, the first known cancer gene fusion involving a gene of the Sp zinc finger family. \"'), ('5255', 'BCL2_MBR', 't(14;18) / t(14;18)  / ', 'BCL2', 'MBR', '8826892', '56', 'follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In 12 of these patients bcl-2/MBR translocation was found at diagnosis and used as a marker to detect the presence of residual lymphoma cells in serial bone marrow (BM) and peripheral blood (PB) samples. '), ('5256', 'HEAB_AF10', 'p12;q23q12 / ', 'HEAB', 'AF10', '8896421', '56', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'These results indicate that the AF10 gene is split into a 5\' AF10 and a 3\' AF10 portion by the 11q23q12 chromosome segment and that both breakpoint junctions result in fusion transcripts of 5\' AF10/HEAB and MLL/3\' AF10. '), ('5257', 'RET_PTC1', '', 'RET', 'PTC1', '24277231', '56', 'papillary carcinoma\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'In 11 cases, reverse transcription PCR was performed for the presence of PAX8-PPAR? and RET/PTC1-3 gene rearrangements.     ///    None of the studied 11 cases demonstrated RET/PTC1-3 gene rearrangement and in only one case PAX8-PPAR? gene rearrangement was found. '), ('5258', 'FLI1_EWSR1', '', 'FLI1', 'EWSR1', '10508522', '56', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', 'Seq', 'Introduction of EWSR1-FLI1 into cells lacking the EWSR1-FLI1 fusion suppresses TGF-beta RII expression, whereas antisense to EWSR1-FLI1 in ES cell lines positive for this gene fusion restores TGF-beta RII expression.     ///    \"It has been shown that transduction of the gene EWSR1-FLI1 (encoding EWS-FLI1 protein) can transform NIH3T3 cells, and that mutants containing a deletion in either the EWS domain or the DNA-binding domain in FLI1 lose this ability. \"    ///    \"Co-transfection of FLI1 and the TGFBR2 promoter induces promoter activity, whereas EWSR1-FLI1 leads to suppression of TGFBR2 promoter activity and FLI1-induced promoter activity. \"    ///    \"We show here that Ewing sarcoma [corrected] (ES) cell lines with the EWSR1-FLI1 fusion have reduced TGF-beta sensitivity, and that fusion-positive ES cells and primary tumours both express low or undetectable levels of TGFBR2 mRNA and protein product. \"'), ('5259', 'BRAF_AKAP9', '', 'BRAF', 'AKAP9', '20951315', '56', 'thyroid adenoma', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'These structural changes lead to the formation of fusion genes RET-PTC, TRK(-T), and BRAF-AKAP9, which originate as a result of intrachromosomal or interchromosomal rearrangements and are found in papillary thyroid carcinoma. '), ('5260', 'TCF4_PLEKHG3', 'del(14) / del(18) / inv(18) / t(14;18) / ', 'TCF4', 'PLEKHG3', '27179618', '56', '', 'PCR', '', '', '', '', 'Transcription_Factor', '', '', 'Although the derivative chromosome generated a PLEKHG3-TCF4 fusion transcript, the increased levels of TCF4 mRNA arose from transcript variants originating distal to the translocation breakpoint, not from the fusion transcript. '), ('5261', 'RAF1_ER', '', 'RAF1', 'ER', '8657119', '56', '', '', 'Kinase', '', '', '', '', '', '', 'To evaluate the role of Raf-1 in neuronal cell differentiation, we stably transfected H19-7 cells with v-raf or an oncogenic human Raf-1-estrogen receptor fusion gene (deltaRaf-1:ER). '), ('5262', 'ETO_AML1', '', 'ETO', 'AML1', '15968309', '56', 'acute lymphoblastic leukemia;chronic myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Ten fusion genes were detected in 115 cases of leukemia, including AML1/ETO, PML/RAR alpha, PLZF/RAR alpha, dupMLL, MLL/AF6, MLL/AF10, CBFbeta/MYH11, BCR/ABL, Hox11, and EVI1 BCR/ABL was positive in all the 52 cases of chronic myeloid leukemia.     ///    \"Fusion genes were also found in 2 MDS cases, of which AML1/ETO positive-MDS-RAEB progressed to AML rapidly. \"    ///    \"Sixteen cases of 17 AML1/ETO-positive acute leukemia (AL) belonged to FAB-M2 subtype, and one case was mixed leukemia. \"'), ('5263', 'BCL2_IGH', 't(14;18)  / ', 'BCL2', 'IGH', '8916960', '56', 'non Hodgkin Lymphoma', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', '18) translocation rather than by alteration of the hybrid bcl-2/IgH gene detected in the FL cells.     ///    \"In the case for which FL and DLL cells showed different bcl-2/IgH junctional sequences, DLL cells incorporated larger bcl-2 and Ig-joining (JH) gene fragments than the corresponding FL cells, suggesting that DLL clones developed by a distinct t(14. \"    ///    \"Polymerase chain reaction (PCR) amplification, cloning, and sequencing of the junctional region of the hybrid bcl-2/IgH genes showed identical nucleotide sequences in multiple biopsy specimens of FL that did not show morphologic transformation. \"    ///    \"In patients in whom FL cells underwent morphologic transformation, FL and autologous DLL cells displayed identical bcl-2/IgH gene nucleotide sequences in five cases and different sequences in one case. \"'), ('5264', 'P23_P15', 't(2;3)(p15-23;q26-27) / t(2;3) / ', 'P23', 'P15', '15085164', '56', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'Chromosomal translocations involving the short arm of chromosome 2 (p15-p23) and the distal part of the long arm of chromosome 3 (q26-q27) are a rare but recurrent finding in patients with myeloid malignancies, and are assumed to be part of this spectrum of disorders. '), ('5265', 'RARA_PLZF', '', 'RARA', 'PLZF', '15968309', '56', 'acute lymphoblastic leukemia;chronic myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'Ten fusion genes were detected in 115 cases of leukemia, including AML1/ETO, PML/RAR alpha, PLZF/RAR alpha, dupMLL, MLL/AF6, MLL/AF10, CBFbeta/MYH11, BCR/ABL, Hox11, and EVI1 BCR/ABL was positive in all the 52 cases of chronic myeloid leukemia.     ///    \"PML/RAR alpha was found in 21 of 25 acute promyelocytic leukemia (APL), and PLZF/RAR alpha was detected in one case of APL. \"'), ('5266', 'BCL2_IGH', 't(14;18)  / ', 'BCL2', 'IGH', '9160682', '56', 'follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'This population is thought to represent the progenitor stage at which the bcl-2/IgH translocation occurs.     ///    \"The unseparated BM mononuclear cell fraction from all 14 patients was positive for bcl-2/IgH using a nested PCR, but the BM-CD34+ cell fraction and the respective CD34+/CD19+ subset were negative in 13 of these 14 patients. \"    ///    Bone marrow (BM)-CD34+ cells were enriched from 14 patients with FL whose BM was known to be positive for bcl-2/IgH (major breakpoint region [MBR]). '), ('5267', 'MLL_AF10', '', 'MLL', 'AF10', '15968309', '56', 'acute lymphoblastic leukemia;chronic myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Ten fusion genes were detected in 115 cases of leukemia, including AML1/ETO, PML/RAR alpha, PLZF/RAR alpha, dupMLL, MLL/AF6, MLL/AF10, CBFbeta/MYH11, BCR/ABL, Hox11, and EVI1 BCR/ABL was positive in all the 52 cases of chronic myeloid leukemia. '), ('5268', 'MAML2_CRTC1', '', 'MAML2', 'CRTC1', '23821214', '56', 'salivary gland cancers', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Examples of clinically significant gene fusions in salivary gland cancers are the MYB-NFIB fusion specific for adenoid cystic carcinoma, the CRTC1-MAML2 fusion typical of low/intermediate-grade mucoepidermoid carcinoma, and the recently identified ETV6-NTRK3 fusion in mammary analogue secretory carcinoma. '), ('5269', 'BCL2_IGH', 't(14;18)  / t(14;18) / ', 'BCL2', 'IGH', '10631464', '56', 'follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Variability of polymerase chain reaction detection of the bcl-2-IgH translocation in an international multicentre study..     ///    The polymerase chain reaction to detect bcl-2-IgH rearrangements is presently carried out with widely disparate results. '), ('5270', 'TEL_RUNX1', '', 'TEL', 'RUNX1', '19403666', '56', 'B lymphocytic leukemia', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The TEL-RUNX1 fusion gene from acute B-lymphocytic leukemia retains almost all of the RUNX1 sequence but does not prevent B-cell proliferation in the same assay. '), ('5271', 'FUS_ERG', 't(16;21)(p11;q22) / ', 'FUS', 'ERG', '11340253', '55', 'leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Although we could not detect the TLS/FUS-ERG fusion transcripts by reverse transcriptase-polymerase chain reaction in pre-BMT remission phase, they were clearly detectable in bone marrow cells obtained 6 months after transplantation with no translocation detected by conventional cytogenetics. '), ('5272', 'EML4_ALK', '', 'EML4', 'ALK', '23328135', '55', 'small cell carcinoma;squamous cell carcinoma;lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Samples from 2 patients were evaluated for EML4-ALK gene rearrangements, both of which were adequate for analysis.     ///    \"We sought to evaluate the adequacy of ENB-obtained samples for histologic subtyping of lung cancer, epidermal growth factor receptor (EGFR) mutations, and echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase (EML4-ALK) translocations.\"    ///    \"ENB is effective at obtaining tissue samples adequate for histologic subtyping, EGFR mutation, and EML4-ALK translocation analysis.. \"    ///    \"We sought to evaluate the adequacy of ENB-obtained samples for histologic subtyping of lung cancer, epidermal growth factor receptor (EGFR) mutations, and echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase (EML4-ALK) translocations. \"    ///    Tissue adequacy for EGFR mutation and/or EML4-ALK analyses was also reviewed. '), ('5273', 'SYT_SSX1', '', 'SYT', 'SSX1', '14553945', '55', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Analysis by reverse transcriptase polymerase chain reaction showed the presence of the SYT-SSX1 fusion transcript in both the primary tumor and the cell line. '), ('5274', 'ALL1_AF4', '', 'ALL1', 'AF4', '9230194', '55', 'leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'These results were confirmed by direct sequencing of the ALL1/AF4 fusion transcript in 30 cases (19 infants and 11 child and adult de novo cases).     ///    ALL1 gene breakpoint distribution was determined by Southern blot hybridization and/or reverse transcription-PCR of the ALL1/AF4 fusion cDNA in 70 patients.     ///    \"The analysis of ALL1/AF4 junction types showed that children and adults with de novo leukemia had ALL1 breakpoints in intron 6 (9 cases) or intron 7 (2 cases), whereas breakpoints in infant cases were mainly located in intron 8 (14 cases) and less frequently in intron 6 (4 cases) and intron 7 (1 case). \"    ///    The difference in ALL1 breakpoint location between infant and noninfant AL patients with ALL1/AF4 fusion was statistically significant (P = 0.00005). '), ('5275', 'MYH11_CBFB', '', 'MYH11', 'CBFB', '19215788', '55', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'that rare fusion transcripts of CBFB/MYH11 are correlated with an atypical cytomorphology and other aberrant characteristics.     ///     We report on a 20-year-old man with acute myeloid leukemia (AML) showing a distinct novel CBFB/MYH11 variant fusion transcript.     ///    Detection of a novel CBFB/MYH11 variant fusion transcript (K-type) showing partial insertion of exon 6 of CBFB gene using two commercially available multiplex RT-PCR kits..     ///    \"Not only does this case show a partial insertion of exon 6 of the CBFB (ENSG00000067955) gene, but it also involves novel breakpoints within both exon 6 of the CBFB gene and exon 28 (previously exon 7) of the MYH11 (ENSG00000133392) gene, which is regarded as a previously non-reported, new type (K-type) of CBFB/MYH11 fusion transcript. \"    ///    \"Initial results of bone marrow, chromosome, and flow cytometric analyses were not in accordance with the diagnosis of acute myelomonocytic leukemia with eosinophilia (AML-M4Eo) or AML with a CBFB/MYH11 rearrangement. \"    ///    \"Therefore, multiplex RT-PCR and sequence analysis of these atypical products should be performed to diagnose atypical AML with CBFB/MYH11 rearrangement, to predict prognosis of these patients as well as to elucidate the molecular mechanism.. \"'), ('5276', 'CYP21P_CYP21', '6p21.3 / ', 'CYP21P', 'CYP21', '15684714', '55', 'congenital adrenal hyperplasia\r\r', '', '', '', '', '', '', '', '', 'However, multiple gene deletions in this region produce at least three categories of gene arrangements: (a) C4A-CYP21P/CYP21-TNXB, in which there is a CYP21P/CYP21 fusion gene.     ///    Most of these gene arrangements probably exist in the C4A-XCYP21-TNXB and C4A-CYP21P/CYP21-TNXB gene loci.     ///    Formation of the C4A-CYP21P/CYP21-TNXB locus produced four distinct CYP21P/CYP21 chimeras. '), ('5277', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '19642730', '55', 'prostate cancer;adenocarcinoma\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2:ERG gene rearrangement appears to be an early event in prostate cancer and is not observed in benign or hyperplastic prostatic epithelium.     ///    The relationship between TMPRSS2:ERG gene rearrangement and other morphologic and prognostic parameters of prostate cancer is still unclear..     ///    Duplication of TMPRSS2:ERG appears to predict a worse prognosis. '), ('5278', 'CYP21P_C4A', '6p21.3 / ', 'CYP21P', 'C4A', '15684714', '55', 'congenital adrenal hyperplasia\r\r', '', '', '', '', '', '', '', '', 'However, multiple gene deletions in this region produce at least three categories of gene arrangements: (a) C4A-CYP21P/CYP21-TNXB, in which there is a CYP21P/CYP21 fusion gene.     ///    Most of these gene arrangements probably exist in the C4A-XCYP21-TNXB and C4A-CYP21P/CYP21-TNXB gene loci.     ///    Formation of the C4A-CYP21P/CYP21-TNXB locus produced four distinct CYP21P/CYP21 chimeras. '), ('5279', 'TEL_AML1', 't(12;21)  / ', 'TEL', 'AML1', '20350423', '55', 'precursor B cell leukemia', '', '', '', '', '', '', '', '', 'Eighteen children were positive for TEL/AML1, 14 for E2A/PBX1, 11 for BCR/ABL,and 2 cases for MLL/AF4, and 35 cases were negative for all of the 4 fusion genes. '), ('5280', 'CYP21_C4A', '6p21.3 / ', 'CYP21', 'C4A', '15684714', '55', 'congenital adrenal hyperplasia\r\r', '', '', '', '', '', '', '', '', 'However, multiple gene deletions in this region produce at least three categories of gene arrangements: (a) C4A-CYP21P/CYP21-TNXB, in which there is a CYP21P/CYP21 fusion gene.     ///    Most of these gene arrangements probably exist in the C4A-XCYP21-TNXB and C4A-CYP21P/CYP21-TNXB gene loci.     ///    Formation of the C4A-CYP21P/CYP21-TNXB locus produced four distinct CYP21P/CYP21 chimeras. '), ('5281', 'TNXB_CYP21', '6p21.3 / ', 'TNXB', 'CYP21', '15684714', '55', 'congenital adrenal hyperplasia\r\r', '', '', '', '', '', '', '', '', 'However, multiple gene deletions in this region produce at least three categories of gene arrangements: (a) C4A-CYP21P/CYP21-TNXB, in which there is a CYP21P/CYP21 fusion gene.     ///    Most of these gene arrangements probably exist in the C4A-XCYP21-TNXB and C4A-CYP21P/CYP21-TNXB gene loci.     ///    Formation of the C4A-CYP21P/CYP21-TNXB locus produced four distinct CYP21P/CYP21 chimeras. '), ('5282', 'P160_P15', '', 'P160', 'P15', '9204978', '55', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Lack of ETV6 (TEL) gene rearrangements or p16INK4A/p15INK4B homozygous gene deletions in infant acute lymphoblastic leukemia..     ///    \"Therefore, ETV6 and p16(INK4A)/p15(INK4B) do not play a significant role in the pathogenesis of infant ALL, further emphasizing the distinctive biology of this subset of leukemias.. \"    ///    \"Using Southern blot analyses, we determined ETV6 and p16(INK4A)/p15(INK4B) gene status in a cohort of infant ALLs. \"'), ('5283', 'FUS_DDIT3', 't(12;16)  / t(12;22) / t(12;22)  / ', 'FUS', 'DDIT3', '17647282', '54', 'liposarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', '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.     ///    Nine FUS/DDIT3 and three EWSR1/DDIT3 variants of fusion transcripts have been described thus far.     ///    \"In contrast, 9 of 13 patients with type II FUS/DDIT3 translocations remained at 3 years disease-free (median disease-free survival 75 months). \"    ///    \"Since the total number of patients is still limited, further studies are required to verify a putative association of type I FUS/DDIT3-fusion transcripts with a prognosis of MRCL.. \"    ///    \"FUS/DDIT3 type II (exons 5-2) was most commonly detected (20 cases), followed by type I (7-2) (7 cases) and type III (8-2) (3 cases). \"    ///    \"Interestingly, five of six patients with type I (7-2) FUS/DDIT3 fusions displayed local recurrences and/or metastatic spread within the first 3 years, generally requiring chemotherapeutical treatment (median disease-free survival 17 months). \"    ///    \"In contrast, 9 of 13 patients with type II FUS/DDIT3 translocations remained at 3 years disease-free (median disease-free survival 75 months).\"    ///    \"FUS/DDIT3 type II (exons 5-2) was most commonly detected (20 cases), followed by type I (7-2) (7 cases) and type III (8-2) (3 cases).\"'), ('5284', 'PDGFRA_BCR', 't(4;22)(q12;q11) / t(9;22)(q34;q11) / t(9;22)  / ', 'PDGFRA', 'BCR', '12023981', '54', '', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'An unusual inframe BCR-PDGFRA fusion mRNA was identified in both patients, with either BCR exon 7 or exon 12 fused to short BCR intron-derived sequences, which were in turn fused to part of PDGFRA exon 12. '), ('5285', 'TEL_AML1', '', 'TEL', 'AML1', '16038737', '54', '', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'TEL/AML1 was detected by RT-PCR and FISH analysis in both events.     ///    This observation confirms that TEL/AML1 alone is not sufficient to trigger ALL and that TEL deletion is a secondary event in leukemogenesis.     ///    Late ovarian relapse of TEL/AML1 positive ALL confirming that TEL deletion is a secondary event in leukemogenesis..     ///    \"We demonstrated, using detection of IGH/TCR rearrangements and TEL/AML1 breakpoints sequencing that the cells were clonally related. \"'), ('5286', 'MLL_AF10', '', 'MLL', 'AF10', '26477762', '54', 'leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'The MLL-AF10 positive patients were mostly young men, the majority FAB classification was M5 or M4, often onset with fever, low white blood cells and low level of fusion gene, usually associated with WT1 mutation.     ///    [Clinical features and prognosis in MLL-AF10 positive acute leukemia]..     ///    \"6 cases with MLL-AF10 positive were analyzed retrospectively, related literatures were reviewed to clarify MLL-AF10 patients\'clinical features and prognosis. \"    ///    \"Conventional chemotherapy produced a high response rate, but easy to relapse, while the complex karyotype had a poor prognosis, allo-HSCT may have the potential to improve the prognosis of MLL-AF10 positive patients.. \"'), ('5287', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '22567356', '54', 'dermatofibrosarcoma,', '', '', 'Oncogene', '', '', '', 'KB', '', 'Cytogenetic and molecular genetic analyses have shown that many of these sarcomas are characterized by recurrent chromosomal translocations resulting in highly specific fusion genes (e.g., FUS-DDIT3 in MLS, FUS-CREB3L2 in LGFMS, EWSR1-NR4A3 in EMC, and COL1A1-PDGFB in myxoid DFSP). '), ('5288', 'FUS_CREB3L2', '', 'FUS', 'CREB3L2', '22567356', '54', 'dermatofibrosarcoma,', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Cytogenetic and molecular genetic analyses have shown that many of these sarcomas are characterized by recurrent chromosomal translocations resulting in highly specific fusion genes (e.g., FUS-DDIT3 in MLS, FUS-CREB3L2 in LGFMS, EWSR1-NR4A3 in EMC, and COL1A1-PDGFB in myxoid DFSP). '), ('5289', 'NR4A3_EWSR1', '', 'NR4A3', 'EWSR1', '22567356', '54', 'dermatofibrosarcoma,', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', '', 'Cytogenetic and molecular genetic analyses have shown that many of these sarcomas are characterized by recurrent chromosomal translocations resulting in highly specific fusion genes (e.g., FUS-DDIT3 in MLS, FUS-CREB3L2 in LGFMS, EWSR1-NR4A3 in EMC, and COL1A1-PDGFB in myxoid DFSP). '), ('5290', 'TEL_AML1', '', 'TEL', 'AML1', '19158828', '54', '', '', '', '', '', '', '', '', '', 'Although quantitative detection of clonal immunoglobulin (Ig) and T-cell receptor (TCR) gene rearrangements is currently considered to be the standard method, leukaemia fusion genes provide other possible targets for MRD follow-up, as already demonstrated in TEL/AML1-positive ALLs. '), ('5291', 'MLL_LPP', 't(3;11) (q28;q23) / t(3;11)(q28;q23) / ', 'MLL', 'LPP', '11433529', '53', 'leukemia;follicular lymphoma;lymphoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', '', 'The MLL-LPP and LPP-MLL predicted proteins contain many of the features present in other MLL rearrangements..     ///    \"Two in-frame MLL-LPP transcripts, which fuse MLL exon 8 to LPP exon 9, were detected by RT-PCR, although the smaller of these contained a deletion of 120 bp from the MLL sequence. \"    ///    \"A reciprocal LPP-MLL transcript, predicted to include the proline-rich and leucine zipper motifs, and the first LIM domain of LPP were also detected by RT-PCR. \"    ///    The predicted MLL-LPP fusion protein includes the A/T hook motifs and methyltransferase domain of MLL joined to the two last LIM domains of LPP. '), ('5292', 'EWSR1_ATF1', '', 'EWSR1', 'ATF1', '24702653', '53', 'fibrous histiocytoma;sarcoma;histiocytoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'RT-PCR confirmed EWSR rearrangement, and detected an EWSR1-ATF1 fusion transcript.    ///    \"RT-PCR confirmed EWSR rearrangement, and detected an EWSR1-ATF1 fusion transcript. \"'), ('5293', 'PPARG_PAX8', 't(2;3)(q13;p25) / ', 'PPARG', 'PAX8', '12161538', '53', 'thyroid carcinoma\r\r', 'PCR;RT-PCR', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Our findings that PAX8-PPAR gamma 1 rearrangements are present in both follicular carcinomas and adenomas suggest that this oncogene is not a reliable marker to differentiate between FTC and FTA in fine-needle aspiration biopsies of follicular neoplasms of the thyroid..     ///    Expression of PAX8-PPAR gamma 1 rearrangements in both follicular thyroid carcinomas and adenomas..     ///    PAX8-PPAR gamma 1 rearrangements were detected by RT-PCR in 5 of 9 (56%) FTC and in 2 of 16 (13%) FTA.     ///    \"In this study, we have combined RT-PCR with primers in exons 4-8 of PAX8 and in exon 1 of PPAR gamma 1 with PPAR gamma immunohistochemistry to study PAX8-PPAR gamma 1 oncogene activation in FTC (n = 9), FTA (n = 16), PTC (n = 9), anaplastic thyroid carcinomas (n = 4), and multinodular hyperplasias (n = 2). \"    ///    \"Diffuse nuclear staining for PPAR gamma was present in RT-PCR- negative cases of FTC (n = 3), FTA (n = 3), and PTC (n = 1), suggesting that a different PAX8-PPAR gamma 1 breakpoint, a rearrangement between PPAR gamma 1 and a non-PAX8 partner, or overexpression of the native protein might be present. \"'), ('5294', 'SYT_SSX2', 'p11;q11 / ', 'SYT', 'SSX2', '9428816', '53', 'synovial sarcoma;sarcoma\r\r', 'RT-PCR', '', '', '', '', '', '', '', 'The SYT-SSX1 and SYT-SSX2 fusion transcripts were detected in 29 (64 percent) and 16 (36 percent) of the tumors, respectively.     ///    \"biphasic) and SSX1 or SSX2 involvement in the fusion transcript: all 12 biphasic synovial sarcomas had a SYT-SSX1 fusion transcript, and all 16 tumors that were positive for SYT-SSX2 were monophasic. \"    ///    SYT-SSX1 and SYT-SSX2 are thought to tunction as aberrant transcriptional regulators.     ///    Kaplan-Meier analysis of 39 patients with localized tumors showed that the 15 patients with SYT-SSX2 had significantly better metastasis-free survival than the 24 patients with SYT-SSX1 (P=0.03 by multivariate analysis. '), ('5295', 'FUS_ERG', 't(16;21)(p11;q22) / t(16;21)  / t(16;21) / ', 'FUS', 'ERG', '24374719', '53', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'The TLS/FUS-ERG fusion transcript was detected in all diagnostic and relapsed samples, with the exception of one relapsed sample.     ///    TLS/FUS-ERG chimeric fusion transcript resulting from translocation changes involving chromosomes 16 and 21 is a rare genetic event associated with acute myeloid leukemia (AML).    ///     TLS/FUS-ERG chimeric fusion transcript resulting from translocation changes involving chromosomes 16 and 21 is a rare genetic event associated with acute myeloid leukemia (AML). '), ('5296', 'NFIB_HMGIC', '9p24.1 / p23;q12q15 / ', 'NFIB', 'HMGIC', '9484777', '53', 'pleomorphic adenoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The reciprocal NFIB/HMGIC fusion transcript, however, could not be detected in any of these tumors. '), ('5297', 'SYT_SSX1', 'p11.2;q11.2 / ', 'SYT', 'SSX1', '7539744', '53', 'synovial sarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', 'PCR analysis demonstrates the presence of SYT-SSX1 or SYT-SSX2 fusion transcripts in 29 of 32 of the synovial sarcomas examined, indicating that the detection of these hybrid transcripts by PCR may represent a very useful diagnostic method.     ///    Sequence analysis has demonstrated heterogeneity in the fusion transcripts with the formation of two distinct SYT-SSX1 fusion junctions and two distinct SYT-SSX2 fusion junctions.. '), ('5298', 'PDGFB_COL1A1', 't(17;22)(q22;q13) / ', 'PDGFB', 'COL1A1', '12641779', '53', 'dermatofibrosarcoma protuberans;sarcoma\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', '', 'KB', '', 'This investigation evaluated seven DFSPs (four vulvar and three groin) for the presence of COL1A1-PDGFB fusion transcripts by reverse transcriptase-polymerase chain reaction (RT-PCR), using archival formalin-fixed, paraffin-embedded tissue.     ///    Dermatofibrosarcoma protuberans of the vulva and groin: detection of COL1A1-PDGFB fusion transcripts by RT-PCR..     ///    \"Six of seven cases (three vulvar, three groin) contained a COL1A1-PDGFB fusion transcript. \"    ///    \"This investigation evaluated seven DFSPs (four vulvar and three groin) for the presence of COL1A1-PDGFB fusion transcripts by reverse transcriptase-polymerase chain reaction (RT-PCR), using archival formalin-fixed, paraffin-embedded tissue.\"    ///    \"As in DFSP at other sites, COL1A1- PDGFB chimeric fusion transcripts are present in vulvar and groin DFSP. \"'), ('5299', 'SYT_SSX2', 'p11.2;q11.2 / ', 'SYT', 'SSX2', '7539744', '53', 'synovial sarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', 'PCR analysis demonstrates the presence of SYT-SSX1 or SYT-SSX2 fusion transcripts in 29 of 32 of the synovial sarcomas examined, indicating that the detection of these hybrid transcripts by PCR may represent a very useful diagnostic method.     ///    Sequence analysis has demonstrated heterogeneity in the fusion transcripts with the formation of two distinct SYT-SSX1 fusion junctions and two distinct SYT-SSX2 fusion junctions.. '), ('5300', 'SYT_SSX1', 'p11;q11 / ', 'SYT', 'SSX1', '9428816', '53', 'synovial sarcoma;sarcoma\r\r', 'RT-PCR', '', '', '', '', '', '', '', 'The SYT-SSX1 and SYT-SSX2 fusion transcripts were detected in 29 (64 percent) and 16 (36 percent) of the tumors, respectively.     ///    \"biphasic) and SSX1 or SSX2 involvement in the fusion transcript: all 12 biphasic synovial sarcomas had a SYT-SSX1 fusion transcript, and all 16 tumors that were positive for SYT-SSX2 were monophasic. \"    ///    SYT-SSX1 and SYT-SSX2 are thought to tunction as aberrant transcriptional regulators.     ///    Kaplan-Meier analysis of 39 patients with localized tumors showed that the 15 patients with SYT-SSX2 had significantly better metastasis-free survival than the 24 patients with SYT-SSX1 (P=0.03 by multivariate analysis. '), ('5301', 'HMGA2_EBF', '', 'HMGA2', 'EBF', '16276091', '53', '', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Two versions of an HMGA2/EBF fusion transcript were detected in one case.     ///    \"Identical EBF/BC058822 fusion transcripts, seen in two cases, one of which also had the HMGA2/EBF transcript, were out of frame and resulted in truncation of EBF. \"'), ('5302', 'TTL_ETV6', 't(12;13)(p13;q14) / ', 'TTL', 'ETV6', '12764377', '53', 'hematologic malignancy', 'PCR', '', '', '', '', '', '', '', 'In leukemic cells from the patient, both reciprocal fusion transcripts, ETV6/TTL and TTL/ETV6, were expressed.     ///    \"The predominant fusion transcript, TTL/ETV6-1, encodes a predicted 530 aa fusion protein containing 89 aa of the N-terminal TTL fusing to the helix-loop-helix domain and ETS-binding domain of ETV6. \"'), ('5303', 'NPM_ALK', 't(2;5)(p23;q35) / ', 'NPM', 'ALK', '9209648', '53', 'Hodgkin lymphoma', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'These data indicate that NPM/ALK fusion transcripts do not play an early role in the pathogenesis of HD.     ///    Whether the rare expression of NPM/ALK is the result of clonal heterogeneity or an indication for clonal evolution and progression toward ALCL can only be answered by the repeated analysis of indicator cases during the course of the disease..     ///    \"Since some cases of Hodgkin\'s disease (HD) and ALCL share common features, a common pathogenesis has been proposed in a report of the expression of NPM/ALK fusion mRNA in 11/13 Hodgkin\'s lymphomas. \"    ///    NPM/ALK fusion mRNA expression in Hodgkin and Reed-Sternberg cells is rare but does occur: results from single-cell cDNA analysis..     ///    We approached this question by micro-manipulatory isolation of single Hodgkin and Reed-Sternberg (H-RS) cells and subsequent RT-PCR amplification of NPM/ALK fusion cDNA from these single cells.     ///    \"In 4 out of 7 cases, NPM/ALK fusion cDNA was detected in the RNA from whole lymph node tissue. \"    ///    \"In 2 out of 9 cases, NPM/ALK fusion sequences were amplified from single H-RS cells, albeit in a very low frequency (< 5%). \"'), ('5304', 'SYT_SSX1', 'p11.2;q11.2 / ', 'SYT', 'SSX1', '10070316', '53', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Detection of SYT-SSX1/2 fusion transcripts by reverse transcriptase-polymerase chain reaction (RT-PCR) is a valuable diagnostic tool in synovial sarcoma..     ///    \"By using a sensitive reverse transcriptase-polymerase chain reaction (RT-PCR) protocol, specific SYT-SSX1/2 fusion transcripts were detected in 10 histopathologically confirmed synovial sarcomas. \"    ///    \"Furthermore, the established RT-PCR protocol was used to evaluate the feasibility of SYT-SSX1/2 fusion transcript detection for minimal residual disease analysis. \"    ///    \"These data suggest that the RT-PCR amplification of SYT-SSX1/2 fusion transcripts is a valuable tool in the differentiation of synovial sarcomas, especially in cases of equivocal morphology. \"'), ('5305', 'MLL_ELL', '', 'MLL', 'ELL', '22931641', '53', 'leukemia\r\r', 'PCR', '', '', '', '', '', 'KB', 'Seq', 'Four kinds of fusion gene types such as MLL-AF4, MLL-AF9, MLL-AF10, MLL-ELL could be detected in 54 samples, the sequencing of positive samples showed consistency of sequencing results with detection results. '), ('5306', 'SYT_SSX2', 'p11.2;q11.2 / ', 'SYT', 'SSX2', '10095437', '53', 'gastrointestinal cancer', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'One case of recurrent spindle cell sarcoma originally classified as a fibrosarcoma revealed a SYT-SSX2 fusion transcript.     ///    DNA sequencing of PCR products enabled the assignment of fusion transcripts to either the SYT-SSX1 or the SYT-SSX2 variant. '), ('5307', 'MALT1_API2', 't(11;18)(q21;q21) / ', 'MALT1', 'API2', '10751343', '53', 'lymphoma\r\r', '', '', '', '', '', '', '', '', 'To investigate the incidence of API2-MALT1 fusion transcripts among marginal zone lymphomas and to determine possible marginal zone lymphoma subtype associations, we used reverse transcriptase-polymerase chain reaction to analyze RNAs extracted from frozen tissue samples of 99 marginal zone lymphomas.     ///    \"API2-MALT1 fusion transcripts were detected in 12 of 57 extranodal marginal zone lymphomas (21%), but in none of the nodal or splenic cases. \"    ///    \"Incidence and subtype specificity of API2-MALT1 fusion translocations in extranodal, nodal, and splenic marginal zone lymphomas.. \"'), ('5308', 'USP9Y_TTTY15', '', 'USP9Y', 'TTTY15', '22349460', '53', '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. '), ('5309', 'BCR_ABL1', 'inv(16) / t(4;11)  / t(11;19) / ', 'BCR', 'ABL1', '23091311', '53', '', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Fifteen fusion transcripts were included: BCR-ABL1, PML-RARA, ZBTB16-RARA, RUNX1-RUNX1T1, CBFB-MYH11, DEK-NUP214, TCF3-PBX1, ETV6-RUNX1, MLL-AFF1, MLL-MLLT4, MLL-MLLT3, MLL-MLLT10, MLL-ELL, MLL-MLLT1, and MLL-MLLT6. '), ('5310', 'OGDH_FGFR2', '', 'OGDH', 'FGFR2', '26680454', '53', 'thyroid carcinoma;thyloid cancer\r\r', '', 'Kinase', '', '', '', '', '', '', 'We found novel anaplastic gene fusions including MKRN1-BRAF, FGFR2-OGDH and SS18-SLC5A11, all expressed in-frame fusions involving a known proto-oncogene. '), ('5311', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '11007035', '53', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Of the four responders based on bone marrow morphology, two achieved molecular remission (negative RT-PCR for PML- RAR alpha fusion transcripts) by the end of the second and third cycles of As2O3 therapy. '), ('5312', 'BCL2_IGH', 't(14;18)  / ', 'BCL2', 'IGH', '16297448', '53', 'follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In conclusion, clonal bcl-2/IgH rearrangements are indeed a very frequent observation in healthy individuals, and appear to be independent of age and gender in regard to presence and frequency.     ///    Frequency of the Bcl-2/IgH rearrangement in normal individuals: implications for the monitoring of disease in patients with follicular lymphoma.     ///    \"The bcl-2/IgH rearrangement in a population of 204 healthy individuals: occurrence, age and gender distribution, breakpoints, and detection method validity.. \"    ///    \" This study assessed prevalence, frequency, age and gender distribution and breakpoint locations, and detection method validity for the bcl-2/IgH rearrangement in 204 healthy individuals. \"'), ('5313', 'MLL_AF10', '', 'MLL', 'AF10', '22931641', '53', 'leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'Four kinds of fusion gene types such as MLL-AF4, MLL-AF9, MLL-AF10, MLL-ELL could be detected in 54 samples, the sequencing of positive samples showed consistency of sequencing results with detection results. '), ('5314', 'RSS_BCL2', 't(14;18)  / t(14;18) / ', 'RSS', 'BCL2', '11840271', '53', 'follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In both cases, a DJ(H) rearrangement could be detected 5\' of the J(H)-RSS/BCL2 junction.     ///    \"The formation of these J(H)RSS/BCL2 junctions provides direct evidence that BCL2 broken-ends are capable of joining to both products of V(D)J recombination, suggesting their presence in the RAG-mediated post-cleavage complex. \"'), ('5315', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '19592507', '53', '', '', '', '', '', '', '', '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. '), ('5316', 'SYT_SSX', 'p11.2;q11.2 / ', 'SYT', 'SSX', '9688183', '53', 'synovial sarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', 'Detection of the SYT-SSX fusion transcripts in formaldehyde-fixed, paraffin-embedded tissue: a reverse transcription polymerase chain reaction amplification assay useful in the diagnosis of synovial sarcoma..     ///    Fifteen other sarcomas and related tumors were negative for SYT-SSX fusion transcripts.     ///    The SYT-SSX fusion transcripts were detected in 21 of the 22 analyzed cases.     ///    \"In this study, we developed a polymerase chain reaction (PCR) assay to amplify SYT-SSX fusion transcripts. \"    ///    The PCR products were confirmed as SYT-SSX sequences by sequencing in five randomly selected cases. '), ('5317', 'SS18_SLC5A11', '', 'SS18', 'SLC5A11', '26680454', '53', 'thyroid carcinoma;thyloid cancer\r\r', '', '', '', '', '', '', '', '', 'We found novel anaplastic gene fusions including MKRN1-BRAF, FGFR2-OGDH and SS18-SLC5A11, all expressed in-frame fusions involving a known proto-oncogene. '), ('5318', 'MYC_IGH', 't(8;14)(q24;q32) / t(8;14) / ', 'MYC', 'IGH', '15257933', '53', 'T cell lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Combined polymerase chain reaction methods to detect c-myc/IgH rearrangement in childhood Burkitt\'s lymphoma for minimal residual disease analysis..     ///    Using the combined PCR methods the detection of c-myc/IgH reaches a level of sensitivity required for the evaluation of minimal residual disease (MRD) in BL patients.     ///    \"However, the investigation of 18 c-myc/IgH-positive BL patients with each breakpoint-specific nested PCR showed an inter-patient variability of sensitivity between 10(-3) and 10(-5). \"    ///    \"Due to the large variability of the breakpoint region, only the recently improved long-distance LD-polymerase chain reaction (PCR) allows the specific c-myc/IgH fusion to be identified at the genomic level. \"'), ('5319', 'SYT_SSX', 'p11.2;q11.2 / ', 'SYT', 'SSX', '10397263', '53', 'synovial sarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', 'We conclude that the findings suggest that the type of SYT-SSX fusion transcript determines the proliferation rate and is an important predictor of clinical outcome in patients with SS.. '), ('5320', 'EML4_ALK', '', 'EML4', 'ALK', '26682573', '52', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Alectinib is a highly selective ALK inhibitor and shows promising efficacy in non-small cell lung cancers (NSCLC) harboring the EML4-ALK gene rearrangement.'), ('5321', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '20099311', '52', 'papillary carcinoma\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Analysis for BRAF and RAS gene mutations and RET/PTC and PAX8/PPARgamma gene rearrangements were performed and correlated with the cytologic features and surgical pathology outcome. '), ('5322', 'PRCC_TFE3', '', 'PRCC', 'TFE3', '12766578', '52', 'alveolar soft part sarcoma;alveolar soft part sarcoma;sarcoma\r\r', '', '', '', '', '', '', 'KB', '', 'We performed immunohistochemistry using a polyclonal antibody to the C-terminal portion of TFE3 in 40 formalin-fixed, paraffin-embedded tumors characterized by TFE3 gene fusions, including 19 alveolar soft part sarcoma (of which nine were molecularly confirmed) and 21 renal carcinomas with cytogenetically confirmed characteristic Xp11.2 translocations and/or fusion transcripts involving TFE3 (11 PRCC-TFE3, 7 ASPL-TFE3, 3 PSF-TFE3).    ///    \"We performed immunohistochemistry using a polyclonal antibody to the C-terminal portion of TFE3 in 40 formalin-fixed, paraffin-embedded tumors characterized by TFE3 gene fusions, including 19 alveolar soft part sarcoma (of which nine were molecularly confirmed) and 21 renal carcinomas with cytogenetically confirmed characteristic Xp11.2 translocations and/or fusion transcripts involving TFE3 (11 PRCC-TFE3, 7 ASPL-TFE3, 3 PSF-TFE3). \"'), ('5323', 'NUT_BRD4', '', 'NUT', 'BRD4', '17934517', '52', '', '', 'Kinase', '', '', '', '', 'KB', '', 'The BRD3-NUT fusion gene encodes a protein composed of two tandem chromatin-binding bromodomains, an extra-terminal domain, a bipartite nuclear localization sequence, and almost the entirety of NUT that is highly homologous to BRD4-NUT.     ///    \"Consistent with this idea, FRAP studies show that BRD4, BRD4-NUT and BRD3-NUT have significantly slower rates of lateral nuclear diffusion than that of NUT. \"    ///    \"In contrast, BRD3-NUT and BRD4-NUT are strictly nuclear, implying that the BRD moiety retains NUT in the nucleus via interactions with chromatin. \"    ///    \"To investigate the functional role of BRD-NUT fusion proteins in NMCs, we investigated the effects of siRNA-induced BRD3-NUT and BRD4-NUT withdrawal. \"'), ('5324', 'PSF_TFE3', '', 'PSF', 'TFE3', '12766578', '52', 'alveolar soft part sarcoma;alveolar soft part sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'We performed immunohistochemistry using a polyclonal antibody to the C-terminal portion of TFE3 in 40 formalin-fixed, paraffin-embedded tumors characterized by TFE3 gene fusions, including 19 alveolar soft part sarcoma (of which nine were molecularly confirmed) and 21 renal carcinomas with cytogenetically confirmed characteristic Xp11.2 translocations and/or fusion transcripts involving TFE3 (11 PRCC-TFE3, 7 ASPL-TFE3, 3 PSF-TFE3).    ///    \"We performed immunohistochemistry using a polyclonal antibody to the C-terminal portion of TFE3 in 40 formalin-fixed, paraffin-embedded tumors characterized by TFE3 gene fusions, including 19 alveolar soft part sarcoma (of which nine were molecularly confirmed) and 21 renal carcinomas with cytogenetically confirmed characteristic Xp11.2 translocations and/or fusion transcripts involving TFE3 (11 PRCC-TFE3, 7 ASPL-TFE3, 3 PSF-TFE3). \"'), ('5325', 'FEV_EWSR1', '', 'FEV', 'EWSR1', '24898918', '52', 'ewing sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', '', 'Tumours were investigated by means of immunohistochemistry, RT-PCR (EWSR1-FLI1, EWSR1-ERG and EWSR1-FEV transcripts), FISH analysis (EWSR1 break-apart and specific EWSR1-FEV translocation) and spectral karyotyping (SKY).     ///    \"FISH identified EWSR1 rearrangement in all cases, with EWSR1-FLI1 transcripts being detected in all but one tumour showing the uncommon EWSR1-FEV rearrangement, with SKY, RT-PCR and FISH confirmation. \"    ///    \"Most primary Ewing sarcomas of the ileum show the common EWSR1-FLI1 translocation, but EWSR1-FEV could be specific for tumours arising in the ileum and showing better prognosis..\"    ///    \"EWSR1-FEV translocation is exceedingly rare in Ewing sarcoma, as FEV expression is restricted to prostate, brain and serotonin neuroendocrine cells (NE) and related tumours. \"    ///    Ten ileal neuroendocrine tumours (INET) made up the control group for EWSR1-FEV translocation.     ///    \"Most primary Ewing sarcomas of the ileum show the common EWSR1-FLI1 translocation, but EWSR1-FEV could be specific for tumours arising in the ileum and showing better prognosis.. \"    ///    \"Ewing sarcoma of the small bowel: a study of seven cases, including one with the uncommonly reported EWSR1-FEV translocation.. \"    ///    \"The mean survival of EWSR1-FLI1 patients was 14?months, whereas the EWSR1-FEV patient was alive after 15?years despite several recurrences controlled by surgery alone. \"'), ('5326', 'TFE3_ASPL', '', 'TFE3', 'ASPL', '12766578', '52', 'alveolar soft part sarcoma;alveolar soft part sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'We performed immunohistochemistry using a polyclonal antibody to the C-terminal portion of TFE3 in 40 formalin-fixed, paraffin-embedded tumors characterized by TFE3 gene fusions, including 19 alveolar soft part sarcoma (of which nine were molecularly confirmed) and 21 renal carcinomas with cytogenetically confirmed characteristic Xp11.2 translocations and/or fusion transcripts involving TFE3 (11 PRCC-TFE3, 7 ASPL-TFE3, 3 PSF-TFE3). '), ('5327', 'BCR_ABL1', '', 'BCR', 'ABL1', '23986553', '52', 'essential thrombocythemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Polycythaemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (MF), are the most common myeloproliferative neoplasms (MPN) in patients without the BCR-ABL1 gene rearrangement. '), ('5328', 'IGH_BCL2', '', 'IGH', 'BCL2', '15143340', '52', 'non Hodgkin lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Although most cases presented multiple Bcl-2/IgH gene rearrangements and appeared to be polyclonal, oligoclonal expansion was identified in one out of eight patients, yet was not associated with clinical aggressiveness.     ///    The occasional reports of oligoclonal IgH and Bcl-2/IgH rearrangements in this disorder suggest that polyclonal expansion may be followed by the emergence of a predominant clone.     ///    \"Indeed, because of the association of Bcl-2/IgH rearrangement and cytogenetic abnormalities, such cases may be misdiagnosed as the leukemic phase of a non-Hodgkin\'s lymphoma. \"'), ('5329', 'TEL_AML1', '', 'TEL', 'AML1', '22052678', '52', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Finally, CD304 was repeatedly expressed in patients with TEL-AML1 gene rearrangement, which warrants further investigation on its potential relevance as a prognosis marker or therapeutic target.. '), ('5330', 'MYC_BCL2', '', 'MYC', 'BCL2', '25314782', '52', 'myelodysplastic syndrome;leukemia;B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'There are most common cases of MYC/8q24 and BCL2/18q21 gene rearrangements (MYC/BCL-2 DH lymphoma).     ///    \"The paper describes the experience in successfully treating a patient with two hematologic tumors: 1) MYC/BCL-2 DH lymphoma with high-dose PCT cycles, followed by allo-SCT, and 2) a metachronously developed second tumor (acute myelomonoblastic leukemia (AMML)) with CT cycles, followed by auto-SCT. \"'), ('5331', 'PRB2_P130', '', 'PRB2', 'P130', '7923196', '52', 'retinoblastoma\r\r', '', '', '', '', '', '', '', '', 'In addition, in the nasopharyngeal carcinoma derived cell line HONE-1, we identified a low level of expression of p130/pRb2, possibly due to gene rearrangement, and a drastic reduction in proliferation upon introduction of a constitutive active p130/pRb2 complementary DNA clone.     ///    In this study we demonstrate that the introduction of our recently cloned Rb family member p130/pRb2 causes growth arrest in three tumor cell lines.     ///    \"Furthermore, we were able to dissect distinct properties of the Rb family by demonstrating that p130/pRb2 inhibits proliferation of the glioblastoma cell line T98G, which is resistant to the growth suppressive effects of both pRb and p107. \"    ///    p130/pRb2 has growth suppressive properties similar to yet distinctive from those of retinoblastoma family members pRb and p107.. '), ('5332', 'TRNQ_TRNI', '', 'TRNQ', 'TRNI', '24438289', '52', '', '', '', '', '', '', '', '', '', 'The gene order is different from that of the putative ancestral arrangement of insects with a tRNA gene rearrangement, trnQ-trnI. '), ('5333', 'SYT_SSX', '', 'SYT', 'SSX', '21281530', '52', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'One case of primary cervical tracheal monophasic synovial sarcoma diagnosed by SYT-SSX gene rearrangement.     ///    Primary cervical tracheal monophasic synovial sarcoma confirmed by  SYT-SSX gene rearrangement..     ///    Diagnosis is confirmed by demonstrating the SYT-SSX gene rearrangement. '), ('5334', 'EWS_CHOP', 't(12;16)  / ', 'EWS', 'CHOP', '11229517', '52', 'liposarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Among the 4 myxoid LS without Southern blot evidence of TLS rearrangement, 1 showed an EWS-CHOP fusion by Southern blotting and reverse transcriptase-polymerase chain reaction and in another case, reverse transcriptase-polymerase chain reaction detected a TLS-CHOP fusion transcript.     ///    The prevalence of the EWS-CHOP variant fusion was approximately 2% in this series.     ///    \"We wished to address the following questions: (i) Is this genetic hallmark also present in other types of LS with predominant myxoid change? (ii) What is the proportion of cases with the variant EWS-CHOP fusion? (iii) What is the optimal approach for Southern blot detection of TLS breakpoints? We identified 59 LS characterized histologically by >90% myxoid component, in which frozen tissue tumor was available for DNA extraction. \"'), ('5335', 'RET_PTC', '', 'RET', 'PTC', '12383219', '52', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The RET/PTC gene rearrangement is highly specific for papillary thyroid carcinoma and is associated with the characteristic nuclear features seen in papillary thyroid carcinoma. '), ('5336', 'RET_PTC3', '', 'RET', 'PTC3', '26575115', '52', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'BRAF V600E and NRAS codon 61 point mutations, RET/PTC1, RET/PTC3, and PAX8/PPAR? gene rearrangements were analyzed in thyroidectomy specimens. '), ('5337', 'BCL2_IG', '', 'BCL2', 'IG', '11552996', '52', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Multiple bcl-2/Ig gene rearrangements, a typical feature of PPBL, were identified in 8/10 individuals among first-degree relatives.     ///    Abnormality of the B-cell population is also evidenced by the presence of multiple bcl-2/Ig gene rearrangements and the finding of an additional long arm chromosome 3q+ (i3)(q10) within a significant proportion of B cells. '), ('5338', 'ALL1_AF4', '', 'ALL1', 'AF4', '16243790', '52', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Within B-lineage ALL, distinct signatures were associated with ALL1/AF4 and E2A/PBX1 gene rearrangements.     ///    Expression profiles associated with ALL1/AF4 and E2A/PBX1 are similar in adults and children. '), ('5339', 'EML4_ALK', '', 'EML4', 'ALK', '22787411', '52', 'non small cell lung cancer', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Maintenance therapy is emerging as a new option for patients, as are targeted therapies for particular molecular subtypes of nsclc, such as crizotinib in tumours harbouring the EML4-ALK gene rearrangement.. '), ('5340', 'TAL1_SIL', '', 'TAL1', 'SIL', '21880637', '52', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Patients were also investigated for NOTCH1, FBXW7, WT1, and JAK1 mutations together with CALM-AF10, SET-NUP214, and SIL-TAL1 gene rearrangements.     ///    \"NOTCH1 mutations, FBXW7 mutations, WT1 mutations, JAK1 mutations, SIL-TAL1 fusions, SET-NUP214 fusions and CALM-AF10 fusions were present in 44/96 (45.8%), 9/96 (9.4%), 4/96 (4.1%), 3/49 (6.1%), 9/48 (18.8%), 3/48 (6.3%) and 0/48 (0%) of patients, respectively. \"');
