INSERT INTO `ChimerPub_dump` VALUES ('5341', 'USP6_MYH9', '', 'USP6', 'MYH9', '25346123', '52', '', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Fifteen of these cases, which had available tissue, were also analysed for MYH9-USP6 fusion transcripts by reverse transcription-polymerase chain reaction (RT-PCR).     ///    \"Of these 15 cases, eight (8/15) showed MYH9-USP6 fusion transcript by RT-PCR. \"'), ('5342', 'SYT_SSX', '', 'SYT', 'SSX', '23260343', '52', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Clinical charts and histopathologic material with analysis for SYT/SSX gene rearrangement of 16 patients were reviewed. '), ('5343', 'BCL2_IG', '', 'BCL2', 'IG', '11380461', '52', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'B lymphocyte-associated cellular abnormalities, such as the occurrence of multi-lobed nuclei, increased bcl2/Ig gene rearrangements and the identification of an extra long-arm chromosome (i3)(q10) in the B-cell population, indicate that PPBL could be part of a multi-step process leading to the emergence of a malignant B lymphoproliferation. '), ('5344', 'MLL_AF4', '', 'MLL', 'AF4', '8673740', '52', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'AF4 mRNA is highly expressed in normal placental tissue which correlates with the newborn age of patients presenting with leukemia characterized by the MLL/AF4 gene rearrangement.. '), ('5345', 'ZNF198_FGFR1', '', 'ZNF198', 'FGFR1', '25563327', '52', 'myeloid leukemia;leukemia\r\r', '', 'Kinase', '', '', '', '', 'KB', '', 'A case with ZNF198-FGFR1 gene rearrangement presenting as acute eosinophil myeloid leukemia.. '), ('5346', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '25993147', '52', 'multiple endocrine neoplasia;neuroectodermal tumor', '', '', '', '', '', '', 'KB', 'Seq', 'Only WD-NETs arise in patients with inherited neuroendocrine neoplasia syndromes (e.g., multiple endocrine neoplasia type 1), and some common genetic alterations are site-specific (e.g., TMPRSS2-ERG gene rearrangement in PD-NECs arising in the prostate gland). '), ('5347', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '23997080', '52', 'Budd-Chiari syndrome;hepatic cirrhosis', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Molecular genetic analysis was negative for FIP1L1-PDGFRA gene rearrangement, but positive for JAK2V617F mutation. '), ('5348', 'SET_NUP214', '', 'SET', 'NUP214', '21880637', '52', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', 'KB', '', 'Patients were also investigated for NOTCH1, FBXW7, WT1, and JAK1 mutations together with CALM-AF10, SET-NUP214, and SIL-TAL1 gene rearrangements.     ///    \"Mutations of PHF6 are associated with mutations of NOTCH1, JAK1 and rearrangement of SET-NUP214 in T-cell acute lymphoblastic leukemia.. \"    ///    \"Overall, these results indicate that, in T-cell acute lymphoblastic leukemia, PHF6 mutations are a recurrent genetic abnormality associated with mutations of NOTCH1, JAK1 and rearrangement of SET-NUP214.. \"    ///    \"The molecular genetic markers most frequently associated with PHF6 mutations were NOTCH1 mutations (P=0.003), SET-NUP214 rearrangements (P=0.002), and JAK1 mutations (P=0.005). \"    ///    \"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. \"'), ('5349', 'ETO_AML1', '', 'ETO', 'AML1', '16266896', '52', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', ' In spite of the high complete remission rate that chemotherapy achieves in acute myeloid leukemia with AML1-ETO gene rearrangement, relapse is a major cause of treatment failure in this condition.     ///    RQ-PCR detected the reappearance of AML1-ETO fusion transcripts in both peripheral blood and bone marrow during apparent complete remission.     ///    Quantification of AML1-ETO fusion transcript as a prognostic indicator in acute myeloid leukemia..     ///    We aimed to determine a predictor of relapse with the real-time quantitative reverse transcription polymerase chain reaction (RQ-PCR) of AML1-ETO chimeric mRNA.     ///    Our findings indicate that regular monitoring of AML1-ETO chimeric transcript levels by RQ-PCR on bone marrow or peripheral blood samples could be extremely useful for the selection of high-risk patients and be an early predictor of relapse.. '), ('5350', 'RET_PTC', '', 'RET', 'PTC', '26635725', '52', 'thyroid carcinoma;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Rearranged during transfection (RET)/PTC gene rearrangements, RET mutations, BRAF mutations, RAS mutations, and vascular endothelial growth factor receptor 2 angiogenesis pathways are some of the known pathways determinant in the development of TC. '), ('5351', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '11526243', '52', 'acute myeloid leukemia;myeloid leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The translocation, which involves the AML1 gene on chromosome 21 and the ETO gene on chromosome 8, generates an AML1-ETO fusion transcription factor.     ///    \"Our results provide direct evidence that AML1-ETO is critical for causing myeloid leukemia, but one or more additional mutations are required for leukemogenesis. \"    ///    AML1-ETO expression is directly involved in the development of acute myeloid leukemia in the presence of additional mutations..     ///    \"The transgenic mice were healthy during their life spans, suggesting that AML1-ETO alone is not sufficient for leukemogenesis. \"'), ('5352', 'EML4_ALK', '', 'EML4', 'ALK', '20926402', '52', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Here, we review perspectives of biomarker-driven personalized therapy in NSCLC, with particular reference to the detection of EML4-ALK gene rearrangements. '), ('5353', 'SHH_GLI', '', 'SHH', 'GLI', '23442119', '52', 'esophageal atresia', '', '', '', '', '', '', '', '', 'These facts led us to hypothesize that Sonic hedgehog-GLI gene rearrangements are associated with EA in humans. '), ('5354', 'RET_PTC', '', 'RET', 'PTC', '26601537', '52', 'papillary adenoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', '[Pooled Analysis of RET/PTC Gene Rearrangement Rate in Sporadic and Radiogenic Thyroid Papillary Carcinoma]..     ///     The database of publications on molecular epidemiology of RET/PTC rearrangements in sporadic and radiogenic thyroid papillary carcinoma has been formed (197 sources at the end of 2014.     ///    \"The greatest increase in rate after irradiation was found for RET/PTC1, previously characterized in vitro as one of radiogenic types of RET/PTC.. \"    ///    \"For rates of RET/PTC1, RET/PTC3 and RET/PTC in total with respect to formed carcinoma striations the following values (pooling, in %) were obtained: sporadic, total--13.2. \"    ///    \"Based on this database a pooled analysis of data on the rates of RET/PTC1, RET/PTC3 and RET/PTC in total was conducted. \"'), ('5355', 'RET_PTC', '', 'RET', 'PTC', '26310016', '52', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', '[RET/PTC Gene Rearrangements in the Sporadic and Radiogenic Thyroid Tumors: Molecular Genetics, Radiobiology and Molecular Epidemiology]..     ///    \" A review of molecular genetic, radiobiological and molecular epidemiological studies of gene (chromosome) rearrangements RET/PTC in the cells of the thyroid gland as well as the laws in relation to radiation exposure in vitro, in vivo and human populations identified with them are submitted. \"    ///    \"The information about the history of the RET/PTC discovery, their types, carcinogenic potential and specificity both to tumor and non-tumor thyroid disease especially for papillary thyroid carcinoma are provided. \"    ///    Some information (three publications) about the possibility of RET/PTC induction by low doses of radiation with low LET (to 0.1 Gy) is given and it is concluded that their potential evidentiary is generally weak.     ///    \"The possibility of use of the RET/PTC presence or their frequencies as markers of the papillary thyroid carcinomas and, specifically, their radiogenic forms, is considered. \"    ///    The mechanisms of RET/PTC induction may be associated with DNA double strand breaks and oxidative stress.     ///    The data (seven studies) on the induction of RET/PTC after irradiation of tumor and normal thyroid cells in vitro and mice are reviewed.     ///    The achievements in the molecular epidemiology of RET/PTC frequency for exposed and unexposed cohorts are stated.     ///    The data on the c-RET gene and its chimeric constructs with the gene-donors (RET/PTC rearrangements) are considered. '), ('5356', 'RET_PTC', '', 'RET', 'PTC', '24405857', '52', 'thyroid carcinoma;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC and PAX8/PPAR? gene rearrangements. '), ('5357', 'RARA_PML', '', 'RARA', 'PML', '15218975', '52', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Tetraploid acute promyelocytic leukemia with double PML/RARA gene rearrangements successfully treated with all-trans retinoic acid.. '), ('5358', 'TEL_AML1', '', 'TEL', 'AML1', '16141323', '52', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'We therefore investigated BTK function in B cell precursor leukemia cells carrying a BCR-ABL1, E2A-PBX1, MLL-AF4, TEL-AML1, or TEL-PDGFRB gene rearrangement. '), ('5359', 'TEL_PDGFRB', '', 'TEL', 'PDGFRB', '16141323', '52', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', '', '', 'Receptor', '', '', '', 'We therefore investigated BTK function in B cell precursor leukemia cells carrying a BCR-ABL1, E2A-PBX1, MLL-AF4, TEL-AML1, or TEL-PDGFRB gene rearrangement. '), ('5360', 'RET_PTC', '', 'RET', 'PTC', '21511245', '52', 'thyroid nodule;thyroid carcinoma;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'BRAF(V600E) mutation or/and RET/PTC gene rearrangement have been detected in less than 25% of NI-PTC but in more than 75% of I-PTC. '), ('5361', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '24074533', '52', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'The TMPRSS2-ERG gene rearrangement is highly specific for prostate cancer. '), ('5362', 'SYK_ITK', '', 'SYK', 'ITK', '21429356', '52', 'T cell lymphoma;lymphoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Analysis of clonality and ITK/SYK gene rearrangement was conducted using PCR and RT-PCR assays, respectively.     ///    Neither of the current cases expressed ITK/SYK fusion transcripts. '), ('5363', 'CD8_CD4', '', 'CD8', 'CD4', '10534677', '52', 'T cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'CD4/CD8 ratios and T-cell gene rearrangements may be helpful in patient management..     ///    Clinical relapse was preceded by an increase in the CD4/CD8 ratio and by reappearance of the T-cell receptor gene rearrangement. '), ('5364', 'ETV6_ABL1', '', 'ETV6', 'ABL1', '19394693', '52', 'myeloproliferative disorder', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We describe a case of a 61-year-old female with a C-MPD associated with an ETV6/ABL gene rearrangement.     ///    Myeloproliferative disorder with eosinophilia and ETV6-ABL gene rearrangement: efficacy of second-generation tyrosine kinase inhibitors..     ///     ETV6/ABL is a rare gene rearrangement that has rarely been detected in Philadelphia-negative chronic myeloproliferative disorders (C-MPD) and found to have tyrosine kinase activity similar to the BCR/ABL fusion protein.     ///    \"After starting nilotinib 400mg orally twice daily, she achieved CCyR at 3, 6, and 11 months, suggesting that second-generation TKIs can result in favorable responses in patients with ETV6/ABL rearrangement who relapse after imatinib.. \"'), ('5365', 'RET_PTC', '', 'RET', 'PTC', '21339735', '52', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'PTC is associated with gene rearrangements generating RET/PTC and TRK oncogenes, and to the BRAFV600E activating point mutation. '), ('5366', 'RET_PTC', '', 'RET', 'PTC', '20099311', '52', 'papillary carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', '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. '), ('5367', 'BCA_ABL1', 't(9;22)  / ', 'BCA', 'ABL1', '21403427', '52', 'essential thrombocythemia\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', '', '', 'Peripheral blood neutrophil BCA-ABL fusion signals (FISH) were not detected. '), ('5368', 'RET_PTC', '', 'RET', 'PTC', '26575115', '52', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'We aimed to analyze the frequency of point mutations of BRAF and RAS genes, and RET/PTC, PAX8/PPAR? gene rearrangements in patients with acromegaly having differentiated thyroid cancers (DTC) and their relation with clinical and histological features.     ///    \"RET/PTC 1/ 3, PAX8/PPAR? gene rearrangements were not detected in any patient. \"    ///    \"BRAF V600E and NRAS codon 61 point mutations, RET/PTC1, RET/PTC3, and PAX8/PPAR? gene rearrangements were analyzed in thyroidectomy specimens. \"'), ('5369', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23334893', '52', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', ' ETS-related gene (ERG) protein is present in 40-70% of prostate cancer and is correlated with TMPRSS2-ERG gene rearrangements. '), ('5370', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '24764730', '52', 'leukemia;hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Five male patients with splenomegaly carried the FIP1L1-PDGFRA gene rearrangement.     ///     Eosinophilia associated with FIP1L1-PDGFRA rearrangement represents a subset of chronic eosinophilic leukemia and affected patients are sensitive to imatinib treatment.     ///    This study was undertaken to learn the prevalence and associated clinicopathologic and genetic features of FIP1L1-PDGFRA rearrangement in a cohort of 26 adult patients presenting with profound eosinophilia (>1.5x10(9)/L).     ///    Reverse-transcriptase polymerase chain reaction and gel electrophoresis were used for the detection of FIP1L1-PDGFRA rearrangement.     ///    This study indicates the need to do the FIP1L1-PDGFRA assay in patients with hypereosinophilic syndrome. '), ('5371', 'EWSR1_ERG', '', 'EWSR1', 'ERG', '24898918', '52', 'ewing sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', 'Seq', '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). '), ('5372', 'EML4_ALK', '', 'EML4', 'ALK', '23265700', '52', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Targeted therapy based on the presence of activating epidermal growth factor receptor (EGFR) activating mutations or EML4-ALK gene rearrangement is becoming standard practice with high median survival rates, up to 30 months. '), ('5373', 'TEL_AML1', '', 'TEL', 'AML1', '16493009', '52', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' In a retrospective analysis, we previously reported that children whose leukemia cells harbored the TEL/AML1 gene rearrangement have excellent outcomes.     ///    \"With a median follow-up of 5.2 years, the 5-year event-free survival for TEL/AML1-positive patients was 89% compared with 80% for TEL/AML1-negative B-precursor patients (P = .05). \"    ///    \"However, in a multivariable analysis, risk group (age and leukocyte count at diagnosis) and asparaginase treatment group, but not TEL/AML1 status, were found to be independent predictors of outcome. \"    ///    The 5-year overall survival rate was 97% among TEL/AML-positive patients compared with 89% among TEL/AML1-negative patients (P = .03).     ///    Prospective analysis of TEL/AML1-positive patients treated on Dana-Farber Cancer Institute Consortium Protocol 95-01..     ///    \"From 1996 to 2000, we conducted a prospective study to determine the incidence and outcomes of children with TEL/AML1-positive acute lymphoblastic leukemia (ALL). \"    ///    \"We conclude that TEL/AML1-positive patients have excellent outcomes, confirming our previous findings. \"'), ('5374', 'RET_PTC', '', 'RET', 'PTC', '23293329', '52', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In addition, there are many studies in the literature that propose a genetic link between HT and PTC involving the PI3K/Akt pathway and RET/PTC gene rearrangements. '), ('5375', 'EWS_ERG', '', 'EWS', 'ERG', '24293381', '52', 'ewing sarcoma', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'The aims of this study were (1) to present the diverse clinicopathological and molecular profile of EFTs in our settings, (2) to identify a pragmatic approach for diagnosing EFTs, especially for application of ancillary techniques, namely RT-PCR for specific transcripts (EWS-FLI1, EWS-ERG) and FISH for EWSR1 gene rearrangement, in certain cases and (3) to show the utility of tissue microarray in establishing a new FISH test.     ///    \"Fifty five tumors were EWS-FLI1 positive, while a single tumor was EWS-ERG positive. \"'), ('5376', 'FLI1_EWSR1', '', 'FLI1', 'EWSR1', '24898918', '52', 'ewing sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', 'Seq', '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.. \"    ///    \"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. \"'), ('5377', 'TEL_AML1', '', 'TEL', 'AML1', '17605858', '52', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', 'PCR', '', '', '', '', '', '', '', ' The study was aimed to investigate the relation between the expression level of TEL-AML1 (translocation ETS leukemia-acute myeloid leukemia 1) fusion gene and clinical characteristics as well as early response to treatment in children with ALL (acute lymphoblastic leukemia).     ///    \"In addition, presenting leukocyte count, blast percentage in PB and TEL-AML1 expression level at diagnosis may have an effect on MRD level to some extent.. \"    ///    [Relation between TEL-AML1 expression level and clinical characteristics as well as early response to treatment in children with acute lymphoblastic leukemia]..     ///    The results indicated that the expression levels of TEL-AML1 at diagnosis were 1.63 x 10(4) copies/10(4) copies ABL (median).     ///    The expression level of TEL-AML1 and clinical characteristics at diagnosis were compared between MRD negative and MRD positive patients.     ///    \"The relation between TEL-AML1 expression levels at diagnosis, MRD level and clinical characteristics as well as early response to treatment were also explored. \"    ///    No relation was found between expression levels of TEL-AML1 at diagnosis and clinical characteristics as well as MRD level.     ///    \"With real-time quantitative polymerase chain reaction (RQ-PCR), the expression level of TEL-AML1 at diagnosis and MRD (minimal residual disease) at the end of induction of remission were detected in 35 children with ALL, including 20 SR (standard risk) and 15 IR (intermediate risk) patients. \"    ///    TEL-AML1 expression level at diagnosis of MRD negative patients was lower than that of MRD positive ones.     ///    It is concluded that therapy after induction of remission is of importance by the fact that 45.71% children with TEL-AML1(+) ALL did not achieve molecular remission at the end of induction of remission. '), ('5378', 'MLL_AF5Q31', 't(4;11) / ', 'MLL', 'AF5Q31', '10588740', '51', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Furthermore, the clinical features of this patient with the MLL-AF5q31 fusion transcript, characterized by the early pre-B phenotype (CD10(-)/CD19(+)) and poor outcome, were similar to those of patients having MLL-AF4 chimeric transcripts. '), ('5379', 'PAX3_FKHR', 't(2;13)  / t(1;13)  / t(2;13) / ', 'PAX3', 'FKHR', '10700864', '51', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The differences in occurrence, reciprocity, and amplification between the PAX3-FKHR and PAX7-FKHR fusions indicate important differences in the mechanism of the two associated chromosomal translocation events..     ///    \"Furthermore, we detected PAX7-FKHR genomic amplification in 10 of 11 cases, in contrast with the < 5% frequency of PAX3-FKHR amplification. \"'), ('5380', 'PAX7_FKHR', 't(2;13)  / t(1;13)  / t(2;13) / ', 'PAX7', 'FKHR', '10700864', '51', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The differences in occurrence, reciprocity, and amplification between the PAX3-FKHR and PAX7-FKHR fusions indicate important differences in the mechanism of the two associated chromosomal translocation events..     ///    \"Furthermore, we detected PAX7-FKHR genomic amplification in 10 of 11 cases, in contrast with the < 5% frequency of PAX3-FKHR amplification. \"'), ('5381', 'RET_PTC', '', 'RET', 'PTC', '11117782', '51', 'papillary carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Because RET/PTC gene rearrangements are specific to papillary thyroid carcinoma, the authors examined the presence of RET/PTC-1, -2, and -3 in eight hyalinizing trabecular tumors using reverse transcription-polymerase chain reaction with Southern hybridization and immunohistochemistry.     ///    They detected the presence of a RET/PTC gene rearrangement in six of the eight hyalinizing trabecular tumors. '), ('5382', 'MBD3_MBD1', '', 'MBD3', 'MBD1', '24632574', '51', 'influenza', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Construction of eukaryotic expression vector with mBD1-mBD3 fusion genes and exploring its activity against influenza A virus..     ///    These observations suggested that the recombinant mBD1-mBD3 might be developed into an agent for influenza prevention and treatment..     ///    The eukaryotic expression vectors pcDNA3.1(+)/mBD1-mBD3 were constructed successfully by overlap-PCR and transfected into Madin-Darby canine kidney (MDCK) cells.     ///    \"The MDCK cells transfected by pcDNA3.1(+)/mBD1-mBD3 were obtained by G??? screening, and the mBD1-mBD3 stable expression pattern was confirmed in MDCK cells by RT-PCR and immunofluorescence assay. \"    ///    This study demonstrates that mBD1-mBD3 expressed by the recombinant plasmid pcDNA3.1(+)/mBD1-mBD3 could inhibit influenza A virus replication both in vitro and in vivo.     ///    \"Furthermore, BALB/C mice were injected with liposome-encapsulated pcDNA3.1(+)/mBD1-mBD3 through muscle and then challenged with the A/PR/8/34 virus. \"'), ('5383', 'CALM_AF10', 't(10;11)(p12-14;q14-21) / t(10;11)  / t(10;11) / ', 'CALM', 'AF10', '12555219', '51', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Reverse transcriptase-polymerase chain reaction (RT-PCR) assay revealed one type of CALM/AF10 and three types of AF10/CALM fusion transcripts.     ///    Monocytic leukemia with CALM/AF10 rearrangement showing mediastinal emphysema..     ///    Monocytic leukemias with CALM/AF10 fusion are frequently associated with mediastinal invasion. '), ('5384', 'BCR_ABL1', 't(9;22) / ', 'BCR', 'ABL1', '26799612', '51', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The molecular consequence of this translocation is the generation of a BCR-ABL1 fusion oncogene, which in turn translates into a BCR-ABL oncoprotein.     ///    \"Although second and third generation TKIs are potent and selective TKIs, they exhibit unique pharmacological profiles and response patterns relative to different patient and disease characteristics, such as patients\' comorbidities, disease stage, and BCR-ABL1 mutational status. \"'), ('5385', 'USP42_RUNX1', 't(7;21)(p22;q22) / t(7;21)  / ', 'USP42', 'RUNX1', '21319259', '51', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;ISH', '', 'Oncogene', '', '', 'Transcription_Factor', '', 'Seq', 'Sequence analysis of the reverse transcription-polymerase chain reaction products confirmed the presence of two in-frame RUNX1-USP42 and one reciprocal in-frame USP42-RUNX1 fusion transcripts. '), ('5386', 'SYT_SSX2', 'p11.2;q11.2 / ', 'SYT', 'SSX2', '11826189', '50', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'All 13 non-synovial sarcomas tested were negative for SYT-SSX1 and SYT-SSX2 fusion transcripts.     ///    Twenty-nine of 30 (96.7%) histologically diagnosed FFPE synovial sarcomas were positive for the presence of either the SYT-SSX1 or SYT-SSX2 fusion transcripts.     ///    \"We have developed a real-time, reverse transcriptase-polymerase chain reaction (RT-PCR) multiplex assay for the identification of the primary fusion transcript types (SYT-SSX1 and SYT-SSX2) from formalin-fixed, paraffin-embedded (FFPE) tissues. \"    ///    \"Twelve of 14 (85.7%) and 2 of 14 (14.3%) biphasic synovial sarcomas were positive for SYT-SSX1 and SYT-SSX2, respectively. \"    ///    \"Ten of 16 (62.5%) and five of 16 (31.25%) monophasic fibrous synovial sarcomas were positive for SYT-SSX1 and SYT-SSX2, respectively. \"'), ('5387', 'SSX2_SS18', '', 'SSX2', 'SS18', '15163009', '50', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', 'Seq', 'RT-PCR analysis and sequence analysis demonstrated the presence of SS18/SSX2 fusion gene. '), ('5388', 'PLAG1_CTNNB1', '', 'PLAG1', 'CTNNB1', '11894114', '50', 'pleomorphic adenoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'In addition, one of the tumors expressed a cryptic CTNNB1-PLAG1 fusion transcript. '), ('5389', 'SYT_SSX1', 'p11.2;q11.2 / ', 'SYT', 'SSX1', '11826189', '50', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Twenty-nine of 30 (96.7%) histologically diagnosed FFPE synovial sarcomas were positive for the presence of either the SYT-SSX1 or SYT-SSX2 fusion transcripts.     ///    All 13 non-synovial sarcomas tested were negative for SYT-SSX1 and SYT-SSX2 fusion transcripts.     ///    \"We have developed a real-time, reverse transcriptase-polymerase chain reaction (RT-PCR) multiplex assay for the identification of the primary fusion transcript types (SYT-SSX1 and SYT-SSX2) from formalin-fixed, paraffin-embedded (FFPE) tissues. \"    ///    \"Twelve of 14 (85.7%) and 2 of 14 (14.3%) biphasic synovial sarcomas were positive for SYT-SSX1 and SYT-SSX2, respectively. \"    ///    \"Ten of 16 (62.5%) and five of 16 (31.25%) monophasic fibrous synovial sarcomas were positive for SYT-SSX1 and SYT-SSX2, respectively. \"'), ('5390', 'PSIP1_NUP98', 't(9;11)(p22;p15) / ', 'PSIP1', 'NUP98', '21168209', '50', '', '', '', '', '', '', 'Transcription_Factor', '', '', 't(9;11)(p22;p15) [NUP98/PSIP1] is a poor prognostic marker associated with de novo acute myeloid leukaemia expressing both mature and immature surface antigens.. '), ('5391', 'TEL_AML1', 't(12;21)  / t(12;21) / ', 'TEL', 'AML1', '19813247', '50', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'CD10+ ancestor cells with germline antigen receptors, but silent TEL/AML1 expression, may reside in the lymphoid stem cell compartment of treated t(12;21)-positive patients and might act as a potential source of cells for late relapses..     ///    \"We monitored the responses of patients with pediatric acute lymphoblastic leukemia (pALL) using DNA markers, TEL/AML1 expression, and scanning fluorescence microscopy (SFM). \"'), ('5392', 'SYT_SSX', 'p11.2;q11.2 / ', 'SYT', 'SSX', '12063544', '50', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Reverse transcriptase-polymerase chain reaction (RT-PCR) demonstrated a SYT-SSX fusion transcript and expression of c-Met and HGF mRNA in FU-SY-1 cells. '), ('5393', 'SYT_SSX2', 'p11.2;q11.2 / ', 'SYT', 'SSX2', '27126659', '50', 'synovial sarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', 'RNA was purified from the tissue block sections and then subjected to One-step reverse transcriptase real-time PCR using sequence specific hydrolysis probes for simultaneous detection of either SYT-SSX1 or SYT-SSX2 fusion transcript. '), ('5394', 'PEBP2_MYH11', 't(16;16) (p13;q22) / inv (16)  / t(16;16)  / ', 'PEBP2', 'MYH11', '8779782', '50', 'leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'However, the PEBP2 beta/MYH11 fusion transcript was detected in the bone marrow mononuclear cells by using the reverse transcriptase-polymerase chain reaction (RT-PCR).     ///    [Detection of PEBP2 beta/MYH11 fusion mRNA in acute myelomonocytic leukemia without marrow eosinophilia].. '), ('5395', 'MALT1_API2', 't(11;18)(q21;q21) / ', 'MALT1', 'API2', '11159207', '50', 'MALT lymphoma;B cell lymphoma;lymphoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Using this rapid and simple method, we could detect API2-MALT1 fusion transcripts in 5 of 15 (33%) archival cases of MALT lymphoma for a frequency comparable with those of RT-PCR assays using frozen materials.     ///    API2-MALT1 fusion transcripts involved in mucosa-associated lymphoid tissue lymphoma: multiplex RT-PCR detection using formalin-fixed paraffin-embedded specimens..     ///    The lung was the preferential anatomical site of origin of MALT lymphomas harboring API2-MALT1 fusion.     ///    \"Our multiplex RT-PCR assay, which can be used for routinely-processed paraffin samples, should serve as a useful molecular tool for clarifying the clinicopathological significance of API2-MALT1 fusion in MALT lymphoma.. \"'), ('5396', 'RAR_PLZF', 't(11;17)  / t(11;17)(q23;q21) / ', 'RAR', 'PLZF', '23382200', '50', 'acute promyelocytic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'By using a murine leukemic model carrying both promyelocytic leukemia zinc finger/retinoic acid receptor-? (PLZF/RAR?) and RAR?/PLZF fusion genes, we discovered that 8-chlorophenylthio adenosine-3\', 5\'-cyclic monophosphate (8-CPT-cAMP) enhances cellular differentiation and improves gene trans-activation by ATRA in leukemic blasts.     ///    \"Mechanistically, in combination with ATRA, 8-CPT-cAMP activates PKA, causing phosphorylation of PLZF/RAR? at Ser765 and resulting in increased dissociation of the silencing mediator for retinoic acid and thyroid hormone receptors/nuclear receptor corepressor from PLZF/RAR?. \"'), ('5397', 'RET_PTC', '', 'RET', 'PTC', '10773666', '50', '', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', '', '', 'We have developed a dual-color FISH approach to detect RET/PTC rearrangements in interphase nuclei of thyroid lesions.     ///    \"Overall, the FISH approach in interphase nuclei represents a powerful tool for detecting, at the single cell level, RET/PTC rearrangements and other anomalies involving the RET chromosome region.. \"    ///    \"Three main rearranged forms of RET have been described: RET/PTC1 and RET/PTC3, which arise from a paracentric inversion of the long arm of chromosome 10, and RET/PTC2, which originates from a 10;17 translocation. \"    ///    \"Among PTCs, 13 (18.8%) showed a RET rearrangement, and 11 (15.9%) of these carried an inversion (RET/PTC1 or RET/PTC3) in more than 10% of the nuclei examined. \"'), ('5398', 'IGH_BCL2', 't(14;18)(q32;q21) / ', 'IGH', 'BCL2', '12139744', '50', 'follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In addition, to generate standard curves equating to diverse Bcl-2/IgH rearrangements, a strategy for using placental DNA as a surrogate standard was devised.     ///    JH probe real-time quantitative polymerase chain reaction assay for Bcl-2/IgH rearrangements..     ///    This alternative approach represents a sensitive and specific means of quantifying common and atypical Bcl-2/IgH rearrangements and maximizes the number of patients with FL suitable for molecular monitoring..     ///    \"The performance of the assay in detecting molecular evidence of disease in sequential biopsies from five patients (three with atypical Bcl-2/IgH breakpoints identified by long-range or inverse PCR, one MBR+ and one mcr+) was tested. \"    ///    \"Therefore, an RQ-PCR assay for the quantification of Bcl-2/IgH breakpoints has been developed that uses germline JH TaqMan probes and germline JH primers in combination with customized forward primers. \"'), ('5399', 'SYT_SSX', 'p11.2;q11.2 / ', 'SYT', 'SSX', '27126659', '50', 'synovial sarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', 'Of the 23 cases, 4 cases were found to be positive for SYT-SSX fusion transcript in which 2 were diagnosed as SS whereas in the 2 other cases, SS was the differential diagnosis.     ///    This study has shown that the application of One-Step reverse transcriptase real time PCR for the detection SYT-SSX transcript is feasible as an aid in confirming the diagnosis of synovial sarcoma..     ///    Detection of SYT-SSX mutant transcripts in formalin-fixed paraffin-embedded sarcoma tissues using one-step reverse transcriptase real-time PCR..     ///    Three cases were excluded due to failure of both amplification assays SYT-SSX and control ?-2-microglobulin. '), ('5400', 'RARA_PML', 't(15;17) / ', 'RARA', 'PML', '14767917', '50', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'PML-RAR alpha fusion transcript (S type) was detected by RT-PCR, while RAR alpha-PML fusion transcript was not detected.     ///    PML-RAR alpha and RAR alpha-PML fusion transcripts were detected by reverse transcription-polymerase chain reaction (RT-PCR). '), ('5401', 'MSH2_EPCAM', '', 'MSH2', 'EPCAM', '23801599', '50', 'colorectal cancer;Lynch syndrome', '', '', '', '', '', '', '', 'Seq', 'Both deletions resulted from Alu mediated homologous recombination causing aberrant EPCAM-MSH2 fusion transcripts.     ///    \"Analysis of somatic genomic rearrangements showed a 4 Mb deletion including the EPCAM, MSH2 and MSH6 genes in one tumor and copy neutral loss of heterozygosity in the EPCAM-MSH2 region in the other tumor. \"'), ('5402', 'PPARG_PAX8', 't(2;3)(q13;p25) / ', 'PPARG', 'PAX8', '22179975', '50', 'thyroid carcinoma;papillary carcinoma;follicular adenoma\r\r', 'PCR;RT-PCR', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Detection of PAX8-PPARG fusion transcripts in archival thyroid carcinoma samples by conventional RT-PCR..     ///    The RT-PCR approach described herein allows to detect all known variants of PAX8-PPARG fusion transcripts and is applicable to FFPE tissues.     ///    The aim of the present study was to develop a method for the detection of chimeric PAX8-PPARG transcripts in formalin-fixed paraffin-embedded (FFPE) thyroid tumor samples by conventional RT-PCR. '), ('5403', 'OTT_MAL', 't(1;22)(p13;q13) / ', 'OTT', 'MAL', '24743787', '50', 'acute myeloid leukemia', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'We present here the case of a 4-month-old female AMKL patient who was diagnosed by presence of the RBM15-MKL1 (OTT-MAL) fusion transcript by RT-PCR. '), ('5404', 'NUP98_HOXA9', 't(7;11)(p15;p15) / ', 'NUP98', 'HOXA9', '12138901', '50', 'acute myeloid leukemia;chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'The NUP98/HOXA9 fusion transcript was detected by reverse transcription-polymerase chain reaction (RT-PCR) at exon A but not exon B of NUP98.. '), ('5405', 'BCL2_IGH', 't(14;18)  / ', 'BCL2', 'IGH', '13130315', '50', 'non Hodgkin lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'To determine if this system eliminates B cells and lymphoma cells from PBSC, immunocytochemistry and PCR of the bcl-2/IgH rearrangement were performed, and correlated with patient outcome after ASCT. '), ('5406', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '8781439', '50', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Also, because ETO would not be exclusively expressed as part of chimeric AML1/ETO in leukemic patients, its presence cannot be used to monitor t(8;21) AML residual disease.. '), ('5407', 'RUNX1_ETO', 't(8;21) / t(8;21)(q22;q22) / t(8;21)  / ', 'RUNX1', 'ETO', '22223820', '50', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In the present study, to evaluate whether LOS cooperates with t(8;21) in leukemogenesis, we first used a retroviral transduction/transplantation model to express RUNX1-ETO in hematopoietic cells from XO mice.     ///    \"To determine whether GM-CSF signaling affects RUNX1-ETO leukemogenesis, hematopoietic stem/progenitor cells that lack GM-CSF signaling were used to express RUNX1-ETO and transplanted into lethally irradiated mice, and a high penetrance of AML was observed in recipients. \"    ///    These results suggest a possible tumor-suppressor role of GM-CSF in RUNX1-ETO leukemia.     ///    The RUNX1-ETO fusion protein that is expressed by this translocation is poorly leukemogenic and requires additional mutations for transformation. '), ('5408', 'BCR_ABL1', '', 'BCR', 'ABL1', '26252834', '50', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Molecular characterization and follow-up of five CML patients with new BCR-ABL1 fusion transcripts..     ///     We report five chronic myeloid leukaemia (CML) patients in whom we identified and characterized undescribed BCR-ABL1 fusion transcripts. '), ('5409', 'FAM167A_BLK', '6p21.3 / ', 'FAM167A', 'BLK', '22446962', '50', 'Kawasaki disease', '', 'Kinase', '', '', '', '', '', '', 'We observed significant associations in the FAM167A-BLK region at 8p22-23 (rs2254546, P = 8.2 ?? 10(-21)), in the human leukocyte antigen (HLA) region at 6p21.3 (rs2857151, P = 4.6 ?? 10(-11)) and in the CD40 region at 20q13 (rs4813003, P = 4.8 ?? 10(-8)). '), ('5410', 'SYT_SSX', '', 'SYT', 'SSX', '17845763', '50', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'SYT-SSX fusion gene detection is not needed when the conventional approaches are diagnostic.     ///    \"SYT-SSX fusion gene was detected in 140 (78.2%) cases overall, including 94.7% (54/57) definite synovial sarcomas, 86.0% (37/43) probable synovial sarcomas and 62.0% (49/79) possible synovial sarcomas. \"    ///     To assess the diagnostic values of immunohistochemistry and SYT-SSX fusion gene detection for synovial sarcoma.     ///    [Roles of immunohistochemistry and detection of SYT-SSX fusion gene in diagnosis of synovial sarcoma]..     ///    RT-PCR Detection of the SYT-SSX fusion gene was performed using paraffin embedded tissue samples.     ///    EMA positivity has a similar diagnostic value to that of SYT-SSX by RT-PCR for tumors in the probable synovial sarcoma category.     ///    \"EMA was positively correlated with the presence of SYT-SSX (r(s) = 0.431, P = 0.001, r(s) = 0.463, P = 0.002, respectively). \"    ///    \"However, detection of SYT-SSX is very important for diagnosis of the tumors in the category of possible synovial sarcoma.. \"'), ('5411', 'SYT_SSX1', 'p11.2;q11.2 / ', 'SYT', 'SSX1', '27126659', '50', 'synovial sarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', 'RNA was purified from the tissue block sections and then subjected to One-step reverse transcriptase real-time PCR using sequence specific hydrolysis probes for simultaneous detection of either SYT-SSX1 or SYT-SSX2 fusion transcript. '), ('5412', 'YWHAE_NUTM2B', 't(10;17)(q22;p13) / ', 'YWHAE', 'NUTM2B', '26542179', '50', 'clear cell sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', '', 'The current study did not identify an explicit clinical phenotype of CCSK cases harboring the YWHAE-NUTM2B/E fusion transcript..     ///    \"Snap-frozen tissues, formalin-fixed paraffin-embedded tissues or RNA previously extracted from CCSK samples throughout European, North-American and Japanese study groups were screened by RT-PCR for the YWHAE-NUTM2B/E transcript. \"    ///    RNA from 57 of these additionally collected cases was of sufficient quality to be successfully screened for the YWHAE-NUTM2B/E transcript.     ///    The clinical phenotype of YWHAE-NUTM2B/E positive pediatric clear cell sarcoma of the kidney.. '), ('5413', 'EWS_ATF1', 't(12;22)(q13;q12) / ', 'EWS', 'ATF1', '11826187', '50', 'clear cell sarcoma;melanoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', 'The presence of an EWS-ATF1 fusion transcript was identified by RT-PCR in 11 of 12 cases (91%), all of which showed the same fusion transcript structure, namely the previously described in-frame fusion of EWS exon 8 to ATF1 codon 65. '), ('5414', 'TEL_AML1', '', 'TEL', 'AML1', '9372085', '49', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', '', '', '', '', '', '', '', '', 'The genes p16 (or MTS1) and TEL/AML1 are now respectively recognized as the most common tumor suppressor and fusion genes in childhood acute lymphoblastic leukemia. '), ('5415', 'KIAA1549_BRAF', '', 'KIAA1549', 'BRAF', '20068183', '49', 'astrocytoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'BRAF gene rearrangements that were indicated in three tumors prompted the discovery of KIAA1549-BRAF fusion transcripts expressed in 10 of 10 grade 1 astrocytomas and in none of the grade 2 to 4 tumors. '), ('5416', 'VTI1A_TCF7L2', '', 'VTI1A', 'TCF7L2', '24608966', '49', 'colorectal cancer\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', 'KB', '', 'VTI1A-TCF7L2 was reported as a recurrent fusion gene in colorectal cancer (CRC), found to be expressed in three out of 97 primary cancers, and one cell line, NCI-H508, where a genomic deletion joins the two genes [1].    ///    \" VTI1A-TCF7L2 was reported as a recurrent fusion gene in colorectal cancer (CRC), found to be expressed in three out of 97 primary cancers, and one cell line, NCI-H508, where a genomic deletion joins the two genes [1]. \"    ///    \"In conclusion, we have identified novel variants of VTI1A-TCF7L2 fusion transcripts, including a novel fusion partner gene, RP11-57H14.3, and demonstrated detectable levels in a large fraction of CRC samples, as well as in normal colonic mucosa and other tissue types. \"    ///    \"By triplicate nested RT-PCR, we tested both the novel fusion transcript and VTI1A-TCF7L2 for expression in a series of 106 CRC tissues, 21 CRC cell lines, 14 normal colonic mucosa, and 20 normal tissues from miscellaneous anatomical sites. \"    ///    \"Altogether, 42% and 45% of the CRC samples expressed VTI1A-TCF7L2 and TCF7L2-RP11-57H14.3 fusion transcripts, respectively. \"    ///    \"Seven different splice variants were detected for the VTI1A-TCF7L2 fusion, of which three are novel. \"'), ('5417', 'EWS_CHN', '', 'EWS', 'CHN', '11679947', '49', 'chondrosarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In a reverse-transcription polymerase chain reaction (RT-PCR) assay using paraffin-embedded specimens, EWS-CHN or TAF2N-CHN fusion gene transcripts characteristic of EMCS could be detected in 15 (83%) of the 18 cases: EWS-CHN type 1 in 11 cases, EWS-CHN type 2 in 1, and TAF2N-CHN in 3.     ///    \"Thus, RT-PCR detection of EWS-CHN or TAF2N-CHN fusion gene using archival paraffin-embedded tissue is a feasible and useful ancillary technique for the diagnosis of EMCS.. \"'), ('5418', 'EML4_ALK', '', 'EML4', 'ALK', '22912387', '49', 'lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'By making use of the Ba/F3 cell line model, we analyzed the cytotoxic efficacy of ALK kinase inhibitors as a function of different EML4-ALK fusion variants v1, v2, v3a, and v3b as well as of three artificially designed EML4-ALK deletion constructs and the ALK fusion genes KIF5b-ALK and NPM1-ALK.'), ('5419', 'TAF2N_CHN', '', 'TAF2N', 'CHN', '11679947', '49', 'chondrosarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In a reverse-transcription polymerase chain reaction (RT-PCR) assay using paraffin-embedded specimens, EWS-CHN or TAF2N-CHN fusion gene transcripts characteristic of EMCS could be detected in 15 (83%) of the 18 cases: EWS-CHN type 1 in 11 cases, EWS-CHN type 2 in 1, and TAF2N-CHN in 3.     ///    \"Thus, RT-PCR detection of EWS-CHN or TAF2N-CHN fusion gene using archival paraffin-embedded tissue is a feasible and useful ancillary technique for the diagnosis of EMCS.. \"'), ('5420', 'EML4_ALK', '', 'EML4', 'ALK', '22568572', '49', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'EML4 (echinoderm microtubule-associated protein-like 4)-ALK (anaplastic lymphoma kinase) was recently identified as a transforming fusion gene in non-small cell lung cancer (NSCLC).     ///    \"A small-molecule tyrosine kinase inhibitor of ALK, crizotinib, shows pronounced clinical activity in the treatment of patients with NSCLC positive for EML4-ALK, and it has rapidly entered into daily clinical practice.\"    ///    \"A small-molecule tyrosine kinase inhibitor of ALK, crizotinib, shows pronounced clinical activity in the treatment of patients with NSCLC positive for EML4-ALK, and it has rapidly entered into daily clinical practice. \"'), ('5421', 'SYT_SSX1', '', 'SYT', 'SSX1', '15879502', '49', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'A reverse transcription-polymerase chain reaction (RT-PCR) amplified a single 118 bp fragment characteristic of the SYT-SSX1 fusion gene transcripts.     ///    Primary pulmonary synovial sarcoma confirmed by molecular detection of SYT-SSX1 fusion gene transcripts: a case report and review of the literature..     ///    This is in contrast to the association between the SYT-SSX1 fusion protein expression and poorer prognosis in soft tissue synovial sarcomas.. '), ('5422', 'ROS1_EZR', '', 'ROS1', 'EZR', '23418494', '49', 'lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The present study shows that EZR-ROS1 plays an essential role in the oncogenesis of NSCLC harboring the fusion gene.     ///    \"These data suggest that the EZR-ROS1 is a pivotal oncogene in human NSCLC, and that this animal model could be valuable for exploring therapeutic agents against ROS1-rearranged lung cancer.. \"    ///    \"Most importantly, established transgenic mouse lines specifically expressing EZR-ROS1 in lung alveolar epithelial cells developed multiple adenocarcinoma nodules in both lungs at an early age. \"    ///    EZR-ROS1 was identified in four female patients of lung adenocarcinoma.     ///    \"These data suggest that the EZR-ROS1 is a pivotal oncogene in human NSCLC, and that this animal model could be valuable for exploring therapeutic agents against ROS1-rearranged lung cancer..\"'), ('5423', 'SS18_SSX1', '', 'SS18', 'SSX1', '23845006', '49', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'The diagnosis was confirmed by the presence of SS18 gene rearrangement and identification of SS18-SSX1 fusion transcript.    ///    The diagnosis was confirmed by the presence of SS18 gene rearrangement and identification of SS18-SSX1 fusion transcript. '), ('5424', 'PRKACA_DNAJB1', '', 'PRKACA', 'DNAJB1', '25698061', '49', 'cholangiocarcinoma;hepatoblastoma', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', '', '', 'RT-PCR was successful in 92% of tested fibrolamellar carcinoma cases (24/26) and the DNAJB1-PRKACA fusion transcript was found in all fibrolamellar carcinomas but not in other tumor types.     ///    \"In conclusion, detection of DNAJB1-PRKACA is a very sensitive and specific finding in support of the diagnosis of fibrolamellar carcinoma. \"    ///    DNAJB1-PRKACA is specific for fibrolamellar carcinoma..     ///    \"In addition, the stromal cells embedded in the characteristic intratumoral fibrosis of fibrolamellar carcinomas and the background liver tissues were negative for the DNAJB1-PRKACA fusion by all tested methods. \"    ///    A recurrent DNAJB1-PRKACA fusion has recently been reported in fibrolamellar carcinomas. '), ('5425', 'SYT_SSX1', '', 'SYT', 'SSX1', '23910174', '49', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Reverse transcriptase polymerase chain reaction (RT-PCR), using the RNA from frozen neoplastic tissue of the resected specimen, detected a fusion gene called SYT-SSX1, specific for SS. '), ('5426', 'P26_BCL2', 't(14;18)  / ', 'P26', 'BCL2', '8916960', '49', 'non Hodgkin Lymphoma', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'PCR single-strand conformation polymorphism (SSCP) and sequence analyses were performed for identification of structural alterations of the bcl-2 gene in the ORF region corresponding to the 239-amino acid p26-bcl-2 alpha protein.     ///    They also show that transformation of FL cells may be associated with somatic point mutations of the bcl-2 proto-oncogene ORF sequence resulting in alteration of the p26-bcl-2 alpha gene product.. '), ('5427', 'NUP214_ABL1', '', 'NUP214', 'ABL1', '21435002', '49', 'acute lymphoblastic leukemia;chronic myeloid leukemia;myeloid leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The NUP214-ABL1 gene is the second most prevalent fusion gene involving ABL1 in malignant hemopathies, with a frequency of 5% in T-cell ALL.     ///    \"Fusion genes that have a break in intron 1 or 2 (BCR-ABL1, ETV6-ABL1, ZMIZ1-ABL1, EML1-ABL1, and NUP214-ABL1) have transforming activity, although NUP214-ABL1 requires amplification to be efficient. \"'), ('5428', 'PDGFRB_GIT2', '', 'PDGFRB', 'GIT2', '22169300', '49', 'myeloproliferative disorder\r\r', 'PCR', 'Kinase', '', '', 'Receptor', '', '', '', 'GIT2-PDGFRB, TP53BP1-PDGFRB and WDP48-PDGFRB fusion gene in 1 case, respectively. '), ('5429', 'SYT_SSX', '', 'SYT', 'SSX', '18774495', '49', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Reverse transcription-polymerase chain reaction (RT-PCR) using RNA extracted from formalin-fixed paraffin-embedded tissues was carried out in 4 cases and SYT-SSX fusion gene transcript, which is the diagnostic hallmark of SS, was detected. '), ('5430', 'NTD_EWS', 't(21;22)(q22;q12) / ', 'NTD', 'EWS', '8707406', '49', 'ewing tumor\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The resulting fusion gene encoded a chimeric protein in which a truncated NTD-EWS was linked, in frame, to the ETS DNA-binding domain of ERG.     ///    \"It also suggests that the amino-terminal portion of the NTD-EWS, but not its carboxy terminal part, might be fundamental for the oncogenicity of the chimeric proteins.. \"'), ('5431', 'SYT_SSX', '', 'SYT', 'SSX', '11450996', '49', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Primary synovial sarcoma of the lung: a case report confirmed by molecular detection of SYT-SSX fusion gene transcripts.. '), ('5432', 'SYT_SSX', '', 'SYT', 'SSX', '15879502', '49', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'As these features suggested a monophasic synovial sarcoma, we looked for the presence of SYT-SSX fusion gene transcripts using RNA samples from the paraffin-embedded tissue.     ///    \"In our review of primary pulmonary synovial sarcomas confirmed by molecular detection of SYT-SSX fusion gene transcripts, the SYT-SSX2 fusion protein expression correlates with poorer prognosis. \"'), ('5433', 'FUS_ERG', '', 'FUS', 'ERG', '26690869', '48', 'ewing sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Ewing sarcoma with ERG gene rearrangements: A molecular study focusing on the prevalence of FUS-ERG and common pitfalls in detecting EWSR1-ERG fusions by FISH..     ///    \"In fact, ERG gene rearrangements represent the second most common molecular alteration, with EWSR1-ERG being identified in 5-10% of cases, while only a handful of reports document a FUS-ERG fusion.\"    ///    \"In fact, ERG gene rearrangements represent the second most common molecular alteration, with EWSR1-ERG being identified in 5-10% of cases, while only a handful of reports document a FUS-ERG fusion. \"    ///    \"In this study, we focus on ES with ERG gene abnormalities, specifically to investigate the prevalence and clinicopathologic features of FUS-ERG fusions in a large cohort of small blue round cell tumors (SBRCTs) and compare to the eight reported FUS-positive ES. \"'), ('5434', 'MLLT1_MLL', 't(2;19;11)  / p13.3;q23 / t(2;19;11) / 19p13.3 / ', 'MLLT1', 'MLL', '20113834', '48', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'The MLL-MLLT1 fusion products from the derivative chromosome 11 were detected by reverse transcriptase-polymerase chain reaction (RT-PCR), and two splicing variant forms were confirmed by cloning and sequencing. '), ('5435', 'TEL_MN1', 't(12;22)(p13;q11) / ', 'TEL', 'MN1', '17476096', '48', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Reverse transcriptase polymerase chain reaction revealed the TEL-MN1 fusion transcript. '), ('5436', 'MLL_ABI1', 't(10;11) / p11.2;q23 / t(10;11)  / t(10;11)(p12;q23) / t(10;11)(p13;q14) / inv(11) / 10p11.2 / ', 'MLL', 'ABI1', '9694699', '48', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', 'Tumor_suppressor', '', '', 'KB', '', 'Although e3B1 was considered to be a full-length ABI-1, the MLL-ABI-1 fusion transcript in this patient was formed by an alternatively spliced ABI-1.     ///    \"In-frame MLL-ABI-1 fusion transcripts combine the MLL AT-hook motifs and DNA methyltransferase homology region with the homeodomain homologous region, polyproline stretches, and SH3 domain of alternatively spliced transcript of ABI-1. \"'), ('5437', 'SYT_SSX1', 'p11;q11 / ', 'SYT', 'SSX1', '9990487', '48', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Characterization of a variant SYT-SSX1 synovial sarcoma fusion transcript..     ///    Direct sequencing of the product disclosed a novel SYT-SSX1 fusion transcript that contained an additional 51 bp of normal SSX1 sequence but lost 135 bp of the SYT sequence. '), ('5438', 'LHFP_HMGIC', 't(12;13) / ', 'LHFP', 'HMGIC', '10329012', '48', '', '', '', '', '', '', '', '', '', 'In the lipoma studied, the expressed HMGIC/LHFP fusion transcript encodes the three DNA binding domains of HMGIC followed by 69 amino acids encoded by frame-shifted LHFP sequences. '), ('5439', 'NPM_ALK', 't(2;5)(p23;q35) / ', 'NPM', 'ALK', '12816858', '48', 'non Hodgkin lymphoma;B cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'All of these reported tumors lacked the NPM-ALK fusion transcript.     ///    ALK-positive plasmablastic B-cell lymphoma with expression of the NPM-ALK fusion transcript: report of 2 cases..     ///    Both were positive for NPM-ALK by reverse transcriptase-polymerase chain reaction.     ///    Here we describe 2 well-characterized cases of ALK-positive B-cell lymphoma expressing the NPM-ALK fusion. '), ('5440', 'MAML2_CRTC1', 't(11;19)  / ', 'MAML2', 'CRTC1', '21074686', '48', 'mucoepidermoid carcinoma\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'CRTC1/MAML2 fusion transcript in central mucoepidermoid carcinoma of mandible--diagnostic and histogenetic implications.. '), ('5441', 'TFE3_RCC17', 'p11.2;q25.3 / p11;q25 / ', 'TFE3', 'RCC17', '11358836', '48', 'papillary renal cell carcinoma', '', '', '', '', '', '', '', '', 'The reciprocal fusion transcript TFE3/RCC17 is also expressed. '), ('5442', 'PMX1_NUP98', 't(1;11)(q23;p15) / t(7;11)(p15;p15) / t(2;11)(q35;p15) / inv(11)(p15;q22) / ', 'PMX1', 'NUP98', '10397741', '48', '', '', '', '', '', '', '', '', '', 'however, there was no reciprocal PMX1-NUP98 fusion transcript.     ///    \"Like the NUP98-HOXA9 fusion, NUP98 and PMX1 were fused in frame and the N-terminal GLFG-rich docking region of the NUP98 and the PMX1 homeodomain were conserved in the NUP98-PMX1 fusion, suggesting that PMX1 homeodomain expression is upregulated and that the fusion protein may act as an oncogenic transcription factor. \"    ///    The chimeric NUP98-PMX1 transcript was detected. '), ('5443', 'RAD51L1_HMGIC', 't(12;14)(q15;q23-24) / ', 'RAD51L1', 'HMGIC', '11135437', '48', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'This is the first molecular analysis in which primary tumors have been examined for the RAD51L1/HMGIC transcripts.     ///    Evidence for RAD51L1/HMGIC fusion in the pathogenesis of uterine leiomyoma..     ///    The detection of the RAD51L1/HMGIC fusion in primary tumors adds to the accumulating evidence implicating this fusion in a proportion of uterine leiomyoma patients.. '), ('5444', 'JAK2_BCR', 't(9;18;22) / p11.3;q11.2 / ', 'JAK2', 'BCR', '22018274', '48', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'This is the first report of the simultaneous occurrence of two BCR/JAK2 fusion transcripts in the same sample and of the longer transcript isoform (BCR exon 1 fused to JAK2 exon 15).     ///    \"Notably, both BCR/JAK2 encoded fusion proteins are predicted to juxtapose the coiled-coil dimerization domain of BCR to the catalytically inactive pseudokinase domain (JH2), entirely or partially deprived of the inhibitory region 1 (IR1). \"'), ('5445', 'EWSR1_ERG', '', 'EWSR1', 'ERG', '26690869', '48', 'ewing sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', 'Seq', 'Ewing sarcoma with ERG gene rearrangements: A molecular study focusing on the prevalence of FUS-ERG and common pitfalls in detecting EWSR1-ERG fusions by FISH..     ///    \"In one case, RNA sequencing identified an EWSR1-ERG transcript despite the negative EWSR1 rearrangements by FISH. \"    ///    \"In fact, ERG gene rearrangements represent the second most common molecular alteration, with EWSR1-ERG being identified in 5-10% of cases, while only a handful of reports document a FUS-ERG fusion. \"'), ('5446', 'CCND1_PTH', '', 'CCND1', 'PTH', '20641034', '48', 'parathyroid adenoma', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Thus, PTH-cyclin D1 gene rearrangement breakpoints in parathyroid tumors can be located far from those previously recognized. '), ('5447', 'TEL_AML1', '', 'TEL', 'AML1', '14504097', '48', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', '', '', '', '', '', '', '', '', 'Remarkably, FLT3-D835/I836 mutations were found in 8 (18.2%) of 44 infants with ALL with MLL rearrangements and in 4 (21.5%) of 19 patients with hyperdiploid ALL, but they were not found in any patients older than 1 year who had TEL-AML1 (n = 11), E2APBX1 (n = 4), or BCR-ABL (n = 6) fusion genes. '), ('5448', 'TAL1_STIL', '', 'TAL1', 'STIL', '19608273', '48', 'T ALL\r\r', 'PCR', '', '', '', '', 'Transcription_Factor', '', '', 'While deletion of STIL correlated with expression of the STIL-TAL1 fusion transcript, no TRMT-LYL1 fusion transcripts were detected in parallel with genomic rearrangements thereof. '), ('5449', 'NPM_ALK', 't(2;5)(p23;q35) / ', 'NPM', 'ALK', '8866227', '48', 'anaplastic large cell lymphoma', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Detection of the NPM-ALK genomic rearrangement of Ki-1 lymphoma and isolation of the involved NPM and ALK introns..     ///    \"Thus, we have shown that the introns involved by the NPM-ALK rearrangement seen in some Ki-1 lymphomas are relatively short, making the genomic rearrangement amenable to reliable detection by long-range DNA PCR. \"    ///    \"To examine the feasibility of long-range DNA PCR with the same exonic NPM and ALK primers for the detection of the genomic NPM-ALK rearrangement, we examined 20 cases of Ki-1 ALCL previously characterized by NPM-ALK RT-PCR. \"    ///    Ten cases were positive for the NPM-ALK fusion RNA and 10 were negative.     ///    \"We first confirmed that both the NPM and ALK normal introns are relatively short, approximately 1 and 2 kb, respectively, suggesting that the largest possible size for the chimeric NPM-ALK intron would be about 3 kb. \"'), ('5450', 'FRK_ETV6', 't(6;12)(q21;p13) / ', 'FRK', 'ETV6', '15611931', '48', 'leukemia\r\r', '', 'Kinase', '', '', '', '', '', '', 'Both reciprocal fusion transcripts, ETV6/FRK and FRK/ETV6, were expressed.     ///    \"This report provides the first evidence that a SRC-like kinase gene, FRK fused with ETV6, could directly contribute to leukemogenesis by producing an oncoprotein, ETV6/FRK, with dual functions: constitutive activation of the ETV6/FRK tyrosine kinase and dominant-negative modulation of ETV6-mediated transcriptional repression.. \"    ///    \"Moreover, ETV6/FRK inhibited ETV6-mediated transcriptional repression in a dominant-negative manner. \"    ///    The ETV6/FRK protein was shown to be constitutively autophosphorylated on its tyrosine residues.     ///    \"ETV6/FRK could transform both Ba/F3 cells and NIH3T3 cells, which depended on its kinase activity. \"    ///    \"ETV6/FRK phosphorylated histones H2B and H4 in vitro to a greater extent than did FRK, suggesting it had elevated kinase activity. \"    ///    \"In ETV6/FRK, exon 4 of ETV6 was fused in-frame to exon 3 of FRK, producing a chimeric protein consisting of the entire oligomerization domain of ETV6 and the kinase domain of FRK. \"'), ('5451', 'SYT_SSX', 'p11.2;q11.2 / ', 'SYT', 'SSX', '15350633', '48', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Our findings indicate possible geographical differences in the frequency of two SYT-SSX fusion transcripts in patients with synovial sarcoma..     ///    \"Whereas the frequency of different SYT-SSX fusions in the Dutch group was similar to that reported in the literature, we found an unexpectedly high number of tumors with SYT-SSX2 fusion in the Slovenian group. \"'), ('5452', 'ETO_AML1', 't(8;21) / t(8;21)  / ', 'ETO', 'AML1', '10905056', '48', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Reverse-transcriptase polymerase chain reaction detected an AML1/ETO fusion transcript (152 bp) in both cases. '), ('5453', 'MYC_IG', 't(8;22)  / ', 'MYC', 'IG', '3035497', '48', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Using 3 restriction enzymes cutting outside the c-myc domain (EcoRI, BamHI, HindIII), we found no evidence for a c-myc/Ig lambda rearrangement in 14 BL cell lines. '), ('5454', 'TPR_ALK', 't(1;2) / ', 'TPR', 'ALK', '24736082', '48', 'non small cell lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'This case is the first report of TPR-ALK fusion transcript in clinical tumor samples and could provide a novel diagnostic and therapeutic candidate target for patients with cancer, including non-small-cell lung carcinoma..     ///    The TPR-ALK fusion encodes a predicted protein of 1192 amino acids with a coiled-coil domain encoded by the 5\'-2 of the TPR and juxtamembrane and kinase domains encoded by the 3\'-end of the ALK. '), ('5455', 'NPM_ALK', 't(2;5)(p23;q35) / ', 'NPM', 'ALK', '8721682', '48', 'anaplastic large cell lymphoma;lymphoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Molecular variant of the NPM-ALK rearrangement of Ki-1 lymphoma involving a cryptic ALK splice site..     ///    \"In the course of a survey of 15 cases of Ki-1 ALCL, we identified a single case with a slightly smaller NPM-ALK RT-PCR product, among 12 cases positive for this fusion RNA. \"    ///    \"Sequencing of this novel NPM-ALK RT-PCR product showed an in-frame junction of NPM to ALK, 30 bases distal to the usual ALK junction site, but at the usual NPM Junction site. \"'), ('5456', 'SYT_SSX', 'p11.2;q11.2 / ', 'SYT', 'SSX', '19837269', '48', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Novel SYT-SSX fusion transcript variants in synovial sarcoma.. '), ('5457', 'FLI_EWS', 't(21;22) / t(11;22)(q24;q12) / t(21;22)(q22;q12) / ', 'FLI', 'EWS', '8162068', '48', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Identical EWS nucleotide sequences found in the EWS/FLI-1 fusion transcripts are fused to portions of ERG encoding an ETS DNA-binding domain resulting in expression of a hybrid EWS/ERG protein. '), ('5458', 'RET_KIF5B', '', 'RET', 'KIF5B', '25625428', '48', 'non small cell lung cancer', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Several related clinical trials for non-small-cell lung cancer (NSCLC) with KIF5B-RET rearrangements using existing RET inhibitors, such as lenvatinib, vandetanib, sunitinib, ponatinib, cabozantinib, and AUY922, have been swiftly initiated by the discovery of the KIF5B-RET fusion gene.     ///    Progress in Discovery of KIF5B-RET Kinase Inhibitors for the Treatment of Non-Small-Cell Lung Cancer..     ///    Anti-RET activity and the status of clinical development of these known RET tyrosine kinase inhibitors (TKIs) for KIF5B-RET fusion-positive NSCLC are discussed.     ///    \" A new chimeric fusion transcript of KIF5B (the kinesin family 5B gene) and the RET (Rearranged during Transcription) oncogene, KIF5B-RET, was found in 1-2% of lung adenocarcinomas (LADCs) in late 2011. \"');
INSERT INTO `ChimerPub_dump` VALUES ('5459', 'TRMT_LYL1', '', 'TRMT', 'LYL1', '19608273', '48', 'T ALL\r\r', 'PCR', '', '', '', '', '', '', '', 'While deletion of STIL correlated with expression of the STIL-TAL1 fusion transcript, no TRMT-LYL1 fusion transcripts were detected in parallel with genomic rearrangements thereof. '), ('5460', 'ETO_AML1', 't(8;21)  / t(8;21) / ', 'ETO', 'AML1', '9823954', '48', '', '', '', '', '', '', '', '', '', 'Among the colonies consisting of more than 150 cells, only 3/45 evaluated were positive for the AML1/ETO fusion transcript.     ///    \"On the other hand, 8/19 colonies with less than 150 cells were AML1/ETO positive. \"'), ('5461', 'RARA_PML', 't(15;17)  / t(15;17)(q22;q21) / ', 'RARA', 'PML', '19061780', '48', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'In addition, variant fusion transcripts of PML/RARA were detected in the marrow specimen. '), ('5462', 'SYT_SSX', 'p11;q11 / ', 'SYT', 'SSX', '9990487', '48', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Examination of a primary monophasic synovial sarcoma for an SYT-SSX fusion transcript by reverse-transcription polymerase chain reaction revealed a smaller-than-expected product. '), ('5463', 'TCF3_PBX1', '', 'TCF3', 'PBX1', '25692130', '47', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'The aims of this multicenter study were to determine the prevalence of the four most common gene rearrangements [ETV6-RUNX1, TCF3-PBX1, BCR-ABL1, and MLL rearrangements] and to explore their relationship with mortality rates during the first year of treatment in ALL children from Mexico City.     ///    \"ETV6-RUNX1 was detected in 21 (7.4%) patients, TCF3-PBX1 in 20 (7.1%) patients, BCR-ABL1 in 5 (1.8%) patients, and MLL rearrangements in 4 (1.4%) patients. \"    ///    \"ETV6-RUNX1 was detected in 21 (7.4%) patients, TCF3-PBX1 in 20 (7.1%) patients, BCR-ABL1 in 5 (1.8%) patients, and MLL rearrangements in 4 (1.4%) patients.\"'), ('5464', 'SLC45A3_ERG', '', 'SLC45A3', 'ERG', '22821757', '47', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Loss of SLC45A3 protein (prostein) expression in prostate cancer is associated with SLC45A3-ERG gene rearrangement and an unfavorable clinical course..     ///    \"SLC45A3 showed a weaker expression in cancer as compared to benign tissue, which was pronounced in cases with SLC45A3-ERG fusion.\"    ///    This study provides first evidence that the expression of SLC45A3 protein is down regulated through SLC45A3-ERG fusion in prostate cancer.     ///    \"SLC45A3 showed a weaker expression in cancer as compared to benign tissue, which was pronounced in cases with SLC45A3-ERG fusion. \"'), ('5465', 'EWS_CHOP', 't(12;16)  / t(12;16) / ', 'EWS', 'CHOP', '11751490', '47', 'liposarcoma', 'PCR', '', '', '', '', '', '', '', 'Two other cases (2%) showed an EWS-CHOP fusion transcript. '), ('5466', 'EAP_AML1', '', 'EAP', 'AML1', '16875579', '47', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'q22) resulted in the AML1-MDS1-Evi1, AML1-MDS1, AML1-EAP fusion transcripts, and Evi1 gene was also activated by the translocation.     ///    \"The mRNA expression level of AML1-MDS1-Evi1 fusion gene was 1.58 and 1.54 times higher than that of AML1-MDS1 and AML1-EAP, respectively. \"    ///    \"AML1-Evi1, AML1-MDS1-Evi1, AML1-EAP fusion transcripts and Evi1 gene were detected in mRNA level, but no AML1-Evi1 fusion transcript. \"'), ('5467', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23321466', '47', 'prostate cancer\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2-ERG rearrangement was investigated by FISH (n=44), ERG protein by IHC (n=84), and CXCR4 by quantitative RT-PCR (n=44).    ///    \"TMPRSS2-ERG rearrangement was investigated by FISH (n=44), ERG protein by IHC (n=84), and CXCR4 by quantitative RT-PCR (n=44). \"    ///    \"In conclusion, our results reveal for the first time that CXCR4 overexpression is associated with high Gleason score prostate tumors, but that it is independent of the TMPRSS2-ERG rearrangement.. \"    ///    \"TMPRSS2-ERG rearrangement and ERG protein expression were present in almost 50% of the cases, without statistical differences between the different Gleason score groups. \"    ///    Different studies have suggested an association between CXCR4 and ERG overexpression resulting from the TMPRSS2-ERG rearrangement.     ///    CXCR4 mRNA overexpression in high grade prostate tumors: lack of association with TMPRSS2-ERG rearrangement.. '), ('5468', 'RARA_PML', '', 'RARA', 'PML', '7831584', '47', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia;hematologic malignancy\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The presence of the PML/retinoic acid receptor-alpha (PML/RAR-alpha) fusion gene, produced as a result of the unique chromosomal translocation in APL, is a marker of sensitivity to ATRA. '), ('5469', 'BCR_ABL1', '', 'BCR', 'ABL1', '25692130', '47', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The earliest deaths occurred at months 1, 2, and 3 after diagnosis in patients with MLL, ETV6-RUNX1, and BCR-ABL1 gene rearrangements, respectively.     ///    \"The aims of this multicenter study were to determine the prevalence of the four most common gene rearrangements [ETV6-RUNX1, TCF3-PBX1, BCR-ABL1, and MLL rearrangements] and to explore their relationship with mortality rates during the first year of treatment in ALL children from Mexico City. \"    ///    \"ETV6-RUNX1 was detected in 21 (7.4%) patients, TCF3-PBX1 in 20 (7.1%) patients, BCR-ABL1 in 5 (1.8%) patients, and MLL rearrangements in 4 (1.4%) patients. \"'), ('5470', 'SQSTM1_NTRK1', '', 'SQSTM1', 'NTRK1', '26565381', '47', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', '', '', '', '', '', 'Seq', 'Entrectinib demonstrated significant anti-tumor activity in a patient with NSCLC harboring an SQSTM1-NTRK1 gene rearrangement, indicating that entrectinib may be an effective therapy for tumors with NTRK gene rearrangements, including those with central nervous system metastases..     ///    A patient with stage IV lung adenocrcinoma with an SQSTM1-NTRK1 fusion transcript expression was treated with entrectinib. '), ('5471', 'MLL_CALM', 'inv(11)(q14q23) / ', 'MLL', 'CALM', '12461747', '47', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'We identified the MLL-CALM fusion transcript (but not the reciprocal CALM-MLL transcript) in leukemia cell RNA by RT-PCR.     ///    \"The predicted 1803 amino acid MLL-CALM fusion protein includes amino-terminal MLL domains involved in transcriptional repression, and carboxy-terminal CALM-derived clathrin-binding domains. \"'), ('5472', 'WWTR1_CAMTA1', '', 'WWTR1', 'CAMTA1', '25817592', '47', 'vascular neoplasm', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', 'Reverse transcription-polymerase chain reaction (RT-PCR) assays were optimized to detect WWTR1-CAMTA1 and YAP1-TFE3 fusion transcripts in FFPE tissue and transcription factor E3 (TFE3) protein accumulation was examined by immunohistochemistry (IHC).     ///    \"Fourteen of 18 informative cases were positive for WWTR1-CAMTA1 fusion transcripts, four of which showed higher-grade cytological features termed by some as \'malignant EHE\'. \"    ///    Subsets have been characterized previously by translocations resulting in either WWTR1-CAMTA1 or YAP1-TFE3 fusion.     ///    This study confirms the high incidence of WWTR1-CAMTA1 and YAP1-TFE3 rearrangements in EHE and indicates that the staining pattern for TFE3 IHC is critical for specificity..     ///    Molecular characterization of epithelioid haemangioendotheliomas identifies novel WWTR1-CAMTA1 fusion variants..     ///    three with patchy staining showed WWTR1-CAMTA1 fusion. '), ('5473', 'NPM_ALK', 't(2;5)(p23;q35) / ', 'NPM', 'ALK', '10514417', '47', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Morphology, immunohistochemistry, and molecular genetics which demonstrated the NPM-ALK fusion protein, resulting from the t(2;5)(p23;q35), confirmed the identity of the xenograft with the original tumor. '), ('5474', 'FLI_EWS', 't(11;22)  / t(11;22) (q24;q12) / ', 'FLI', 'EWS', '7522496', '47', 'esthesioneuroblastoma;histiocytoma;neuroectodermal tumor;rhabdomyosarcoma', '', '', '', '', '', '', '', '', 'EWS/FLI-1 rearrangement in small round cell sarcomas of bone and soft tissue detected by reverse transcriptase polymerase chain reaction amplification.. '), ('5475', 'TEL_AML1', 'del(7)  / del(11)(q23) / ', 'TEL', 'AML1', '16261608', '47', 'acute lymphoid leukemia;T cell leukemia', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Other than MLL rearrangements, various other molecular aberrations were detected including TEL/AML1+ve (n=9), E2A/PBX1+ve (n=4), PML/RARA+ve (n=4), and AML1/ETO+ve (n=2). '), ('5476', 'RARA_PML', '', 'RARA', 'PML', '18294238', '47', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Acute promyelocytic leukemia with i(17)(q10) on G-banding and PML/RARA rearrangement by RT-PCR without evidence of PML/RARA rearrangement on FISH.. '), ('5477', 'MLLT3_MLL', '', 'MLLT3', 'MLL', '25130479', '47', '', 'PCR;RT-PCR', '', 'Oncogene', '', '', '', '', 'Seq', 'RNAi knockdown of activation-induced cytidine deaminase (AICDA) suppressed the induction of MLL-MLLT3 fusion transcript formation observed with estradiol.     ///    Estradiol also stimulated the generation of MLL-MLLT3 fusion transcripts as seen by RT-PCR.     ///    Estradiol induces gene proximity and MLL-MLLT3 fusion in an activation-induced cytidine deaminase-mediated pathway.. '), ('5478', 'BCR_ABL1', '', 'BCR', 'ABL1', '16205638', '47', 'lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Pre-B lymphoblastic leukemia cells carrying a BCR-ABL1 gene rearrangement exhibit an undifferentiated phenotype.     ///    \"Comparing matched leukemia sample pairs from patients before and during therapy with the BCR-ABL1 kinase inhibitor STI571 (Imatinib), inhibition of BCR-ABL1 partially corrected aberrant expression of IK6 and lineage infidelity of the leukemia cells. \"    ///    \"As shown by inducible expression of BCR-ABL1 in human and murine B-cell precursor cell lines, BCR-ABL1 induces the expression of a dominant-negative IKAROS splice variant, termed IK6. \"    ///    \"Therefore, we propose that BCR-ABL1 induces aberrant splicing of IKAROS, which interferes with lineage identity and differentiation of pre-B lymphoblastic leukemia cells.. \"    ///    BCR-ABL1 induces aberrant splicing of IKAROS and lineage infidelity in pre-B lymphoblastic leukemia cells.. '), ('5479', 'RARA_PML', '', 'RARA', 'PML', '25419843', '47', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', ' Previously we reported that the expression of promyelocytic leukemia (PML)-retinoic acid receptor alpha (RAR?) fusion gene, which is caused by specific translocation (15;17) in acute promyelocytic leukemia, can enhance constitutive autophagic activity in leukemic and nonleukemic cells, and PML overexpression can sequestrate part of microtubule-associated protein light chain 3 (LC3) protein in PML nuclear bodies, suggesting that LC3 protein also distributes into nuclei although it is currently thought to function primarily in the cytoplasm, the site of autophagosomal formation. '), ('5480', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '24557455', '47', '', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'ETV6/RUNX1 rearrangement identified by RT-PCR without evidence on FISH.. '), ('5481', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '25692130', '47', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'The earliest deaths occurred at months 1, 2, and 3 after diagnosis in patients with MLL, ETV6-RUNX1, and BCR-ABL1 gene rearrangements, respectively.     ///    \"The aims of this multicenter study were to determine the prevalence of the four most common gene rearrangements [ETV6-RUNX1, TCF3-PBX1, BCR-ABL1, and MLL rearrangements] and to explore their relationship with mortality rates during the first year of treatment in ALL children from Mexico City. \"    ///    \"ETV6-RUNX1 was detected in 21 (7.4%) patients, TCF3-PBX1 in 20 (7.1%) patients, BCR-ABL1 in 5 (1.8%) patients, and MLL rearrangements in 4 (1.4%) patients. \"'), ('5482', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '26411452', '47', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'We integrated chromatin-immunoprecipitation-coupled sequencing and microarray expression profiling in TMPRSS2-ERG gene rearrangement positive DUCaP cells with the GWAS PCa risk SNPs catalog to identify disease susceptibility SNPs localized within functional androgen receptor-binding sites (ARBSs). '), ('5483', 'MDR1_P-gp', '', 'MDR1', 'P-gp', '15308010', '47', '', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'The mechanisms of resistance of K562/G01 cells to imatinib involved increased expression of BCR/ABL and mdr1/P-gp, amplification of BCR/ABL fusion gene, and increased activity of BCR/ABL.. '), ('5484', 'RET_PTC', '', 'RET', 'PTC', '25880213', '47', 'thyroid carcinoma;thyloid cancer\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', '', '', 'Specific nuclear rearrangements were investigated by RT-PCR (RET/PTC) or on isolated nuclei by interphase FISH (PAX8/PPAR?). '), ('5485', 'TEL_AML1', 't(12;21)  / ', 'TEL', 'AML1', '7761424', '46', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The TEL-AML1 fusion also indicates that translocations affecting the AML1 gene can be associated with lymphoid, as well as myeloid, malignancy.. '), ('5486', 'NPM1_ALK', 't(11;22)(q24;q12) / t(2;5)(p23;q35) / / ', 'NPM1', 'ALK', '23568838', '46', 'anaplastic large cell lymphoma;ewing sarcoma;sarcoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'We recovered both translocations with high efficiency, resulting in the expression of the EWSR1-FLI1 and NPM1-ALK fusions.    ///    \"We recovered both translocations with high efficiency, resulting in the expression of the EWSR1-FLI1 and NPM1-ALK fusions. \"'), ('5487', 'EWSR1_FLI1', '', 'EWSR1', 'FLI1', '23494411', '46', 'ewing sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', 'Seq', 'Nine different EWSR1-FLI1 fusion transcripts and one EWSR1-ERG fusion transcript were identified in 21 out of 23 fresh frozen EFT tissue samples.    ///    Here we present a retrospective study designed to detect all of the EWSR1-FLI1 and EWSR1-ERG fusion transcripts in a series of 23 fresh frozen EFT tissues.     ///    RT-PCR and nested fluorescent multiplex PCR were used to amplify EWSR1-FLI1 and EWSR1-ERG transcripts from EFT tissues. '), ('5488', 'LCP1_LAZ3', 't(3;13)(q27;q14) / t(3;4)(q27;p13) / t(3;11)(q27;q23) / ', 'LCP1', 'LAZ3', '10469447', '46', 'non Hodgkin lymphoma;B cell lymphoma;lymphoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'As a consequence of the translocation, the 5\' regulatory region of each gene was exchanged, creating both LCP1-LAZ3 and reciprocal LAZ3-LCP1 fusion transcripts in one case, and only a LCP1-LAZ3 fusion transcript in the other. '), ('5489', 'FGFR1_CPSF6', 't(1;9)(p34;q34) / t(8;12)(p11;q15) / t(1;9)  / t(8;12)  / ', 'FGFR1', 'CPSF6', '18205209', '46', 'leukemia\r\r', 'PCR;RT-PCR', 'Kinase', '', '', '', '', '', '', 'The predicted oncogenic products of these fusions, SFPQ-ABL and CPSF6-FGFR1, are in-frame and encode the N-terminal domain of the partner protein and the entire tyrosine kinase domain and C-terminal sequences of ABL and FGFR1. '), ('5490', 'EWSR1_ERG', '', 'EWSR1', 'ERG', '23494411', '46', 'ewing sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', 'Seq', 'Here we present a retrospective study designed to detect all of the EWSR1-FLI1 and EWSR1-ERG fusion transcripts in a series of 23 fresh frozen EFT tissues.     ///    Nine different EWSR1-FLI1 fusion transcripts and one EWSR1-ERG fusion transcript were identified in 21 out of 23 fresh frozen EFT tissue samples.     ///    RT-PCR and nested fluorescent multiplex PCR were used to amplify EWSR1-FLI1 and EWSR1-ERG transcripts from EFT tissues. '), ('5491', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '26959281', '46', 'pure red cell aplasia', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2-ERG and SLC45A3-ERG by RT-PCR, FISH, and direct sequencing.     ///    Single TMPRSS2-ERG translocation is associated with low grade PrCa.     ///    \"SLC45A3-ERG and TMPRSS2-ERG rearrangements and their association with ERG and PTEN expression and with clinical and pathological features have been analyzed in 80??rCa (PSMAR-Biobank, Barcelona, Spain). \"    ///    Concurrent TMPRSS2-ERG and SLC45A3-ERG rearrangements plus PTEN loss are not found in low grade prostate cancer and define an aggressive tumor subset..     ///    \"SLC45A3-ERG was found in 25 cases, 20 of them with concurrent TMPRSS2-ERG rearrangement: 11.5% GS??=??6, 22.2% GS??=??7, and 50% GS?????8 tumors (P??=??0.013). \"    ///    Single TMPRSS2-ERG was found in 51.6% GS?????7 and 22.2% GS?????8 tumors (P??=??0.027).     ///    Tumors with combined TMPRSS2-ERG/SLC45A3-ERG fusions plus PTEN loss should be excluded from watchful waiting and are candidates for intensive therapy. '), ('5492', 'MALT1_API2', 't(11;18)(q21;q21) / ', 'MALT1', 'API2', '11096264', '46', 'MALT lymphoma;B cell lymphoma;lymphoma\r\r', 'PCR', '', '', '', '', '', '', '', 'We determined the API2/MALT1 fusion transcript in 2 cases by Northern blot analysis and also showed that MALT1 mRNA is constitutively expressed in a variety of human tissues.     ///    The API2/MALT1 fusion product may lead to germinal center B cell lymphomas by suppression of apoptosis.. '), ('5493', 'BIRC3_MALT1', 't(11;18)(q21;q21) / t(1;14)(p22;q32) / t(14;18)(q32;q21) / ', 'BIRC3', 'MALT1', '15711920', '46', 'MALT lymphoma;lymphoma\r\r', '', '', '', '', '', '', 'KB', 'Seq', ' At least three distinct chromosomal translocations, t(11;18)(q21;q21), t(1;14)(p22;q32) and t(14;18)(q32;q21) involving the API2 (also known as c-IAP2)-MALT1 fusion protein, BCL10, and MALT1, respectively, have been implicated in the molecular pathogenesis of mucosa associated lymphoid tissue (MALT) lymphoma.     ///    \"Our findings showed that several variants of the API2-MALT1 fusion protein can occur in patients with t(11;18)(q21;q21), and that API2-MALT1 can potently enfance activation of nuclear factor (NF)-kappaB signaling, which may be relevant to the pathogenesis of MALT lymphomas. \"    ///    Anti-apoptotic action of API2-MALT1 fusion protein involved in t(11;18)(q21;q21) MALT lymphoma..     ///    \"Taken together, these findings prompt us to hypothesize that the anti-apoptotic action of API2-MALT1 may be mediated partly by the direct interaction with apoptotic regulators as well as partly by upregulation of apoptotic inhibitor genes. \"    ///    \"This stability of API2-MALT1 may thus result in inappropriate nuclear factor (NF)-kappaB activation, thereby contributing to the pathogenesis of MALT lymphoma. \"    ///    \"We recently provided direct evidence that API2-MALT1 indeed exerts anti-apoptotic action, in part, through its direct interaction with apoptotic regulators including Smac. \"    ///    \"We also found that MALT1 is rapidly degraded via the ubiquitin-proteasome pathway, as is the case with API2, but upon the synthesis of fusion, API2-MALT1 becomes stable against this pathway. \"    ///    \"It can be assumed that API2-MALT1 can bypass this normal BCL10/MALT1 cellular signaling pathway linked to NF-kappaB activation, thereby inducing antigen receptor-independent proliferation of lymphocytes. \"'), ('5494', 'TEL_JAK2', '', 'TEL', 'JAK2', '9736611', '46', 'leukemia;lymphoproliferative disorder\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Transformation of hematopoietic cell lines to growth-factor independence and induction of a fatal myelo- and lymphoproliferative disease in mice by retrovirally transduced TEL/JAK2 fusion genes..     ///    \"In contrast, mice transplanted with a TEL/JAK2 mutant lacking the TEL PNT domain (n = 10) or a kinase-inactive TEL/JAK2(JH1) mutant (n = 10) did not develop the disease. \"    ///    \"Furthermore, all TEL/JAK2 variants strongly activated STAT 5 by phosphotyrosine Western blots and by electrophoretic mobility shift assays (EMSA). \"'), ('5495', 'STL_ETV6', 't(6;12)(q23;p13) / ', 'STL', 'ETV6', '9087565', '46', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia;hematologic malignancy\r\r', '', '', '', '', '', '', '', '', 'Both reciprocal fusion transcripts can be detected: On the der(6) chromosome, the ETV6/STL mRNA shows an apparently out of frame fusion of ETV6 at nucleotide 187 to STL, which would result in the addition of 14 amino acids to the first 54 amino acids of ETV6.     ///    On the der(12) chromosome three different variants of the STL/ETV6 fusion mRNA could be detected. '), ('5496', 'MALT1_API2', 't(11;18)(q21;q21) / ', 'MALT1', 'API2', '15370267', '46', 'atopic dermatitis\r\r', '', '', '', '', '', '', '', '', 'Neither t(11;18)(q21;q21) chromosomal translocation nor API2-MALT1 chimeric transcript was found at diagnosis.     ///    It appears necessary to clarify whether atopy might play a role in the pathogenesis of API2-MALT1(-) BALT lymphoma for HIV(-) young patients who do not exhibit any other antecedent chronic antigenic stimulations..     ///    \"Human immunodeficiency virus (HIV)-negative, API2-MALT1 fusion-negative bronchus-associated lymphoid tissue (BALT) lymphoma in a young male.. \"'), ('5497', 'SLC45A3_ERG', '', 'SLC45A3', 'ERG', '26959281', '46', 'pure red cell aplasia', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2-ERG and SLC45A3-ERG by RT-PCR, FISH, and direct sequencing.     ///    \"SLC45A3-ERG was found in 25 cases, 20 of them with concurrent TMPRSS2-ERG rearrangement: 11.5% GS??=??6, 22.2% GS??=??7, and 50% GS?????8 tumors (P??=??0.013). \"    ///    \"SLC45A3-ERG and TMPRSS2-ERG rearrangements and their association with ERG and PTEN expression and with clinical and pathological features have been analyzed in 80??rCa (PSMAR-Biobank, Barcelona, Spain). \"    ///    Concurrent TMPRSS2-ERG and SLC45A3-ERG rearrangements plus PTEN loss are not found in low grade prostate cancer and define an aggressive tumor subset..     ///    Subsequent development of SLC45A3-ERG results in higher ERG expression.     ///    Tumors with combined TMPRSS2-ERG/SLC45A3-ERG fusions plus PTEN loss should be excluded from watchful waiting and are candidates for intensive therapy. '), ('5498', 'SMMHC_CBF', 'p13;q22 / ', 'SMMHC', 'CBF', '9715271', '46', '', '', '', '', '', '', '', '', '', ' The chromosomal inversion 16(p13;q22) associated with human acute myeloid leukemia generates the chimeric PEBP2 beta/CBF beta-SMMHC gene.     ///    We suggest that the action of PEBP2 beta/CBF beta-SMMHC depends to a great extent on whether it is located in the cytoplasm or in the nucleus..     ///    \"Taken together, these results indicate that the PEBP2 beta/CBF beta-SMMHC chimeric protein acts at two levels, at the level of stress fiber organization and at the level of transcriptional activation. \"    ///    \"The chimeric protein, PEBP2 beta/CBF beta-SMMHC, disorganizes cytoplasmic stress fibers and inhibits transcriptional activation.. \"    ///    \"A significant proportion of the chimeric protein was retained in the cytoskeleton after detergent extraction of the cells and could be recuperated as a membrane fraction, suggesting that this is one of the probable sites of action of the PEBP2 beta/CBF beta-SMMHC protein. \"'), ('5499', 'IL4_IL18BP', '', 'IL4', 'IL18BP', '20087753', '46', 'arthritis\r\r', '', '', '', '', '', '', '', '', 'Construction of a recombinant adenovirus vector expressing IL-18BP/IL-4 fusion gene and the anti-inflammatory effect induced by this gene on lipopolysaccharide-stimulated synovial fibroblasts..     ///     To construct a recombinant adenovirus vector for expressing the IL-18 binding protein (IL-18BP)/IL-4 fusion gene and confirm the anti-inflammatory effect of this gene.     ///    \"Moreover, NF-kappaB p50, COX-2, and iNOS levels in SF were markedly suppressed by AD-IL-18BP/IL-4. \"    ///    \"The expressions of TNF-alpha, IL-6, IL-8, and IL-18 were significantly inhibited in LPS-stimulated SF after treatment with AD-IL-18BP/IL-4. \"    ///    \"AD-IL-18BP/IL-4 can suppress the production and expression of inflammatory cytokines such as COX-2, iNOS, and NF-kappaB in LPS-stimulated SF.. \"    ///    \"To investigate the protective effects of this vector on rheumatoid arthritis, SF were infected with AD-IL-18BP/IL-4 and stimulated by LPS (1 microg/ml) 4 h later. \"    ///    AD-IL-18BP/IL-4 was used to infect synovial fibroblasts (SF).     ///    AD-IL-18BP/IL-4 can effectively express the IL-18BP/IL-4 fusion protein.     ///    The recombinant virus expressing IL-18BP/IL-4 fusion protein (AD-IL-18BP/IL-4) was constructed. '), ('5500', 'FLI1_EWSR1', 't(11;22)(q24;q12) / t(2;5)(p23;q35) / ', 'FLI1', 'EWSR1', '23568838', '46', 'anaplastic large cell lymphoma;ewing sarcoma;sarcoma;lymphoma\r\r', '', '', '', '', '', '', '', 'Seq', 'We recovered both translocations with high efficiency, resulting in the expression of the EWSR1-FLI1 and NPM1-ALK fusions. '), ('5501', 'SFPQ_ABL1', 't(1;9)(p34;q34) / t(8;12)(p11;q15) / t(1;9)  / t(8;12)  / ', 'SFPQ', 'ABL1', '18205209', '46', 'leukemia\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The predicted oncogenic products of these fusions, SFPQ-ABL and CPSF6-FGFR1, are in-frame and encode the N-terminal domain of the partner protein and the entire tyrosine kinase domain and C-terminal sequences of ABL and FGFR1. '), ('5502', 'SDF1_HOXB4', '', 'SDF1', 'HOXB4', '25628780', '46', '', '', '', '', '', '', '', '', '', 'Using recombinant adenoviruses, we generated genetically modified BM-MSCs that expressed SDF-1, HOXB4, and an SDF-1/HOXB4 fusion gene.     ///    We found that co-culturing the SDF-1/HOXB4 fusion gene-modified MSCs (SDF-1/HOXB4-MSCs) and human umbilical cord blood CD34(+) cells significantly improved HSC cell expansion in vitro.     ///    \"Therefore, SDF-1/HOXB4-MSCs could have therapeutic value by improving the efficacy of clinical transplantations in patients with defective hematopoiesis.. \"    ///    Our study demonstrates that SDF-1/HOXB4-MSCs markedly accelerate hematopoietic recovery and significantly improve survival among mice treated with a lethal dose of irradiation.     ///    \"More importantly, co-transplantation of CD34(+) cells and SDF-1/HOXB4-MSCs markedly increased the hematopoietic potential of irradiated mice as evidenced by the rapid recovery of WBC, PLT and HGB levels in peripheral blood and of BM cellularity. \"    ///    Co-transplantation with mesenchymal stem cells expressing a SDF-1/HOXB4 fusion protein markedly improves hematopoietic stem cell engraftment and hematogenesis in irradiated mice.. '), ('5503', 'MLL_SEPT9', 't(11;17)(q23;q25) / t(11;17)  / t(11;17)(q23;q21) / t(11;22)(q23;q11) / ', 'MLL', 'SEPT9', '10485469', '45', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', 'KB', '', 'The MLL-AF17q25 fusion transcript consisted of type I AF17q25 transcript. '), ('5504', 'EWS_ERG', '', 'EWS', 'ERG', '9706984', '45', 'neuroectodermal tumor;desmoplastic small round cell tumor;ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'This is the third report of a hybrid tumor with features of the desmoplastic small round cell tumor and Ewing\'s sarcoma/peripheral primitive neuroectodermal tumor, and the first one with the EWS/ERG fusion gene.     ///    Intraabdominal desmoplastic small round cell tumor with EWS/ERG fusion transcript..     ///    \"Reverse transcription polymerase chain reaction revealed a EWS/ERG fusion transcript characteristic of the Ewing\'s sarcoma/peripheral primitive neuroectodermal tumor group of tumors, rather than the EWS/WT1 chimeric transcript typical of the desmoplastic small round cell tumor. \"'), ('5505', 'MLLT2_LAF4', '', 'MLLT2', 'LAF4', '17459201', '45', 'leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'Fourteen fusion genes, including PML/RARalpha, PLZF/RARalpha, BCR/ABL, MLL/AF1, MLL/AF6, MLL/AF10, AML/Eto, CBFbeta/MYH11, TLS/ERG, TEL/AML1, MOZ/CBP, MLL/hCDCrel, LAF4/MLLT2, and FIP1L1/PDGFRalpha, and activation of all 4 proto-oncogenes were found in the 31 samples. '), ('5506', 'TLS_ERG', '', 'TLS', 'ERG', '17459201', '45', 'leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'Fourteen fusion genes, including PML/RARalpha, PLZF/RARalpha, BCR/ABL, MLL/AF1, MLL/AF6, MLL/AF10, AML/Eto, CBFbeta/MYH11, TLS/ERG, TEL/AML1, MOZ/CBP, MLL/hCDCrel, LAF4/MLLT2, and FIP1L1/PDGFRalpha, and activation of all 4 proto-oncogenes were found in the 31 samples. '), ('5507', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '17890911', '45', 'dermatofibrosarcoma,;fibromyxoma', '', '', 'Oncogene', '', '', '', 'KB', '', 'Polymerase chain reaction technique showed in one case the characteristic COL1A1-PDGFB fusion gene. '), ('5508', 'MLL_AF1', '', 'MLL', 'AF1', '17459201', '45', 'leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'Fourteen fusion genes, including PML/RARalpha, PLZF/RARalpha, BCR/ABL, MLL/AF1, MLL/AF6, MLL/AF10, AML/Eto, CBFbeta/MYH11, TLS/ERG, TEL/AML1, MOZ/CBP, MLL/hCDCrel, LAF4/MLLT2, and FIP1L1/PDGFRalpha, and activation of all 4 proto-oncogenes were found in the 31 samples. '), ('5509', 'MLL_LAF4', '', 'MLL', 'LAF4', '17459201', '45', 'leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'Fourteen fusion genes, including PML/RARalpha, PLZF/RARalpha, BCR/ABL, MLL/AF1, MLL/AF6, MLL/AF10, AML/Eto, CBFbeta/MYH11, TLS/ERG, TEL/AML1, MOZ/CBP, MLL/hCDCrel, LAF4/MLLT2, and FIP1L1/PDGFRalpha, and activation of all 4 proto-oncogenes were found in the 31 samples. '), ('5510', 'MLL_AF10', '', 'MLL', 'AF10', '17459201', '45', 'leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'Fourteen fusion genes, including PML/RARalpha, PLZF/RARalpha, BCR/ABL, MLL/AF1, MLL/AF6, MLL/AF10, AML/Eto, CBFbeta/MYH11, TLS/ERG, TEL/AML1, MOZ/CBP, MLL/hCDCrel, LAF4/MLLT2, and FIP1L1/PDGFRalpha, and activation of all 4 proto-oncogenes were found in the 31 samples. '), ('5511', 'TEL_AML1', '', 'TEL', 'AML1', '17459201', '45', 'leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'Fourteen fusion genes, including PML/RARalpha, PLZF/RARalpha, BCR/ABL, MLL/AF1, MLL/AF6, MLL/AF10, AML/Eto, CBFbeta/MYH11, TLS/ERG, TEL/AML1, MOZ/CBP, MLL/hCDCrel, LAF4/MLLT2, and FIP1L1/PDGFRalpha, and activation of all 4 proto-oncogenes were found in the 31 samples. '), ('5512', 'EML4_ALK', '', 'EML4', 'ALK', '25265433', '45', 'non small cell lung cancer;lung cancer\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Among the mutations described in non-small cell lung carcinoma is a rearrangement resulting from an inversion within chromosome 2p leading to the formation of a fusion gene, echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase (EML4-ALK).     ///    The role of immunohistochemical analysis in the evaluation of EML4-ALK gene rearrangement in lung cancer..     ///    \"Sensitivity of the EML4-ALK IHC stain is excellent (100%) but due to its suboptimal specificity, IHC cannot reliably supplant FISH analysis for the detection of ALK gene rearrangements. \"    ///    \"One of the 4 FISH-negative, IHC-positive cases harbored an EML4-ALK rearrangement by RT-PCR yielding 3 false-positive results overall. \"    ///    \"The sensitivity and specificity of the EML4-ALK IHC stain compared with ALK FISH analysis were 100% and 96%, respectively. \"    ///    \"A total of 110 non-small cell lung carcinoma cases (63 surgical/biopsy and 47 cytology specimens), previously tested for ALK gene rearrangements by FISH [7 (6.4%) positive for the rearrangement], were probed for the EML4-ALK fusion protein using a monoclonal EML4-ALK antibody, clone 5A4. \"    ///    Immunohistochemistry (IHC) using an antibody directed against the EML4-ALK fusion protein provides a widely available alternative method of detection. '), ('5513', 'TAL1_SIL', '', 'TAL1', 'SIL', '22994759', '45', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', '', '', 'Five major risk stratifying fusion genes in ALL are BCR-ABL, MLL-AF4, ETV6-RUNX11, E2A-PBX1 and SIL-TAL1.     ///    11) and SIL-TAL1 (Del 1p32) were found in 82/104 (79%) patients. '), ('5514', 'DEK_CAN', 't(6;9)  / ', 'DEK', 'CAN', '12841393', '45', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The localized cell growth was first recognized by an apparent discrepancy in the DEK-CAN fusion transcript levels between the aspirates from the left and right iliac bone marrow. '), ('5515', 'TAL_SIL', '', 'TAL', 'SIL', '22994759', '45', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'TCF3-PBX1 fusion gene was associated with lymphadenopathy, SIL-TAL positive patients had frequent organomegaly and usually presented with a platelets count of less than 50 x10(9)/l. '), ('5516', 'MALT1_API2', 't(11;18)(q21;q21) / ', 'MALT1', 'API2', '15338367', '45', 'MALT lymphoma;B cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'The positive rate of API2-MALT1 fusion transcripts was significantly greater in patients with multiple lesions with either single or multiple organ involvement than in those with a single gastric lesion (71.4% vs 12.5%.     ///    Gastric MALT lymphoma with multiple organ involvement is often associated with API2-MALT1 fusion transcripts. '), ('5517', 'TEL_AML1', 't(12;21)(p13;q22) / ', 'TEL', 'AML1', '17956600', '45', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'We compared the leukemia cell gene expression profiles of 16 TEL/AML1-positive ALL patients to those of 44 TEL/AML1-negative patients, whose blast cells did not contain any additional recurrent translocation.     ///    Microarray analyses of 26 samples allowed the identification of genes differentially expressed between the TEL/AML1-positive and negative ALL groups.     ///    \"Gene enrichment analysis defined five enriched GO categories: cell differentiation, cell proliferation, apoptosis, cell motility and response to wounding, associated with 14 genes -RUNX1, TCFL5, TNFRSF7, CBFA2T3, CD9, SCARB1, TP53INP1, ACVR1C, PIK3C3, EGFL7, SEMA6A, CTGF, LSP1, TFPI - highlighting the biology of the TEL/AML1 sub-group. \"    ///    Five distinct biological processes and 14 differentially expressed genes characterize TEL/AML1-positive leukemia..     ///    \"Gene expression analyses of leukemia cells from 60 children with TEL/AML1-positive and -negative B-lineage ALL led to the identification of five biological processes, associated with 14 validated genes characterizing and highlighting the biology of the TEL/AML1-positive ALL sub-group.. \"    ///    \"TEL/AML1-positive patients are thus an interesting subgroup to study, and such studies should elucidate the biological processes underlying TEL/AML1 pathogenesis. \"'), ('5518', 'TLS_CHOP', 't(12;16)(q13;p11) / ', 'TLS', 'CHOP', '23837023', '45', 'liposarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Currently, only one of these cases has been cytogenetically analyzed, and the analysis indicated that it was a type II TLS-CHOP fusion transcript in both the typical myxoid liposarcoma and cartilaginous areas. '), ('5519', 'MLL_ELL', '', 'MLL', 'ELL', '15355694', '45', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', 'Seq', 'Of the 50 childhood ALL patients, 18 (36.0%) carried 11 types of fusion genes including E2A/PBX1, TEL/AML1, TLS/ERG, MLL/AF4, MLL/AF9, MLL/AF10, MLL/AFX, MLL/AF6, MLL/ELL, TAL1D, and HOX11, revealed by multiplex RT-PCR, and in 48 cases, 24 (57.1%) had chromosome abnormalities. '), ('5520', 'MOZ_CBP', '', 'MOZ', 'CBP', '17459201', '45', 'leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'Fourteen fusion genes, including PML/RARalpha, PLZF/RARalpha, BCR/ABL, MLL/AF1, MLL/AF6, MLL/AF10, AML/Eto, CBFbeta/MYH11, TLS/ERG, TEL/AML1, MOZ/CBP, MLL/hCDCrel, LAF4/MLLT2, and FIP1L1/PDGFRalpha, and activation of all 4 proto-oncogenes were found in the 31 samples. '), ('5521', 'KRAS_EGFR', '', 'KRAS', 'EGFR', '20624322', '45', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'The EML4-ALK fusion gene was present at a high frequency in Chinese NSCLC patients, particularly in those with adenocarcinomas lacking EGFR/KRAS mutations.     ///    \"The EML4-ALK fusion was associated with non-smokers (P = 0.03), younger age of onset (P = 0.03), and adenocarcinomas without EGFR/KRAS mutations (P = 0.04). \"'), ('5522', 'MLL_NCKIPSD', 't(3;11)(p21;q23) / ', 'MLL', 'NCKIPSD', '11241789', '45', 'leukemia\r\r', '', '', '', '', '', '', 'KB', '', 'Analysis of the DNA from the patient\'s leukemic cells revealed that intron 6 of the MLL gene was fused at a point upstream of exon 1 in the AF3p21 gene, and that the der(11) chromosome formed an MLL-AF3p21 fusion transcript in leukemic cells, whereas the der(3) chromosome did not form any fusion transcript. '), ('5523', 'MLL_AF10', '', 'MLL', 'AF10', '15355694', '45', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Of the 50 childhood ALL patients, 18 (36.0%) carried 11 types of fusion genes including E2A/PBX1, TEL/AML1, TLS/ERG, MLL/AF4, MLL/AF9, MLL/AF10, MLL/AFX, MLL/AF6, MLL/ELL, TAL1D, and HOX11, revealed by multiplex RT-PCR, and in 48 cases, 24 (57.1%) had chromosome abnormalities. '), ('5524', 'TERT_IRX2', '5p15.33 / ', 'TERT', 'IRX2', '25481751', '45', 'clear cell sarcoma;sarcoma\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'In addition, a novel IRX2-TERT fusion transcript was identified in one case. '), ('5525', 'TLS_ERG', '', 'TLS', 'ERG', '15355694', '45', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Of the 50 childhood ALL patients, 18 (36.0%) carried 11 types of fusion genes including E2A/PBX1, TEL/AML1, TLS/ERG, MLL/AF4, MLL/AF9, MLL/AF10, MLL/AFX, MLL/AF6, MLL/ELL, TAL1D, and HOX11, revealed by multiplex RT-PCR, and in 48 cases, 24 (57.1%) had chromosome abnormalities. '), ('5526', 'TPR_MET', 't(1;7)(q23;q32) / ', 'TPR', 'MET', '2250912', '45', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Analysis of hybrid cells containing TPR-MET demonstrated that both the upstream and downstream portions of MET are conserved in this rearrangement and that oncogene activation occurred by an insertion of TPR sequences into the MET locus.     ///    One allele is the TPR-MET oncogene which was activated by fusion of the MET locus on chromosome 7 with the TPR locus on chromosome 1. '), ('5527', 'MLL_FOXO4', '', 'MLL', 'FOXO4', '15355694', '45', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', '', 'Of the 50 childhood ALL patients, 18 (36.0%) carried 11 types of fusion genes including E2A/PBX1, TEL/AML1, TLS/ERG, MLL/AF4, MLL/AF9, MLL/AF10, MLL/AFX, MLL/AF6, MLL/ELL, TAL1D, and HOX11, revealed by multiplex RT-PCR, and in 48 cases, 24 (57.1%) had chromosome abnormalities. '), ('5528', 'FUS_DDIT3', 't(12;16)(q13;p11) / t(12;22)(q13;q12) / ', 'FUS', 'DDIT3', '20581806', '44', 'liposarcoma;sarcoma\r\r', 'PCR;ISH', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'In addition to the common fusions, our assay also identified a novel FUS-DDIT3 fusion between exon 9 of FUS and exon 3 of DDIT3 in one of the cases..     ///    Detection of myxoid liposarcoma-associated FUS-DDIT3 rearrangement variants including a newly identified breakpoint using an optimized RT-PCR assay..     ///    \"Although a number of different variant breakpoints have been described, greater than 90% of all cases have one of the three different FUS-DDIT3 fusions, which may have clinical significance. \"    ///    \"One case was consistently negative by RT-PCR, but showed a FUS rearrangement by fluorescent in situ hybridization, suggesting that it may harbor one of the rarer FUS-DDIT3 chimeric types. \"    ///    \"We obtained RNA from 32 MLS cases, of which 27 carried one of the three common FUS-DDIT3 chimeric transcript types. \"'), ('5529', 'MLL_AF9', 't(9;11)(p22;q23) / ', 'MLL', 'AF9', '10861294', '44', 'leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'DNA structural properties of AF9 are similar to MLL and could act as recombination hot spots resulting in MLL/AF9 translocations and leukemogenesis.. '), ('5530', 'EML4_ALK', '', 'EML4', 'ALK', '24133367', '44', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'RET fusion genes were mutually exclusive from EGFR, KRAS mutations and EML4-ALK fusion. '), ('5531', 'EML4_ALK', '', 'EML4', 'ALK', '25157770', '44', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The demographic data and clinical outcomes of patients with the ROS1 fusion gene were compared with those of patients without the ROS1 fusion gene, including those with the EGFR mutation, EML4-ALK fusion, KRAS mutation, and quadruple-negative patients. '), ('5532', 'EML4_ALK', '', 'EML4', 'ALK', '26544515', '44', 'non small cell lung cancer', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Rearranged EML4-ALK fusion transcripts sequester in circulating blood platelets and enable blood-based crizotinib response monitoring in non-small-cell lung cancer..     ///    Monitoring of EML4-ALK rearrangements in the platelets of one patient over a period of 30 months revealed crizotinib resistance two months prior to radiographic disease progression.    ///    \"However, despite initial response, most patients will eventually relapse, and monitoring EML4-ALK rearrangements over the course of treatment may help identify these patients. \"    ///    RT-PCR demonstrated 65% sensitivity and 100% specificity for the detection of EML4-ALK rearrangements in platelets.     ///    \"Platelets are a valuable source for the non-invasive detection of EML4-ALK rearrangements and may prove useful for predicting and monitoring outcome to crizotinib, thereby improving clinical decisions based on radiographic imaging alone.. \"    ///     Non-small-cell lung cancers harboring EML4-ALK rearrangements are sensitive to crizotinib. '), ('5533', 'MALT1_API2', '', 'MALT1', 'API2', '16105761', '44', 'MALT lymphoma;lymphoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Detection of API2-MALT1 fusion transcripts in cytologic specimens of patients with pulmonary mucosa-associated lymphoid tissue lymphoma..     ///    \"In this study, we performed a multiplex reverse transcription-polymerase chain reaction (RT-PCR) assay to detect the API2-MALT1 fusion transcript in archival cytologic specimens used as RNA sources. \"    ///    This finding suggests that such specimens can be used as RNA sources in multiplex RT-PCR assays for the API2-MALT1 fusion transcript.     ///    API2-MALT1 fusion is specific to MALT lymphoma and is detected in nearly half of the pulmonary cases.     ///    \"The detection of API2-MALT1 fusion as carried out with these specimens would be useful as an ancillary assay for the diagnosis, staging, and follow-up of pulmonary MALT lymphoma.. \"'), ('5534', 'SLC45A3_ELK4', '', 'SLC45A3', 'ELK4', '19293179', '44', 'prostate cancer\r\r', 'PCR', '', '', '', '', '', 'KB', 'Seq', 'In this study, we identified a novel ETS family fusion transcript, SLC45A3-ELK4, and found it to be expressed in both benign prostate tissue and prostate cancer.     ///    SLC45A3-ELK4 is a novel and frequent erythroblast transformation-specific fusion transcript in prostate cancer..     ///    \"Based on quantitative PCR analyses of DNA, unlike other ETS fusions described in prostate cancer, the expression of SLC45A3-ELK4 mRNA is not exclusive to cases harboring a chromosomal rearrangement. \"    ///    \"Altogether, our findings show that SLC45A3-ELK4 mRNA expression is heterogeneous, highly induced in a subset of prostate cancers, androgen regulated, and most commonly occurs through a mechanism other than chromosomal rearrangement (e.g., trans-splicing).. \"    ///    SLC45A3-ELK4 transcript can be detected at high levels in urine samples from men at risk for prostate cancer.     ///    \"Treatment of LNCaP cancer cells with a synthetic androgen (R1881) revealed that SLC45A3-ELK4, and not endogenous ELK4, mRNA expression is androgen regulated. \"    ///    We found high levels of SLC45A3-ELK4 mRNA restricted to a subset of prostate cancer samples. '), ('5535', 'TFG_ALK', 't(2;5)(p23;q35) / ', 'TFG', 'ALK', '11943732', '44', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In addition, in common with NPM-ALK, the TFG-ALK proteins formed stable complexes with the signaling proteins Grb2, Shc, and PLC-gamma.     ///    Transfection experiments using NIH-3T3 fibroblasts showed a similar transforming efficiency of TFG-ALK variants compared with NPM-ALK.     ///    \"In this study, we have identified a new ALK rearrangement in which the catalytic domain of ALK was fused to a larger fragment of the TFG gene (TFG-ALK(XL)), encoding for a fusion protein of 113 kd.\"    ///    \"Genomic analysis of these three TFG-ALK rearrangements revealed that the TFG breakpoints occur at introns 3, 4, and 5, respectively, whereas the ALK breakpoints always occur in the same intron. \"    ///    \"These two rearrangements encoded chimeric proteins of 85 kd (TFG-ALK(S)) and 97 kd (TFG-ALK(L)), respectively. \"    ///    Diversity of genomic breakpoints in TFG-ALK translocations in anaplastic large cell lymphomas: identification of a new TFG-ALK(XL) chimeric gene with transforming activity.. '), ('5536', 'SYT_SSX2', '', 'SYT', 'SSX2', '15257548', '44', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'SYT-SSX1 and SYT-SSX2 fusion gene transcripts were detected in 9 and 2 cases, respectively. '), ('5537', 'KMT2A_MLLT3', 't(2;8)(p11.2;p22) / t(1;7)(q25;q32) / t(5;6)(q21;q21) / / ', 'KMT2A', 'MLLT3', '26648836', '44', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', '', 'KB', '', 'Since December 2002, RT-PCR determinations were systematically carried out for BCR-ABL1, KMT2A-AFF1, ETV6-RUNX1, and TCF3-PBX1 rearrangements in children, adding KMT2A-MLLT3 and KMT2A-MLLT1 in infants.    ///    \"Since December 2002, RT-PCR determinations were systematically carried out for BCR-ABL1, KMT2A-AFF1, ETV6-RUNX1, and TCF3-PBX1 rearrangements in children, adding KMT2A-MLLT3 and KMT2A-MLLT1 in infants. \"'), ('5538', 'SYT_SSX1', '', 'SYT', 'SSX1', '15257548', '44', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'SYT-SSX1 and SYT-SSX2 fusion gene transcripts were detected in 9 and 2 cases, respectively. '), ('5539', 'KMT2A_AFF1', 't(2;8)(p11.2;p22) / t(1;7)(q25;q32) / t(5;6)(q21;q21) / / ', 'KMT2A', 'AFF1', '26648836', '44', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'Since December 2002, RT-PCR determinations were systematically carried out for BCR-ABL1, KMT2A-AFF1, ETV6-RUNX1, and TCF3-PBX1 rearrangements in children, adding KMT2A-MLLT3 and KMT2A-MLLT1 in infants.    ///    \"Since December 2002, RT-PCR determinations were systematically carried out for BCR-ABL1, KMT2A-AFF1, ETV6-RUNX1, and TCF3-PBX1 rearrangements in children, adding KMT2A-MLLT3 and KMT2A-MLLT1 in infants. \"    ///    \"We compared cytogenetic and RT-PCR results for BCR-ABL1, KMT2A-AFF1 and TCF3-PBX1 rearrangements in 497 children evaluated by both methods. \"'), ('5540', 'MLL_CDK6', 't(4;11)  / del(7)(q21q31) / ', 'MLL', 'CDK6', '11930009', '44', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'CDK6-MLL is a new fusion of both genes..     ///    \"The in-frame CDK6-MLL transcript is provocative with respect to a potential contribution of the predicted Cdk6-MLL fusion protein in the genesis of the ALL, which also contains an in-frame MLL-AF4 transcript. \"'), ('5541', 'EWS_ERG', '', 'EWS', 'ERG', '7524604', '44', 'ewing sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Two tumours expressed EWS/ERG fusion transcripts involving EWS exon 7 and ERG exon 6.     ///    We have analysed tumour-derived material from 30 ET patients with well-documented clinical course (18 with localised and 12 with metastatic disease at diagnosis) for the presence of EWS/FLI-1 or EWS/ERG RNA. '), ('5542', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '19663837', '44', 'dermatofibrosarcoma protuberans;sarcoma\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', '', 'KB', '', 'Of the 10 samples examined, 9 had the COL1A1/PDGFB fusion transcript by DNA sequencing.     ///    Detection of the COL1A1/PDGFB fusion transcript may be important for the diagnosis of DFSP. '), ('5543', 'HMGA2_FHIT', '', 'HMGA2', 'FHIT', '21927843', '44', 'chondroid syringoma', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', '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; this was performed using formalin-fixed paraffin-embedded tumor tissue specimens of 16 cutaneous mixed tumors including one sample with an adenocarcinoma component.    ///    \"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. \"'), ('5544', 'PRKY_PRKX', '8p23.1 / ', 'PRKY', 'PRKX', '11231899', '44', '', '', 'Kinase', '', '', '', '', '', '', 'After the Yp inversion polymorphism, which is the preferential background for the PRKX/PRKY translocation in XX males and XY females, the OR-8p inversion is the second genomic polymorphism that confers susceptibility to the formation of common chromosome rearrangements. '), ('5545', 'TCF3_PBX1', 't(2;8) / inv(4)(p16q25) / t(1;7)(q25;q32) / t(5;6)(q21;q21) / ', 'TCF3', 'PBX1', '26648836', '44', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'We compared cytogenetic and RT-PCR results for BCR-ABL1, KMT2A-AFF1 and TCF3-PBX1 rearrangements in 497 children evaluated by both methods.     ///    \"Since December 2002, RT-PCR determinations were systematically carried out for BCR-ABL1, KMT2A-AFF1, ETV6-RUNX1, and TCF3-PBX1 rearrangements in children, adding KMT2A-MLLT3 and KMT2A-MLLT1 in infants. \"'), ('5546', 'BCR_ABL1', 't(9;22)  / ', 'BCR', 'ABL1', '18406872', '44', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'To date, however, the frequency of such deletions in the subgroup of CML patients in whom the BCR/ABL1 fusion arises via submicroscopic chromosomal insertion (masked Ph) has not been investigated. '), ('5547', 'RARA_PML', 't(11;17) / ', 'RARA', 'PML', '1375719', '44', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'A third PML-RAR-alpha mRNA isoform, in which the most 3\' PML exon present in the long-type isoform was truncated in its sequences lying immediately upstream of RAR-alpha B region, was found and characterized in a single patient. '), ('5548', 'PLAG1_CTNNB1', '', 'PLAG1', 'CTNNB1', '21927843', '44', 'chondroid syringoma', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', '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. '), ('5549', 'PLAG1_CHCHD7', '', 'PLAG1', 'CHCHD7', '21927843', '44', 'chondroid syringoma', 'PCR;RT-PCR', '', '', '', '', '', '', '', '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. '), ('5550', 'TCEA1_PLAG1', '', 'TCEA1', 'PLAG1', '21927843', '44', 'chondroid syringoma', 'PCR;RT-PCR', '', '', '', '', '', 'KB', '', '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. '), ('5551', 'SYT_SSX', '', 'SYT', 'SSX', '21501298', '44', 'sarcoma\r\r', '', '', '', '', '', '', '', '', 'SYT-SSX fusion gene was not detected with reverse transcription polymerase chain reaction. '), ('5552', 'TEL_AML1', '', 'TEL', 'AML1', '10846434', '44', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', ' Along a 5-year period in a single institution, specific molecular markers were prospectively looked for in consecutive patients with acute leukemia, by means of polymerase chain reaction (PCR): In patients with acute lymphoblastic leukemia (ALL), the BCR/ABL and TEL-AML1 fusion transcripts as well as clonotypic immunoglobulin gene rearrangements were investigated, whereas in patients with acute myelogenous leukemia (AML) the PML-RAR alpha, AML1-ETO and CBF beta-MYH11 fusion proteins were assessed. '), ('5553', 'TML1_TCL1', 't(14;14) / ', 'TML1', 'TCL1', '10851082', '44', 'T cell leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'namely, TCL1 and TML1/TCL1b genes. '), ('5554', 'SYT_SSX', '', 'SYT', 'SSX', '15043115', '44', 'synovial sarcoma;osteosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'A fusion gene, SYT-SSX was detected with reverse transcription-polymerase chain reaction. '), ('5555', 'RUNX1_ETV6', 't(2;8) / inv(4)(p16q25) / t(1;7)(q25;q32) / t(5;6)(q21;q21) / ', 'RUNX1', 'ETV6', '26648836', '44', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Since December 2002, RT-PCR determinations were systematically carried out for BCR-ABL1, KMT2A-AFF1, ETV6-RUNX1, and TCF3-PBX1 rearrangements in children, adding KMT2A-MLLT3 and KMT2A-MLLT1 in infants. '), ('5556', 'MSH2_EPCAM', '', 'MSH2', 'EPCAM', '21791569', '44', 'endometrial cancer', 'PCR', '', '', '', '', '', '', 'Seq', 'EPCAM-MSH2 fusion transcript was isolated.     ///    \"In 10 Lynch syndrome families without MSH2 mutations, EPCAM-MSH2genomic rearrangement screening was carried out with the use of multiplex ligation-dependent probe amplification and reverse transcriptase PCR. \"    ///    \"Thus, the identification of EPCAM-MSH2 rearrangements and their comprehensive characterization should be included in the routine mutation screening protocols for Lynch syndrome.. \"    ///    \"A new combined deletion EPCAM-MSH2 was identified and characterized by break point analysis, encompassing from the 3\' end region of EPCAM to the 5\' initial sequences of the MSH2 (c.859-1860_MSH2:646-254del). \"'), ('5557', 'RARA_PML', 't(15;17)  / t(15;17)(q22;q21) / t(15;17) / ', 'RARA', 'PML', '12508246', '44', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'amplified and sequenced the genomic PML-RARA junction sequences from 37 APL patients, and (iii).     ///    amplified and sequenced the reverse RARA-PML genomic fusion in 29 of these cases. '), ('5558', 'MLLT1_KMT2A', 't(2;8) / inv(4)(p16q25) / t(1;7)(q25;q32) / t(5;6)(q21;q21) / ', 'MLLT1', 'KMT2A', '26648836', '44', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', '', 'KB', '', 'Since December 2002, RT-PCR determinations were systematically carried out for BCR-ABL1, KMT2A-AFF1, ETV6-RUNX1, and TCF3-PBX1 rearrangements in children, adding KMT2A-MLLT3 and KMT2A-MLLT1 in infants. '), ('5559', 'MSCS_HOXB4', '', 'MSCS', 'HOXB4', '25628780', '44', '', '', '', '', '', '', '', '', '', 'We found that co-culturing the SDF-1/HOXB4 fusion gene-modified MSCs (SDF-1/HOXB4-MSCs) and human umbilical cord blood CD34(+) cells significantly improved HSC cell expansion in vitro.     ///    \"More importantly, co-transplantation of CD34(+) cells and SDF-1/HOXB4-MSCs markedly increased the hematopoietic potential of irradiated mice as evidenced by the rapid recovery of WBC, PLT and HGB levels in peripheral blood and of BM cellularity. \"    ///    \"Therefore, SDF-1/HOXB4-MSCs could have therapeutic value by improving the efficacy of clinical transplantations in patients with defective hematopoiesis.. \"    ///    Our study demonstrates that SDF-1/HOXB4-MSCs markedly accelerate hematopoietic recovery and significantly improve survival among mice treated with a lethal dose of irradiation. '), ('5560', 'BCR_ABL1', 't(2;8) / inv(4)(p16q25) / t(1;7)(q25;q32) / t(5;6)(q21;q21) / ', 'BCR', 'ABL1', '26648836', '44', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Since December 2002, RT-PCR determinations were systematically carried out for BCR-ABL1, KMT2A-AFF1, ETV6-RUNX1, and TCF3-PBX1 rearrangements in children, adding KMT2A-MLLT3 and KMT2A-MLLT1 in infants.     ///    \"We compared cytogenetic and RT-PCR results for BCR-ABL1, KMT2A-AFF1 and TCF3-PBX1 rearrangements in 497 children evaluated by both methods. \"'), ('5561', 'PLAG1_LIFR', '', 'PLAG1', 'LIFR', '21927843', '44', 'chondroid syringoma', 'PCR;RT-PCR', '', '', '', '', '', '', '', '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. '), ('5562', 'STARD3_PPP1R1B', '', 'STARD3', 'PPP1R1B', '24276243', '44', 'gastric cancer\r\r', 'PCR', '', '', '', '', '', '', '', 'PPP1R1B-STARD3 fusion transcript was detected in 21.3% of primary human gastric cancers but not in adjacent matched normal gastric tissues.     ///    \"Furthermore, expression of PPP1R1B-STARD3 fusion transcript enhanced the tumor growth of MKN-28 cells in athymic nude mice. \"    ///    These findings show that PPP1R1B-STARD3 fusion transcript has a key role in subsets of gastric cancers through the activation of PI3K/AKT signaling.     ///    Multiple samples revealed expression of PPP1R1B-STARD3 fusion transcript.     ///    PPP1R1B-STARD3 chimeric fusion transcript in human gastric cancer promotes tumorigenesis through activation of PI3K/AKT signaling..     ///    \"Based on reverse transcription PCR analysis of DNA, unlike other fusions described in gastric cancer, the PPP1R1B-STARD3 appears to be generated by RNA processing without chromosomal rearrangement. \"    ///    The presence of PPP1R1B-STARD3 correlated with elevated levels of PPP1R1B mRNA.     ///    Overexpression of PPP1R1B-STARD3 in MKN-28 significantly increased cell proliferation and colony formation. '), ('5563', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '16040406', '43', 'dermatofibrosarcoma protuberans;sarcoma\r\r', 'PCR', '', 'Oncogene', '', '', '', 'KB', '', 'The COL1A1-PDGFB fusion transcripts were detected from the tumour specimens. '), ('5564', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '14643521', '43', 'dermatofibrosarcoma protuberans;sarcoma\r\r', 'PCR', '', 'Oncogene', '', '', '', 'KB', '', 'The COL1A1-PDGFB fusion transcripts were detected from the tumor specimens. '), ('5565', 'SYT_SSX2', '', 'SYT', 'SSX2', '9950196', '43', 'desmoplastic small round cell tumor;soft tissue neoplasm;spindle cell sarcoma', '', '', '', '', '', '', '', '', 'Reverse transcriptase-polymerase chain reaction revealed the SYT/SSX2 fusion transcript of the synovial sarcoma t(X;18) chromosomal rearrangement. '), ('5566', 'EWSR1_CREB1', 't(12;22)(q13;q12) / t(2;22)(q34;q12) / ', 'EWSR1', 'CREB1', '19561568', '43', 'clear cell sarcoma', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', 'KB', '', 'Fluorescence in situ hybridization (FISH) analysis using the LSI EWSR1 break-apart probe and a reverse transcription polymerase chain reaction (RT-PCR) assay optimized for formalin-fixed paraffin-embedded tissue to detect all four reported EWSR1/ATF1 clear cell sarcoma chimeric types and the EWSR1/CREB1 variant was performed.     ///    One case carried a type 2 transcript alone and one case contained an EWSR1/CREB1 transcript.     ///    Detection and characterization of EWSR1/ATF1 and EWSR1/CREB1 chimeric transcripts in clear cell sarcoma (melanoma of soft parts)..     ///    \"In addition, EWSR1-CREB1 was identified in a clear cell sarcoma of soft tissue providing further evidence that this chimeric variant is not exclusive to gastrointestinal clear cell sarcomas and should be included in RT-PCR assays of soft tissue clear cell sarcomas.. \"'), ('5567', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '19635106', '43', 'dermatofibrosarcoma protuberans;sarcoma\r\r', '', '', 'Oncogene', '', '', '', 'KB', '', 'COL1A1-PDGFB fusion transcripts were present in 89% of cases (exons 18, 19, 20, 25, 26, 31, 33/34, 39, 40, 46, 47 and 48 of COL1A1 with exon 2 of PDGFB).     ///    \"The COL1A1-PDGFB fusion was present in all histological subtypes of DFSP, but not all cases expressed the fusion transcript. \"    ///    \"Dermatofibrosarcoma protuberans: clinical, pathological, and genetic (COL1A1-PDGFB ) study with therapeutic implications.. \"    ///     To analyse the presence of collagen type I alpha 1-platelet-derived growth factor beta (COL1A1-PDGFB) transcripts in 20 cases of dermatofibrosarcoma protuberans (DFSP) and to assess the relationship between COL1A1 breakpoints and clinical and histopathological variables. '), ('5568', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '12786837', '43', 'dermatofibrosarcoma protuberans;sarcoma\r\r', 'PCR', '', 'Oncogene', '', '', '', 'KB', '', 'The COL1A1-PDGFB fusion transcript was detected from the tumour specimen. '), ('5569', 'MLL_FOXO4', 't(2;13)(q35;q14) / ', 'MLL', 'FOXO4', '9010221', '43', 'rhabdomyosarcoma;sarcoma;leukemia\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', '', 'We found that normal B- and T-cells contain similar levels of AFX mRNA and that both the MLL/AFX as well as the AFX/MLL fusion transcripts are present in the cell line and the ANLL sample with a t(X;11)(q13;q23). '), ('5570', 'BCR_ABL1', '', 'BCR', 'ABL1', '15949566', '43', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' In this study, we report the case of a Philadelphia (Ph) positive chronic myelogenous leukemia (CML) patient with the presence of p190 and p210 BCR-ABL1 mRNA fusion transcripts derived from e1a2 and b3a2 BCR-ABL1 genomic rearrangements, respectively.     ///    Coexistence of different clonal populations harboring the b3a2 (p210) and e1a2 (p190) BCR-ABL1 fusion transcripts in chronic myelogenous leukemia resistant to imatinib..     ///    \"The presence of e1a2 BCR-ABL1 genomic rearrangement was seen in 2 different clones, one with the rearrangement and another one with the rearrangement and deletion of the BCR gene of the non-rearranged chromosome 22. \"    ///    Loss of normal BCR in one cell clone may contribute to the resistance to imatinib due to the lack of BCR mediated inhibition of BCR-ABL1.. '), ('5571', 'TEL_AML1', 't(12;21)  / ', 'TEL', 'AML1', '15642392', '43', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', ' Eighty-eight multi-ethnic Malaysian pediatric acute lymphoblastic leukemia (ALL) patients were screened for the TEL-AML1 rearrangement by reverse transcription-polymerase chain reaction (RT-PCR).     ///    \"All patients, including 1 with an unusual blast cell morphology who suffered an early relapse and death, were characteristic TEL-AML1 cases in cell count, age, ALL subset classification, and fusion transcript expressed. \"    ///    \"This study shows that in Malaysia, TEL-AML1 is found in the same distinct ALL subset and at a similar frequency as in other diverse childhood ALL cohorts.. \"    ///    TEL-AML1 frequency in multi-ethnic Malaysian pediatric acute lymphoblastic leukemia.. ');
INSERT INTO `ChimerPub_dump` VALUES ('5572', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '15772698', '43', 'hypereosinophilic syndrome\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'TCRgamma gene rearrangements suggesting T clonality were seen in 11 (31%) patients, and FIP1L1-PDGFRA by RT-PCR in six (17%) of 35 patients, who showed no evidence of T-cell clonality.     ///    FISH analysis of the 4q12 deletion was concordant with FIP1L1-PDGFRA RT-PCR data.     ///    Further investigation of the nature of FIP1L1-PDGFRA affected cells will improve the classification of HES..     ///    \"In the 29 patients without FIP1L1-PDGFRA, no activating mutation of PDGFRA/PDGFRB was detected. \"    ///    \"Sequencing FIP1L1-PDGFRA revealed scattered breakpoints in FIP1L1-exons (10-13), whereas breakpoints were restricted to exon 12 of PDGFRA. \"'), ('5573', 'ETO_AML1', '', 'ETO', 'AML1', '16575000', '43', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The WT1 values were significantly higher (P = .01) in favorable cytogenetics and lower (P < .0001) in M5-FAB subtype, 11q23 rearrangements (P < .001), and infants (P = .003) and demonstrate a strong correlation with fusion transcript AML1-ETO, PML-RARalpha expression. '), ('5574', 'CD34_CD15', 't(15;17)  / ', 'CD34', 'CD15', '10329918', '43', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', '', '', 'Multivariate analysis showed that the best combination of immunologic markers for discriminating between M3/PML-RARalpha+ and non-M3/PML-RARalpha- cases was that of the presence of heterogeneous expression of CD13, the existence of a single major blast cell population, and a characteristic CD34/CD15 phenotypic pattern (p<0.02). '), ('5575', 'VCL_ALK', '', 'VCL', 'ALK', '26773439', '43', 'renal cell carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Further investigation revealed ALK rearrangements in all cases, manifested molecularly by fusion transcripts of either VCL-ALK (3 patients all with sickle cell trait which had been previously reported) or TPM3-ALK (3 patients, none with sickle cell trait). '), ('5576', 'P52_NFKB2', 't(10;14)(q24;q32) / ', 'P52', 'NFKB2', '8378093', '43', 'T cell lymphoma;B cell lymphoma;multiple myeloma;lymphoma\r\r', '', '', 'Oncogene', '', '', '', '', '', 'This gene, called lyt-10 (NFKB2/p52), is a member of the NF-kappa B family of transcription factors and displays a high degree of homology with the NFKB1/p50. '), ('5577', 'TEL_AML1', '', 'TEL', 'AML1', '9373267', '43', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The ETV6-CBFA2 (TEL-AML1) fusion transcript was found in 25 (66%) of 38 cases evaluated, and all but one of these showed ETV6 rearrangement. '), ('5578', 'MMSET_IGH', 't(4;14)(p16;q32) / t(4;14) / t(4;14)  / ', 'MMSET', 'IGH', '12393535', '43', 'monoclonal gammopathy;multiple myeloma', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Patients with the translocation were identified using reverse transcription-polymerase chain reaction (RT-PCR) to detect hybrid immunoglobulin heavy chain (IgH)-MMSET transcripts from the der(4) chromosome. '), ('5579', 'TEL_AML1', '', 'TEL', 'AML1', '17230064', '43', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The commonest fusion transcript was TEL-AML1 (19.1%) followed by BCR-ABL (7.8%), MLL rearrangements (4.2%), and E2A-PBX1 (3.1%).     ///    Chinese have a significantly lower frequency of TEL-AML1 (13.3% in de novo patients) compared with Malays (22.2%) and Indians (21.7%) (P=0.04).     ///    \"Screening for the prognostically important chromosome abnormalities (TEL-AML1, BCR-ABL, E2A-PBX1, and MLL) using multiplex reverse-transcription polymerase chain reaction was performed on 299 consecutive patients with ALL at 3 study centers (236 de novo, 63 at relapse), with the ethnic composition predominantly Chinese (51.8%) and Malay (34.8%). \"'), ('5580', 'P50_NFKB1', 't(10;14)(q24;q32) / ', 'P50', 'NFKB1', '8378093', '43', 'T cell lymphoma;B cell lymphoma;multiple myeloma;lymphoma\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'This gene, called lyt-10 (NFKB2/p52), is a member of the NF-kappa B family of transcription factors and displays a high degree of homology with the NFKB1/p50. '), ('5581', 'BCR_ABL1', '', 'BCR', 'ABL1', '24876147', '43', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', '[Chronic myeloid leukemia with variant e19a2 BCR-ABL1 fusion transcript: interest of the molecular identification at diagnosis for minimal residual disease follow-up]..     ///    \"For rare BCR-ABL1 transcripts, an international standardization, as it is developed for conventional transcripts, is lacking. \"    ///    Disease monitoring was performed by cytogenetic analyses and quantification of the BCR-ABL1 transcript.     ///    Molecular techniques identified the presence of the rare e19a2 BCR-ABL1 transcript. '), ('5582', 'SSX1_SS18', '', 'SSX1', 'SS18', '23701986', '43', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', 'KB', '', 'The diagnosis was confirmed by the presence of SS18 rearrangement and identification of the SS18-SSX1 fusion transcript. '), ('5583', 'LPP_HMGA2', '', 'LPP', 'HMGA2', '15755872', '42', '', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'In these lipomas, HMGA2/LPP fusion transcripts are expressed, which encode for the three AT-hooks of HMGA2 followed by the two most carboxyl-terminal LIM domains (protein-protein interaction domains) of LPP.     ///    These results support the concept that the transactivation functions of the novel HMGA2/LPP transcription factor contribute to lipomagenesis..    ///    These results support the concept that the transactivation functions of the novel HMGA2/LPP transcription factor contribute to lipomagenesis..     ///    \"We also show that HMGA2/LPP activates transcription from the BAT-1 element of the rhodopsin promoter, a HMGA1-binding element. \"    ///    \"Finally, in a number of lipomas, HMGA2/LPP and HMGA2 are coexpressed, and HMGA2 augments the transactivation functions of HMGA2/LPP. \"    ///    \"Here, we show that the HMGA2/LPP fusion protein retains the transactivation functions of the LPP LIM domains and thus functions as transcription factor. \"    ///    \"The HMGA2/LPP fusion protein activates transcription from the well-characterized PRDII element, which is a part of the IFN-beta enhancer and which is known to bind to HMGA2. \"    ///    Transactivation functions of the tumor-specific HMGA2/LPP fusion protein are augmented by wild-type HMGA2.. '), ('5584', 'MYH11_CBF', '', 'MYH11', 'CBF', '18445043', '42', 'myelodysplastic syndrome\r\r', 'PCR', '', '', '', '', '', '', '', 'The presence of BCR/ABL and other relevant fusion gene products (FIP1L1/PDGFRA, AML1/ETO, PML/RAR alpha, CBF beta/MYH11) were excluded by PCR. '), ('5585', 'ETO_AML1', '', 'ETO', 'AML1', '18445043', '42', 'myelodysplastic syndrome\r\r', 'PCR', '', '', '', '', '', '', '', 'The presence of BCR/ABL and other relevant fusion gene products (FIP1L1/PDGFRA, AML1/ETO, PML/RAR alpha, CBF beta/MYH11) were excluded by PCR. '), ('5586', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '18385909', '42', 'prostate cancer\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', 'Seq', 'However, TMPRSS2:ERG transcripts were not detected in any of the 15 CTC samples, including the 10 cases analyzed by FISH.     ///    \"We analyzed the frequency of TMPRSS2:ERG and TMPRSS2:ETV1 transcripts in 27 prostate cancer biopsies from prostatectomies, and TMPRSS2:ERG transcripts in CTC isolated from 15 patients with advanced androgen independent disease using reverse transcription polymerase chain reaction (RT-PCR). \"    ///    \"TMPRSS2:ERG transcripts were found in 44% of our samples, but we did not detect expression of TMPRSS2:ETV1. \"'), ('5587', 'TLS_CHOP', 't(12;16)  / ', 'TLS', 'CHOP', '10914725', '42', 'liposarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Five cases contained a TLS-CHOP rearrangement, and one case had the variant EWS-CHOP fusion (seen in <5% of cases).     ///    Monoclonality of multifocal myxoid liposarcoma: confirmation by analysis of TLS-CHOP or EWS-CHOP rearrangements.. '), ('5588', 'SEPT6_MLL', '', 'SEPT6', 'MLL', '14506700', '42', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', 'KB', '', 'Here, we report the identification of an MLL-SEPT6 fusion transcript in an infant with acute myeloid leukemia (AML)-M4.     ///    \"Reverse transcription-polymerase chain reaction confirmed the presence of an MLL-SEPT6 fusion transcript composed of exon 8 of MLL and exon 2 of SEPT6, but the absence of the reciprocal SEPT6-MLL fusion transcript. \"    ///    This is a novel type of chromosomal rearrangement leading to the MLL-SEPT6 fusion. '), ('5589', 'EML4_ALK', '', 'EML4', 'ALK', '22908099', '42', 'non small cell lung cancer;lung cancer\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' EML4-ALK is a lung cancer oncogene, and ALK inhibitors show marked therapeutic efficacy for tumors harboring this fusion gene.     ///    Screening for EML4-ALK and KIF5B-ALK with our RT-PCR system identified EML4-ALK transcripts in 36 samples (4.46%) from 32 individuals (4.24%).    ///    We here tested whether reverse transcription PCR (RT-PCR)-based detection of EML4-ALK is a sensitive and reliable approach.     ///    We propose that diagnostic tools for EML4-ALK should be selected in a manner dependent on the available specimen types.     ///    A prospective PCR-based screening for the EML4-ALK oncogene in non-small cell lung cancer.. '), ('5590', 'RARA_PML', 't(15;17)(q22;q21) / t(3;8)(p25;q12) / t(15;17) / ', 'RARA', 'PML', '8180390', '42', 'chronic myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Reverse transcriptase polymerase chain reaction (RT-PCR) confirmed the existence of hybrid transcripts of 276, 455 bp and 623 bp, from PML-RARA on the der(15) chromosome, consistent with alternate exon splicing of the long form of the transcript occurring in 50% to 60% of patients with APL. '), ('5591', 'EWS_CHOP', 't(12;16)  / ', 'EWS', 'CHOP', '10914725', '42', 'liposarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Five cases contained a TLS-CHOP rearrangement, and one case had the variant EWS-CHOP fusion (seen in <5% of cases).     ///    Monoclonality of multifocal myxoid liposarcoma: confirmation by analysis of TLS-CHOP or EWS-CHOP rearrangements.. '), ('5592', 'RAR_PL', '', 'RAR', 'PL', '21420849', '42', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'An electrochemical DNA biosensor based on NPG electrode was fabricated for detection of promyelocytic leukemia/retinoic acid receptor ? (PML/RAR?) fusion gene in acute promyelocytic leukemia (APL) by using Methylene Blue (MB) as an electroactive indicator. '), ('5593', 'FMR2_AFF2', '', 'FMR2', 'AFF2', '21330300', '42', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'AFF2/FMR2 is silenced in FRAXE intellectual disability, while the other three members have been reported to form fusion genes as a consequence of chromosome translocations with the myeloid/lymphoid or mixed lineage leukemia (MLL) gene in acute lymphoblastic leukemias (ALLs).     ///    It is possible that other members of the AFF family compensate for the loss of AFF2/FMR2 activity and as such explain the relatively mild to borderline phenotype observed in FRAXE patients..     ///    \"We have recently shown that AFF2/FMR2 localizes to nuclear speckles, subnuclear structures considered as storage/modification sites of pre-mRNA splicing factors, and modulates alternative splicing via the interaction with the G-quadruplex RNA-forming structure. \"    ///    \"We show here that similarly to AFF2/FMR2, AFF3/LAF4 and AFF4/AF5q31 localize to nuclear speckles and are able to bind RNA, having a high apparent affinity for the G-quadruplex structure. \"    ///    \"Interestingly, AFF3/LAF4 and AFF4/AF5q31, like AFF2/FMR2, modulate, in vivo, the splicing efficiency of a mini-gene containing a G-quadruplex structure in one alternatively spliced exon. \"    ///    \" The AFF (AF4/FMR2) family of genes includes four members: AFF1/AF4, AFF2/FMR2, AFF3/LAF4 and AFF4/AF5q31. \"'), ('5594', 'IGH_BCL2', '', 'IGH', 'BCL2', '12962724', '42', 'follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Direct sequencing of the Bcl-2/IgH translocation performed at diagnosis and recurrence showed identical rearrangements in six subjects and unrelated rearrangements in two.     ///     The aim of this study was to evaluate whether reappearance of polymerase chain reaction (PCR) positivity for the Bcl-2/IgH translocation following a phase of molecular remission in autografted follicular lymphoma (FL) patients is always associated with reappearance of the original neoplastic clone.     ///    This report is the first evidence that Bcl-2/IgH rearrangements unrelated to the original tumor clone can lead to false-positive results during the molecular follow-up of autografted FL patients.     ///    Recurrence of Bcl-2/IgH polymerase chain reaction positivity following a prolonged molecular remission can be unrelated to the original follicular lymphoma clone..     ///    The molecular follow-up of 119 autografted Bcl-2/IgH positive patients was evaluated by nested PCR. '), ('5595', 'PTPRZ1_MET', '', 'PTPRZ1', 'MET', '25135958', '42', 'astrocytoma', '', 'Kinase', 'Oncogene', '', '', '', '', 'Seq', 'RNA-seq of 272 gliomas revealed a novel, recurrent PTPRZ1-MET fusion transcript in secondary glioblastomas..     ///    \"Sixty-seven in-frame fusion transcripts were identified, including three recurrent fusion transcripts: FGFR3-TACC3, RNF213-SLC26A11, and PTPRZ1-MET (ZM). \"'), ('5596', 'SYT_SSX2', '', 'SYT', 'SSX2', '24560202', '42', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The diagnosis was confirmed in molecular biology by reverse transcription polymerase chain reaction (RT-PCR) which demonstrated a unique chromosomal translocation t(X;18) with SYT-SSX2 fusion transcripts. '), ('5597', 'PAX5_ETV6', '', 'PAX5', 'ETV6', '12764378', '42', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'In this work, we provide strong evidence that the PAX5/ETV6 fusion transcript defines the clinical and biological entity that is associated with the presence of a dic(9;12) chromosome.     ///    \"As the PAX5 and ETV6 genes are localized at 9p13 and 12p13, respectively, the cytogenetic description of the dic(9;12)-PAX5/ETV6 rearrangement should be refined to dic(9;12)(p13;p13).. \"    ///    PAX5/ETV6 fusion defines cytogenetic entity dic(9;12)(p13;p13).. '), ('5598', 'MLL_ENL', '', 'MLL', 'ENL', '12859878', '42', 'leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Of the 191 leukemic samples, 86 (45.0%) carried 14 types of fusion genes including SIL/TAL1, MLL/AF1q, E2A/PBX1, MLL/AF6, AML1/ETO, MLL/AF9, TEL/ABL, BCR/ABL, MLL/AF10, dupMLL, MLL/ENL, TEL/AML1, PML/RARalpha and CBFbeta/MYH11. '), ('5599', 'TACC3_FGFR3', '', 'TACC3', 'FGFR3', '25135958', '42', 'astrocytoma', '', 'Kinase', '', '', '', '', '', '', 'Sixty-seven in-frame fusion transcripts were identified, including three recurrent fusion transcripts: FGFR3-TACC3, RNF213-SLC26A11, and PTPRZ1-MET (ZM). '), ('5600', 'BCR_ABL1', '', 'BCR', 'ABL1', '26448695', '42', 'leukemia\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'BCR/ABL1 rearrangement was confirmed by fluorescent in situ hybridization (FISH) analysis.     ///    The BCR/ABL1 ES probe on interphase cells indicated p190 minor m-BCR/ABL fusion in 46% and a second abnormal clone with double Ph (+) in 16% of the cells analyzed confirmed by reverse transcription-PCR (RT-PCR). '), ('5601', 'SET_NUP214', '', 'SET', 'NUP214', '24533689', '42', 'T ALL;leukemia;breast cancer;pancreatic cancer\r\r', 'PCR', '', '', '', '', '', 'KB', '', 'It was reported that the T-ALL cell lines, ALL-SIL, BE13 and LOUCY, harbored the fusion gene NUP214-ABL1, NUP214-ABL1 and SET-NUP214, respectively. '), ('5602', 'ETO_AML1', '', 'ETO', 'AML1', '12859878', '42', 'leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Of the 191 leukemic samples, 86 (45.0%) carried 14 types of fusion genes including SIL/TAL1, MLL/AF1q, E2A/PBX1, MLL/AF6, AML1/ETO, MLL/AF9, TEL/ABL, BCR/ABL, MLL/AF10, dupMLL, MLL/ENL, TEL/AML1, PML/RARalpha and CBFbeta/MYH11. '), ('5603', 'BCR_ABL1', 't(9;9;22) / ', 'BCR', 'ABL1', '8629106', '42', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In 8 cases of Ph\' negative patients, 4 had BCR 3/ABL II rearrangement, 3 had both rearrangements while 1 had no BCR/ABL rearrangement. '), ('5604', 'BCR2_ABL1', 't(9;9;22) / ', 'BCR2', 'ABL1', '8629106', '42', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'In 18 cases of Ph\' positive patients, 13 had BCR 3/ABL II rearrangement, 1 had BCR 2/ABL II rearrangement and 4 had both rearrangements. '), ('5605', 'TEL_AML1', '', 'TEL', 'AML1', '19099709', '42', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'To detect five types of fusion genes emerging frequently in childhood ALL including TEL/AML1, E2A/PBX1, BCR/ABLp190, BCR/ABLp210, MLL/AF4, probes were designed, synthesized and spotted on the chemical-material-coated-glass plates in array.     ///    \"TEL/AML1 gene was found positive in 2 of the 36 cases, E2A/PBX1 gene in 3, BCR/ABLp190 gene in 2, BCR/ ABLp210 gene in one, and MLL/ AF4 gene in one. \"'), ('5606', 'SLC26A11_RNF213', '', 'SLC26A11', 'RNF213', '25135958', '42', 'astrocytoma', '', '', '', '', '', '', '', '', 'Sixty-seven in-frame fusion transcripts were identified, including three recurrent fusion transcripts: FGFR3-TACC3, RNF213-SLC26A11, and PTPRZ1-MET (ZM). '), ('5607', 'PPAR_PAX8', 't(2;3)(q13;p25) / ', 'PPAR', 'PAX8', '25708358', '42', 'thyroid carcinoma\r\r', 'PCR;RT-PCR', '', '', '', 'Receptor', '', '', '', 'The FTC with PAX8-PPAR? rearrangement from a 56-year-old man showed a product consistent with fusion between exon 8 of PAX8 and exon 1 of PPAR?.     ///    \"In this study, we examined PAX8-PPAR? rearrangement in 24 FTC samples from Japanese patients by reverse transcribed-polymerase chain reaction (RT-PCR) using two upstream PAX8 primers located in exons 7 and 8 and a downstream primer in exon 1 of PPAR?. \"'), ('5608', 'EBP_C/EBP', '', 'EBP', 'C/EBP', '20332486', '42', 'liposarcoma;ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The high mobility group A2 (HMGA2)-lipoma preferred partner (LPP) and the reciprocal LPP-HMGA2 represent such fusion genes in lipoma, while the human translocation liposarcoma (TLS)-CCAAT/enhancer binding protein (C/EBP) homologous protein (CHOP) and the Ewing sarcoma (EWS)-CHOP in liposarcoma. '), ('5609', 'EML4_ALK', '', 'EML4', 'ALK', '24674157', '42', 'non small cell lung cancer;lung cancer\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Considering a threshold of 100 reads for 3\' ALK region as indirect indicator of EML4-ALK rearrangement, there was 100% concordance between the novel multiplex ALK RNA-seq approach and ALK FISH among all 32 NSCLC samples.     ///    \"While fluorescent in situ hybridization (FISH) is the current gold standard for detection of EML4-ALK rearrangements, several limitations exist including high costs, time-consuming evaluation and somewhat equivocal interpretation of results. \"    ///    \"Two lung cancer cell lines and a selected series of 32 NSCLC samples including 11 cases with EML4-ALK rearrangement were analyzed with this novel approach in comparison to ALK FISH, ALK qRT-PCR and EML4-ALK RT-PCR. \"    ///    We developed a novel approach for indirect detection of EML4-ALK rearrangements based on 454 massive parallel sequencing after reverse transcription and subsequent multiplex amplification (multiplex ALK RNA-seq) which takes advantage of unbalanced expression of the 5\' and 3\' ALK mRNA regions.     ///    \"Multiplex ALK RNA-seq is a sensitive and specific method for indirect detection of EML4-ALK rearrangements, and can be easily implemented in panel based molecular diagnostic work-up of NSCLCs by massive parallel sequencing.. \"    ///    \"The H2228 cell line with known EML4-ALK rearrangement showed 171 and 729 reads for 5\' and 3\' ALK regions, respectively, demonstrating a clearly unbalanced expression pattern. \"    ///    Sensitive and specific detection of EML4-ALK rearrangements in non-small cell lung cancer (NSCLC) specimens by multiplex amplicon RNA massive parallel sequencing.. '), ('5610', 'MLL_AF10', '', 'MLL', 'AF10', '12859878', '42', 'leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Of the 191 leukemic samples, 86 (45.0%) carried 14 types of fusion genes including SIL/TAL1, MLL/AF1q, E2A/PBX1, MLL/AF6, AML1/ETO, MLL/AF9, TEL/ABL, BCR/ABL, MLL/AF10, dupMLL, MLL/ENL, TEL/AML1, PML/RARalpha and CBFbeta/MYH11. '), ('5611', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '18455790', '42', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'BCR-ABL, ETV6-RUNX1 and E2A-PBX1: prevalence of the most common acute lymphoblastic leukemia fusion genes in Mexican patients..     ///    \"With regards to the immunophenotype, ETV6-RUNX1 was expressed in both pre-B and T-cell cases, while the presence of E2A-PBX1 and BCR-ABL was associated with the pre-B ALL phenotype. \"    ///    \"The ETV6-RUNX1 fusion was found in 7 cases (13.5%), BCR-ABL fusion was detected in 2 cases (3.8%), and 6 patients (11.5%) expressed the chimeric gene E2A-PBX1. \"'), ('5612', 'SYT_SSX', '', 'SYT', 'SSX', '22971806', '42', 'chondrosarcoma;synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The SYT-SSX (synaptotagmin- synovial sarcoma X) fusion gene was detected employing RT-PCR, based on which primary synovial sarcoma of the lung was diagnosed. '), ('5613', 'SYT_SSX', '', 'SYT', 'SSX', '15735574', '42', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' Synovial sarcomas comprise up to 10 percent of malignant soft tissue tumors, and most are characterized by the chromosomal translocation t(X;18) (pl 1.2;q11.2), which results in the expression of SYT-SSX fusion transcripts.     ///    \"Moreover, we observed a correlation between histological subtype and type of SYT-SSX fusion transcript. \"    ///    \"We also developed a method useful for RT-PCR SYT-SSX fusion transcript detection in formalin-fixed, paraffin-embedded tissue. \"    ///    We found that both histological subtypes of synovial sarcoma were SYT-SSX positive. '), ('5614', 'RARA_PL', '', 'RARA', 'PL', '21840703', '42', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', ' In this study, an enzyme-amplified electrochemical biosensor was developed for detection of the promyelocytic leukemia/retinoic acid receptor alpha (PML/RAR?) fusion gene in acute promyelocytic leukemia (APL). '), ('5615', 'TEL_AML1', '', 'TEL', 'AML1', '12859878', '42', 'leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Of the 191 leukemic samples, 86 (45.0%) carried 14 types of fusion genes including SIL/TAL1, MLL/AF1q, E2A/PBX1, MLL/AF6, AML1/ETO, MLL/AF9, TEL/ABL, BCR/ABL, MLL/AF10, dupMLL, MLL/ENL, TEL/AML1, PML/RARalpha and CBFbeta/MYH11. '), ('5616', 'IGH_BCL2', 't(14;18) / t(14;18)  / ', 'IGH', 'BCL2', '18636259', '42', 'follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Commercial LightCycler-based quantitative real-time PCR compared to nested PCR for monitoring of Bcl-2/IgH rearrangement in patients with follicular lymphoma..     ///    \"In 42% of samples, the bcl2-IgH rearrangement was detectable by nested PCR, but not by LightCycler PCR. \"'), ('5617', 'TPM3_ALK', 'p23;q35 / t(2;5)  / ', 'TPM3', 'ALK', '10994999', '41', 'anaplastic large cell lymphoma;non Hodgkin lymphoma;B cell lymphoma;lymphoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'in some instances, the breakpoints have been cloned and the genes forming a new fusion gene with ALK have been identified: ATIC-ALK, TFG-ALK and TPM3-ALK. '), ('5618', 'MECT1_MAML2', '', 'MECT1', 'MAML2', '20588178', '41', 'oncocytoma;warthin tumor', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'We analyzed 55 salivary MEC and 36 potential MEC mimics (24 Warthin tumors, 5 oncocytomas, 3 squamous cell carcinomas, 2 squamoid salivary duct carcinomas, 1 lymphoepithelial cyst, 1 Schneiderian carcinoma ex papilloma) for presence of the MECT1/MAML2 translocation by fluorescent in-situ hybridization (FISH) and real-time RT-PCR.     ///    \"Overall, MECT1/MAML2 translocation was present in 36/55 (66%) of MEC whereas all 36 non-MEC were negative for translocation.\"    ///    The MECT1/MAML2 translocation is identified in a large proportion of mucoepidermoid carcinomas (MEC) of the salivary gland and is an emerging favorable prognosticator.    ///    \"Thus, MECT1/MAML2 translocation is highly specific for MEC and imparts a better prognosis. \"    ///    We present our experience with the MECT1/MAML2 translocation in a large cohort of MECs to address these issues.     ///    \"Overall, MECT1/MAML2 translocation was present in 36/55 (66%) of MEC whereas all 36 non-MEC were negative for translocation. \"    ///    A reappraisal of the MECT1/MAML2 translocation in salivary mucoepidermoid carcinomas..     ///    \"Within high-grade MEC, MECT1/MAML2 positive tumors had lower rates of anaplasia (P=0.001), and mitotic counts (P=0.012). \"'), ('5619', 'RUNX1_ETV6', 't(12;21) / ', 'RUNX1', 'ETV6', '16627248', '41', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'In this study we compared MRD by quantification of Ig/TCR targets and genomic ETV6-RUNX1 specific sequences. '), ('5620', 'ATIC_ALK', 'p23;q35 / t(2;5)  / ', 'ATIC', 'ALK', '10994999', '41', 'anaplastic large cell lymphoma;non Hodgkin lymphoma;B cell lymphoma;lymphoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'in some instances, the breakpoints have been cloned and the genes forming a new fusion gene with ALK have been identified: ATIC-ALK, TFG-ALK and TPM3-ALK. '), ('5621', 'TFE3_ASPL', 'p11.2;q21 / p11.2;q25 / ', 'TFE3', 'ASPL', '12459622', '41', 'renal cell carcinoma\r\r', '', '', '', '', '', '', '', '', 'The differential diagnosis includes conventional-type papillary renal cell carcinoma, conventional-type (clear cell) renal carcinoma, and the ASPL-TFE3 renal carcinomas associated with the t(X;17)(p11.2;q25), with the latter two being morphologically the most similar to the t(X;1) renal carcinomas. '), ('5622', 'SYT_SSX2', '', 'SYT', 'SSX2', '10446966', '41', 'synovial sarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', 'On the other hand, no association was found between the IGF-1R and type of fusion gene transcript (SYT-SSX1 or SYT-SSX2). '), ('5623', 'TEL_AML1', '', 'TEL', 'AML1', '16209886', '41', '', 'PCR', '', '', '', '', '', '', '', 'The RNAs extracted by the different methods were assessed for quantity, quality and detection of control genes (GUS and ABL) and fusion gene transcripts BCR-ABL and TEL-AML1 by RQ-PCR. '), ('5624', 'NUT_BRD4', '', 'NUT', 'BRD4', '26551281', '41', 'proptosis', '', 'Kinase', '', '', '', '', 'KB', '', 'Inhibition of the canonical 3\' acceptor splice site of NUT intron 1 in cell lines expressing the most common NMC fusion transcripts (PER-403, BRD4-NUT ex11:ex2.     ///    \"Molecular analysis of the tumor tissue identified a novel in-frame BRD4-NUT transcript, with BRD4 exon 15 fused to the last 124 nucleotides of NUT exon 2 (BRD4-NUT ex15:ex2?nt1-585). \"    ///    Detection of low levels of an in-frame BRD4-NUT ex11:ex2?nt1-585 transcript in PER-403 confirmed endogenous splicing from this alternative exon 2 splice site.     ///    \"PER-624, BRD4-NUT ex15:ex2) induced alternative splicing from the same cryptic splice site as identified in the patient. \"    ///    A novel BRD4-NUT fusion in an undifferentiated sinonasal tumor highlights alternative splicing as a contributing oncogenic factor in NUT midline carcinoma.. '), ('5625', 'ETO_AML1', '', 'ETO', 'AML1', '18788621', '41', 'leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Different levels of transcription of corresponding fusion genes are found in various subtypes of leukemias at diagnosis, among which the level of AML1-ETO was higher and PML-RAR alpha lower..     ///    \"In absolute quantity, expression level of the fusion transcripts in various leukemias was b3a2 (b2a2) 47614.63, e1a2 98847.53, AML1-ETO 300029.51, PML-RAR alpha 25506.28, respectively, while in relative quantity to abl, the levels were 1.05, 0.91, 5.33 and 0.55, respectively. \"'), ('5626', 'RARA_PML', '', 'RARA', 'PML', '21344764', '41', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'To perform quantitative RT-PCR and RQ-PCR reactions 4 fusion gene transcripts (AML1-ETO, CBFb-MYH11, PML-RARA /subtype bcrl and bcr3/) were used according to the protocol established by Europe Against Cancer Program.     ///    \"PML-RARA (subtype bcr3) and CBFB-MYH11 gene transcripts were detected in 3 (4%) and 3 (4%) patients, respectively. \"'), ('5627', 'RARA_PL', '', 'RARA', 'PL', '12801531', '41', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'Reverse transcription-polymerase chain reaction (RT-PCR) analysis of the bone marrow cells at diagnosis showed strong expression of BMP-2, -4, and -7, and their receptors RIA, RIB, and RII, parallel to the expression of promyelocytic leukemia/retinoic acid receptor alpha (PML/RARalpha) fusion gene transcripts. '), ('5628', 'NUP98_HOXA', '', 'NUP98', 'HOXA', '15748441', '41', 'leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' To investigate whether there are NUP98-HOXA, NUP98-HOXB, NUP98-HOXC, NUP98-HOXD fusion genes in leukemia patients in Xinjiang, cellular total RNA was extracted from the bone marrow mononuclear cells, the formaldehyde-agarose gel electrophoresis was used to judge whether RNA was intact, the 17 RT-PCR primers were designed to amplify the predicted fusion junctions and 412 bp GAPDH was used as an internal control, NUP98-HOXA fusion genes were amplified by nested-PCR following reverse transcription. '), ('5629', 'EML4_ALK', '', 'EML4', 'ALK', '23226067', '40', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'More recently, the presence of a fusion gene, echinoderm microtubule-associated protein-like 4 - anaplastic lymphoma kinase (EML4-ALK), was identified as the driver mutation in yet another subgroup of patients, and subsequent studies have led to approval of crizotinib in this group of patients.    ///    \"More recently, the presence of a fusion gene, echinoderm microtubule-associated protein-like 4 - anaplastic lymphoma kinase (EML4-ALK), was identified as the driver mutation in yet another subgroup of patients, and subsequent studies have led to approval of crizotinib in this group of patients. \"    ///    \"In this article, efforts in personalizing delivery of care based on the histological subtypes of lung cancer and the role of K-RAS and EGFR mutations, EML4/ALK translocation, and ERCC1 (excision repair cross-complementing 1) and EGFR expression in choosing appropriate treatments for patients with advanced lung cancer are discussed. \"'), ('5630', 'RARA_PLZF', '', 'RARA', 'PLZF', '17286448', '40', 'acute myeloid leukemia;chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'A total of 23 sets of oligomers were fabricated on glass slides for the detection of normal and fusion genes, as follows: BCR/ABL, AML/EAP, AML/ETO, AML/MDS, PML/RARA, NUMA1/RARA, PLZF/RARA, and CBFB/MYH. '), ('5631', 'MYH_CBFB', '', 'MYH', 'CBFB', '17286448', '40', 'acute myeloid leukemia;chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'A total of 23 sets of oligomers were fabricated on glass slides for the detection of normal and fusion genes, as follows: BCR/ABL, AML/EAP, AML/ETO, AML/MDS, PML/RARA, NUMA1/RARA, PLZF/RARA, and CBFB/MYH. '), ('5632', 'RARA_NUMA1', '', 'RARA', 'NUMA1', '17286448', '40', 'acute myeloid leukemia;chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', '', 'A total of 23 sets of oligomers were fabricated on glass slides for the detection of normal and fusion genes, as follows: BCR/ABL, AML/EAP, AML/ETO, AML/MDS, PML/RARA, NUMA1/RARA, PLZF/RARA, and CBFB/MYH. '), ('5633', 'ETO_AML1', 't(8;21)(q22;22) / inv(16)(p13q22) / t(8;21)  / inv(16)  / t(16;16)  / inv(16) / ', 'ETO', 'AML1', '11167739', '40', '', '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. '), ('5634', 'RARA_PML', '', 'RARA', 'PML', '17286448', '40', 'acute myeloid leukemia;chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'A total of 23 sets of oligomers were fabricated on glass slides for the detection of normal and fusion genes, as follows: BCR/ABL, AML/EAP, AML/ETO, AML/MDS, PML/RARA, NUMA1/RARA, PLZF/RARA, and CBFB/MYH. '), ('5635', 'ASPSCR1_TFE3', '', 'ASPSCR1', 'TFE3', '25453902', '40', 'alveolar soft part sarcoma', '', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'We proved the oncogenic capacity of this fusion gene by driving sarcomagenesis in mice from conditional ASPSCR1-TFE3 expression.'), ('5636', 'IGH_BCL2', 't(14;18)(q32;q21) / t(14;18) / ', 'IGH', 'BCL2', '11572760', '40', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Two 5\'-BCL2 / IGH and two 5\'-BCL2 / IGLkappa junctions occurred 5\' of the joining (J) segments, suggesting operation of an erroneous variable (V) / diversity (D) / J and V / J rearrangement mechanism.     ///    \"However, two other 5\'-BCL2 / IGH junctions affected switch regions, and the kappa-deleting element, which is located 24 kb downstream of the constant region of IGLkappa, followed the 5\'-BCL2 in another case. \"'), ('5637', 'OTT_MAL', 't(5;14)  / ', 'OTT', 'MAL', '12094248', '40', 'T ALL;leukemia\r\r', '', '', '', '', '', '', '', '', 'and AML with AML1/ETO, PML/RARalpha, OTT/MAL and CBFbeta/MYH11 translocations, trisomies 8 or 11 and aberrations of chromosomes 7 and 5. '), ('5638', 'EWSR1_CREB3L1', '', 'EWSR1', 'CREB3L1', '21987447', '40', 'osteosarcoma', 'PCR;ISH', '', '', '', '', '', '', '', 'Rapid amplification of cDNA ends revealed exon 6 of the cAMP-responsive element binding protein 3-like 1 gene (CREB3L1, also known as \"OASIS,\" NM_52854.2) fused in-frame to the EWSR1 exon 11, consistent with the EWSR1-CREB3L1 fusion transcript expressed in tumor tissue.     ///    A novel EWSR1-CREB3L1 fusion transcript in a case of small cell osteosarcoma..     ///    \"The 3\'-end partner and the inferred structure of EWSR1-CREB3L1, however, are different from those of Ewing sarcoma, suggesting different targets of the new oncogene.. \"    ///    \"Immunohistochemistry with the same antibody showed signal translocation from the physiologic perinuclear compartment observed in glia and unrelated osteoblasts to nuclei of tumor cells, consistent with the likely function of EWSR1-CREB3L1 as a transcriptional regulator predicted by its structure. \"'), ('5639', 'TEL_AML1', '', 'TEL', 'AML1', '25861237', '40', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Among the remaining 22 cases, 8 had TEL-AML1 (20%), 6 had BCR-ABL (15%), 4 had MLL-AF4 (10%), 2 had E2A-PBX1 (5%) fusion genes, and 2 had hyperdiploidy. '), ('5640', 'PAX3_FOXO1', '', 'PAX3', 'FOXO1', '23432728', '40', 'rhabdomyosarcoma;sarcoma\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'The PAX3-FOXO1 oncoprotein in alveolar rhabdomyosarcoma (ARMS) is presented as a paradigm to examine therapeutic strategies for targeting sarcoma-associated fusion genes.     ///    This review discusses the role of PAX3-FOXO1 in ARMS tumors.     ///    \"Besides evaluating various approaches to molecularly target PAX3-FOXO1 itself, this review highlights therapeutically attractive downstream genes activated by PAX3-FOXO1. \"    ///    A call to ARMS: targeting the PAX3-FOXO1 gene in alveolar rhabdomyosarcoma.. '), ('5641', 'HOX_NUP98', '', 'HOX', 'NUP98', '24090997', '40', '', '', '', '', '', '', '', '', '', 'We created transgenic animal models for three NUP98 fusion genes (one homeobox, two non-homeobox), and show that in this system, the NUP98-homeobox fusion promotes self-renewal and aberrant gene expression to a significantly greater extent. '), ('5642', 'SYT_SSX', '', 'SYT', 'SSX', '15257548', '40', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'We reviewed 11 cases of pulmonary SS (PSS) confirmed by the presence of a tumor-specific SYT-SSX fusion gene to verify their clinicopathologic features including immunohistochemical and genetical profiles. '), ('5643', 'BCR_ABL1', 't(9;22)(q34;q11) / ', 'BCR', 'ABL1', '1931706', '40', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'It is now known that as a result of the Ph translocation, p160BCR and p145ABL (the normal BCR and ABL gene products) are replaced by p210BCR-ABL. '), ('5644', 'TEL_AML1', 't(2;21)(q11;q22) / t(2;11)(q11;q23) / t(4;21)(q28;q22) / ', 'TEL', 'AML1', '17968322', '40', 'T ALL;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'Almost all AML1 translocations except for TEL-AML1 are associated with myeloid leukemia. '), ('5645', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '1375840', '40', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'A PML/retinoic acid receptor alpha fusion transcript is constantly detected by RNA-based polymerase chain reaction in acute promyelocytic leukemia.. '), ('5646', 'BCR_ABL1', 't(9;22)  / ', 'BCR', 'ABL1', '12716364', '40', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Reports of physical separation of ABL-BCR in non-deleted patients, as well as evolution from classical to variant Ph, introduce further heterogeneity to the vPh subgroup and raise the possibility that such translocations may herald disease progression.     ///    \"We assessed the frequency of der(9) deletions, ABL-BCR abrogation, cytogenetic evolution and cryptic rearrangement in a large cohort of 54 patients with vPh CML. \"    ///    The components of ABL-BCR were physically separated in a further 52% of patients while fused in the remaining 11%.     ///    \"Deletion encompassing the reciprocal product (ABL-BCR) from the derivative chromosome 9 [der(9)] occurs in 15% of all patients, but with greater frequency in vPh patients. \"    ///    \"Deletions encompassing ABL-BCR were detected in 37% of patients, consistent with a model in which a greater number of chromosome breaks increases the risk of genomic loss. \"'), ('5647', 'TFE3_ASPL', '', 'TFE3', 'ASPL', '23871289', '40', 'alveolar soft part sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'mTORC1 activity seems to be related to the existence of ASPL-TFE3 fusion transcripts because TFE3-immunoreactive non-ASPS without ASPL-TFE3 fusion transcripts exhibit significantly lower mTORC1 activation status. '), ('5648', 'EWS_ERG', '', 'EWS', 'ERG', '16834905', '40', 'neuroectodermal tumor;ewing sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'EWS-ERG fusion transcript was not detected in any of the cases. '), ('5649', 'TCF12_CHN', 't(9;22)(q22;q12) / t(9;17)(q22;q11) / t(9;15)(q22;q21) / ', 'TCF12', 'CHN', '15187889', '40', 'chondrosarcoma', '', '', '', '', '', 'Transcription_Factor', '', '', 'In each of these translocations, the CHN gene is involved, resulting in the chimeric fusion genes EWS/CHN, RBP56/CHN, and TCF12/CHN, respectively. '), ('5650', 'ETO_AML1', 't(5;14)  / ', 'ETO', 'AML1', '12094248', '40', 'T ALL;leukemia\r\r', '', '', '', '', '', '', '', '', 'and AML with AML1/ETO, PML/RARalpha, OTT/MAL and CBFbeta/MYH11 translocations, trisomies 8 or 11 and aberrations of chromosomes 7 and 5. '), ('5651', 'NPM_ALK', '', 'NPM', 'ALK', '11561161', '40', 'anaplastic large cell lymphoma;rhabdomyosarcoma;neuroblastoma;sarcoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The immunocytochemical detection of NPM-ALK (and proteins encoded by other ALK fusion genes) has allowed the definition of a tumor entity, \"ALK-positive lymphoma\" (which shows only partial overlap with pathologists\' diagnosis of ALCL), to be defined and is invaluable in distinguishing this disease from ALK-negative large cell lymphomas.     ///    \"Biochemical studies suggest an anti-apoptotic function of NPM-ALK, and this may contribute to oncogenesis. \"'), ('5652', 'RARA_PML', 't(15;17)  / t(15;17)(q22;q12-q21) / ', 'RARA', 'PML', '8142621', '39', '', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Both reciprocal fusion products which arise as a result of the translocation, PML/RAR alpha and RAR alpha/PML, are expressed in many patients.     ///    \"PML/RAR alpha, is implicated in leukaemogenesis, and may block myeloid differentiation directly and/or interfere with the normal function(s) of PML and/or RAR alpha.. \"'), ('5653', 'K19_CAT', '', 'K19', 'CAT', '7506253', '39', '', '', '', '', '', '', '', '', '', 'A high level of K19/CAT fusion mRNA was detected when this K19 3\' enhancer sequence was present at the 3\' end of the fusion gene whereas no K19/CAT fusion transcript was detected if this 3\' K19 enhancer sequence was absent, suggesting that the 3\' K19 enhancer is crucial for the positive regulation of K19 expression.     ///    Co-transfections of a c-jun expression vector with K19/CAT reporter constructs demonstrated that c-jun was able to activate the K19 promoter via the 3\' K19 enhancer.     ///    \"Through transient transfection assays with various K19/CAT constructs that contain different portions of K19 genomic DNA, an enhancer sequence has been identified in the K19 3\'-flanking region. \"'), ('5654', 'ETO_CBFA2', 't(8;21) / ', 'ETO', 'CBFA2', '11753612', '39', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' T(8;21) AML1(CBFA2)-ETO(MTG8) is the most common chromosomal translocation in acute myeloid leukemia (AML) in both children and adults.     ///    All patients with available RNA expressed an AML1-ETO mRNA fusion between exon 5 of AML1 and exon 2 of ETO.     ///    Molecular characterization of genomic AML1-ETO fusions in childhood leukemia..     ///    \"Since the structural restraints for the fusion protein of AML1-ETO exclude exon 1A, we reason that ETO intron 1B harbors a structural feature with propensity for breakage and/or recombination. \"'), ('5655', 'BCR_ABL1', '', 'BCR', 'ABL1', '21637474', '39', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In this study we report the frequencies of BCR-ABL1 fusion transcript variants studied in 43 CML patients from Sudan.     ///    Frequencies of BCR-ABL1 fusion transcripts among Sudanese chronic myeloid leukaemia patients..     ///    \"The study includes 46 Sudanese patients, three of which negative for the BCR-ABL1 fusion transcript. \"    ///    \"In conclusion, we observed a significant correlation between sex and type of BCR-ABL1 transcript, an observation that deserves further investigation.. \"'), ('5656', 'TEL_AML1', 't(8;21) / ', 'TEL', 'AML1', '11753612', '39', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Breakpoints in general displayed similar complexity of duplications, deletions, and insertions to other common pediatric leukemia translocations (TEL-AML1, MLL-AF4, PML-RARA, CBFB-MYH11) that we and others have analyzed.. '), ('5657', 'WIF1_HMGA2', '', 'WIF1', 'HMGA2', '17171686', '39', 'pleomorphic adenoma\r\r', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'However, in the pleomorphic adenoma expressing the HMGA2/WIF1 fusion transcript, we observed re-expression of HMGA2 wild-type transcripts and very low levels of WIF1 expression.     ///    \"However, in the pleomorphic adenoma expressing the HMGA2/WIF1 fusion transcript, we observed re-expression of HMGA2 wild-type transcripts and very low levels of WIF1 expression.\"'), ('5658', 'MBR_BCL2', 't(14;18)(q32;q21) / t(14;18)  / ', 'MBR', 'BCL2', '8713288', '39', 'diffuse large cell lymphoma;non Hodgkin Lymphoma', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Environmental factors may regulate BCL2 associated lymphomagenesis: a very low incidence of BCL2-MBR translocation in Poland.. '), ('5659', 'PBX1_E2A', 't(1;19)  / t(1;19) / ', 'PBX1', 'E2A', '1348433', '39', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'and immunoblotting with anti-Pbx1 antibodies was used to detect hybrid E2A-Pbx1 proteins. '), ('5660', 'MYH11_CBFB', 't(8;21) / ', 'MYH11', 'CBFB', '11753612', '39', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Breakpoints in general displayed similar complexity of duplications, deletions, and insertions to other common pediatric leukemia translocations (TEL-AML1, MLL-AF4, PML-RARA, CBFB-MYH11) that we and others have analyzed.. '), ('5661', 'RARA_PML', 't(8;21) / ', 'RARA', 'PML', '11753612', '39', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Breakpoints in general displayed similar complexity of duplications, deletions, and insertions to other common pediatric leukemia translocations (TEL-AML1, MLL-AF4, PML-RARA, CBFB-MYH11) that we and others have analyzed.. '), ('5662', 'EML4_ALK', '', 'EML4', 'ALK', '18414414', '39', 'non small cell lung cancer;breast cancer;lung ca\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Our data suggest that the EML4-ALK fusion transcript is not present in gastrointestinal or breast cancers and is specific to NSCLC..     ///    \"Only one of the lung cancer samples tested positive for the EML4-ALK fusion transcript, whereas none were detected in 555 gastrointestinal and 90 breast cancer cases. \"    ///    EML4-ALK fusion transcript is not found in gastrointestinal and breast cancers..     ///    We evaluated the expression of the EML4-ALK transcript in 104 lung cancer cases and in 645 gastrointestinal and breast cancer samples.     ///    The EML4-ALK (EML4: echinoderm microtubule-associated-protein-like 4. '), ('5663', 'SYT_SSX2', '', 'SYT', 'SSX2', '15879502', '39', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In our review of primary pulmonary synovial sarcomas confirmed by molecular detection of SYT-SSX fusion gene transcripts, the SYT-SSX2 fusion protein expression correlates with poorer prognosis. '), ('5664', 'TEL_AML1', 't(12;3;21)  / ', 'TEL', 'AML1', '10992297', '39', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' TEL-AML1 fusions are the most common chromosome translocations in childhood leukemia and often, if not always, occur in utero.     ///    \"We now report data on sequencing and mapping of TEL-AML1 from an additional 11 patients and, using Monte Carlo statistical methods, have analyzed the intronic distribution of the 24 TEL-AML1 fusion junctions sequenced to date. \"    ///    Microclustering of TEL-AML1 translocation breakpoints in childhood acute lymphoblastic leukemia..     ///    We previously reported the genomic sequencing of nine TEL-AML1 translocations and showed unique structural features of a breakpoint cluster region in TEL intron 5.     ///    TEL-AML1 breakpoints may be distributed into microclusters because of specific DNA sequence or chromatin features in susceptible cells. '), ('5665', 'CALM_AF10', '', 'CALM', 'AF10', '18245528', '39', 'lymphoma\r\r', '', '', '', '', '', '', '', '', 'All Int-LBL expressed HOX11/TLX1 or HOXA9 transcripts and a proportion of the latter were associated with CALM-AF10 or NUP214-ABL fusion transcripts. '), ('5666', 'RET_CCDC6', '', 'RET', 'CCDC6', '21305644', '39', 'thyloid cancer;leukemia;breast cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Two additional fusion genes, BCAS4-BCAS3 in the MCF-7 breast cancer cell line and CCDC6-RET in the TPC-1 thyroid cancer cell line were validated as true positive fusion transcripts. '), ('5667', 'TCL1_MTCP1', 't(14;14)(q11;q32) / ', 'TCL1', 'MTCP1', '10344735', '39', 'leukemia;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Because of its location and sequence similarity with TCL1 and MTCP1 oncoproteins, this gene, named TML1 (TCL1/MTCP1-like 1) is a candidate gene that is potentially involved in leukemogenesis.. '), ('5668', 'BCR_ABL1', '', 'BCR', 'ABL1', '26856288', '39', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Abnormal genes detected were BCR/ABL1 major transcript in 5 (12.5%), ETV6/RUNX1 in 2 (5.0%), MLL/AF4 none and none of the patients had more than one fusion gene.     ///    \"Presence of fusion the genes BCR/ABL1, ETV6/RUNX1, and MLL/AF4 does not have any impact on the clinical and laboratory features of ALL at presentation.. \"'), ('5669', 'NUP214_ABL1', '', 'NUP214', 'ABL1', '18245528', '39', 'lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'All Int-LBL expressed HOX11/TLX1 or HOXA9 transcripts and a proportion of the latter were associated with CALM-AF10 or NUP214-ABL fusion transcripts. '), ('5670', 'BCR_ABL1', '', 'BCR', 'ABL1', '22300134', '39', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'BCR/ABL1 fusion transcripts generated from alternative splicing: implications for future targeted therapies in Ph+ leukaemias..     ///    In this review we discuss the importance of recent advances based on the discovery of novel BCR/ABL1 variants and their potential role as new targets/biomarkers of Ph+ leukaemias in the light of the current therapeutic trends.     ///    \" Philadelphia (Ph+) positive leukaemias are an example of haematological malignant diseases where different chromosomal rearrangements involving both BCR and ABL1 genes generate a variety of chimeric proteins (BCR/ABL1 p210, p190 and p230) which are considered pathological \"\"biomarkers\"\". \"'), ('5671', 'MECT1_MAML2', '', 'MECT1', 'MAML2', '25123064', '39', 'odontogenic cysts', '', '', '', '', '', '', '', '', 'MECT1-MAML2 fusion transcripts have been identified in >66% of salivary gland MEC cases. '), ('5672', 'Immunoglobulin _BCL2', 't(2;18)(p11;q21) / t(18;22)(q21;q11) / t(18;22)  / t(2;18) / ', 'Immunoglobulin ', 'BCL2', '1549371', '39', 'chronic lymphocytic leukemia;leukemia;follicular lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The results presented here indicate that the bcl-2/immunoglobulin light-chain (IgL) gene juxtaposition seen in a fraction of CLL is the result of cytogenetically detectable reciprocal chromosome translocations 2;18 and 18;22.. '), ('5673', 'INTS3_CHTOP', 't(1;6) / t(1;7)(q10;p10) / del(20) / 20p12.1 / ', 'INTS3', 'CHTOP', '23733509', '39', 'myelofibrosis\r\r', 'PCR', '', '', '', '', '', '', 'Seq', 'A novel fusion transcript was found in one of the study patients (INTS3-CHTOP), and also in an additional non-study patient with PMF. '), ('5674', 'RET_PTC', '', 'RET', 'PTC', '9814501', '39', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Distinct multiple RET/PTC gene rearrangements in multifocal papillary thyroid neoplasia..     ///    \"Multifocal disease, identified in 17 of the 21 patients, exhibited identical RET/PTC rearrangements within multiple tumors in only 2 patients. \"    ///    \"In clinically evident tumors, 47% had RET/PTC rearrangements. \"    ///    \"Of the 30 tumors (77%) positive for RET/PTC rearrangements, 12 were positive for RET/PTC-1, 3 for RET/ PTC-2, 6 for RET/PTC-3, and 9 for multiple RET/PTC oncogenes. \"    ///    \"Our results indicate that RET/PTC oncogene rearrangements may play a role in early-stage papillary thyroid carcinogenesis, but they seem to be less important in determining progression to clinically-evident disease. \"    ///    \"PCR products were resolved by gel electrophoresis, and Southern hybridization was performed with RET/PTC-1, -2, and -3 probes. \"    ///    developed PC and to examine the diversity of RET/PTC in multifocal disease.     ///    \"In multifocal disease, the diversity of RET/PTC profiles, in the majority of cases, suggests that individual tumors arise independently in a background of genetic or environmental susceptibility.. \"    ///    \"RT and PCR was performed using primers for RET/PTC-1, -2, and -3. \"    ///    RET/PTC expression is highly prevalent in microcarcinoma and occurs more frequently than in clinically evident PC (P < 0.005).     ///    \"We examined the expression of RET/PTC-1, -2, and -3 in human thyroid microcarcinomas and clinically evident PC to determine its role in early stage vs. \"    ///    \"Transgenic mice, expressing thyroid-targeted RET/PTC-1, develop PC. \"'), ('5675', 'P22_P15', 't(3;5) / 3p22.3 / 5p15.1 / ', 'P22', 'P15', '18385787', '39', 'cataracts\r\r', '', '', '', '', '', '', '', '', 'p15.1)] while the unbalanced translocation product, 46,XY,-5,+der(5)t(3:5)(p22:p15.1), had multiple congenital anomalies without cataracts. '), ('5676', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '22695242', '39', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'The potential for using urine measurements such as prostate cancer antigen 3 (PCA3) RNA and the transmembrane protease, serine 2 v-ets erythroblastosis virus E26 oncogene homolog (avian) (TMPRSS2-ERG) gene fusion to aid screening is discussed. '), ('5677', 'MTM1_MAMLD1', '', 'MTM1', 'MAMLD1', '22968136', '39', 'congenital structural myopathy', '', '', '', '', '', '', '', '', 'Results obtained with a next generation sequencing approach suggested that the duplication extends into the neighboring MAMLD1 gene and subsequent cDNA analysis detected the presence of a MTM1/MAMLD1 fusion transcript. '), ('5678', 'STAT5B_RARA', '', 'STAT5B', 'RARA', '18221386', '39', 'acute promyelocytic leukemia;leukemia;disseminated intravascular coagulation\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'We report a rare case of APL with STAT5B-RARA fusion transcript and the normal chromosome 17 on G-banding.     ///    Detection of the STAT5B-RARA fusion transcript in acute promyelocytic leukemia with the normal chromosome 17 on G-banding..     ///    Clinical characteristics of APL with STAT5B-RARA are also discussed.. '), ('5679', 'EML4_ALK', '', 'EML4', 'ALK', '26505450', '39', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Echinoderm microtubule associated protein like 4-anaplastic lymphoma kinase (EML4-ALK) gene rearrangements and epidermal growth factor receptor (EGFR) mutations in non-small cell lung cancer (NSCLC) have been intensively studied. '), ('5680', 'TACSTD1_MSH2', '', 'TACSTD1', 'MSH2', '19177550', '39', 'colorectal cancer\r\r', '', '', '', '', '', '', '', '', 'We show that these deletions, by removing the transcriptional termination sequences of the upstream gene, give rise to multiple TACSTD1/MSH2 fusion transcripts. '), ('5681', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '20477604', '39', 'hypereosinophilic syndrome', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'A subgroup of patients with the myeloproliferative variant carry the new gene rearrangement FIP1L1-PDGFRA, which produces a constitutively active tyrosine kinase often responsive to antityrosine kinase therapy with imatinib mesylate. '), ('5682', 'RARA_PML', 't(15;17)  / t(15;17)(q21;q22) / ', 'RARA', 'PML', '1339190', '39', '', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The PML-RARA chimaeric protein is presumably the target during the striking differentiation therapy achieved with all-trans retinoic acid.     ///    \"Intriguingly, some APLs not only express the PML-RARA fusion protein but also the reciprocal RARA-PML fusion protein, although the contribution of this product is unclear. \"'), ('5683', 'MYST3_CREBBP', 't(8;16)(p11;p13) / t(8;16)  / ', 'MYST3', 'CREBBP', '23022987', '39', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', '', 'Acute myeloid leukemia with translocation (8;16)(p11;p13) and MYST3-CREBBP rearrangement harbors a distinctive microRNA signature targeting RET proto-oncogene.. '), ('5684', 'MUM1_IRF4', 't(6;14) / p25;q32 / ', 'MUM1', 'IRF4', '9326949', '39', 'multiple myeloma\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Deregulation of MUM1/IRF4 by chromosomal translocation in multiple myeloma..     ///    \"As a result, the MUM1/IRF4 gene is overexpressed--an event that may contribute to tumorigenesis, a MUM1/IRF4 has oncogenic activity in vitro. \"'), ('5685', 'TFE3_ASPSCR1', '', 'TFE3', 'ASPSCR1', '21074195', '39', 'renal cell carcinoma\r\r', '', '', 'Oncogene', '', '', '', 'KB', '', 'ASPSCR1-TFE3 might be the most aggressive among the transcription factor E3 fusion genes..     ///    Distant metastasis developed in the 2 patients with ASPSCR1-TFE3 fusion vs 1 of 11 with other fusion genes. '), ('5686', 'PLZF_MLL', 't(11;17)  / ', 'PLZF', 'MLL', '10500192', '39', 'acute promyelocytic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The presence of two MLL/PLZF-like alignments on human chromosome 11q23 and 19 suggests a syntenic replication during evolution. '), ('5687', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '21383613', '39', 'prostatic intraepithelial neoplasia\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2:ERG gene rearrangement is the most common chromosomal alteration and is highly specific for PCa.     ///    \"Recently, 2 studies reported that positive immunohistochemical (IHC) stains with an ERG antibody highly correlated with the TMPRSS2:ERG gene rearrangement status. \"'), ('5688', 'MPFYVE_MLL', 't(11;15)  / t(11;15)(q23;q14) / t(11;15) / ', 'MPFYVE', 'MLL', '12618766', '38', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Both MLL-AF15q14 and MLL-MPFYVE are in-frame fusion transcripts with the potential to code for novel fusion proteins.     ///    The MLL-MPFYVE fusion may be functionally important in the leukemia process in at least some patients containing this translocation.. '), ('5689', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '16681596', '38', 'dermatofibrosarcoma protuberans;sarcoma\r\r', '', '', 'Oncogene', '', '', '', 'KB', '', 'The COL1A1-PDGFB fusion transcripts were detected from the cultured tumour cells by reverse transcriptase polymerase chain reaction. '), ('5690', 'MLL_AF4', 't(4;11)  / t(4;11) / ', 'MLL', 'AF4', '11368362', '38', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'This insertion mechanism precludes the genomic recombination of AF4-MLL and supports the crucial role played by MLL-AF4 in leukemogenesis. '), ('5691', 'MLL_ENL', 't(4;11)(q21;q23) / t(6;11)(q27;q23) / t(9;11)(p21-22;q23) / t(10;11)(p11-13;q23) / t(11;19) / ', 'MLL', 'ENL', '11480574', '38', 'acute myeloid leukemia;myeloid leukemia;leukemia;hematologic malignancy\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'p13.3) [MLL/ENL] in cell lines, as well as in patient material.. '), ('5692', 'MALT1_API2', 't(11;18)(q21;q21) / t(11;18) / t(11;18)  / ', 'MALT1', 'API2', '15086412', '38', 'MALT lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'The translocation fuses the API2 gene to the MALT1 gene and generates a functional API2-MALT1 transcript.     ///    \"Comparative sequence analysis between the API2-MALT1 fusion on der(11) and the MALT1-API2 fusion on der(18) showed extensive alterations including deletions, duplications and non-template-based insertions at the fusion junctions in all cases examined. \"    ///    \"An extensive sequence search failed to reveal any known sequence motifs that might be associated with chromosomal recombination or any novel consensus sequences at or near the breakpoints on both der(11) and der(18) except in one case, in which Alu repeats spanned the breakpoint of the MALT1-API2 fusion. \"'), ('5693', 'WT1_EWS', '', 'WT1', 'EWS', '9646031', '38', 'desmoplastic small round cell tumor;ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'In one variant patient, the EWS-WT1 fusion transcript contained an in-frame junction of exon 9 of EWS to exon 8 of WT1. '), ('5694', 'BCR2_BCR1', 't(15;17)  / ', 'BCR2', 'BCR1', '11378661', '38', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'An incidence of about 40% of 5\' breaks and 60% of 3\' breaks, i.e., bcr3 and bcr1/bcr2, respectively, was observed.. '), ('5695', 'IGH_BCL2', '', 'IGH', 'BCL2', '16215945', '38', 'follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', '[BCL-2/IgH translocation in peripheral blood cells of healthy Chinese individuals of Han nationality located in Zhejiang area]..     ///    The low frequency of BCL-2/IgH translocation in healthy Chinese individuals of Han nationality located in Zhejiang area may be one of the reasons for the difference in the incidence of FL between China and Western countries..     ///    \"First, in this sample the frequency of BCL-2/IgH translocation in Chinese individuals of Han nationality located in Zhejiang area is 9.66%, being much lower than that in North America and Europe countries. \"    ///     To investigate the relationship between the frequency of BCL-2/IgH rearrangement in peripheral blood cells of healthy Chinese individuals of Han nationality located in Zhejiang area and the low incidence of follicular lymphoma (FL).     ///    Nested-PCR and direct DNA sequencing were used to detect the Bcl-2/IgH rearrangement in peripheral blood cells of 196 healthy individuals.     ///    \"Third, There are different subclones of BCL-2/IgH rearrangements in the same individual. \"'), ('5696', 'P84_PPP1R12C', '', 'P84', 'PPP1R12C', '19549848', '38', '', 'PCR', '', '', '', '', '', '', '', 'We harnessed this technology to induce chromosomal translocations in human cells by generating concurrent DSBs at 2 endogenous loci, the PPP1R12C/p84 gene on chromosome 19 and the IL2Rgamma gene on the X chromosome. '), ('5697', 'ETO_AML1', 't(8;21) / ', 'ETO', 'AML1', '9589800', '38', '', 'PCR', '', '', '', '', '', '', '', 'Comparison of two reverse transcription-polymerase chain reaction methods for detection of AML1/ETO rearrangement in the M2 subtype of acute myeloid leukaemia..     ///     Two reverse transcription-polymerase chain reaction methods to detect the AML1/ETO rearrangement in the M2 subtype of acute myeloid leukaemia those of Downing et al.     ///    The AML1/ETO rearrangement was observed in 5 of the 35 cases of acute myeloid leukaemia at diagnosis (14.3%) and in 3 of the 14 cases of M2 subtype of acute myeloid leukaemia (21.4%). '), ('5698', 'ABL1_BCR', '', 'ABL1', 'BCR', '23471097', '38', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Current guidelines for managing Philadelphia-positive chronic myeloid leukemia include monitoring the expression of the BCR-ABL1 (breakpoint cluster region/c-abl oncogene 1, non-receptor tyrosine kinase) fusion gene by quantitative reverse-transcription PCR (RT-qPCR).     ///    Our goal was to establish and validate reference panels to mitigate the interlaboratory imprecision of quantitative BCR-ABL1 measurements and to facilitate global standardization on the international scale (IS).     ///    Establishment and validation of analytical reference panels for the standardization of quantitative BCR-ABL1 measurements on the international scale..     ///    \"For most methods, percent ratios for BCR-ABL1 e13a2 and e14a2 relative to ABL1 or BCR were robust at 4 different levels and linear over 3 logarithms, from 10% to 0.01% on the IS. \"    ///    \"The synthetic calibrator panels are robust, reproducibly manufactured, analytically calibrated to the WHO primary standards, and compatible with most BCR-ABL1 RT-qPCR assay designs. \"    ///    \"The broad availability of secondary reference reagents will further facilitate interlaboratory comparative studies and independent quality assessment programs, which are of paramount importance for worldwide standardization of BCR-ABL1 monitoring results and the optimization of current and new therapeutic approaches for chronic myeloid leukemia.. \"');
INSERT INTO `ChimerPub_dump` VALUES ('5699', 'IGH_BCL2', 't(14;18)  / ', 'IGH', 'BCL2', '15850006', '38', 'follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Competitive PCR was performed with a multiple competitor carrying specific sequences including Bcl2/IgH MBR and mcr, and the beta-globin gene. '), ('5700', 'NKG2_CD94', '', 'NKG2', 'CD94', '14871289', '38', '', '', '', '', '', '', '', '', '', ' The genome of the cichlid (teleost) fish Oreochromis niloticus contains a set of genes which encode group V C-type lectin proteins homologous to the mammalian NKG2/CD94 family of natural killer (NK) cell receptors. '), ('5701', 'TLX1_LBX1', '', 'TLX1', 'LBX1', '20112453', '38', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'We demonstrate that tight linkages of Lbx1-Tlx1, Lbx2-Tlx2 and Nkx3.1-Nkx2.6 have been widely maintained in both the ray-finned and lobe-finned fish lineages.     ///    \"Finally, we show that Lbx1-Tlx1 and Hmx2-Hmx3 are flanked by highly conserved noncoding elements, suggesting that shared regulatory regions may have resulted in evolutionary pressure to maintain these linkages. \"    ///    \"Of these genes, only NKX2.6-NKX3.1, LBX1-TLX1 and LBX2-TLX2 remain tightly linked in humans. \"'), ('5702', 'TEL_AML1', '', 'TEL', 'AML1', '14670924', '38', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The data show that approximately 25% (6 of 25) of hyperdiploid ALL samples possess FLT3 mutations, whereas only 1 of 29 TEL/AML1-rearranged samples harbored mutations (P =.04, Fisher exact test). '), ('5703', 'ZNF611_IL1RAPL1', '', 'ZNF611', 'IL1RAPL1', '26290131', '38', '', '', '', '', '', '', '', '', '', 'While gene expression analysis showed absence of TSPAN7 and KIAA2022 expression in the patients, the unexpected expression of IL1RAPL1 suggested a fusion transcript ZNF611-IL1RAPL1 under the control of the ZNF611 promoter, gene disrupted at the autosomal breakpoint. '), ('5704', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '11697505', '38', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' The persistence of the AML1-ETO rearrangement performed by reverse transcription polymerase chain reaction (RT-PCR) has been reported in acute myeloid leukemia (AML) patients in long-term complete remission (CR).     ///    \"Here, we present a new quantitative real-time PCR method to detect AML1-ETO rearrangement using fluorescently labeled probes. \"    ///    Quantitative detection of AML1-ETO rearrangement by real-time RT-PCR using fluorescently labeled probes..     ///    Quantitative detection of AML1-ETO was performed in capillary tubes using two fluorescently labeled probes in the LightCycler equipment.     ///    The inter-assay coefficient of variation was 19% for AML1-ETO and 12% for AML.     ///    \"The intra-assay coefficient of variation was 4% for AML1-ETO, and 7% for AML. \"    ///    The regression coefficients obtained for standard curves of AML1-ETO and AML were all greater than 0.98.     ///    A log reduction from two to four in the AML1-ETO/AML ratio was evident after CR. '), ('5705', 'NKX3-1_NKX2-6', '', 'NKX3-1', 'NKX2-6', '20112453', '38', '', '', '', '', '', 'Receptor', 'Transcription_Factor', '', '', 'We demonstrate that tight linkages of Lbx1-Tlx1, Lbx2-Tlx2 and Nkx3.1-Nkx2.6 have been widely maintained in both the ray-finned and lobe-finned fish lineages.     ///    \"In contrast, Lbx2-Tlx2 and Nkx3.1-Nkx2.6, which do not seem to be coexpressed, are also not associated with conserved noncoding sequences, suggesting that an alternative mechanism may be responsible for the continued clustering of these genes.. \"    ///    \"Of these genes, only NKX2.6-NKX3.1, LBX1-TLX1 and LBX2-TLX2 remain tightly linked in humans. \"'), ('5706', 'TLX2_LBX2', '', 'TLX2', 'LBX2', '20112453', '38', '', '', '', '', '', '', '', '', '', 'We demonstrate that tight linkages of Lbx1-Tlx1, Lbx2-Tlx2 and Nkx3.1-Nkx2.6 have been widely maintained in both the ray-finned and lobe-finned fish lineages.     ///    \"In contrast, Lbx2-Tlx2 and Nkx3.1-Nkx2.6, which do not seem to be coexpressed, are also not associated with conserved noncoding sequences, suggesting that an alternative mechanism may be responsible for the continued clustering of these genes.. \"    ///    \"Of these genes, only NKX2.6-NKX3.1, LBX1-TLX1 and LBX2-TLX2 remain tightly linked in humans. \"'), ('5707', 'SYT_SSX1', '', 'SYT', 'SSX1', '16247461', '37', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'This translocation can generate a fusion transcript encoding SYT-SSX1, a transforming oncoprotein.     ///    We present evidence that SYT-SSX1 induces insulin-like growth factor II expression in fibroblast cells.     ///    IGF2 is critical for tumorigenesis by synovial sarcoma oncoprotein SYT-SSX1.. '), ('5708', 'FUS_CHOP', '', 'FUS', 'CHOP', '12169678', '37', 'liposarcoma;sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Several different structures of the fusion genes were reported in the case of the TLS/FUS-CHOP form, whereas only one type of structure has so far been found for the EWS-CHOP form, which consisted of exons 1 to 7 of the EWS and exons 2 to 4 of the CHOP gene. '), ('5709', 'MLL_ELL', 't(6;11)(q27;q23) / t(9;11)(p21;q23) / t(11;17)(q23;q21) / t(11;19) / ', 'MLL', 'ELL', '16086288', '37', '', 'PCR', '', '', '', '', '', 'KB', 'Seq', 'MLL rearrangements consisting of MLL/AF6 (1 case), MLL/AF9 (1 case), MLL/AF17 (2 cases), MLL/ELL (2 cases) and MLL partial tandem duplication(2 cases) were detected in 8 cases by RT-multiplex nested PCR. '), ('5710', 'NTRK3_ETV6', '', 'NTRK3', 'ETV6', '12210087', '37', 'fibrosarcoma;sarcoma\r\r', 'PCR;RT-PCR', 'Kinase', '', '', '', '', 'KB', 'Seq', 'Although a variety of non-neuronal tissues have also been shown to express TrkC, the status of TrkC in soft tissue tumours has been poorly investigated, except for a small fraction of tumours including congenital/infantile fibrosarcoma characterized by an ETV6-NTRK3 (also known as Tel-TrkC) fusion gene. '), ('5711', 'EML1_ABL1', '', 'EML1', 'ABL1', '19166098', '37', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'To obtain insight in the contribution of activated kinases to the pathogenesis ofT-cell acute lymphoblastic leukemia (T-ALL), we studied the NUP214-ABL1 fusion gene that is found in 6% of T-ALL and EML1-ABL1 that we identified in one T-ALL patient.     ///    Both proteins transform hematopoietic cells and we established mouse models of EML1-ABL1 and NUP214-ABL1 induced T-ALL.     ///    NUP214-ABL1 and EML1-ABL1 display constitutive kinase activity and are sensitive to the kinase inhibitor imatinib.     ///    \"Interestingly, whereas EML1-ABL1 activity requires homo-oligomerization via its coiled coil domain, activity of NUP214-ABL1 depends on its cellular localization to the nuclear pore complexes. \"'), ('5712', 'SYT_SSX1', '', 'SYT', 'SSX1', '11866984', '37', 'synovial sarcoma;adenocarcinoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'All 10 biphasic synovial sarcoma cases had the SYT-SSX1 fusion, whereas 12 of 18 monophasic synovial sarcoma had the SYT-SSX1 and 6 had the SYT-SSX2 fusion gene (P < 0.05).     ///    \"In 33 SYT-SSX positive synovial sarcomas, 22 had SYT-SSX1 and 6 had SYT-SSX2 fusion transcripts. \"'), ('5713', 'TPM3_ROS1', '', 'TPM3', 'ROS1', '25180059', '37', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Among the 50 EGFR wild type patients who detected fusion genes, 14 carried EML4-ALK fusion (28%), 2 had TPM3-ROS1 fusion (4%), and 3 harbored KIF5B-RET fusion (6%).    ///    \"Among the 50 EGFR wild type patients who detected fusion genes, 14 carried EML4-ALK fusion (28%), 2 had TPM3-ROS1 fusion (4%), and 3 harbored KIF5B-RET fusion (6%). \"'), ('5714', 'RARA_PML', '', 'RARA', 'PML', '8525772', '37', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The presence of the PML/retinoic acid receptor-alpha (PML/RAR-alpha) fusion gene is a marker for sensitivity to this agent. '), ('5715', 'EML4_ALK', '', 'EML4', 'ALK', '21415216', '37', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' EML4-ALK (echinoderm microtubule-associated protein-like 4 anaplastic lymphoma kinase) was recently identified as a transforming fusion gene in non-small cell lung cancer.     ///    We established NIH 3T3 cells that stably express variant 1 or 3 of EML4-ALK and examined the signaling molecules that function downstream of EML4-ALK.    ///    \"Forced expression of EML4-ALK induced marked activation of extracellular signal-regulated kinase (ERK) and STAT3, but not that of AKT. \"    ///    The purpose of the present study was to characterize the mechanism of malignant transformation by EML4-ALK.     ///    \"Inhibition of ERK or STAT3 signaling resulted in substantial attenuation of the proliferation of cells expressing either variant of EML4-ALK, suggesting that these signaling pathways function downstream of EML4-ALK in lung cancer cells. \"'), ('5716', 'SS18_SSX1', '', 'SS18', 'SSX1', '24022186', '37', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'HEK 293T and NIH 3T3 cell lines were transfected with the SS18-SSX1 or SS18-SSX2 gene to determine the respective involvement of these fusion genes in cell proliferation and invasion.    ///    HEK 293T and NIH 3T3 cell lines were transfected with the SS18-SSX1 or SS18-SSX2 gene to determine the respective involvement of these fusion genes in cell proliferation and invasion. '), ('5717', 'RARA_PML', 't(15;17)  / t(11;17)  / ', 'RARA', 'PML', '7719245', '37', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The heterogeneity of the PML rearrangements juxtaposes different PML gene portions to the same set of RAR alpha exons, producing two major PML-RAR alpha fusion mRNA isoforms. '), ('5718', 'MLL_AF17', 't(6;11)(q27;q23) / t(9;11)(p21;q23) / t(11;17)(q23;q21) / t(11;19) / ', 'MLL', 'AF17', '16086288', '37', '', 'PCR', '', '', '', '', '', '', '', 'MLL rearrangements consisting of MLL/AF6 (1 case), MLL/AF9 (1 case), MLL/AF17 (2 cases), MLL/ELL (2 cases) and MLL partial tandem duplication(2 cases) were detected in 8 cases by RT-multiplex nested PCR. '), ('5719', 'PAX3_FOXO1', '', 'PAX3', 'FOXO1', '26008753', '37', 'rhabdomyosarcoma;sarcoma\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'There was no significant difference in the overall survival between patients with the positive and negative fusion gene, but there were indications of PAX3-FOXO1 being an unfavorable prognostic factor..     ///    \"Four eligible studies showed that PAX3-FOXO1 fusion variant may indicate a lower survival probability than PAX7-FOXO1, although the effect did not reach a level of statistical significance (pooled hazard ratios, 1.66; 95% CI, 0.95-2.89; p=0.07).\"    ///    \"Four eligible studies showed that PAX3-FOXO1 fusion variant may indicate a lower survival probability than PAX7-FOXO1, although the effect did not reach a level of statistical significance (pooled hazard ratios, 1.66. \"'), ('5720', 'TEL_AML1', 't(12;21)  / ', 'TEL', 'AML1', '10084082', '37', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia\r\r', '', '', '', '', '', '', '', '', 'Biology and clinical significance of the TEL/AML1 rearrangement..     ///    \"Although first described less than four years ago, the TEL/AML1 story is an excellent example of how close collaboration between physicians and molecular biologists is mandatory for achieving general insights into the molecular pathogenesis of leukemia and for further improvements in diagnosis and in monitoring response to chemotherapy.. \"'), ('5721', 'CCND1_CDK2', '', 'CCND1', 'CDK2', '15355984', '37', '', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'As a model to investigate the biological and biochemical functions of cyclin D1-Cdk2 complexes, and the mechanisms by which cyclin D1 activates Cdk2, a cyclin D1-Cdk2 fusion gene was constructed.     ///    \"Furthermore, cyclin D1-Cdk2 complexes catalyze Rb phosphorylation on multiple sites in vitro. \"    ///    \"This report demonstrates that Cdk2 in cyclin D1-Cdk2 complexes from mammary epithelial cells is phosphorylated on the activating phosphorylation site, Thr(160). \"    ///    \"Cyclin D1-Cdk2 complexes were previously observed in human breast cancer cell lines, but their role in cell cycle regulation and transformation was not investigated. \"    ///    We propose that cyclin D1-Cdk2 complexes mediate some of the transforming effects of cyclin D1 and demonstrate that the cyclin D1-Cdk2 fusion protein is a useful model to investigate the biological functions of cyclin D1-Cdk2 complexes..     ///    Construction of a cyclin D1-Cdk2 fusion protein to model the biological functions of cyclin D1-Cdk2 complexes..     ///    The cyclin D1-Cdk2 fusion protein expressed in epithelial cells was phosphorylated on Thr(160) and catalyzed the phosphorylation of Rb on multiple sites in vitro and in vivo.     ///    \"Cells stably expressing the cyclin D1-Cdk2 fusion protein exhibited several hallmarks of transformation including hyperphosphorylation of Rb, resistance to TGFbeta-induced growth arrest, and anchorage-independent proliferation in soft agar. \"'), ('5722', 'RARA_PL', '', 'RARA', 'PL', '21177095', '37', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', ' In this study, a novel DNA electrochemical probe (locked nucleic acid, LNA) was designed and involved in constructing an electrochemical DNA biosensor for detection of promyelocytic leukemia/retinoic acid receptor alpha (PML/RAR?) fusion gene in acute promyelocytic leukemia for the first time. '), ('5723', 'RAR_PL', '', 'RAR', 'PL', '23787474', '37', 'acute promyelocytic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Detection of promyelocytic leukemia/retinoic acid receptor ? (PML/RAR?) fusion gene with functionalized graphene oxide..     ///    \" An attempt was made to use functionalized graphene oxide (GO) to detect the Promyelocytic leukemia/Retinoic acid receptor ? fusion gene (PML/RAR? fusion gene), a marker gene of acute promyelocytic leukemia. \"'), ('5724', 'ETV6_ARG', 't(1;12)(q25;p13) / ', 'ETV6', 'ARG', '10590083', '37', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The reciprocal transcript ARG-ETV6 was also detected in the patient RNA by reverse transcriptase-polymerase chain reaction (RT-PCR), although at a lower expression level. '), ('5725', 'PDGFR_KIAA1509', '', 'PDGFR', 'KIAA1509', '21054467', '37', 'leukemia;hypereosinophilic syndrome\r\r', '', '', '', '', '', '', '', '', 'The fusion gene detection was positive for KIAA1509-PDGFR?. '), ('5726', 'EWS_ERG', '', 'EWS', 'ERG', '21384537', '37', 'ewing sarcoma;leukemia;sarcoma\r\r', '', '', '', '', '', '', '', '', 'EWS-FLI1 fusion genes were detected in 17 cases (74%) and EWS-ERG in six cases (26%). '), ('5727', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '17464329', '37', '', '', '', '', '', '', '', '', '', ' The chimeric fusion protein AML1-ETO, created by the t(8;21) translocation, recruits histone deacetylase (HDAC) to AML1-dependent promoters, resulting in transcriptional repression of the target genes.     ///    Novel role of HDAC inhibitors in AML1/ETO AML cells: activation of apoptosis and phagocytosis through induction of annexin A1..     ///    Induction of ANXA1 mRNA was associated with histone acetylation in ANXA1 promoter and reversal of the HDAC-dependent suppression of C/EBPalpha by AML1-ETO with direct recruitment of C/EBPalpha to ANXA1 promoter. '), ('5728', 'RET_KIF5B', '', 'RET', 'KIF5B', '25180059', '37', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Among the 50 EGFR wild type patients who detected fusion genes, 14 carried EML4-ALK fusion (28%), 2 had TPM3-ROS1 fusion (4%), and 3 harbored KIF5B-RET fusion (6%). '), ('5729', 'EWSR1_DDIT3', '', 'EWSR1', 'DDIT3', '25393000', '37', 'liposarcoma;sarcoma\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', '', ' Myxoid/round-cell liposarcoma (MLS/RCLS) is characterized by either the fusion gene FUS-DDIT3 or the less commonly occurring EWSR1-DDIT3 and most cases carry few or no additional cytogenetic changes. '), ('5730', 'PAX7_FOXO1', '', 'PAX7', 'FOXO1', '22454413', '37', 'rhabdomyosarcoma;sarcoma\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'Furthermore, a new clinicomolecular risk score that incorporated fusion gene status (negative and PAX3/FOXO1 and PAX7/FOXO1 positive), Intergroup Rhabdomyosarcoma Study TNM stage, and age showed a significant increase in performance over the current risk-stratification scheme.     ///    \"Among nonmetastatic patients, patients who were PAX3/FOXO1 positive had a significantly poorer outcome compared with both alveolar-negative and PAX7/FOXO1-positive patients. \"'), ('5731', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '19466970', '37', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Acute myeloid leukaemia with associated eosinophilia: justification for FIP1L1-PDGFRA screening in cases lacking the CBFB-MYH11 fusion gene.. '), ('5732', 'PDGFRB_ATF7IP', '', 'PDGFRB', 'ATF7IP', '26703895', '37', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', '', '', 'Receptor', 'Transcription_Factor', '', '', ' ATF7IP-PDGFRB is a novel PDGFRB-related fusion gene identified in B-cell precursor acute lymphoblastic leukemia (BCP-ALL) with a signature similar to that of Ph1 ALL, so-called Ph-like ALL.     ///    The introduction of ATF7IP-PDGFRB also induces a typical gene expression profile for Ph1-ALL in Ba/F3 cells.     ///    \"A series of biochemical and cell biological experiments revealed the constitutive activation of ATF7IP-PDGFRB as well as downstream signaling molecules, including AKT and MAPK. \"    ///    \"Although the phosphoinositide 3-kinase inhibitor led to cell death in both cells into which ATF7IP-PDGFRB had been introduced and IL-3-maintained Mock cells, MEK inhibitor selectively led to cell death into which ATF7IP-PDGFRB had been introduced. \"    ///    \"Taken together, ATF7IP-PDGFRB has transforming potential via the constitutive activation of MAPK and participates in the pathogenesis of Ph-like ALL. \"    ///    \"When we introduced ATF7IP-PDGFRB, murine Ba/F3 cells acquired the ability to proliferate in an interleukin (IL)-3-independent manner. \"    ///    Ph-like ALL-related novel fusion kinase ATF7IP-PDGFRB exhibits high sensitivity to tyrosine kinase inhibitors in murine cells.. '), ('5733', 'IGH_BCL2', 't(14;18)  / ', 'IGH', 'BCL2', '16231354', '37', 'non Hodgkin lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In conclusion, current data support the concept that production of IgH gene rearrangements is not associated with Bcl-2/IgH chromosomal translocation in hepatic compartment.     ///    We failed to demonstrate specific Bcl-2/IgH amplicons either in liver tissue or in PBMCs in all patients of the current series.     ///    \"Polymerase chain reaction (PCR) amplification assays for Bcl-2/IgH rearrangement were performed on nucleic acids extracted from portal tract inflammatory infiltrates, isolated with laser capture microdissection (LCM), from liver biopsy sections of 16 hepatitis C virus (HCV)-infected patients with and without extrahepatic B cell-related disorders. \"'), ('5734', 'ETO_AML1', 't(8;21) (q22;q22) / ', 'ETO', 'AML1', '16956837', '37', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'However, different lines of evidence suggest that the AML1-ETO rearrangement is not sufficient to cause the full leukemic phenotype.     ///    A new D816 c-KIT gene mutation in refractory AML1-ETO leukemia.. '), ('5735', 'MBR_BCL2', 't(14;18)  / ', 'MBR', 'BCL2', '1906343', '37', 'follicular lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Structural alterations in the 5\' region of the BCL2 gene in follicular lymphomas with BCL2-MBR or BCL2-MCR rearrangements.. '), ('5736', 'MYH11_CBFB', 'inv(16) / t(9;22)  / inv(16)  / t(8;10)(p23;q25) / t(8;10) / t(10;16)(p13;q22) / inv(16)(p13q22) / t(10;16) / t(9;22)(q34;q11) / ', 'MYH11', 'CBFB', '23054652', '37', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'CBFB/MYH11 (A type) and BCR/ABL1 (b3a2) fusion transcripts were both detected by real-time quantitative RT-PCR. '), ('5737', 'TP53_PDGFRB', '', 'TP53', 'PDGFRB', '22541084', '37', '', '', 'Kinase', '', 'Tumor_suppressor', 'Receptor', 'Transcription_Factor', '', '', 'The results indicated that among 12 cases of myeloid neoplasms with PDGFRB abnormalities, 5 cases with TEL/PDGFRB fusion gene, 2 cases with HEPI/PDGFRB, 1 case with PDGFRB mutation, 1 case with RABAPTIN-5/PDGFRB, 1 case with GIT2/PDGFRB, 1 case with TP53/PDGFRB, 1 case with WDR43/PDGFRB fusion gene were detected, showing the polymorphism of PDGFRB gene abnormalities. '), ('5738', 'P16_P15', 't(5;14)(q35;q32) / del(1)(p36.31) / del(5)(q35) / del(13)(q14.3) / del(16)(q22.1) / del(19)(p13.2) / ', 'P16', 'P15', '18185524', '37', 'T ALL\r\r', '', '', '', '', '', '', '', '', 'Although a number of collaborating genetic events have been identified in TLX3 rearranged T-ALL patients (NOTCH1 mutations, p15/p16 deletions, NUP214-ABL1 amplifications), further elucidation of additional genetic lesions could provide a better understanding of the pathogenesis of this specific T-ALL subtype. '), ('5739', 'DEK_CAN', '', 'DEK', 'CAN', '16645213', '37', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' NPM1 gene mutations are the most frequent genetic lesion in the 60% of adult acute myeloid leukemias (AMLs) with normal karyotype and no evidence of typical fusion genes (BCR/ABL1, PML/RARA, AML1/ETO, CBFB/MYH11, DEK/CAN). '), ('5740', 'PDGFRB_GIT2', '', 'PDGFRB', 'GIT2', '22541084', '37', '', '', 'Kinase', '', '', 'Receptor', '', '', '', 'The results indicated that among 12 cases of myeloid neoplasms with PDGFRB abnormalities, 5 cases with TEL/PDGFRB fusion gene, 2 cases with HEPI/PDGFRB, 1 case with PDGFRB mutation, 1 case with RABAPTIN-5/PDGFRB, 1 case with GIT2/PDGFRB, 1 case with TP53/PDGFRB, 1 case with WDR43/PDGFRB fusion gene were detected, showing the polymorphism of PDGFRB gene abnormalities. '), ('5741', 'IL6_IL10', '', 'IL6', 'IL10', '12784729', '37', 'lymphoma', 'PCR', '', '', '', '', '', '', '', '[A case of intraocular malignant lymphoma diagnosed by immunoglobulin gene rearrangement and translocation, and IL-10/IL-6 ratio in the vitreous fluid].. '), ('5742', 'HRX_ALL1', 't(9;11)(p22;q23) / ', 'HRX', 'ALL1', '7948964', '37', 'leukemia;lung cancer\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Southern blot analysis revealed the rearrangement of the MLL (ALL-1/HRX) gene at 11q23. '), ('5743', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '21841337', '37', 'leukemia;hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' A 23-year-old female was diagnosed as having simultaneous ulcerative colitis (UC) relapse and hypereosinophilic syndrome (HES)/chronic eosinophilic leukemia (CEL) without FIP1L1-platelet-derived growth factor receptor alpha (PDGFRA) (F/P) fusion gene. '), ('5744', 'RAR_PL', '', 'RAR', 'PL', '25092303', '37', 'acute promyelocytic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' In most acute promyelocytic leukemia (APL) cases, translocons produce a promyelocytic leukemia protein-retinoic acid receptor ? (PML-RAR?) fusion gene. '), ('5745', 'TEL_AML1', '', 'TEL', 'AML1', '15561678', '37', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'She provides an overview of leukemias that are common in pediatric malignancies but rarely observed in adults, including the TEL-AML1 (ETV6-RUNX1) fusion associated with pediatric B-cell ALL, the OTT-MAL fusion associated with infant megakaryoblastic leukemia, PTPN11 mutations in juvenile myelomonocytic leukemia, and MLL fusion genes in leukemogenesis, among others.. '), ('5746', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '22432087', '37', 'large granular lymphocyte leukemia', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Aberrant activation of PDGF receptors occurs in myeloid malignancies associated with hypereosinophilia, due to chromosomal alterations that produce fusion genes, such as ETV6-PDGFRB or FIP1L1-PDGFRA. '), ('5747', 'CBX3_C15orf57', '', 'CBX3', 'C15orf57', '25499959', '37', 'adenocarcinoma\r\r', 'PCR', '', '', '', '', '', '', 'Seq', 'Moreover, we firstly discovered 3 fusion genes in GCA, including BMX-ARHGAP, LRP5- LITAF and CBX3-C15orf57. '), ('5748', 'WAF1_CIP1', 't(1;17) / p36.2;q11.2 / ', 'WAF1', 'CIP1', '25958384', '37', 'neuroblastoma', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Protein levels of CDKN1A-encoded p21(CIP1/WAF1) were determined by western blotting and the importance of p53 was shown by immunofluorescence and by a loss-of-function approach.     ///    Forced expression of NBPF1 in HEK293T cells resulted in a G1 cell cycle arrest that was accompanied by upregulation of the cyclin-dependent kinase inhibitor p21(CIP1/WAF1) in a p53-dependent manner. '), ('5749', 'ETO_AML1', '', 'ETO', 'AML1', '8545449', '37', 'myeloid leukemia;leukemia;down syndrome\r\r', '', '', '', '', '', '', '', '', 'The AML1/PEBP2alpha gene maps to the DS critical region and is characteristically associated with two leukemia-associated chromosomal translocations: 1) the 8;21 translocation involving an AML1/ETO fusion transcript commonly seen in acute myelogenous leukemia (AML) and. '), ('5750', 'IGH_BCL2', 't(14;18) / t(14;18)  / ', 'IGH', 'BCL2', '19030176', '37', 'follicular lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'We determined the age dependent prevalence and frequency of BCL2/IgH rearrangements in 715 healthy individuals ranging from newborns to octo- and nonagenarians.     ///    The mean frequency of BCL2/IgH junctions in healthy individuals > or =40 years (18-26 x 10(-6)) was significantly higher than in younger subjects (7-9 x 10(-6)).     ///    \"In the age groups representing 10-50 years old, we found a steady elevation in the prevalence of BCL2/IgH junctions up to a prevalence of 66%. \"    ///    The overall prevalence of BCL2/IgH junctions in this large sample was 46% (327/715). '), ('5751', 'MUM1_IRF4', 't(11;14)  / t(15;17)  / t(2;5)  / ', 'MUM1', 'IRF4', '11781220', '37', 'T cell lymphoma;leukemia;follicular lymphoma;mantle cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'The protein products of other genes activated by chromosomal rearrangement have a role as markers of either lineage (eg, PAX-5 [B-cell-specific activator protein] for B cells, including B-lymphoblastic neoplasms), or maturation stage (eg, BCL-6 for germinal-center and activated B cells and MUM-1/IRF4 for plasma cells). '), ('5752', 'EML4_ALK', '', 'EML4', 'ALK', '23279872', '37', 'lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Both tumors also harbored the EML4 (echinoderm microtubule-associated protein-like 4)-ALK (anaplastic lymphoma kinase) fusion gene (variant 3a+b).     ///    Solitary pulmonary metastasis from lung cancer harboring EML4-ALK after a 15-year disease-free interval.. '), ('5753', 'TMPRSS2_ETV4', '', 'TMPRSS2', 'ETV4', '18642766', '37', 'prostate cancer\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', 'Seq', 'Nested RT-PCR and direct DNA sequencing were used to detect the fusion genes of TMPRSS2/ERG, TMPRSS2/ETV1, and TMPRSS2/ETV4.     ///    TMPRSS2/ETV4 fusion was not detected. '), ('5754', 'CHRNG_CHRND', 't(2;13)(q35;q14) / ', 'CHRNG', 'CHRND', '2069913', '37', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Conventional gel electrophoresis followed by Southern blot analysis indicated no evidence of rearrangement within or near these genes except for a rearrangement in the CHRNG-CHRND locus, which occurred only in a subpopulation of the late recurrence tumor cells of one patient. '), ('5755', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '19686260', '37', 'lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Chronic eosinophilic leukaemia revealed by lymphomatoid papulosis: the role of the FIP1-like 1-platelet-derived growth factor receptor alpha fusion gene.. '), ('5756', 'PVT1_NSMCE2', '', 'PVT1', 'NSMCE2', '25245984', '37', 'leukemia\r\r', '', '', '', '', '', '', '', 'Seq', 'Through comprehensive molecular analyses of 8q24 amplicons in leukemic cells from an acute myelogenous leukemia (AML) patient and AML-derived cell line HL60 cells, we identified two novel fusion genes between NSMCE2 and long noncoding RNAs (lncRNAs), namely, PVT1-NSMCE2 and BF104016-NSMCE2. '), ('5757', 'EML4_ALK', '', 'EML4', 'ALK', '27045755', '37', 'non small cell lung cancer;lung cancer\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The third patient had three additional fusion genes, of which two were derived from the same chromosomal region as the EML4-ALK. '), ('5758', 'EML4_ALK', '', 'EML4', 'ALK', '21562939', '37', 'non small cell lung cancer', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'NSCLC with the EML4 (echinoderm microtubule-associated protein-like 4)-ALK (anaplastic lymphoma kinase) fusion gene is also more likely to occur in never smokers and in those with adenocarcinoma histology, and is expected to benefit from ALK inhibitors. '), ('5759', 'MCR_BCL2', 't(14;18)  / ', 'MCR', 'BCL2', '1906343', '37', 'follicular lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Structural alterations in the 5\' region of the BCL2 gene in follicular lymphomas with BCL2-MBR or BCL2-MCR rearrangements.. '), ('5760', 'NOR1_CHN', '', 'NOR1', 'CHN', '17545802', '37', 'chondrosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Molecular studies have established that extraskeletal myxoid chondrosarcoma is a unique entity defined by the presence of a fusion gene between the orphan nuclear receptor, CHN/NOR1, and a promiscuous partner, most commonly EWSR1. '), ('5761', 'MEF2D_CSF1R', '', 'MEF2D', 'CSF1R', '24186003', '37', 'leukemia\r\r', '', 'Kinase', '', '', '', 'Transcription_Factor', '', '', 'RNA-seq identifies clinically relevant fusion genes in leukemia including a novel MEF2D/CSF1R fusion responsive to imatinib.. '), ('5762', 'IGH_BCL2', 't(14;18)(q32;q21) / ', 'IGH', 'BCL2', '23666699', '37', 'follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'We describe two multiplex TaqMan-based real-time PCR assays which can be used to detect and quantify the major and minor breatpoint cluster regions of IGH@/BCL2 fusion products in newly diagnosed FL, and to monitor minimal residual disease during treatment or early relapse..     ///    The high degree of sequence homology among the 3\' portion of the JH segments and the clustering of breakpoints on chromosome 18 make the IGH@/BCL2 very amenable to polymerase chain reaction (PCR) detection. '), ('5763', 'BGAL11_ZFP105', '', 'BGAL11', 'ZFP105', '20186958', '37', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'To further characterize Zfp105 expression, we generated a Zfp105:beta-galactosidase (LacZ) knock-in reporter mouse line (Zfp105(LacZ/+)) in which a Zfp105:LacZ fusion gene was expressed. '), ('5764', 'MYH11_CBFB', '', 'MYH11', 'CBFB', '16645213', '37', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' NPM1 gene mutations are the most frequent genetic lesion in the 60% of adult acute myeloid leukemias (AMLs) with normal karyotype and no evidence of typical fusion genes (BCR/ABL1, PML/RARA, AML1/ETO, CBFB/MYH11, DEK/CAN). '), ('5765', 'PWCR1_HBII-85', 't(4;15) / ', 'PWCR1', 'HBII-85', '15877813', '37', 'Prader Willi syndrome\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'As part of the PWCR1/HBII-85 snoRNA cluster is highly conserved between human and mice, while no copy of HBII-438 has been found in mouse, we conclude that PWCR1/HBII-85 snoRNAs is likely to play a major role in the PWS- phenotype..     ///    \"By RT-PCR of lymphoblasts and fibroblasts, we find that upstream SNURF/SNRPN exons and snoRNAs HBII-437 and HBII-13 are expressed, but the downstream snoRNAs PWCR1/HBII-85 and HBII-438A/B snoRNAs are not. \"'), ('5766', 'EML4_ALK', '', 'EML4', 'ALK', '22771825', '37', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Within the EML4-ALK cohort, patients with variants 1 or 3 of the fusion gene were predominant and did not appear to differ in their sensitivity to the platinum-based regimens.     ///    \"Platinum-based combination chemotherapy showed similar efficacies in the EML4-ALK, EGFR mutation, and wild-type cohorts in terms of response rate and progression-free survival, and overall survival in the EML4-ALK cohort closely resembled that in the wild-type cohort. \"    ///    \"Among 200 patients with advanced nonsquamous NSCLC, 18 (9.0%) were positive for EML4-ALK, 31 (15.5%) harbored EGFR mutations, and 151 (75.5%) were wild type for both abnormalities. \"    ///    The efficacy of platinum-based chemotherapy was compared between patients with advanced nonsquamous NSCLC who harbor EML4-ALK and those who harbor EGFR mutations and those with neither molecular abnormality.     ///     The EML4-ALK fusion oncogene represents a recently identified molecular target in a subset of patients with non-small-cell lung cancer (NSCLC). '), ('5767', 'BCR_ABL1', '', 'BCR', 'ABL1', '23168614', '37', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Acute lymphoblastic leukemia associated with RCSD1-ABL1 novel fusion gene has a distinct gene expression profile from BCR-ABL1 fusion.. '), ('5768', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '18950453', '37', 'hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In CEL with FIP1L1-PDGFRA (n = 16) or various PDGFRB fusion genes (n = 5), complete haematological remission (CHR) was achieved in 95% (20/21) after 3 months.     ///    \"Complete molecular remission (CMR) was seen in 75% (12/16) of cases with FIP1L1-PDGFRA positive CEL by 6 months, and in 87% (13/15) after 12 months. \"'), ('5769', 'RAR_PL', '', 'RAR', 'PL', '24619838', '37', 'acute promyelocytic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Here we report on the effect of an active compound of Sophora flavescens called matrine (0.1 mmol/L) combined with all-trans retinoic acid (1 ?mol/L) in alleviating retinoic acid resistance in acute promyelocytic leukemia-derived NB4-LR1 cells by differentiation induction, as can be seen by an induced morphology change, increased CD11b expression, and nitro blue tetrazolium reduction activity, and a decreased expression of the promyelocytic leukemia-retinoic acid receptor ? fusion gene and protein product. '), ('5770', 'ETO_AML1', '', 'ETO', 'AML1', '25678855', '37', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The PML/RAR? fusion gene was present in six patients and two patients presented a mixed PML/RAR? and AML1/ETO genotype. '), ('5771', 'FOXO4_CIC', '', 'FOXO4', 'CIC', '25010205', '37', 'ewing sarcoma;sarcoma\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'We identify samples harboring novel fusion genes including FUS-NCATc2 and CIC-FOXO4 that may represent distinct small round blue cell tumor variants. '), ('5772', 'ETO_AML1', '', 'ETO', 'AML1', '23713453', '37', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Moreover, we provide the first evidence that primary AML samples with AML1-ETO or PML-RAR? have a higher LEF1 level compared with those without each fusion gene. '), ('5773', 'EML4_ALK', '', 'EML4', 'ALK', '21206384', '37', 'lung cancer;mesothelioma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Several studies on the development and testing of new molecular diagnostic tests to detect epidermal growth factor receptor tyrosine kinase mutations and EML4-ALK (Echinoderm Microtubule-associated Protein like 4 Anaplastic Lymphoma Receptor Tyrosine Kinase) fusion gene were presented as well.. '), ('5774', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '19478459', '37', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Ectopic expression of the fusion gene characteristic of ARMS (paired box 3-forkhead homolog in rhabdomyosarcoma [PAX3-FKHR]) in ERMS cells was sufficient to convert them to an ARMS signaling phenotype and render ILK activity oncogenic. '), ('5775', 'OTT_MAL', '', 'OTT', 'MAL', '15561678', '37', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'She provides an overview of leukemias that are common in pediatric malignancies but rarely observed in adults, including the TEL-AML1 (ETV6-RUNX1) fusion associated with pediatric B-cell ALL, the OTT-MAL fusion associated with infant megakaryoblastic leukemia, PTPN11 mutations in juvenile myelomonocytic leukemia, and MLL fusion genes in leukemogenesis, among others.. '), ('5776', 'NUP214_ABL1', 't(5;14)(q35;q32) / del(1)(p36.31) / del(5)(q35) / del(13)(q14.3) / del(16)(q22.1) / del(19)(p13.2) / ', 'NUP214', 'ABL1', '18185524', '37', 'T ALL\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Although a number of collaborating genetic events have been identified in TLX3 rearranged T-ALL patients (NOTCH1 mutations, p15/p16 deletions, NUP214-ABL1 amplifications), further elucidation of additional genetic lesions could provide a better understanding of the pathogenesis of this specific T-ALL subtype. '), ('5777', 'SSX_SS18', '', 'SSX', 'SS18', '22439931', '37', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' Synovial sarcoma is a translocation-associated sarcoma where the underlying chromosomal event generates SS18-SSX fusion transcripts.     ///    \"We have purified a core SS18-SSX complex and discovered that SS18-SSX serves as a bridge between activating transcription factor 2 (ATF2) and transducin-like enhancer of split 1 (TLE1), resulting in repression of ATF2 target genes. \"    ///    Deconstruction of the SS18-SSX fusion oncoprotein complex: insights into disease etiology and therapeutics..     ///    In?vitro and in?vivo studies have shown that the SS18-SSX fusion oncoprotein is both necessary and sufficient to support tumorigenesis. '), ('5778', 'MBR_IGH', 't(14;18)(q32;q21) / t(14;18)  / t(14;18) / ', 'MBR', 'IGH', '9443038', '37', 'non Hodgkin lymphoma;lymphoma\r\r', 'PCR', '', '', '', '', '', '', '', 'The size of the LD-PCR products ranged from 3.9 kb to 10.7 kb in MBR/IGH fusion and 1.9 kb to 16 kb in mcr/IGH fusion. '), ('5779', 'IGH_BCL2', 't(14,18)  /  / ', 'IGH', 'BCL2', '10975396', '37', 'follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Serum BCL2/IGH DNA in follicular lymphoma patients: a minimal residual disease marker..     ///    Results show that four of the five lymphoma patients carried extracellular BCL2/IGH transgene DNA in their serum.     ///    \"We identify extracellular BCL2/IGH transgene DNA in the serum of patients with follicular lymphoma, and evaluate its utility as a surrogate marker. \"'), ('5780', 'BCR_ABL1', '', 'BCR', 'ABL1', '21168207', '37', 'myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In addition, significant negative correlations were observed between CMTM5 and three leukemia-specific fusion genes (AML1-ETO, PML-RAR? and BCR/ABL1). '), ('5781', 'ETO_AML1', 'inv(16) / t(8;21)  / ', 'ETO', 'AML1', '15167911', '37', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'In all these patients, the presence of four well-known molecular abnormalities were also simultaneously characterized: PML/RARalpha, AML1/ETO, CBFbeta/MYH11 and MLL rearrangements. '), ('5782', 'ETO_AML1', 't(8;21) / t(8;21)(q22;q22) / ', 'ETO', 'AML1', '15674426', '37', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'We prospectively monitored AML1-ETO rearrangement by real-time quantitative PCR (RQ-PCR) in 21 patients uniformly treated in our center.     ///    Comparison of BM and PB samples showed similar sensitivity for detecting AML1-ETO transcript.     ///    \"At diagnosis, levels of AML1-ETO transcript showed large variations and there was a trend for a higher relapse rate in patients with high pretreatment expression levels (P=0.065). \"'), ('5783', 'P26_BCL2', 't(14;18)  / ', 'P26', 'BCL2', '9209654', '37', 'diffuse large cell lymphoma', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'They also show that transformation of FL cells can be associated with somatic point mutations of the bcl-2 oncogene ORF sequence resulting in alteration of the p26-bcl-2a gene product.. '), ('5784', 'IGH_BCL1', 't(11;14)(q13;q32) / ', 'IGH', 'BCL1', '23666700', '37', 'mantle cell lymphoma;mantle cell lymphoma;lymphoma\r\r', 'PCR', '', '', '', '', '', '', '', 'We describe a TaqMan-based real-time PCR assay to detect and quantify IGH@/BCL1 fusion products in newly diagnosed MCL, and to monitor minimal residual disease during treatment or early relapse in MTC-positive cases.. '), ('5785', 'SSX2_SS18', '', 'SSX2', 'SS18', '24022186', '37', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'HEK 293T and NIH 3T3 cell lines were transfected with the SS18-SSX1 or SS18-SSX2 gene to determine the respective involvement of these fusion genes in cell proliferation and invasion.     ///    \"Overall survival was significantly better among SS18-SSX2 cases (P=0.001), FNCLCC grade 2 cases (P<0.001), and UICC stage 1 or 2 (P<0.001) by univariate and multivariate survival analysis. \"'), ('5786', 'RABEP1_PDGFRB', '', 'RABEP1', 'PDGFRB', '22541084', '37', '', '', 'Kinase', '', '', 'Receptor', '', 'KB', '', 'The results indicated that among 12 cases of myeloid neoplasms with PDGFRB abnormalities, 5 cases with TEL/PDGFRB fusion gene, 2 cases with HEPI/PDGFRB, 1 case with PDGFRB mutation, 1 case with RABAPTIN-5/PDGFRB, 1 case with GIT2/PDGFRB, 1 case with TP53/PDGFRB, 1 case with WDR43/PDGFRB fusion gene were detected, showing the polymorphism of PDGFRB gene abnormalities. '), ('5787', 'LRP5_LITAF', '', 'LRP5', 'LITAF', '25499959', '37', 'adenocarcinoma\r\r', 'PCR', '', '', '', '', '', '', '', 'Moreover, we firstly discovered 3 fusion genes in GCA, including BMX-ARHGAP, LRP5- LITAF and CBX3-C15orf57. '), ('5788', 'ETV6_ARG', 't(1;12)(q25;p13) / t(15;17) / ', 'ETV6', 'ARG', '10706884', '36', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'The reciprocal ARG/ETV6 transcript was not expressed, and the normal ETV6 allele was not deleted or rearranged.     ///    The ETV6/ARG protein may be involved in the unique differentiation capacity of this cell line.     ///    \"The ETV6/ARG transcripts consisted of exon 1 to 5 of ETV6 and the 3\' portion of ARG starting from exon 1B or exon 2, resulting in an open reading frame for a fusion protein consisting of the entire PNT oligomerization domain of ETV6 and all of the functional domains of ARG including the TK domain. \"'), ('5789', 'RET_PTC3', '', 'RET', 'PTC3', '10773666', '36', '', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', '', '', 'Three main rearranged forms of RET have been described: RET/PTC1 and RET/PTC3, which arise from a paracentric inversion of the long arm of chromosome 10, and RET/PTC2, which originates from a 10;17 translocation.     ///    \"Among PTCs, 13 (18.8%) showed a RET rearrangement, and 11 (15.9%) of these carried an inversion (RET/PTC1 or RET/PTC3) in more than 10% of the nuclei examined. \"'), ('5790', 'RARA_PML', '', 'RARA', 'PML', '8385082', '36', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Detection of PML/retinoic acid receptor a gene rearrangements by polymerase chain reaction using genomic DNA in patients with acute promyelocytic leukemia.. '), ('5791', 'RAD51C_ATXN7', '1p13.1 / 3p14.1 / ', 'RAD51C', 'ATXN7', '19056696', '36', 'breast cancer\r\r', '', '', '', '', '', '', '', '', 'One of the four expressed fusion products (RAD51C-ATXN7) and one gene truncation (BRIP1 or BACH1) involve genes coding for members of protein complexes responsible for homology-driven repair of double-stranded DNA breaks. '), ('5792', 'RN28S1_IGKV3-20', 't(6;14)(q25;q32) / ', 'RN28S1', 'IGKV3-20', '24504345', '36', '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. '), ('5793', 'NST_IDC', '', 'NST', 'IDC', '25041824', '36', 'papillary carcinoma;breast cancer\r\r', '', '', '', '', '', '', '', '', 'Microarray-based gene expression and Affymetrix SNP 6.0 gene copy number profiling, and RNA-sequencing revealed that PCs are luminal breast cancers that display transcriptomic profiles distinct from those of grade- and estrogen receptor (ER)-matched invasive ductal carcinomas of no special type (IDC-NSTs), and that the papillary histologic pattern is unlikely to be underpinned by a highly recurrent expressed fusion gene or a highly recurrent expressed mutation. '), ('5794', 'KIR_Immunoglobulin ', '', 'KIR', 'Immunoglobulin ', '23724088', '36', '', '', '', '', '', '', '', '', '', 'Besides a previously identified non-functional KIR-Immunoglobulin-like transcript fusion gene (KIR-ILTA) and two putative pseudogenes, a KIR3DL-like sequence was analyzed. '), ('5795', 'TLS_CHOP', 't(12;16)(q32;q16) / ', 'TLS', 'CHOP', '9989822', '36', 'liposarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Characteristics of genomic breakpoints in TLS-CHOP translocations in liposarcomas suggest the involvement of Translin and topoisomerase II in the process of translocation.. '), ('5796', 'SULF2_ARFGEF2', '1p13.1 / 3p14.1 / ', 'SULF2', 'ARFGEF2', '19056696', '36', 'breast cancer\r\r', '', '', '', '', '', '', '', '', 'Another one of the four expressed fusion products (ARFGEF2-SULF2) involves SULF2, a regulator of cell growth and angiogenesis. '), ('5797', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '25457014', '36', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'While some studies have suggested a univariate relationship between urinary prostate cancer antigen 3 (PCA3) and transmembrane protease, serine 2-v-ets avian erythroblastosis virus E26 oncogene homolog gene fusion (TMPRSS2:ERG) with adverse biopsy features, these markers have not been consistently shown to independently predict AS outcomes. '), ('5798', 'CBF_AML1', 't(12;21)  / t(12;21)(p13;q22) / ', 'CBF', 'AML1', '8609706', '36', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', '', '', '', '', '', '', '', '', 'These data demonstrate that molecular diagnostic approaches are invaluable in identifying clinically distinct subgroups, and that the AML1/CBF beta transcription complex is the most frequent target of chromosomal rearrangements in human leukemia.. '), ('5799', 'RET_PTC2', '', 'RET', 'PTC2', '10773666', '36', '', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', '', '', 'Three main rearranged forms of RET have been described: RET/PTC1 and RET/PTC3, which arise from a paracentric inversion of the long arm of chromosome 10, and RET/PTC2, which originates from a 10;17 translocation. '), ('5800', 'MAK10_GOLM1', '', 'MAK10', 'GOLM1', '24243830', '36', 'esophageal cancer\r\r', '', '', '', '', '', '', '', '', 'Mechanistic studies reveal that GOLM1-MAK10 is likely derived from transcription read-through/splicing rather than being generated from a fusion gene.     ///    The secreted fusion protein translated from GOLM1-MAK10 could also serve as a unique protein signature detectable by standard non-invasive assays.     ///    \"While analyzing the expression of 32 recurrent cancer chimeric RNAs in esophageal squamous cell carcinoma (ESCC) from patients and cancer cell lines, we identified GOLM1-MAK10, as a highly cancer-enriched chimeric RNA in ESCC. \"    ///    Aberrant chimeric RNA GOLM1-MAK10 encoding a secreted fusion protein as a molecular signature for human esophageal squamous cell carcinoma..     ///    \"Furthermore, we demonstrate that chimera GOLM1-MAK10 encodes a secreted fusion protein. \"'), ('5801', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '15500711', '35', 'leiomyosarcoma', 'PCR;RT-PCR', '', 'Oncogene', '', '', '', 'KB', '', 'COL1A1-PDGFB fusion transcript was expressed in 8 of the 12 cases (66.7%) of DFSP. '), ('5802', 'LPP_HMGA2', '', 'LPP', 'HMGA2', '20332486', '35', 'liposarcoma;ewing sarcoma;sarcoma\r\r', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'One hundred and seventy-two cases of adipocytic tumors, comprising 98 cases of lipoma and 74 cases of liposarcoma, were analyzed for the possible expression of HMGA2-LPP, LPP-HMGA2, TLS-CHOP and EWS-CHOP fusion genes, using a reverse-transcription polymerase chain reaction method.     ///    \"One hundred and seventy-two cases of adipocytic tumors, comprising 98 cases of lipoma and 74 cases of liposarcoma, were analyzed for the possible expression of HMGA2-LPP, LPP-HMGA2, TLS-CHOP and EWS-CHOP fusion genes, using a reverse-transcription polymerase chain reaction method.\"    ///    \"In lipoma, twenty-two cases (22.4%) were associated with either HMGA2-LPP or LPP-HMGA2, while neither TLS-CHOP nor EWS-CHOP transcript was detectable. \"    ///    \"On the contrary, in liposarcoma, neither HMGA2-LPP nor LPP-HMGA2 transcript was detectable, although twenty-five cases (33.8%) were related to either TLS-CHOP or EWS-CHOP. \"    ///    \"HMGA2-LPP and LPP-HMGA2 were specific to lipoma, and TLS-CHOP and EWS-CHOP were specific to liposarcoma.. \"'), ('5803', 'EWS_ERG', '', 'EWS', 'ERG', '15500711', '35', 'leiomyosarcoma', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Of the 25 cases of ES/pPNET, 19 were positive for EWS-FLI1 fusion transcript and 1 for EWS-ERG fusion transcript. '), ('5804', 'SYT_SSX2', '', 'SYT', 'SSX2', '15735574', '35', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Biphasic synovial sarcoma expressed the SYT-SSX1 fusion transcript, whereas the monophasic subtype expressed the SYT-SSX2 fusion transcript. '), ('5805', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '17285543', '35', 'rhabdomyosarcoma', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'PAX3-FKHR fusion transcripts were positive in 3/7 and PAX 7-FKHR fusion transcripts were positive in 2/7 of ARMS patients, respectively, and were all negative in ERMS and Control tumors. '), ('5806', 'EWS_ERG', '', 'EWS', 'ERG', '11064357', '35', 'histiocytoma;soft tissue sarcoma', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Of the four cases of Ewing sarcoma, two had an EWS-FLI1 fusion transcript and one had an EWS-ERG fusion transcript. '), ('5807', 'SYT_SSX1', '', 'SYT', 'SSX1', '15735574', '35', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Molecular diagnosis of synovial sarcoma: RT-PCR detection of SYT-SSX1/2 fusion transcripts in paraffin-embedded tissue..     ///    \"Biphasic synovial sarcoma expressed the SYT-SSX1 fusion transcript, whereas the monophasic subtype expressed the SYT-SSX2 fusion transcript. \"    ///    The detection of SYT-SSX1/2 fusion transcripts by RT-PCR is a valuable diagnostic marker of synovial sarcoma which can be used for the reclassification of cases whose diagnosis is difficult by routine methods..     ///    We investigated the presence of SYT-SSX1/2 chimeric RNA in tumors from 7 patients. '), ('5808', 'PAX7_FKHR', '', 'PAX7', 'FKHR', '15500711', '35', 'leiomyosarcoma', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Four of the six cases of alveolar RMS had a PAX3/PAX7-FKHR fusion transcript.     ///    None of the 9 cases of embryonic and polymorphic RMS expressed PAX3/PAX7-FKHR. '), ('5809', 'FUS_CHOP', '', 'FUS', 'CHOP', '9676855', '35', 'liposarcoma', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Analysis of FUS-CHOP fusion transcripts in different types of soft tissue liposarcoma and their diagnostic implications..     ///    \"Furthermore, using FUS-CHOP fusion transcripts as targets in reverse transcription-PCR assays, we detected disseminated tumor cells in peripheral blood or bone marrow in 3 of 5 patients undergoing surgery for soft tissue liposarcoma.. \"    ///    \"Sequence analysis revealed four different FUS-CHOP fusion transcript variants, two of which have not been described before. \"    ///    \"Using a reverse transcription-PCR protocol, we determined the prevalence of FUS-CHOP fusion transcripts in a series of liposarcoma samples. \"'), ('5810', 'HMGA2_RAD51L1', 't(2;12)(q31;q21) / / ', 'HMGA2', 'RAD51L1', '11746973', '35', '', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Cumulative dosage effect of a RAD51L1/HMGA2 fusion and RAD51L1 loss in a case of pseudo-Meigs\' syndrome.    ///    Cumulative dosage effect of a RAD51L1/HMGA2 fusion and RAD51L1 loss in a case of pseudo-Meigs\' syndrome.. '), ('5811', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '17478383', '35', 'dermatofibrosarcoma protuberans;sarcoma\r\r', 'PCR', '', 'Oncogene', '', '', '', 'KB', '', 'In this study, we examined the COL1A1-PDGFB fusion transcripts using frozen specimens from three patients with DFSP. '), ('5812', 'SYT_SSX2', '', 'SYT', 'SSX2', '12004001', '35', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Only two of the cases studied harbored SYT-SSX1 and SYT-SSX2 fusion transcripts, respectively.     ///    RNA extracted from formalin-fixed paraffin-embedded tissue blocks was evaluated for the presence of SYT-SSX1 and SYT-SSX2 fusion transcripts by RT-PCR. '), ('5813', 'SYT_SSX2', '', 'SYT', 'SSX2', '15140553', '35', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Case 2 exhibited a biphasic synovial sarcoma of the mediastinum containing an SYT-SSX2 fusion transcript, which is a rare fusion type in biphasic synovial sarcomas of the limbs.     ///    We reviewed previous reports of thoracic synovial sarcomas containing an analysis of the SYT-SSX fusion transcript and found that case 2 in the present study was the first description of a biphasic synovial sarcoma of the thorax with an SYT-SSX2 fusion transcript.     ///    \"However, the number of reported cases was not sufficient to conclude that SYT-SSX2 fusion in biphasic synovial sarcoma of the thorax is, indeed, rare. \"    ///    \" Synovial sarcoma (SS) is characterized by a chromosomal translocation resulting in the expression of an SYT-SSX chimeric transcript, usually SYT-SSX1 or SYT-SSX2. \"    ///    The presence of SYT-SSX2 chimeric transcripts was confirmed by reverse transcript polymerase chain reaction (RT-PCR) and a direct sequencing analysis in both cases. '), ('5814', 'FUS_ERG', 't(16;21)(p11;q22) / t(12;16)(q13;p11) / t(16;21)  / ', 'FUS', 'ERG', '7533529', '35', 'acute myeloid leukemia;liposarcoma;myeloid leukemia;leukemia;ewing sarcoma;sarcoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Using specific primers for the 5\' part of FUS and the 3\' part of ERG, we amplified a 4.4 kb genomic FUS/ERG DNA fragment from the leukemic sample.     ///    Blotting and hybridization with specific probes for FUS and ERG revealed that the amplified fragments consisted of FUS/ERG and ERG/FUS hybrid DNA. '), ('5815', 'SYT_SSX1', '', 'SYT', 'SSX1', '12004001', '35', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Only two of the cases studied harbored SYT-SSX1 and SYT-SSX2 fusion transcripts, respectively.     ///    RNA extracted from formalin-fixed paraffin-embedded tissue blocks was evaluated for the presence of SYT-SSX1 and SYT-SSX2 fusion transcripts by RT-PCR. '), ('5816', 'TFE3_ASPL', '', 'TFE3', 'ASPL', '15500711', '35', 'leiomyosarcoma', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Of the fourteen cases of ASPS, ten expressed ASPL-TFE3 fusion transcript. '), ('5817', 'EWS_ERG', '', 'EWS', 'ERG', '16157025', '35', 'small cell carcinoma;rhabdomyosarcoma;neuroectodermal tumor;desmoplastic small round cell tumor;ewing sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'To apply these molecular markers to commonly available archival materials, we evaluated the feasibility of detecting EWS-Ets including EWS-Fli1 and EWS-ERG fusion transcripts in paraffin-embedded tissues and its diagnostic value for detecting ES/pPNET.     ///    A nested reverse transcriptase-polymerase chain reaction (RT-PCR)-based assay was performed to detect the EWS-Fli1 and EWS-ERG fusion transcripts. '), ('5818', 'FUS_CHOP', '', 'FUS', 'CHOP', '11064357', '35', 'histiocytoma;soft tissue sarcoma', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'All nine myxoid liposarcomas were positive for FUS-CHOP fusion transcripts. '), ('5819', 'TEL_AML1', '', 'TEL', 'AML1', '8751464', '35', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Our results elucidated the incidence, lineage-specificity, and variant forms of TEL/AML1 fusion transcripts in childhood ALL.     ///    Detection and quantification of TEL/AML1 fusion transcripts by polymerase chain reaction in childhood acute lymphoblastic leukemia..     ///    \"Since the percentage of other chromosomal translocations in childhood ALL is not more than 5%, TEL/AML1 transcript would be the most feasible clone-specific marker for these patients. \"    ///    \" We investigated TEL/AML1 fusion mRNA in 108 children with acute lymphoblastic leukemia (ALL) (86 B-lineage ALL, 15 T-ALL, two mixed lineage ALL, and five other phenotypes) using reverse transcriptase-polymerase chain reaction (RT-PCR). \"    ///    \"TEL/AML1 transcripts were found in 14 patients (13%) including three relapsed patients, and were unexceptionally limited to B-lineage ALL patients. \"    ///    The reciprocal AML1/TEL transcripts were detected in 12 (86%) of the 14 cases expressing a TEL/AML1 transcript.     ///    The incidence of TEL/AML1 transcripts among B-lineage ALL was 16% (14/86).     ///    \"In addition, our method could be a powerful tool for quantification of the TEL/AML1 transcript and for the detection of MRD.. \"    ///    \"To evaluate the amount of TEL/AML1 molecules for the quantification of a minimal residual disease (MRD), a plasmid vector which contained either a long TEL/AML1 PCR product (464 bp) or a short one (425 bp) was used as a competitor. \"'), ('5820', 'PAX7_PAX3', 't(2;13)(q35;q14) / t(1;13)(p36;q14) / ', 'PAX7', 'PAX3', '11607823', '35', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Therefore, these translocations alter biological activity at the levels of protein function, gene expression, and subcellular localization with the cumulative outcome postulated to be aberrant regulation of PAX3/PAX7 target genes.     ///    This increased function results from the insensitivity of the FKHR activation domain to inhibitory effects of N-terminal PAX3/PAX7 domains.     ///    \"The fusion proteins, which contain the PAX3/PAX7 DNA binding domain and the FKHR transcriptional activation domain, activate transcription from PAX-binding sites with higher potency than the corresponding wild-type PAX proteins. \"'), ('5821', 'NUP98_HOXA9', '', 'NUP98', 'HOXA9', '15963848', '35', 'leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Translocations resulting in development of oncogenic fusion genes are found in AML and the transforming potential of two of these, AML1-ETO and NUP98-HOXA9, will be discussed. '), ('5822', 'SYT_SSX2', '', 'SYT', 'SSX2', '11487273', '35', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Twelve, 10 and 1 case carried the SYT-SSX1, SYT-SSX2 and SYT-SSX4 fusion transcript, respectively. '), ('5823', 'SYT_SSX4', '', 'SYT', 'SSX4', '11487273', '35', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Twelve, 10 and 1 case carried the SYT-SSX1, SYT-SSX2 and SYT-SSX4 fusion transcript, respectively. '), ('5824', 'ETO_AML1', '', 'ETO', 'AML1', '17883173', '35', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'RT-PCR was done for the AML1-ETO fusion transcript in all cases.     ///    \"Interestingly, 1/3 MDS cases were positive for the same fusion transcript and thus, it appears worthwhile to look for AML1-ETO in all cases of MDS with increased blasts. \"    ///    Objective morphological evaluation using a scoring system based on morphological features was not helpful in predicting positivity for AML1-ETO.     ///    AML1-ETO positive AML: first report from India..     ///    Overall incidence of AML1-ETO was 28.57% and no correlation was found between AML1-ETO positivity and clinical or hematological parameters except for a direct correlation with absolute blast count (ABC) (a lower ABC in the AML1-ETO positive cases). '), ('5825', 'EWSR1_ERG', '', 'EWSR1', 'ERG', '21987447', '35', 'osteosarcoma', 'PCR;ISH', '', '', '', '', '', 'KB', 'Seq', 'We report the case of a 12-year-old girl with multifocal small cell osteosarcoma positive for the Ewing sarcoma breakpoint region 1 (EWSR1) gene rearrangement by interphase fluorescent in situ hybridization and negative for EWSR1-FLI1, EWSR1-ERG, and EWSR1-WT1 fusion transcripts by reverse transcriptase PCR. '), ('5826', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '8826957', '35', 'rhabdomyosarcoma;sarcoma;hematologic malignancy\r\r', 'PCR', '', '', '', '', '', '', '', 'Molecular assays have been developed recently that detect the PAX3-FKHR or PAX7-FKHR fusion transcript resulting from the t(2.     ///    A reverse transcriptase-PCR assay was used to detect the presence of the PAX3-FKHR or PAX7-FKHR fusion transcript.     ///    \"In addition, PAX3-FKHR fusion products were detected in bone marrows from 2 patients for whom there was no histologic evidence of disease. \"'), ('5827', 'PAX7_FKHR', '', 'PAX7', 'FKHR', '8826957', '35', 'rhabdomyosarcoma;sarcoma;hematologic malignancy\r\r', 'PCR', '', '', '', '', '', '', '', 'A reverse transcriptase-PCR assay was used to detect the presence of the PAX3-FKHR or PAX7-FKHR fusion transcript.     ///    Molecular assays have been developed recently that detect the PAX3-FKHR or PAX7-FKHR fusion transcript resulting from the t(2. '), ('5828', 'FLI_EWS', '', 'FLI', 'EWS', '11261815', '35', 'neuroectodermal tumor\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'However, the reverse transcriptase-polymerase chain reaction (RT-PCR) demonstrated EWS/FLI-1 fusion transcripts, confirming the histopathologic diagnosis of PNET. '), ('5829', 'TEL_PDGFRB', '', 'TEL', 'PDGFRB', '22271894', '35', 'leukemia\r\r', '', 'Kinase', '', '', 'Receptor', '', '', '', ' ETV6-PDGFRB (also called TEL-PDGFRB) and FIP1L1-PDGFRA are receptor-tyrosine kinase fusion genes that cause chronic myeloid malignancies associated with hypereosinophilia.     ///    \"A mutant I?B that prevents nuclear translocation of nuclear factor-?B inhibited cell growth and the expression of eosinophil markers, such as the interleukin-5 receptor and eosinophil peroxidase, in progenitors transduced with ETV6-PDGFRB. \"    ///    ETV6-PDGFRB and FIP1L1-PDGFRA stimulate human hematopoietic progenitor cell proliferation and differentiation into eosinophils: the role of nuclear factor-?B..     ///    This model thus recapitulated key features of the myeloid neoplasms induced by ETV6-PDGFRB and FIP1L1-PDGFRA.     ///    We introduced ETV6-PDGFRB and FIP1L1-PDGFRA into human CD34(+) hematopoietic progenitor and stem cells isolated from umbilical cord blood. '), ('5830', 'SYT_SSX', '', 'SYT', 'SSX', '11854597', '35', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In this study, the authors describe a new real-time reverse transcriptase-polymerase chain reaction (RT-PCR) method to detect SYT/SSX fusion transcripts using paraffin-embedded and frozen tumor specimens. '), ('5831', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '22271894', '35', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' ETV6-PDGFRB (also called TEL-PDGFRB) and FIP1L1-PDGFRA are receptor-tyrosine kinase fusion genes that cause chronic myeloid malignancies associated with hypereosinophilia.     ///    ETV6-PDGFRB and FIP1L1-PDGFRA stimulate human hematopoietic progenitor cell proliferation and differentiation into eosinophils: the role of nuclear factor-?B..     ///    This model thus recapitulated key features of the myeloid neoplasms induced by ETV6-PDGFRB and FIP1L1-PDGFRA.     ///    We introduced ETV6-PDGFRB and FIP1L1-PDGFRA into human CD34(+) hematopoietic progenitor and stem cells isolated from umbilical cord blood. ');
INSERT INTO `ChimerPub_dump` VALUES ('5832', 'PAX7_FKHR', '', 'PAX7', 'FKHR', '20021942', '35', 'rhabdomyosarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'One-step RT-PCR was used to detect the expression of PAX3-FKHR and PAX7-FKHR fusion transcripts in 10 cases of alveolar rhabdomyosarcoma and in an ARMS cell line. '), ('5833', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '20021942', '35', 'rhabdomyosarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'One-step RT-PCR was used to detect the expression of PAX3-FKHR and PAX7-FKHR fusion transcripts in 10 cases of alveolar rhabdomyosarcoma and in an ARMS cell line. '), ('5834', 'NPM_ALK', '', 'NPM', 'ALK', '23598171', '35', 'non small cell lung cancer;anaplastic large cell lymphoma;small cell lu\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'We assessed ALK genomic status in tumour tissue and used quantitative RT-PCR to measure NPM-ALK fusion transcript in bone marrow and blood samples of patients with anaplastic large-cell lymphoma. '), ('5835', 'IGH_BCL2', '', 'IGH', 'BCL2', '8541563', '35', 'follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' The frequent occurrence of BCL2-IgH rearrangements in follicular lymphoma (FL) makes detection of low numbers of tumor cells possible by polymerase chain reaction (PCR).     ///    Detection of clonal CD34+19+ progenitors in bone marrow of BCL2-IgH-positive follicular lymphoma patients..     ///    \"These cells represented 0% to 50% (mean, 18%) of the total CD34+ population, suggesting that, if reinfusion of BCL2-IgH-positive cells plays a role in postautograft relapse in FL, therapeutic CD34 selection procedures should include additional purging of the CD34+19+ B-cell precursors or, at least, assessment of the proportion of CD19+ cells in the CD34+ fraction and its correlation with clinical outcome postreinfusion.. \"    ///    The presence of BCL2-IgH in the bone marrow (BM) and peripheral blood of many FL patients at the time of autografting has led to the suggestion that selection of the CD34-enriched fraction may lead to reinfusion of lower numbers of tumor cells.     ///    \"To address this issue, we PCR-amplified BCL2-IgH from fluorescence-activated cell sorting (FACS)-purified BM CD34+ and CD34- fractions in seven FL patients showing a PCR-detectable translocation in the major breakpoint region of BCL2, five of which showed morphological BM involvement. \"'), ('5836', 'WT1_EWSR1', '', 'WT1', 'EWSR1', '21987447', '35', 'osteosarcoma', 'PCR;ISH', '', '', '', '', '', 'KB', '', 'We report the case of a 12-year-old girl with multifocal small cell osteosarcoma positive for the Ewing sarcoma breakpoint region 1 (EWSR1) gene rearrangement by interphase fluorescent in situ hybridization and negative for EWSR1-FLI1, EWSR1-ERG, and EWSR1-WT1 fusion transcripts by reverse transcriptase PCR. '), ('5837', 'IG_BCL1', 't(11;14)  / t(14;18) / ', 'IG', 'BCL1', '14671650', '35', '', 'PCR', '', '', '', '', '', '', '', 'This has resulted in 107 different primers in only 18 multiplex PCR tubes: three VH-JH, two DH-JH, two Ig kappa (IGK), one Ig lambda (IGL), three TCR beta (TCRB), two TCR gamma (TCRG), one TCR delta (TCRD), three BCL1-Ig heavy chain (IGH), and one BCL2-IGH. '), ('5838', 'ETO_AML1', '', 'ETO', 'AML1', '15963848', '35', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Translocations resulting in development of oncogenic fusion genes are found in AML and the transforming potential of two of these, AML1-ETO and NUP98-HOXA9, will be discussed. '), ('5839', 'PAX7_PAX3', '', 'PAX7', 'PAX3', '15500711', '35', 'leiomyosarcoma', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Four of the six cases of alveolar RMS had a PAX3/PAX7-FKHR fusion transcript.     ///    None of the 9 cases of embryonic and polymorphic RMS expressed PAX3/PAX7-FKHR. '), ('5840', 'FUS_CHOP', '', 'FUS', 'CHOP', '22543255', '35', 'liposarcoma;sarcoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'A real time PCR based approach for the quantitative detection of FUS-CHOP fusion transcripts in human liposarcoma..     ///    \"Primer amplification and probe detection of FUS-CHOP from genomic DNA of human, mouse, cocker spaniel and chicken sources all resulted in completely negative results indicating this technique is specific for human RNA derived transcripts. \"    ///    This study was conducted to develop and evaluate a more sensitive platform than existing semi-quantitative approaches for detecting FUS-CHOP transcripts. '), ('5841', 'SYT_SSX', '', 'SYT', 'SSX', '11064357', '35', 'histiocytoma;soft tissue sarcoma', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Three cases with an initial diagnosis other than synovial sarcoma expressed a SYT-SSX fusion transcript.     ///    \"Of the 18 tumors diagnosed as synovial sarcoma, 17 (94%) expressed SYT-SSX chimeric transcripts. \"'), ('5842', 'ETO_AML1', 'inv(16)  / ', 'ETO', 'AML1', '7653231', '35', '', 'PCR', '', '', '', '', '', '', '', 'BCR/ABL in CML, PML/RAR-alfa in APL, AML1/ETO in t(8. '), ('5843', 'FUS_CHOP', 't(12;16)(q13;p11) / ', 'FUS', 'CHOP', '11162437', '34', 'liposarcoma', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The translocation results in the hybrid gene FUS/CHOP, where the central and C-terminal parts of FUS, coding for the RNA binding domain and the RGG triplet motif, are replaced by the full length CHOP protein.     ///    \"Thus, CHOP is under the control of the FUS promoter and the FUS/CHOP chimera contains the 5\'-terminal part of FUS which provides a transcriptional activation function. \"    ///    \"Although different structural variations of the FUS/CHOP chimeric transcript have been reported, none of them contains the parts of FUS encoding the RNA binding properties. \"    ///    A novel FUS/CHOP chimera in myxoid liposarcoma..     ///    We describe here a case of myxoid liposarcoma containing two novel FUS/CHOP chimeric transcripts and with the breakpoint occurring in intron 14 of FUS. '), ('5844', 'SYT_SSX1', 'p11.2;q11.2 / t(6;8) (q13-15;q11-13) / ', 'SYT', 'SSX1', '9378564', '34', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Establishment and characterization of a new synovial sarcoma cell line, SN-SY-1: special reference to bcl-2 protein and SYT-SSX1 hybrid transcripts..     ///    RT-PCR assay for chimeric SYT-SSX transcripts followed by digestion with restriction enzymes revealed SYT-SSX1 fusion protein. '), ('5845', 'NUP98_HOXA9', 't(7;11)(p15;p15) / ', 'NUP98', 'HOXA9', '8563754', '34', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'The predicted NUP98-HOXA9 fusion protein may promote leukaemogenesis through inhibition of HOXA9-mediated terminal differentiation and/or aberrant nucleocytoplasmic transport.. '), ('5846', 'TAF15_NR4A3', 't(9;17)  / t(9;22) / ', 'TAF15', 'NR4A3', '14708728', '34', 'chondrosarcoma;sarcoma\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Molecular genetic analysis revealed a TAF15/NR4A3 fusion, a characteristic rearrangement occurring in about 25% of cytogenetically investigated EMC.     ///    \"Molecular genetic analysis revealed a TAF15/NR4A3 fusion, a characteristic rearrangement occurring in about 25% of cytogenetically investigated EMC.\"'), ('5847', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '18335505', '34', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'ARMS is characterized by a frequent 2;13 chromosomal translocation that creates a PAX3-FKHR fusion transcription factor.     ///    \"MYCN was one notable neural-related transcription factor-encoding gene identified in this set, and its regulation by PAX3-FKHR was further confirmed at the RNA and protein levels. \"    ///    The findings of cycloheximide inhibition and time-course studies are consistent with the hypothesis that the PAX3-FKHR protein acts directly on the MYCN gene at the transcriptional level.     ///    Functional studies established that MYCN cooperates with PAX3-FKHR to enhance oncogenic activity.     ///    \"In conclusion, we identified a selected set of biologically relevant genes modulated by PAX3-FKHR, and demonstrated that PAX3-FKHR contributes to the expression of MYCN and in turn MYCN collaborates with PAX3-FKHR in tumorigenesis.. \"    ///    \"To identify downstream targets of PAX3-FKHR, we introduced an inducible form of PAX3-FKHR into human RD ERMS cells. \"'), ('5848', 'MLL_AFF1', 't(4;11)(q21;q23) / chr11:118354284 / chr4:87992070 / chr11:118359130-32 / chr4:87996215-17 / ', 'MLL', 'AFF1', '24310817', '34', 'leukemia\r\r', 'PCR', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'The breakpoint junction sequences revealed an insertion of two nucleotides at the MLL-AFF1 junction.     ///    This study further supports the evidence that MLL breakpoints in therapy-related acute leukemia with MLL-AFF1 are clustered in the telomeric half of the breakpoint cluster region that contains topo II recognition sites.. '), ('5849', 'PCM1_JAK2', 't(8;9)(p22;p24) / t(9;12)(p24;p13) / t(9;22)(p24;q11????2) / / ', 'PCM1', 'JAK2', '24913195', '34', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Should myeloid and lymphoid neoplasms with PCM1-JAK2 and other rearrangements of JAK2 be recognized as specific entities? Since the publication of the 2001 and 2008 World Health Organization classifications of tumours of haematopoietic and lymphoid tissues, there has been an increasing move towards classification of haematological neoplasms on the basis of the underlying molecular genetic disorder.    ///    Should myeloid and lymphoid neoplasms with PCM1-JAK2 and other rearrangements of JAK2 be recognized as specific entities?.     ///    PCM1-JAK2 fusion should be recognized as an entity. '), ('5850', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '21423212', '34', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Over 80% of aRMSs are characterized by a chromosomal translocation-derived fusion transcription factor PAX3-FKHR.     ///    Nephroblastoma overexpressed (NOV/CCN3) gene: a paired-domain-specific PAX3-FKHR transcription target that promotes survival and motility in alveolar rhabdomyosarcoma cells..     ///    \"Promoter, electrophoretic mobility shift assay and chromatin immunoprecipitation analyses confirmed that the CCN3 gene was a direct target for PAX3-FKHR transcriptional activation through a paired-domain DNA sequence in the first intron of the CCN3 gene. \"    ///    \"In this study, we linked elevated CCN3 levels in aRMS cells to PAX3-FKHR expression. \"    ///    \"We found reduced CCN3 levels in aRMS cells following small interfering RNA knockdown of PAX3-FKHR, and increased CCN3 levels in C2 myoblasts following ectopic expression of PAX3-FKHR. \"'), ('5851', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '1720570', '34', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Although leukemic cells with translocations characteristically express only one fusion product, both PML/RARA (on the 15q+ derivative chromosome) and RARA/PML (on the 17q- derivative) are transcribed.. '), ('5852', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '8180596', '34', 'leukemia\r\r', 'PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Appropriate oligoprimers complementary to PML and RAR-a sequences nearby the DNA breakpoints may be successfully used in PCR experiments to amplify the PML/RAR-a hybrid gene and sensitively detect minimal residual disease. '), ('5853', 'TRBV4-3_TRBJ1-3', '', 'TRBV4-3', 'TRBJ1-3', '21734237', '34', '', '', '', '', '', '', '', '', '', 'Particular KK10-specific CD8(+) T-cell clonotypes, characterized by TRBV4-3/TRBJ1-3 gene rearrangements, were found to be preferentially selected in vivo and shared between individuals. '), ('5854', 'MIR143_NOTCH', 't(1;5) / ', 'MIR143', 'NOTCH', '26504045', '34', 'glomus tumor', '', '', '', '', '', '', '', '', 'Recent molecular studies have identified microRNA 143-NOTCH fusions or NOTCH1-3 rearrangements in benign and malignant glomus tumors. '), ('5855', 'BCR_ABL1', '', 'BCR', 'ABL1', '20571941', '34', '', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' A nationwide study was started in 1993 to provide genetic diagnosis for all newly diagnosed childhood ALL cases in Hungary using cytogenetic examination, DNA-index determination, FISH (aneuploidy, ABL/BCR, TEL/AML1) and molecular genetic tests (ABL/BCR, MLL/AF4, TEL/AML1). '), ('5856', 'TEL_AML1', '', 'TEL', 'AML1', '20571941', '34', '', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', ' A nationwide study was started in 1993 to provide genetic diagnosis for all newly diagnosed childhood ALL cases in Hungary using cytogenetic examination, DNA-index determination, FISH (aneuploidy, ABL/BCR, TEL/AML1) and molecular genetic tests (ABL/BCR, MLL/AF4, TEL/AML1).     ///    \"Cytogenetic examination was performed in 537 (91%) (success rate 73%), DNA-index in 265 (45%), FISH in 74 (13%), TEL/AML1 RT-PCR in 219 (37%) cases producing genetic diagnosis in 457 patients (78%). \"'), ('5857', 'ETV6_AML1', 't(12;21) / ', 'ETV6', 'AML1', '15257702', '34', '', '', '', '', '', '', '', '', '', 'This unique case study demonstrates that ETV6/AML1 fusion and the associated complex chromosomal rearrangements occurred in utero.     ///    \"Identical twin girls, aged 4 years, developed ETV6/AML1-positive acute lymphoblastic leukaemia (ALL) within 3 months of one another. \"    ///    \"This is the first report of a complex cytogenetic clone, in association with an ETV6/AML1 fusion, developing in utero. \"'), ('5858', 'MYH11_CBFB', 'inv(16)  / ', 'MYH11', 'CBFB', '15370133', '34', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In three cytogenetically negative cases, RT-PCR detected cryptic CBF rearrangements (one AML1-ETO and two CBFB-MYH11).     ///    \" Our objective was to establish a multiplexed assay using the Biomed 1 primers to detect AML1-ETO transcripts and 10 different CBFB-MYH11 transcripts, using BCR and ABL transcripts as controls. \"'), ('5859', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '10702899', '34', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'RtPCR for the PML-RARA hybrid mRNA has become the hallmark of molecular diagnosis and molecular monitoring in APL. '), ('5860', 'CALM_AF10', 'inv(7)(p15q34) / t(7;7)(p15;q34) / ', 'CALM', 'AF10', '17039236', '34', 'T ALL\r\r', 'PCR', '', '', '', '', '', '', '', 'Other molecular and/or cytogenetic aberrations frequently found in subtypes of T-ALL (SIL-TAL1, CALM-AF10, HOX11, HOX11L2) were not detected in the TCRbeta-HOXA rearranged cases except for deletion 9p21 and NOTCH1 activating mutations, which were present in 64 and 67%, respectively. '), ('5861', 'RUNX1_ETV6', '9p21.3 / ', 'RUNX1', 'ETV6', '18275435', '34', 'T ALL\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Molecular cytogenetic and array comparative genomic hybridization results enabled the division of B-precursor ALL patients into five groups: high hyperdiploidy, intrachromosomal amplification of 21q, ETV6/RUNX1 rearrangement, others and no CNA. '), ('5862', 'BCL2_IG', '', 'BCL2', 'IG', '9665185', '34', 'non Hodgkin lymphoma;lymphoma;lymphoproliferative disorder;hematologic malignancy\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Because we had recently identified multiple bcl-2/Ig gene rearrangements in blood mononuclear cells of patients with PPBL, we sought evidence of this oncogene in this particular patient: bcl-2/Ig gene rearrangements were found in blood mononuclear cells but not in lymphoma cells. '), ('5863', 'MYH11_CBFB', 't(8;21)(q22;q22) / inv(16)(p13.1;q22) / t(16;16) / p13.1;q22 / ', 'MYH11', 'CBFB', '22145956', '34', 'acute myeloid leukemia;myeloid leukemia;leukemia;systemic mastocytosis\r\r', '', '', '', '', '', '', '', '', 'CBFB-MYH11 chromosomal rearrangements, but whether the mutation is indicative of associated SM is unclear. '), ('5864', 'BCR_ABL1', '19p13.11 / ', 'BCR', 'ABL1', '24813417', '34', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' To assess the presence of genetic imbalances in patients with myeloproliferative neoplasms (MPNs), 38 patients with chronic eosinophilia were studied by array comparative genomic hybridization (aCGH): seven had chronic myelogenous leukaemia (CML), BCR-ABL1 positive, nine patients had myeloproliferative neoplasia Ph- (MPN-Ph-), three had a myeloid neoplasm associated with a PDGFRA rearrangement, and the remaining two cases were Lymphoproliferative T neoplasms associated with eosinophilia. '), ('5865', 'ETO_AML1', 'inv(16)  / ', 'ETO', 'AML1', '15370133', '34', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' Our objective was to establish a multiplexed assay using the Biomed 1 primers to detect AML1-ETO transcripts and 10 different CBFB-MYH11 transcripts, using BCR and ABL transcripts as controls. '), ('5866', 'TAL1_SIL', 'inv(7)(p15q34) / t(7;7)(p15;q34) / ', 'TAL1', 'SIL', '17039236', '34', 'T ALL\r\r', 'PCR', '', '', '', '', 'Transcription_Factor', '', '', 'Other molecular and/or cytogenetic aberrations frequently found in subtypes of T-ALL (SIL-TAL1, CALM-AF10, HOX11, HOX11L2) were not detected in the TCRbeta-HOXA rearranged cases except for deletion 9p21 and NOTCH1 activating mutations, which were present in 64 and 67%, respectively. '), ('5867', 'SYT_SSX', '', 'SYT', 'SSX', '15662499', '34', 'synovial sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', '[Simultaneous analysis of t(X;18) by FISH- und SYT/SSX-RT-PCR in synovial sarcoma].. '), ('5868', 'SYT_SSX4', 'p11;q11 / ', 'SYT', 'SSX4', '11433527', '33', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'SYT/SSX1 was found in 40 tumors from 33 patients, SYT/SSX2 in 23 tumors from 20 patients, and SYT/SSX4 in one case.     ///    \"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. \"'), ('5869', 'PAX3_FOXO1', 't(2;13)  / ', 'PAX3', 'FOXO1', '24089019', '33', 'rhabdomyosarcoma;sarcoma\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'Importantly, both PAX3-FOXO1 RNA and protein could be detected in the samples of normal fetal muscle.     ///    \"When constantly expressed, PAX3-FOXO1 interfered with the muscle differentiation process, which presumably contributes to tumorigenesis.. \"    ///    \"Here, we show that a chimeric RNA, PAX3-FOXO1, identical to that found in alveolar rhabdomyosarcoma, is transiently present in cells undergoing differentiation from pluripotent cells into skeletal muscle. \"    ///    \"A chimeric fusion RNA, PAX3-FOXO1, associated with alveolar rhabdomyosarcoma, is also present in normal non-cancer cells and tissues. \"    ///    \"Here, we show that a chimeric RNA, PAX3-FOXO1, identical to that found in alveolar rhabdomyosarcoma, is transiently present in cells undergoing differentiation from pluripotent cells into skeletal muscle.\"'), ('5870', 'NPM_ALK', 't(2;5)  / ', 'NPM', 'ALK', '17086210', '33', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Identification of multiple SNT-binding sites on NPM-ALK oncoprotein and their involvement in cell transformation..     ///    NPM-ALK mutant protein mutated at these three binding sites showed significantly reduced transforming activity.     ///    \"This raises a possibility that SNT family proteins play significant roles in cellular transformation triggered by NPM-ALK, which though remains to be verified.. \"    ///    These observations indicate that the three SNT-binding sites of NPM-ALK are important for its transforming activity.     ///    Immunoprecipitation assay revealed that SNT-1 and SNT-2 interacted with NPM-ALK and kinase-negative NPM-ALK mutant.     ///    \"Y156, Y567 and a 19-amino-acid sequence (aa 631-649) of NPM-ALK were essential for this interaction. \"'), ('5871', 'BCL2_IGH', 't(14;18)(q32;q21) / ', 'BCL2', 'IGH', '16330451', '33', 'follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Variability of quantitative polymerase chain reaction detection of the bcl-2-IgH translocation in an international multicenter study.. '), ('5872', 'VCL_ALK', 't(2;10)(p23;q22) / ', 'VCL', 'ALK', '21213368', '33', 'medullary carcinoma', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'We demonstrate coprecipitation of strongly tyrosine phosphorylated talins with the VCL-ALK oncoprotein, suggesting that ALK oncogenic crossphosphorylation is mediated by interactions between neighboring VCL-ALK proteins on a talin scaffold.     ///    \"The resulting VCL-ALK fusion does not contain known self-association domains, but includes the talin binding domains of vinculin. \"'), ('5873', 'EWS_ERG', 't(11;22)(q24;q12) / t(21;22)(q22;q12) / t(11;22)(p13;q12) / t(2;13)(q35;q14) / t(1;13)(p36;q14) / p11;q11 / t(11;22)  / t(21;22)  / t(2;13)  / t(1;13)  / ', 'EWS', 'ERG', '9293447', '33', 'desmoplastic small round cell tumor', 'PCR;RT-PCR', '', '', '', '', '', '', '', '3 ETs were lacking EWS/FLI-1 or EWS-ERG fusion products. '), ('5874', 'RARA_PLZF', 't(15;17)  / t(11;17)  / ', 'RARA', 'PLZF', '7719245', '33', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'It has been shown that the PLZF-RAR alpha, like PML-RAR alpha, has a \"dominant negative\" effect on the wild-type RAR-RXR.     ///    The comparison of the biological activities mediated by PML-RAR alpha and PLZF-RAR alpha may give new insights into the pathogenesis as well as the mechanisms of ATRA-induced differentiation in APL.. '), ('5875', 'MLL_AF10', 't(10;11)(p12;q23) / t(10;11)(p12;q14) / ', 'MLL', 'AF10', '23138183', '33', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', '', '', '', '', '', '', '', '', 'Pretreatment with EPZ004777 profoundly decreased the in vivo spleen-colony-forming ability of MLL-AF10 or CALM-AF10 transformed bone marrow cells.     ///    Targeted disruption of Dot1l using a conditional knockout mouse model abolished in vitro transformation of murine bone marrow cells and in vivo initiation and maintenance of MLL-AF10 or CALM-AF10 leukemia.     ///    Abrogation of MLL-AF10 and CALM-AF10-mediated transformation through genetic inactivation or pharmacological inhibition of the H3K79 methyltransferase Dot1l..     ///    \"Here, we demonstrate that MLL-AF10 and CALM-AF10-mediated transformation is dependent on the H3K79 methyltransferase Dot1l using genetic and pharmacological approaches in mouse models. \"    ///    \"The treatment of MLL-AF10 and CALM-AF10 transformed cells with EPZ004777, a specific small-molecule inhibitor of Dot1l, suppressed expression of leukemogenic genes such as Hoxa cluster genes and Meis1, and selectively impaired proliferation of MLL-AF10 and CALM-AF10 transformed cells. \"'), ('5876', 'MECT1_MAML2', 't(11;19) / ', 'MECT1', 'MAML2', '21169736', '33', 'acinic cell carcinoma', '', '', '', '', '', '', '', '', 'p13) MECT1-MAML2 translocation may be an objective marker that can help to further stratify difficult cases. '), ('5877', 'CD5_CD20', 't(14;18)  / t(14;18) / ', 'CD5', 'CD20', '12399977', '33', 'follicular lymphoma;B cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Tumor cells were CD5(-) CD20(+) CD23(-) CD43(-) BCL-6(+), and in the main CD10 negative (n = 10, 71%) and BCL-2 negative (n = 11, 78%). '), ('5878', 'FLI_EWS', 't(11;22)(q24;q12) / t(21;22)(q22;q12) / t(11;22)(p13;q12) / t(2;13)(q35;q14) / t(1;13)(p36;q14) / p11;q11 / t(11;22)  / t(21;22)  / t(2;13)  / t(1;13)  / ', 'FLI', 'EWS', '9293447', '33', 'desmoplastic small round cell tumor', 'PCR;RT-PCR', '', '', '', '', '', '', '', '3 ETs were lacking EWS/FLI-1 or EWS-ERG fusion products. '), ('5879', 'HLXB9_ETV6', 't(7;12)(q36;p13) / t(7;12) / ', 'HLXB9', 'ETV6', '11454678', '33', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;ISH', '', '', '', '', '', '', '', 'However, reverse transcription-PCR for HLXB9-ETV6 demonstrated alternative splicing.     ///    The reciprocal ETV6-HLXB9 transcript was not detected.     ///    \"It remains to be elucidated if the leukemic phenotype is attributable to the formation of the HLXB9-ETV6 fusion protein, which includes the helix-loop-helix and E26 transformation-specific DNA binding domains of ETV6 or to the disruption of the normal ETV6 protein.. \"'), ('5880', 'RAMP_FGFR1', 't(8;13)(p11;q11-12) / ', 'RAMP', 'FGFR1', '9499416', '33', 'myeloproliferative disorder;non Hodgkin lymphoma;lymphoma\r\r', 'PCR;RT-PCR', 'Kinase', '', '', '', '', '', '', 'By analogy with these, we propose that the RAMP-FGFR1 fusion product will contribute to progression of this myeloproliferative disorder by constitutive activation of tyrosine kinase function.. '), ('5881', 'PDGFRB_PDGFRA', '', 'PDGFRB', 'PDGFRA', '15772698', '33', 'hypereosinophilic syndrome\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', 'Receptor', '', '', '', 'In the 29 patients without FIP1L1-PDGFRA, no activating mutation of PDGFRA/PDGFRB was detected. '), ('5882', 'TPR_MET', '', 'TPR', 'MET', '2300559', '33', 'osteosarcoma;sarcoma\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'To facilitate rapid screening of human cell lines and tumor samples for this specific gene rearrangement, we developed a sensitive detection method based on polymerase chain reaction (PCR) amplification of TPR-MET mRNA.     ///    TPR-MET oncogenic rearrangement: detection by polymerase chain reaction amplification of the transcript and expression in human tumor cell lines..     ///    A preliminary survey of cell lines derived from a variety of human tumors indicates that TPR-MET rearrangement occurred and was expressed at very low frequencies by cells from 7 of 14 tumors of nonhematopoietic origin..     ///    A 205-base-pair DNA fragment characteristic of the TPR-MET rearrangement was detected in cell lines previously known to contain this altered sequence. '), ('5883', 'FUT2_FUT1', '19p13.3 / ', 'FUT2', 'FUT1', '9269717', '33', '', '', '', '', '', '', '', '', '', 'Polymorphic genes FUT1-FUT2 and FUT3-FUT5-FUT6 are organized in two clusters and each gene is partially or totally inactivated by different types of point mutations (nonsense, missense and frame shift), complete gene deletion or a fusion gene. '), ('5884', 'CD43_BCL6', 't(14;18)  / t(14;18) / ', 'CD43', 'BCL6', '12399977', '33', 'follicular lymphoma;B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', '', '', '', 'Tumor cells were CD5(-) CD20(+) CD23(-) CD43(-) BCL-6(+), and in the main CD10 negative (n = 10, 71%) and BCL-2 negative (n = 11, 78%). '), ('5885', 'P15_P13', 'del(11p)  / del(11) / ', 'P15', 'P13', '2790823', '33', 'laryngeal cancer', '', '', '', '', '', '', '', '', 'The subline, which carried the del(11)(p13-p15.1), also failed to express the E7 antigen mapped to the band 11p13. '), ('5886', 'NPM_ALK', 't(2;5)(p23;q35) / inv(2)(p21;p23) / ', 'NPM', 'ALK', '25727400', '33', 'non small cell lung cancer;anaplastic large cell lymphoma;small cell lu\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Activity of second-generation ALK inhibitors against crizotinib-resistant mutants in an NPM-ALK model compared to EML4-ALK.. '), ('5887', 'SYT_SSX', 'p11.2;q11.2 / ', 'SYT', 'SSX', '7951320', '33', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Sequencing of cDNA clones shows that the normal SYT gene encodes a protein rich in glutamine, proline and glycine, and indicates that in synovial sarcoma rearrangement of the SYT gene results in the formation of an SYT-SSX fusion protein. '), ('5888', 'CCND1_CDK4', 't(11;14)(q13;q32) / ', 'CCND1', 'CDK4', '9001420', '33', 'neuroectodermal tumor;non Hodgkin Lymphoma', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Cyclin D1 was dominant among the D-type cyclins, formed abundant complexes with cyclin-dependent kinase (Cdk) Cdk4 rather than Cdk6, and the immunoprecipitated cyclin D1/Cdk4 holoenzyme was active as a pRB kinase. '), ('5889', 'P210_P190', 't(9;22) / ', 'P210', 'P190', '18426313', '33', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In contrast to other reports, we did not see any co-expression of p210/p190. '), ('5890', 'IL3RA_CSF2RA', 't(1;19) / ', 'IL3RA', 'CSF2RA', '20699438', '33', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'frequent deletion of EBF1, IKZF1, RAG1-2, and IL3RA-CSF2RA. '), ('5891', 'MYH11_CBFB', 'inv(16)(p13q22) / t(16;16)(p13;q22) / inv(16)  / t(16;16) / inv(16)(p13q24) / ', 'MYH11', 'CBFB', '8142642', '33', 'leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In this study we have examined a series of 37 of these cases using reverse transcriptase-polymerase chain reaction (RT-PCR) to detect expression of a hybrid CBFB/MYH11 transcript. '), ('5892', 'EBP_C/EBP', 't(12;16)(q13;p11) / t(12;16) / t(12;16)  / t(12;14) (q14-15;q23-24) / ', 'EBP', 'C/EBP', '1283316', '33', 'liposarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', 'We have used Southern blot technique to test whether a gene of the CCAAT/enhancer binding protein (C/EBP) family, CHOP, which maps to 12q13 and is assumed to be involved in adipocyte differentiation, could be the 12q gene in question. '), ('5893', 'MLL_EB1', '', 'MLL', 'EB1', '15751040', '33', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'The presence of the MLL-EB1 and the reciprocal EB1-MLL fusion transcripts was verified by reverse-transcription PCR.     ///    The genomic break junctions of MLL-EB1 and EB1-MLL were amplified by long-distance PCR.     ///    Immunofluorescence staining demonstrated that the MLL-EB1 fusion proteins were localized in the nuclei.. '), ('5894', 'RARA_NPM', 't(15;17)  / ', 'RARA', 'NPM', '17988991', '33', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'These findings suggest that ATRA can be used to treat APL patients with NPM/RAR as well as APL with PML/RAR..     ///    We describe a 64-year-old man with NPM-RAR-positive APL who was receiving hemodialysis therapy for chronic uremia.     ///    Successful all-trans retinoic acid treatment of acute promyelocytic leukemia in a patient with NPM/RAR fusion.. '), ('5895', 'NUT_BRD4', '19p13.3 / 19p13.13 / ', 'NUT', 'BRD4', '25982285', '33', 'lung cancer\r\r', '', 'Kinase', '', '', '', '', 'KB', '', 'Gene aberrations include translocation t(15, 19) (q13, p13.1) fusion oncogene BRD4-NUT, DNA repair genes (ERCC1, ERCC2, XRCC1), TGF?1 pathway activation genes (TGFB1, LTBP4), Dyrk1B, and potential oncogenesis protector genes such as NFkB pathway inhibition genes (NFKBIB, PPP1R13L) and EGLN2. '), ('5896', 'CD43_CD23', 't(14;18)  / t(14;18) / ', 'CD43', 'CD23', '12399977', '33', 'follicular lymphoma;B cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Tumor cells were CD5(-) CD20(+) CD23(-) CD43(-) BCL-6(+), and in the main CD10 negative (n = 10, 71%) and BCL-2 negative (n = 11, 78%). '), ('5897', 'DRT_DMC', '', 'DRT', 'DMC', '16115817', '33', '', '', '', '', '', '', '', '', '', 'We found that approximately 10% of inter-chromosomal translocations induced by two distinct mechanisms, site-specific recombination mediated by Cre or non-homologous end joining of DNA double-strand breaks induced by I-Sce1, result in DRT/DMC.     ///    \"Finally, we show that the engineered DRT/DMC chromosomes acquire gross chromosomal rearrangements at an increased rate when compared with non-DRT/DMC chromosomes. \"    ///    \"Because chromosomes with DRT/DMC are common in tumor cells and in cells exposed to ionizing radiation, we propose that DRT/DMC represents a common mechanism responsible for the genomic instability found in cancer cells and for the persistent chromosomal instability associated with cells exposed to ionizing radiation.. \"    ///    We have developed a chromosome engineering strategy that allows the generation of chromosomes with this DRT/DMC phenotype.     ///    These results indicate that the DRT/DMC phenotype is not the result of a stochastic process that could occur at any translocation breakpoint or as an epigenetic response to chromosome damage. '), ('5898', 'CALM_AF10', 't(10;11)(p12;q23) / t(10;11)(p12;q14) / ', 'CALM', 'AF10', '23138183', '33', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', '', '', '', '', '', '', '', '', 'The treatment of MLL-AF10 and CALM-AF10 transformed cells with EPZ004777, a specific small-molecule inhibitor of Dot1l, suppressed expression of leukemogenic genes such as Hoxa cluster genes and Meis1, and selectively impaired proliferation of MLL-AF10 and CALM-AF10 transformed cells.     ///    Targeted disruption of Dot1l using a conditional knockout mouse model abolished in vitro transformation of murine bone marrow cells and in vivo initiation and maintenance of MLL-AF10 or CALM-AF10 leukemia.     ///    Pretreatment with EPZ004777 profoundly decreased the in vivo spleen-colony-forming ability of MLL-AF10 or CALM-AF10 transformed bone marrow cells. '), ('5899', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '24370018', '33', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'In primary bone marrow cells of acute myeloid leukemia containing AML1-ETO, levels of BCL-2 mRNA were markedly lower as compared with other acute myeloid leukemias lacking this translocation.     ///    \"The results indicated that in U937-A/E cells but not in U937-WT or U937-Mock cells, apoptotic cells statistically significantly increased, and AML1-ETO expression also significantly enhanced activation of caspase-3. \"    ///    It is concluded that BCL-2 is the direct target gene of AML1-ETO.     ///    AML1-ETO can down-regulate the expression of BCL-2.     ///    The chromatin immunoprecipitation (ChIP)-based PCR was used to investigate the direct interaction between the AML1-ETO and BCL-2 promoter in AML1-ETO positive leukemia cell line.     ///     This study was aimed to investigate the effect of AML1-ETO fusion protein on the anti-apoptotic gene BCL-2 in leukemic cells and to explore its role in leukemogenesis.     ///    [Effect of AML1-ETO fusion protein on the expression of BCL-2].. '), ('5900', 'AF5Q31_AF4', 't(2;11)(p15;p14) / t(4;11)(q21;q23) / ', 'AF5Q31', 'AF4', '12203795', '33', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'Our findings further suggest that fusion of MLL to one of the AF4 family members (AF4/LAF4/AF5Q31) might determine a proB-cell phenotype in infant leukemia.. '), ('5901', 'IGH_BCL3', 't(14;19)(q32;q13) / t(14;19) / t(14;19)  / del(6q) / t(8;22)  / del(13q) / ', 'IGH', 'BCL3', '12153169', '33', 'non Hodgkin lymphoma;leukemia;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Southern analysis and long distance PCR confirmed BCL3/IgH Calpha translocation in one case.     ///    Bcl-3/IgH translocation (14;19)(q32;q13) in non-Hodgkin\'s lymphomas.. '), ('5902', 'IG_BCL2', 't(14;18)  / ', 'IG', 'BCL2', '7632929', '33', 'peripheral T cell lymphoma', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Bcl-2-Ig transgenic mice develop follicular hyperplasia and progress to malignant B-cell lymphoma. '), ('5903', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '17431412', '32', 'dermatofibrosarcoma protuberans;sarcoma\r\r', 'PCR', '', 'Oncogene', '', '', '', 'KB', '', 'Detection of COL1A1-PDGFB fusion transcripts and PDGFB/PDGFRB mRNA expression in dermatofibrosarcoma protuberans..     ///    A reverse transcription-polymerase chain reaction assay was performed to detect the COL1A1-PDGFB fusion transcripts in 57 samples.     ///    \"These results indicate that the fusion protein, which is processed by the COL1A1-PDGFB transcripts, can serve as a functional ligand for PDGFRB.. \"'), ('5904', 'PRCC_TFE3', '', 'PRCC', 'TFE3', '24716915', '32', 'renal cell carcinoma\r\r', 'PCR', '', '', '', '', '', 'KB', '', 'Evidence of antiproliferative effect, PRCC-TFE3 fusion transcript inhibition and static BAX level clearly indicate that AR extract provides or elicits an apoptosis independent anticancer effect on RCC cells by some specific mechanism of regulation..    ///    In addition PRCC-TFE3 fusion transcripts were detected by real time PCR.     ///    \"Evidence of antiproliferative effect, PRCC-TFE3 fusion transcript inhibition and static BAX level clearly indicate that AR extract provides or elicits an apoptosis independent anticancer effect on RCC cells by some specific mechanism of regulation.. \"    ///    Antitumor activity of the permissible doses of the extract was assessed by the down regulation of PRCC-TFE3 fusion transcript (38%) responsible for oncogenicity of the UOK146 cell line. '), ('5905', 'RSPO2_EIF3E', '', 'RSPO2', 'EIF3E', '24847761', '32', 'colorectal cancer;lung cancer\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In this study, we examined 75 primary CRCs and 121 primary lung cancers in the Japanese population for EIF3E-RSPO2 and PTPRK-RSPO3 fusion transcripts using RT-PCR and subsequent sequencing analyses.     ///    \"Two CRCs contained EIF3E-RSPO2 fusion transcripts, and another CRC contained PTPRK-RSPO3 fusion transcripts. \"    ///    \"Interestingly, in one of the two EIF3E-RSPO2 fusion-positive CRCs, a novel fusion variant form of EIF3E-RSPO2 was identified: exon 1 of EIF3E was connected to exon 2 of RSPO2 by a 351-bp insertion.\"    ///    \"Although the expression of EIF3E-RSPO2 and PTPRK-RSPO3 was not detected in any of the lung carcinomas, RSPO fusions were detected in three (4%) of the 75 CRCs. \"    ///    \"Interestingly, in one of the two EIF3E-RSPO2 fusion-positive CRCs, a novel fusion variant form of EIF3E-RSPO2 was identified: exon 1 of EIF3E was connected to exon 2 of RSPO2 by a 351-bp insertion. \"'), ('5906', 'PAX7_FKHR', '', 'PAX7', 'FKHR', '15630526', '32', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Standard reverse transcriptase-polymerase chain reaction performed on RNA isolated from frozen sections showed 1 ARMS with a positivity for PAX3-FKHR with four patients classified as having ARMS and 1 as having spindle cell RMS were negative for both ARMS fusion transcripts (PAX3- and PAX7-FKHR). '), ('5907', 'TFE3_ASPSCR1', '', 'TFE3', 'ASPSCR1', '18094412', '32', 'alveolar soft part sarcoma;sarcoma\r\r', 'PCR', '', 'Oncogene', '', '', '', 'KB', '', 'RNA extracted from available fresh-frozen and formalin-fixed paraffin-embedded human ASPS tumors were analyzed for ASPSCR1-TFE3 fusion transcript expression using reverse transcription-PCR and by angiogenesis oligomicroarrays with immunohistochemical confirmation.     ///    ASPSCR1-TFE3 fusion transcripts were identified in 16 of 18 ASPS samples. '), ('5908', 'TLS_CHOP', 't(12;16)(q13;p11) / ', 'TLS', 'CHOP', '7805034', '32', 'liposarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'A variant TLS-CHOP RNA transcript was detected by polymerase chain reaction but did not correlate with clinicopathological data. '), ('5909', 'SYT_SSX2', '', 'SYT', 'SSX2', '10685632', '32', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Three tumors had SYT-SSX2 fusion transcripts, whereas 19 had SYT-SSX1 phenotype. '), ('5910', 'SYT_SSX1', 'p11;q11 / ', 'SYT', 'SSX1', '7495284', '32', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', '19 cases were positive for SYT-SSX1 and 10 for SYT-SSX2. '), ('5911', 'ETV4_CANT1', '', 'ETV4', 'CANT1', '18451133', '32', 'prostate cancer\r\r', '', '', '', '', '', '', '', '', 'In this study, we report two novel ETV4 fusion genes in prostate cancer: KLK2-ETV4 and CANT1-ETV4.     ///    \"Although wild-type CANT1 has two alternative first exons (exons 1 and 1a), only exon 1a was detected in CANT1-ETV4 fusion transcripts. \"'), ('5912', 'NFIB_MYB', 't(6;9)(q22-23;p23-24) / ', 'NFIB', 'MYB', '19841262', '32', 'adenoid cystic carcinoma\r\r', '', '', '', '', '', '', 'KB', '', 'We suggest that deletion of these target sites may disrupt repression of MYB leading to overexpression of MYB-NFIB transcripts and protein and to activation of critical MYB targets, including genes associated with apoptosis, cell cycle control, cell growth/angiogenesis, and cell adhesion.     ///    Our findings also suggest that the gain-of-function activity resulting from the MYB-NFIB fusion is a candidate therapeutic target..     ///    Our data indicate that the MYB-NFIB fusion is a hallmark of ACC and that deregulation of the expression of MYB and its target genes is a key oncogenic event in the pathogenesis of ACC. '), ('5913', 'MECT1_MAML2', 't(11;19)(q21;p13) / t(11;19)  / ', 'MECT1', 'MAML2', '12539049', '32', 'mucoepidermoid carcinoma\r\r', '', '', '', '', '', '', '', '', 'In contrast, MECT1-MAML2 activated transcription of the Notch target gene HES1 independently of both Notch ligand and CSL binding sites.     ///    \"MECT1-MAML2 induced foci formation in RK3E epithelial cells, confirming a biological effect for the fusion product. \"'), ('5914', 'TFG_ALK', '', 'TFG', 'ALK', '18242762', '32', 'non small cell lung cancer;adenocarcinoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'To elucidate the role of fusions between ALK and other genes in pulmonary carcinogenesis, we examined 77 non-small cell lung carcinomas (NSCLCs) for EML4-, NPM-, TPM3-, CLTC-, ATIC-, and TFG-ALK fusion transcripts by RT-PCR and subsequent sequencing analysis.     ///    \"Although no expression of NPM-, TPM3-, CLTC-, ATIC-, or TFG-ALK fusion transcripts were detected in any of the cases, expression of EML4-ALK fusion transcripts was detected in two (2.6%) of the 77 NSCLCs. \"    ///    \"EML4-ALK fusion transcripts, but no NPM-, TPM3-, CLTC-, ATIC-, or TFG-ALK fusion transcripts, in non-small cell lung carcinomas.. \"'), ('5915', 'MAML2_CRTC1', '', 'MAML2', 'CRTC1', '17437281', '32', 'adenoid cystic carcinoma;adenocarcinoma;mucoepidermoid carcinoma\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', ' We analyzed 55 primary salivary gland tumors including 22 mucoepidermoid carcinomas (MECs) to determine the association of MECT1/TORC1/CRTC1-MAML2 fusion transcript to tumor types, level of MEC differentiation and clinicopathologic parameters.     ///    CRTC1/MAML2 fusion transcript in high grade mucoepidermoid carcinomas of salivary and thyroid glands and Warthin\'s tumors: implications for histogenesis and biologic behavior..     ///    \"We conclude that the CRTC1/MAML2 transcript may be detected in both low and high grade MEC, that fusion negative tumors may define a subset of biologically aggressive MEC\'s tumors, that the fusion is present in primary MECs of the thyroid gland and is also detectable in Warthin\'s tumor, and that a subset of MECs can be targeted for therapeutic intervention.. \"'), ('5916', 'SYT_SSX1', 'p11.2;q11.2 / ', 'SYT', 'SSX1', '15338724', '32', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Moreover, clinical correlations have demonstrated that SYT-SSX1 leads to a poor clinical outcome while the fusion SYT-SSX2 provides survival advantages to the patients.. '), ('5917', 'TLS_CHOP', '', 'TLS', 'CHOP', '17252290', '32', 'liposarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Eleven (84%) of 13 cases tested by RT-PCR demonstrated a type II TLS-CHOP fusion transcript.     ///    \"These findings suggest that MLS has a high incidence of osseous metastases, with predilection to spine, and often associated with the most common type of TLS-CHOP transcript. \"'), ('5918', 'SYT_SSX2', 'p11.2;q11.2 / ', 'SYT', 'SSX2', '15338724', '32', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Moreover, clinical correlations have demonstrated that SYT-SSX1 leads to a poor clinical outcome while the fusion SYT-SSX2 provides survival advantages to the patients.. '), ('5919', 'TEL_AML1', 't(12;21)(p13;q22) / ', 'TEL', 'AML1', '11001911', '32', 'acute myeloid leukemia;myeloid leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The interaction between TEL and N-CoR requires the central region of TEL, which is retained in TEL-AML1, and TEL lacking this domain is impaired in transcriptional repression.     ///    \"Although AML1 stimulates transcription, TEL-AML1 functions as a repressor of some AML1 target genes. \"    ///    \"Taken together, our results suggest that TEL-AML1 may contribute to leukemogenesis by recruiting N-CoR to AML1 target genes and thus imposing an altered pattern of their expression.. \"    ///    \"In contrast to the wild type AML1 protein, both TEL and TEL-AML1 interact with N-CoR, a component of the nuclear receptor corepressor complex with histone deacetylase activity. \"    ///    Recruitment of the nuclear receptor corepressor N-CoR by the TEL moiety of the childhood leukemia-associated TEL-AML1 oncoprotein.. '), ('5920', 'SYT_SSX', '', 'SYT', 'SSX', '16056249', '32', 'malignant peripheral nerve sheath tumors', '', '', '', '', '', '', '', '', 'The histological diagnosis of these cases was confirmed by the presence or absence of synovial sarcoma specific SYT-SSX fusion transcript analyzed by real-time reverse transcription polymerase chain reaction. '), ('5921', 'STAT6_NAB2', '', 'STAT6', 'NAB2', '24427361', '32', 'solitary fibrous tumor\r\r', 'RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Furthermore, NAB2-STAT6 fusion transcripts were detected by reverse-transcriptase polymerase chain reaction in both conventional and high-grade components, supporting the concept of a dedifferentiation process in this tumor..     ///    \"Furthermore, NAB2-STAT6 fusion transcripts were detected by reverse-transcriptase polymerase chain reaction in both conventional and high-grade components, supporting the concept of a dedifferentiation process in this tumor..\"'), ('5922', 'TACC3_FGFR3', '', 'TACC3', 'FGFR3', '25609060', '32', '', 'PCR;RT-PCR', 'Kinase', '', '', '', '', '', '', 'The two patients with FGFR3-TACC3 rearrangements who received JNJ-42756493 manifested clinical improvement with stable disease and minor response, respectively.     ///    Three of 85 IDH1/2 wild-type (3.5%) but none of 126 IDH1/2-mutant grade II and III gliomas harbored FGFR3-TACC3 fusions.    ///    JNJ-42756493 inhibited growth of glioma cells harboring FGFR3-TACC3 in vitro and in vivo.     ///    FGFR3-TACC3 fusions were associated with strong and homogeneous FGFR3 immunostaining.     ///    FGFR3-TACC3 fusions are associated with uniform intratumor expression of the fusion protein.    ///    FGFR3-TACC3 fusions are associated with uniform intratumor expression of the fusion protein. '), ('5923', 'MLL_ELL', 't(11;19)  / ', 'MLL', 'ELL', '8639852', '32', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', 'Seq', '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. '), ('5924', 'MLL_ENL', 't(11;19)  / ', 'MLL', 'ENL', '11526240', '32', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', 'PCR', '', '', '', '', '', '', '', 'At the first detection of MLL-ENL, the only topoisomerase II inhibitors the patient had received were one dose of daunorubicin and two doses of etoposide.     ///    \"The MLL-ENL fusion was not detectable in blood at the time of ALL diagnosis or after 0.7, 2, 8, 10, and 12 months of therapy but was detectable in blood at 16 months (one in 2.3 x 10(4) cells). \"    ///    We used PCR with patient-specific genomic primers to establish the emergence of the MLL-ENL fusion in serially obtained DNA samples.     ///    The MLL-ENL fusion was not detectable in bone marrow at the time of ALL diagnosis or after 2 months of chemotherapy (frequency <8.3 x 10(-7) cells(-1)).     ///    The MLL-ENL and the reciprocal ENL-MLL genomic fusions and their chimeric transcripts were characterized from samples collected at the time of t-AML diagnosis. '), ('5925', 'NUT_BRD4', 't(15;19) / ', 'NUT', 'BRD4', '15994877', '32', 'lung cancer;sarcoma\r\r', 'PCR;RT-PCR', 'Kinase', '', '', '', '', 'KB', '', 'However, we also found that the Brd4-NUT fusion augments the inhibition of progression to S phase compared with wild type Brd4.     ///    \"Alteration in cell cycle kinetics is important in tumorigenesis, although the exact role of Brd4-NUT fusion protein in the pathogenesis of lung cancers remains unclear and need to be further elucidated.. \"'), ('5926', 'RUNX1T1_RUNX1', 't(8;16)(p11;p13) / ', 'RUNX1T1', 'RUNX1', '16849538', '32', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'MYST3-CREBBP cases clustered together and clearly differentiated from samples with PML-RARalpha, RUNX1-RUNX1T1, and CBFbeta-MYH11 rearrangements. '), ('5927', 'ETO_AML1', '', 'ETO', 'AML1', '22811791', '32', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The aim of the present study is to note the incidence of common fusion transcripts of AML1-ETO, PML-RARA and CBF?-MYH11 in adult and pediatric AML cases.     ///    \"Of the 28 positive adult cases, 14/96 (14.58%) were positive for AML1-ETO, 12/96 (12.5%) for PML-RARA and 2/96 (2.08%) for CBF?-MYH11. \"    ///    \"In the 11 positive pediatric cases, 6/20 (30%) were positive for AML1-ETO, 3/20 (15%) for PML-RARA and 2/20 (10%) for CBF?-MYH11. \"'), ('5928', 'TEL_AML1', '', 'TEL', 'AML1', '10942253', '32', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Quantitative analysis of TEL/AML1 fusion transcripts by real-time RT-PCR assay in childhood acute lymphoblastic leukemia.. '), ('5929', 'PAX7_FKHR', '', 'PAX7', 'FKHR', '16365729', '32', 'rhabdomyosarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Furthermore, the fusion transcript PAX7/FKHR was identified in 2 of 15 patients with RMS classified as embryonal by histology.     ///    We have performed the RT-PCR assay to analyze RMS for the presence of expression of MyoD1 gene and for the presence of chimeric transcripts PAX3/FKHR or PAX7/FKHR. '), ('5930', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23561577', '32', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'We identified the TMPRSS2-ERG rearrangement associated 3-Mbp deletion on chromosome 21 and found corresponding fusion plasma fragments in these cases. '), ('5931', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '25982135', '32', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Of those tested, ETV6-RUNX1 translocation was detected in 13.2%, while BCR-ABL1 translocation and MLL gene rearrangements were seen in 7.3% and 4.6%, respectively. '), ('5932', 'ETO_AML1', '', 'ETO', 'AML1', '22952097', '32', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', '8 patients expressed the fusion transcript PML/RAR? AML1/ETO and 15 CBF?/MYH11.     ///    \"First, we determined the correct lineage assignment of the blast cells and evaluated the incidence of the favourable PML/RAR?, AML1/ETO, CBF?/MYH11 genetic markers among the AML cases. \"'), ('5933', 'ETO_AML1', 't(15;17) / t(8;21)  / inv(16)  / del(9q)  / inv(16) / ', 'ETO', 'AML1', '9609531', '32', '', '', '', '', '', '', '', '', '', 'A study to determine whether trisomy 8, deleted 9q and trisomy 22 are markers of cryptic rearrangements of PML/RARalpha, AML1/ETO and CBFB/MYH11 respectively in acute myeloid leukaemia. '), ('5934', 'BCR_ABL1', '', 'BCR', 'ABL1', '9858221', '32', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Patients with CML in blast crisis, or with Philadelphia positive acute lymphoblastic leukaemia (ALL), can have a smaller BCR-ABL fusion transcript possessing only the first exon of BCR fused to ABL. '), ('5935', 'SYT_SSX', '', 'SYT', 'SSX', '12649331', '32', 'malignant peripheral nerve sheath tumor\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Lack of SYT-SSX fusion transcripts in malignant peripheral nerve sheath tumors on RT-PCR analysis of 34 archival cases, by Tamborini E., et al.. '), ('5936', 'RED1_NFI', '', 'RED1', 'NFI', '1828294', '32', '', '', '', '', '', '', '', '', '', 'Cotransfection of one of the three NF-I proteins purified from bovine brain, NF-I/Red1, together with a proenkephalin/bacterial chloramphenicol acetyl transferase (CAT) fusion gene repressed protein kinase A or forskolin stimulated CAT expression.. '), ('5937', 'RARA_PL', 't(15;17)  / ', 'RARA', 'PL', '10553020', '32', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', ' The development of a rapid and simple reverse-transcription polymerase chain reaction (RT-PCR) assay is described that identifies the promyelocytic leukemia- retinoic acid receptor alpha (PML-RARa) hybrid messenger RNA (mRNA), a characteristic feature of acute promyelocytic leukemia (APL). '), ('5938', 'PAX7_FKHR', 't(2;13)  / t(1;13)  / ', 'PAX7', 'FKHR', '10197585', '32', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'In addition to functional alterations, our studies demonstrated PAX3-FKHR and PAX7-FKHR overexpression resulting from two distinct mechanisms, increased transcription of PAX3-FKHR by a copy number-independent mechanism, and gene amplification of PAX7-FKHR.     ///    \"These differences extend to the phenotypic level, at which clinical differences have been found between the two ARMS subtypes: PAX7-FKHR tumors more often occur as localized lesions in the extremities of younger patients and are associated with longer event-free survival as compared to PAX3-FKHR tumors. \"'), ('5939', 'PAX3_FKHR', 't(2;13)  / t(1;13)  / ', 'PAX3', 'FKHR', '10197585', '32', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'In addition to functional alterations, our studies demonstrated PAX3-FKHR and PAX7-FKHR overexpression resulting from two distinct mechanisms, increased transcription of PAX3-FKHR by a copy number-independent mechanism, and gene amplification of PAX7-FKHR.     ///    \"In transfection studies, the PAX3-FKHR fusion activates transcription of reporter genes containing PAX DNA-binding sites, and is 10-100-fold more potent as a transcriptional activator than is wild-type PAX3. \"    ///    \"These differences extend to the phenotypic level, at which clinical differences have been found between the two ARMS subtypes: PAX7-FKHR tumors more often occur as localized lesions in the extremities of younger patients and are associated with longer event-free survival as compared to PAX3-FKHR tumors. \"'), ('5940', 'SYT_SSX', '', 'SYT', 'SSX', '12150740', '32', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'To investigate the specificity of the SYT-SSX fusion transcripts, a variety of non-synovial sarcoma tumors were included in the study as negative controls.     ///     To assess the feasibility of detecting SYT-SSX fusion transcripts in paraffin-embedded tissues of synovial sarcoma by reverse transcription-polymerase chain reaction (RT-PCR).     ///    SYT-SSX fusion transcripts were detected in 33 of 37 (89.2%) synovial sarcomas.     ///    RT-PCR was used to amplify the SYT-SSX fusion transcripts using archival formalin-fixed paraffin-embedded tumor specimens from a series of 37 synovial sarcoma cases.     ///    \"None of the 34 cases of non-synovial sarcoma tumors showed amplified products of SYT-SSX fusion transcripts, although PBGD mRNA was detected in all specimens. \"    ///    Detection of SYT-SSX fusion transcripts in paraffin-embedded tissues of synovial sarcoma by reverse transcription-polymerase chain reaction..     ///    There was a significant relationship between SYT-SSX fusion type and histologic subtype.     ///    There is an association between SYT-SSX fusion type and histological subtype. '), ('5941', 'PRKDC_CPQ', '', 'PRKDC', 'CPQ', '26689674', '32', 'endometrial cancer', 'PCR;RT-PCR', 'Kinase', '', '', '', 'Transcription_Factor', '', '', 'Quantitative real-time RT-PCR demonstrated that the expression of the CPQ-PRKDC fusion transcript was significantly lower than that of wild-type PRKDC, corresponding to a low transcript allele fraction of this fusion, based on RNA-sequencing read counts.     ///    \"In endometrial cancers, the CPQ-PRKDC fusion transcript may be a passenger aberration related to gene amplification. \"    ///    Cell proliferation of the fusion-positive cell line was inhibited by knocking down the expression of wild-type PRKDC but not by blocking the CPQ-PRKDC fusion transcript expression.     ///    We detected only CPQ-PRKDC fusion transcript in three of 122 primary endometrial cancer tissues.     ///    \"As targetable fusion candidates, we focused on three in-frame kinase fusion transcripts that retain a kinase domain (CPQ-PRKDC, CAPZA2-MET, and VGLL4-PRKG1). \"'), ('5942', 'FAS_ER', '', 'FAS', 'ER', '11018265', '32', 'bladder cancer\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Unexpectedly, a novel fatty acid synthase (FAS)/ER-alpha fusion transcript was identified, in which the N-terminus of FAS was fused in-frame with the C-terminus of ER-alpha. '), ('5943', 'BCR_ABL1', '', 'BCR', 'ABL1', '24389534', '32', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Detection and quantification of BCR-ABL1 fusion transcripts by droplet digital PCR..     ///     Monitoring BCR-ABL1 fusion transcripts by real-time quantitative RT-PCR has become an important clinical test for the management of patients with chronic myeloid leukemia.     ///    We expect the advantages of droplet digital RT-PCR will make it the preferred method for quantification of BCR-ABL1 fusion transcripts. '), ('5944', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '18709984', '32', 'leukemia;sarcoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The FIP1L1-PDGFRA fusion transcript was not detected by RT-PCR analysis. '), ('5945', 'SYT_SSX1', '', 'SYT', 'SSX1', '23564530', '32', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'A molecular analysis using RT-PCR indicated that the patient was positive for the SYT/SSX1 fusion transcript. '), ('5946', 'MALT1_API2', '', 'MALT1', 'API2', '19060847', '32', 'B cell lymphoma;lymphoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'API2/MALT1 fusion transcripts were found in two of nine cases (22%).     ///    \"For methylation analyses, 7 independent CpG islands (p15, p16, DAP kinase, hMLH1, MINT1, MINT2, and MINT31) were examined and RT-PCR for detection of API2/MALT1 fusion transcripts were performed in 15 colorectal marginal zone B-cell lymphoma of MALT in a single institution. \"    ///    \"In two cases with concurrent gastric and colorectal involvement of marginal zone B-cell lymphoma of MALT, methylation patterns and API2/MALT1 fusion results were different by location. \"    ///    Methylation and API2/MALT1 fusion in colorectal extranodal marginal zone lymphoma..     ///    \"For this purpose, methylation profiles and API2/MALT1 fusion in marginal zone B-cell lymphoma of MALT in the colorectum were studied and compared with treatment outcomes. \"'), ('5947', 'BCR_ABL1', '', 'BCR', 'ABL1', '25982135', '32', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Of those tested, ETV6-RUNX1 translocation was detected in 13.2%, while BCR-ABL1 translocation and MLL gene rearrangements were seen in 7.3% and 4.6%, respectively. '), ('5948', 'TSC2_PKD1', '', 'TSC2', 'PKD1', '17185137', '32', 'chylous ascites;end stage renal disease', 'PCR', '', '', 'Tumor_suppressor', '', '', '', '', 'Gross genomic rearrangement involving the TSC2-PKD1 contiguous deletion syndrome: characterization of the deletion event by quantitative polymerase chain reaction deletion assay..     ///    qPCR confirmed the existence of a TSC2-PKD1 contiguous gene deletion spanning the entire TSC2 and PKD1 genes. '), ('5949', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '19152679', '32', 'prostate cancer;leukemia\r\r', '', '', '', '', '', '', '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. '), ('5950', 'IL6_IL10', '', 'IL6', 'IL10', '26859131', '32', 'intermediate uveitis', '', '', '', '', '', '', '', '', 'However, cytokine analysis demonstrating increased interleukin 10 (IL 10) levels or increased IL-10:IL-6 ratio in the aqueous or vitreous, flow cytometry demonstrating a monoclonal cell population, molecular analysis demonstrating gene rearrangements or translocations or combinations of several techniques can be used effectively to aid in diagnosis. '), ('5951', 'PHF1_MEAF6', '', 'PHF1', 'MEAF6', '26732302', '32', 'osteosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'It is now established that OFMTs represent translocation-associated tumors, with up to 85% associated with recurrent gene rearrangements, mostly involving the PHF1 gene (including in typical, atypical, and malignant neoplasms), with EP400-PHF1 in approximately 40% of tumors, and ZC3H7B-BCOR, MEAF6-PHF1, and EPC1-PHF1 fusions also described. '), ('5952', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '24763514', '32', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' 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).     ///    \"The cells having the C-terminal PDGFRA portion of FIP1L1-PDGFRA, however, were partially IL-3 dependent, whereas the cells having the full-length FIP1L1-PDGFRA became completely IL-3 independent for their growth. \"    ///    \"Moreover, when either the full-length or the C-terminal PDGFRA portion of FIP1L1-PDGFRA was introduced in these cells, they grew in the absence of IL-3. \"    ///    \"Both the full-length and the C-terminal PDGFRA portion of FIP1L1-PDGFRA could transform the IL-3-dependent hematopoietic cell line, BAF-B03. \"    ///    \"However, in FIP1L1-PDGFRA, the C-terminal PDGFRA portion possesses the ability of forming a homodimer by itself, making FIP1L1 dispensable for constitutive activation of this kinase. \"    ///    FIP1L1 presence in FIP1L1-RARA or FIP1L1-PDGFRA differentially contributes to the pathogenesis of distinct types of leukemia.. '), ('5953', 'PICALM_MLL', 't(9;22)(q34;q11) / t(9;22) / t(10;11)(p13;q14) / ', 'PICALM', 'MLL', '16518848', '32', 'acute myeloid leukemia', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'We also identified overexpression of HOXA9, a gene essential to myeloid differentiation that is expressed in PICALM-MLLT10 and MLL-rearranged acute leukemias. '), ('5954', 'FGFR3_BAIAP2L1', '', 'FGFR3', 'BAIAP2L1', '24452392', '32', 'squamous cell carcinoma;lung cancer\r\r', 'PCR;RT-PCR', 'Kinase', '', '', '', '', 'KB', '', 'Although the expression of FGFR3-TACC3 and FGFR3-BAIAP2L1 fusion transcripts was not detected in any of the carcinomas, somatic FGFR3 mutations were detected in two (0.9%) LCs.     ///    We also examined 190 LCs for the FGFR3-TACC3 and FGFR3-BAIAP2L1 fusion transcripts using reverse transcription-polymerase chain reaction (RT-PCR) analysis. '), ('5955', 'NUP98_HOXA9', 't(7;11)  / ', 'NUP98', 'HOXA9', '12082612', '32', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', ' The association between acute myeloid leukaemia (AML) and the aberrant expression of Hoxa9 is evidenced by (1) proviral activation of Hoxa9 and Meis1 in BXH-2 murine AML, (2) formation of the chimeric Nup98-HoxA9 transactivator protein as a consequence of the t(7;11) translocation in human AML, and (3) the strong expression of HoxA9 and Meis1 in human AML.     ///    \"Here we report that Nup98-HoxA9, indeed mimicks Hoxa9 plus Meis1 coexpression - it immortalizes myeloid progenitors, prevents differentiation in response to GM-CSF, IL-3, G-CSF, and permits proliferation in SCF. \"    ///    \"Using Hoxa9(-/-) marrow, we demonstrate that expression of Hoxa9 is not required for myeloid immortalization by Nup98-HoxA9. \"    ///    \"Because Meis1 binds N-terminal Hoxa9 sequences that are replaced by Nup98, we hypothesized that Nup98-HoxA9 might consolidate the biochemical functions of both Hoxa9 and Meis1 on target gene promoters and might evoke their same lymphokine-responsive profile in immortalized progenitors. \"    ///    \"Rapid leukaemogenesis by Nup98-HoxA9 may therefore result from both the intrinsic functions of Nup98-HoxA9, as well as of those of coexpressed HOX and MEIS1 genes.. \"    ///    \"Unexpectedly, however, Nup98-Hoxa9 also enforced strong transcription of the cellular Hoxa9, Hoxa7 and Meis1 genes at levels similar to those found in mouse AML\'s generated by proviral activation of Hoxa9 and Meis1. \"    ///    \"Nup98-HoxA9 immortalizes myeloid progenitors, enforces expression of Hoxa9, Hoxa7 and Meis1, and alters cytokine-specific responses in a manner similar to that induced by retroviral co-expression of Hoxa9 and Meis1.. \"    ///    \"In contrast, retroviral expression of Nup98-HoxA9 is sufficient to cause rapid AML in the absence of enforced Meis1 expression. \"');
INSERT INTO `ChimerPub_dump` VALUES ('5956', 'ALL1_AF4', '', 'ALL1', 'AF4', '15318246', '32', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Retrospective comparison of qualitative and quantitative reverse transcriptase polymerase chain reaction in diagnosing and monitoring the ALL1-AF4 fusion transcript in patients with acute lymphoblastic leukaemia..     ///     We compared quantitative reverse transcriptase polymerase chain reaction (Q-RT-PCR) to qualitative RT-PCR in determining response to therapy and predicting clinical outcome in 18 retrospectively selected patients with ALL positive for the ALL1-AF4 fusion and with frozen RNA samples collected at diagnosis and during follow-up (96 samples analysed).     ///    \"The ALL1-AF4 junction was detected by qualitative RT-PCR in 18 patients and by Q-RT-PCR in 17 patients (one patient harboured the rare e10-e6 ALL1-AF4 junction, which falls outside of the primer and probe location designed for the Q-RT-PCR). \"    ///    \"In three of the 12 patients negative to qualitative RT-PCR after induction therapy, a small number of ALL1-AF4 copies was detected by Q-RT-PCR. \"'), ('5957', 'CCNB3_BCOR', '', 'CCNB3', 'BCOR', '26037154', '32', 'ewing sarcoma;osteosarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'The three patients with immunohistochemically CCNB3-positive tumors were all male, aged between 11 and 17, and confirmed to have the BCOR-CCNB3 fusion transcript by RT-PCR.     ///    We herein retrospectively collected clinicopathologic data on BCOR-CCNB3 sarcoma in the Kyoto University Hospital over the last 10 years.     ///     BCOR-CCNB3 sarcoma is a recently recognized tumor morphologically and clinically simulating Ewing sarcoma.     ///    These results demonstrated that the application of CCNB3 immunostaining was useful for differentiating BCOR-CCNB3 from a group of \'Ewing-like sarcomas\' and may contribute to the evaluation of treatment strategies for bone sarcomas.     ///    Screening of BCOR-CCNB3 sarcoma using immunohistochemistry for CCNB3: A clinicopathological report of three pediatric cases.. '), ('5958', 'SYT_SSX1', '', 'SYT', 'SSX1', '21491161', '32', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'RT-PCR analysis showed the presence of SYT-SSX1 fusion transcript. '), ('5959', 'PAX7_FKHR', '', 'PAX7', 'FKHR', '11216714', '32', 'desmoplastic small round cell tumor', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'RT-PCR assays for the EWS-FLII, EWS-ERG, PAX3-FKHR, PAX7-FKHR, and EWS-WTI fusion transcripts were performed on RNA extracted from the primary tumor tissue, bone marrow, and body fluids obtained at initial presentation and relapse. '), ('5960', 'TEL_AML1', '', 'TEL', 'AML1', '11801462', '32', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Rapid quantitative detection of TEL-AML1 fusion transcripts in pediatric acute lymphoblastic leukemia by real-time reverse transcription polymerase chain reaction using fluorescently labeled probes..     ///    \"Most of the patients who achieved complete remission after 5-6 months of initial treatment were TEL-AML1 negative, although some positive samples with negligible amounts of TEL-AML1 transcripts were still detected. \"    ///    TEL-AML1 expression was normalized relative to the levels of AML1 transcripts.     ///    The sensitivity attained allowed the detection of TEL-AML1 transcripts at a 10-4 dilution of a cDNA sample from a patient at diagnosis.     ///    Levels of TEL-AML1 transcript and the TEL-AML1/AML1 ratio decreased by more than four log units (p <0.001) during or after the course of initial treatment.     ///     We report a new real-time reverse transcription polymerase chain reaction (RT-PCR) method for quantification of TEL-AML1 transcripts.     ///    Standard curves were prepared using serial dilutions of plasmids with TEL-AML1 or AML1 inserts.     ///    The within-assay coefficient of variation (CV) for TEL-AML1 was 7.0% and the between-assay CV was 13%. '), ('5961', 'TTLL11_NDE1', 't(9;17) / 16p13.1 / t(9;17)  / ', 'TTLL11', 'NDE1', '21302349', '32', '', '', '', '', '', '', '', '', '', 'We hypothesize that concomitant TTLL11-NDE1 deregulation may increase mutation load, among others, also on the DISC1 pathway, which could contribute to disease pathogenesis through multiple effects on neuronal development, synaptic plasticity, and neurotransmission. '), ('5962', 'PPAR_PAX8', '', 'PPAR', 'PAX8', '14500358', '32', '', '', '', '', '', 'Receptor', '', '', '', 'Recent identification of a PAX8-peroxisome proliferator-activated receptor gamma (PPARgamma) fusion gene in human thyroid follicular carcinoma suggests a tumor suppressor role of PPARgamma in thyroid carcinogenesis. '), ('5963', 'Immunoglobulin _BCL2', '', 'Immunoglobulin ', 'BCL2', '9414302', '32', 'non Hodgkin lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'To accurately measure the number of non-Hodgkin\'s lymphoma (NHL) cells harboring the bcl-2/immunoglobulin H (IgH) rearrangement in progenitor cell grafts, we developed a nested quantitative competitive polymerase chain reaction assay (QC-PCR). '), ('5964', 'Immunoglobulin _BCL2', 't(14;18)  / ', 'Immunoglobulin ', 'BCL2', '2649247', '32', 'follicular lymphoma;B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'bcl-2-immunoglobulin transgenic mice demonstrate extended B cell survival and follicular lymphoproliferation.. '), ('5965', 'FAS_ER', '', 'FAS', 'ER', '11018265', '32', 'bladder cancer\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Identification of a novel FAS/ER-alpha fusion transcript expressed in human cancer cells..     ///    The existence of the FAS/ER-alpha transcript was further confirmed by RT-PCR analysis using various sets of amplification primers and different reverse-transcribed primers in the presence of dimethyl sulfoxide to eliminate the secondary structure of RNA.     ///    The predicted FAS/ER-alpha protein would contain largely domain I of FAS and the entire ligand binding domain of ER-alpha.     ///    \"The FAS/ER-alpha was expressed in a variety of human cancer cell lines including prostate, breast, cervical and bladder cancer cell lines. \"    ///    Our data suggest that the presence of FAS/ER-alpha may complicate the FAS and the ER-alpha signalling pathway.. '), ('5966', 'PPP2R2C_COL1A1', '', 'PPP2R2C', 'COL1A1', '25576648', '32', 'colorectal cancer\r\r', '', '', '', '', '', '', '', '', 'Additionally, COL1A1-PPP2R2C and EXPH5-COL1A2 were observed fusion genes in cancer tissue. '), ('5967', 'NCOA2_HEY1', '', 'NCOA2', 'HEY1', '24124145', '32', 'chondrosarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', 'HEY1-NCOA2 fusion transcript was detected in all six cases of mesenchymal chondrosarcoma but in none of the meningeal HPC cases (0/11) that were evaluable with RT-PCR.     ///    \"Thirteen mesenchymal chondrosarcomas and 18 meningeal HPCs were identified from surgical pathology archives, and the tumors were evaluated for HEY1-NCOA2 fusion with reverse transcriptase-polymerase chain reaction (RT-PCR). \"    ///    \"These results show that (1) meningeal HPC and mesenchymal chondrosarcoma are distinct at the molecular level, and (2) the identification of HEY1-NCOA2 can be used as an auxiliary diagnostic tool to differentiate these entities.. \"    ///    \"Recently, a novel HEY1-NCOA2 fusion was reported as a recurrent event in mesenchymal chondrosarcomas. \"    ///    Are meningeal hemangiopericytoma and mesenchymal chondrosarcoma the same?: a study of HEY1-NCOA2 fusion.. '), ('5968', 'SYT_SSX', '', 'SYT', 'SSX', '14989495', '32', 'synovial sarcoma;solitary fibrous tumor;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The reverse transcriptase-polymerase chain reaction (RT-PCR), using RNA extracted from fresh-frozen tissue, demonstrated SYT/SSX-1 fusion transcripts, confirming the diagnosis of synovial sarcoma. '), ('5969', 'FUS_CHOP', '', 'FUS', 'CHOP', '10605700', '32', 'fatty tumor;lipoblastoma', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'RT-PCR assay for TLS/FUS-CHOP fusion transcripts was negative despite three repeat tests performed on paraffin sections of the primary tumor in the presence of good m-RNA internal controls. '), ('5970', 'SLC1A2_APIP', '', 'SLC1A2', 'APIP', '25576211', '32', 'colorectal cancer;gastric cancer;lung cancer;adenocarcinoma;colon cancer\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Although the expression of both types of SLC1A2 fusion transcripts was not detected in any of the NSCLCs, the expression of CD44-SLC1A2, but not the APIP-SLC1A2 fusion transcript, was detected in one (1.1 %) CRC.     ///    \"In the present study, we examined 90 primary CRCs and 112 primary non-small cell lung cancers (NSCLCs) for CD44-SLC1A2 and APIP-SLC1A2 fusion transcripts using RT-PCR and subsequent sequencing analyses. \"    ///    \" A CD44-SLC1A2 fusion has recently been discovered in a subset of primary gastric cancers, and an APIP-SLC1A2 fusion has been described in a colon cancer cell line (SNU-C1). \"'), ('5971', 'FLI_EWS', '', 'FLI', 'EWS', '9167704', '32', 'neuroectodermal tumor;ewing sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Sequence analysis of the resulting PCR fragments revealed EWS/FLI-1 fusion transcriptions of varying length.     ///    \"To investigate the usefulness of reverse transcriptase polymerase chain reaction (RT-PCR) as an ancillary method for cytodiagnosis, we tested archival aspirates derived from ES patients to establish whether any beta-actin RNA expression or tumor-specific EWS/FLI-1 gene translocation had occurred. \"'), ('5972', 'EWS_ERG', '', 'EWS', 'ERG', '20231617', '32', 'neuroblastoma', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The detection of the EWS-FLI1 (20/25) and EWS-ERG (4/25) fusion transcripts resolved 24 of 25 cases of Ewing sarcoma/PNET. '), ('5973', 'RSPO3_PTPRK', '', 'RSPO3', 'PTPRK', '24847761', '32', 'colorectal cancer;lung cancer\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Two CRCs contained EIF3E-RSPO2 fusion transcripts, and another CRC contained PTPRK-RSPO3 fusion transcripts.     ///    \"In this study, we examined 75 primary CRCs and 121 primary lung cancers in the Japanese population for EIF3E-RSPO2 and PTPRK-RSPO3 fusion transcripts using RT-PCR and subsequent sequencing analyses. \"    ///    \"Although the expression of EIF3E-RSPO2 and PTPRK-RSPO3 was not detected in any of the lung carcinomas, RSPO fusions were detected in three (4%) of the 75 CRCs. \"'), ('5974', 'PDGFRB_PDGFB', '', 'PDGFRB', 'PDGFB', '17431412', '32', 'dermatofibrosarcoma protuberans;sarcoma\r\r', 'PCR', 'Kinase', 'Oncogene', '', 'Receptor', '', '', '', 'Detection of COL1A1-PDGFB fusion transcripts and PDGFB/PDGFRB mRNA expression in dermatofibrosarcoma protuberans..     ///    \"In addition, the PDGFB gene amplification and PDGFB/PDGFRB mRNA levels were quantified by a real-time PCR system for the samples in which the fusion transcripts had been successfully detected. \"'), ('5975', 'HS3_HS2', '', 'HS3', 'HS2', '21797698', '32', 'thalassemia\r\r', 'PCR', '', '', '', '', '', '', '', 'Interestingly, a 197 bp insertion of two inverted sequences issued from the HS2-HS3 inter-region is present and suggests a complex rearrangement during replication. '), ('5976', 'PHF1_EP400', '', 'PHF1', 'EP400', '26732302', '32', 'osteosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'It is now established that OFMTs represent translocation-associated tumors, with up to 85% associated with recurrent gene rearrangements, mostly involving the PHF1 gene (including in typical, atypical, and malignant neoplasms), with EP400-PHF1 in approximately 40% of tumors, and ZC3H7B-BCOR, MEAF6-PHF1, and EPC1-PHF1 fusions also described. '), ('5977', 'RARA_PML', '', 'RARA', 'PML', '22811791', '32', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The aim of the present study is to note the incidence of common fusion transcripts of AML1-ETO, PML-RARA and CBF?-MYH11 in adult and pediatric AML cases.     ///    \"Of the 28 positive adult cases, 14/96 (14.58%) were positive for AML1-ETO, 12/96 (12.5%) for PML-RARA and 2/96 (2.08%) for CBF?-MYH11. \"    ///    \"In the 11 positive pediatric cases, 6/20 (30%) were positive for AML1-ETO, 3/20 (15%) for PML-RARA and 2/20 (10%) for CBF?-MYH11. \"'), ('5978', 'TEL_AML1', '', 'TEL', 'AML1', '25919550', '32', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' To evaluate the efficiency of one-step multiplex RT-PCR for identifying four common fusion transcripts (TEL/AML1, E2A/PBX1, MLL/AF4 and BCR/ABL) in children with acute lymphoblastic leukemia (ALL).     ///    \"TEL/AML1 was found in 12 cases (the length of products was 298 bp in 9 cases and 259 bp in 3 cases), E2A/PBX1 was found in 3 cases (the length of products was 373 bp), BCR/ABL was found in 1 case (the length of products was 2?124 bp), and MLL/AF4 was found in 7 cases (the length of products was 427 bp in 1 case and 673 bp in 6 cases) using one-step multiplex RT-PCR combined with DNA sequencing. \"    ///    \"These RNAs were analyzed for TEL/AML1, E2A/PBX1, MLL/AF4 and BCR/ABL by one-step multiplex RT-PCR or common nested-multiplex PCR. \"'), ('5979', 'FLI_EWS', '', 'FLI', 'EWS', '9870143', '32', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'We evaluated 13 cases of pPNET with RT-PCR detected EWS/FLI-1 fusion transcript and 21 cases of PDSS for the immunohistochemical expression of CK7 and CK19. '), ('5980', 'TEL_AML1', '', 'TEL', 'AML1', '26264145', '32', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'This study was conducted to determine the frequency of common fusion transcripts BCR-ABL, TEL-AML1, MLL-AF4 and E2A-PBX1 for B-ALL and SIL-TAL1 for T-ALL as seen at a tertiary care center in India.     ///    \"In the B-ALL children, BCR-ABL was detected in 26/218 (11.9%), E2A-PBX1 in 13/218 (5.9%), TEL-AML1 in 16/218 (7.3%) and MLL-AF4 in 3/218 (1.4%) patients. \"    ///    \"The higher incidence of BCR-ABL and lower incidence of TEL-AML1 in our ALL patients, both in children and adults as compared with the West, suggests that patients in India may be biologically different. \"'), ('5981', 'SLC1A2_CD44', '', 'SLC1A2', 'CD44', '25576211', '32', 'colorectal cancer;gastric cancer;lung cancer;adenocarcinoma;colon cancer\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In the present study, we examined 90 primary CRCs and 112 primary non-small cell lung cancers (NSCLCs) for CD44-SLC1A2 and APIP-SLC1A2 fusion transcripts using RT-PCR and subsequent sequencing analyses.     ///    CD44-SLC1A2 fusion transcripts in primary colorectal cancer..     ///    \"The CD44-SLC1A2 fusion transcript was expressed in cancerous tissue but not in corresponding non-cancerous tissue, and the fusion occurred between exon 1 of CD44 and exon 2 of SLC1A2. \"    ///    \"Although the expression of both types of SLC1A2 fusion transcripts was not detected in any of the NSCLCs, the expression of CD44-SLC1A2, but not the APIP-SLC1A2 fusion transcript, was detected in one (1.1 %) CRC. \"    ///    \" A CD44-SLC1A2 fusion has recently been discovered in a subset of primary gastric cancers, and an APIP-SLC1A2 fusion has been described in a colon cancer cell line (SNU-C1). \"'), ('5982', 'BCL2_IG', '', 'BCL2', 'IG', '12516560', '32', '', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Abnormality of the B cell population was evidenced by the finding of multiple bcl-2/Ig gene rearrangements and an additional long-arm chromosome within a significant proportion of B cells. '), ('5983', 'FUS_CREB3L1', '', 'FUS', 'CREB3L1', '18637810', '32', 'sarcoma\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Surgical (incisional or excisional) biopsy or, alternatively, examination of RT-PCR for the FUS/CREB3L or FUS/CREB3L1 fusion transcripts may be necessary to obtain a correct diagnosis.. '), ('5984', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '12930690', '32', 'synovial sarcoma;rhabdomyosarcoma;ewing sarcoma;neuroblastoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'One-step RT-PCR were used to detect the expression of the PAX3-FKHR and PAX7-FKHR fusion transcripts in 15 cases of rhabdomyosarcoma (6 cases of ARMS, 9 cases of ERMS and 1 case of PRMS) and 15 cases of non-rhabdomyosarcomous small round cell tumor.     ///    Expression of PAX3-FKHR and PAX7-FKHR fusion transcripts detected by one-step RT-PCR is useful in diagnosis and classification of rhabdomyosarcoma..     ///    \"PAX3-FKHR and PAX7-FKHR fusion transcripts were positive in 3/6 and 1/6 of ARMS patients, respectively, and were all negative in ERMS, PRMS and Control tumors including 4 cases of synovial sarcoma,4 cases of Ewing\'s sarcoma,4 cases of lymphoma and 3 cases of neuroblastoma. \"    ///    \" To detect the PAX3-FKHR and PAX7-FKHR fusion transcripts in formalin-fixed, paraffin-embedded rhabdomyosarcoma tissues by one-step RT-PCR and discuss its diagnostic potential. \"'), ('5985', 'PAX7_FKHR', '', 'PAX7', 'FKHR', '12930690', '32', 'synovial sarcoma;rhabdomyosarcoma;ewing sarcoma;neuroblastoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' To detect the PAX3-FKHR and PAX7-FKHR fusion transcripts in formalin-fixed, paraffin-embedded rhabdomyosarcoma tissues by one-step RT-PCR and discuss its diagnostic potential.     ///    [Detection of PAX3/PAX7-FKHR fusion transcript in rhabdomyosarcoma by one-step RT-PCR]..     ///    \"One-step RT-PCR were used to detect the expression of the PAX3-FKHR and PAX7-FKHR fusion transcripts in 15 cases of rhabdomyosarcoma (6 cases of ARMS, 9 cases of ERMS and 1 case of PRMS) and 15 cases of non-rhabdomyosarcomous small round cell tumor. \"    ///    Expression of PAX3-FKHR and PAX7-FKHR fusion transcripts detected by one-step RT-PCR is useful in diagnosis and classification of rhabdomyosarcoma..     ///    \"PAX3-FKHR and PAX7-FKHR fusion transcripts were positive in 3/6 and 1/6 of ARMS patients, respectively, and were all negative in ERMS, PRMS and Control tumors including 4 cases of synovial sarcoma,4 cases of Ewing\'s sarcoma,4 cases of lymphoma and 3 cases of neuroblastoma. \"'), ('5986', 'RET_PTC1', '', 'RET', 'PTC1', '15680400', '32', 'cowden syndrome', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', '', '', 'The initial H4/PTEN rearrangement was discovered as a non-specific product of RT-PCR for RET/PTC1 in irradiated thyroid cell lines. '), ('5987', 'SYT_SSX', '', 'SYT', 'SSX', '16778340', '32', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The reverse transcriptase-polymerase chain reaction (RT-PCR), using RNA extracted from fresh-frozen tissue, demonstrated SYT/SSX-2 fusion transcripts, confirming the diagnosis of synovial sarcoma.. '), ('5988', 'BCR_ABL1', 't(9;22)  / ', 'BCR', 'ABL1', '22058195', '32', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Through fusion to BCR the ABL kinase in p185(BCR/ABL) and p210(BCR/ABL) \"escapes\" the auto-inhibition mechanisms of c-ABL, such as allosteric inhibition. '), ('5989', 'SYT_SSX', '', 'SYT', 'SSX', '22098598', '32', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The RT-PCR detection of SYT-SSX fusion transcripts played a key role in establishing the diagnosis of synovial sarcoma of the cauda equina.     ///    \"Reverse transcriptase polymerase chain reaction (RT-PCR) of a paraffin-embedded tissue sample revealed SYT-SSX fusion transcripts, and the diagnosis of synovial sarcoma was confirmed. \"'), ('5990', 'PAX3_FKHR', 't(2;13)(q35;q14) / t(1;13)(p36;q14) / ', 'PAX3', 'FKHR', '11607823', '32', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The PAX7-FKHR fusion is overexpressed as a result of in vivo amplification while the PAX3-FKHR fusion is overexpressed due to a copy number-independent increase in transcriptional rate.     ///    This juxtaposition generates PAX3-FKHR and PAX7-FKHR chimeric genes that are expressed as chimeric transcripts that encode chimeric proteins. '), ('5991', 'PAX7_FKHR', 't(2;13)(q35;q14) / t(1;13)(p36;q14) / ', 'PAX7', 'FKHR', '11607823', '32', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The PAX7-FKHR fusion is overexpressed as a result of in vivo amplification while the PAX3-FKHR fusion is overexpressed due to a copy number-independent increase in transcriptional rate.     ///    This juxtaposition generates PAX3-FKHR and PAX7-FKHR chimeric genes that are expressed as chimeric transcripts that encode chimeric proteins. '), ('5992', 'TFE3_RCC', '', 'TFE3', 'RCC', '24716915', '32', 'renal cell carcinoma\r\r', 'PCR', '', '', '', '', '', '', '', 'Evidence of antiproliferative effect, PRCC-TFE3 fusion transcript inhibition and static BAX level clearly indicate that AR extract provides or elicits an apoptosis independent anticancer effect on RCC cells by some specific mechanism of regulation.. '), ('5993', 'BCL2_IGH', '', 'BCL2', 'IGH', '9414302', '32', 'non Hodgkin lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The number of bcl-2/IgH rearranged cells in BM, PB, and mobilized PB (mPB) was found to vary from 1 to 1.1 x 10(5) per million cells.     ///    \"In conclusion, the QC-PCR assay described in this study could measure accurately and reproducibly the number of bcl-2/IgH rearranged cells among normal cells. \"    ///    \"In contrast, we found no difference in the concentration of bcl-2/IgH rearranged cells present in BM versus PB progenitor cells mobilized with cyclophosphamide and granulocyte colony-stimulating factor (G-CSF) (mPB) (P = .57). \"    ///    The kinetics of amplification of ICs paralleled those of bcl-2/IgH rearranged genomic DNA. '), ('5994', 'MLL_CDCREL1', 't(11;22) / ', 'MLL', 'CDCREL1', '11170279', '32', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Reverse transcriptase (RT)-polymerase chain reaction (PCR) followed by direct sequencing analysis revealed the MLL-CDCREL1 fusion transcript in his leukemic cells. '), ('5995', 'MYH11_CBFB', 't(15;17) / t(8;21)  / inv(16)  / del(9q)  / inv(16) / ', 'MYH11', 'CBFB', '9609531', '32', '', '', '', '', '', '', '', '', '', 'A study to determine whether trisomy 8, deleted 9q and trisomy 22 are markers of cryptic rearrangements of PML/RARalpha, AML1/ETO and CBFB/MYH11 respectively in acute myeloid leukaemia. '), ('5996', 'FLI_EWS', '', 'FLI', 'EWS', '9224742', '32', 'neuroectodermal tumor;neuroblastoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'This article reports three renal PNET that expressed EWS/FLI-1 fusion transcripts by RT-PCR, in addition to positive staining for MIC2 protein and neuron-specific enolase (NSE).     ///    EWS/FLI-1 fusion transcripts in three peripheral primitive neuroectodermal tumors of the kidney.. '), ('5997', 'SYT_SSX', '', 'SYT', 'SSX', '16547469', '32', 'synovial sarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', ' Synovial sarcomas are highly malignant tumors of soft tissue which are characterized by the t(X;18) resulting in SYT-SSX fusion transcript production.     ///    Identification of SYT-SSX transcripts from synovial sarcomas using RT-multiplex PCR and capillary electrophoresis..     ///    \"We have developed an assay, which combines one-step RT-multiplex PCR with capillary electrophoresis to detect and genotype the SYT-SSX transcripts from synovial sarcomas. \"    ///    Demonstration by molecular methods of SYT-SSX transcripts is a useful adjunct for diagnosis in these situations.     ///    One-step RT-multiplex PCR combined with capillary electrophoresis is a rapid and accurate method for the detection and genotypic classification of SYT-SSX transcripts from fixed tissue specimens.. '), ('5998', 'BCR_ABL1', '', 'BCR', 'ABL1', '20557306', '32', 'leukemia\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Treatment of CML with the tyrosine kinase inhibitor (TKI) imatinib mesylate results in the emergence of point mutations within the kinase domain (KD) of the BCR-ABL1 fusion transcript.     ///    The introduction of next-generation TKIs that can overcome the effects of some BCR-ABL1 KD mutations requires quantitative mutation profiling methods to assess responses. '), ('5999', 'PAX7_PAX3', '', 'PAX7', 'PAX3', '12930690', '32', 'synovial sarcoma;rhabdomyosarcoma;ewing sarcoma;neuroblastoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', '[Detection of PAX3/PAX7-FKHR fusion transcript in rhabdomyosarcoma by one-step RT-PCR].. '), ('6000', 'SYT_SSX', 'p11;q11 / ', 'SYT', 'SSX', '7495284', '32', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Of the 35 cases, 29 (83%) showed a specific SYT-SSX RT-PCR product, using a consensus primer for SSX1 and SSX2 Upon excluding three negative cases that had poor quality RNA, the proportion of positives rose to 91% (29/32).     ///    \"We performed a reverse transcriptase polymerase chain reaction (RT-PCR) assay for both chimeric SYT-SSX transcripts in a series of 35 SS (29 monophasic, 6 biphasic) to assess its usefulness in molecular diagnosis and to evaluate the incidence of molecular variants. \"    ///    \"The breakpoints of the t(X;18) have been cloned and shown to involve two novel genes, SSX (at Xp11) and SYT (at 18q11), which produce a chimeric SYT-SSX transcript as a result of the translocation. \"'), ('6001', 'NPM_ALK', 't(2;5)  / t(2;5) (p23;q35) / t(2;5) / ', 'NPM', 'ALK', '7527617', '32', 'anaplastic large cell lymphoma;lymphoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Using control samples, the sensitivity of the NPM-ALK RT-PCR assay was shown to be at least 1:10(4).     ///    \"To determine if this tumor-specific genetic alteration also occurs in HD, we performed NPM-ALK RT-PCR on RNA samples extracted from 40 lymph node biopsies of HD (25 nodular sclerosis, 11 mixed cellularity, 2 lymphocyte depleted, 2 lymphocyte predominant). \"'), ('6002', 'P210_P190', 't(9;22) / ', 'P210', 'P190', '11861265', '32', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'simultaneous p190/p210, 3%). '), ('6003', 'BCR_ABL1', '', 'BCR', 'ABL1', '24482808', '32', 'leukemia\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Clinical application of catalytically cleavable fluorescence probe technology for multiplexing quantification of BCR-ABL1 fusion transcripts..     ///     Accurate measurement of BCR-ABL1 fusion transcripts is critical for therapeutic stratification in patients with chronic myelogenous leukemia (CML).     ///    \"Here, we developed a one-step multiplex RQ-PCR method based on the catalytically cleavable fluorescence probe technology for quantification of BCR-ABL1 transcripts. \"'), ('6004', 'RET_PTC', '', 'RET', 'PTC', '10849090', '32', 'papillary carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The expression of RET/PTC fusion gene adds support to the hypothesis that this tumour is a variant of PC, probably related to the oncocytic variant of PC..     ///    Warthin-like tumour of the thyroid gland: RET/PTC expression indicates it is a variant of papillary carcinoma..     ///    We performed an histological and immunohistochemical study with emphasis on RET/PTC expression.     ///    An interesting finding was the strong positivity with the antibody against RET/PTC. '), ('6005', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '24108432', '32', 'giant cell fibroblastoma\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', '', 'KB', '', 'Molecular characterisation showed the absence of COL1A1-PDGFB fusion transcripts in cases 1, 3 and 4, excluded diagnosis of giant cell fibroblastoma in all cases. '), ('6006', 'JJAZ1_JAZF1', '', 'JJAZ1', 'JAZF1', '24624987', '32', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The RT-PCR method for identification of the JAZF1-JJAZ1 fusion transcript was negative. '), ('6007', 'ETO_AML1', '', 'ETO', 'AML1', '24920269', '32', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Monitoring the AML1/ETO fusion transcript to predict outcome in childhood acute myeloid leukemia..     ///    \"After induction chemotherapy, a >1.8 log reduction in AML1/ETO transcripts in BM determined by RQ-PCR may represent a subgroup of patients at low risk for relapse. \"    ///    AML1/ETO transcripts were normalized to 10(5) ABL copies.     ///    \" To determine the prognostic significance of the detection of the minimal residual disease (MRD) in children with AML1/ETO AML, we compared the results of reverse-transcription polymerase chain reaction (RT-PCR) and quantitative reverse-transcription polymerase chain reaction (RQ-PCR). \"    ///    \"Between January 2006 and February 2013, 70 patients (?16 years of age) with AML1/ETO AML were included in our study. \"    ///    Both RT-PCR and RQ-PCR can be used to detect MRD in childhood AML1/ETO AML. '), ('6008', 'TBLR1_RARA', 't(3;17)(q26;q21) / t(7;17) / ', 'TBLR1', 'RARA', '24782508', '32', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'As a result, TBLR1-RAR? exhibited diminished transcriptional activity by recruitment of more transcriptional corepressors compared with RAR?. '), ('6009', 'ZC3H7B_BCOR', '', 'ZC3H7B', 'BCOR', '26732302', '32', 'osteosarcoma;sarcoma\r\r', '', '', '', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', '', 'It is now established that OFMTs represent translocation-associated tumors, with up to 85% associated with recurrent gene rearrangements, mostly involving the PHF1 gene (including in typical, atypical, and malignant neoplasms), with EP400-PHF1 in approximately 40% of tumors, and ZC3H7B-BCOR, MEAF6-PHF1, and EPC1-PHF1 fusions also described. '), ('6010', 'NCOA2_AHRR', '', 'NCOA2', 'AHRR', '25188185', '32', 'angiofibroma', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', 'Characteristic AHRR-NCOA2 fusion transcript was detected by RT-PCR. '), ('6011', 'SYT_SSX', '', 'SYT', 'SSX', '15045545', '32', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' The purpose of our study was to assess microinvasion in a case of synovial sarcoma by means of the reverse transcriptase polymerase chain reaction (RT-PCR) for detecting SYT-SSX fusion transcripts. '), ('6012', 'MYH11_CBFB', '', 'MYH11', 'CBFB', '20625124', '32', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', ' To evaluate the prognostic impact of minimal residual disease (MRD) in patients with acute myeloid leukemia (AML) expressing the CBFB-MYH11 fusion transcript.     ///    Monitoring of CBFB-MYH11 transcript levels should be incorporated into future clinical trials to guide therapeutic decisions.. '), ('6013', 'IGH_BCL2', '', 'IGH', 'BCL2', '12960812', '32', 'B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The presence of a BCL-2/IgH gene rearrangement was investigated by polymerase chain reaction. '), ('6014', 'P300_ETO', 't(8;21)  / ', 'P300', 'ETO', '25928846', '32', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Furthermore, a substantial fraction of AML1-ETO/p300 co-localization occurs near TSSs in promoter regions associated with transcriptionally active loci.     ///    \"In contrast, the AML1-ETO/p300 gene network is less responsive to AML1-ETO depletion and less associated with the differentiation block characteristic of leukemic cells. \"'), ('6015', 'ETO_AML1', '', 'ETO', 'AML1', '15147374', '32', '', 'PCR', '', '', '', '', '', '', '', 'Concomitant monitoring of fusion transcripts (PML-RARalpha, AML1-ETO, MLL-MLL, CBFbeta-MYH11, or DEK-CAN) in 38 patients identified different relationships between WT1 and fusion transcript levels, the AML1-ETO group showing remarkably low levels of WT1 compared with fusion transcript. '), ('6016', 'PHF1_EPC1', '', 'PHF1', 'EPC1', '26732302', '32', 'osteosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'It is now established that OFMTs represent translocation-associated tumors, with up to 85% associated with recurrent gene rearrangements, mostly involving the PHF1 gene (including in typical, atypical, and malignant neoplasms), with EP400-PHF1 in approximately 40% of tumors, and ZC3H7B-BCOR, MEAF6-PHF1, and EPC1-PHF1 fusions also described. '), ('6017', 'SYT_SSX', '', 'SYT', 'SSX', '10563198', '32', 'synovial sarcoma;neuroectodermal tumor;ewing sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The SYT/SSX fusion transcript was identified in both the foot and lung lesions, whereas the EWS/FLI1 transcript was not detected in either lesion. '), ('6018', 'SYT_SSX2', '', 'SYT', 'SSX2', '12150740', '32', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Among 33 SYT-SSX-positive synovial sarcomas, 22 tumors had an SYT-SSX 1 fusion transcript, whereas 6 tumors had an SYT-SSX2 fusion transcript.     ///    SYT-SSX2 fusion transcripts can only be found in monophasic synovial sarcoma..     ///    \"All 10 biphasic synovial sarcomas had the SYT-SSX1 fusion, whereas all tumors with SYT-SSX2 were of monophasic morphology (P < 0.05). \"'), ('6019', 'NFIB_MYB', 't(6;9)  / ', 'NFIB', 'MYB', '20647765', '32', 'T cell leukemia;leukemia\r\r', '', '', '', '', '', '', 'KB', '', 'Deletion of these target sites may disrupt the repression of MYB, leading to overexpression of MYB-NFIB transcripts and protein and to transcriptional activation of critical MYB target genes associated with apoptosis, cell cycle control, cell growth/angiogenesis and cell adhesion. '), ('6020', 'helicase_DEAD', 't(11;14)(q23;q32) / ', 'helicase', 'DEAD', '11751426', '32', 'B cell lymphoma;colorectal cancer;lymphoma\r\r', '', '', '', '', '', '', '', '', 'The rck/p54 protein belongs to the DEAD box protein/RNA helicase family, which has a variety of functions such as translation initiation, pre-mRNA splicing and ribosome assembly.     ///    These results suggest that rck/p54 of the DEAD box protein/RNA helicase family may contribute to cell proliferation and carcinogenesis in the development of human colorectal tumors at the translational level by increasing synthesis of c-myc protein.. '), ('6021', 'BCL2_IGH', '', 'BCL2', 'IGH', '12691144', '32', 'follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The aim of this study was to analyze the bcl-2/IgH rearrangement by means of a PCR technique, and to correlate molecular findings with clinical characteristics and outcome.     ///    Incidence and clinical significance of bcl-2/IgH rearrangements in follicular lymphoma..     ///    \"No differences were found according to bcl-2/IgH rearrangement in terms of complete response rate, time to treatment failure and overall survival. \"    ///    \"In our series bcl-2/IgH rearrangement at MBR or mcr, which was found in 67% of the patients, was not correlated with response to treatment, survival nor time-to-treatment-failure.. \"    ///    \"Regarding the initial characteristics, patients with bcl-2/IgH rearrangements at MBR or mcr were younger (<65 years) than those with no rearrangement at these sites (p = 0.0001). \"    ///     Bcl-2/IgH rearrangement is the molecular hallmark of follicular lymphoma (FL) which is present in 70-90% of the cases at diagnosis.     ///    Bcl-2/IgH rearrangement was assessed for both the major breakpoint region (MBR) and the minor cluster region (mcr) breakpoints by a PCR technique.     ///    \"Thirty-nine out of sixty patients (65%) with assessable samples were found to have a bcl-2/IgH rearrangement in the MBR breakpoint, whereas bcl-2/IgH rearrangement in mcr was observed in one patient (2%) and no rearrangement at MBR or mcr in the remaining 20 patients (33%). \"'), ('6022', 'RET_PTC3', '', 'RET', 'PTC3', '15680400', '32', 'cowden syndrome', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', '', '', ' The two main forms of RET rearrangement in papillary thyroid carcinomas (PTC) arise from intrachromosomal inversions fusing the tyrosine kinase domain of RET with either the H4 (RET/PTC1) or the ELE1/RFG genes (RET/PTC3). '), ('6023', 'MECOM_AML1', 't(8;21)(q22;q22) / t(3;21)(q26;q22) / t(3;21) / ', 'MECOM', 'AML1', '8585955', '31', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', '', '', 'We have compared the normal AML1 to AML1/MDS1, AML1/EAP and AML1/MDS1/EVI1 as transcriptional regulators of the CSF1R promoter.     ///    AML1/MDS1 and AML1/EAP affect cell growth and phenotype when expressed in rat fibroblasts.     ///    \"Because of the results obtained with cells expressing one or both genes, we conclude that MDS1 seems to have tumorigenic properties, but that AML1/EAP seems to repress the oncogenic property of AML1/MDS1.. \"    ///    \"In addition, the chimeric transcript AML1/MDS1/EVI1 has also been detected in cells from one patient with the 3;21 translocation as well as in one of our patients. \"    ///    \"In addition, cells expressing AML1/MDS1 grow larger tumors in nude mice, whereas cells expressing only AML1/EAP do not form tumors, and cells expressing both chimeric genes induce tumors of intermediate size. \"'), ('6024', 'MDS1_AML1', 't(8;21)(q22;q22) / t(3;21)(q26;q22) / t(3;21)  / ', 'MDS1', 'AML1', '9209363', '31', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'We have compared the normal AML1 to AML1/MDS1 and AML1/EAP as transcriptional regulators of the CSF1R promoter which contains the CBF target sequence.     ///    \"However, only cells expressing AML1/MDS1 grow as large tumors in nude mice. \"'), ('6025', 'NUT_BRD4', 't(15;19) / ', 'NUT', 'BRD4', '12543779', '31', '', '', 'Kinase', '', '', '', '', 'KB', '', 'Herein we demonstrate that BRD4 is fused with nearly the entire transcript of the novel 15q13 gene, NUT (nuclear protein in testis), forming a 6.4-kb fusion oncogene, BRD4-NUT.     ///    BRD4-NUT fusion oncogene: a novel mechanism in aggressive carcinoma..     ///    \"Very few fusion oncogenes have been identified in epithelial tumors, and BRD4-NUT is the first fusion oncogene mechanism identified in a highly lethal form of carcinoma.. \"'), ('6026', 'P53_FXR2', '', 'P53', 'FXR2', '16778363', '31', 'leukemia;down syndrome\r\r', '', '', '', '', '', '', '', '', 'The p53/FXR2 gene is the first reported p53 fusion gene..     ///    \"The p53/FXR2 protein was expressed at high levels in the cytoplasm, whereas wild-type p53 and FXR2 were localized primarily in the nucleus and in the periphery of the nucleus, respectively. \"    ///    \"Treatment with a topoisomerase II inhibitor, VP16, failed to induce expression of a p53 target gene, the cyclin-dependent kinase inhibitor p21(WAF-1/CIP1), in CMK11-5 cells, and transient transfection analysis showed that the p53/FXR2 protein failed to transactivate the p21(WAF-1/CIP1) promoter. \"    ///    \"Western blot analyses have shown that the p53/FXR2 protein is indeed expressed in a Down syndrome-related acute megakaryoblastic leukemia cell line, CMK11-5 cells. \"    ///    \"To investigate the properties of the p53/FXR2 protein, we observed its subcellular localization. \"    ///    These results suggest that the p53/FXR2 fusion protein lacks the ability of wild-type p53 to function as a transcription factor.     ///    Cloning and characterization of the novel chimeric gene p53/FXR2 in the acute megakaryoblastic leukemia cell line CMK11-5.. '), ('6027', 'EAP_AML1', 't(8;21)(q22;q22) / t(3;21)(q26;q22) / t(3;21) / ', 'EAP', 'AML1', '8585955', '31', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'We have compared the normal AML1 to AML1/MDS1, AML1/EAP and AML1/MDS1/EVI1 as transcriptional regulators of the CSF1R promoter.     ///    AML1/MDS1 and AML1/EAP affect cell growth and phenotype when expressed in rat fibroblasts.     ///    \"Because of the results obtained with cells expressing one or both genes, we conclude that MDS1 seems to have tumorigenic properties, but that AML1/EAP seems to repress the oncogenic property of AML1/MDS1.. \"    ///    \"In addition, cells expressing AML1/MDS1 grow larger tumors in nude mice, whereas cells expressing only AML1/EAP do not form tumors, and cells expressing both chimeric genes induce tumors of intermediate size. \"'), ('6028', 'EAP_AML1', 't(8;21)(q22;q22) / t(3;21)(q26;q22) / t(3;21)  / ', 'EAP', 'AML1', '9209363', '31', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'We have compared the normal AML1 to AML1/MDS1 and AML1/EAP as transcriptional regulators of the CSF1R promoter which contains the CBF target sequence. '), ('6029', 'RET_PTC', '', 'RET', 'PTC', '10931090', '31', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'We found a post-Chernobyl papillary thyroid carcinoma with an RET/PTC-1 rearrangement characterized by a transcript longer than expected.     ///    \"Similar to previously reported PTC-3 variants, long-PTC-1 has been found in a post-Chernobyl papillary thyroid carcinoma confirming that RET/PTC rearrangements other than the classical forms (RET/PTC-1 and -3) are specifically associated with radiation-induced papillary thyroid cancer.. \"    ///    \" Two main types of RET/PTC oncogene, named RET/PTC-1 and 3, occur in papillary thyroid carcinomas especially in those from Belarus children after the Chernobyl nuclear accident. \"    ///    \"To our knowledge, no variant of RET/PTC-1 has been described up to now. \"    ///    \"Several variants of RET/PTC-3 have also been found, having different break points with respect to the classical RET/PTC-3. \"    ///    \"In conclusion, we describe here the first variant of RET/PTC-1 oncogene, which we have termed \'long\'-PTC-1, characterized by new breakpoints of both genes involved in the rearrangement and having transforming activity. \"    ///    \"The RET gene breakpoint occurred within exon 11, at variance with the classical form of RET/PTC-1, in which it is in intron 11. \"'), ('6030', 'IGH_BCL2', '', 'IGH', 'BCL2', '19187275', '31', 'leukemia;lymphoproliferative disorder\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'DNA was extracted from paired peripheral blood (PB) cells and plasma for polymerase chain reaction (PCR)-based detection of immunoglobulin heavy chain (IgH) and T-cell receptor gamma chain (TCR-gamma) rearrangements, and B-cell leukemia/lymphoma (BCL)-1/IgH and BCL-2/IgH translocations.     ///    \"Concordance between plasma and PB cell analysis was 100% for IgH (n = 57), TCR-gamma (n = 57), and BCL-1/IgH (n = 37) rearrangements, and 94% (60/64) for BCL-2/IgH. \"    ///    four of 11 plasma samples positive for BCL-2/IgH tested negative in paired cells. '), ('6031', 'MLL_AFF1', '', 'MLL', 'AFF1', '19262598', '31', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', 'PCR', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'Nine TPGs seem to be predominantly involved in genetic recombinations of MLL: AFF1/AF4, MLLT3/AF9, MLLT1/ENL, MLLT10/AF10, MLLT4/AF6, ELL, EPS15/AF1P, MLLT6/AF17 and SEPT6, respectively. '), ('6032', 'IGH_BCL2', '', 'IGH', 'BCL2', '11368367', '31', 'non Hodgkin lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'After SCT, minimal residual disease (MRD) was monitored by polymerase chain reaction (PCR) in seven patients with a BCL-2/IgH translocation and in 13 with a clonal immunoglobulin heavy chain (IgH) rearrangement. '), ('6033', 'SSR_EST', '', 'SSR', 'EST', '21620329', '31', '', 'PCR', '', '', '', '', '', '', '', 'The main objective was to further assess the potential of EST-SSRs as informative markers and investigate their cross-species amplification in sixteen teleost fish species: seven sparid species and nine other species from different families.     ///    \"Approximately 78% of the primer pairs gave PCR products of expected size in gilthead sea bream, and as expected, the rate of successful amplification of sea bream EST-SSRs was higher in sparids, lower in other perciforms and even lower in species of the Clupeiform and Gadiform orders. \"    ///    EST-SSRs were used as template for primer design. '), ('6034', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '19187542', '31', 'systemic mastocytosis\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Reverse transcriptase-polymerase chain reaction (RT-PCR) was used for the detection of FIP1L1-PDGFRA rearrangement and the results confirmed by direct sequencing.     ///    \"Patients with CEL and HES responded to imatinib and remained in complete haematological, clinical and molecular (for carriers of FIP1L1-PDGFRA rearrangement) remission for a median of 28.2 months (range: 11-54), whilst the patient with systemic mastocytosis did not respond. \"    ///    This study was undertaken in order to examine the prevalence and the associated clinicopathologic and genetic features of FIP1L1-PDGFRA rearrangement in a cohort of 15 adult patients presenting with profound eosinophilia (> 1.5 x 109/L).     ///    \"Two male patients with splenomegaly carried the FIP1L1-PDGFRA rearrangement, whilst 2 others were ultimately classified as suffering from idiopathic hypereosinophlic syndrome (HES) and one from systemic mastocytosis. \"    ///     Primary eosinophlia associated with the FIP1L1-PDGFRA rearrangement represents a subset of chronic eosinophilic leukaemia (CEL) and affected patients are very sensitive to imatinib treatment.     ///    FIP1L1-PDGFRA molecular analysis in the differential diagnosis of eosinophilia..     ///    \"Interestingly, in both patients with FIP1L1-PDGFRA rearrangement, the breakpoints into PDGFRA were located within exon 12 and fused with exons 8 and 8a of FIP1L1, respectively. \"'), ('6035', 'KISS1R_KISS1', '', 'KISS1R', 'KISS1', '18509165', '31', '', 'PCR', '', '', '', 'Receptor', '', '', '', 'These results indicate that the Kiss1/Kiss1r system may participate in puberty initiation in fish as well. '), ('6036', 'RARA_PML', '', 'RARA', 'PML', '24975339', '31', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'He obtained hematological remission after combination therapy with all-trans retinoic acid and chemotherapy for PMC, and PML-RARA was not detected by FISH analysis.     ///    \"Arsenic trioxide (ATO) and imatinib therapy induced a second complete cytogenetic response, and PML-RARA mRNA detected by real-time quantitative RT-PCR dropped below the detection limit. \"'), ('6037', 'IGFBP3_IGFI', '', 'IGFBP3', 'IGFI', '15309428', '31', '', '', '', '', '', '', '', '', '', 'As the only food, fish showed a suggestive inverse association with IGF-I and the IGF-I/ IGFBP-3 ratio.     ///    \"Dietary fiber and vitamin A were positively related to IGF-I (p = 0.004 and 0.03), zinc with IGFB-3 (p = 0.0008), and iron with the IGF-I/IGFBP-3 ratio (p = 0.048), but the differences between the bottom and top quartile were less than 10%. \"    ///    \"After creating quartiles for 13 food and 13 nutrient density variables, least-square means of IGF-I, IGFBP-3, and the IGF-I/IGFBP-3 ratio were calculated by quartile, while adjusting for age, ethnicity, body mass index, and year of laboratory analysis. \"'), ('6038', 'RET_PTC', '', 'RET', 'PTC', '24862939', '31', 'papillary carcinoma;thyloid cancer\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Polymerase chain reaction (PCR) was performed for BRAF and RAS mutations (RNA and DNA) as well as for RET/PTC rearrangements and PAX8-PPAR? translocations (RNA). '), ('6039', 'RANTES_ODD', '', 'RANTES', 'ODD', '23292657', '31', 'hepatocellular carcinoma\r\r', 'PCR', '', '', '', '', '', '', '', 'The chimeric adenovirus SG511-CCL5-ODD highly expressed             the RANTES-ODD fusion gene in the hypoxia of HCC under the control of the ODD             and effectively attracted NK92 cells and a high number of immunocytes.     ///    \"            The human RANTES/CCL5 gene was fused with ODD by PCR and the recombinant oncolytic             adenovirus containing RANTES-ODD, SG511-CCL5-ODD, was constructed by the Gateway             system, which infected cells by binding CD46. \"'), ('6040', 'ETO_AML1', 't(8;21)  / t(8;21) / ', 'ETO', 'AML1', '8137293', '31', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Because neither the putative zinc fingers nor the TAF110 homology domain of ETO is present in PEBP2 alpha B, one might expect functional differences in the ability of AML1/ETO protein to affect the levels of transcription of genes normally regulated to some degree by AML1 (PEBP2 alpha B) during myeloid differentiation.     ///    \"The ETO sequence is different from the portion of PEBP 2 alpha B it replaces in the AML1/ETO fusion protein, except for their common high content of proline, serine, and threonine residues. \"'), ('6041', 'P2RY8_CRLF2', '', 'P2RY8', 'CRLF2', '20139093', '31', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia;down syndrome\r\r', '', '', '', '', 'Receptor', '', '', '', 'Each of the 29 cases harbored a genomic rearrangement of CRLF2: 18 of 29 (62%) had a translocation of the immunoglobulin heavy chain gene IGH@ on 14q32 to CRLF2 in the pseudoautosomal region 1 of Xp22.3/Yp11.3, whereas 10 (34%) cases had a 320-kb interstitial deletion centromeric of CRLF2, resulting in a P2RY8-CRLF2 fusion.     ///    \"One case had both IGH@-CRLF2 and P2RY8-CRLF2, and another had a novel CRLF2 rearrangement. \"'), ('6042', 'diaphorase_NADPH', '', 'diaphorase', 'NADPH', '11397550', '31', '', '', '', '', '', '', '', '', '', ' The pattern of NADPH-diaphorase expression was studied in the retina and optic tectum of the cichlid fish Tilapia mariae during the first developmental stages.     ///    \"The development of NADPH-diaphorase and nitric oxide synthase in the visual system of the cichlid fish, Tilapia mariae.. \"    ///    The density of NADPH-diaphorase labeled neurons in the inner nuclear layer of the retina and in the stratum periventriculare of the optic tectum was largely reduced in comparison with 2 days posthatching embryos.     ///    \"NADPH-diaphorase activity was seen early, at hatching. \"    ///    \"In 1-month-old Tilapia, NADPH-diaphorase staining and nitric oxide synthase immunoreactivity were found to overlap in both the retina and optic tectum. \"'), ('6043', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '15829516', '31', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Instead, our data suggest that AML1-ETO acts as a constitutive transcriptional repressor..     ///    \"In the first model, AML1-ETO is a constitutive transcriptional repressor of AML1 target genes, regardless of whether they are normally activated or repressed by AML1. \"    ///    We also present results of genetic interaction experiments with AML1 co-factors that are not consistent with AML1-ETO behaving as a dominant-negative factor.     ///    \"AML1-ETO is thought to interfere with normal AML1 function, although the mechanism by which it does so is unclear. \"    ///    \"Here, we have used Drosophila genetics to investigate two models of AML1-ETO function. \"    ///    \"To discriminate between these models, the effects of expressing AML1-ETO were characterized and compared with loss-of-function phenotypes of lozenge (lz), an AML1 homolog expressed during Drosophila eye development. \"    ///    \"In the second model, AML1-ETO dominantly interferes with AML1 activity by, for example, competing for a common co-factor. \"    ///    \"Two genes, AML1 and ETO, are fused together at the translocation breakpoint, resulting in the expression of a chimeric protein called AML1-ETO. \"'), ('6044', 'gastrin_CCK', '', 'gastrin', 'CCK', '9578981', '31', '', '', '', '', '', '', '', '', '', 'The CCK/gastrin family appears to be represented in the whole chordate phylum, and in addition to mammals, CCK and gastrin have recently been identified in a number of nonmammalian species representing the major vertebrate classes, including fishes, amphibians, reptiles, and birds.     ///    Phylogeny of the cholecystokinin/gastrin family..     ///    This now makes it possible to consider the CCK/gastrin phylogeny based on structural information.     ///    \"Instead, CCK/gastrin-specific antibodies might be cross-reacting with Asp-Phe-amides, like the lymnaDFamides, isolated from the freshwater snail Lymnaea stagnalis. \"    ///    \"Although the occurrence of CCK/gastrin-related peptides has been suggested in representatives of several invertebrate phyla, the evidence, mostly based on immunoreactivity, has not been substantiated by peptide identification. \"    ///    \"Cionin, isolated from Ciona intestinalis, a representative of the protochordates that occupy a key position at the transition to vertebrates, so far represents the oldest genuine member of the CCK/gastrin family, dating the emergence of these peptides back to at least 500 million years ago. \"    ///    \"The overall gene structure, including exon/intron organization, is similar in all mammalian and nonmammalian CCK/gastrin genes. \"    ///    \"In conclusion, the CCK/gastrin family appears to be represented in most, if not all, chordates, to which group it may also be limited. \"'), ('6045', 'COL4A6_COL4A5', '', 'COL4A6', 'COL4A5', '23738515', '31', '', '', '', '', '', '', '', '', '', 'The rearrangements created tissue-specific changes consistent with a role in the initiation of leiomyoma, such as translocations of the HMGA2 and RAD51B loci and aberrations at the COL4A5-COL4A6 locus, and occurred in the presence of normal TP53 alleles. '), ('6046', 'TCR_IG', 't(14;18)  / ', 'TCR', 'IG', '7874004', '31', 'Hodgkin disease;T cell leukemia', 'PCR', '', '', '', '', '', '', '', 'Clonal analysis of Hodgkin\'s disease shows absence of TCR/Ig gene rearrangement, compared with T-cell-rich B-cell lymphoma and incipient adult T-cell leukemia/lymphoma.. '), ('6047', 'STAT5B_RARA', 't(15;17)  / ', 'STAT5B', 'RARA', '22655241', '31', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The STAT5b-RARA patient failed to achieve CRm following frontline combination chemotherapy and ultimately proceeded to allogeneic transplant on the basis of a steadily rising fusion transcript level.     ///    \"However, there are few data on tracking disease response in patients with rarer retinoid resistant subtypes of APL, characterized by PLZF-RARA and STAT5b-RARA. \"    ///    \"STAT5b-RARA, n?=?1), established the respective breakpoint junction regions and designed reverse transcription-quantitative real-time polymerase chain reaction (RT-qPCR) assays to detect leukemic transcripts. \"'), ('6048', 'SYK_ITK', 't(5;9)(q33;q22) / ', 'SYK', 'ITK', '16341044', '31', 'T cell lymphoma;anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'ITK-SYK transcripts were detected in five of 30 (17%) unspecified PTCL, but not in cases of angioimmunoblastic T-cell lymphoma (n=9) and anaplastic lymphoma kinase-negative anaplastic large-cell lymphoma (n=7). '), ('6049', 'WIF1_HMGA2', '', 'WIF1', 'HMGA2', '21394649', '30', 'pleomorphic adenoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Immunohistochemically, tumor cells in all 45 pleomorphic adenomas were positive for PLAG1, irrespective of PLAG1 rearrangements, even in the case with the HMGA2-WIF1 fusion transcript.     ///    \"RT-PCR analyses identified the CTNNB1-PLAG1, LIFR-PLAG1, CHCHD7-PLAG1, and HMGA2-WIF1 fusion transcripts in eight, two, one, and one case, respectively. \"'), ('6050', 'TPM3_NTRK1', '', 'TPM3', 'NTRK1', '24962792', '30', 'colorectal carcinoma\r\r', 'PCR', 'Kinase', '', '', '', '', 'KB', 'Seq', 'Finally, using quantitative reverse transcriptase PCR and immunohistochemistry (IHC) we identified the TPM3-NTRK1 rearrangement in a CRC clinical sample, therefore suggesting that this chromosomal translocation is indeed a low frequency recurring event in CRC and that such patients might benefit from therapy with TRKA kinase inhibitors.     ///    The TPM3-NTRK1 rearrangement is a recurring event in colorectal carcinoma and is associated with tumor sensitivity to TRKA kinase inhibition.    ///    The TPM3-NTRK1 rearrangement is a recurring event in colorectal carcinoma and is associated with tumor sensitivity to TRKA kinase inhibition..     ///    \"We report the detailed characterization of the TPM3-NTRK1 genomic rearrangement in KM12?cells and through a cellular screening approach, the identification of NMS-P626, a novel highly potent and selective TRKA inhibitor. \"    ///    NMS-P626 suppressed TPM3-TRKA phosphorylation and downstream signaling in KM12 cells and showed remarkable antitumor activity in mice bearing KM12 tumors.     ///    \"NTRK1 was originally isolated from a colorectal carcinoma (CRC) sample as component of a somatic rearrangement (TPM3-NTRK1) resulting in expression of the oncogenic chimeric protein TPM3-TRKA, but there has been no subsequent report regarding the relevance of this oncogene in CRC. \"    ///    The KM12 human CRC cell line expresses the chimeric TPM3-TRKA protein and is hypersensitive to TRKA kinase inhibition. '), ('6051', 'RARA_NPM', '', 'RARA', 'NPM', '16331271', '30', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'To analyse whether the variable X moiety could affect the activity of the fusion protein in vivo, we generated and characterized, on a comparative basis, NPM/RAR alpha transgenic mice (TM) in which the fusion gene is expressed under the control of a human Cathepsin G (hCG) minigene.     ///    hCG-NPM/RAR alpha leukemic cells resembled monoblasts.     ///    \"Similarly to what was observed in human APL patients, we found that NPM/RAR alpha and PML/RAR alpha, but not PLZF/RAR alpha leukemia, was responsive to all-trans retinoic acid (ATRA) or As2O3 treatments. \"    ///    \"Leukemia with distinct phenotypes in transgenic mice expressing PML/RAR alpha, PLZF/RAR alpha or NPM/RAR alpha.. \"    ///    \"Importantly, the NPM/RAR alpha oncoprotein was found to localize in the nucleolus, unlike PML/RAR alpha and PLZF/RAR alpha, thus possibly interfering with the normal function of NPM. \"'), ('6052', 'DEK_CAN', 't(6;9)  / ', 'DEK', 'CAN', '7753551', '30', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'DEK-CAN and SET-CAN were localized exclusively in the nucleus, and also DEK and SET were found to be nuclear proteins.     ///    The relocation of the carboxyterminal part of CAN due to DEK-CAN and SET-CAN may reinforce a nuclear function of the CAN protein..     ///    \"In order to obtain leads towards the molecular basis of these diseases, we have studied the cellular localization of the DEK-CAN and SET-CAN fusion proteins and their normal counterparts. \"'), ('6053', 'SYT_SSX1', '', 'SYT', 'SSX1', '15725802', '30', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'SYT-SSX1 fusion transcripts were detected in 22 cases (56.4%) and SYT-SSX2 fusion transcripts in 17 cases. '), ('6054', 'SYT_SSX2', '', 'SYT', 'SSX2', '15725802', '30', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'SYT-SSX1 fusion transcripts were detected in 22 cases (56.4%) and SYT-SSX2 fusion transcripts in 17 cases. '), ('6055', 'SET_CAN', 't(6;9)  / ', 'SET', 'CAN', '7753551', '30', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'DEK-CAN and SET-CAN were localized exclusively in the nucleus, and also DEK and SET were found to be nuclear proteins.     ///    The relocation of the carboxyterminal part of CAN due to DEK-CAN and SET-CAN may reinforce a nuclear function of the CAN protein..     ///    \"In order to obtain leads towards the molecular basis of these diseases, we have studied the cellular localization of the DEK-CAN and SET-CAN fusion proteins and their normal counterparts. \"'), ('6056', 'TFE3_ASPL', '', 'TFE3', 'ASPL', '18714394', '30', 'sarcoma\r\r', '', '', '', '', '', '', '', '', 'Halofuginone, an inhibitor of myofibroblasts\' activation and Smad3 phosphorylation, inhibited tumor development in xenografts derived from renal carcinoma cells harboring a reciprocal ASPL-TFE3 fusion transcript. '), ('6057', 'TEL_FGFR3', '', 'TEL', 'FGFR3', '15514005', '30', 'T cell lymphoma;leukemia;lymphoma\r\r', '', 'Kinase', '', '', '', '', '', '', 'Sequence analysis of TEL-FGFR3 fusion transcripts suggested that these diseases originated from the same multipotent stem cell.     ///    \"(2) although effector proteins including classical mitogen-activated protein kinase (MAPK), p38 MAPK, phosphatidylinositol 3-kinase (PI3-K), mammalian target or rapamycin (mTOR), signal transducer and activator of transcription 3 (STAT-3) and STAT-5 were activated in TEL-FGFR3 transformants, the growth of the transformants was inhibited by SU5402 (concentration that inhibits 50% [IC5)]=5 microM) and the PI3-K inhibitor, LY294002 (IC5)=10 microM) and wortmannin (IC50=5 microM), but not by U0126, SB203580, or rapamycin. \"    ///    \"Taken together, the leukemogenic potential of TEL-FGFR3 may be mediated in part through PI3-K.. \"    ///    Transforming property of TEL-FGFR3 mediated through PI3-K in a T-cell lymphoma that subsequently progressed to AML..     ///    and (3) injection of TEL-FGFR3 transformants induced lethal leukemia into syngeneic mice. '), ('6058', 'TLS_CHOP', '', 'TLS', 'CHOP', '8523819', '30', 'liposarcoma;fibrous histiocytoma;sarcoma;histiocytoma\r\r', '', '', '', '', '', '', '', '', 'p11), and that this results in two types (type I and type II) of FUS/TLS-CHOP fusion transcripts.     ///    \"We were thus able to detect the type I FUS/TLS-CHOP fusion transcript in clinical specimens of liposarcoma from Asian patients, including the first examples of round cell liposarcoma. \"    ///    These results suggest that the detection of FUS/TLS-CHOP chimeric transcripts or chimeric genes can be used as a diagnostic tool for the pathological diagnosis of liposarcomas..     ///    \"In this study, the FUS/TLS-CHOP chimeric transcripts in seven malignant soft tissue tumors of Asian patients were analyzed by reverse transcription-polymerase chain reaction, DNA blot hybridization and nucleotide sequencing. \"    ///    FUS/TLS-CHOP chimeric transcripts in liposarcoma tissues.. '), ('6059', 'NUP98_DDX10', '', 'NUP98', 'DDX10', '10830185', '30', 'myelodysplastic syndrome\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'The NUP98-DDX10 fusion transcript may promote the development of secondary hematological malignancies caused by DNA-topoisomerase II inhibitors through aberrant nucleocytoplasmic transport and/or alteration in ribosome assembly.. '), ('6060', 'AE3_AE1', 'del(6q) / ', 'AE3', 'AE1', '8534763', '30', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Immunohistochemistry of the bone marrow biopsy was negative for anti-keratin antibodies CAM.5.2 and AE1/AE3, but positive for EMA. '), ('6061', 'PTD_MLL', 'inv(16) / t(16;16)  / inv(3) / t(3;3)  / t(15;17)  / ', 'PTD', 'MLL', '16434492', '30', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'However, there was a trend to better survival in most subgroups, especially when other molecular markers (FLT3-LM, MLL-PTD, and NPM) were taken into account.. '), ('6062', 'Immunoglobulin _BCL2', '', 'Immunoglobulin ', 'BCL2', '12701113', '30', 'non Hodgkin lymphoma;follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The present study examined randomly accrued NHL patients, independent of their cytogenic grades, for the presence of cells bearing bcl-2/immunoglobulin heavy chain (IgH) gene rearrangements in lymph node (LN) biopsies and the bone marrow by polymerase chain reaction (PCR) and Southern blot hybridization combined with a classical culturing technique. '), ('6063', 'RARA_PML', '', 'RARA', 'PML', '22018276', '30', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Microgranular variant of acute promyelocytic leukemia with normal conventional cytogenetics, negative PML/RARA FISH and positive PML/RARA transcripts by RT-PCR.. '), ('6064', 'TFE3_ASPL', '', 'TFE3', 'ASPL', '19472090', '30', 'alveolar soft part sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The presence of ASPL-TFE3 fusion transcripts was assessed by reverse transcriptase polymerase chain reaction.     ///    \"The high expression of MET in ASPL-TFE3 (+) ASPS may further support the potential role of targeted agents against MET in this rare, chemoresistant tumor.. \"'), ('6065', 'MPL_JAK2', 'inv(3) / ', 'MPL', 'JAK2', '22086865', '30', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The presence of fibrosis, JAK2/MPL mutation or +9/13q- cytogenetic abnormality is supportive but not essential for diagnosis. ');
