INSERT INTO `ChimerPub_dump` VALUES ('4035', 'RUNX1_ETV6', 't(12;21)(p13;q22) / ', 'RUNX1', 'ETV6', '19679565', '100', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' Acute lymphoblastic leukemia (ALL) is the most common childhood malignancy, with high hyperdiploidy [51-67 chromosomes] and the t(12;21)(p13;q22) [ETV6/RUNX1 fusion] representing the most frequent abnormalities.     ///    We performed genome-wide methylation profiling using bacterial artificial chromosome arrays and promoter-specific analyses of high hyperdiploid and ETV6/RUNX1-positive ALLs. '), ('4036', 'BP5_BP4', '16p11.2 / ', 'BP5', 'BP4', '25678630', '100', '', '', '', '', '', '', '', '', '', ' Individuals with the 16p11.2 BP4-BP5 copy number variant (CNV) exhibit a range of behavioral phenotypes that may include mild impairment in cognition and clinical diagnoses of autism spectrum disorder (ASD). '), ('4037', 'TEL_JAK2', 't(9;12)(p24;p13) / ', 'TEL', 'JAK2', '11313480', '100', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' TEL-JAK2 fusion proteins, which are a result of t(9;12)(p24;p13) translocations associated with human leukemia, activate Stat5 in vitro and in vivo and cause a myelo- and lymphoproliferative disease in a murine bone marrow transplant model.     ///    \"TEL-JAK2 kinase activity is inhibited by Socs-1, as assessed by in vitro kinase assays. \"    ///    \"TEL-JAK2, in addition to activating Stat5, associates with Shc and Grb2 and induces activation of Erk2, and expression of Socs-1 inhibits engagement of each of these signaling molecules. \"    ///    \"Collectively, these data indicate that Socs-1 inhibits TEL-JAK2 in vitro and in vivo through inhibition of kinase activity and induction of TEL-JAK2 protein degradation.. \"    ///    \"We report that Socs-1, a member of the SOCS family of endogenous inhibitors of JAKs and STATs, inhibits transformation of Ba/F3 cells by TEL-JAK2 but has no effect on Ba/F3 cells transformed by BCR-ABL, TEL-ABL, or TEL-platelet-derived growth factor receptor beta. \"    ///    \"In addition, Socs-1 induces proteasomal degradation of TEL-JAK2. \"'), ('4038', 'P21_P14', 'del(3)(p14-p21) / ', 'P21', 'P14', '3948145', '100', '', '', '', '', '', '', '', '', '', 'Constitutional del(3)(p14-p21) in a patient with bladder carcinoma.. '), ('4039', 'TERT_CLPTM1L', '5p15.33 / ', 'TERT', 'CLPTM1L', '22878375', '100', 'colorectal cancer\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', ' Polymorphic variation at the 5p15.33 (TERT-CLPTM1L) locus is associated with the risk of many cancers but a relationship with colorectal cancer (CRC) risk has yet to be defined.     ///    The rs2736100 association demonstrates an influence of variation at 5p15.33 on CRC risk and further evidence that the 5p15.33 (TERT-CLPTM1L) locus has pleiotropic effects (reflecting generic or lineage-specific effects) on cancer risk.. '), ('4040', 'NPM_ALK', 't(2;5)  / t(2;5) / ', 'NPM', 'ALK', '9616164', '100', 'cutaneous T cell lymphoma;mycosis fungoides', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Amplification of chromosomal breakpoints on both derivative chromosomes could represent an alternative to conventional cytogenetics for the diagnosis of t(2;5) and seems to be more reliable than the detection of cryptic NPM-ALK transcripts by nested RT-PCR..     ///    \" NPM-ALK chimeric transcripts, encoded by the t(2;5), lead to an aberrant expression of ALK by CD30+ systemic lymphomas. \"    ///    \"However, the expression of NPM-ALK transcripts was not associated with ALK1 immunoreactivity in MF, LyP, or BID cases. \"    ///    \"NPM-ALK transcripts were detected by nested reverse transcription-polymerase chain reaction (RT-PCR) in 1 of 11 lymphomatoid papulosis (LyP), 7 of 15 CD30+ primary cutaneous T-cell lymphoma (CTCL), 3 of 11 CD30+ secondary cutaneous lymphoma, 6 of 27 MF, and 1 of 16 BID. \"    ///    \"These cases, except for 1 secondary cutaneous lymphoma, were also characterized by reciprocal breakpoints on derivative chromosome 2, leading to the expression of reciprocal ALK-NPM transcripts. \"'), ('4041', 'MLZE_CCDC26', '5p15.3 / 9p21.3 / ', 'MLZE', 'CCDC26', '21742680', '100', '', '', '', '', '', '', '', '', '', 'Data from 855 high-grade glioma cases and 1,160 controls from 4 geographic regions of the United States during 1997-2008 were analyzed for interactions between allergy and smoking histories and inherited variants in 5 established glioma risk regions: 5p15.3 (TERT), 8q24.21 (CCDC26/MLZE), 9p21.3 (CDKN2B), 11q23.3 (PHLDB1/DDX6), and 20q13.3 (RTEL1). '), ('4042', 'TEL_AML1', 't(12;21)(p13;q22) / ', 'TEL', 'AML1', '11289124', '100', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' Although TEL-AML1 positivity [translocation t(12;21)(p13;q22)], detected in 20-25% of initial childhood acute lymphoblastic leukemia (ALL), has been associated with an excellent prognosis, its positive predictive value is insufficient for appropriate treatment stratification considering reported prevalence in relapsed ALL (3-28%).     ///    \"Here, we report on the sensitive quantification of leukemia-specific TEL-AML1 fusion transcript levels normalized to beta-actin expression (sensitivity threshholds, 10(-5)) by a novel real-time reverse transcription-PCR (RQ-RT-PCR) based on fluorescent TaqMan technique providing early and rapid evidence on the treatment efficacy of children with initial or relapsed TEL-AML1+ ALL enrolled in frontline or relapse trials of the Berlin-Frankfurt-M?nster (BFM)-Study Group. \"    ///    \"In relapsed ALL, TEL-AML1/beta-actin decrease was generally less pronounced at corresponding time points, and conversion to TEL-AML1 negativity was observed in 40% of patients. \"    ///    \"In conclusion, real-time quantification of TEL-AML1/beta-actin kinetics distinguishes distinct molecular response groups, and provides indications capable of directing therapeutic interventions for patients with TEL-AML1+ ALL. \"'), ('4043', 'BCR_ABL1', 't(9;22) / ', 'BCR', 'ABL1', '26185320', '100', 'chronic lymphoblastic leukemia;lymphoblastic leukemia', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In two patients, B-LBL blasts harbored t(9;22)(q34;q11.2)/BCR-ABL1. '), ('4044', 'TAL1_STIL', 't(9;22)(q34;q11) / t(10;11)(p15;q21) / ', 'TAL1', 'STIL', '22581002', '100', 'leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Of 92 patients karyotyped, 59 were abnormal and were classified as: complex (22 of 92), t(9;22)(q34;q11) (14 of 92), monosomy 7 (7 of 92), polysomy 21 (7 of 92), t(v;11q23) (4 of 92), t(10;11)(p15;q21) (3 of 92), while STIL-TAL1 fusion was detected in one (T+My) patient. '), ('4045', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '22084648', '100', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'From 2004, 51 patients with confirmed APL either by t(15;17) or PML/RARA were treated according to the PETHEMA LPA 99 trial. '), ('4046', 'PIP4K2A_BMI1', '10p12.31 / ', 'PIP4K2A', 'BMI1', '23512250', '100', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', '', '', '', '', '', '', 'A novel ALL susceptibility locus at 10p12.31-12.2 (BMI1-PIP4K2A, rs7088318, P = 1.1 ?? 10(-11)) was identified in the genome-wide association study, with independent replication in European Americans, African Americans, and Hispanic Americans (P = .001, .009, and .04, respectively).     ///    \"ARID5B, IKZF1, CEBPE, and BMI1-PIP4K2A variants cumulatively conferred strong predisposition to ALL, with children carrying six to eight copies of risk alleles at a ninefold (95% confidence interval = 6.9 to 11.8) higher ALL risk relative to those carrying zero to one risk allele at these four single nucleotide polymorphisms. \"    ///    \"Associations at ARID5B, IKZF1, and BMI1-PIP4K2A variants were consistent across ethnicity, with multiple independent signals at IKZF1 and BMI1-PIP4K2A loci. \"    ///    \"The frequency of ARID5B and BMI1-PIP4K2A variants differed by ethnicity, in parallel with ethnic differences in ALL incidence. \"'), ('4047', 'BCR_ABL1', 't(9;22)  / t(9;22) / ', 'BCR', 'ABL1', '22118744', '100', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Chronic myeloid leukemia (CML), characterized by the t(9;22) and BCR/ABL1 fusion, is a disease model for studying the mechanisms of genetic abnormalities in leukemogenesis.     ///    \"However, genomic instabilities that lead to the formation of the BCR/ ABL1 fusion are not fully understood. \"    ///    It is important to understand how various genes that are involved in regulating the signaling pathway and epigenetic deregulation cooperate with the BCR/ABL1 fusion in the initiation and progression of CML.. '), ('4048', 'MIR374a_MUT', '11p15.4 / ', 'MIR374a', 'MUT', '26062441', '100', 'colorectal cancer\r\r', '', '', '', '', '', '', '', '', 'Cancer cells overexpressed miR-374a has decreased levels of LDHA compared with miR-374a-MUT (rs18407893 at 11p15.4). '), ('4049', 'ITGAM_FUS', '16p11.2 / ', 'ITGAM', 'FUS', '25678086', '100', 'immune deficiency\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'We report a novel association of CVID with rare variants at the FUS/ITGAM (CD11b) locus on 16p11.2. '), ('4050', 'NUP214_ABL1', 't(5;14) / ', 'NUP214', 'ABL1', '15674415', '100', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'NUP214-ABL1 amplification in t(5;14)/HOX11L2-positive ALL present with several forms and may have a prognostic significance.. '), ('4051', 'IGF2_H19', '11p15.5 / ', 'IGF2', 'H19', '8542279', '100', 'angelman syndrome;Beckwith Wiedemann syndrome', '', '', '', '', '', '', '', '', 'Alignment of the genetic and physical maps of the ZNF127-SNRPN-IPW-PAR-5-PAR-1 region on chromosome 15q11-q13 (associated with Prader-Willi and Angelman syndromes) and the IGF2-H19 region on chromosome 11p15.5 (associated with Beckwith-Wiedemann syndrome) shows that both regions recombine with very high frequency during male meiosis, and with very low frequency during female meiosis. '), ('4052', 'NUP98_HOXA9', 't(7;11)(p15;p15) / ', 'NUP98', 'HOXA9', '11841413', '100', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Although it is well known that a fusion of NUP98-HOXA9 in myeloid malignancies is created by the t(7;11)(p15;p15), this case suggests the possibility that HOXA11 might be another partner gene for NUP98 in t(7;11)(p15;p15) leukaemia.. '), ('4053', 'FUS_DDIT3', 't(12,16) /  / ', 'FUS', 'DDIT3', '23253485', '100', 'liposarcoma;sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Molecular analysis of this tumor showed a t(12,16)?+?translocation resulting in a FUS-DDIT3 or EWSR1-DDIT3 fusion. '), ('4054', 'DEK_CAN', 't(6;9)(p23;q34) / t(6;9)  / ', 'DEK', 'CAN', '15973457', '100', 'leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'We conclude that DEK-CAN molecular monitoring by RQ-PCR in t(6;9) malignancies is a useful tool for individual patient management and that molecular negativity is indispensable for survival, but should not be a prerequisite for allografting in this rare, poor prognosis, subset of AML..     ///    DEK-CAN molecular monitoring of myeloid malignancies could aid therapeutic stratification..     ///    We used a DEK-CAN real-time quantitative (RQ)-PCR strategy to analyze 79 retrospective and prospective samples from 12 patients.     ///    Five patients reached DEK-CAN negativity (sensitivity 10(-5)).     ///    \"All four cases in CCR with adequate follow-up (median 18.5 months, range 13--95) demonstrate persistent molecular negativity, whereas all seven patients with persistent DEK-CAN positivity died at a median of 12 months from diagnosis (range 7--27). \"'), ('4055', 'FUT6_FUT3', '19p13.3 / ', 'FUT6', 'FUT3', '7782074', '100', '', '', '', '', '', '', '', '', 'Seq', 'Physical maps of human alpha (1,3)fucosyltransferase genes FUT3-FUT6 on chromosomes 19p13.3 and 11q21.. '), ('4056', 'TCF3_PBX1', 't(9;22) / t(1;19) / t(4;11) / ', 'TCF3', 'PBX1', '24781017', '100', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'None of the 106 patients with the t(9;22)/BCR-ABL1, t(1;19)/TCF3-PBX1 or t(4;11)/MLL-AFF1 had relapsed after 2 years from completion of therapy. '), ('4057', 'WT1_FLT3', 't(8;21) / inv(16) / t(15;17) / t(1;11) / t(4;11) / t(5;11) / t(6;11) / t(6;9) / t(7;12) / t(9;22) / t(9;11)  / ', 'WT1', 'FLT3', '22821298', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'A poor prognosis (HR-group) must be expected in AML with t(4;11), t(5;11), t(6;11), t(6;9), t(7;12), t(9;22), Monosomy 7, combined FLT3/WT1-mutation, and AML with der(12p)-aberration (n=101. '), ('4058', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '20111069', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'A novel exon in AML1-ETO negatively influences the clonogenic potential of the t(8;21) in acute myeloid leukemia.. '), ('4059', 'IGF2_H19', '11p15.5 / ', 'IGF2', 'H19', '24322424', '100', 'Beckwith Wiedemann syndrome;Russell-Silver Syndromes', '', '', '', '', '', '', '', '', ' The imprinted human 11p15.5 region encompasses two imprinted domains important for the control of fetal growth: the H19/IGF2 domain in the telomeric region and the KCNQ1OT1/CDKN1C domain in the centromeric region. '), ('4060', 'ETO_AML1', 't(8;21) / t(15;17)  / inv(16) / t(15;17) / t(8;21)  / inv(16)  / ', 'ETO', 'AML1', '21198299', '100', 'acute myeloid leukemia', '', '', '', '', '', '', '', '', 'The most common genetic abnormalities seen in pediatric AML patients are AML1-ETO, PML-RAR? and CBFB-MYH11 genes resulting in t(8;21), t(15;17) and inv(16).     ///    \"The authors analyzed 34 children with AML using the real time-polymerase chain reaction for AML1-ETO, PML-RAR? and CBFB-MYH11 genes. \"    ///    \"We investigated in this study, incidence and prognostic significance of the AML1-ETO, PML-RAR? and CBFB-MYH11 genes in children with AML. \"'), ('4061', 'CDKN2B_CDKN2A', '5p15.33 / 9p21.3 / ', 'CDKN2B', 'CDKN2A', '20462933', '100', 'asthma\r\r', '', 'Kinase', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Genome-wide association data have identified common genetic variants at 5p15.33 (rs2736100, TERT), 8q24.21 (rs4295627, CCDC26), 9p21.3 (rs4977756, CDKN2A-CDKN2B), 11q23.3 (rs498872, PHLDB1), and 20q13.33 (rs6010620, RTEL1) as determinants of glioma risk. '), ('4062', 'TCR_MYC', 't(8;14)(q24;q11) / ', 'TCR', 'MYC', '22800289', '100', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'A case of pediatric ?/? T-cell malignancy with t(8;14)(q24;q11)/MYC-TCR successfully treated with pulse type chemotherapy followed by stem cell transplant.. '), ('4063', 'MOZ_CBP', 't(8;16)(p11;p13) / ', 'MOZ', 'CBP', '19158836', '100', '', '', '', '', '', '', '', '', '', 'Therapy-related acute myeloid leukaemia with t(8;16)(p11;p13);MOZ-CBP and polymorphisms in detoxifying and DNA repair genes.. '), ('4064', 'BCR_ABL1', 't(9;22) / t(9;22)  / ', 'BCR', 'ABL1', '25919613', '100', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The t(9;22) is a reciprocal translocation which encodes not only for the der22 (Philadelphia chromosome) related BCR/ABL, but also for der9 related ABL/BCR fusion proteins, which can be detected in 65% of patients with chronic myeloid leukemia (CML) and 100% of patients with Ph+ acute lymphatic leukemia (ALL).     ///    The functional interplay between the t(9;22)-associated fusion proteins BCR/ABL and ABL/BCR in Philadelphia chromosome-positive acute lymphatic leukemia..     ///    Taken together our here presented data reveal an important role of p96(ABL/BCR) for the pathogenesis of Ph(+) ALL..     ///    Targeting p96(ABL/BCR) by RNAi inhibited growth of Ph(+) ALL cell lines and Ph(+) ALL patient-derived long-term cultures (PD-LTCs).     ///    ABL/BCRs are oncogenes able to influence the lineage commitment of hematopoietic progenitors.     ///    \"The co-expression of p96(ABL/BCR) enhanced the kinase activity and as a consequence, the transformation potential of p185(BCR/ABL). \"    ///    Co-expression of p96(ABL/BCR) abolished the capacity of p185(BCR/ABL) to induce a CML-like disease and led to the induction of ALL.     ///    Aim of this study was to further disclose the role of p96(ABL/BCR) for the pathogenesis of Ph(+) ALL. '), ('4065', 'P62_TRAF6', 'del(5q)  / ', 'P62', 'TRAF6', '25199827', '100', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', '', '', '', '', '', '', '', '', 'Interfering with the p62-TRAF6 signaling complex represents a therapeutic option in miR-146a-deficient and aggressive del(5q) MDS/AML.     ///    \"p62 is necessary for TRAF6-mediated NF-?B signaling, as disrupting the p62-TRAF6 signaling complex results in cell-cycle arrest and apoptosis of MDS/AML cells. \"'), ('4066', 'MLLT3_MLL', 'inv(16)  / t(9;11)(p22;q23) / ', 'MLLT3', 'MLL', '26159683', '100', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', '', 'Seq', 'Contrary to previous findings, the subtypes of AML with t(9;11)(p22;q23)MLLT3-MLL, AML without maturation and acute myelomonocytic leukemia emerged to be indicative of poor outcome. '), ('4067', 'TERT_CLPTM1L', '5p15.33 / 6p21.33 / ', 'TERT', 'CLPTM1L', '20700438', '100', 'lung cancer;adenocarcinoma\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'In summary, our results show that genetic variation in the CLPTM1L-TERT locus of chromosome 5p15.33 is directly associated with the risk of lung cancer, most notably adenocarcinoma..     ///    \"This SNP marker localizes to the CLPTM1L-TERT locus on chromosome 5p15.33 (p = 2.60 x 10(-20), allelic risk = 1.54, 95% Confidence Interval (CI) 1.41-1.68). \"'), ('4068', 'EWSR1_DDIT3', 't(12,16) /  / ', 'EWSR1', 'DDIT3', '23253485', '100', 'liposarcoma;sarcoma\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', '', 'Molecular analysis of this tumor showed a t(12,16)?+?translocation resulting in a FUS-DDIT3 or EWSR1-DDIT3 fusion. '), ('4069', 'RUNX1T1_RUNX1', 't(1;21;8)(p36;q22;q22) / ', 'RUNX1T1', 'RUNX1', '19602466', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Acute myeloid leukemia (M2) with a cryptic RUNX1/RUNX1T1 t(1;21;8)(p36;q22;q22) variant.. '), ('4070', 'FAS_ACTA2', '11p15.5 / 9p21.3 / 2p22.2 / 5p15.33 / ', 'FAS', 'ACTA2', '23770605', '100', 'chronic lymphocytic leukemia;leukemia;lymphoma\r\r', '', '', '', '', '', '', '', '', 'In the meta-analysis, we identified ten independent associated SNPs in nine new loci at 10q23.31 (ACTA2 or FAS (ACTA2/FAS), P=1.22??10(-14)), 18q21.33 (BCL2, P=7.76??10(-11)), 11p15.5 (C11orf21, P=2.15??10(-10)), 4q25 (LEF1, P=4.24??10(-10)), 2q33.1 (CASP10 or CASP8 (CASP10/CASP8), P=2.50??10(-9)), 9p21.3 (CDKN2B-AS1, P=1.27??10(-8)), 18q21.32 (PMAIP1, P=2.51??10(-8)), 15q15.1 (BMF, P=2.71??10(-10)) and 2p22.2 (QPCT, P=1.68??10(-8)), as well as an independent signal at an established locus (2q13, ACOXL, P=2.08??10(-18)). '), ('4071', 'ODF1_KLF10', '11p11.2 / 16p11.2 / ', 'ODF1', 'KLF10', '26028593', '100', 'IgA nephropathy', '', '', '', '', '', '', '', '', 'Here, we show novel associations at ST6GAL1 on 3q27.3 (rs7634389, odds ratio (OR)=1.13, P=7.27 ? 10(-10)), ACCS on 11p11.2 (rs2074038, OR=1.14, P=3.93 ? 10(-9)) and ODF1-KLF10 on 8q22.3 (rs2033562, OR=1.13, P=1.41 ? 10(-9)), validate a recently reported association at ITGAX-ITGAM on 16p11.2 (rs7190997, OR=1.22, P=2.26 ? 10(-19)), and identify three independent signals within the DEFA locus (rs2738058, P=1.15 ? 10(-19). '), ('4072', 'OCA2_HERC2', '9p21.3 / ', 'OCA2', 'HERC2', '21926416', '100', 'melanoma\r\r', '', '', '', '', '', '', '', '', 'In a discovery cohort of 1804 melanoma cases and 1026 controls, we identified loci at chromosomes 15q13.1 (HERC2/OCA2 region) and 16q24.3 (MC1R) regions that reached genome-wide significance within this study and also found strong evidence for genetic effects on susceptibility to melanoma from markers on chromosome 9p21.3 in the p16/ARF region and on chromosome 1q21.3 (ARNT/LASS2/ANXA9 region). '), ('4073', 'TERT_CLPTM1L', '5p15.33 / ', 'TERT', 'CLPTM1L', '21949822', '100', 'breast cancer;ovarian cancer\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', ' Genetic variation at the TERT-CLPTM1L locus at 5p15.33 is associated with susceptibility to several cancers, including epithelial ovarian cancer (EOC). '), ('4074', 'RARA_PML', 't(15;17) / ', 'RARA', 'PML', '21859732', '100', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', ' Combined treatment with all-trans-retinoic acid and chemotherapy is extremely efficient in patients with acute promyelocytic leukemia with t(15;17)/PML-RARA, but up to 15% of patients relapse.     ///    Clinical impact of FLT3 mutation load in acute promyelocytic leukemia with t(15;17)/PML-RARA.. '), ('4075', 'IGF2_H19', '11p15.5 / ', 'IGF2', 'H19', '9121769', '100', '', '', '', '', '', '', '', '', '', 'We have also shown that the imprinting of p57(KIP2) occurs independently of the H19/IGF2 domain and thus there must be at least two imprinted domains in 11p15.5. '), ('4076', 'Immunoglobulin _BCL2', 't(14;18)  / ', 'Immunoglobulin ', 'BCL2', '2183011', '100', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' We characterized the basis for the follicular lymphoproliferation in transgenic mice bearing a Bcl-2-immunoglobulin (Bcl-2-Ig) minigene representing the t(14;18) of human follicular lymphoma.     ///    Deregulated Bcl-2-immunoglobulin transgene expands a resting but responsive immunoglobulin M and D-expressing B-cell population.. '), ('4077', 'NUP214_DEK', 'p22;q23 / t(6;9)  / inv(3)  / ', 'NUP214', 'DEK', '19860179', '100', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia;polycythemia vera\r\r', '', '', '', '', '', '', 'KB', '', 'DEK-NUP214, AML with inv(3) (q21q26.2) or t(3. '), ('4078', 'CDKN2B_CDKN2A', '5p15.33 / 9p21.3 / ', 'CDKN2B', 'CDKN2A', '23115063', '100', '', '', 'Kinase', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'In analyses including glioma cases with a family history of brain tumours (n = 104) and control subjects free of glioma at baseline, three of seven SNPs were associated with glioma risk: rs2736100 (5p15.33, TERT), rs4977756 (9p21.3, CDKN2A-CDKN2B) and rs6010620 (20q13.33, RTEL1). '), ('4079', 'WWTR1_CAMTA1', 't(1;3) (p36;q25) / ', 'WWTR1', 'CAMTA1', '25963905', '100', 'epithelioid hemangioendothelioma;epithelioid hemangioendothelioma\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Additionally, recent studies have described a recurrent genetic fusion WWTR1-CAMTA1 in EHE, involving t(1;3) (p36;q25). '), ('4080', 'TEL_AML1', 't(12;21) / t(9;22) / ', 'TEL', 'AML1', '20863384', '100', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Additional Western blots revealed that P-IGF-1R (Tyr1131) and P-IRS-1 (Ser794) levels were higher in NALM6 (Bp-ALL) than CEM (T-ALL), and found differences in IGF-1R signaling within Bp-ALL cell line models NALM6, REH (TEL-AML1, [t(12;21)]), and SupB15 (BCR-ABL, [t(9;22)]). '), ('4081', 'TREM2_DAP12', '6p21.1 / ', 'TREM2', 'DAP12', '19019460', '100', '', '', '', '', '', '', '', '', '', 'The genes of the DAP12-TREM2 signaling receptor are located on 19q13.12 and 6p21.1, to which linkage has been observed also in families affected by another immune-mediated demyelinating disease, MS.     ///    \"To conclude, the DAP12-TREM2 complex unlikely has a role in genetic susceptibility of MS.. \"'), ('4082', 'SSX_SS18', 'p11.2;q11.2 / ', 'SSX', 'SS18', '24130893', '100', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', '18) (p11.2;q11.2) is observed, and SS18-SSX fusion protein expressed by this translocation is reported to be associated with pathogenesis.     ///    \"However, when SS18-SSX was co-expressed with tSSX, localization of SS18-SSX changed from speckle patterns to the diffused pattern similar to the localization pattern of tSSX and SSX. \"    ///    \"We constructed expression plasmids coding for the full length SS18-SSX, the truncated SS18 moiety (tSS18) and the truncated SSX moiety (tSSX) of SS18-SSX, tagged with fluorescent proteins. \"    ///    Our results suggest that the characteristic speckle localization pattern of SS18-SSX is strongly involved in the tumorigenesis through the SSX moiety of the SS18-SSX fusion protein.     ///    The SS18-SSX fusion protein showed a characteristic speckle pattern in the nucleus.     ///    Truncated SSX protein suppresses synovial sarcoma cell proliferation by inhibiting the localization of SS18-SSX fusion protein..     ///    \"In this study, we focused on the localization patterns of SS18-SSX fusion protein. \"'), ('4083', 'RBP2_RBP1', '5p15.2 / 3p14.2 / 8p23.3 / 1p32.3 / ', 'RBP2', 'RBP1', '16004614', '100', 'cervical cancer\r\r', '', '', '', '', '', '', '', '', 'The most common DNA gains detected by array CGH in the invasive samples were located at the RBP1-RBP2 (3q21-q22) genes, the sub-telomeric clone C84C11/T3 (5ptel), D5S23 (5p15.2) and the DAB2 gene (5p13) in 58.8% of the samples. '), ('4084', 'BCL2_IGH', 't(14;18) / ', 'BCL2', 'IGH', '10555759', '100', 'follicular lymphoma;lymphoma\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Consequently, we wondered whether bcl-2/IgH expression variations during treatment of FL could predict the outcome of patients with t(14;18)-bearing FL.     ///    Three-year overall survival of patients with stable bcl2/IgH-negative conversion was 100% compared to 54% for the remaining patients (P = 0.069).     ///    \"In 18 treatment phases, bcl2/IgH expression remained detectable: eight were clinically considered as treatment failures, while eight others achieved PR and two achieved CR. \"    ///    Evolution of BCL-2/IgH hybrid gene RNA expression during treatment of T(14;18)-bearing follicular lymphomas..     ///    \"In all patients but two, bcl-2/IgH gene expression was demonstrated in pre-treatment samples. \"    ///    \"During 16 out of the 34 treatment phases (47%), bcl-2/IgH expression became negative: all but one were responders to chemotherapy. \"    ///    These results indicate a correlation between bcl-2/IgH expression variations and both clinical response and outcome. '), ('4085', 'NPM2_FGF17', '8p21.3 / ', 'NPM2', 'FGF17', '16077960', '100', 'colorectal cancer;ovarian cancer\r\r', '', '', '', '', '', '', '', '', 'FBXW1 (betaTRCP1 or BTRC1)-FGF8-NPM3 locus at human chromosome 10q24.32, FBXW11 (betaTRCP2 or BTRC2)-FGF18-NPM1 locus at human chromosome 5q35.1, and FGF17-NPM2 locus at human chromosome 8p21.3 were paralogous regions within the human genome. '), ('4086', 'PTH_BPA', 't(425)  / t(425) / ', 'PTH', 'BPA', '10617579', '100', '', '', '', '', '', '', '', '', '', 'Unlike the antagonist Bpa(2)-PTHrP, the potent agonist Bpa(2)-PTH, also bearing the Bpa residue in position 2, cross-links only to the S-CH(3) group of Met(425) (similar to Bpa(1)-PTHrP and Bpa(1)-PTH). '), ('4087', 'MLL_AF4', 't(4;11)  / ', 'MLL', 'AF4', '20952059', '100', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Significance of AF4-MLL reciprocal fusion in t(4;11) leukemias?. '), ('4088', 'NUP98_HOXA11', 't(7;11)(p15;p15) / ', 'NUP98', 'HOXA11', '11841413', '100', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 't(7;11)(p15;p15) Chronic myeloid leukaemia developed into blastic transformation showing a novel NUP98/HOXA11 fusion.. '), ('4089', 'TXNDC5_BMP6', '6p24.3 / 6p22.3 / ', 'TXNDC5', 'BMP6', '19694819', '100', '', '', '', '', '', '', '', '', 'Seq', 'Our results provide further evidence that the BMP6-TXNDC5 locus on 6p24.3 may play a role in the selective impairments on sustained attention of schizophrenia..     ///    \"After adjustment using false discovery rate for multiple testing, SNP rs13873 and haplotype rs1225934-rs13873 on BMP6-TXNDC5 genes were significantly associated with schizophrenia for the deficit cluster 1 but not for the deficit cluster 2 or nondeficit cluster. \"'), ('4090', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '22923494', '100', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Identifying regions with a similar epigenetic make up in t(8;21) acute myeloid leukemia (AML) cells, another subtype of AMLs, revealed that these regions are occupied by the oncofusion protein AML1-ETO.     ///    \"Together, our results suggest that oncofusion proteins localize to accessible regions and that chromatin accessibility together with p300 binding and histone acetylation characterize AML1-ETO and PML-RAR? binding sites.. \"    ///    \"Chromatin accessibility, p300, and histone acetylation define PML-RAR? and AML1-ETO binding sites in acute myeloid leukemia.. \"'), ('4091', 'BCR_ABL1', 't(9;22)(q34;q11) / ', 'BCR', 'ABL1', '24623619', '100', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Patients with CNS3 more often had T-ALL (P?<?0.001) and t(9;22)(q34;q11)[BCR-ABL1] (P?<?0.004) compared with patients with CNS1. '), ('4092', 'IL23R_IL12RB2', '1p31.3 / ', 'IL23R', 'IL12RB2', '20622879', '100', '', '', '', '', '', '', '', '', '', 'We identified two suggestive associations on chromosomes 1p31.3 (IL23R-IL12RB2, rs12119179, P = 2.7 x 10(-8)) and 1q32.1 (IL10, rs1554286, P = 8.0 x 10(-8)).     ///    \"A meta-analysis of these two loci with results from additional Turkish and Korean cohorts showed genome-wide significant associations (rs1495965 in IL23R-IL12RB2, P = 1.9 x 10(-11), odds ratio = 1.35. \"    ///    Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Beh?et\'s disease susceptibility loci.. '), ('4093', 'ITGAX_ITGAM', '11p11.2 / 16p11.2 / ', 'ITGAX', 'ITGAM', '26028593', '100', 'IgA nephropathy', '', '', '', '', '', '', '', '', 'Here, we show novel associations at ST6GAL1 on 3q27.3 (rs7634389, odds ratio (OR)=1.13, P=7.27 ? 10(-10)), ACCS on 11p11.2 (rs2074038, OR=1.14, P=3.93 ? 10(-9)) and ODF1-KLF10 on 8q22.3 (rs2033562, OR=1.13, P=1.41 ? 10(-9)), validate a recently reported association at ITGAX-ITGAM on 16p11.2 (rs7190997, OR=1.22, P=2.26 ? 10(-19)), and identify three independent signals within the DEFA locus (rs2738058, P=1.15 ? 10(-19). '), ('4094', 'IGF2_H19', '11p15.5 / ', 'IGF2', 'H19', '23153226', '100', 'polyhydramnios', '', '', '', '', '', '', '', '', 'BWS is speculated to occur primarily as the result of the misregulation of imprinted genes associated with two clusters on chromosome 11p15.5, namely the KvDMR1 and H19/IGF2.     ///    \"We also show that in bovids, differential methylation exists at the KvDMR1 and H19/IGF2 ICRs. \"    ///    \"Based on these findings we conclude that the imprinted gene expression of KCNQ1OT1, CDKN1C, H19, and PLAGL1 and the methylation patterns at the KvDMR1 and H19/IGF2 ICRs are conserved between human and bovine. \"    ///    \"Expression of KCNQ1OT1, CDKN1C, H19, and PLAGL1 and the methylation patterns at the KvDMR1 and H19/IGF2 imprinting control regions is conserved between human and bovine.. \"'), ('4095', 'P57_LIT1', '11p15.5 / ', 'P57', 'LIT1', '12949703', '100', 'Beckwith Wiedemann syndrome\r\r', '', '', '', '', '', '', '', '', ' To clarify the chromatin-based imprinting mechanism of the p57(KIP2)/LIT1 subdomain at chromosome 11p15.5 and the mouse ortholog at chromosome 7F5, we investigated the histone-modification status at a differentially CpG methylated region of Lit1/LIT1 (DMR-Lit1/LIT1), which is an imprinting control region for the subdomain and is demethylated in half of patients with Beckwith-Wiedemann syndrome (BWS). '), ('4096', 'FBXL19_BCL7C', '16p11.2 / ', 'FBXL19', 'BCL7C', '15547684', '100', '', '', '', '', '', '', '', '', '', 'FBXL19-BCL7C locus at chromosome 16p11.2, FBXL10-RHOF-BCL7A locus at chromosome 12q24.31, and FBXL11-RHOD locus at chromosome 11q13.2 were paralogous regions within the human genome. '), ('4097', 'BCR_ABL1', 't(8;21)  / t(8;21) / del(4q)  / t(9;22)  / ', 'BCR', 'ABL1', '21504717', '100', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We conclude that there are rare patients with CML who either present in blast crisis with coexistence of t(9;22) and t(8;21) with or without +8, or progress to blast crisis with acquiring RUNX1-RUNX1T1 in the BCR-ABL1 clone which may or may not be therapy related and represent a later event in a multistep pathogenesis..     ///    Treatment with tyrosine kinase inhibitors did not reduce the BCR-ABL1 fusion positive clone. '), ('4098', 'NUP98_HOXA13', 't(5;11) / t(7;11)(p15;p15) / t(6;11)(q27;q23) / t(6;9)(p22;q34) / ', 'NUP98', 'HOXA13', '23630019', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', '', 'KB', '', 'Interestingly, t(7;11)(p15;p15)/NUP98-HOXA13, t(6;11)(q27;q23)/MLL-MLLT4 and t(6;9)(p22;q34)/DEK-NUP214, which are known as poor prognostic markers, were found in NUP98-NSD1-like patients. '), ('4099', 'NPM_ALK', 't(2;5)  / ', 'NPM', 'ALK', '16103750', '100', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'NPM-ALK, an aberrant fusion protein produced from t(2;5) translocation in anaplastic large cell lymphoma (ALCL), fuses the N-terminus of B23 to the intracellular tyrosine kinase domain of ALK, provoking lymphomas by stimulating various mitogenic proteins including PI 3-kinase and PLC-gamma1. '), ('4100', 'TCF3_PBX1', 't(1;19) / ', 'TCF3', 'PBX1', '19553647', '100', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Risk factors for CNS relapse included the genetic abnormality t(1;19)(TCF3-PBX1), any CNS involvement at diagnosis, and T-cell immunophenotype. '), ('4101', 'RARA_PML', 't(15;17) / t(8;21) / inv (16) / t(16;16) / ', 'RARA', 'PML', '22207733', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'After excluding patients with t(15;17)/PML-RARA, t(8;21)/RUNX1-RUNX1T1, inv (16)/t(16;16)/CBFB-MYH11, and normal karyotype, 824 patients with AML with cytogenetic abnormalities were analyzed. '), ('4102', 'BP2_BP1', '16p13.11 / ', 'BP2', 'BP1', '23032108', '100', '', '', '', '', '', '', '', '', '', 'In addition to known recurrent CNVs such as deletions 15q11.2 (BP1-BP2) and 3q13.31 (including DRD3 and ZBTB20), and duplications 15q13.3 and 16p13.11, our analysis revealed two novel genes clinically relevant for ASDs: ARHGAP24 (4q21.23q21.3) and SLC16A7 (12q14.1). '), ('4103', 'RXRB_RING1', '6p21.3 / ', 'RXRB', 'RING1', '21148756', '100', 'non Hodgkin lymphoma;follicular lymphoma;lymphoma\r\r', '', '', '', '', 'Receptor', '', '', '', 'The three most significant gene regions were on chromosome 6p21.3 (RING1/RXRB.     ///    \"Accordingly, SNPs in RING1/RXRB (rs2855429), AIF1 (rs2857597), and BAT4 (rs3115667) were associated with NHL (P-trends ? 0.0002) and both diffuse large B-cell and follicular lymphomas (P-trends < 0.05). \"'), ('4104', 'BP5_BP4', '16p11.2 / ', 'BP5', 'BP4', '26629640', '100', '', '', '', '', '', '', '', '', '', ' The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as decreased body mass index (BMI). '), ('4105', 'KCNQ1OT1_CDKN1C', '11p15.5 / ', 'KCNQ1OT1', 'CDKN1C', '16575194', '100', 'Beckwith Wiedemann syndrome\r\r', '', 'Kinase', '', '', '', '', '', '', 'The CDKN1C/KCNQ1OT1 imprinted domain, which is one of two imprinted domains at 11p15.5, includes nine imprinted genes regulated by an imprinting center (IC).     ///    The CDKN1C/KCNQ1OT1 IC is a differentially methylated region of KCNQ1OT1(KCNQ1OT-DMR) with DNA methylation on the maternal allele and no methylation on the paternal allele.     ///    \"In this review, we describe recent advances in epigenetic control of the CDKN1C/KCNQ1OT1 imprinted domain in both humans and mice.. \"    ///    \"CDKN1C (alias p57KIP2), an imprinted gene with maternal expression, encoding a cyclin-dependent kinase inhibitor, is a critical gene within the CDKN1C/KCNQ1OT1 domain. \"    ///    Imprinting disruption of the CDKN1C/KCNQ1OT1 domain: the molecular mechanisms causing Beckwith-Wiedemann syndrome and cancer..     ///    \"Imprinting disruption of the CDKN1C/KCNQ1OT1 domain is involved in the development of both BWS and cancer and it changes the maternal epigenotype to the paternal type, leading to diminished CDKN1C expression. \"'), ('4106', 'TWIST1_FERD3L', '7p21.1 / ', 'TWIST1', 'FERD3L', '25808521', '100', 'craniosynostoses;Saethre-Chotzen syndrome', '', '', '', '', '', 'Transcription_Factor', '', '', 'The array-CGH showed a heterozygous 9.0 Mb deletion in the chromosomal region 7p21.1p21.3 encompassing approximately 25 other genes, spanning from THSD7A to TWIST1/FERD3L. '), ('4107', 'P36_P35', '1p36.13 / ', 'P36', 'P35', '12429801', '100', 'hepatocellular carcinoma\r\r', '', '', '', '', '', '', '', '', 'Although comparative genomic hybridization indicated a common deleted region of 1p36-p35 in the current series, microsatellite analysis has refined the smallest overlapping region (SOR) to 1p36.13-p36.22. '), ('4108', 'NPM_MLF1', 't(3;5) / ', 'NPM', 'MLF1', '15861129', '100', '', '', '', '', '', '', '', '', '', ' Myeloid leukemia factor 1 (MLF1) was first identified as the leukemic fusion protein NPM-MLF1 generated by the t(3;5)(q25.1;q34) chromosomal translocation. '), ('4109', 'CASP8_CASP10', '11p15.5 / 9p21.3 / 2p22.2 / 5p15.33 / ', 'CASP8', 'CASP10', '23770605', '100', 'chronic lymphocytic leukemia;leukemia;lymphoma\r\r', '', '', '', 'Tumor_suppressor', '', '', '', '', 'In the meta-analysis, we identified ten independent associated SNPs in nine new loci at 10q23.31 (ACTA2 or FAS (ACTA2/FAS), P=1.22??10(-14)), 18q21.33 (BCL2, P=7.76??10(-11)), 11p15.5 (C11orf21, P=2.15??10(-10)), 4q25 (LEF1, P=4.24??10(-10)), 2q33.1 (CASP10 or CASP8 (CASP10/CASP8), P=2.50??10(-9)), 9p21.3 (CDKN2B-AS1, P=1.27??10(-8)), 18q21.32 (PMAIP1, P=2.51??10(-8)), 15q15.1 (BMF, P=2.71??10(-10)) and 2p22.2 (QPCT, P=1.68??10(-8)), as well as an independent signal at an established locus (2q13, ACOXL, P=2.08??10(-18)). '), ('4110', 'MIR1972-2_FTO', '2p24.1 / ', 'MIR1972-2', 'FTO', '25862352', '100', 'breast cancer\r\r', '', '', '', '', '', '', '', '', 'Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1432679 (EBF1), rs17817449 (MIR1972-2: FTO), rs12710696 (2p24.1), and rs3757318 (ESR1) and adjusted absolute and percent dense areas, respectively. '), ('4111', 'PDGFRB_NDE1', 't(5;16)(q33;p13) / ', 'PDGFRB', 'NDE1', '19737658', '100', 'leukemia\r\r', '', 'Kinase', '', '', 'Receptor', '', '', 'Seq', 'Trisomy 8 in PDGFRB-negative cells in a patient with imatinib-sensitive chronic myelomonocytic leukemia and t(5;16)(q33;p13), PDGFRB-NDE1 fusion.. '), ('4112', 'ASD_ARHGAP24', '16p13.11 / ', 'ASD', 'ARHGAP24', '23032108', '100', '', '', '', '', '', '', '', '', '', 'In addition to known recurrent CNVs such as deletions 15q11.2 (BP1-BP2) and 3q13.31 (including DRD3 and ZBTB20), and duplications 15q13.3 and 16p13.11, our analysis revealed two novel genes clinically relevant for ASDs: ARHGAP24 (4q21.23q21.3) and SLC16A7 (12q14.1). '), ('4113', 'TERT_CLPTM1L', '5p15.33 / ', 'TERT', 'CLPTM1L', '26716642', '100', 'esophageal cancer\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', ' The chromosome 5p15.33 TERT-CLPTM1L region has been identified by genome-wide association studies as a susceptibility locus of multiple malignancies.     ///    The identification of two regulatory ESCC susceptibility genetic variants in the TERT-CLPTM1L loci..     ///    We fine-mapped the TERT-CLPTM1L region through genotyping 15 haplotype-tagging single nucleotide polymorphisms (htSNPs) using a two stage case-control strategy. '), ('4114', 'OCA2_HERC2', '5p13.2 / 6p25.3 / ', 'OCA2', 'HERC2', '25963972', '100', '', '', '', '', '', '', '', '', '', 'In addition, genomic loci at 5p13.2 (SLC45A2), 6p25.3 (IRF4), 15q13.1 (HERC2/OCA2), and 16q24.3 (MC1R) were confirmed to be involved in skin coloration in Europeans. '), ('4115', 'TERT_CLPTM1L', '5p33.15 / ', 'TERT', 'CLPTM1L', '21761138', '100', 'colorectal cancer\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'In a region on 5p33.15, which includes the coding regions of the TERT-CLPTM1L genes and has been identified in GWAS to be associated with susceptibility to at least seven other cancers, we observed a marginally significant association with rs2853668 (replication p value 0.03. '), ('4116', 'RNF144B_ID4', '1p36.12 / 6p22.3 / ', 'RNF144B', 'ID4', '23472165', '100', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'Using an adjusted Bonferoni significance threshold of 4.51??10(-7) we identify two additional loci in our meta-analysis that associate with endometriosis:, RNF144B-ID4 on 6p22.3 (rs6907340. '), ('4117', 'EWS_CHN', 't(9;22) / t(9;22)  / ', 'EWS', 'CHN', '9781944', '100', 'chondrosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Molecular analysis for the EWS-CHN fusion RNA resulting from the t(9;22) was performed in 15 cases (9 EMC and 6 SMC) and was detected in 7 of 9 EMC cases and 0 of 6 SMC cases.     ///    \"In one case, the molecular structure of the EWS-CHN fusion RNA was novel. \"'), ('4118', 'KIAA1546_CXXC4', '2p13.1 / ', 'KIAA1546', 'CXXC4', '15375572', '100', '', '', '', '', '', '', '', '', '', 'CXXC10 locus at 2p13.1, CXXC4-KIAA1546 locus at 4q24, and CXXC6 locus at 10q21.3 were paralogous regions within the human genome.     ///    \"Because CXXC4 and KIAA1546 genes were located in the opposite direction, intragenetic inversion might be generated within the ancestral CXXC4-KIAA1546 locus during evolution. \"    ///    \"This is the first report on CXXC10 gene as well as on the CXXC10, CXXC4-KIAA1546, and CXXC6 paralogs.. \"'), ('4119', 'RUNX1T1_RUNX1', 't(5;8)(q31;q21) / t(8;21) / t(5;8) / ', 'RUNX1T1', 'RUNX1', '19172993', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', ' The chromosome break points of the t(8;21)(q21.3;q22.12) translocation associated with acute myeloid leukemia disrupt the RUNX1 gene (also known as AML1) and the RUNX1T1 gene (also known as CBFA2T3, MTG8 and ETO) and generate a RUNX1-RUNX1T1 fusion protein. '), ('4120', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '24415537', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' Epigenetic modifying enzymes such as histone deacetylases (HDACs), p300, and PRMT1 are recruited by AML1/ETO, the pathogenic protein for t(8;21) acute myeloid leukemia (AML), providing a strong molecular rationale for targeting these enzymes to treat this disease. '), ('4121', 'RARA_PL', 't(15;17) / ', 'RARA', 'PL', '25189308', '100', '', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'Within the study period, 26 patients were diagnosed with APL based on morphology and the detection of t(15;17)(q24.1;q21.1) and promyelocytic leukaemia-retinoic acid receptor alpha (PML-RARA). '), ('4122', 'RUNX1_ETV6', 'p11-13;q11 / ', 'RUNX1', 'ETV6', '26237075', '100', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'In this study, genome-wide methylation analysis, using the Illumina Infinium HumanMethylation450 BeadChip platform, was carried out on 52 diagnostic patient samples from 4 genetic subtypes [ETV6-RUNX1, high hyperdiploidy (HeH), TCF3-PBX1 and dic(9;20)(p11-13;q11)] in a 1:1 case-control design with patients who went on to relapse (as cases) and patients achieving long-term remission (as controls).     ///    We observed significant enrichment of the neuroactive ligand-receptor interaction pathway in TCF3-PBX1 as well as an enrichment of genes involved in immunity and infection pathways in ETV6-RUNX1 subtype.     ///    Our data revealed that ETV6-RUNX1 and dic(9;20) subtypes were mostly associated with hypermethylation. '), ('4123', 'TET2_JAK2', 'del(8) / del(8q) / ', 'TET2', 'JAK2', '25473623', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', 'Tumor_suppressor', '', '', '', '', 'A novel del(8)(q23.2q24.11) contributing to disease progression in a case of JAK2/TET2 double mutated chronic myelomonocytic leukemia.. '), ('4124', 'MLL_AFF1', 't(9;22) / t(1;19) / t(4;11) / ', 'MLL', 'AFF1', '24781017', '100', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'None of the 106 patients with the t(9;22)/BCR-ABL1, t(1;19)/TCF3-PBX1 or t(4;11)/MLL-AFF1 had relapsed after 2 years from completion of therapy. '), ('4125', 'TNFAIP3_A20', 'del(6q23)  / del(7q31) / del(8p) / del(8p)  / del(17p)  / ', 'TNFAIP3', 'A20', '21115979', '100', 'MALT Lymphoma', '', '', '', '', '', '', '', '', 'MALT lymphoma presented significantly more frequently gains at 3p, 6p, 18p, and del(6q23) (TNFAIP3/A20), whereas splenic MZLs was associated with del(7q31), del(8p). '), ('4126', 'P13_P12', '17p11.2 / 19p13.2 / 20p11.2 / ', 'P13', 'P12', '9588877', '100', '', '', '', '', '', '', '', '', '', 'Some of the chromosomal areas with recurrent DNA copy number amplifications (amplicons) of 1p22-p31, 1p32-p36, 1q, 2p13-p16, 2p23-p25, 2q31-q33, 3q, 5p, 6p12-pter, 7p12-p13, 7q11.2, 7q21-q22, 8p11-p12, 8q, 11q13-q14, 12p, 12q13-q21, 13q14, 13q22-qter, 14q13-q21, 15q24-qter, 17p11.2-p12, 17q12-q21, 17q22-qter, 18q, 19p13.2-pter, 19cen-q13.3, 20p11.2-p12, 20q, Xp11.2-p21, and Xp11-q13 and genes therein are presented in more detail. '), ('4127', 'LIT1_DMR', '11p15.5 / ', 'LIT1', 'DMR', '12949703', '100', 'Beckwith Wiedemann syndrome\r\r', '', '', '', '', '', '', '', '', ' To clarify the chromatin-based imprinting mechanism of the p57(KIP2)/LIT1 subdomain at chromosome 11p15.5 and the mouse ortholog at chromosome 7F5, we investigated the histone-modification status at a differentially CpG methylated region of Lit1/LIT1 (DMR-Lit1/LIT1), which is an imprinting control region for the subdomain and is demethylated in half of patients with Beckwith-Wiedemann syndrome (BWS).     ///    Loss of CpG methylation is strongly correlated with loss of histone H3 lysine 9 methylation at DMR-LIT1 in patients with Beckwith-Wiedemann syndrome..     ///    We have also investigated the relationship between CpG methylation and histone H3 Lys9 methylation at DMR-LIT1 in patients with BWS.     ///    \"In a normal individual and in patients with BWS with normal DMR-LIT1 methylation, histone H3 Lys9 methylation was detected on the maternal allele. \"    ///    \"These findings suggest that the histone-modification status at DMR-Lit1/LIT1 plays an important role in imprinting control within the subdomain and that loss of histone H3 Lys9 methylation, together with CpG demethylation on the maternal allele, may lead to the BWS phenotype.. \"    ///    \"Chromatin-immunoprecipitation assays revealed that, in both species, DMR-Lit1/LIT1 with the CpG-methylated, maternally derived inactive allele showed histone H3 Lys9 methylation, whereas the CpG-unmethylated, paternally active allele was acetylated on histone H3/H4 and methylated on H3 Lys4. \"    ///    \"however, it disappeared completely in the patients with the DMR-LIT1 imprinting defect. \"'), ('4128', 'NPM_ALK', 't(2;5)(p23;q35) / t(2;5) / ', 'NPM', 'ALK', '10725869', '100', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'A subset of ALCL as presently defined is characterized by a balanced translocation, t(2;5)(p23;q35), resulting in a novel fusion protein (NPM-ALK) that can be readily detected by immunohistochemical methods using antibodies against the ALK protein. '), ('4129', 'MYST3_CREBBP', 't(8;16)(p11;p13) / ', 'MYST3', 'CREBBP', '15262444', '100', 'leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', '', 'Remission of acute monocytic leukemia, secondary to treatment with epipodophyllotoxins, in a patient with t(8;16)(p11;p13) and MYST3-CREBBP fusion.. '), ('4130', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '8558929', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Persistence of AML1/ETO fusion mRNA in t(8;21) acute myeloid leukemia (AML) in prolonged remission: is there a consensus?. '), ('4131', 'TEL_AML1', 't(9;22)  / t(12;21)  / ', 'TEL', 'AML1', '17003380', '100', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Lower-risk patients were NCI standard risk with either t(12;21) (TEL/AML1) or simultaneous trisomies of chromosomes 4, 10, and 17. '), ('4132', 'ETO_AML1', 't(8;21)  / inv(16)  / t(8;21)(q22;q22) / inv(16)(p13q22) / t(16;16)(p13;q22) / inv(16) / t(16;16) / t(8;21) / del(16)(q22) / t(16;16)  / ', 'ETO', 'AML1', '11331327', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Initial RT-PCR was falsely negative in two patients with inv(16) and falsely positive for AML1/ETO in two and for CBFbeta/MYH11 in another two patients.     ///    \"CBF AML was ultimately identified in 48 patients: 21 had t(8;21) or its variant and AML1/ETO, and 27 had inv(16)/t(16;16), CBFbeta/MYH11, or both. \"    ///    \"Initial cytogenetic results were considered to be false-negative in three AML1/ETO-positive patients with unique variants of t(8;21), and in three CBFbeta/MYH11-positive patients with, respectively, an isolated +22. \"    ///    RT-PCR for AML1/ETO and CBFbeta/MYH11 was performed centrally. '), ('4133', 'RARA_PML', 't(15;17) / ', 'RARA', 'PML', '21078537', '100', '', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Cytogenetic and molecular characterisation has already identified subgroups, such as acute promyelocytic leukaemia (APL) with t(15;17)/PML-RARA and AML with FLT3 mutation for which targeted therapies are available, and further molecularly defined groups who may be potential candidates for this approach are likely to be identified in the future. '), ('4134', 'SULT1A2_SULT1A1', '8p11.23 / ', 'SULT1A2', 'SULT1A1', '26275715', '100', 'breast cancer\r\r', '', '', '', '', '', '', '', '', 'We selected for evaluation 1327 single nucleotide polymorphisms (SNPs) showing the lowest P-values for interaction (P int) in a meta-analysis of genome-wide gene-environment interaction studies with MHT use on risk of breast cancer, 2541 SNPs in candidate genes (AKR1C4, CYP1A1-CYP1A2, CYP1B1, ESR2, PPARG, PRL, SULT1A1-SULT1A2 and TNF) and ten SNPs (AREG-rs10034692, PRDM6-rs186749, ESR1-rs12665607, ZNF365-rs10995190, 8p11.23-rs7816345, LSP1-rs3817198, IGF1-rs703556, 12q24-rs1265507, TMEM184B-rs7289126, and SGSM3-rs17001868) associated with mammographic density in genome-wide studies. '), ('4135', 'INMT-FAM188B_AQP1', '7p14.3 / ', 'INMT-FAM188B', 'AQP1', '22396660', '100', '', '', '', '', '', '', '', '', '', 'P?=?8.51??10?????, odds ratio (OR)?=?1.19), INMT-FAM188B-AQP1 on 7p14.3 (rs1000597. '), ('4136', 'BP5_BP4', '16p11.2 / ', 'BP5', 'BP4', '26413471', '100', '', '', '', '', '', '', '', '', '', 'This study seeks to improve our understanding of the biological basis of behavioral phenotypes common in ASD, in particular the prominent and prevalent disruption of spoken language seen in children with the 16p11.2 BP4-BP5 deletion. '), ('4137', 'BP5_BP4', '16p11.2 / 16p12.2 / ', 'BP5', 'BP4', '24707176', '100', '', '', '', '', '', '', '', '', '', 'These phenotypes are often related to a proximal 16p11.2 deletion of approximately 600 kb (BP4-BP5) that includes the SH2B1 gene that is reported to be causative for morbid obesity. '), ('4138', 'BP4_BP1', '16p11.2 / 16p12.2 / ', 'BP4', 'BP1', '24707176', '100', '', '', '', '', '', '', '', '', '', 'Microarray analysis demonstrated a de novo 970 kb 16p11.2 BP1-BP4 microdeletion that can be regarded as explanatory for his behavioral profile. '), ('4139', 'TNFA_HLAB', '6p21.3 / ', 'TNFA', 'HLAB', '11313318', '100', 'primary sclerosing cholangitis', '', '', '', '', '', '', '', '', ' Recent studies suggest that major histocompatibility complex-encoded susceptibility to primary sclerosing cholangitis (PSC) maps to the HLA B-TNFA region on chromosome 6p21.3. '), ('4140', 'SLC22A18AS_SLC22A18', '11p15.5 / ', 'SLC22A18AS', 'SLC22A18', '18721868', '100', '', '', '', '', '', '', '', '', '', ' The SLC22A18/SLC22A18AS genes are a sense-antisense pair located at human chromosome segment 11p15.5. '), ('4141', 'SLC4A7_NEK10', '1p11.2 / ', 'SLC4A7', 'NEK10', '22053997', '100', 'breast cancer\r\r', '', 'Kinase', '', '', '', '', '', '', 'In BRCA2 carriers, SNPs in FGFR2, TOX3, LSP1, SLC4A7/NEK10, 5p12, 2q35, and 1p11.2 were significantly associated with ER-positive but not ER-negative disease. '), ('4142', 'P36_P32', 'del(1)(p32-p36) / del(19) / ', 'P36', 'P32', '10812170', '100', 'anaplastic oligodendroglioma', '', '', '', '', '', '', '', '', ' We recently identified two genetic subtypes of high-grade oligodendroglial tumors (HG-OT): 1p-/19q- HG-OT are characterized by a loss of chromosome 1p32-36 (del(1)(p32-p36) and/or a del(19)(q13. '), ('4143', 'TEL_PDGFR', 't(5;12)  / ', 'TEL', 'PDGFR', '10445851', '100', '', '', '', '', '', '', '', '', '', ' The TEL/PDGFR beta (T/P) fusion protein isolated from patients bearing a t(5;12) translocation is transforming when expressed in haematopoietic cells.     ///    The oncogenic TEL/PDGFR beta fusion protein induces cell death through JNK/SAPK pathway.. '), ('4144', 'RUNX1T1_RUNX1', 't(15;17) / t(8;21) / ', 'RUNX1T1', 'RUNX1', '21387358', '100', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', '22%) and AML with t(8;21);RUNX1-RUNX1T1 (n?=?2/21. '), ('4145', 'C8orf13_BLK', '8p23.1 / ', 'C8orf13', 'BLK', '21765104', '100', 'systemic lupus erythematosus;arthritis\r\r', '', 'Kinase', '', '', '', '', '', '', 'We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.0001, OR 1.63) from C8orf13-BLK (8p23.1, associated with RA and systemic lupus erythematosus), and rs763361 (p = 0.03) from CD226 (18q22.3, associated with multiple sclerosis and type 1 diabetes) in the Colombian population.     ///    \"Our results demonstrate that the IL2/IL21 region, C8orf13-BLK, and CD226 influence RA in Colombians, and RA shares some of the pathogenic mechanisms associated with other autoimmune diseases.. \"'), ('4146', 'IG_BCL2', 't(14;18)  / ', 'IG', 'BCL2', '2183011', '100', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' We characterized the basis for the follicular lymphoproliferation in transgenic mice bearing a Bcl-2-immunoglobulin (Bcl-2-Ig) minigene representing the t(14;18) of human follicular lymphoma.     ///    Discriminatory S1 nuclease protection assays revealed that the Bcl-2-Ig transgene was overexpressed relative to endogenous mouse Bcl-2 in spleen and thymus. '), ('4147', 'BP3_BP2', '16p11.2 / 16p12.2 / ', 'BP3', 'BP2', '24707176', '100', '', '', '', '', '', '', '', '', '', 'This more centromeric deletion is most strongly related to autism spectrum susceptibility and is functionally different from the more distal 16p12.2p11.2 region, which includes the so-called atypical 16p11.2 BP2-BP3 deletion (approximately 220 kb) presenting with developmental delay, behavioral problems and mild facial dysmorphisms. '), ('4148', 'SH2D3B_FNBP1L', '1p22.1 / 19p13.3 / ', 'SH2D3B', 'FNBP1L', '14654988', '100', '', '', '', '', '', '', '', '', '', 'FNBP1L-SH2D3B locus at human chromosome 1p22.1 was paralogous to GPR108-TRIP10-SH2D3A locus at 19p13.3 and GPR107-FNBP1-SH2D3C locus at 9q34.11-q34.13. '), ('4149', 'NPM_ALK', 't(2;5)  / ', 'NPM', 'ALK', '24616538', '100', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' The NPM-ALK fusion protein is found in ALK(+) anaplastic large cell lymphomas harboring the t(2;5) chromosomal translocation. '), ('4150', 'RUNX1T1_RUNX1', 't(8;21) / ', 'RUNX1T1', 'RUNX1', '24402164', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'High number of additional genetic lesions in acute myeloid leukemia with t(8;21)/RUNX1-RUNX1T1: frequency and impact on clinical outcome..     ///    \"Sixty-nine of 139 cases (49.6%) had 1 mutation in addition to RUNX1-RUNX1T1, and 23/139 (16.5%) had ?2 additional mutations. \"'), ('4151', 'TERT_CLPTM1L', '5p15.33 / ', 'TERT', 'CLPTM1L', '20101243', '100', 'pancreatic cancer\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'A single SNP, rs401681 (P = 3.66 x 10(-7), per-allele OR 1.19, 95% CI 1.11-1.27), maps to the CLPTM1L-TERT locus on 5p15.33, which is associated with multiple cancers. '), ('4152', 'P16_P13', '17p11.2 / 19p13.2 / 20p11.2 / ', 'P16', 'P13', '9588877', '100', '', '', '', '', '', '', '', '', '', 'Some of the chromosomal areas with recurrent DNA copy number amplifications (amplicons) of 1p22-p31, 1p32-p36, 1q, 2p13-p16, 2p23-p25, 2q31-q33, 3q, 5p, 6p12-pter, 7p12-p13, 7q11.2, 7q21-q22, 8p11-p12, 8q, 11q13-q14, 12p, 12q13-q21, 13q14, 13q22-qter, 14q13-q21, 15q24-qter, 17p11.2-p12, 17q12-q21, 17q22-qter, 18q, 19p13.2-pter, 19cen-q13.3, 20p11.2-p12, 20q, Xp11.2-p21, and Xp11-q13 and genes therein are presented in more detail. '), ('4153', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '17560331', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' AML1/ETO results from the t(8;21) associated with 12%-15% of acute myeloid leukemia.     ///    Structural basis for recognition of SMRT/N-CoR by the MYND domain and its contribution to AML1/ETO\'s activity..     ///    \"We demonstrated that a single amino acid substitution that disrupts the interaction between the MYND domain and the SMRT peptide attenuated AML1/ETO\'s effects on proliferation, differentiation, and gene expression.. \"    ///    The AML1/ETO MYND domain mediates interactions with the corepressors SMRT and N-CoR and contributes to AML1/ETO\'s ability to repress proliferation and differentiation of primary bone marrow cells as well as to enhance their self renewal in vitro. '), ('4154', 'TEL_AML1', 't(12;21)(p13;q22) / t(9;22)(q34;q11) / t(15;17)(q22;q12-21) / t(8;21)(q22;q22) / inv(16)(p13q22) / ', 'TEL', 'AML1', '12927891', '100', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Cytogenetic techniques allowing to identify hyperdiplo?dy >50 chromosomes, t(12;21)(p13;q22)/TEL-AML1(ETV6-CBFA2), t(9;22)(q34;q11)/BCR-ABL, 11q23/MLL, t(15;17)(q22;q12-21)/PML-RARalpha, t(8;21)(q22;q22)/AML1-ETO and inv(16)(p13q22)/ CBFbeta/MYH11 are developed. '), ('4155', 'KCNQ1OT1_CDKN1C', '11p15.5 / ', 'KCNQ1OT1', 'CDKN1C', '24322424', '100', 'Beckwith Wiedemann syndrome;Russell-Silver Syndromes', '', 'Kinase', '', '', '', '', '', '', ' The imprinted human 11p15.5 region encompasses two imprinted domains important for the control of fetal growth: the H19/IGF2 domain in the telomeric region and the KCNQ1OT1/CDKN1C domain in the centromeric region. '), ('4156', 'peripherin_RDS', '6p21.2 / ', 'peripherin', 'RDS', '11934323', '100', 'age-related macular degeneration\r\r', '', '', '', '', '', '', '', '', 'The disease locus in this family was mapped to 6p21.2, the region of the RDS/peripherin gene.     ///    \"This study describes a new RDS/peripherin mutation for BPD and provides the first combined genetic-pathological study of this condition, to our knowledge. \"    ///    \"Further analysis identified a G-->A change at nucleotide position 637 of RDS/peripherin, predicting a novel Cys213Tyr substitution in all affected members of the family. \"'), ('4157', 'P14_P12', '3p21.2 / ', 'P14', 'P12', '11759061', '100', 'neuroectodermal tumor;squamous cell carcinoma', '', '', '', '', '', '', '', '', 'Of 10 epithelial samples showing losses within 11p14-p12, 8 also displayed losses within 3p21.2-p14.2, suggesting a concurrent involvement of these loci in tumor development or progression. '), ('4158', 'RUNX1_ETV6', 't(12;21)  / t(1;19)  / ', 'RUNX1', 'ETV6', '21152005', '100', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Folylpolyglutamate synthetase (FPGS) activity was higher in B vs T lineage ALL (p<0.005), MTX influx and FPGS activity were higher in hyperdiploid vs non-hyperdiploid ALL (p<0.03), MTX influx and FPGS activity were lower in the t(12;21) (ETV6-RUNX1) subtype (p<0.05), and the ratio of FPGS to ?-glutamyl hydrolase (GGH) activity was lower in the t(1;19) (TCF3-PBX1) subtype (p<0.03) than other genetic subtypes. '), ('4159', 'NUP214_DEK', 't(6;9) / t(15;17) / t(8;21) / ', 'NUP214', 'DEK', '25568664', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', 'KB', '', 'The activation of STAT5 by PML/RAR? and DEK/NUP214 was confirmed in t(15;17)(PML/RAR?) and t(6;9)(DEK/NUP214)-positive patients as compared to normal CD34+ cells.     ///    \"Until now the biology of AML-associated fusion proteins (AAFPs), such as the t(15;17)-PML/RAR?, t(8;21)-RUNX1/RUNX1T1 and t(6;9)-DEK/NUP214, all able to induce AML in mice, was investigated in different models and genetic backgrounds, not directly comparable to each other. \"    ///    \"These AAFPs exerted differential effects on HSCs and PML/RAR?, similar to DEK/NUP214, induced a leukemic phenotype from a small subpopulation of HSCs with a surface marker pattern of long-term HSC and characterized by activated STAT3 and 5. \"    ///    The activation of STAT5 was reduced upon the exposure to Arsenic which was accompanied by apoptosis in both PML/RAR?- and DEK/NUP214-positive leukemic cells. '), ('4160', 'NUP214_DEK', 't(5;11) / t(7;11)(p15;p15) / t(6;11)(q27;q23) / t(6;9)(p22;q34) / ', 'NUP214', 'DEK', '23630019', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', '', 'Interestingly, t(7;11)(p15;p15)/NUP98-HOXA13, t(6;11)(q27;q23)/MLL-MLLT4 and t(6;9)(p22;q34)/DEK-NUP214, which are known as poor prognostic markers, were found in NUP98-NSD1-like patients. '), ('4161', 'ZSCAN20_TLR12P', 'Chr1p35.1 / Chr8p23.1 / ', 'ZSCAN20', 'TLR12P', '26629533', '100', '', '', '', '', '', '', '', '', '', 'This GWAS on diabetic neuropathic pain provides evidence for the sex-specific involvement of Chr1p35.1 (ZSCAN20-TLR12P) and Chr8p23.1 (HMGB1P46) with the disorder, indicating the need for further research..     ///    A Genome-wide Association Study Provides Evidence of Sex-specific Involvement of Chr1p35.1 (ZSCAN20-TLR12P) and Chr8p23.1 (HMGB1P46) With Diabetic Neuropathic Pain..     ///    \"We found a cluster in the Chr1p35.1 (ZSCAN20-TLR12P) with a lowest P value of 2.74 ? 10(- 7) at rs71647933 in females and a cluster in the Chr8p23.1, next to HMGB1P46 with a lowest P value of 8.02 ? 10(- 7) at rs6986153 in males. \"'), ('4162', 'MANEA_EPHA10', '1p34.3 / ', 'MANEA', 'EPHA10', '16596241', '100', 'duodenal cancer', '', 'Kinase', '', '', '', '', '', '', 'EPHA7-MANEA-FHL5 locus at human chromosome 6q16.1 and EPHA10-MANEAL-FHL3 locus at human chromosome 1p34.3 were paralogous regions within the human genome. '), ('4163', 'EWS_CHOP', '', 'EWS', 'CHOP', '12169678', '99', 'liposarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Here we describe a novel type of EWS-CHOP fusion gene in two cases of MLS/RCLS, which were found in a consecutive analysis of 21 cases.     ///    A novel type of EWS-CHOP fusion gene in two cases of myxoid liposarcoma..     ///    \"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. \"'), ('4164', 'SYT_SSX1', '', 'SYT', 'SSX1', '10889911', '99', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Subsequent sequence analysis confirmed that the detected messages were derived from the SYT-SSX1 fusion gene in two cases and from SYT-SSX2 in one. '), ('4165', 'MYC_IGH', 't(8;14)  / ', 'MYC', 'IGH', '17541401', '99', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'We analyzed the genomic structure of MYC/IGH fusions derived from a large series of 78 patients with t(8;14) and asked (i) whether distinct breakpoint clusters exist within the MYC gene and (ii) whether any pairwise association between particular IGH and MYC breakpoints exist. '), ('4166', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '19175284', '99', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Both areas showed diffuse nuclear expression for myogenin, and both areas expressed the PAX3-FKHR fusion gene, a genetic change associated with alveolar but not embryonal RMS. '), ('4167', 'MLL_LAF4', '', 'MLL', 'LAF4', '12661012', '99', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Occurrence of an MLL/LAF4 fusion gene caused by the insertion ins(11;2)(q23;q11.2q11.2) in an infant with acute lymphoblastic leukemia.. ');
INSERT INTO `ChimerPub_dump` VALUES ('4168', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '18005119', '99', 'dermatofibrosarcoma protuberans;sarcoma\r\r', '', '', 'Oncogene', '', '', '', 'KB', '', 'Atrophic dermatofibrosarcoma protuberans with the fusion gene COL1A1-PDGFB.. '), ('4169', 'MLL_KIAA0284', '', 'MLL', 'KIAA0284', '19254855', '99', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'A second case of secondary acute myeloblastic leukemia associated with the MLL-KIAA0284 fusion gene.. '), ('4170', 'EML4_ALK', '', 'EML4', 'ALK', '21102267', '99', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Good response to gefitinib in lung adenocarcinoma harboring coexisting EML4-ALK fusion gene and EGFR mutation.. '), ('4171', 'EML4_ALK', '', 'EML4', 'ALK', '24388371', '99', 'non small cell lung cancer;squamous cell carcinoma;lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'A specific ALK inhibitor has been shown to exert anti-tumor effects in NSCLC with the EML4-ALK fusion gene.    ///    The tumor specimens were examined by immunohistochemistry for the EML4-ALK fusion gene and by polymerase chain reaction for epidermal growth factor receptor (EGFR) mutations.    ///    The EML4-ALK fusion gene was further detected in 2 cases of undifferentiated cell carcinoma.     ///    \"EML4-ALK fusion gene examinations could be more effectively performed by selecting young NSCLC patients without EGFR mutations, whereas selection on the basis of a non-smoking or adenocarcinoma history, as reported in previous studies, may not correctly identify the patient groups with potential EML4-ALK fusion gene.. \"    ///    Effective enrichment strategy for EML4-ALK fusion gene screening in patients with non-small cell lung cancer..     ///    \"Between January 2004 and September 2011, the EML4-ALK fusion gene was detected in 19.6% (9/46) of patients. \"    ///    \"Previous reports suggested an EML4-ALK incidence of approximately 5% in a pan-NSCLC population, with an increased frequency in younger patients, but an appropriate strategy for further selecting patients with the EML4-ALK fusion gene remains unknown. \"'), ('4172', 'EWS_E1AF', '', 'EWS', 'E1AF', '9738976', '99', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Molecular analysis of Ewing\'s sarcoma: another fusion gene, EWS-E1AF, available for diagnosis.. '), ('4173', 'EML4_ALK', '', 'EML4', 'ALK', '26767009', '99', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Patients with the EML4-ALK fusion gene were significantly younger (P< 0.001).    ///    The optimal time lag from the obtainment of the pathological tissue to the time of EML4-ALK fusion gene detection is ?48 months..    ///    The detection rate of the EML4-ALK fusion gene in patients who received primary tumor or metastatic lymph node resection was significantly higher than in patients who received fine-needle biopsy (P= 0.003).     ///     The echinoderm microtubule-associated protein-like-4-anaplastic lymphoma kinase (EML4-ALK) fusion gene defines a novel molecular subset of non-small-cell lung cancer (NSCLC).     ///    \"However, the clinicopathological features of patients with the EML4-ALK fusion gene have not been defined completely. \"    ///    \"The EML4-ALK fusion gene was detected in 56 (28.0%) of the 200 NSCLC patients, and undetected in 22 (11.0%) patients because of an insufficient amount of pathological tissue. \"    ///    Younger age and wild-type EGFR were identified as clinicopathological characteristics of patients with advanced NSCLC who harbored the EML4-ALK fusion gene.     ///    The occurrence of the EML4-ALK fusion gene in patients with wild-type epidermal growth factor receptor (EGFR) was significantly higher than in patients with mutant-type EGFR (42.5% [37/87] vs.     ///    The detection rate of the EML4-ALK fusion gene in patients with a time lag from obtainment of the pathological tissue to EML4-ALK fusion gene detection ?48 months was significantly higher than in patients >48 months (P= 0.020).     ///    Clinicopathological data of 200 Chinese patients with advanced NSCLC were analyzed retrospectively to explore their possible correlations with EML4-ALK fusions.    ///    \"The median age of the patients with positive and negative EML4-ALK was 48 and 55 years, respectively. \"'), ('4174', 'FLI_EWS', '', 'FLI', 'EWS', '9882513', '99', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' The Ewing\'s sarcoma cell line RD-ES, which carries the EWS/FLI-1 fusion gene, responded to the 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase inhibitor lovastatin with growth arrest.     ///    Possible mechanisms underlying TM-induced decrease in EWS/FLI-1 expression may involve the breaking of growth factor receptor pathways..     ///    \"Furthermore, the kinetics between the expression of EWS/FLI-1 fusion protein and the initiation of DNA synthesis in MVA-stimulated cells were similar. \"    ///    \"Taken together, our data suggest that the regulatory role of N-linked glycosylation in the expression of the EWS/FLI-1 fusion protein is important for growth of Ewing\'s sarcoma cells. \"    ///    \"We investigated whether MVA synthesis and N-linked glycosylation could be involved in regulation of the expression of the EWS/FLI-1 fusion protein, which in fact contains four potential sites for N-linked glycosylation. \"    ///    \"Inhibition of the biosynthesis of EWS/FLI-1 fusion protein by treatment with antisense oligonucleotides also led to growth arrest, suggesting that this protein is of importance for cell growth. \"    ///    Regulatory role of mevalonate and N-linked glycosylation in proliferation and expression of the EWS/FLI-1 fusion protein in Ewing\'s sarcoma cells.. '), ('4175', 'PAX3_FOXO1', '', 'PAX3', 'FOXO1', '22454413', '99', 'rhabdomyosarcoma;sarcoma\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'A combined clinical and molecular risk-stratification scheme that incorporated the PAX3/FOXO1 fusion gene status was derived from 287 patients with RMS and evaluated.    ///    A combined clinical and molecular risk-stratification scheme that incorporated the PAX3/FOXO1 fusion gene status was derived from 287 patients with RMS and evaluated.     ///    \"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. \"    ///    PAX3/FOXO1 fusion gene status is the key prognostic molecular marker in rhabdomyosarcoma and significantly improves current risk stratification..     ///    A continuous risk score derived from the combination of clinical parameters with the presence or absence of PAX3/FOXO1 represents a robust approach to improving current risk-adapted therapy for RMS..     ///    \"Among nonmetastatic patients, patients who were PAX3/FOXO1 positive had a significantly poorer outcome compared with both alveolar-negative and PAX7/FOXO1-positive patients. \"'), ('4176', 'TEL_AML1', '', 'TEL', 'AML1', '12200711', '99', '', '', '', '', '', '', '', '', '', 'Additional evidence of genetic changes in children with ALL and TEL/AML1 fusion gene.. '), ('4177', 'EML4_ALK', '', 'EML4', 'ALK', '22989458', '99', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Moreover, in 2007 the existence of the echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase (EML4-ALK) fusion gene was discovered in NSCLC, and the same as EGFR-TKIs, ALK inhibitors are being found to be highly effective in lung cancers.    ///    \"Moreover, in 2007 the existence of the echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase (EML4-ALK) fusion gene was discovered in NSCLC, and the same as EGFR-TKIs, ALK inhibitors are being found to be highly effective in lung cancers. \"'), ('4178', 'EML4_ALK', '', 'EML4', 'ALK', '23787064', '99', 'small cell lung cancer', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'However, the presence of an EML4-ALK fusion gene in other lung cancer histologies is an extremely rare phenomenon.     ///    An extremely rare case of small-cell lung cancer harboring variant 2 of the EML4-ALK fusion gene..     ///    \"Surprisingly, the tumor was genetically considered to harbor the EML4-ALK fusion gene (variant 2). \"    ///    \"However, the presence of an EML4-ALK fusion gene in other lung cancer histologies is an extremely rare phenomenon.\"    ///    \"Our analysis of 30 consecutive patients with SCLC for EML4-ALK revealed that two patients, including the current patient and a patient we previously reported, harbored the EML4-ALK fusion gene. \"    ///    \"Our analysis of 30 consecutive patients with SCLC for EML4-ALK revealed that two patients, including the current patient and a patient we previously reported, harbored the EML4-ALK fusion gene.\"'), ('4179', 'EML4_ALK', '', 'EML4', 'ALK', '23609245', '99', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'EGFR mutations and EML4-ALK fusion gene could be evaluated in all patients with non-small cell lung cancer (n=20) using EUS-B-FNA samples.     ///    Epidermal growth factor receptor (EGFR) mutations and echinoderm microtubule-associated protein-like 4 and the anaplastic lymphoma kinase (EML4-ALK) fusion gene were evaluated using EUS-B-FNA samples of non-small cell lung cancer. '), ('4180', 'FLI_EWS', '', 'FLI', 'EWS', '11117787', '99', 'esthesioneuroblastoma;lymphoblastic lymphomas', '', '', '', '', '', '', '', '', 'Although the EWS/FLI-1 fusion gene is specific for ES/PNET, FLI-1 protein expression is not.     ///    \"It is not surprising that some ES/ PNET are FLI-1-negative, because not all ES/PNET have the classic EWS/FLI-1, and some cases of ES/PNET may produce either low levels of protein or idiotypically different protein.. \"'), ('4181', 'MAML2_CRTC1', '', 'MAML2', 'CRTC1', '19521953', '99', 'mucoepidermoid carcinoma\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'MECs are often characterized by the fusion gene CRTC1-MAML2, the detection of which is an important tool for the diagnosis and prognosis of MEC.     ///    \"For detection of the CRTC1-MAML2 fusion transcript, we performed RT-PCR. \"    ///    \"For detection of the CRTC1-MAML2 fusion transcript, we performed RT-PCR.\"    ///    \"A link between the expression of the stem cell marker HMGA2, grading, and the fusion CRTC1-MAML2 in mucoepidermoid carcinoma.. \"    ///    \"These findings offer further evidence for the theory that the MEC group comprises two subgroups: one group with the CRTC1-MAML2 fusion, which is a group with a moderate aggressiveness and prognosis, and the other group lacking that fusion corresponding to an increased stemness, and thus, higher aggressiveness and worse prognosis.. \"    ///    \"A significant difference was found in the HMGA2 expression levels between the different grading groups (one-way ANOVA, P = 0.04) and among the fusion-negative and -positive tumors (t-test, P = 0.05), indicating that the expression level of HMGA2 was closely linked to grading, the presence/absence of the CRTC1-MAML2 fusion, and the tumor behavior of MECs. \"    ///    \"A link between the expression of the stem cell marker HMGA2, grading, and the fusion CRTC1-MAML2 in mucoepidermoid carcinoma.\"'), ('4182', 'EWS_ERG', '', 'EWS', 'ERG', '18459906', '99', 'intestinal cancer', '', '', '', '', '', '', '', '', 'The authors report on a child who presented with intracranial bleeding secondary to a nonmetastatic tentorial ESFT confirmed by detection of the fusion gene EWS-ERG. '), ('4183', 'NUP214_ABL1', '', 'NUP214', 'ABL1', '19166098', '99', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', '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.     ///    NUP214-ABL1 and EML1-ABL1 display constitutive kinase activity and are sensitive to the kinase inhibitor imatinib.     ///    Both proteins transform hematopoietic cells and we established mouse models of EML1-ABL1 and NUP214-ABL1 induced T-ALL.     ///    We therefore combined NUP214-ABL1 inhibition with other therapies and show that inhibition of NUP214-ABL1 and NOTCH1 in vitro can result in synergistic effects.     ///    \"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. \"    ///    These results for NUP214-ABL1 delineate a novel mechanism for fusion kinase activation in cancer and provide new options to interfere with NUP214-ABL1 activity. '), ('4184', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '12561432', '99', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' There were a few reports about the role of PAX3-FKHR fusion gene in the oncogenesis of alveolar rhabdomyosarcoma (ARMS).     ///    This study was designed to observe the effects of fusion gene PAX3-FKHR transfection on expression of MRF4 and differentiation of cultured human rhabdomyosarcoma RD cells.     ///    \"PAX3-FKHR does not inhibit the expression of MRF4, but can reverse the effect of MRF4 on promoting the differentiation of RD cell.. \"    ///    the plasmids of MRF4 cDNA and PAX3-FKHR cDNA were transfected into cultured RD cells with lipofectin methods.     ///    To construct an eukaryotic expression vector of PAX3-FKHR gene.     ///    \"There was no significant changes in RD cells after transfection with PAX3-FKHR gene in growth rate, growth manner and the expression of MHC and alpha-actin. \"    ///    \"In MRF4 expressing RD cells after transfected with PAX3-FKHR, although the expression of MRF4 was not changed, morphologic appearance showed a low differentiation. \"    ///    [Influences of PAX3-FKHR transfection on expression of MRF4 and differentiation of cultured human rhabdomyosarcoma RD cells]..     ///    There is no obvious influence on biological character and differentiation in RD cells with transfection of PAX3-FKHR gene. '), ('4185', 'TEL_AML1', '', 'TEL', 'AML1', '8751475', '99', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'TEL/AML1 fusion gene is a rare event in adult acute lymphoblastic leukemia.. '), ('4186', 'EML4_ALK', '', 'EML4', 'ALK', '21245935', '99', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase (EML4-ALK) fusion gene resulting from an inversion within chromosome 2p occurs in approximately 5% of non-small cell lung cancer and is mutually exclusive with Ras and EGFR mutations.    ///     The echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase (EML4-ALK) fusion gene resulting from an inversion within chromosome 2p occurs in approximately 5% of non-small cell lung cancer and is mutually exclusive with Ras and EGFR mutations.     ///    \"We show here that TAE684 inhibits proliferation and induces cell cycle arrest, apoptosis, and tumor regression in two NSCLC models that harbor EML4-ALK fusions.\"    ///    \"We also compared the effect of TAE684 with PF2341066, a c-Met and ALK small molecule inhibitor currently in clinical trial in cancers harboring ALK fusions, and demonstrated that TAE684 is a much more potent inhibitor of EML4-ALK. \"    ///    \"In this study, we have used a potent and selective ALK small molecule inhibitor, NPV-TAE684, to assess the oncogenic role of EML4-ALK in non-small cell lung cancer (NSCLC). \"    ///    We used microarray analysis to carry out targeted pathway studies of gene expression changes in H2228 NSCLC xenograft model after TAE684 treatment and identified a gene signature of EML4-ALK inhibition.     ///    \"TAE684 inhibits EML4-ALK activation and its downstream signaling including ERK, AKT, and STAT3. \"    ///    Our data demonstrate that EML4-ALK plays an important role in the pathogenesis of a subset of NSCLC and provides insight into the mechanism of EML4-ALK inhibition by a small molecule inhibitor..     ///    \"We show here that TAE684 inhibits proliferation and induces cell cycle arrest, apoptosis, and tumor regression in two NSCLC models that harbor EML4-ALK fusions. \"    ///    Evaluation of EML4-ALK fusion proteins in non-small cell lung cancer using small molecule inhibitors.. '), ('4187', 'EML4_ALK', '', 'EML4', 'ALK', '23181703', '99', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We report a 39-year-old patient diagnosed as adenocarcinoma harboring EGFR mutation and EML4-ALK fusion gene.     ///    A case of lung adenocarcinoma harboring EGFR mutation and EML4-ALK fusion gene..     ///    We experienced a rare case with EGFR mutation and EML4-ALK.     ///    Patients who harbor EML4-ALK fusions have been associated with a lack of EGFR or KRAS mutations. '), ('4188', 'EML4_ALK', '', 'EML4', 'ALK', '18594010', '99', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'EML4-ALK fusion gene and efficacy of an ALK kinase inhibitor in lung cancer..     ///     The EML4-ALK fusion gene has been detected in approximately 7% of Japanese non-small cell lung cancers (NSCLC).     ///    \"We detected four different variants, including two novel variants, of EML4-ALK using reverse transcription-PCR in 8 of 305 tumors (3%) and 3 of 83 (3.6%) NSCLC cell lines. \"    ///    We determined the frequency of EML4-ALK in Caucasian NSCLC and in NSCLC cell lines.     ///    EML4-ALK was detected more frequently in NSCLC patients who were never or light (<10 pack-years) cigarette smokers compared with current/former smokers (6% versus 1%.     ///    \"In another EML4-ALK cell line, DFCI032, TAE684 was ineffective due to coactivation of epidermal growth factor receptor and ERBB2. \"    ///    EML4-ALK is found in the minority of NSCLC.     ///    ALK kinase inhibitors alone or in combination may nevertheless be clinically effective treatments for NSCLC patients whose tumors contain EML4-ALK..     ///    EML4-ALK was detected more frequently in NSCLC patients who were never or light (<10 pack-years) cigarette smokers compared with current/former smokers (6% versus 1%; P = 0.049).'), ('4189', 'RET_KIF5B', '', 'RET', 'KIF5B', '24722163', '99', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Experience with erlotinib in lung adenocarcinoma harboring a coexisting KIF5B-RET fusion gene and EGFR mutation: report of a rare case.. '), ('4190', 'EML4_ALK', '', 'EML4', 'ALK', '25676402', '99', 'T cell lymphoma', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'But the report that malignant lymphoma complicated with lung adenocarcinoma harboring EML4-ALK fusion gene in one individual is rare.     ///    Echinoderm microtubule associated protein like 4 anaplastic lymphoma kinase (EML4-ALK) as a new biological marker is a hot topic in the field of lung cancer treatment.    ///    [A case report: an EML4-ALK positive lung adenocarcinoma diagnosed ?with lymphoma previously]..     ///    \"Here, we report an EML4-ALK positive non-small cell lung cancer (NSCLC) in a patient previously diagnosed with T cell lymphoma and review literature on metachronous lung cancer complicating with lymphoma. \"'), ('4191', 'SYT_SSX2', '', 'SYT', 'SSX2', '15330802', '99', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'One biphasic tumour had a SYT-SSX2 fusion gene. '), ('4192', 'TEL_AML1', '', 'TEL', 'AML1', '10049055', '99', '', '', '', '', '', '', '', '', '', ' The presence of TEL/AML1 fusion gene in childhood acute lymphoblastic leukaemia (ALL) defines a subgroup of patients with better than average outcome.     ///    \"Moreover, we demonstrate different patterns of bone marrow clean-up in TEL/AML1-positive patients.. \"    ///    TEL/AML1 positivity in childhood ALL: average or better prognosis? Czech Paediatric Haematology Working Group..     ///    Interim analysis of the minimal residual disease (MRD) detection shows heterogeneity within the group of newly diagnosed TEL/AML1-positive leukaemias--10 out of 24 patients tested at the end of induction therapy had detectable levels of MRD.     ///    \"From March 1995 to June 1998, 41 out of 190 (21.6%) newly diagnosed children with ALL were TEL/AML1-positive. \"    ///    \"In conclusion, we corroborate low frequency of TEL/AML1 positivity among relapsed patients with ALL among Czech children who are treated by the BFM protocols. \"    ///    There is a statistically significant difference between the incidence of TEL/AML1 fusion at diagnosis and at relapse within our group (P = 0.035). '), ('4193', 'MALT1_API2', '', 'MALT1', 'API2', '17570523', '99', 'MALT lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Successful radiotherapy in a patient with primary rectal mucosa-associated lymphoid tissue lymphoma without the API2-MALT1 fusion gene: a case report and review of the literature..     ///    \"The patient was negative for API2-MALT1 gene, and radiotherapy was performed and CR was achieved. \"'), ('4194', 'EML4_ALK', '', 'EML4', 'ALK', '24156959', '99', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The discovery of EML4-ALK fusion gene in a subgroup of patients with lung adenocarcinoma led to the development of a new class of agents, the ALK inhibitors, and dramatically improved the clinical outcome of these patients.     ///    \"In the current review, we will analyze the biology of EML4-ALK gene, the acquired resistance mechanisms to crizotinib, the therapeutic strategies, currently under evaluation, designed to overcome crizotinib resistance, and the open issues that need to be addressed in order to improve outcome in ALK+ Non Small Cell Lung Cancer (NSCLC) patients.\"    ///    \"In the current review, we will analyze the biology of EML4-ALK gene, the acquired resistance mechanisms to crizotinib, the therapeutic strategies, currently under evaluation, designed to overcome crizotinib resistance, and the open issues that need to be addressed in order to improve outcome in ALK+ Non Small Cell Lung Cancer (NSCLC) patients. \"'), ('4195', 'PAX3_FOXO1A', '', 'PAX3', 'FOXO1A', '12550764', '99', 'rhabdomyosarcoma;fibrous histiocytoma;osteosarcoma;sarcoma;histiocytoma\r\r', '', '', '', '', '', '', '', '', 'In addition, one of the cases classified as PRMS showed evidence for the presence of a PAX3-FOXO1A fusion gene, which is characteristic of the alveolar subtype of RMS..     ///    Chromosomal imbalances in pleomorphic rhabdomyosarcomas and identification of the alveolar rhabdomyosarcoma-associated PAX3-FOXO1A fusion gene in one case.. '), ('4196', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '19212337', '99', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Chronic eosinophilic leukemia (CEL) is a rare myeloproliferative neoplasm characterized by the FIP1L1-PDGFRA fusion gene, variant PDGFRA fusions or other genetic lesions.     ///    Most FIP1L1-PDGFRA positive patients enjoy durable and complete molecular responses to low-dose imatinib (Glivec/Gleevec). '), ('4197', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '19039198', '99', 'rhabdomyosarcoma;sarcoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'The patient was positive for the PAX3-FKHR fusion gene. '), ('4198', 'RUNX1_PRDM16', '', 'RUNX1', 'PRDM16', '16900497', '99', 'myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Overexpression of PRDM16 in the presence and absence of the RUNX1/PRDM16 fusion gene in myeloid leukemias.. '), ('4199', 'MALT1_API2', '', 'MALT1', 'API2', '16078567', '99', 'MALT lymphoma;lymphoma\r\r', 'PCR', '', '', '', '', '', '', '', ' To investigate the expression of API2-MALT1 fusion gene mRNA in Hashimoto\'s thyroiditis, thyroid MALT lymphoma and DLBCL, as well as the correlation between the expression and the pathogenesis and prognosis of two types of thyroid lymphoma.     ///    [Detecting the API2-MALT1 fusion gene and its significance in Hashimoto\'s thyroiditis and thyroid lymphomas]..     ///    \"however, the correlation between API2-MALT1 fusion gene and the progression from Hashimoto\'s thyroiditis to lymphoma could not be excluded. \"    ///    The effect of API2-MALT1 fusion gene on the prognosis of thyroid lymphomas was assessed by analyzing the clinicopathological features and the follow-up findings.     ///    The incidence of API2-MALT1 transcript in thyroid lymphomas was low.     ///    the thyroid lymphoma with API2-MALT1 transcript seemed to develop on a more indolent clinical course..     ///    API2-MALT1 transcripts were investigated in all cases by reverse transcript touchdown-PCR and nested PCR. '), ('4200', 'SYT_SSX1', '', 'SYT', 'SSX1', '18642280', '99', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The pathological diagnosis was confirmed by detecting the SS-specific fusion gene SYT-SSX1. '), ('4201', 'KIAA1549_BRAF', '', 'KIAA1549', 'BRAF', '24529209', '99', 'ganglioglioma;infratentorial tumor;pilocytic astrocytoma;supratentorial tumor', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Molecular genetic analysis revealed BRAF duplication and a KIAA1549-BRAF fusion gene in 82% of group II tumors, but in none of the group I tumors, and a BRAF:p.V600E mutation in 43% of group I tumors, but in none of the group II tumors. '), ('4202', 'ROS1_GOPC', '', 'ROS1', 'GOPC', '22163003', '99', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'An LMP harboured a homozygous deletion on chr6 which created a GOPC-ROS1 fusion gene, previously reported as oncogenic in other cancer types. '), ('4203', 'EML4_ALK', '', 'EML4', 'ALK', '22323876', '99', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'EML4-ALK fusion genes have been detected in 10 (6.0%) of 167 patients of NSCLCs and in 9 (7.4%) of 121 patients of adenocarcinoma.     ///    EML4-ALK fusion gene in Korean non-small cell lung cancer..     ///    \"Although a few studies have evaluated EML4-ALK fusion genes in Korean NSCLCs, the prevalence of different EML4-ALK fusion variants has yet to be clearly assessed. \"    ///    These results indicate that the profiles of EML4-ALK fusion gene variants in Korean patients of NSCLC may differ from those in other ethnic populations.     ///    \"Herein, we have examined the profiles of EML4-ALK fusion gene variants in Korean patients of NSCLCs. \"    ///    \"Herein, we describe for the first time the profiles of EML4-ALK fusion variants of Korean patients with NSCLCs.. \"'), ('4204', 'MALT1_API2', '', 'MALT1', 'API2', '15071907', '99', 'MALT lymphoma;B cell lymphoma;lymphoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', '[The expression of API2-MALT1 fusion gene and its influence on the cellular apoptosis and proliferation in gastrointestinal MALT lymphoma]..     ///    API2-MALT1 fusion gene mRNA was found in 16 of specimens with gastrointestinal MALT lymphoma.     ///    \" To investigate the expression of API2-MALT1 fusion gene mRNA and its effect on protein of API2, Caspase3 and Ki67 in gastrointestinal MALT lymphoma (Extranodal marginal zone B cell lymphoma of mucosa-associated lymphoid tissue). \"    ///    The mRNA of API2-MALT1 fusion transcript was assayed in 33 archival cases of gastrointestinal MALT lymphoma by RT-PCR and nested PCR.     ///    \"The average area (21177.30 +/- 6171.72) micron 2 and single cell average area (29.81 +/- 7.40) micron 2 of API2 were decreased in the group with the expression of API2-MALT1 mRNA, compared with those in the group without the expression of API2-MALT1 mRNA [(34325.65 +/- 6577.00) micron 2, (37.84 +/- 8.55) micron 2]. \"    ///    The expression of API2-MALT1 mRNA is unrelated to the cellular proliferation..     ///    \"The expression of API2-MALT1 is related to the down-regulated expression of protein of API2, its effect on apoptosis of MALT lymphoma remains to be detected further. \"    ///    \"According to the expression of API2-MALT1 mRNA or not, 33 cases of MALT lymphoma were divided into two groups. \"'), ('4205', 'EML4_ALK', '', 'EML4', 'ALK', '23769348', '99', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'After epidermal growth factor receptor tyrosine kinase inhibitor (EGFR-TKIs), crizotinib targeted at EML4-ALK fusion gene becomes a significant drug of molecular targeted therapy in NSCLC.    ///    \"After epidermal growth factor receptor tyrosine kinase inhibitor (EGFR-TKIs), crizotinib targeted at EML4-ALK fusion gene becomes a significant drug of molecular targeted therapy in NSCLC. \"    ///    \"Phase I and II clinical trials prove that crizotinib is effective for treatment of activating EML4-ALK mutation in advanced NSCLC patients, little side-effect, and well tolerated. \"'), ('4206', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '12660384', '99', 'hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The FIP1L1-PDGFRA fusion gene was subsequently detected in 9 of 16 patients with the syndrome and in 5 of the 9 patients with responses to imatinib that lasted more than three months. '), ('4207', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '16381018', '99', 'rhabdomyosarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', 'Seven of these patients were positive for the PAX3-FKHR fusion gene and 7 were negative.     ///    \"The muscle-specific microarray platform was able to distinguish PAX3-FKHR positive and negative ARMS through the expression pattern of a limited number of genes (RAC1, CFL1, CCND1, IGFBP2) that might be biologically relevant for the different clinical behavior and aggressiveness of the 2 ARMS subtypes. \"    ///    Gene expression profiling identifies potential relevant genes in alveolar rhabdomyosarcoma pathogenesis and discriminates PAX3-FKHR positive and negative tumors.. '), ('4208', 'SYT_SSX2', '', 'SYT', 'SSX2', '11866984', '99', '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. \"    ///    (2) There was an association between SYT-SSX fusion type and histologic subtype.SYT-SSX2 fusion transcript could only be found in monophasic synovial sarcomas.. '), ('4209', 'MLL_ELL', '', 'MLL', 'ELL', '22149207', '99', 'leukemia;sarcoma\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'MLL-ELL fusion gene in two infants with acute monoblastic leukemia and myeloid sarcoma.. '), ('4210', 'EML4_ALK', '', 'EML4', 'ALK', '20659620', '99', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The fusion gene EML4-ALK (echinoderm microtubule-associated protein-like 4 gene and the anaplastic lymphoma kinase gene) was recently identified as a novel genetic alteration in non-small-cell lung cancer. '), ('4211', 'MYH11_CBF', '', 'MYH11', 'CBF', '15168592', '99', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', '', '', '', '', '', '', '', '', 'All patients with the PML/RAR alpha and MYH11/CBF beta fusion gene continued to be in CR.     ///    \"After the first consolidation therapy (consolidation 1), the expression of Wilms tumor gene (WT1) and/or leukemia-specific fusion genes such as AML1/MTG8, PML/RAR alpha, and MYH11/CBF beta were analyzed. \"    ///    \"The AML1/MTG8 fusion gene was expressed in 8 patients, PML/RAR alpha was expressed in 3 patients, and MYH11/CBF beta was expressed in 1 patient. \"'), ('4212', 'CD74_NRG1', '', 'CD74', 'NRG1', '26837769', '99', 'lung cancer;adenocarcinoma\r\r', '', '', '', '', '', '', 'KB', '', 'Oncogenic Fusion Gene CD74-NRG1 Confers Cancer Stem Cell-like Properties in Lung Cancer through a IGF2 Autocrine/Paracrine Circuit.    ///    \"Using a limiting dilution assay in a xenograft model, we further show that the CD74-NRG1 fusion gene enhanced tumor initiation. \"    ///    Oncogenic Fusion Gene CD74-NRG1 Confers Cancer Stem Cell-like Properties in Lung Cancer through a IGF2 Autocrine/Paracrine Circuit..     ///    \"In this study, we found that the expression of the CD74-NRG1 fusion gene increased the population of lung cancer cells with CSC-like properties. \"    ///    \"However, the function of the CD74-NRG1 fusion gene in adenocarcinoma pathogenesis and the mechanisms by which it may impart protumorigenic characteristics to cancer stem cells (CSC) is still unclear. \"    ///    \"Mechanistically, we found that CD74-NRG1 expression promoted the phosphorylation of ErbB2/3 and activated the PI3K/Akt/NF-?B signaling pathway. \"    ///    \"CD74-NRG1 expression facilitated sphere formation not only of cancer cells, but also of nonmalignant lung epithelial cells. \"    ///    \"Furthermore, the expression of the secreted insulin-like growth factor 2 (IGF2) and phosphorylation of its receptor, IGF1R, were enhanced in an NF-?B-dependent manner in cells expressing CD74-NRG1. \"'), ('4213', 'FN1_ALK', '', 'FN1', 'ALK', '22570254', '99', 'ovarian cancer', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Genetic characterization of these ALK-positive tumors indicated that full-length ALK expression in two serous carcinoma patients is consistent with ALK gene copy number gain, whereas a stromal sarcoma patient carries a novel transmembrane ALK fusion gene: FN1-ALK.     ///    \"Biochemical and functional analysis showed that both full-length ALK and FN1-ALK are oncogenic, and tumors expressing ALK or FN1-ALK are sensitive to ALK kinase inhibitors. \"'), ('4214', 'MLL_AF4', '', 'MLL', 'AF4', '12433702', '99', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'A novel MLL/AF4 fusion gene lacking the AF4 transactivating domain in infant acute lymphoblastic leukemia.. '), ('4215', 'EML4_ALK', '', 'EML4', 'ALK', '19234440', '99', 'lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'A subset of lung cancers harbors a small inversion within chromosome 2p, giving rise to a transforming fusion gene, EML4-ALK (echinoderm microtubule-associated protein-like 4 gene and the anaplastic lymphoma kinase gene), which encodes an activated tyrosine kinase.    ///    \" A subset of lung cancers harbors a small inversion within chromosome 2p, giving rise to a transforming fusion gene, EML4-ALK (echinoderm microtubule-associated protein-like 4 gene and the anaplastic lymphoma kinase gene), which encodes an activated tyrosine kinase. \"    ///    \"We have earlier examined the presence of EML4-ALK by multiplex reverse transcription-polymerase chain reaction in 363 specimens of lung cancer, identifying 11 adenocarcinoma cases featuring the fusion gene. \"    ///    \"EML4-ALK lung cancers are characterized by rare other mutations, a TTF-1 cell lineage, an acinar histology, and young onset.\"    ///    \"EML4-ALK lung cancers are characterized by rare other mutations, a TTF-1 cell lineage, an acinar histology, and young onset.. \"    ///    \"Furthermore, the presence of EML4-ALK appears to be mutually exclusive for EGFR and KRAS mutations (P=0.00018), whereas coexisting with TP53 mutations at a low frequency (1/11=9.1%), and correlating with non- or light smoking (P=0.040), in line with the TTF-1 immunoreactivity. \"'), ('4216', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '15077183', '99', 'follicular thyroid carcinoma', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', ' Follicular thyroid carcinoma (FTC) frequently harbors the PAX8/PPARgamma fusion gene (PPFP).     ///    The PAX8/PPARgamma fusion oncoprotein transforms immortalized human thyrocytes through a mechanism probably involving wild-type PPARgamma inhibition.. '), ('4217', 'EML4_ALK', '', 'EML4', 'ALK', '24419120', '99', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Long-term response to gefitinib and crizotinib in lung adenocarcinoma harboring both epidermal growth factor receptor mutation and EML4-ALK fusion gene.. '), ('4218', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '19539850', '99', 'dermatofibrosarcoma;dermatofibrosarcoma,', '', '', 'Oncogene', '', '', '', 'KB', '', 'Skin metastasis of dermatofibrosarcoma protuberans with distinct morphological features, confirmed by COL1A1-PDGFB fusion gene analysis..     ///    \"Because both tumors possessed the identical chimeric COL1A1-PDGFB fusion gene, the metastatic nature of the occipital tumor was confirmed.. \"'), ('4219', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '16781490', '99', 'aggressive systemic mastocytosis;cutaneous mastocytosis;indolent systemic mastocytosis;mast cell leukemia;mast cell sarcoma', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Imatinib mesylate therapy might result in complete remission of SM cases with wild-type KIT, certain KIT mutations, such as F522C, or the FIP1L1-PDGFRA fusion gene, but not of D816V-KIT-bearing SM. '), ('4220', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '17377585', '99', 'non Hodgkin Lymphoma', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We conclude that all eosinophilia-associated hematological malignancies should be screened for the presence of the FIP1L1-PDGFRA fusion gene as they are excellent candidates for treatment with tyrosine kinase inhibitors even if they present with an aggressive phenotype such as AML..     ///     The FIP1L1-PDGFRA fusion gene has been described in patients with eosinophilia-associated myeloproliferative disorders (Eos-MPD).     ///    Recurrent finding of the FIP1L1-PDGFRA fusion gene in eosinophilia-associated acute myeloid leukemia and lymphoblastic T-cell lymphoma.. '), ('4221', 'KIAA1549_BRAF', '', 'KIAA1549', 'BRAF', '23533272', '99', 'melanoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Activated BRAF protein kinase mutations are characteristic of pediatric astrocytomas with KIAA1549-BRAF fusion genes typifying low-grade astrocytomas and (V600E)BRAF alterations characterizing distinct or higher-grade tumors.    ///    Activated BRAF protein kinase mutations are characteristic of pediatric astrocytomas with KIAA1549-BRAF fusion genes typifying low-grade astrocytomas and (V600E)BRAF alterations characterizing distinct or higher-grade tumors.     ///    \"however, here we characterized the distinct mechanisms of action of KIAA1549-BRAF and its differential responsiveness to PLX4720, a first-generation BRAF inhibitor and research analog of vemurafenib. \"    ///    \"In addition, the KIAA1549-BRAF fusion displays increased binding affinity to kinase suppressor of RAS (KSR), an RAF relative recently demonstrated to facilitate MEK phosphorylation by BRAF. \"    ///    Mutagenesis studies demonstrated that KIAA1549-BRAF fusion-mediated signaling is diminished with disruption of the BRAF kinase dimer interface.     ///    \"Despite its resistance to PLX4720, the KIAA1549-BRAF fusion is responsive to a second-generation selective BRAF inhibitor that, unlike vemurafenib, does not induce activation of wild-type BRAF. \"    ///    \"We found that in cells expressing KIAA1549-BRAF, the fusion kinase functions as a homodimer that is resistant to PLX4720 and accordingly is associated with CRAF-independent paradoxical activation of MAPK signaling. \"'), ('4222', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '19583695', '99', 'dermatofibrosarcoma protuberans;sarcoma\r\r', '', '', 'Oncogene', '', '', '', 'KB', '', 'Feasibility of COL1A1-PDGFB fusion gene detection to evaluate surgical margins in dermatofibrosarcoma protuberans.. '), ('4223', 'EML4_ALK', '', 'EML4', 'ALK', '21102268', '99', 'lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Treatment of lung cancer with an ALK inhibitor after EML4-ALK fusion gene detection using endobronchial ultrasound-guided transbronchial needle aspiration.. '), ('4224', 'KIAA1549_BRAF', '', 'KIAA1549', 'BRAF', '26321697', '99', 'pilocytic astrocytoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The KIAA1549-BRAF fusion gene has been found in approximately 70% of PAs, but is reportedly rare in PMAs.    ///    \"The KIAA1549-BRAF fusion gene has been found in approximately 70% of PAs, but is reportedly rare in PMAs. \"    ///    Three major KIAA1549-BRAF fusion subtypes were analyzed by quantitative reverse transcription polymerase chain reaction(RT-PCR)and sequencing.     ///    \"In summary, no BRAF V600E mutations were found in PMSAs, but KIAA1549-BRAF fusion was identified in IPT, particularly in the PA component. \"'), ('4225', 'RARA_PML', '', 'RARA', 'PML', '17008891', '99', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Do RARA/PML fusion gene deletions confer resistance to ATRA-based therapy in patients with acute promyelocytic leukemia?. '), ('4226', 'EML4_ALK', '', 'EML4', 'ALK', '26019170', '99', 'non small cell lung cancer;lung cancer\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We have now examined PD-L1 expression and its regulation in NSCLC positive for the EML4-ALK fusion gene.    ///    We have now examined PD-L1 expression and its regulation in NSCLC positive for the EML4-ALK fusion gene.     ///    The PD-L1 expression level was higher in NSCLC cell lines positive for EML4-ALK than in those negative for the fusion gene.     ///    \"Finally, the expression level of PD-L1 was positively associated with the presence of EML4-ALK in NSCLC specimens.\"    ///    \"Finally, the expression level of PD-L1 was positively associated with the presence of EML4-ALK in NSCLC specimens. \"    ///    \"Furthermore, expression of PD-L1 was downregulated by inhibitors of the MEK-ERK and PI3K-AKT signaling pathways in NSCLC cells positive for either EML4-ALK or activating mutations of the EGFR. \"    ///    Our findings that both EML4-ALK and mutant EGFR upregulate PD-L1 by activating PI3K-AKT and MEK-ERK signaling pathways in NSCLC reveal a direct link between oncogenic drivers and PD-L1 expression..     ///    Induction of PD-L1 Expression by the EML4-ALK Oncoprotein and Downstream Signaling Pathways in Non-Small Cell Lung Cancer.. '), ('4227', 'TEL_AML1', '', 'TEL', 'AML1', '10557067', '99', '', '', '', '', '', '', '', '', '', 'Two cases of very late relapsing ALL carrying the TEL:AML1 fusion gene.. '), ('4228', 'SYT_SSX4', '', 'SYT', 'SSX4', '11535711', '99', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Re: A novel fusion gene, SYT-SSX4, in synovial sarcoma.. '), ('4229', 'EWS_ATF', '', 'EWS', 'ATF', '11263942', '99', 'clear cell sarcoma;melanoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Pathological examination, immunohistochemical studies of melanin granules, and molecular analysis of the EWS/ATF-1 fusion gene were also done.     ///    The EWS/ATF-1 fusion gene was not detected. '), ('4230', 'PAX3_FOXO1', 't(2;13)(q35;q14) / ', 'PAX3', 'FOXO1', '21440083', '99', 'rhabdomyosarcoma;sarcoma\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'ARMS is primarily characterized by a t(2;13)(q35;q14) chromosomal translocation, which fuses the 5\'-coding sequences of Pax3 with the 3\'-coding sequence of the forkhead transcription factor FOXO1 generating the oncogenic fusion protein Pax3-FOXO1.     ///    \"Taken together, our results allow us to propose a molecular model to describe the changing pattern of phosphorylation for Pax3 and the altered phosphorylation for Pax3-FOXO1 during early myogenic differentiation..\"    ///    Identification of serines 201 and 209 as sites of Pax3 phosphorylation and the altered phosphorylation status of Pax3-FOXO1 during early myogenic differentiation.    ///    \"Taken together, our results allow us to propose a molecular model to describe the changing pattern of phosphorylation for Pax3 and the altered phosphorylation for Pax3-FOXO1 during early myogenic differentiation.. \"    ///    Identification of serines 201 and 209 as sites of Pax3 phosphorylation and the altered phosphorylation status of Pax3-FOXO1 during early myogenic differentiation..     ///    \"Using phospho-specific antibodies we demonstrate a changing pattern of phosphorylation at serines 201, 205, and 209 throughout early myogenic differentiation and that this pattern of phosphorylation is different for Pax3-FOXO1 in primary myoblasts and in several ARMS cell lines. \"    ///    \"We previously demonstrated that Pax3 and Pax3-FOXO1 are phosphorylated by the protein kinase CK2 at serine 205 in proliferating primary myoblasts and that this phosphorylation event is rapidly lost from Pax3, but not Pax3-FOXO1 upon the induction of differentiation. \"'), ('4231', 'NUP98_HOXD13', '', 'NUP98', 'HOXD13', '18566322', '99', 'myelodysplastic syndrome;leukemia\r\r', '', '', 'Oncogene', '', '', '', 'KB', 'Seq', ' The NUP98-HOXD13 (NHD13) fusion gene occurs in patients with myelodysplastic syndrome (MDS) and acute nonlymphocytic leukemia (ANLL).     ///    \"Leukemic transformation in mice expressing a NUP98-HOXD13 transgene is accompanied by spontaneous mutations in Nras, Kras, and Cbl.. \"'), ('4232', 'SYT_SSX4', '', 'SYT', 'SSX4', '10359553', '99', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'A novel fusion gene, SYT-SSX4, in synovial sarcoma.. '), ('4233', 'SYT_SSX2', '', 'SYT', 'SSX2', '17418406', '99', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'They show that expression of the SYT-SSX2 fusion gene yields a highly penetrant and representative model of human synovial sarcoma, but only if expression occurs in a particular biologic context. '), ('4234', 'SYT_SSX2', '', 'SYT', 'SSX2', '10889911', '99', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Subsequent sequence analysis confirmed that the detected messages were derived from the SYT-SSX1 fusion gene in two cases and from SYT-SSX2 in one. '), ('4235', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '16965435', '99', 'hypereosinophilic syndrome;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Skin biopsy revealed proliferation of CD30(+) T cells consistent with lymphomatoid papulosis (LyP), whereas molecular analysis of peripheral blood mononuclear cells demonstrated the presence of the FIP1L1/PDGFRA fusion gene.     ///     Fip1-like 1/platelet-derived growth factor receptor-alpha (FIP1L1/PDGFRA)-positive hypereosinophilic syndrome is a rare disorder with a poor prognosis if untreated and for which treatment with imatinib mesilate is highly effective. '), ('4236', 'KIAA1549_BRAF', '', 'KIAA1549', 'BRAF', '24532263', '99', 'astrocytoma', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Analysis of KIAA1549-BRAF fusion gene expression and IDH1/IDH2 mutations in low grade pediatric astrocytomas..     ///    \"This study identified the expression of KIAA1549-BRAF fusion gene and BRAF V600E mutation, mutations at exon 4 of the IDH1 and IDH2 genes in samples of pilocytic astrocytomas (PA) and grade-II astrocytomas (A-II) pediatric patients. \"    ///    We identified the KIAA1549-BRAF fusion transcript in 45?% of the samples. '), ('4237', 'EML4_ALK', '', 'EML4', 'ALK', '23371030', '99', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'For instance, several molecular alterations have been defined as \"driver mutations,\" such as mutations in EGFR and EML4-ALK fusion gene.    ///    \"For instance, several molecular alterations have been defined as \"\"driver mutations,\"\" such as mutations in EGFR and EML4-ALK fusion gene. \"'), ('4238', 'CCND1_CDK4', '', 'CCND1', 'CDK4', '10597234', '99', '', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Utilizing a tet-regulated gene expression system, we have shown that proliferation of stably transfected primary REFs in vitro and in vivo is dependent on the continued expression of the cyclin D1-cdk4 fusion gene.     ///    Conditional transformation of rat embryo fibroblast cells by a cyclin D1-cdk4 fusion gene.. '), ('4239', 'SSX1_SS18', '', 'SSX1', 'SS18', '18714179', '99', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', 'KB', '', 'For obtaining better insights into the genetic alterations and molecular mechanisms involved in synovial sarcomas and for developing novel therapeutic strategies for this disease, we first examined the efficiency of small interfering RNAs (siRNAs) targeting the SS18-SSX1 fusion gene in knocking down its expression in the human synovial sarcoma cell line HS-SY-II, and then evaluated the effects of downregulation of this gene on apoptosis, apoptosis-related gene expression, growth regulatory proteins, and the growth of tumor cells in vitro.     ///    Downregulation of SS18-SSX1 expression by small interfering RNA inhibits growth and induces apoptosis in human synovial sarcoma cell line HS-SY-II in vitro..     ///    Our results demonstrate that siRNA targeting of SS18-SSX1 may have therapeutic potential in the treatment of synovial sarcomas..     ///    \"We observed a marked decrease (by more than 87.6%) in SS18-SSX1 expression levels in cells transfected with a plasmid expressing hairpin siRNA for this gene, which was accompanied by (i) reduction in protein levels of cyclin D1 and cyclin A, (ii) reduction in antiapoptotic protein Bcl-2 and activation of caspase 3/apoptosis, and (iii) growth inhibition of HS-SY-II cells in vitro. \"'), ('4240', 'EML4_ALK', '', 'EML4', 'ALK', '23425902', '99', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In recent years, more and more attention has been focused on some new molecular targets in NSCLC, such as echinodem microtubule-associated protein-like4/anaplastic lymphoma kinase (EML4-ALK) fusion gene.    ///    [Clinical meaning of EML4-ALK fusion gene in non-small cell lung cancer]..     ///    \"In recent years, more and more attention has been focused on some new molecular targets in NSCLC, such as echinodem microtubule-associated protein-like4/anaplastic lymphoma kinase (EML4-ALK) fusion gene. \"    ///    \"This review will focus on the basic structure, clinicopathologic features, detection method, ALK inhibitor and therapeutic meaning of EML4-ALK in NSCLC.. \"'), ('4241', 'TEL_AML1', '', 'TEL', 'AML1', '14724653', '99', '', '', '', '', '', '', '', '', '', 'Leukaemic cells carrying TEL/AML1 fusion gene are more sensitive to treatment with L-asparaginase compared to other subtypes of ALL.     ///    Significantly higher expression of AsnS was found in untreated leukaemic cells from children with TEL/AML1[+] ALL (n=20) in comparison with the group of age-matched children with ALL bearing no known fusion gene (n=25.     ///    Upregulation of asparagine synthetase fails to avert cell cycle arrest induced by L-asparaginase in TEL/AML1-positive leukaemic cells..     ///    \"Interestingly, none of the TEL/AML1[+] patients with high AsnS level relapsed, whereas 10/15 patients with AsnS below median relapsed (P=0.00028). \"    ///    \"We hypothesise that TEL/AML1[+] cells are unable to progress into the S phase of cell cycle under nutrition stress caused by L-asparaginase, despite the ability of AsnS upregulation. \"    ///    \"Therefore, high AsnS levels in TEL/AML1[+] patients correlate with better prognosis, possibly reflecting the stretched metabolic demand of the lymphoblast.. \"    ///    Cell cycle analysis revealed TEL/AML1[+] cells to accumulate in G1/G0 phase (81-98%) compared to TEL/AML1[-] cells (47-60%).     ///    Quantitative analysis of asparagine synthetase (AsnS) expression showed the ability of TEL/AML1[+] cells to increase AsnS mRNA levels after L-asparaginase treatment to the same extent as TEL/AML1[-] leukaemic and nonleukaemic lymphoid cells.     ///    We demonstrate in vitro the prolonged growth suppression of TEL/AML1[+] cells compared to TEL/AML1[-] leukaemic cells after L-asparaginase treatment simulating treatment protocol. '), ('4242', 'EML4_ALK', '', 'EML4', 'ALK', '22154278', '99', 'non small cell lung cancer', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'For instance, several molecular alterations have been defined as \"driver mutations,\" such as mutations in epidermal growth factor receptor (EGFR), Kirsten-rous avian sarcoma (KRAS), and a chromosome 2p inversion producing an EML4-ALK fusion gene (echinoderm microtubule-associated protein-like 4 fused with the anaplastic lymphoma kinase).    ///    \"For instance, several molecular alterations have been defined as \"\"driver mutations,\"\" such as mutations in epidermal growth factor receptor (EGFR), Kirsten-rous avian sarcoma (KRAS), and a chromosome 2p inversion producing an EML4-ALK fusion gene (echinoderm microtubule-associated protein-like 4 fused with the anaplastic lymphoma kinase). \"'), ('4243', 'PENK_BGAL11', '', 'PENK', 'BGAL11', '9453554', '99', '', '', '', '', '', '', '', '', '', 'Here we use a transgenic mouse model expressing a human proenkephalin-beta-galactosidase fusion gene, in which both up-regulation and down-regulation of gene expression can be measured easily, to study the effects of GABA on basal and stress-induced gene expression within the PVN. '), ('4244', 'BCR_ABL1', '', 'BCR', 'ABL1', '25686603', '99', 'renal cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The BCR-ABL1 fusion gene is a driver oncogene in chronic myeloid leukaemia and 30-50% of cases of adult acute lymphoblastic leukaemia.     ///    \"Axitinib potently inhibited BCR-ABL1(T315I), at both biochemical and cellular levels, by binding to the active form of ABL1(T315I) in a mutation-selective binding mode. \"    ///    Axitinib effectively inhibits BCR-ABL1(T315I) with a distinct binding conformation..     ///    \"The BCR-ABL1 kinase domain gatekeeper mutation Thr315Ile (T315I) confers resistance to all approved ABL1 inhibitors except ponatinib, which has toxicity limitations. \"'), ('4245', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '17527042', '99', 'eosinophilic pneumonia', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Molecular analysis demonstrated that the FIP1L1-PDGFRA fusion gene was negative. '), ('4246', 'MLL_AF17', '', 'MLL', 'AF17', '15854547', '99', 'leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Spearman Rho correlation analysis revealed that the correlation coefficient between the WT1(N) expression levels and BCR/ABL, AML/ETO, PML/RARalpha and MLL/AF17 fusion genes expression were 0.678 (P = 0.00), 0.677 (P = 0.00), 0.806 (P = 0.00) and 0.553 (P = 0.049) respectively. '), ('4247', 'PAX7_FKHR', '', 'PAX7', 'FKHR', '23528172', '99', 'rhabdomyosarcoma;melanoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Due to PAX7-FKHR fusion gene positivity, rhabdomyosarcoma was the most probable classification. '), ('4248', 'RUNX1T1_RUNX1', 't(8;21) / t(8;21) (q22;q22) / t(8;21)  / ', 'RUNX1T1', 'RUNX1', '25082877', '99', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', ' We asked whether minimal residual disease (MRD) determined by RUNX1/RUNX1T1 transcript levels could identify allogeneic hematopoietic stem cell transplantation (allo- HSCT) t(8;21) (q22;q22) acute myeloid leukemia patients who are at high risk for relapse, together with the impact of c-KIT mutations.     ///    \"In adults with t(8;21)AML, posttransplant RUNX1/RUNX1T1-based MRD monitoring, rather than c-KIT mutations, allows further risk stratification.. \"'), ('4249', 'NUT_NSD3', '', 'NUT', 'NSD3', '25685583', '99', '', '', '', '', '', '', '', '', '', 'Cytological Features of a Variant NUT Midline Carcinoma of the Lung Harboring the NSD3-NUT Fusion Gene: A Case Report and Literature Review..     ///    \"We recently reported this patient as the first case of a variant NMC of the lung harboring an NSD3-NUT fusion, based on immunohistochemical and genetic analyses. \"'), ('4250', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '18410960', '99', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Responsiveness was not related to the levels of baseline plasma IL-5 or the presence of FIP1L1-PDGFRA fusion gene. '), ('4251', 'SCGB1A1_CAT', '', 'SCGB1A1', 'CAT', '3315567', '99', '', '', '', '', '', '', '', '', '', '[Production of transgenic rabbits by microinjection of a uteroglobin-CAT fusion gene into fertilized rabbit oocytes].. '), ('4252', 'RUNX1T1_RUNX1', 't(8;21)  / ', 'RUNX1T1', 'RUNX1', '23535063', '99', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', ' We aimed to improve the outcome of t(8;21) acute myeloid leukemia (AML) in the first complete remission (CR1) by applying risk-directed therapy based on minimal residual disease (MRD) determined by RUNX1/RUNX1T1 transcript levels. '), ('4253', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '21764752', '99', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'We found that AML1-ETO, the fusion protein generated by the t(8;21) translocation, is acetylated by the transcriptional coactivator p300 in leukemia cells isolated from t(8;21) AML patients, and that this acetylation is essential for its self-renewal-promoting effects in human cord blood CD34(+) cells and its leukemogenicity in mouse models.     ///    The leukemogenicity of AML1-ETO is dependent on site-specific lysine acetylation..     ///    Inhibition of p300 abrogates the acetylation of AML1-ETO and impairs its ability to promote leukemic transformation. '), ('4254', 'RARA_PML', '', 'RARA', 'PML', '20528759', '99', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'An abnormal fusion gene, PML/RARA is detected in approximately 98% of patients with APL.     ///    PML/RARA confers long-term self-renewal properties to promyelocytes. '), ('4255', 'RET_KIF5B', '', 'RET', 'KIF5B', '26291023', '99', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Rapid Response to Sunitinib in a Patient with Lung Adenocarcinoma Harboring KIF5B-RET Fusion Gene.. '), ('4256', 'TAL1_SIL', '', 'TAL1', 'SIL', '19562638', '99', 'T ALL\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', 'SIL-TAL1 fusion gene negative impact in T-cell acute lymphoblastic leukemia outcome..     ///     SIL-TAL1 fusion gene and the ectopic expression of HOX11L2 are common molecular abnormalities in T-cell acute lymphoblastic leukemia (T-ALL).     ///    \"Considering patients younger than nine years-old, those with SIL-TAL1(+) presented a poorer outcome (p = 0.02). \"    ///    \"SIL-TAL1(+) and HOX11L2(+) accounted for 26.7% and 10.3% of the cases, respectively. \"    ///    The results of this study suggest that in the Brazilian population only the presence of SIL-TAL1 can predict outcome in a restricted group of patients.. '), ('4257', 'EML4_ALK', '', 'EML4', 'ALK', '21504625', '99', 'non small cell lung cancer;breast cancer;lung cancer;ovarian cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'EML4-ALK fusion gene is identified in approximately 3-13% of non-small cell lung cancer (NSCLC).     ///    \"Early-phase clinical studies with Crizotinib, an ALK inhibitor, in NSCLC harboring EML4-ALK have demonstrated promising activity with high response rate and prolonged progression-free survival. \"'), ('4258', 'TEL_JAK2', '', 'TEL', 'JAK2', '22829185', '99', 'polycythemia vera\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'NS-018 showed potent antiproliferative activity against cell lines expressing a constitutively activated JAK2 (the JAK2V617F or MPLW515L mutations or the TEL-JAK2 fusion gene. '), ('4259', 'SYT_SSX', '', 'SYT', 'SSX', '12173050', '99', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Apart from the clinical impact, this fact also suggests (1) that the SYT-SSX fusion gene may influence molecular mechanisms involved in tumour growth and progression.     ///    \"Our data suggest that SYT-SSX may influence the cell cycle machinery, and that the more aggressive phenotype of the SYT-SSX1 variant is due to an accelerated tumour cell proliferation.. \"'), ('4260', 'HLF_E2A', 't(17;19) / t(17;19)  / ', 'HLF', 'E2A', '20519628', '99', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', '', '', 'E2A-HLF fusion derived from t(17;19) in B-precursor acute lymphoblastic leukemia (ALL) has the transactivation domain of E2A and the basic region/leucine zipper domain of HLF, which is a PAR transcription factor, raising the possibility that E2A-HLF aberrantly induces LMO2 expression.     ///    These observations indicated that E2A-HLF promotes cell survival of t(17;19)-ALL cells by aberrantly up-regulating LMO2 expression.     ///    Transfection of E2A-HLF into a non-t(17;19) B-precursor ALL cell line induced LMO2 gene expression that was dependent on the DNA-binding and transactivation activities of E2A-HLF.     ///    Aberrant induction of LMO2 by the E2A-HLF chimeric transcription factor and its implication in leukemogenesis of B-precursor ALL with t(17;19).. '), ('4261', 'BCR_ABL1', '', 'BCR', 'ABL1', '24262285', '99', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Univariate analysis revealed that significant factors associated with not attaining a major molecular response (MMR) were the presence of the minor BCR-ABL1 fusion gene, a low daily dose of TKI, and the emergence of BCR-ABL1 kinase domain mutations conferring resistance to imatinib.     ///    Molecular analysis of the BCR-ABL1 kinase domain in chronic-phase chronic myelogenous leukemia treated with tyrosine kinase inhibitors in practice: study by the Nagasaki CML Study Group..     ///    \"Taken together, our results suggest that the search for BCR-ABL1 mutations should be initiated if patients have not achieved MMR following 12 months of TKI treatment. \"    ///    Factors associated with the loss of sustained MMR were a low daily dose of TKI and the emergence of alternatively spliced BCR-ABL1 mRNA with a 35-nucleotide insertion.     ///     An appropriate trigger for BCR-ABL1 mutation analysis has not yet been established in unselected cohorts of chronic-phase chronic myelogenous leukemia patients. '), ('4262', 'DUX4_CIC', '', 'DUX4', 'CIC', '27067846', '99', 'chondroblastoma;glial cell tumor;langerhans cell histiocytosis', '', '', '', '', '', '', '', '', 'In this review, we describe the fusion genes recently reported in bone and soft-tissue tumors such as solitary fibrous tumor, aneurysmal bone cyst, nodular fasciitis, CIC-DUX4 fusion gene-positive small round cell tumors, or BCOR-CCNB3-positive sarcoma as well as other genetic aberrations in dedifferentiated liposarcoma, malignant rhabdoid tumor, cartilaginous tumor, Langerhans cell histiocytosis chondroblastoma, or giant cell tumor of the bone. '), ('4263', 'NUP214_ABL1', '', 'NUP214', 'ABL1', '23175662', '99', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Episomal amplification of NUP214-ABL1 fusion gene in B-cell acute lymphoblastic leukemia.. '), ('4264', 'EWS_ERG', '', 'EWS', 'ERG', '15643511', '99', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Although fusion genes EWS-FLI1 and EWS-ERG were undetectable, PES was still considered to be the most likely diagnosis. '), ('4265', 'SNRNP25_LRP1', '', 'SNRNP25', 'LRP1', '26738504', '99', 'osteosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Furthermore, a novel fusion gene, LRP1-SNRNP25, promotes osteosarcoma cell invasion and migration. '), ('4266', 'TAL1_SIL', '', 'TAL1', 'SIL', '24103876', '99', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'The expression of miR-203 was significantly related with the gender, immunophenotype, chromosome, fusion gene, BCR-ABL, SIL-TAL1 and prednisone experiment in pediatric ALL and the gender, chromosome, fusion gene, SIL-TAL1 in pediatric acute leukemia (P<0.05). '), ('4267', 'ROS_FIG', '', 'ROS', 'FIG', '24154728', '99', 'cholangiocarcinoma', '', '', '', '', '', '', '', '', 'FIG-ROS) fusion gene dramatically accelerates ICC development and that its inactivation in established tumors has a potent antitumor effect.     ///    \"Specifically, we showed that the fused-in-glioblastoma-c-ros-oncogene1 (FIG-ROS1(S). \"    ///    Mouse model of intrahepatic cholangiocarcinoma validates FIG-ROS as a potent fusion oncogene and therapeutic target.. '), ('4268', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '17916194', '99', 'erythema', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Transient macular erythema with eosinophilia in a patient carrying the FIP1L1-PDGFRA fusion gene.. ');
INSERT INTO `ChimerPub_dump` VALUES ('4269', 'TERT_CLPTM1L', '5p15.33 / ', 'TERT', 'CLPTM1L', '26053551', '99', '', '', '', '', '', '', 'Transcription_Factor', '', '', ' The TERT-CLPTM1L region of chromosome 5p15.33 is a multi-cancer susceptibility locus that encodes the reverse transcriptase subunit, hTERT, of the telomerase enzyme. '), ('4270', 'EML4_ALK', '', 'EML4', 'ALK', '22868512', '99', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Furthermore, the article summarizes the implications and future prospects of using molecular testing in the field of NSCLC with focus on EGFR mutations, KRAS mutation, EML4-ALK fusion gene detection, and EGFR expression..     ///    This article discusses in detail the significance of first-line and second-line epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKIs) and inhibitors of the vascular endothelial growth factor receptor (VEGFR) and EML4-ALK. '), ('4271', 'BCR_ABL1', '', 'BCR', 'ABL1', '23640097', '99', 'chronic myeloid leukemia;myeloid leukemia;leukemia;colorectal cancer;bladder cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'This result suggests that BCR/ABL1 fusion gene and KRAS mutations were mutually exclusive.     ///    The KRAS mutations are absent in BCR/ABL1 positive CML. '), ('4272', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23554889', '99', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', ' The TMPRSS2/ERG (T/E) fusion gene is present in the majority of all prostate cancers (PCa). '), ('4273', 'BCR_ABL1', '', 'BCR', 'ABL1', '24555839', '99', 'myelodysplastic syndrome;leukemia;hematologic malignancy\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'These findings along with absence of a BCR-ABL1 fusion gene and a hemoglobin F level of 3.4% were consistent with the diagnosis of JMML, which was confirmed by subsequent positive granulocyte macrophage-colony stimulating factor hypersensitivity and NRAS mutation studies. '), ('4274', 'proacrosin_CAT', '', 'proacrosin', 'CAT', '1571157', '99', '', '', '', '', '', '', '', '', '', 'Germ cell-specific expression of a proacrosin-CAT fusion gene in transgenic mouse testis.. '), ('4275', 'TLS_CHOP', '', 'TLS', 'CHOP', '10872666', '99', 'dedifferentiated liposarcoma', '', '', '', '', '', '', '', '', 'The mixed type with poorly differentiated areas including scattered lipoblasts could be mistaken for myxoid liposarcoma but lacked the C/EBP-homologous protein-translocated in liposarcomat (CHOP-TLS) fusion genes specific for myxoid liposarcoma. '), ('4276', 'EML4_ALK', '', 'EML4', 'ALK', '21515061', '99', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Since the identification of the echinoderm microtubule-associated protein-like 4 (EML4)-ALK fusion gene in some NSCLC patients was reported in 2007, various research groups have been seeking ALK inhibitors. '), ('4277', 'EML4_ALK', '', 'EML4', 'ALK', '26719536', '99', 'non small cell lung cancer', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'One cell line lost the EML4-ALK fusion gene, but exhibited increased activation of insulin-like growth factor-1 receptor (IGF1R) and human epidermal growth factor receptor 3 (HER3), and overexpressed the HER3 ligand neuregulin 1. '), ('4278', 'MALT1_API2', '', 'MALT1', 'API2', '19094584', '99', 'MALT lymphoma;B cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Fluorescence in-situ hybridization for API2-MALT1 fusion gene, bcl-10, MALT1 and IgH genes was performed on paraffin sections.     ///    \"Among the 196 cases of MALT lymphoma, 25 cases (12.8%) possessed API2-MALT1 fusion gene. \"    ///    \"18)/API2-MALT1, t (1. \"'), ('4279', 'BCR_ABL1', '', 'BCR', 'ABL1', '23037633', '99', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Disappearance of both the BCR/ABL1 fusion gene and the JAK2V617F mutation with dasatinib therapy in a patient with imatinib-resistant chronic myelogenous leukemia.. '), ('4280', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '26797429', '99', 'hypereosinophilic syndrome;systemic mastocytosis\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The FIP1L1-PDGFRA (FP) fusion gene is identified in a substantial proportion of patients with eosinophilia-associated myeloproliferative neoplasms (MPN-eo) who subsequently achieve rapid and durable remissions on imatinib. '), ('4281', 'SYT_SSX', '', 'SYT', 'SSX', '21066860', '99', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'on immunohistochemical testing the tumor cells were positive for vimentin, keratin, EMA, CD99, actin, alpha-SMA, CD56, NF, and S100, and amplication of the SYT-SSX fusion gene was also seen. '), ('4282', 'MLL_FNBP1', '', 'MLL', 'FNBP1', '24884312', '99', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', 'KB', '', 'Response monitoring of infant acute myeloid leukemia treatment by quantification of the tumor specific MLL-FNBP1 fusion gene.. '), ('4283', 'SSX_SS18', '', 'SSX', 'SS18', '24022186', '99', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' The aim of this study is to evaluate distribution and clinical impact of the SS18-SSX fusion gene in patients with synovial sarcoma in China.     ///    The clinical implication of SS18-SSX fusion gene in synovial sarcoma..     ///    SS18-SSX fusion type is a significant prognostic factor for patients with synovial sarcoma.. '), ('4284', 'SSX_SS18', '', 'SSX', 'SS18', '18267106', '99', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Differential roles of SS18-SSX fusion gene and insulin-like growth factor-1 receptor in synovial sarcoma cell growth..     ///     Recently we demonstrated that the synovial sarcoma specific fusion gene SS18-SSX is crucial for cyclin D1 expression and is linked to cell proliferation.     ///    \"In conclusion, SS18-SSX and IGF-1R seem to play important but different roles in maintaining malignant growth of synovial sarcoma cells. \"    ///    \"Whereas SS18-SSX maintains cyclin D1 and cell proliferation, IGF-1R protects from apoptosis.. \"    ///    In this report we explore the role of SS18-SSX and IGF-1R for their potential functions in cellular proliferation and survival in cultured synovial sarcoma cells.     ///    We found that targeting of SS18-SSX mRNA by antisense oligonucleotide treatment drastically and rapidly decreased cell proliferation but caused only a slight increase of apoptosis. '), ('4285', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '14754613', '99', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Patterns of AML1-ETO transcript expression in patients with acute myeloid leukemia and t(8;21) in complete hematologic remission.. '), ('4286', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '19192229', '99', 'hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Analysis of RNA from this patient demonstrated expression of the Fip1-like 1/platelet-derived growth factor receptor-alpha (FIP1L1-PDGFRA) fusion gene. '), ('4287', 'EWSR1_ATF1', '', 'EWSR1', 'ATF1', '26363999', '99', 'fibrous histiocytoma;histiocytoma\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'A fusion gene (EWSR1-ATF1) was found in the 3 cases in which molecular investigation was performed. '), ('4288', 'NFIB_MYB', '', 'NFIB', 'MYB', '26888403', '99', 'adenoid cystic carcinoma\r\r', '', '', '', '', '', '', 'KB', '', '[Research progress on characteristic MYB-NFIB fusion gene in adenoid cystic carcinoma].. '), ('4289', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '16768284', '99', 'oral ulcer', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The diagnosis was confirmed by detection of the fusion gene \'FIP1-like-1-platelet-derived growth factor receptor alpha\' (FIP1L1-PDGFRA) in the peripheral blood and bone marrow. '), ('4290', 'BGAL11_VIP', '', 'BGAL11', 'VIP', '9013773', '99', '', '', '', '', '', '', '', '', '', 'Region-specific central nervous system expression and axotomy-induced regulation in sympathetic neurons of a VIP-beta-galactosidase fusion gene in transgenic mice..     ///    We investigated whether the VIP-beta-galactosidase transgene was regulated in sympathetic neurons in experimental paradigms in which VIP regulation is dependent on the release of leukemia inhibitory factor (LIF). '), ('4291', 'MOZ_CBP', 't(8;16)  / ', 'MOZ', 'CBP', '11742995', '99', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'On the other hand, the MOZ-CBP fusion protein, which is created by the t(8;16) translocation associated with acute monocytic leukemia, inhibits AML1-mediated transcription and differentiation of M1 cells.     ///    These results suggest that MOZ-CBP might induce leukemia by antagonizing the function of the AML1 complex..     ///    \"MOZ, as well as CBP and MOZ-CBP, can acetylate AML1 in vitro. \"    ///    Activation of AML1-mediated transcription by MOZ and inhibition by the MOZ-CBP fusion protein.. '), ('4292', 'CHRNA5_CHRNA3', '5p15.33 / 6p21.33 / ', 'CHRNA5', 'CHRNA3', '19465454', '99', 'non small cell lung cancer;lung cancer\r\r', '', '', '', '', '', '', '', '', ' Genome-wide association studies have provided evidence that common variation at 5p15.33 [telomerase reverse transcriptase (TERT)-cleft lip and palate transmembrane 1-like (CLPTM1L)], 6p21.33 and 15q25.1 (CHRNA5-CHRNA3) influences lung cancer risk and cancer types with strong environmental risk factors. '), ('4293', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '9130615', '99', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Recently, we have developed a quantitative assay using competitive reverse transcriptase polymerase chain reaction that estimates the number of AML1/ETO transcripts in t(8;21) acute myelogenous leukemia (AML), in order to determine the degree of leukemic cell contamination in PBSC harvests, and to monitor minimal residual disease (MRD) quantitatively in patients with t(8;21) AML.     ///    Significance of quantitative analysis of AML1/ETO transcripts in peripheral blood stem cells from t(8;21) acute myelogenous leukemia..     ///    \"Thus, the quantitative analysis of AML1/ETO transcripts may be clinically useful in patients with t(8;21) AML.. \"    ///    There appears to be no relationship between the number of AML1/ETO transcripts found in the infused PBSC harvests and the incidence of leukemic relapse following autologous PBSCT in our study.     ///    \"However, a substantial decrease of AML1/ETO transcripts was seen following autologous PBSCT. \"'), ('4294', 'EML4_ALK', '', 'EML4', 'ALK', '21129606', '99', 'adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Up till now EGFR gene mutations, KRAS gene mutations and EML4-ALK fusion genes are the most widely recognized alterations involved in both the biology and the clinical management of lung adenocarcinoma. '), ('4295', 'PAX3_MAML3', 't(2;4) / ', 'PAX3', 'MAML3', '24859338', '99', 'sarcoma\r\r', '', '', '', '', '', '', '', 'Seq', 'Here we report a recurrent chromosomal translocation in SNS, t(2;4)(q35;q31.1), resulting in a PAX3-MAML3 fusion protein that is a potent transcriptional activator of PAX3 response elements.     ///    Recurrent PAX3-MAML3 fusion in biphenotypic sinonasal sarcoma.. '), ('4296', 'FUS_CREB3L2', '', 'FUS', 'CREB3L2', '23290535', '99', 'cardiac tumor', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Genomic polymerase chain reaction of genomic DNA revealed the typical FUS/Creb3L2 fusion gene products typical of low-grade fibromyxoid sarcoma. '), ('4297', 'TEL_PDGFRB', '', 'TEL', 'PDGFRB', '22541084', '99', '', '', '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. '), ('4298', 'RUNX1_ETO', 't(8;21) / ', 'RUNX1', 'ETO', '25867177', '99', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' RUNX1/ETO (RE), the t(8;21)-derived leukemic transcription factor associated with acute myeloid leukemia (AML) development, deregulates genes involved in differentiation, self-renewal and proliferation.     ///    RUNX1/ETO blocks selectin-mediated adhesion via epigenetic silencing of PSGL-1.. '), ('4299', 'EML4_ALK', '', 'EML4', 'ALK', '22336240', '99', 'lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', '[EML4-ALK fusion gene in lung cancer and its biological function].. '), ('4300', 'SYT_SSX2', '', 'SYT', 'SSX2', '20830232', '99', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Primary pulmonary biphasic synovial sarcoma confirmed by molecular detection of a SYT-SSX2 fusion gene: report of 1 case..     ///    \"Reverse transcriptase polymerase chain reaction, performed using RNA extracted from frozen tumor samples for the detection of SYT-SSX fusion gene, amplified a single 331-bp fragment that was characteristic of the SYT-SSX2 fusion transcripts. \"    ///    \"We report a case of primary pulmonary biphasic synovial sarcoma, which was confirmed by SYT-SSX2 fusion transcripts, and present a brief review of the literature on Korean cases.. \"    ///    \" We experienced a case of primary pulmonary biphasic synovial sarcoma, which was confirmed by immunohistochemistry and molecular testing of SYT-SSX2 fusion transcripts. \"'), ('4301', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '25749044', '99', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', ' Majority of prostate cancer (PCa) patients carry TMPRSS2/ERG (T/E) fusion genes and there has been tremendous interest in understanding how the T/E fusion may promote progression of PCa. '), ('4302', 'PDGFR_FIP1L1', '', 'PDGFR', 'FIP1L1', '19951530', '99', '', '', 'Kinase', '', '', '', '', '', '', 'The median time of FIP1L1-PDGFR alpha fusion gene becoming negative was 4 (1.5 - 8) months.     ///    \"Eight MPN patients with eosinophilia and positive FIP1L1-PDGFR alpha gene and one CEL, NOS were treated with 100 mg or 400 mg/d imatinib orally. \"    ///    Imatinib in treatment of MPN with eosinophilia and positive FIP1L1-PDGFR alpha gene patients can induce high hematologic and molecular remission. '), ('4303', 'NUP98_HOXD13', '', 'NUP98', 'HOXD13', '25220590', '99', 'myelodysplastic syndrome\r\r', '', '', 'Oncogene', '', '', '', 'KB', 'Seq', ' The Nup98-HoxD13 (NHD13) fusion gene was identified in a patient with therapy-related myelodysplastic syndrome (MDS).     ///    Progressive genomic instability in the Nup98-HoxD13 model of MDS correlates with loss of the PIG-A gene product..     ///    \"These findings clearly demonstrate a state of progressive genomic instability that increases the likelihood of a \"\"second hit\"\" or complimentary mutation later in the disease to trigger development of acute leukemia and underscores the mechanistic nature of how the NUP98-HoxD13 transgene induces progression of MDS to acute leukemia. \"'), ('4304', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '26267413', '99', 'hypereosinophilic syndrome', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'While for some subgroups of the HESN (among others FIP1L1-PDGFRA fusion gene) the administration of a tyrosine kinase inhibitor is a new and effective therapy option, glucocorticoids still represent the medication of first choice for many not PDGFRA associated variants. '), ('4305', 'BCR_ABL1', '', 'BCR', 'ABL1', '25256906', '99', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Erythrophagocytosis by blasts in acute myeloid leukaemia harbouring the BCR-ABL1 fusion gene.. '), ('4306', 'ETO_AML1', '', 'ETO', 'AML1', '16403258', '99', 'acute myeloid leukemia;acute lymphoblastic leukemia;acute promyelocytic leukemia\r\r', '', '', '', '', '', '', '', '', 'Cytogenetic and/or molecular biological data in all 45 cases of acute promyelocytic leukemia (APL) and 13 cases of acute leukemia suspected as AML with the fusion genes such as AML1/ETO and CBFbeta/MYH11 were investigated. '), ('4307', 'BCR_ABL1', '', 'BCR', 'ABL1', '26458312', '99', 'myeloproliferative disorder;chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Chronic myeloid leukemia (CML) is a?myeloproliferative disorder of hematopoietic stem cells carrying Philadelphia (Ph) chromosome and the oncogenic BCR-ABL1 fusion gene. '), ('4308', 'EML4_ALK', '', 'EML4', 'ALK', '27070423', '99', 'lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Patients should be screened for the presence of the EGFR mutation or echinoderm microtubule-associated protein-like 4 (EML4)-ALK fusion gene prior to chemotherapy to predict their clinical response.     ///    \"HCC827 (Exon19: E746-A750 del) and H3122 (EML4-ALK) cells were inhibited by lower concentrations of erlotinib and crizotinib, respectively than A549, H460, and H1975 (L858R+T790M) cells were. \"'), ('4309', 'FGFR1_CEP110', '', 'FGFR1', 'CEP110', '23327291', '99', '', '', 'Kinase', '', '', '', '', '', '', 'Quantitative polymerase chain reaction detection of CEP110-FGFR1 fusion gene in a patient with 8p11 myeloproliferative syndrome.. '), ('4310', 'ZC3H7_BCOR', 't(7;17)(p15;q21) / p11;q13 / t(1;6)  / ', 'ZC3H7', 'BCOR', '23580382', '99', 'endometrial stromal sarcoma;sarcoma\r\r', 'PCR', '', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Reverse transciptase-PCR with the ZC3H7B forward and BCOR reverse primer combinations confirmed the presence of a ZC3H7-BCOR chimeric transcript in both ESS carrying a der(22)t(X;22) but not in a control ESS with t(1;6) and the MEAF6-PHF1 fusion.     ///    Whole transcriptome sequencing one of the tumors identified a ZC3H7-BCOR chimeric transcript. '), ('4311', 'ETO_AML1', '', 'ETO', 'AML1', '23114117', '99', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The results showed that expression level of c-MPL in AML patients was significantly higher than that of normal controls (P < 0.05), and the expression level of c-MPL did not correlate with age, sex, white blood cell count, AML1-ETO fusion gene and remission after chemotherapy, but the expression of c-MPL in M2 and M5 patients was higher than that of normal control (P < 0.05). '), ('4312', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '23156891', '99', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Bone marrow biopsy dislocated a FIP1L1-PDGFRA fusion gene chronic eosinophilic leukemia. '), ('4313', 'PENK_BGAL11', '', 'PENK', 'BGAL11', '8152426', '99', '', '', '', '', '', '', '', '', '', 'Stress-induced regulation of a human proenkephalin-beta-galactosidase fusion gene in the hypothalamus of transgenic mice.. '), ('4314', 'TCF3_PBX1', '', 'TCF3', 'PBX1', '25551271', '99', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Clinical features and prognostic significance of TCF3-PBX1 fusion gene in Chinese children with acute lymphoblastic leukemia by using a modified ALL-BFM-95 protocol..     ///    \" For children with precursor B (pre-B) acute lymphoblastic leukemia (ALL) with TCF3-PBX1 fusion gene, their prognosis has been a controversial topic. \"    ///    \"Clinical characteristics of 20 patients with TCF3-PBX1 fusion gene were analyzed retrospectively, which were classified to the intermediate-risk (IR) group according to Chinese Children Leukemia Group-2008 (CCLG-2008) risk-stratification criteria and protocol based on the backbone of BFM 95 trails. \"    ///    \"When intensive chemotherapy was used, the TCF3-PBX1 was associated with a favorable outcome in childhood pre-B ALL. \"    ///    There were not cases with CNS relapse in the TCF3-PBX1 group.     ///    \"The 5-year probability of event-free survival (EFS) rates were 84.4 ?? 15.6% and 73.5 ?? 15.6% in the TCF3-PBX1 group and the comparison group (P = .35), respectively. \"    ///    Eighty five cases without TCF3-PBX1 in the same IR group were regarded as the comparison group. '), ('4315', 'RET_PTC', '', 'RET', 'PTC', '10369300', '99', 'thyroid carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC fusion gene products in patients suffering from thyroid carcinomas.. '), ('4316', 'EML4_ALK', '', 'EML4', 'ALK', '25941796', '99', 'lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In addition, we discuss potential future treatment strategies in ALK-TKI-na?ve and -resistant patients with lung cancer harboring the EML4-ALK fusion gene. '), ('4317', 'PDGFR_FIP1L1', '', 'PDGFR', 'FIP1L1', '16682077', '99', 'myeloproliferative disorder;hypereosinophilic syndrome\r\r', '', 'Kinase', '', '', '', '', '', '', 'We conclude that AMN107 and imatinib are active and equipotent against cells expressing the FIP1L1-PDGFR-alpha fusion gene..     ///    \"Cumulative evidence indicates that the Bcr-Abl tyrosine kinase inhibitor imatinib mesylate (Gleevec) is active for the treatment of patients with HES, particularly those expressing the FIP1L1-PDGFR-alpha oncoprotein. \"    ///    \"In a subset of patients, this is caused by the FIP1L1-PDGFR-alpha fusion tyrosine kinase. \"    ///    We tested the in vitro efficacy of imatinib and AMN107 in the EOL-1 cell line and in cells from a patient with HES harboring the FIP1L1-PDGFR-alpha fusion kinase. '), ('4318', 'BCR_ABL1', '', 'BCR', 'ABL1', '21298759', '99', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Chronic myelogenous leukemia (CML) is caused by the BCR-ABL1 fusion gene that encodes for a constitutively-active tyrosine kinase.     ///    \"Adults and children with CML are typically treated with imatinib mesylate, a BCR-ABL1 tyrosine kinase inhibitor (TKI), or a second-generation TKI. \"'), ('4319', 'RARG_NUP98', '', 'RARG', 'NUP98', '24728721', '99', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', '', '', 'In vitro all-trans retinoic acid sensitivity of acute myeloid leukemia blasts with NUP98/RARG fusion gene.. '), ('4320', 'FGFR1_CEP110', '', 'FGFR1', 'CEP110', '25803811', '99', 'myeloproliferative disorder\r\r', '', 'Kinase', '', '', '', '', '', '', 'Screening of drugs to treat 8p11 myeloproliferative syndrome using patient-derived induced pluripotent stem cells with fusion gene CEP110-FGFR1.. '), ('4321', 'CSF2_CRP', '', 'CSF2', 'CRP', '15138187', '99', '', '', '', '', '', '', '', '', '', 'Transgenic mice carrying a CRP/GM-CSF fusion gene show a >150-fold increases in circulating levels of GM-CSF within 6 h of intraperitoneal inoculation with 25 microg of lipopolysaccharide. '), ('4322', 'MYH11_CBFB', '', 'MYH11', 'CBFB', '20007544', '99', 'leukemia\r\r', '', '', '', '', '', '', '', '', ' It is known that CBFB-MYH11, the fusion gene generated by inversion of chromosome 16 in human acute myeloid leukemia, is causative for oncogenic transformation.     ///    \"Previously published reports showed that CBFB-MYH11 dominantly inhibits RUNX1 and CBFB, and such inhibition has been suggested as the mechanism for leukemogenesis. \"    ///    \"However, the mechanism by which CBFB-MYH11 initiates leukemogenesis is not clear. \"    ///    The expression of all 3 genes was detected in most human and murine CBFB-MYH11(+) leukemia samples. '), ('4323', 'SYT_SSX', '', 'SYT', 'SSX', '25888919', '99', 'renal cancer', '', '', '', '', '', '', '', '', 'Using genetic analysis, a final diagnosis of spindle cell pattern clear cell sarcoma of the kidney was made based on the absence of the SYT-SSX fusion gene. '), ('4324', 'EML4_ALK', '', 'EML4', 'ALK', '26644092', '99', 'lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'the most famous and useful of them the fusion gene ALK-EML4 but other oncogenic pathways have been implicated and under investigations including HER2, BRAF, MET, RET... '), ('4325', 'TERT_CLPTM1L', '5p15.33 / ', 'TERT', 'CLPTM1L', '26664699', '99', '', '', '', '', '', '', 'Transcription_Factor', '', '', ' TERT encodes the telomerase reverse transcriptase, which is responsible for maintaining telomere ends by addition of (TTAGGG) n nucleotide repeats at the telomere.? Recent genome-wide association studies have found common genetic variants at the TERT-CLPTM1L locus (5p15.33) associated with an increased risk of several cancers.? Data were acquired for 1627 variants in 1092 unrelated individuals from 14 populations within the 1000 Genomes Project.? We assessed the population genetics of the 5p15.33 region, including recombination hotspots, diversity, heterozygosity, differentiation among populations, and potential functional impacts. '), ('4326', 'BCR_ABL1', '', 'BCR', 'ABL1', '26854094', '99', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'This chromosome forms the BCR/ABL1 fusion gene.     ///    \"We observed a rare case of adult Ph-positive (Ph(+)) ALL, in which the BCR/ABL1 fusion transcript was not detected using the ABL1 exon a2 region primer. \"    ///    Adult acute lymphoblastic leukemia with a rare b3a3 type BCR/ABL1 fusion transcript..     ///    \"If the BCR/ABL1 fusion transcript is undetected with the ABL1 exon a2 region primer in Ph(+) ALL cases, an RT-PCR analysis that can detect the b3a3 type BCR/ABL1 fusion transcript should be considered to improve diagnosis. \"'), ('4327', 'BCR_ABL1', '', 'BCR', 'ABL1', '27175247', '99', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Although chronic myeloid leukemia (CML) is now defined on the basis of the presence of the BCR-ABL1 fusion gene, which may or may not be the initial genetic event that triggers the inappropriate expansion of the myeloid cell mass, CML, similar to other leukemias, is in fact clinically heterogeneous. '), ('4328', 'ETO_AML1', 't(8;21)  / t(15;17) / t(15;17)  / ', 'ETO', 'AML1', '14617001', '99', '', '', '', '', '', '', '', '', '', 'Two of 136 colonies from six t(8;21) AML patients expressed the AML1-ETO transcript, and all six patients achieved remission after induction. '), ('4329', 'TEL_AML1', '', 'TEL', 'AML1', '24762993', '99', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' This study was aimed to compare the curative effect of BCH - 2003 protocol and CCLG - 2008 protocol for children with TEL-AML1 fusion gene positive childhood acute lymphoblastic leukemia (ALL) and to investigate the more suitable protocol for this subtype of childhood leukemia.     ///    \"It is concluded that for children with TEL-AML1 fusion gene positive ALL, the induction of remission of BCH - 2003 protocol can decrease leukemic load more quickly than that of CCLG - 2008 protocol. \"    ///    [Comparison of the efficacy of two chemotherapy protocols for children with TEL-AML1[STBZ] fusion gene positive acute lymphoblastic leukemia]..     ///    \"The results showed that out of 204 children with TEL-AML1 fusion gene positive ALL, 134 and 70 patients were treated by BCH-2003 protocol and CCLG-2008 protocol respectively. \"    ///    The clinical data for children with TEL-AML1 fusion gene positive ALL admitted from January 2003 to October 2010 in Hematology Center of Beijing Children\'s Hospital were collected. '), ('4330', 'EML4_ALK', '', 'EML4', 'ALK', '24755712', '99', 'lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The EML4-ALK fusion gene is more frequently found in younger, never smoking patients with lung cancer.     ///    \"We, therefore, hypothesized that SHS, which can induce DNA damage, is associated with the EML4-ALK fusion gene. \"    ///    We compared the frequency of the EML4-ALK fusion gene among 197 never smoker patients with lung cancer with and without a history of exposure to SHS during childhood at Mayo Clinic.     ///    The EML4-ALK fusion gene is not enriched in tumors from individuals exposed to SHS during childhood.     ///    Evidence that the lung Adenocarcinoma EML4-ALK fusion gene is not caused by exposure to secondhand tobacco smoke during childhood..     ///    \"The EML4-ALK fusion gene was detected in 33% of cases from never smokers with a history of SHS exposure during childhood, whereas 47% of never smoking lung cancer cases without a history of childhood SHS exposure tested positive for the fusion gene. \"    ///    These data suggest that childhood exposure to SHS is not a significant etiologic cause of the EML4-ALK fusion gene in lung cancer.. '), ('4331', 'ETO_AML1', '', 'ETO', 'AML1', '16792922', '99', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', '(8) positive for AML1/ETO fusion gene. '), ('4332', 'RBM15_MKL1', '', 'RBM15', 'MKL1', '25838902', '99', 'acute myeloid leukemia', '', '', '', '', '', '', 'KB', 'Seq', 'Autopsy revealed that the tumor cells in the liver indicated acute megakaryocytic leukemia with the RBM15-MKL1 fusion gene. '), ('4333', 'YAP1_TFE3', '', 'YAP1', 'TFE3', '26050962', '99', 'sarcoma', '', '', '', '', '', 'Transcription_Factor', '', '', 'Instead, WWTR1-CAMTA1 and YAP1-TFE3 fusion genes are found in almost all cases of epithelioid haemangioendothelioma. '), ('4334', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '26797802', '99', 'hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' With the exception of the presence of the FIP1L1-PDGFRA fusion gene, little is known about predictors of imatinib response in clinically-defined hypereosinophilic syndrome (HES). '), ('4335', 'PAX5_ESRRB', '', 'PAX5', 'ESRRB', '26494837', '99', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', '', '', 'PAX5-ESRRB is a recurrent fusion gene in B-cell precursor pediatric acute lymphoblastic leukemia.. '), ('4336', 'FUS_CHOP', '', 'FUS', 'CHOP', '24213580', '99', 'liposarcoma;sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' To elucidate the mechanisms behind the high sensitivity of myxoid/round cell liposarcoma (MRCL) to trabectedin and the suggested selectivity for specific subtypes, we have developed and characterized three MRCL xenografts, namely ML017, ML015 and ML004 differing for the break point of the fusion gene FUS-CHOP, respectively of type I, II and III.     ///    Doxorubicin did not affect the binding of FUS-CHOP to target promoters.     ///    \"FUS-CHOP binding to the promoters of some target genes such as Pentraxin 3 or Fibronectin 1, assessed by chromatin immunoprecipitation, was strongly reduced in the tumor 24?h after the first or the third weekly dose of trabectedin, indicating that the drug at therapeutic doses causes a detachment of the FUS-CHOP chimera from its target promoters as previously shown in vitro. \"'), ('4337', 'ETO_AML1', 't(8;21)(q22;q22) / ', 'ETO', 'AML1', '20688956', '99', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' Among mutations in human Runx1/AML1 transcription factors, the t(8;21)(q22;q22) genomic translocation that creates an AML1-ETO fusion protein is implicated in etiology of the acute myeloid leukemia.     ///    \"Expression of AML1-ETO caused an expansion of hematopoietic precursors in Drosophila, which expressed high levels of reactive oxygen species (ROS). \"'), ('4338', 'BCR_ABL1', '', 'BCR', 'ABL1', '19605820', '99', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'CML is a myeloproliferative neoplasm arising at the level of a pluripotent stem cell and consistently associated with the BCR-ABL1 fusion gene. '), ('4339', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '17541273', '99', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' EoL-1 cells have a FIP1L1-PDGFRA fusion gene which causes the transformation of eosinophilic precursor cells into leukemia cells.     ///    \"However, neither apicidin nor n-butyrate inhibited the expression of FIP1L1-PDGFRA mRNA, although both these inhibitors suppressed cell proliferation. \"'), ('4340', 'TSC2_RNF216', '', 'TSC2', 'RNF216', '24690483', '99', 'stomach cancer', '', '', '', 'Tumor_suppressor', '', '', '', '', 'After thorough structural analysis, a novel fusion gene TSC2-RNF216 is identified, which may simultaneously disrupt tumor-suppressive pathways and activate tumorigenesis. '), ('4341', 'ISOC1_FBN2', '', 'ISOC1', 'FBN2', '24348270', '99', 'microphthalmia\r\r', '', '', '', '', '', '', '', '', 'The Isoc1-Fbn2 fusion gene (Isoc1(Mp)) mRNA has a frameshift and early stop codon resulting in nonsense mediated decay.     ///    \"The Fbn2-Isoc1 fusion gene (Fbn2 (Mp)) predicted protein consists of the N-terminal Fibrillin-2 (amino acids 1-2646, exons 1-62) lacking the C-terminal furin-cleavage site with a short out-of-frame extension encoded by the final exon of Isoc1. \"'), ('4342', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '21200020', '99', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'N-Ras(G12D) induces features of stepwise transformation in preleukemic human umbilical cord blood cultures expressing the AML1-ETO fusion gene..     ///     AML1-ETO (AE) is a fusion product of t(8;21) observed in 40% French-American-British M2 type of acute myeloid leukemia (AML). '), ('4343', 'ETO_AML1', 't(8;21)  / t(8;21) / ', 'ETO', 'AML1', '23812588', '99', '', '', '', '', '', '', '', '', '', 'AML1-ETO, a fusion protein generated by the t(8;21) translocation in acute myeloid leukaemia, is a transcription factor implicated in both gene repression and activation.     ///    \"These results reveal new mechanisms of action of AML1-ETO, and provide a potential therapeutic target in t(8;21)-positive acute myeloid leukaemia. \"    ///    A stable transcription factor complex nucleated by oligomeric AML1-ETO controls leukaemogenesis..     ///    \"AML1-ETO oligomerization, mediated by the NHR2 domain, is critical for leukaemogenesis, making it important to identify co-regulatory factors that \'read\' the NHR2 oligomerization and contribute to leukaemogenesis. \"    ///    \"Within the AETFC complex, AML1-ETO oligomerization is required for a specific interaction between the oligomerized NHR2 domain and a novel NHR2-binding (N2B) motif in E proteins. \"'), ('4344', 'IDH2_IDH1', '', 'IDH2', 'IDH1', '24532263', '99', 'astrocytoma', 'PCR', '', 'Oncogene', '', '', '', '', '', 'Analysis of KIAA1549-BRAF fusion gene expression and IDH1/IDH2 mutations in low grade pediatric astrocytomas..     ///    \"Mutations in the R132/R172 residues of the IDH1/IDH2 genes were detected in only two samples, and the G105G polymorphism (rs11554137:C>T) was identified in ten patients. \"'), ('4345', 'JJAZ1_JAZF1', '', 'JJAZ1', 'JAZF1', '20368795', '99', 'carcinosarcoma;endometrial cancer', '', '', '', '', '', '', '', '', 'For endometrial neoplasms with a malignant mesenchymal component, C-MYC mutations and loss of heterozygosity are frequently seen in carcinosarcomas, and a fusion gene, JAZF1/JJAZ1, is distinctive for endometrial stromal sarcoma. '), ('4346', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '18307562', '99', 'hypereosinophilic syndrome', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'A subset of HES patients presents an interstitial deletion in chromosome 4q12, which leads to the expression of an imatinib-responsive fusion gene, FIP1L1-PDGFRA.     ///    \"We treated seven CEL and HES patients, six of which expressed FIP1L1-PDGFRA, with imatinib using initial daily doses ranging from 100 to 400 mg. \"    ///    \"All imatinib-treated patients achieved a complete haematological remission (CHR), and five of the six patients with FIP1L1-PDGFRA expression exhibited molecular remission. \"'), ('4347', 'EML4_ALK', '', 'EML4', 'ALK', '22336170', '99', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', '[Study of EML4-ALK fusion gene as a biomarker in non-small cell lung cancer].. '), ('4348', 'RCSD1_ABL1', '', 'RCSD1', 'ABL1', '23168614', '99', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Acute lymphoblastic leukemia associated with RCSD1-ABL1 novel fusion gene has a distinct gene expression profile from BCR-ABL1 fusion.. '), ('4349', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '23025324', '99', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Myeloid neoplasms with eosinophilia and FIP1L1-PDGFRA fusion gene: another point of view.. '), ('4350', 'BCR_ABL1', '', 'BCR', 'ABL1', '26773444', '99', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The presence of the BCR/ABL1 fusion gene in childhood acute lymphoblastic leukaemia (ALL) is a rare finding and has been an adverse prognostic factor associated with a high risk of therapeutic failure.     ///    The current key components of treatment are intensive polychemotherapy and a BCR/ABL1 kinase domain inhibitor. '), ('4351', 'NUP98_NSD1', '', 'NUP98', 'NSD1', '22945772', '99', '', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'A rare but specific subset of adult AML patients can be defined by the cytogenetically cryptic NUP98-NSD1 fusion gene.. '), ('4352', 'ETO_AML1', '', 'ETO', 'AML1', '12538342', '99', 'Bloom syndrome;paroxysmal nocturnal hemoglobinuria', '', '', '', '', '', '', '', '', 'conversely, fusion genes, TEL-AML1/AML1-ETO, typical of leukemia, are 100 times more frequent at birth than in overt leukemia in children, indicating that further selective events are needed to cause malignancy. '), ('4353', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '15455302', '99', 'hypereosinophilic syndrome;hematologic malignancy\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ': Despite negativity for the FIP1L1-PDGFRA fusion gene, therapy was started with the tyrosine kinase inhibitor Imatinib.     ///    Imatinib provides a potent therapeutic option in FIP1L1-PDGFRA negative patients suffering from HES.. '), ('4354', 'MYST3_CREBBP', 't(8;16)(p11;p13) / ', 'MYST3', 'CREBBP', '15540217', '99', '', '', '', '', '', '', 'Transcription_Factor', 'KB', '', 'MYST3/CREBBP (MOZ/CBP) and CREBBP/MYST3 (CBP/MOZ) transcripts in AML with t(8;16)(p11;p13).. '), ('4355', 'VIP_CAT', '', 'VIP', 'CAT', '3200839', '99', 'neuroblastoma\r\r', '', '', '', '', '', '', '', '', 'In cells transfected with the VIP/CAT fusion gene, CAT activity reflected closely these differences in basal VIP expression and the changes in response to PMA and forskolin. '), ('4356', 'NPM_ALK', '', 'NPM', 'ALK', '19131589', '99', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Proteome-wide identification of novel binding partners to the oncogenic fusion gene protein, NPM-ALK, using tandem affinity purification and mass spectrometry..     ///    We believe that these data highlight the functional diversity of NPM-ALK and provide new research directions for the study of the biology of this oncoprotein..     ///    \"We also identified proteins that are involved in various cellular processes that were not previously described in association with NPM-ALK, such as MCM6 and MSH2 (DNA repair), Nup98 and importin 8 (subcellular protein transport), Stim1 (calcium signaling), 82Fip (RNA regulation), and BAG2 (proteosome degradation). \"    ///    The NPM-ALK gene was cloned into an HB-tagged vector and expressed in GP293 cells. '), ('4357', 'PDGFRB_EBF1', '', 'PDGFRB', 'EBF1', '27210878', '99', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', '', '', 'Receptor', '', '', '', '[Ph-like B cell precursor acute lymphoblastic leukemia with EBF1-PDGFRB fusion gene: a case report and literatures review].. '), ('4358', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '21645124', '99', 'dermatofibrosarcoma protuberans;sarcoma\r\r', '', '', 'Oncogene', '', '', '', 'KB', '', 'Irresectable or metastatic transformed DFSP harbouring the COL1A1-PDGFB fusion gene should be treated with imatinib in the palliative setting or as an adjunctive treatment before surgery, although responses may be short-lasting.. '), ('4359', 'RET_KIF5B', '', 'RET', 'KIF5B', '24262090', '99', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', '[The progress of KIF5B-RET fusion gene in non-small cell lung cancer].. '), ('4360', 'KIAA1549_BRAF', '', 'KIAA1549', 'BRAF', '20976706', '99', 'pilocytic astrocytoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'As the KIAA1549-BRAF fusion gene is detected at a much lower frequency in diffuse low-grade astrocytomas and survival was much longer than expected in the patients with a \'non-pilocytic\' astrocytoma carrying the fusion gene, identification of this fusion gene can be of diagnostic and prognostic value. '), ('4361', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '17034555', '99', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Eosinophilic cellulitis as a presenting feature of chronic eosinophilic leukaemia, secondary to a deletion on chromosome 4q12 creating the FIP1L1-PDGFRA fusion gene.. '), ('4362', 'ETO_AML1', '', 'ETO', 'AML1', '21168207', '99', 'myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'In addition, significant negative correlations were observed between CMTM5 and three leukemia-specific fusion genes (AML1-ETO, PML-RAR? and BCR/ABL1). '), ('4363', 'ROS_FIG', '', 'ROS', 'FIG', '24968753', '99', 'cholangiocarcinoma\r\r', '', '', '', '', '', '', '', '', 'The aim of this study was to demonstrate the role of fused-in-glioblastoma-c-ros-oncogene1?(FIG-ROS) fusion gene in ICC.     ///    \"In summary, the results suggest that FIG-ROS plays an oncogenic role in ICC. \"    ///    \"Downregulation of ROS-FIG inhibits cell proliferation, colony?formation, cell cycle progression, migration and invasion, while inducing apoptosis in intrahepatic cholangiocarcinoma cells.. \"    ///    \"Additionally, ROS1-6290 and FIG-363 segments may become effective therapeutic targets for ICC harboring ROS-FIG fusion protein. \"'), ('4364', 'BCR_ABL1', '', 'BCR', 'ABL1', '25361367', '99', 'compartment syndrome', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Further testing included the BCR-ABL1 fusion gene located on the Philadelphia chromosome, leading to a diagnosis of chronic myeloid leukemia. '), ('4365', 'ETO_AML1', '', 'ETO', 'AML1', '16645213', '99', '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). '), ('4366', 'PAX3_FKHR', 't(2;13)  / t(2;13) (q35;q14) / t(2;13) / ', 'PAX3', 'FKHR', '7862145', '99', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The PAX3-FKHR fusion protein created by the t(2;13) translocation in alveolar rhabdomyosarcomas is a more potent transcriptional activator than PAX3..     ///    \"The PAX3-FKHR protein was localized to the nucleus in Rh30 cells, as was wild-type PAX3, in t(2;13)-negative A673 cells. \"    ///    Sequential immunoprecipitations with anti-PAX3 and anti-FKHR sera demonstrated expression of a 97-kDa PAX3-FKHR fusion protein in the t(2;13)-positive rhabdomyosarcoma Rh30 cell line and verified that a single polypeptide contains epitopes derived from each protein.     ///    The PAX3-FKHR protein may function as an oncogenic transcription factor by enhanced activation of normal PAX3 target genes..     ///    Antisera specific to PAX3 and FKHR were developed and used to examine PAX3 and PAX3-FKHR expression in tumor cell lines.     ///    \"In gel shift assays using a canonical PAX binding site (e5 sequence), we found that DNA binding of PAX3-FKHR was significantly impaired relative to that of PAX3 despite the two proteins having identical PAX DNA-binding domains. \"    ///    \"To determine the role of the fusion protein in transcriptional regulation and oncogenesis, we identified the PAX3-FKHR fusion protein and characterized its function(s) as a transcription factor relative to wild-type PAX3. \"    ///    \"However, the PAX3-FKHR fusion protein was a much more potent transcriptional activator than PAX3 as determined by transient cotransfection assays using e5-CAT reporter plasmids. \"'), ('4367', 'MLL_ENL', '', 'MLL', 'ENL', '21953510', '99', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Clinical outcome and monitoring of minimal residual disease in patients with acute lymphoblastic leukemia expressing the MLL/ENL fusion gene..     ///    \"The observed inconsistency between the clinical cure and the presence of detectable MLL/ENL transcript suggests the existence of a MLL/ENL-expressing \"\"preleukemia\"\" stem cells, similar to what demonstrated for the AML1/ETO-positive leukemia setting.. \"    ///     We analyzed 12 MLL/ENL positive ALL patients consecutively diagnosed between 1999 and 2009.     ///    \"Further, a MLL/ENL expression, not preceding a relapse, was detected several times during the follow-up of five long-survivors. \"    ///    The minimal residual disease molecular monitoring showed that MLL/ENL status did not correlate with outcome.     ///    \"At CR, a parallel RT-PCR evaluation of the MLL/ENL expression was available in 5 cases. \"    ///    \"Of these latter, 2 tested MLL/ENL-negative and 3 positive. \"    ///    \"The MLL/ENL fusion was identified in 4/150 (2.6%), 8/993 (0.8%), and 0/70 of pediatric, adult, and elderly patients, respectively. \"    ///    \"In conclusion, also in adults, the MLL/ENL fusion identifies a rare leukemic entity with a favorable prognosis. \"'), ('4368', 'BGAL11_K18', '', 'BGAL11', 'K18', '7504637', '99', '', '', '', '', '', '', '', '', '', 'Embryonic expression of human keratin 18 and K18-beta-galactosidase fusion genes in transgenic mice.. '), ('4369', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '26269126', '99', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Its most common chromosomal aberration is the ETV6-RUNX1 fusion gene, with ~25% of ETV6-RUNX1 patients also carrying PAX5 alterations.     ///    Powerful synergies exists in our model suggesting STAT pathway activation and mutation of Trp53 are potent drivers of B-ALL in the context of Etv6-RUNX1;Pax5(+/-)..     ///    Somatic drivers of B-ALL in a model of ETV6-RUNX1.     ///    We have recreated this mutation background by inter-crossing Etv6-RUNX1 (Etv6 (RUNX1-SB)) and Pax5(+/-) mice and performed an in vivo analysis to find driver genes using Sleeping Beauty transposon-mediated mutagenesis and also exome sequencing.     ///    Combination of Etv6-RUNX1 and Pax5(+/-) alleles generated a transplantable B220 + CD19+ B-ALL with a significant disease incidence. '), ('4370', 'NTRK3_ETV6', '', 'NTRK3', 'ETV6', '25989870', '99', 'myofibromatosis;respiratory failure', '', 'Kinase', '', '', '', '', 'KB', 'Seq', 'Neither ETV6-NTRK3 nor ACTB-GLI fusion gene was identified. '), ('4371', 'GLI_ACTB', '', 'GLI', 'ACTB', '25989870', '99', 'myofibromatosis;respiratory failure', '', '', '', '', '', 'Transcription_Factor', '', '', 'Neither ETV6-NTRK3 nor ACTB-GLI fusion gene was identified. '), ('4372', 'TEL_MN1', 't(12;22)(p13;q11) / ', 'TEL', 'MN1', '16081688', '99', 'leukemia\r\r', '', '', '', '', '', '', '', '', ' The MN1-TEL (meningioma 1-translocation-ETS-leukemia) fusion oncoprotein is the product of the t(12;22)(p13;q11) in human myeloid leukemia consisting of N-terminal MN1 sequences, a transcriptional coactivator, fused to C-terminal TEL sequences, an E26-transformation-specific (ETS) transcription factor.     ///    MN1-TEL also promoted the proliferation of thymocytes while it blocked their differentiation from CD4-/CD8- to CD4+/CD8+ in vivo.     ///    \"We conclude that MN1-TEL exerts its nonlineage-specific leukemogenic effects by promoting the growth of primitive progenitors and blocking their differentiation, but cooperative mutations are necessary to fully induce leukemic transformation.. \"    ///    \"After induction, MN1-TEL expression was detected in both myeloid and lymphoid cells. \"    ///    \"To analyze the role of MN1-TEL in leukemogenesis, we created a site-directed transgenic (knock-in) mouse model carrying a conditional MN1-TEL transgene under the control of the Aml1 regulatory sequences. \"    ///    Activation of MN1-TEL expression enhanced the repopulation ability of myeloid progenitors in vitro as well as partially inhibited their differentiation in vivo.     ///    MN1-TEL myeloid oncoprotein expressed in multipotent progenitors perturbs both myeloid and lymphoid growth and causes T-lymphoid tumors in mice.. '), ('4373', 'ETO_AML1', '', 'ETO', 'AML1', '15667548', '99', '', '', '', '', '', '', '', '', '', 'The co-expression of PML/RAR alpha and AML1/ETO fusion genes is associated with ATRA resistance.. '), ('4374', 'FN1_FGFR1', '', 'FN1', 'FGFR1', '26464698', '99', '', '', 'Kinase', '', '', '', '', '', '', 'Fibroblast growth factor receptor 1 (FGFR1) is a known receptor of FGF23, and it was recently found that the fibronectin 1 (FN1)-FGFR1 fusion gene is present in 60% of PMT cases.     ///    \"The aforementioned 36% of cases may reflect the presence of the FN1-FGFR1 fusion gene, as the FN1 promoter enhances FGFR1 expression. \"'), ('4375', 'EML4_ALK', '', 'EML4', 'ALK', '25180059', '99', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', '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%). '), ('4376', 'FUS_CHOP', '', 'FUS', 'CHOP', '23836491', '99', 'liposarcoma;sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'We report that FUS-CHOP, a hallmark fusion gene in mixoid liposarcoma (MLS), has an instructive role in lineage commitment, and its expression in hMSC sequentially immortalized/transformed with up to five oncogenic hits (p53 and Rb deficiency, hTERT over-expression, c-myc stabilization, and H-RAS(v12) mutation) drives the formation of serially transplantable MLS.     ///    Expression of FUS-CHOP fusion protein in immortalized/transformed human mesenchymal stem cells drives mixoid liposarcoma formation.. '), ('4377', 'TEL_AML1', '', 'TEL', 'AML1', '25286695', '99', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'CD20+ BCP patients had 12.20% Philadelphia positive ALL and 6.50% BCP-ALL with TEL-AML1 fusion gene, compared with 4.86% (P = 0.03) and 18.06% (P = 0.005) in those of CD20 BCP. '), ('4378', 'RARA_PL', 't(15;17)  / ', 'RARA', 'PL', '20508621', '99', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'In acute promyelocytic leukemia (APL), the promyelocytic leukemia-retinoic-acid receptor alpha (PML-RARA) fusion protein, which emerges as a consequence of the t(15;17) translocation, acts as a transcriptional repressor that blocks neutrophil differentiation at the promyelocyte (PM) stage. '), ('4379', 'HES_CEL', '', 'HES', 'CEL', '21841337', '99', 'leukemia;hypereosinophilic syndrome\r\r', '', '', '', '', '', '', '', '', 'Although imatinib mesylate (IM) is usually ineffective for the treatment of HES/CEL with negative-F/P fusion gene, in the present case it led to the remission of HES/CEL and UC at a higher drug dosage level (400 mg/day). '), ('4380', 'SYT_SSX', '', 'SYT', 'SSX', '17272904', '99', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'From the histological and immunohistochemical features, as well as the absence of SYT-SSX fusion gene expression, the diagnosis of MPNST with focal epithelioid differentiation was made. '), ('4381', 'MYH11_CBFB', 'inv(16)  / ', 'MYH11', 'CBFB', '25804769', '99', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' Eighty-six adult patients with inv(16) acute myeloid leukemia (AML) in first complete remission (CR1) were serially monitored for CBFB-MYH11 transcript levels during the early courses of chemotherapy.     ///    \"For patients receiving chemotherapy/autologous SCT, the sole independent adverse prognostic factor for the cumulative incidence of relapse (CIR), disease-free survival (DFS) and overall survival (OS) was a CBFB-MYH11 level > 0.2% after course 2 consolidation (p = 0.003, 0.003 and 0.031), which was used to define a poor molecular response (MR). \"'), ('4382', 'ROX_MNT', '17p13.3 / ', 'ROX', 'MNT', '15519529', '99', 'neuroectodermal tumor', '', '', '', '', '', '', '', '', 'Analysis of transcripts from 17p13.3 in medulloblastoma suggests ROX/MNT as a potential tumour suppressor gene..     ///    \"Of 119 genes residing in this region, seven genes--14-3-3epsilon (YWHAE), HIC-1, ROX/MNT (a helix-loop-helix transcription factor and member of the MYC/MAX superfamily), KIAA0399, UBE2G1 (ubiquitin ligase), ALOX15, and MINK--encode proteins with potential links to cancer. \"    ///    \"We investigated these genes and found significant levels of expression of ROX/MNT in adult human cerebellum, and in embryonic and postnatal mouse cerebellum. \"    ///    \"Six of 14 medulloblastomas showed a reduction of ROX/MNT expression, accompanied by a reduction of both UBE2G1 and 14-3-3epsilon in three tumours and a reduction of UBE2G1 in one tumour. \"    ///    \"Moreover, the relative expression of MYC to ROX/MNT was increased in 4 of the 14 medulloblastomas. \"    ///    \"Collectively, these data suggest that ROX/MNT should be considered a potential tumour suppressor gene in medulloblastoma.. \"'), ('4383', 'SYT_SSX', '', 'SYT', 'SSX', '11866984', '99', 'synovial sarcoma;adenocarcinoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', '[Detection of SYT-SSX fusion gene in paraffin-embedded tissues and its clinicopathologic significance for synovial sarcoma]..     ///    (1) Detection of SYT-SSX fusion gene in paraffin-embedded tissues was found to be a sensitive and specific method for the diagnosis and differential diagnosis of synovial sarcoma.     ///     To investigate the feasibility of detecting SYT-SSX fusion gene in paraffin-embedded tissues and its diagnostic significance for synovial sarcoma (SS).     ///    SYT-SSX fusion transcripts was detected in 33 of the 38 synovial sarcoma specimens.     ///    SYT-SSX fusion transcripts were detected in all samples by RT-PCR.     ///    \"In 33 SYT-SSX positive synovial sarcomas, 22 had SYT-SSX1 and 6 had SYT-SSX2 fusion transcripts. \"    ///    (2) There was an association between SYT-SSX fusion type and histologic subtype.SYT-SSX2 fusion transcript could only be found in monophasic synovial sarcomas..     ///    SYT-SSX mRNA expression rate reached 89.2% (33/37) in synovial sarcomas after exclusion of 1 case which was negative for both SYT-SSX and PBGD.     ///    No SYT-SSX mRNA expression was found in control tumors.     ///    There was an association between SYT-SSX fusion type and histologic subtype. '), ('4384', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '18504399', '99', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'EoL-1 cells have an FIP1L1-PDGFRA fusion gene that causes transformation of eosinophilic precursor cells into leukemia cells.     ///    The HDAC inhibitors apicidin and n-butyrate suppress the proliferation of EoL-1 cells and induce differentiation into eosinophils by a decrease in the protein level of FIP1L1-PDGFRalpha without affecting the mRNA level for FIP1L1-PDGFRA.     ///    The decrease in the level of FIP1L1-PDGFRalpha protein by continuous inhibition of HDAC may be due to the decrease in the translation rate of FIP1L1-PDGFRA.. '), ('4385', 'SSX_SS18', '', 'SSX', 'SS18', '18714179', '99', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' Substantial evidence indicates that the characteristic SS18-SSX fusion gene may play an important role in synovial sarcoma development and progression. '), ('4386', 'PDGFRB_ETV6', '', 'PDGFRB', 'ETV6', '22432087', '99', 'large granular lymphocyte leukemia', '', 'Kinase', '', '', 'Receptor', '', 'KB', '', '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. '), ('4387', 'ETO_AML1', '', 'ETO', 'AML1', '21729552', '99', 'T ALL;leukemia\r\r', '', '', '', '', '', '', '', '', 'Among 361 pediatric AML patients who had been examined by using molecular biology technique, 19% of the patients showed positive AML1/ETO fusion gene, 18% of the patients showed positive PML/RAR? fusion gene, while 4.2% of patients showed positive CBF?/MYH11. '), ('4388', 'BCR_ABL1', '', 'BCR', 'ABL1', '20607847', '99', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' In patients with chronic myeloid leukemia (CML), resistance against imatinib is associated with mutations in the kinase domain (KD) of the BCR-ABL1 fusion gene and/or with additional chromosomal abnormalities (ACAs) secondary to the Philadelphia chromosome. '), ('4389', 'BCR_ABL1', '', 'BCR', 'ABL1', '25637689', '99', 'polycythemia vera\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In a group of 27 Mexican mestizo patients with MPNs, we studied seven molecular markers: the BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation, the MPL W515K mutation, and the calreticulin (CALR) exon 9 deletion or insertion.     ///    Patients with the BCR/ABL1 fusion gene were excluded. '), ('4390', 'PCM1_JAK2', '', 'PCM1', 'JAK2', '23630205', '99', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Efficacy of ruxolitinib in chronic eosinophilic leukemia associated with a PCM1-JAK2 fusion gene.. '), ('4391', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '19494514', '99', 'myeloproliferative disorder;leukemia;hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'As such, the fusion gene FIP1L1/PDGFRA was found as a cause of CEL in a significant proportion of patients initially diagnosed as having HES. '), ('4392', 'NCOA2_GTF2I', '', 'NCOA2', 'GTF2I', '23225380', '99', 'angiofibroma\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'A novel GTF2I/NCOA2 fusion gene emphasizes the role of NCOA2 in soft tissue angiofibroma development.. '), ('4393', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '18642766', '99', 'prostate cancer\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2/ERG and TMPRSS2/ETV1 fusion genes may be used as diagnostic tools for PCa..     ///    \"Nested RT-PCR and direct DNA sequencing were used to detect the fusion genes of TMPRSS2/ERG, TMPRSS2/ETV1, and TMPRSS2/ETV4. \"    ///    TMPRSS2/ERG and TMPRS22/ETV1 fusion genes with different subtypes exist in the tissues of PCa.     ///    The positive rates of TMPRSS2/ERG and TMPRSS2/ETV1 fusions showed no statistical association with the Gleason grade (P = 0.169). '), ('4394', 'STRN_ALK', '', 'STRN', 'ALK', '24706668', '99', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The STRN-ALK fusion gene promotes thyroid cell transformation and dependency on ALK signaling.     ///    STRN-ALK Is a Potential Therapeutic Target in Aggressive Thyroid Cancer.. '), ('4395', 'BCR_ABL1', '', 'BCR', 'ABL1', '25085003', '99', 'Barrett\'s esophagus', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We show its ability to increase the inactivation of a stably inserted reporter gene in a chicken cell line that lacks any other AID/APOBEC proteins, and to increase the number of imatinib-resistant clones in a human cellular model for chronic myeloid leukemia through induction of mutations in the BCR-ABL1 fusion gene. '), ('4396', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '20493449', '99', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Many abstract on prevention, natural history and tumor markers such as PCa3 and fusion gene TMPRSS2 : ERG were presented. '), ('4397', 'ETO_AML1', '', 'ETO', 'AML1', '20444543', '99', 'acute myeloid leukemia', '', '', '', '', '', '', '', '', ' Acute myeloid leukemia (AML) arises from genetic changes at the level of stem cell, various mutations have been elucidated, including AML1-ETO fusion gene has been shown as the representative target of cellular transformation for LSCs originating from hematopoietic stem cells (HSCs) compartment.     ///    \"Furthermore, AML1/ETO fusion signals and MDR1 expression were detected on the CD34(+)/CD38(-)/CD123(+) LSCs populations expressing N-Cadherin and Tie2. \"'), ('4398', 'BCL2_IGH', '', 'BCL2', 'IGH', '19379568', '99', 'follicular lymphoma;B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', '[Detection of bcl-2/IgH fusion gene in lymphoma by real-time polymerase chain reaction and its clinical significance]..     ///    \"It is concluded that the bcl-2/IgH expression level is associated with the disease status, the expression level is high in newly diagnosed and relapsed patients and low in those who achieved remission, the bcl-2/IgH fusion gene expression level decreased evidently after therapy, this change may be related to the clinical disease progression, the results suggest that peripheral blood can be regarded as the resource for detection of bcl-2/IgH fusion gene.. \"    ///    \"The results showed that in patients with bcl-2/IgH-positive there was no statistically significant difference in the relative copy-numbers of bcl-2/IgH fusion gene in BM and PB (4.23 and 2.73 respectively, p = 0.107), but the difference was significant before and after treatment (3.61 and 2.69 respectively, p = 0.000), the expression level of bcl-2/IgH fusion gene in newly diagnosed and relapsed group was remarkably higher than that in remission group (p = 0.008). \"    ///    The bcl-2/IgH expression level in PB increased evidently 3 months prior to the clinical relapse in one case out of dynamically monitored 4 cases.     ///    \"The bcl-2/IgH expression levels in bone marrow (BM) and/or peripheral blood (PB) of 20 patients were detected by using SYBR Green I real-time polymerase chain reaction, and the dynamic monitoring for bcl-2/IgH expression level in 4 of these patients was performed. \"    ///     The aim of this study was to investigate the bcl-2/IgH expression levels in patients with follicular lymphoma (FL) and diffuse large B-cell lymphoma (DLBCL) and its clinical significance. '), ('4399', 'EML4_ALK', '', 'EML4', 'ALK', '24277751', '99', 'lung cancer;sarcoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Pulmonary inflammatory myofibroblastic tumor harboring EML4-ALK fusion gene.. '), ('4400', 'SYT_SSX', '', 'SYT', 'SSX', '26217552', '99', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' SS18-SSX (formerly called SYT-SSX) fusion gene has been established clinically as a molecular diagnostic test for synovial sarcoma, but the prognostic value of the fusion gene variant for survival is controversial.     ///    Prognostic value of SS18-SSX fusion type in synovial sarcoma.     ///    The objective of this systematic review is to provide an up-to-date and unprecedented summary of the prognostic impact of SS18-SSX fusion type in synovial sarcoma.     ///    \"Studies evaluating SS18-SSX fusion type as a prognostic marker in synovial sarcoma were systematically searched for in MEDLINE, EMBASE, and Web of Science. \"'), ('4401', 'BCR_ABL1', '', 'BCR', 'ABL1', '26309809', '99', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We reported previously that CML cells expressing the BCR/ABL1 fusion gene, accumulated a high level of reactive oxygen species (ROS) due to deregulated mitochondrial electron transport chain, which in turn led to genomic instability, resulting in imatinib resistance.     ///    Reactive Oxygen Species and Mitochondrial DNA Damage and Repair in BCR-ABL1 Cells Resistant to Imatinib..     ///    \"ROS level in cells with primary resistance, which resulted from the T315I mutation in BCR/ABL1, was higher than in cells with acquired resistance. \"'), ('4402', 'FLI_EWS', 't(11;22)(q24;q12) / ', 'FLI', 'EWS', '21872822', '99', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'At the molecular genetic level Ewing\'s sarcoma is characterized by a balanced reciprocal translocation, t(11;22)(q24;q12), which encodes an oncogenic fusion protein and transcription factor EWS/FLI.     ///    \"In addition to EWS/FLI, variant translocation fusions belonging to the TET/ETS family have been identified in Ewing\'s sarcoma. \"'), ('4403', 'EML4_ALK', '', 'EML4', 'ALK', '27103824', '99', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We aimed at revealing the clinical features of EML4-ALK fusion gene and EGFR mutation in non-small-cell lung cancer (NSCLC).     ///    The EGFR mutations and the EML4-ALK fusion genes are coexistent..     ///    Six patients who harbored both EML4-ALK fusion genes and EGFR mutations were identified in our study.     ///    EML4-ALK fusion gene defines a new molecular subset in patients with NSCLC.     ///    \"In continuity correction ?? (2) test analysis, EML4-ALK fusion gene was correlated with sex, age, smoking status, and histology, but no significant association was observed between EML4-ALK fusion gene and clinical stage. \"    ///    \"EML4-ALK fusion gene was analyzed by real-time polymerase chain reaction, and EGFR mutations were analyzed by amplified refractory mutation system. \"    ///    Detection of EML4-ALK fusion gene and features associated with EGFR mutations in Chinese patients with non-small-cell lung cancer..     ///     Echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase (EML4-ALK) and epidermal growth factor receptor (EGFR) define specific molecular subsets of lung cancer with distinct clinical features.     ///    \"Among the 694 patients, 60 (8.65%) patients had EML4-ALK fusions. \"    ///    \"Meanwhile, to our surprise, six (0.86%) patients had coexisting EML4-ALK fusions and EGFR mutations. \"');
INSERT INTO `ChimerPub_dump` VALUES ('4404', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '17299092', '99', 'myeloproliferative disorder;leukemia\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The FIP1L1-PDGFRA fusion gene is a recurrent molecular lesion in eosinophilia-associated myeloproliferative disorders, predicting a favorable response to imatinib mesylate.     ///    The FIP1L1-PDGFRA fusion transcript was detected at a sensitivity of 1 in 10(5) in serial dilution of the EOL-1 cell line.     ///    \"Overall, 11 of 11 evaluable patients achieved at least a 3-log reduction in FIP1L1-PDGFRA fusion transcripts relative to the pretreatment level within 12 months, with achievement of molecular remission in 9 of 11 (assay sensitivities 1 in 10(3)-10(5)). \"    ///    \"In 2 patients, withdrawal of imatinib was followed by a rapid rise in FIP1L1-PDGFRA transcript levels. \"    ///    Normalized FIP1L1-PDGFRA transcript levels in patient samples prior to imatinib varied by almost 3 logs.     ///    Serial monitoring was undertaken in patients with a high level of FIP1L1-PDGFRA expression prior to initiation of imatinib (100 mg/d-400 mg/d). '), ('4405', 'FN1_FGFR1', '', 'FN1', 'FGFR1', '25319834', '99', '', 'PCR;RT-PCR', 'Kinase', '', '', '', '', '', '', 'In this study, we identified a novel FN1-FGFR1 fusion gene in three out of four PMTs by next-generation RNA sequencing.     ///    \"Interestingly, unlike the prototypical leukaemia-inducing FGFR1 fusion genes, which are ligand-independent, the FN1-FGFR1 chimeric protein was predicted to preserve its ligand-binding domains, suggesting an advantage of the presence of its ligands (such as FGF23 secreted at high levels by the tumour) in the activation of the chimeric receptor tyrosine kinase, thus effecting an autocrine or a paracrine mechanism of tumourigenesis.. \"    ///    Identification of a novel FN1-FGFR1 genetic fusion as a frequent event in phosphaturic mesenchymal tumour..     ///    Fluorescence in situ hybridization analysis showed six cases with FN1-FGFR1 fusion out of an additional 11 PMTs. '), ('4406', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '21171248', '99', 'leukemia;hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'HES can directly affect the eosinophil lineage (often linked to a fusion gene FIP1L1-PDGFRA, and corresponding in this case to chronic eosinophilic leukemia), or the lymphoid lineage, where eosinophilia is secondary to expansion of a T cell subset overproducing interleukin-5, a cytokine involved in eosinophilopoiesis. '), ('4407', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '24603276', '99', 'hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The authors describe a case of sudden-onset cardiac failure in a young individual who had marked peripheral eosinophilia and detection of FIP1L1/PDGFRA fusion gene. '), ('4408', 'STAT6_NAB2', '', 'STAT6', 'NAB2', '25554652', '99', 'liposarcoma;solitary fibrous tumor;sarcoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'In this study, we validated the existence of the NAB2-STAT6 fusion gene in SFTs and examined its relation with the pathological features.     ///    \"In addition, 1 of the 2 NAB2-STAT6 fusion gene-negative tumors showed amplification of the MDM2 and CDK4 genes. \"    ///    \" Recently, a novel fusion transcript, NAB2-STAT6, and its variants have also been reported to be specific diagnostic markers for solitary fibrous tumors (SFTs). \"    ///    \"It was suggested that a certain proportion of tumors previously diagnosed as malignant SFTs with high-grade nuclear atypia lacking NAB2-STAT6 should be categorized into a special subtype of SFT, which is genetically different from conventional SFTs, and which cannot be apparently distinguished from dedifferentiated liposarcoma or undifferentiated pleomorphic sarcoma. \"'), ('4409', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '22983443', '99', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Together, these results highlight the dual importance of ETS factors in t(8;21) leukemogenesis, both as transcriptional regulators of the oncofusion protein itself as well as proteins that facilitate AML1-ETO binding..     ///    Here genome-wide analysis revealed that both ERG and FLI1 occupy similar genomic regions as AML1-ETO in t(8;21) AMLs and identified ERG/FLI1 as proteins that facilitate binding of oncofusion protein complexes.     ///    \"In addition, we demonstrate that ERG and FLI1 bind the RUNX1 promoter and that shRNA-mediated silencing of ERG leads to reduced expression of RUNX1 and AML1-ETO, consistent with a role of ERG in transcriptional activation of these proteins. \"    ///    ERG and FLI1 binding sites demarcate targets for aberrant epigenetic regulation by AML1-ETO in acute myeloid leukemia..     ///    \"This intimate connection between ERG/FLI1 binding and H3 acetylation implies that one of the molecular strategies of oncofusion proteins, such as AML1-ETO and PML-RAR-?, involves the targeting of histone deacetylase activities to ERG/FLI1 bound hematopoietic regulatory sites. \"'), ('4410', 'NUP98_HOXD13', '', 'NUP98', 'HOXD13', '22323452', '99', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', '', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'We therefore combined the FLT3/ITD mutation with a model of myelodysplastic syndrome involving transgenic expression of the Nup98-HoxD13 (NHD13) fusion gene.     ///    Knock-in of a FLT3/ITD mutation cooperates with a NUP98-HOXD13 fusion to generate acute myeloid leukemia in a mouse model.. '), ('4411', 'TGFB1_CRP', '', 'TGFB1', 'CRP', '10198351', '99', 'liver fibrosis', '', '', '', '', '', '', '', '', 'To determine the in vivo effects of TGF-beta1 on liver fibrogenesis, we generated transgenic mice overexpressing a fusion gene [C-reactive protein (CRP)/TGF-beta1] consisting of the cDNA coding for an activated form of TGF-beta1 under the control of the regulatory elements of the inducible human CRP gene promoter.     ///    The CRP/TGF-beta1 transgenic mouse model may finally serve as a model for the testing of antifibrogenic agents.. '), ('4412', 'BCR_ABL1', '', 'BCR', 'ABL1', '22924699', '99', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'DNA hypermethylation promotes the low expression of pro-apoptotic BCL2L11 associated with BCR-ABL1 fusion gene of chronic myeloid leukaemia.. '), ('4413', 'RUNX1_MYH11', 'inv(16)  / ', 'RUNX1', 'MYH11', '24002588', '99', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'CBFB-MYH11/RUNX1 together with a compendium of hematopoietic regulators, chromatin modifiers and basal transcription factors occupies self-renewal genes in inv(16) acute myeloid leukemia.. '), ('4414', 'JAK2_ETV6', '', 'JAK2', 'ETV6', '10449913', '99', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'We recently reported the involvement of ETV6-JAK2 fusion genes in the development of leukemia of both lymphoid and myeloid origin. '), ('4415', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '19584279', '99', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', ' It seems clear that androgen receptor (AR)-regulated expression of the TMPRSS2:ERG fusion gene plays an early role in prostate cancer (PC) development or progression, but the extent to which TMPRSS2:ERG is down-regulated in response to androgen deprivation therapy (ADT) and whether AR reactivates TMPRSS2:ERG expression in castration-resistant PC (CRPC) have not been determined.     ///    \"To further assess whether TMPRSS2:ERG expression is initially down-regulated in response to ADT, we examined VCaP cells, which express the TMPRSS2:ERG fusion gene, and xenografts. \"    ///    Reactivation of androgen receptor-regulated TMPRSS2:ERG gene expression in castration-resistant prostate cancer..     ///    \"These results show that expression of TMPRSS2:ERG, similarly to other AR-regulated genes, is restored in CRPC and may contribute to tumor progression.. \"    ///    \"We show that ERG message levels in TMPRSS2:ERG fusion-positive CRPC are comparable with the levels in fusion gene-positive primary PC, consistent with the conclusion that the TMPRSS2:ERG expression is reactivated by AR in CRPC. \"'), ('4416', 'STAT6_NAB2', '', 'STAT6', 'NAB2', '25893823', '99', 'cerebellar tumor', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'DNA sequencing revealed two kinds of NAB2-STAT6 fusion genes.     ///    NAB2-STAT6 fusion gene analysis in two cases of meningeal solitary fibrous tumor/hemangiopericytoma with late distant metastases..     ///     We present two cases of meningeal solitary fibrous tumor (SFT)/hemangiopericytoma (HPC) with immunohistochemistry of STAT6 and analysis of NAB2-STAT6 fusion genes.     ///    \"To the best of our knowledge, we are the first to report NAB2-STAT6 fusion gene analysis in primary and metastatic meningeal SFT/HPCs and a case showed different fusion gene status in the metastatic tumor. \"'), ('4417', 'EML4_ALK', '', 'EML4', 'ALK', '21569650', '99', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', '[The EML4-ALK fusion gene in NSCLC and the clinical progress].. '), ('4418', 'BCR_ABL1', '', 'BCR', 'ABL1', '25453399', '99', 'lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Concurrent B-ALL with MPN is uncommon except in the presence of abnormalities of the PDGFRA, PDGFRB, or FGFR1 genes or the BCR-ABL1 fusion gene. '), ('4419', 'MLL_FOXO4', '', 'MLL', 'FOXO4', '22429121', '99', '', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', '', 'Mature B-cell acute lymphoblastic leukaemia associated with a rare MLL-FOXO4 fusion gene.. '), ('4420', 'MLL_AF4', '', 'MLL', 'AF4', '19749093', '99', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Target genes down-regulated by miR-128b include MLL, AF4, and both MLL-AF4 and AF4-MLL fusion genes. '), ('4421', 'PDGFR_FIP1L1', '', 'PDGFR', 'FIP1L1', '18365140', '99', 'leukemia;hypereosinophilic syndrome\r\r', '', 'Kinase', '', '', '', '', '', '', 'Elevated serum levels of soluble interleukin-2 receptor in chronic eosinophilic leukemia/hypereosinophilic syndrome with FIP1L1-PDGFR alpha fusion gene.. '), ('4422', 'IGHV_IL2', '', 'IGHV', 'IL2', '17204185', '99', '', '', '', '', '', '', '', '', '', 'Meanwhile, the gene fragments of IgHV linked with gene of IL-2 were inserted into pcDNA3.0 to form a fusion gene of IgHV-IL-2. '), ('4423', 'FLI_EWS', '', 'FLI', 'EWS', '9103680', '99', 'neuroectodermal tumor;ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Biology of EWS/FLI and related fusion genes in Ewing\'s sarcoma and primitive neuroectodermal tumor.. '), ('4424', 'BCR_ABL1', '', 'BCR', 'ABL1', '19860186', '99', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Nonetheless, many fields of pathogenesis for CML have not been elucidated, such as the mechanisms of blastic crisis, the causes of genetic instability including the inactivation of tumor suppressor genes, and oncogenic signaling pathways downstreams of the BCR-ABL1 fusion gene product.     ///    \" Chronic myeloid leukemia (CML) is a paradigm for neoplasias that are defined by a unique genetic aberration, the BCR-ABL1 fusion gene. \"'), ('4425', 'WDR43_PDGFRB', '', 'WDR43', 'PDGFRB', '22541084', '99', '', '', '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. '), ('4426', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '20523072', '99', 'leukemia;hypereosinophilic syndrome;systemic mastocytosis\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Since the identification of the FIP1L1/PDGFRA fusion gene as a pathogenic cause of the hypereosinophilic syndrome (HES), the importance of the molecular classification of HES leading to the diagnosis of chronic eosinophilic leukemia (CEL) has been recognized. '), ('4427', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23052253', '99', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', ' The TMPRSS2/ERG (T/E) fusion gene is present in half of all prostate cancer tumors. '), ('4428', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '18036706', '99', 'hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Recent advances in molecular biology have led to the identification of a FIP1L1-PDGFRA fusion gene as a recurrent abnormality in some patients with HES.     ///    [Efficacy of imatinib in FIP1L1-PDGFRA positive hypereosinophilic syndrome].. '), ('4429', 'BCR_ABL1', '', 'BCR', 'ABL1', '22285507', '99', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Our results showed that the BCR-ABL1 fusion gene and the mdr1 gene were 6.1 times and 1.7 times, respectively, as high as that of parental SUP-B15 cell line.     ///    \"Altogether, over-expression of BCR-ABL1 and mdr1 gene were involved in the resistance mechanisms, and up-regulation of the cell signaling pathways of PI3K/AKT/mTOR, RAS/RAF in SUP-B15/RI cell line may be correlated with them. \"'), ('4430', 'RET_PTC', '', 'RET', 'PTC', '9001272', '99', 'hashimoto thyroiditis', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Expression of the RET/PTC fusion gene as a marker for papillary carcinoma in Hashimoto\'s thyroiditis..     ///    \"Using a sensitive and specific reverse transcriptase-polymerase chain reaction (RT-PCR) assay, we found messenger RNA (mRNA) expression for the RET/PTC1 and RET/PTC3 oncogenes in 95% of the Hashimoto\'s patients studied. \"    ///    The newly identified oncogenes RET/PTC1 and RET/PTC3 provide useful and specific markers of the early stages of papillary carcinoma as they are highly specific for malignant cells. '), ('4431', 'PDGFR_FIP1L1', '', 'PDGFR', 'FIP1L1', '16027100', '99', 'myelodysplastic syndrome\r\r', '', 'Kinase', '', '', '', '', '', '', 'Specific therapies have also been developed for genetic abnormalities that lead to fusion genes (TEL-PDGFR-beta, or FIP1L1-PDGFR-alpha), or abnormal proteins due to mutations/functional inactivation (FLT3), dysregulated expression (EVI-1). '), ('4432', 'TMPRSS2_ETV1', '', 'TMPRSS2', 'ETV1', '18642766', '99', '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/ERG and TMPRSS2/ETV1 fusion genes may be used as diagnostic tools for PCa..     ///    \"TMPRSS2/ETV1 fusion was detected in only 2 cases (6.3%), including one newly discovered variant fusion transcripts with the GenBank accession number of EU090249. \"    ///    The positive rates of TMPRSS2/ERG and TMPRSS2/ETV1 fusions showed no statistical association with the Gleason grade (P = 0.169). '), ('4433', 'NFIB_MYB', '', 'NFIB', 'MYB', '25968060', '99', 'adenoid cystic carcinoma', '', '', '', '', '', '', 'KB', '', 'Overexpression of Myb related to the MYB-NFIB fusion gene in ACC has also been correlated with perineural invasion and survival. '), ('4434', 'BCR_ABL1', '', 'BCR', 'ABL1', '25427017', '99', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm related to the presence of the BCR-ABL1 fusion gene, linked to t (9;22) (q34;q11). '), ('4435', 'MECOM_AML1', 't(9;22)(q34;q11) / t(3;21)(q26;q22) / ', 'MECOM', 'AML1', '11781838', '99', 'myeloproliferative disorder;leukemia\r\r', '', '', 'Oncogene', '', '', '', '', '', 'The AML1/MDS1/EVI1 (AME) transcription factor fusion protein, is a product of the human t(3;21)(q26;q22) translocation found as a secondary mutation in some cases of CML during the blast phase.     ///    Cooperation of BCR-ABL and AML1/MDS1/EVI1 in blocking myeloid differentiation and rapid induction of an acute myelogenous leukemia.. '), ('4436', 'PCM1_JAK2', '', 'PCM1', 'JAK2', '26202607', '99', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Efficacy of ruxolitinib in myeloid neoplasms with PCM1-JAK2 fusion gene.. '), ('4437', 'PDGFRA_ETV6', '', 'PDGFRA', 'ETV6', '24975316', '99', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Imatinib non-responsive chronic eosinophilic leukemia with ETV6-PDGFRA fusion gene.. '), ('4438', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '16409293', '99', 'hypereosinophilic syndrome\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Multilineage involvement of the fusion gene in patients with FIP1L1/PDGFRA-positive hypereosinophilic syndrome..     ///    \" Myeloproliferative hypereosinophilic syndrome (MHES) is a disorder characterised by male predominance, marked eosinophilia, splenomegaly, tissue fibrosis, elevated serum tryptase and the presence of the FIP1L1/PDGFRA fusion gene in peripheral blood mononuclear cells. \"'), ('4439', 'BCR_ABL1', '', 'BCR', 'ABL1', '19843380', '99', 'erythrocytosis', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation.     ///    Patients with the BCR/ABL1 fusion gene were excluded. '), ('4440', 'TEL_PDGFRB', '', 'TEL', 'PDGFRB', '16027100', '99', 'myelodysplastic syndrome\r\r', '', 'Kinase', '', '', 'Receptor', '', '', '', 'Specific therapies have also been developed for genetic abnormalities that lead to fusion genes (TEL-PDGFR-beta, or FIP1L1-PDGFR-alpha), or abnormal proteins due to mutations/functional inactivation (FLT3), dysregulated expression (EVI-1). '), ('4441', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '24458279', '99', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The FIP1L1-PDGFRA fusion gene and the KIT D816V mutation are coexisting in a small subset of myeloid/lymphoid neoplasms with eosinophilia.. '), ('4442', 'NRG1_CD74', '', 'NRG1', 'CD74', '25121164', '99', 'adenocarcinoma\r\r', '', '', '', '', '', '', '', '', '[CD74-NRG1: a new fusion gene in lung adenocarcinomas characterizing mucinous adenocarcinomas].. '), ('4443', 'RUNX1_ETO', '', 'RUNX1', 'ETO', '19386523', '99', 'leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'We also discuss the effect of RUNX1-ETO fusion gene on DNA methylation. '), ('4444', 'NUP98_HOXD13', '', 'NUP98', 'HOXD13', '18603548', '99', 'myelodysplastic syndrome\r\r', '', '', 'Oncogene', '', '', '', 'KB', 'Seq', ' Expression of a NUP98-HOXD13 (NHD13) fusion gene, initially identified in a patient with myelodysplastic syndrome, leads to a highly penetrant myelodysplastic syndrome in mice that recapitulates all of the key features of the human disease. '), ('4445', 'EML4_ALK', '', 'EML4', 'ALK', '25806349', '99', 'solitary pulmonary nodule', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The patient took a second operation \"the right middle lobe resection\" and was diagnosed as left lung adenocarcinoma at TNM stage IV (pT3N2M1a, two lungs) with neither EGFR mutation nor ALK-EML4 fusion gene. '), ('4446', 'BCR_ABL1', '', 'BCR', 'ABL1', '22506320', '99', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Chronic myeloid leukemia (CML) originates from a hematopoietic stem cell carrying the Philadelphia (Ph) chromosome and oncogenic BCR-ABL1 fusion gene. '), ('4447', 'STAT5B_RARA', '', 'STAT5B', 'RARA', '19624718', '99', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Acute promyelocytic leukemia harboring a STAT5B-RARA fusion gene and a G596V missense mutation in the STAT5B SH2 domain of the STAT5B-RARA.. '), ('4448', 'SYT_SSX', '', 'SYT', 'SSX', '11224869', '99', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The molecular assay of the detection of the SYT/SSX fusion gene is useful to make a definite diagnosis of monophasic synovial sarcoma..     ///    The authors diagnosed the tumor arising within the S1 nerve root as synovial sarcoma using cytogenetic analysis that detected the chimeric SYT/SSX gene. '), ('4449', 'BCR_ABL1', '', 'BCR', 'ABL1', '27132280', '99', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In 1973, Janet Rowley, unraveled the cytogenetic anatomy of the Philadelphia chromosome, which subsequently led to the identification of the BCR-ABL1 fusion gene and its principal pathogenetic role in the development of chronic myeloid leukemia. '), ('4450', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '26520622', '99', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Further, for the first time we demonstrate differential histone H4 acetylation in molecular subclasses of BCP-ALL including cases with ETV6-RUNX1 fusion gene or PAX5 deletion or deletions in genes linked to B cell development.     ///    Preserved global histone H4 acetylation linked to ETV6-RUNX1 fusion and PAX5 deletions is associated with favorable outcome in pediatric B-cell progenitor acute lymphoblastic leukemia.. '), ('4451', 'PAX3_FOXO1', '', 'PAX3', 'FOXO1', '23032620', '99', 'rhabdomyosarcoma;sarcoma\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'Questionable universal validity of PAX3/FOXO1 fusion gene status as molecular marker for improvement of risk stratification in rhabdomyosarcoma therapy.. '), ('4452', 'ARF2_ARF1', '', 'ARF2', 'ARF1', '2123295', '99', '', '', '', '', '', '', '', '', '', 'Among revertants of the fluoride sensitivity of an arf1 null mutation were ARF1-ARF2 fusion genes created by a gene conversion event in which the deleted ARF1 sequences were repaired by recombination with ARF2.. '), ('4453', 'EML4_ALK', '', 'EML4', 'ALK', '22980554', '99', 'lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' EML4-ALK fusion gene, is found in 3 to 5 % of lung adenocarcinoma and can be targeted by tyrosine-kinase inhibitor (TKI) with impressive therapeutic results. '), ('4454', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '9036972', '99', '', '', '', '', '', '', '', '', '', 'The AML1/ETO fusion protein, generated by the t(8;21) translocation, repressed IL-3 promoter activity, although the AML1 portion of AML1/ETO (amino acids 1-177) lacked transcriptional regulatory activity and did not bind to DNA in vitro. '), ('4455', 'RUNX1T1_RUNX1', 't(8;21)  / ', 'RUNX1T1', 'RUNX1', '20075157', '99', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'We observed that both GFI1 variants maintain the same activity as transcriptional repressors but differ in their regulation by the AML1/ETO (RUNX1/RUNX1T1) fusion protein produced in AML patients with a t(8;21) translocation.     ///    \"As a consequence, AML1/ETO does not colocalize with GFI1(36N) and is unable to inhibit its repressor activity. \"    ///    AML1/ETO interacts and colocalizes with the more common GFI1(36S) form in the nucleus and inhibits its repressor activity. '), ('4456', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '16418325', '99', 'leukemia;hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The FIP1L1-PDGFRA fusion gene cooperates with IL-5 to induce murine hypereosinophilic syndrome (HES)/chronic eosinophilic leukemia (CEL)-like disease.. '), ('4457', 'BCR_ABL1', '', 'BCR', 'ABL1', '21883966', '99', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Disease-specific genetic markers, such as the BCR-ABL1 fusion gene in chronic myeloid leukaemia, enable sensitive molecular genetic methods to be applied for the detection and quantification of low-level residual disease, allowing early identification of relapse. '), ('4458', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '17261495', '99', 'bone marrow fibrosis', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In addition, the FIP1L1-PDGFRA fusion gene was detected only in these 2 cases.     ///    Clinical features of hypereosinophilic syndrome: FIP1L1-PDGFRA fusion gene-positive disease is a distinct clinical entity with myeloproliferative features and a poor response to corticosteroid..     ///    One of the FIP1L1-PDGFRA - positive HES cases featured bone marrow fibrosis.     ///    \"Taken together, our data and previous reports suggest that FIP1L1-PDGFRA - positive HES is a distinct clinical entity with myeloproliferative features and showing a poor response to corticosteroid treatment.. \"'), ('4459', 'FUS_DDIT3', '', 'FUS', 'DDIT3', '25393000', '99', 'liposarcoma;sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', ' 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.     ///    Transfection experiments showed that the FUS-DDIT3 fusion protein had no effects on irradiation induced TP53 responses. '), ('4460', 'TEL_AML1', '', 'TEL', 'AML1', '12538342', '99', 'Bloom syndrome;paroxysmal nocturnal hemoglobinuria', '', '', '', '', '', '', '', '', 'conversely, fusion genes, TEL-AML1/AML1-ETO, typical of leukemia, are 100 times more frequent at birth than in overt leukemia in children, indicating that further selective events are needed to cause malignancy. '), ('4461', 'RARA_NPM', '', 'RARA', 'NPM', '22573339', '99', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'Acute promyelocytic leukemia following aleukemic leukemia cutis harboring NPM/RARA fusion gene.. '), ('4462', 'EML4_ALK', '', 'EML4', 'ALK', '22563229', '99', 'leukemia;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Detection of EML4-ALK and other ALK fusion genes in lung cancer: a lesson from the leukemia fusion gene analysis and future application.. '), ('4463', 'RARA_PML', '', 'RARA', 'PML', '24088603', '99', '', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'As an initial application of this system, the PML/RARA fusion gene sequence formed from promyelocytic leukemia (PML) and retinoic acid receptor alpha (RARA) was successfully detected. '), ('4464', 'MLLT1_MLL', '', 'MLLT1', 'MLL', '20701602', '99', '', '', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'Significantly, parthenolide also increased HDACI-mediated cell death in haematopoietic cells transduced with the MLL-MLLT1 fusion gene, which exhibit certain leukaemia-initiating cell characteristics, as well as primary AML blasts. '), ('4465', 'SYT_SSX', '', 'SYT', 'SSX', '17609629', '99', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Molecular confirmation of the SYT-SSX fusion gene was critical in reaching an accurate diagnosis. '), ('4466', 'BCR_ABL1', '', 'BCR', 'ABL1', '25332542', '99', 'myeloproliferative disorder;myelodysplastic syndrome;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Chronic neutrophilic leukemia (CNL) is a rare chronic myeloproliferative disorder characterized by splenomegaly, sustained neutrophilic leukocytosis, raised serum vitamin B12 level and absence of the Philadelphia chromosome and BCR/ABL1 fusion gene. '), ('4467', 'TEL_AML1', 't(12;21)  / t(1;19)  / t(4;11) / t(4;11)  / ', 'TEL', 'AML1', '15749681', '99', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Samples from 42 children with ALL in Kerala were tested by reverse transcription polymerase chain reaction for TEL/AML1, t(1;19) and t(4;11).     ///     t(12;21) (TEL/AML1) is the most common genetic event in childhood B-cell acute lymphoblastic leukemia (B-ALL) in Western countries.     ///    \"Only 2 out of 42 (4.8%) cases were positive for the TEL/AML1, and t(1;19) and t(4;11) were not detected. \"    ///    We conclude that the incidence of TEL/AML1 is lower in the Indian population.. '), ('4468', 'PAX7_FKHR', '', 'PAX7', 'FKHR', '20405298', '99', 'rhabdomyosarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The aim of the study was to monitor minimal disseminated disease (MDD) using real-time quantitative reverse-transcription PCR (RQ-RT-PCR) of the PAX3-FKHR, PAX7-FKHR fusion genes and myoD1 gene.     ///    \"We prepared an assay using RQ-RT-PCR for a quantitative assessment of MDD in aRMS by using hydrolysis probe for quantification of PAX3-FKHR, PAX7-FKHR and myoD1 genes and beta-2-microglobulin housekeeping gene. \"    ///    We analyzed PAX3-FKHR or PAX7-FKHR expression during the course of the disease. '), ('4469', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '20405298', '99', 'rhabdomyosarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The aim of the study was to monitor minimal disseminated disease (MDD) using real-time quantitative reverse-transcription PCR (RQ-RT-PCR) of the PAX3-FKHR, PAX7-FKHR fusion genes and myoD1 gene.     ///    We analyzed PAX3-FKHR or PAX7-FKHR expression during the course of the disease.     ///    \"We prepared an assay using RQ-RT-PCR for a quantitative assessment of MDD in aRMS by using hydrolysis probe for quantification of PAX3-FKHR, PAX7-FKHR and myoD1 genes and beta-2-microglobulin housekeeping gene. \"'), ('4470', 'EML4_ALK', '', 'EML4', 'ALK', '22104224', '99', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'However, cases of patients harbored concomitant EML4-ALK fusion gene and EGFR mutation have been reported continuously at recent.     ///    [Research progress in non-small cell lung cancer with concomitant EML4-ALK fusion gene and EGFR gene mutation]..     ///    \"This review aims to summarize the incidence and molecular structure of EML4-ALK fusion gene and EGFR mutation, as well as clinical features of patients with the concomitant genes induced NSCLC.. \"    ///    \"Molecular target therapy is one of the most popular and promising field of NSCLC treatment, and its hotspots includes EGFR (epidermal growth factor receptor), EML4-ALK (echinoderm microtubule associated protein like4-anaplastic lymphoma kinase), etc. \"    ///    Former researches indicated that EML4-ALK fusion and EGFR mutation were excluded mutually. '), ('4471', 'SETD1B_GTF2H3', '', 'SETD1B', 'GTF2H3', '24382738', '99', 'polycythemia vera', '', 'Kinase', '', '', '', 'Transcription_Factor', '', '', 'Complex karyotype in a polycythemia vera patient with a novel SETD1B/GTF2H3 fusion gene.. '), ('4472', 'MN1_ETV6', '', 'MN1', 'ETV6', '21600651', '99', '', '', '', '', '', '', '', 'KB', '', 'MN1-ETV6 fusion gene arising from MDS with 5q-.. '), ('4473', 'RUNX1_MTG8', 't(8;21)  / ', 'RUNX1', 'MTG8', '18553224', '99', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' To examine the prognostic significance of minimal residual disease (MRD) in t(8;21) acute myeloid leukemia (AML), 96 bone marrow samples from 26 Japanese patients in complete remission (CR) were analyzed regarding the RUNX1/MTG8 transcript using real-time reverse transcriptase polymerase chain reaction assay.     ///    \"The median copy number of the RUNX1/MTG8 transcript, measured after each treatment course decreased over time. \"'), ('4474', 'HBD_HBB', '', 'HBD', 'HBB', '24814285', '99', 'thalassemia\r\r', '', '', '', '', '', '', '', '', 'In the latter case, there are good reasons to expect differences in retention rates for the reciprocal HBB/HBD and HBD/HBB fusion genes due to thalassemia pathologies associated with the HBD/HBB \"Lepore\" deletion mutant in humans.     ///    \"In cases where an independently derived \"\"anti-Lepore\"\" duplication mutant has become fixed, the parental HBD and/or HBB genes have typically been inactivated or deleted, so that the newly created HBB/HBD fusion gene is primarily responsible for synthesizing the ?-type subunits of adult and fetal hemoglobin (Hb). \"    ///    \"Here, we report a comparative genomic analysis of the mammalian ?-globin gene cluster, which revealed that chimeric HBB/HBD fusion genes originated independently in four separate lineages of laurasiatherian mammals: Eulipotyphlans (shrews, moles, and hedgehogs), carnivores, microchiropteran bats, and cetaceans. \"'), ('4475', 'RARA_PML', '', 'RARA', 'PML', '16645213', '99', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', ' 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). '), ('4476', 'MYC_ER', '', 'MYC', 'ER', '12584560', '99', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Using an inducible c-MYC-ER fusion gene, we show that elevated c-MYC expression leads to an increased HGPRT mutation rate of Rat1 cells and an increase in the number of frameshift mutants at the HGPRT locus. '), ('4477', 'BCR_ABL1', '', 'BCR', 'ABL1', '24697132', '99', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Increasing frequency of diagnostic BCR-ABL1 fusion gene testing: causes and concerns.. '), ('4478', 'BCR_ABL1', '', 'BCR', 'ABL1', '16645213', '99', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' 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). '), ('4479', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '21281241', '99', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Concomitant FIP1L1-PDGFRA fusion gene and T-cell clonality in a case of chronic eosinophilic leukemia with clonal evolution and an incomplete response to imatinib.. '), ('4480', 'IGH_BCL2', '', 'IGH', 'BCL2', '19212334', '99', 'follicular lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In situ localization of follicular lymphoma: evidence for subclinical systemic disease with detection of an identical BCL-2/IGH fusion gene in blood and lymph node.. '), ('4481', 'NFIB_MYB', '', 'NFIB', 'MYB', '23398044', '99', 'adenoid cystic carcinoma', '', '', '', '', '', '', 'KB', '', ' The majority of adenoid cystic carcinomas (AdCCs), regardless of anatomical site, harbour the MYB-NFIB fusion gene. '), ('4482', 'MLL_AF4', 't(4;11)(q21;q23) / ', 'MLL', 'AF4', '26329759', '99', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Furthermore, HDAC class I inhibitors inhibited the ectopic effects caused by AF4-MLL on transcriptional elongation, suggesting that HDAC class I inhibitors are potential therapeutics for the treatment of t(4;11)(q21;q23) leukemia.     ///    \"AF4 and AF4-MLL mediate transcriptional elongation of 5-lipoxygenase mRNA by 1, 25-dihydroxyvitamin D3.. \"    ///    \"Here, we investigated the influence of MLL (activator of transcript initiation), AF4 (activator of transcriptional elongation) as well as of the leukemogenic fusion proteins MLL-AF4 (ectopic activator of transcript initiation) and AF4-MLL (ectopic activator of transcriptional elongation) on calcitriol/TGF?-dependent 5-LO transcript elongation. \"    ///    Activation of transcript elongation was strongly enhanced by the AF4-MLL fusion protein but was sensitive to Flavopiridol. '), ('4483', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '17544504', '99', 'hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Patients with primary hypereosinophilic disorders who are positive for the FIP1L1-PDGFRA fusion gene mutation are highly responsive to therapy with imatinib mesylate.     ///    Maintenance therapy with imatinib appears necessary despite molecular remission in FIP1L1-PDGFRA fusion gene positive hypereosinophilic disorder..     ///    \"A 35-year-old man with FIP1L1-PDGFRA positive hypereosinophilic syndrome and cardiac involvement, was treated with imatinib 100 mg daily. \"    ///    Our experience and a review of limited literature suggest that imatinib maintenance therapy is necessary despite molecular remission of the FIP1L1-PDGFRA mutation.. '), ('4484', 'ETO_AML1', '', 'ETO', 'AML1', '22575192', '99', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Nevertheless, nearly no changes could be observed on the expression level of AML1-ETO fusion gene and caspase-8 protein.     ///    It seemed that all these effects had no relationship with the AML1-ETO fusion gene..     ///    \"The expression levels of bcl-2, Bim and Caspase-3/-8/-9 protein were assayed by Western blot and the AML1-ETO fusion gene was detected by real-time polymerase chain reaction. \"'), ('4485', 'WWTR1_CAMTA1', '', 'WWTR1', 'CAMTA1', '26050962', '99', 'sarcoma', '', '', '', '', '', 'Transcription_Factor', '', '', 'Instead, WWTR1-CAMTA1 and YAP1-TFE3 fusion genes are found in almost all cases of epithelioid haemangioendothelioma. '), ('4486', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '22976839', '99', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Logistic regression was used to evaluate the association of polymorphisms with cases and controls, with age and somatic fusion genes (MLL-r and ETV6-RUNX1) as covariables. '), ('4487', 'PAX3_FOXO1', '', 'PAX3', 'FOXO1', '26544916', '99', 'rhabdomyosarcoma;sarcoma\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'GLI1 expression correlated with presence of the PAX3-FOXO1 fusion gene (P=0.040) and lymph node metastasis (P=0.034), and a significant association was found between GLI1 expression and overall survival (OS) (P=0.008). '), ('4488', 'MYH11_CBFB', '', 'MYH11', 'CBFB', '19466970', '99', '', '', '', '', '', '', '', '', '', 'Acute myeloid leukaemia with associated eosinophilia: justification for FIP1L1-PDGFRA screening in cases lacking the CBFB-MYH11 fusion gene.. '), ('4489', 'JAK2_BCR', '', 'JAK2', 'BCR', '23432689', '99', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'A BCR-JAK2 fusion gene from ins(22;9)(q11;p13p24) in a patient with atypical chronic myeloid leukemia.. '), ('4490', 'EML4_ALK', '', 'EML4', 'ALK', '25360721', '99', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Clinicopathologic features of patients with non-small cell lung cancer harboring the EML4-ALK fusion gene: a meta-analysis..     ///    \"A significant lower EML4-ALK fusion gene positive rate was associated with smokers (pooled OR?=?0.40, 95% CI?=?0.30-0.54, P<0.00001). \"    ///    \"The frequency of the EML4-ALK fusion gene and the clinicopathologic features, including smoking status, pathologic type, gender, and EGFR status were abstracted. \"    ///    This meta-analysis was conducted to compare the frequency of the EML4-ALK fusion gene in patients with different clinicopathologic features and to identify an enriched population of patients with NSCLC harboring EML4-ALK fusion gene.     ///    The Pubmed and Embase databases for all studies on EML4-ALK fusion gene in NSCLC patients were searched up to July 2014.     ///    The key demographic and pathologic features associated with EML4-ALK fusion gene have not been definitively established.     ///     The frequencies of EML4-ALK fusion gene in non-small cell lung cancer (NSCLC) with different clinicopathologic features described by previous studies are inconsistent.     ///    \"We found that a significantly lower EML4-ALK fusion gene positivity rate was associated with EGFR mutation (pooled OR?=?0.07, 95% CI?=?0.03-0.19, P<0.00001). \"    ///    \"This meta-analysis revealed that the EML4-ALK fusion gene is highly correlated with a never/light smoking history, female and the pathologic type of adenocarcinoma, and is largely mutually exclusive of EGFR.. \"    ///    \"A significantly higher EML4-ALK fusion gene positivity rate was associated with adenocarcinomas (pooled OR?=?2.53, 95% CI?=?1.66-3.86, P<0.0001) and female (pooled OR?=?0.61, 95% CI?=?0.41-0.90, P?=?0.01). \"'), ('4491', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '25948797', '99', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Many other biomarkers based on the expression of specific genes of PCa are being studied and validated, for instance the fusion gene TMPRSS2-ERG with a commercial kit available, while another approach is to test the expression of a panel of genes. '), ('4492', 'MYH11_CBFB', 'inv(16)  / ', 'MYH11', 'CBFB', '24002588', '99', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'CBFB-MYH11/RUNX1 together with a compendium of hematopoietic regulators, chromatin modifiers and basal transcription factors occupies self-renewal genes in inv(16) acute myeloid leukemia.. '), ('4493', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '23662039', '99', 'leukemia;hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Recently, the fusion gene FIP1L1/PDGFRA was found in the long arm of chromosome 4 and its expression has been shown to be associated with development of a clinical hypereosinophilic syndrome (HES) in a significant proportion of patients.     ///    \"FIP1L1/PDGFR?, the product of the gene FIP1L1/PDGFRA, is a constitutively activated tyrosine kinase and can be inhibited by imatinib mesylate. \"'), ('4494', 'BCR_ABL1', '', 'BCR', 'ABL1', '20558931', '99', 'acute kidney injury', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Chronic myelogenous leukemia (CML) is a myeloproliferative disease that originates in abnormal pluripotent bone marrow stem cells and it is consistently associated with the Philadelphia chromosome and/or BCR/ ABL fusion gene. '), ('4495', 'STAT5B_RARA', '', 'STAT5B', 'RARA', '23271512', '99', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'All-trans retinoic acid and arsenic trioxide resistance of acute promyelocytic leukemia with the variant STAT5B-RARA fusion gene.. '), ('4496', 'RARA_PLZF', 't(11;17)(q23;q21) / ', 'RARA', 'PLZF', '21949697', '99', '', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', ' The PLZF/RARA fusion protein generated by the t(11;17)(q23;q21) translocation in acute promyelocytic leukaemia (APL) is believed to act as an oncogenic transcriptional regulator recruiting epigenetic factors to genes important for its transforming potential.     ///    We identify 413 specific PLZF/RARA target genes including a number encoding transcription factors involved in the regulation of haematopoiesis.     ///    \"By comparing bound regions found in U937 cells expressing endogenous PLZF with PLZF/RARA-induced U937 cells, we isolated specific PLZF/RARA target gene promoters. \"    ///    We next analysed gene expression profiles of our identified target genes in PLZF/RARA APL patients and analysed DNA sequences and epigenetic modification at PLZF/RARA binding sites.     ///    \"However, molecular mechanisms associated with PLZF/RARA-dependent leukaemogenesis still remain unclear.We searched for specific PLZF/RARA target genes by ChIP-on-chip in the haematopoietic cell line U937 conditionally expressing PLZF/RARA. \"    ///    \"In addition, repressed PLZF/RARA target genes were associated with increased levels of H3K27me3 and decreased levels of H3K9K14ac. \"    ///    Our study suggests that PLZF/RARA directly targets genes important for haematopoietic development and supports the notion that PLZF/RARA acts mainly as an epigenetic regulator of its direct target genes..     ///    \"Among these genes, 22 were significantly down regulated in primary PLZF/RARA APL cells. \"    ///    Characterisation of genome-wide PLZF/RARA target genes..     ///    \"Finally, sequence analysis of PLZF/RARA bound sequences reveals the presence of both consensus and degenerated RAREs as well as enrichment for tissue-specific transcription factor motifs, highlighting the complexity of targeting fusion protein to chromatin. \"'), ('4497', 'ETO_AML1', 't(8;21) / inv(16) / inv(16)  / t(8;21)  / ', 'ETO', 'AML1', '25449688', '99', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Higher White blood cell (WBC) count, WBC index, and AML1-ETO transcript levels in adult t(8;21) patients were significantly associated with c-KIT mutations and mutations in exon 17 (P?0.030). '), ('4498', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '25906745', '99', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'We investigated the molecular relationship between TMPRSS2-ERG (T2E) fusion gene and insulin-like growth factor receptor (IGF-1R) to optimize the use of IGF-1R inhibitors.IGF-1R was analyzed in cell lines and in radical prostatectomy specimens in relation to T2E status. '), ('4499', 'BCR_ABL1', '', 'BCR', 'ABL1', '10526530', '99', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In situ hybridization studies with BCR- and ABL-specific probes showed location of the BCR/ABL fusion gene on chromosome 9, band q34, instead of at chromosome 22q11, and that it resulted from an insertion of the 5\' side of BCR within the ABL gene on chromosome 9. '), ('4500', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '26017288', '99', 'systemic mastocytosis\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We therefore investigated 426 samples from patients with hypereosinophilia of unknown significance initially referred for screening of the FIP1L1-PDGFRA (FP) fusion gene also for KIT D816V and JAK2 V617F mutations. '), ('4501', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '15854548', '99', 'hypereosinophilic syndrome\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Upregulation of JAK2, STAT3, and P-STAT5 proteins was shown in 3 FIP1L1-PDGFRA fusion gene positive HES patients, while all of these proteins were not expressed in one case of FIP1L1-PDGFRA negative HES.     ///    \"Retrospective reverse transcription polymerase chain reaction (RT-PCR) analysis of FIP1L1-PDGFRA was performed and the expressions of JAK2, STAT3 and P-STAT5 were detected by western blotting before treatment and 10, 30, and 60 days after the beginning of treatment. \"    ///    \"observe the dynamic change of the clinical phenotype and hematological response, the expression of janaus kinase/signal transducer and activator of transcription (JAK/STAT) protein or FIP1L1-PDGFRA mRNA in one HES patient treated with low-dose imatinib. \"    ///    The amount of FIP1L1-PDGFRA transcripts in peripheral blood granulocytes was significantly decreased in 30 days after therapy and turned negative 60 days after therapy.     ///    \"The granulocytes of peripheral blood of 4 HES patients, including 3 FIP1L1-PDGFRA positive cases and 1 negative case, were collected. \"    ///    \"Low-dose imatinib, that induces complete hematological and molecular genetic remission, exerts significant effects on FIP1L1-PDGFRA positive HES.. \"'), ('4502', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '19890351', '99', 'dermatofibrosarcoma protuberans;sarcoma\r\r', '', '', 'Oncogene', '', '', '', 'KB', '', 'No correlation between the molecular subtype of COL1A1-PDGFB fusion gene and the clinico-histopathological features of dermatofibrosarcoma protuberans.. '), ('4503', 'RUNX1_CBFA2T1', 't(8;21) / ', 'RUNX1', 'CBFA2T1', '15723339', '98', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'MYND-less splice variants of AML1-MTG8 (RUNX1-CBFA2T1) are expressed in leukemia with t(8;21).. '), ('4504', 'ETO_AML1', 't(8;21) / t(8;21)(q22;q22) / ', 'ETO', 'AML1', '19334541', '98', 'leukemia\r\r', '', '', '', '', '', '', '', '', ' A complete diagnostic procedure was developed that allows single molecules of mRNA AML1-ETO to be detected in samples of whole blood and bone marrow of the leukemia t(8;21)(q22;q22) patients. '), ('4505', 'TLS_CHOP', '', 'TLS', 'CHOP', '18091394', '98', 'liposarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Myxoid liposarcoma with cartilaginous differentiation: identification of the same type II TLS-CHOP fusion gene transcript in both lipogenic and chondroid components..     ///    \"By reverse transcription-polymerase chain reaction, the identical type II TLS-CHOP fusion gene transcripts were detected in both the liposarcomatous and microdissected chondroid tumor cells. \"'), ('4506', 'TEL_MN1', 'p13;q11 / ', 'TEL', 'MN1', '16105979', '98', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', '22)(p13;q11) in human myeloid leukemia generates an MN1-TEL (meningioma 1-translocation-ETS-leukemia) fusion oncoprotein.     ///    \"Coexpression of MN1-TEL and IL-3, but not SCF, rapidly caused a fatal myeloproliferative disease rather than acute myeloid leukemia (AML). \"    ///    Conditional MN1-TEL knock-in mice develop acute myeloid leukemia in conjunction with overexpression of HOXA9..     ///    Enforced expression of MN1-TEL in multipotent hematopoietic progenitors in knock-in mice perturbed growth and differentiation of myeloid as well as lymphoid cells.     ///    \"Because MN1-TEL+ AML patient cells overexpress HOXA9 (homeobox A9), we tested the effect of coexpression of MN1-TEL and HOXA9 in mice and found that 90% of MN1-TEL+/HOXA9+ mice developed AML much more rapidly than control HOXA9+ mice. \"    ///    Here we addressed the role of MN1-TEL in myeloid leukemogenesis using the same mouse model.     ///    \"Thus, the leukemogenic effect of MN1-TEL in our knock-in mice is pleiotropic, and the type of secondary mutation determines disease outcome.. \"'), ('4507', 'TLS_CHOP', '', 'TLS', 'CHOP', '15167010', '98', 'liposarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Molecular analysis revealed that type 1 TLS/ CHOP fusion gene transcript, characteristic of myxoid/round cell liposarcoma, was detected in both areas..     ///    Myxoid liposarcoma with adipocytic maturation: detection of TLS/CHOP fusion gene transcript.. '), ('4508', 'SSX1_SS18', '', 'SSX1', 'SS18', '19041192', '98', 'synovial sarcoma;osteosarcoma;sarcoma\r\r', '', '', '', '', '', '', 'KB', '', 'However, an SS18-SSX1 fusion gene transcript was detected by reverse transcription-polymerase chain reaction, supporting the diagnosis of biphasic synovial sarcoma. '), ('4509', 'ETO_AML1', '', 'ETO', 'AML1', '12472578', '98', '', '', '', '', '', '', '', '', '', 'In one of them, the fusion gene AML1/ETO, reported to cause transcription repression of CEBPA, was also present, suggesting that more than one mechanism might collaborate to suppress CEBPA gene expression. '), ('4510', 'EWS_CHN', '', 'EWS', 'CHN', '11981607', '98', 'chondrosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The diagnosis was confirmed by molecular detection of a characteristic EWS-CHN/TEC fusion gene transcript. '), ('4511', 'ETO _AML1', 't(8;21)  / ', 'ETO ', 'AML1', '10906759', '98', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'This finding increases our understanding of the mechanisms by which the AML1/ETO protein may contribute to modified gene expression linked to the onset and progression of t(8;21) related acute myelogenous leukemia..     ///    Leukemia-associated AML1/ETO (8;21) chromosomal translocation protein increases the cellular representation of PML bodies.. '), ('4512', 'ETO_AML1', '', 'ETO', 'AML1', '17980910', '98', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Gene expression analysis showed decreased transcription of the AML1-ETO fusion gene and increased transcription of p16 (INK4A), p21 (WAF1) and C/EBPalpha genes. '), ('4513', 'RARA_PLZF', 't(11;17) / t(11;17)  / ', 'RARA', 'PLZF', '11964310', '98', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'Interactions of GATA-2 with the promyelocytic leukemia zinc finger (PLZF) protein, its homologue FAZF, and the t(11;17)-generated PLZF-retinoic acid receptor alpha oncoprotein.. '), ('4514', 'ETO_AML1', 't(8;21)  / t(8;21) / ', 'ETO', 'AML1', '9579874', '98', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'To examine whether the t(8;21)-positive AMLs expressed a 94-kDa AML1-ETO, protein fractions isolated from leukemia blasts of 10 patients with t(8;21)-positive AML and the Kasumi-1 cells were analyzed by Western blotting.     ///    \"Thus, t(8;21)-positive AMLs appear to overexpress the AML1-ETO fusion protein, which may be responsible for differentiation block and leukemogenesis in AML.. \"    ///    Characterization of the ETO and AML1-ETO proteins involved in 8;21 translocation in acute myelogenous leukemia..     ///    We found that AML1-ETO blocked the erythroid differentiation of K562 cells induced by low doses of Ara-C.     ///    \"Western blot analysis showed that ETO and AML1-ETO were identified as 70 kDa and 94 kDa proteins, respectively, and that both proteins, like AML1, were associated with the nuclear matrix. \"    ///    \"The biological significance of AML1-ETO was examined in K562 cells, which stably overexpress AML1-ETO. \"    ///    \"To understand the role of ETO and AML1-ETO in the pathogenesis of AML, the full length cDNAs of ETO and AML1-ETO were cloned and antibodies against AML1 and ETO proteins have been developed in our laboratory. \"    ///    The 94 kDa AML1-ETO fusion protein was detected in all samples. '), ('4515', 'NPM_ALK', 't(2;5)  / t(2;5) / ', 'NPM', 'ALK', '16982741', '98', 'anaplastic large cell lymphoma;T cell lymphoma;non Hodgkin lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In this study, we used the RNA interference method to modulate NPM-ALK protein expression in ALCL-derived, t(2;5)-positive Karpas 299 cells.     ///    We observed decreased CD30 expression when NPM-ALK was repressed.     ///    \"Because aberrant CD30 expression was also observed in the T-cell lymphoma derived from lineage-specific NPM-ALK transgenic mice, we tested the hypothesis that there might be a functional relationship between the two neoplastic-related proteins: NPM-ALK and CD30. \"    ///    \"Combination of NPM-ALK repression and CD30 ligand leads to significantly increased tumor cell growth inhibition compared with one method alone, suggesting its potential application for ALCL-specific cancer treatment.. \"'), ('4516', 'LPP_HMGA2', '', 'LPP', 'HMGA2', '16567472', '98', '', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Intrapatellar tendon lipoma with chondro-osseous differentiation: detection of HMGA2-LPP fusion gene transcript..     ///    \"Molecular analysis showed that the identical HMGA2-LPP fusion transcript-characteristic of lipoma, parosteal lipoma, and pulmonary chondroid hamartoma-was detectable in the both components.. \"'), ('4517', 'TEL_AML1', '', 'TEL', 'AML1', '17889709', '98', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' A series of 92 Chinese children newly diagnosed with acute lymphoblastic leukemia (ALL) were examined for the ETV6-RUNX1 (previously TEL-AML1) fusion gene by using a nested reverse transcriptase-polymerase chain reaction.     ///    Prevalence of ETV6-RUNX1 fusion gene in children with acute lymphoblastic leukemia in China..     ///    \"ETV6-RUNX1 fusion transcripts were detected in 21 of 92 patients (22.8%): 16 with common ALL, 4 with precursor B-cell ALL, and 1 with T-ALL. \"    ///    The prevalence of ETV6-RUNX1 in Chinese pediatric ALL patients proved to be similar to that found in other countries..     ///    The prevalence of ETV6-RUNX1 positivity was 24.7% (20/81) in childhood B-lineage ALL. '), ('4518', 'GLI1_ACTB', 't(7;12)  / t(7;12)(p22;q13) / t(7;12) / ', 'GLI1', 'ACTB', '22575261', '98', 'bone cancer\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', '', 'Pericytoma with t(7;12) and ACTB-GLI1 fusion arising in bone..     ///    Subsequent molecular studies confirmed the presence of an associated ACTB-GLI1 fusion transcript. '), ('4519', 'TEC_CHN', '', 'TEC', 'CHN', '11981607', '98', 'chondrosarcoma;sarcoma\r\r', '', 'Kinase', '', '', '', '', '', '', 'The diagnosis was confirmed by molecular detection of a characteristic EWS-CHN/TEC fusion gene transcript. '), ('4520', 'SYT_SSX1', '', 'SYT', 'SSX1', '20155347', '98', 'synovial sarcoma;lung cancer;sarcoma\r\r', '', '', '', '', '', '', '', '', 'When the prepared RNA from the tumor was subjected to a polymerase chain reaction, SYT-SSX1 fusion gene transcripts were demonstrated.     ///    Patients with the SYT-SSX1 fusion gene have a worse clinical outcome than patients with SYT-SSX2-positive tumors. '), ('4521', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '19036704', '98', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'More recently, we have identified an alternatively spliced form of AML1-ETO, AML1-ETO9a, from t(8;21) acute myeloid leukemia (AML) patient samples.     ///    \" The 8;21 translocation, which involves the gene encoding the RUNX family DNA-binding transcription factor AML1 (RUNX1) on chromosome 21 and the ETO (MTG8) gene on chromosome 8, generates AML1-ETO fusion proteins. \"    ///    Previous analyses have demonstrated that full-length AML1-ETO blocks AML1 function and requires additional mutagenic events to promote leukemia.     ///    \"Here, we report that the AML1 DNA-binding domain and the ETO NHR2-dimerization domain, but not the ETO NHR1 domain, are critical for the induction of AML by AML1-ETO9a. \"    ///    RUNX1/AML1 DNA-binding domain and ETO/MTG8 NHR2-dimerization domain are critical to AML1-ETO9a leukemogenesis..     ///    AML1-ETO9a lacks the C-terminal NHR3 and NHR4 domains of AML1-ETO and is highly leukemogenic in the mouse model. '), ('4522', 'RARA_NPM1', '', 'RARA', 'NPM1', '26420438', '98', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'Erratum to: A new transcriptional variant and small azurophilic granules in an acute promyelocytic leukemia case with NPM1/RARA fusion gene.. '), ('4523', 'USP9Y_TTTY15', '', 'USP9Y', 'TTTY15', '25188740', '98', 'prostate cancer\r\r', 'PCR', '', '', '', '', '', '', '', 'We attempted to confirm one of the fusion genes, USP9Y-TTTY15, by reverse transcription PCR, but detected the presence of the USP9Y-TTTY15 fusion transcript in cancer samples, nonmalignant prostate tissues, and normal tissues from other organs, demonstrating that it is a transcription-induced chimeric RNA, which is commonly produced in normal tissues.     ///    \"USP9Y-TTTY15 expression is neither higher in cancer than adjacent normal tissues, nor correlated with features of advanced prostate cancer. \"    ///    \"In 105 prostate cancer samples and case-matched adjacent nonmalignant tissues, we determined the expression level of USP9Y-TTTY15 and a previously reported transcription-induced chimeric RNA, SLC45A3-ELK4. \"'), ('4524', 'POU5F1_EWS', 't(6;22)(p21;q12) / t(6;22)  / ', 'POU5F1', 'EWS', '20203285', '98', 'sarcoma\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Knockdown of EWS-POU5F1 in the t(6;22) sarcoma-derived GBS6 cell line resulted in a significant decrease of cell proliferation because of G1 cell cycle arrest associated with p27(Kip1) up-regulation.     ///    \"In contrast, EWS-POU5F1 down-regulation markedly increased the cell migration and invasion as well as activation of metalloproteinase 2 and metalloproteinase 14. \"    ///    Function of EWS-POU5F1 in sarcomagenesis and tumor cell maintenance..     ///    \"To clarify the roles of the EWS-POU5F1 chimera in tumorigenesis and tumor cell maintenance, we used small-interfering RNA-mediated gene silencing. \"    ///    \"In addition, the EWS-POU5F1 chimeras have been recently identified in human neoplasms of the skin and salivary glands. \"'), ('4525', 'RARA_PML', 't(15;17) / t(15;17)  / ', 'RARA', 'PML', '10938104', '98', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Potentiation of GATA-2 activity through interactions with the promyelocytic leukemia protein (PML) and the t(15;17)-generated PML-retinoic acid receptor alpha oncoprotein.. '), ('4526', 'MLL_AF10', 't(10;11)(p12;q23) / p12;q23q13 / ', 'MLL', 'AF10', '11187895', '98', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The MLL-AF10 fusion produced by the t(10;11)(p12;q23) or ins(10;11)(p12;q23q13) occurs in a small percentage of acute leukemias, most commonly acute myelogenous leukemia (AML) of the M5 FAB subtype.     ///    \"Each case had varied clinical characteristics, despite expressing similar MLL-AF10 fusion transcripts. \"    ///    \"Including the three cases described in this report, we identified a total of 38 cases of leukemia with MLL-AF10 fusion. \"    ///    We report two cases of AML (M5a and M0) and one case of acute lymphoblastic leukemia containing MLL-AF10 fusion.     ///    Protean clinical manifestations in children with leukemias containing MLL-AF10 fusion.. '), ('4527', 'ETO_AML1', 't(8;21) / ', 'ETO', 'AML1', '15492262', '98', 'myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'Among 160 cytogenetically/molecularly characterized AMLs, PAX5 was selectively detected in 15 of 42 cases bearing the t(8;21)/AML1-ETO rearrangement. '), ('4528', 'FLI_EWS', '', 'FLI', 'EWS', '19036597', '98', '', '', '', '', '', '', '', '', '', 'EWS/FLI-1 fusion gene transcripts were detected by the reverse-transcription polymerase-chain reaction. '), ('4529', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '12086889', '98', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Expression of a conditional AML1-ETO oncogene bypasses embryonic lethality and establishes a murine model of human t(8;21) acute myeloid leukemia..     ///    \"To bypass the embryonic lethality, we generated a mouse strain with a conditional AML1-ETO knockin allele that contains a loxP bracketed transcriptional stop cassette 5\' to the AML1-ETO fusion site. \"    ///    \"Paradoxically, expression of the acute myeloid leukemia-associated AML1-ETO fusion protein in mice results not in leukemia, but in embryonic lethality due to an absence of normal hematopoiesis. \"'), ('4530', 'ETO_AML1', 't(8;21)  / t(8;21)(q22;q22) / ', 'ETO', 'AML1', '24314118', '98', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'AML1-ETO triggers epigenetic activation of early growth response gene l, inducing apoptosis in t(8;21) acute myeloid leukemia..     ///    \"However, AML1-ETO could not recruit DNA methyltransferases and histone deacetylases. \"    ///    \"Our results show that the AML1-ETO fusion protein triggered activation of early growth response gene l (EGR1) by binding at AML1-binding sites on the EGR1 promoter and, subsequently, recruiting acetyltransferase P300, which is known to acetylate histones. \"'), ('4531', 'EPC1_ASXL2', '10p11.2 / t(2;10) / 2p23.3 / del(10)(p11.2) / del(10)(q22q24) / ', 'EPC1', 'ASXL2', '19484761', '98', 'T cell leukemia', '', '', '', '', '', '', '', '', 'In the case of the SO4 cell line, which carried a der(10)t(2;10)(p23;p11.2) translocation, EPC1 was fused with the additional sex combs-like 2 (ASXL2) gene at 2p23.3 (EPC1/ASXL2).     ///    \"Overexpression of EPC1/ASXL2 enhanced cell growth in T-leukemia cells, and a GAL4-EPC1/ASXL2 fusion protein showed high transcriptional activity. \"'), ('4532', 'SYT_SSX', '', 'SYT', 'SSX', '16813111', '98', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'SYT-SSX fusion gene transcripts were detected, so we diagnosed the tumor as a synovial sarcoma in the pleural cavity. '), ('4533', 'TEL_AML1', 't(12;21)  / t(12;21) / ', 'TEL', 'AML1', '15325275', '98', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'All these data indicate that TEL/AML1 exerts dominant-interfering effects on both AML1 and TEL, and that expression of TEL/AML1 could result in inactivation of TEL\'s tumor suppressive functions in t(12;21)-carrying leukemia..     ///     The TEL/AML1 chimeric gene is generated by the t(12;21) translocation in pre-B cell acute lymphoblastic leukemia.     ///    TEL/AML1 neither bound to the ETS-binding consensus site nor repressed transcription through it.     ///    Dominant-negative effects of TEL/AML1 over wild-type-AML1 are believed to trigger the development of this type of leukemia.     ///    \"TEL/AML1 consists of the helix-loop-helix (HLH) dimerization domain from TEL and almost the entire of AML1, but loses the ETS DNA-binding domain from TEL. \"    ///    TEL/AML1 shows dominant-negative effects over TEL as well as AML1..     ///    \"To test this possibility, we first confirmed that TEL/AML1 associates with wild-type-TEL. \"    ///    \"However, it could also be possible that TEL/AML1 affects wild-type-TEL\'s molecular and tumor suppressive functions through the HLH domain. \"    ///    \"Moreover, TEL/AML1 concomitantly inhibited wild-type-TEL-induced growth suppression and wild-type-AML1-mediated transforming activity in NIH3T3 cells. \"');
INSERT INTO `ChimerPub_dump` VALUES ('4534', 'RARA_PLZF', 't(15;17)  / t(11;17) / ', 'RARA', 'PLZF', '9070655', '98', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'Although PLZF-RAR alpha and PML-RAR alpha are similar in their apparent dominant negative effects, t(11;17)-associated APL is refractory to ATRA therapy.     ///    Our data support the hypothesis that RAR alpha-PLZF chimera is not an inert product of reciprocal translocation and may thus contribute to ATRA unresponsiveness of t(11;17)-associated APL..     ///    The RAR alpha-PLZF chimera associated with Acute Promyelocytic Leukemia has retained a sequence-specific DNA-binding domain..     ///    \"Using these autonomously transactivating hybrids, similar in structure to the RAR alpha-PLZF fusion, we mapped the DNA-binding domain of PLZF to the last five Zinc-fingers, a region retained in RAR alpha-PLZF chimera and characterized a specific PLZF target sequence. \"'), ('4535', 'Immunoglobulin _MYC', 't(8;14)(q24;q32) / ', 'Immunoglobulin ', 'MYC', '15914362', '98', 'B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The chromosomes showed t(8;14)(q24;q32) with c-myc/immunoglobulin (Ig)H rearrangement, and the MIB-1 index was not high (60%). '), ('4536', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '15109542', '98', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Repression of AML1-responsive hematopoietic genes by AML1-ETO and the N-CoR complex may play a mechanistic role in t(8;21) leukemogenesis. '), ('4537', 'ETV6_ARG', 't(1;12) / ', 'ETV6', 'ARG', '12821941', '98', 'acute myeloid leukemia', '', '', '', '', '', '', '', '', 'In this study, we investigated the growth-inhibitory effect of STI571 (signal transduction inhibitor number 571) on ETV6/ARG-expressing cells and its molecular mechanisms using HT93A, a cell line derived from a patient with AML-M3 carrying t(1;12).     ///    \"STI571 effectively suppressed overall tyrosyl phosphorylation of intracellular proteins including ETV6/ARG fusion protein, as well as the growth of HT93A cells with an IC(50) of 200 nM. \"'), ('4538', 'ETO_AML1', '', 'ETO', 'AML1', '18078132', '98', 'leukemia\r\r', '', '', '', '', '', '', '', '', ' To observe the effects of AML1-ETO fusion gene on the transcription activity of p21WAF1/CIP1 gene.     ///    \"AML1-ETO exhibits more inhibition activity of p21WAF1/CIP1 gene promoter than AML1b and AMLla, results from recruiting transcription co-repression complex efficiently by ETO. \"    ///    [Effects of AML1-ETO on transcription activity of p21WAF1/CIP1 gene promoter]..     ///    \"The luciferase reporter plasmids of p21WAF1/CIP1 gene promoter were constructed, and co-transfected into CV-1 cells with AML1-ETO, AML1b and AML1a expression plasmids. \"    ///    AML1-ETO exhibited a distinct inhibition activity of p21WAF1/CIP1 gene promoter with a sequence-specificity and dosage-dependent manner.     ///    And to explore the enhancement of leukemia pathogenesis of AML1-ETO.     ///    \"Based on previous researches, the effects of exogenous AML1-ETO on p21WAF1/CIP1 gene promote may be dependent on the type of cell lines.. \"'), ('4539', 'IGH_BCL2', 't(14;18)  / ', 'IGH', 'BCL2', '9573034', '98', 'lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The Ig heavy chain 3\' end confers a posttranscriptional processing advantage to Bcl-2-IgH fusion RNA in t(14;18) lymphoma.. '), ('4540', 'ETO_AML1', 't(8;21)  / t(8;21) / ', 'ETO', 'AML1', '12819347', '98', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Here, we show that targeting of AML1-ETO to essential, MYB-dependent gene promoters induces t(8;21)-restricted cell death.     ///    Transcriptional repression of AML1-dependent genes by AML1-ETO and associated corepressors represents the pathogenetic mechanisms of t(8;21).     ///    This protein associated with AML1-ETO and directed the complex to MYB-responsive promoters in vitro and in vivo.     ///    \"This translocation produces the AML1-ETO fusion protein, which binds to AML1 target promoter sequences. \"    ///    \"In the presence of AML1-ETO, the chimeric protein repressed the activity of MYB-responsive promoters, rapidly induced apoptosis, and specifically inhibited colony growth. \"'), ('4541', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '17137731', '98', 'leukemia;hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We screened seven Tunisian patients fulfilling the WHO criteria of HES for the presence of the FIP1L1-PDGFRA fusion gene using nested reverse transcription polymerase chain reaction on peripheral blood samples.     ///    Detection of the FIP1L1-PDGFRA fusion gene or the corresponding cryptic 4q12 deletion in HES supports the diagnosis of chronic eosinophilic leukemia (CEL) and provides a molecular explanation for the pathogenesis of this disorder.     ///    FIP1L1-PDGFRA positive chronic eosinophilic leukemia in Tunisian patients..     ///    Splenomegaly was constant in FIP1L1-PDGFRA positive CEL but not in the other HES patients (only 1/3).. '), ('4542', 'MSV_CAT', '', 'MSV', 'CAT', '3028641', '98', '', '', '', '', '', '', '', '', '', 'We show that lac repressor produced in mouse L cells by transfection of a lacl expression vector blocks transcription of an MSV-CAT fusion gene when the lac operator is inserted at any one of the following sites within the promoter region: between the initiation codon (ATG) and the transcription start site. '), ('4543', 'TRP1_IFN', '', 'TRP1', 'IFN', '3540610', '98', '', '', '', '', '', '', '', '', '', 'We also showed that the UASPGK functions as efficiently when in the inverted orientation and that it can enhance transcription when placed upstream of a TRP1-IFN fusion gene comprising the promoter of TRP1 fused to the coding region of human interferon alpha-2.. '), ('4544', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '8943060', '98', 'myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The elevated levels of BCL-2 in cells that express AML1/ETO may prolong their life span and contribute to the development of t(8;21) leukemia..     ///    \"In t(8;21) acute myelogenous leukemia (AML), the AML1 gene is juxtaposed to the ETO gene located on chromosome 8, generating an AML1/ETO fusion protein. \"    ///    \"however, we found that AML1/ETO activates transcription of the BCL-2 gene in U937 cells. \"    ///    \"Thus far, AML1/ETO has been shown to dominantly repress its target genes. \"    ///    We demonstrated sequence specific binding of both AML1A and AML1/ETO to the TGTGGT sequence in the BCL-2 promoter and showed that the AML1 binding site is required for responsiveness to AML1/ETO.     ///    \"Both AML1/ETO and the AML1 proteins recognize the same consensus DNA-binding motif (TGT/CGGT), which is found in the promoters of several genes involved in hematopoiesis. \"    ///    This activation requires the presence of both the runt homology domain (rhd) and the C-terminal portion of AML1/ETO.     ///    The AML1/ETO fusion protein activates transcription of BCL-2.. '), ('4545', 'RUNX1T1_RUNX1', 't(8;21) / ', 'RUNX1T1', 'RUNX1', '21488857', '98', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'These results were confirmed and extended by demonstrating downregulation of the LAT2 protein in response to conditional RUNX1/RUNX1T1 expression, and its absence in primary AML with the t(8;21).     ///    \"We previously identified the LAT2 gene, encoding the adaptor molecule LAT2 (NTAL, LAB), which is phosphorylated by KIT and has a role in mast cell and B-cell activation, as a target of the repressor activity of RUNX1/RUNX1T1. \"    ///    \"Regulation of the adaptor molecule LAT2, an in vivo target gene of AML1/ETO (RUNX1/RUNX1T1), during myeloid differentiation.. \"    ///    \" The leukaemia-specific fusion oncoprotein RUNX1/RUNX1T1 (AML1/ETO), resulting from the chromosomal translocation (8;21) in acute myeloid leukaemia (AML), imposes a striking genotype-phenotype relationship upon this distinct subtype of AML, which is mediated by multiple, co-ordinate downstream effects induced by this chimeric transcription factor. \"'), ('4546', 'RUNX1_MTG8', 't(8;21)(q22;q22) / t(8;21)  / ', 'RUNX1', 'MTG8', '15735013', '98', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'These results suggest a novel mechanism for gene silencing mediated by RUNX1/MTG8 and support the combination of HDAC and DNMT inhibitors as a novel therapeutic approach for t(8;21) AML..     ///    \" The translocation t(8;21)(q22;q22) in acute myeloid leukemia (AML) results in the expression of the fusion protein RUNX1/MTG8, which in turn recruits histone deacetylases (HDAC) to silence RUNX1 target genes [e.g., interleukin-3 (IL-3)]. \"    ///    \"Thus, we hypothesized that DNMT1 is also part of the transcriptional repressor complex recruited by RUNX1/MTG8. \"    ///    \"We previously reported that expression of the RUNX1/MTG8 target gene IL-3 is synergistically restored by the combination of inhibitors of HDACs (i.e., depsipeptide) and DNA methyltransferases (DNMT. \"    ///    The physical association of RUNX1/MTG8 with DNMT1 was shown by coimmunoprecipitation experiments.     ///    \"i.e., decitabine) in RUNX1/MTG8-positive Kasumi-1 cells. \"    ///    \"Furthermore, RUNX1/MTG8 and DNMT1 were concurrently released from the IL-3 promoter by exposure to depsipeptide or stabilized on the promoter by decitabine treatment. \"    ///    \"By a chromatin immunoprecipitation assay, we identified a RUNX1/MTG8-DNMT1 complex on the IL-3 promoter in Kasumi-1 cells and in primary RUNX1/MTG8-positive AML blasts. \"    ///    \"Finally, we proved that RUNX1/MTG8 and DNMT1 were functionally interrelated by showing an enhanced repression of IL-3 after coexpression in 293T cells. \"    ///    Interplay of RUNX1/MTG8 and DNA methyltransferase 1 in acute myeloid leukemia.. '), ('4547', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '19581587', '98', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Remarkably, calpain inhibition triggered AML1-ETO degradation and impaired the clonogenic potential of the human t(8;21) leukemic blood cell line Kasumi-1.     ///    \"AML1-ETO, the product of this translocation, fuses the N-terminal portion of the RUNX transcription factor AML1 (also known as RUNX1), including its DNA-binding domain, to the almost entire transcriptional corepressor ETO (also known as MTG8 or RUNX1T1). \"    ///    \"Reminiscent of what is observed in AML, AML1-ETO specifically inhibited the differentiation of the blood cell lineage whose development depends on the RUNX factor Lozenge (LZ) and induced increased numbers of LZ(+) progenitors. \"    ///    \"This fusion protein acts primarily by interfering with endogenous AML1 function during myeloid differentiation, although relatively few genes are known that participate with AML1-ETO during leukemia progression. \"    ///    A Drosophila model identifies calpains as modulators of the human leukemogenic fusion protein AML1-ETO.. '), ('4548', 'HDC_CAT', '', 'HDC', 'CAT', '7853145', '98', 'mastocytoma', '', '', '', '', '', '', '', '', 'With mastocytoma cells transiently transfected with 5\' deletion constructs of HDC-CAT fusion gene, it was found that the sequences from -132 to -53 and -267 to -53 are essential for the regulatory elements involved in the increased transcription of the HDC gene with dexamethasone+TPA and cAMP+Ca2+, respectively. '), ('4549', 'SLC43A3_NUP160', '', 'SLC43A3', 'NUP160', '26527604', '98', 'angiosarcoma', '', '', '', '', '', '', '', '', 'In this study, we investigated this issue by transcriptome sequencing of patient-derived angiosarcoma cells (ISO-HAS), identifying a novel fusion gene NUP160-SLC43A3 found to be expressed in 9 of 25 human angiosarcoma specimens that were examined.     ///    NUP160-SLC43A3 is a novel recurrent fusion oncogene in angiosarcoma.. '), ('4550', 'TLS_CHOP', '', 'TLS', 'CHOP', '11684725', '98', 'mesenchymoma', '', '', '', '', '', '', '', '', 'The SYT-SSX, TLS-CHOP, and EWS-FLI1 fusion genes were not detected using the reverse transcription polymerase chain reaction. '), ('4551', 'SYT_SSX', '', 'SYT', 'SSX', '16946567', '98', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Molecular detection of SYT-SSX fusion gene transcripts currently represents the most specific and sensitive tool for diagnosing intrathoracic synovial sarcoma.. '), ('4552', 'ETO_AML1', 't(8;21)  / t(8;21) / ', 'ETO', 'AML1', '15489901', '98', 'Nervous System Diseases', '', '', '', '', '', '', '', '', 'One gene downregulated by AML1/ETO in vitro, Williams Beuren syndrome critical region 5 (WBSCR5), was expressed in primary t(8;21)-negative AML blasts but not in primary t(8;21)-positive AML blasts, strongly implying a role of this gene in the phenotype of t(8;21)-positive AML.     ///    \" The chromosomal translocation t(8;21) fuses the AML1 (RUNX1) gene on chromosome 21 and the ETO gene on chromosome 8 in human acute myeloid leukemias (AMLs), resulting in expression of the chimeric transcription factor AML1/ETO. \"    ///    We used an ecdysone-inducible expression system in the human monoblastic U-937 cell line to isolate genes that were differentially expressed upon induction of AML1/ETO expression.     ///    \"By representational difference analysis (cDNA-RDA), we identified 26 genes whose expression levels were significantly modulated following AML1/ETO induction for 48 h. \"    ///    AML1/ETO-associated dysregulation of gene expression was not mediated by a TSA-sensitive mechanism.     ///    Williams-Beuren syndrome critical region-5/non-T-cell activation linker: a novel target gene of AML1/ETO..     ///    \"None of these genes has previously been described as a target of AML1, ETO or AML1/ETO. \"    ///    AML1/ETO-mediated dysregulation of target genes critical for hematopoietic differentiation and proliferation is thought to contribute to the leukemic phenotype.     ///    \"Three out of eight genes including WBSCR5 were regulated during ATRA-induced monocytic differentiation of U-937 cells, however, none of them antagonistically, upon both ATRA treatment and AML1/ETO induction. \"    ///    The identified genes provide a useful model to study the mechanism by which the AML1/ETO fusion protein exerts its function in transcriptional dysregulation in AML. '), ('4553', 'SYT_SSX', '', 'SYT', 'SSX', '11684725', '98', 'mesenchymoma', '', '', '', '', '', '', '', '', 'The SYT-SSX, TLS-CHOP, and EWS-FLI1 fusion genes were not detected using the reverse transcription polymerase chain reaction. '), ('4554', 'ETO_AML1', 't(8;21)  / t(8;21) / ', 'ETO', 'AML1', '11032826', '98', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Using confocal microscopy, we demonstrated that AML1, and ETO and/or AML1/ETO, colocalize with Smads in the nucleus of t(8;21)-positive Kasumi-1 cells, in the presence but not the absence of TGF-beta1.     ///    \" The t(8;21) translocation, found in adult acute myelogenous leukemia, results in the formation of an AML1/ETO chimeric transcription factor. \"    ///    \"AML1/ETO expression leads to alterations in hematopoietic progenitor cell differentiation, although its role in leukemic transformation is not clear. \"    ///    \"Considering the critical role of TGF-beta1 in the growth and differentiation of hematopoietic cells, interference with TGF-beta1 signaling by AML1/ETO may contribute to leukemogenesis.. \"    ///    We have demonstrated the physical association of Smad proteins with AML1 and AML1/ETO by immunoprecipitation and have mapped the region of interaction to the runt homology domain in these AML1 proteins.     ///    \"Using transient transfection assays and a reporter gene construct that contains both Smad and AML1 consensus binding sequences, we demonstrated that overexpression of AML1B cooperates with TGF-beta1 in stimulating reporter gene activity, whereas AML1/ETO represses basal promoter activity and blocks the response to TGF-beta1. \"    ///    \"The N-terminal portion of AML1, which is retained in AML1/ETO, contains a region of homology to the FAST proteins, which cooperate with Smads to regulate transforming growth factor beta1 (TGF-beta1) target genes. \"    ///    Inhibition of the transforming growth factor beta 1 signaling pathway by the AML1/ETO leukemia-associated fusion protein.. '), ('4555', 'RUNX1_ETO', 't(8;21) / ', 'RUNX1', 'ETO', '17332359', '98', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Targeting the oligomerization domain of ETO interferes with RUNX1/ETO oncogenic activity in t(8;21)-positive leukemic cells..     ///    \" About 12% of all de novo acute myeloid leukemias are characterized by the translocation t(8;21), which generates the oncogenic fusion protein RUNX1/ETO. \"    ///    \"Here, we show that the expression of a fusion peptide consisting of 128 amino acids (NC128), including the entire NHR2 domain of ETO, disrupts the stability of the RUNX1/ETO high molecular weight complexes, restores transcription of RUNX1/ETO target genes, and reverts the differentiation block induced by RUNX1/ETO in myeloid cells. \"    ///    \"RUNX1/ETO has a modular structure and contains several docking sites for heterologous proteins, including transcriptional co-repressors like N-CoR, SMART, and mSIN3A. \"    ///    \"RUNX1/ETO is found in high molecular weight complexes, which are crucial for the block in myeloid differentiation observed in RUNX1/ETO-transformed cells. \"    ///    \"In the presence of NC128, RUNX1/ETO-transformed cells lose their progenitor cell characteristics, are arrested in cell cycle progression, and undergo cell death. \"    ///    Our results indicate that selective interference with the oligomerization domain of ETO could provide a promising strategy to inhibit the oncogenic properties of the leukemia-associated fusion protein RUNX1/ETO.. '), ('4556', 'SYT_SSX2', '', 'SYT', 'SSX2', '22007079', '98', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Synovial sarcoma of the tongue confirmed by molecular detection of the SYT-SSX2 fusion gene transcript.. '), ('4557', 'MALT1_API2', '', 'MALT1', 'API2', '26181449', '98', 'MALT lymphoma;B cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'An API2-MALT1 fusion gene was detected in the gastric lesion. '), ('4558', 'TEL_AML1', '', 'TEL', 'AML1', '12719399', '98', '', '', '', '', '', '', '', '', '', 'Total RNA was extracted from the blood and the expression of the fusion genes TEL-AML1, MLL-AF4, and BCR-ABL, characteristic of three subtypes of childhood leukaemia, was investigated in the preterm and full term infant samples using a nested reverse transcriptase polymerase chain reaction method.     ///    TEL-AML1 transcripts were detected in cord blood samples from two full term infants. '), ('4559', 'RARA_PLZF', 't(15;17)  / t(11;17) / t(11;17)  / t(15;17) / ', 'RARA', 'PLZF', '11696577', '98', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'In cells from PLZF-RAR alpha/RAR alpha-PLZF transgenic mice and cells harboring t(15;17), HDACIs induced apoptosis and dramatic growth inhibition, effects that could be potentiated by RA.     ///    \"The PML-RAR alpha and PLZF-RAR alpha fusion oncoproteins function as aberrant transcriptional repressors, in part by recruiting nuclear receptor-transcriptional corepressors and histone deacetylases (HDACs). \"'), ('4560', 'EML4_ALK', '', 'EML4', 'ALK', '23936355', '98', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' EML4-ALK fusion gene is found in only a small subset (2-6%) of non-small cell lung cancer. '), ('4561', 'ETO_AML1', '', 'ETO', 'AML1', '20193599', '98', '', '', '', '', '', '', '', '', '', ' To investigate the effects of AML1B and AML1/ETO fusion gene on the transcription activity of TSC1 and TSC2 promotor and to explore its role in leukemogenesis.     ///    AML1B and AML1/ETO can regulate the transcription of TSC genes..     ///    \"AML1/ETO showed a significant transactivity to TSC1, but no transactivity to TSC2\'s. \"    ///    [The effects of AML1B and AML1/ETO on the transactivation of TSC genes.]..     ///    \"However, AML1/ETO antagonized the effect of AMLlB to TSC2 gene promoter. \"    ///    \"The luciferase reporter plasmids of TSCs gene promoter containing a AML1 binding site were constructed, and cotransfected into CV-1 cells with AML1B or AML1/ETO expression plasmids separately. \"'), ('4562', 'E2A_CIZ', 't(12;22)(p13;q12) / t(12;17)(p13;q11) / t(12;19)(p13;p13) / ', 'E2A', 'CIZ', '15669012', '98', '', '', '', '', '', '', '', '', '', 'In addition, a new fusion E2A-CIZ was recently cloned as a result of a t(12;19)(p13;p13) in a patient with acute lymphoblastic leukaemia.     ///    Luciferase experiments indeed showed that E2A-CIZ as well as VP16-CIZ transactivates the MMP7 promoter.     ///    \"We show here that E2A-CIZ also transforms 3T3 fibroblasts, suggesting that the addition of a transactivation domain to the CIZ protein is involved in this phenotype. \"'), ('4563', 'SYT_SSX', '', 'SYT', 'SSX', '15793062', '98', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Within the last decade thoracic localizations of synovial sarcoma are an emerging histopathological entity thanks to the molecular analysis of the SYT-SSX fusion gene transcript.. '), ('4564', 'MEL1_EL1', 't(1;3)(p36;q21) / 1p36.3 / t(15;17) / t(8;21) / inv(16) / ', 'MEL1', 'EL1', '14585371', '98', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', '', '', '', '', '', '', '', '', 'However, all the patients with favorable-risk karyotypes, i.e., with t(15;17), t(8;21), or inv(16), showed low MEL1/EL1 expression levels.     ///    Expression analysis of MEL1/EL1 compared with MDS1-EVI1/EVI1 in distinct normal marrow or blood cell fractions revealed that 1) all four gene products are expressed in CD34(+) progenitor cell fractions.     ///    Our data suggest that simultaneous low MEL1/EL1 expression in AML is abnormal and that favorable disease is highly associated with this abnormal phenotype..     ///    Variable MEL1/EL1 expression levels were observed. '), ('4565', 'PGK2_CAT', '', 'PGK2', 'CAT', '2813402', '98', '', '', 'Kinase', '', '', '', '', '', '', 'Translation of both PGK2/CAT and PGK2/luciferase fusion genes was seen concurrently with the first detectable transcripts.. '), ('4566', 'SYT_SSX', '', 'SYT', 'SSX', '21747606', '98', 'synovial sarcoma;renal cell carcinoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Reverse transcriptase-polymerase chain reaction analysis to demonstrate SYT-SSX fusion gene transcript helps to confirm the diagnosis.. '), ('4567', 'PAX3_FKHR', 't(2;13)  / t(1;13)  / ', 'PAX3', 'FKHR', '8917562', '97', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'These data suggest that the PAX3/FKHR fusion gene and wild-type PAX genes play a causative role in the formation of RMS and presumably other tumor types, possibly by suppressing the apoptotic program that would normally eliminate these cells.. '), ('4568', 'TLS_CHOP', '', 'TLS', 'CHOP', '20332486', '97', 'liposarcoma;ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', '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.     ///    \"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. \"    ///    \"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. \"    ///    \"HMGA2-LPP and LPP-HMGA2 were specific to lipoma, and TLS-CHOP and EWS-CHOP were specific to liposarcoma.. \"'), ('4569', 'ETV6_ARG', '', 'ETV6', 'ARG', '12080468', '97', 'leukemia\r\r', '', '', '', '', '', '', '', '', ' ETV6/ARG, a novel fusion gene composed of the ETV6 HLH oligomerization domain and most of sequences of the ARG protein tyrosine, was recently identified in human leukemia cells.     ///    Analysis of four different types of ETV6/ARG transcripts previously identified in the AML-M3 leukemia cell line HT93A suggest that ETV6 HLH domain is required for oncogenic activity.     ///    \"However, the transforming activity of the ETV6/ARG protein has not been determined and its contribution to leukemogenesis is therefore unknown. \"    ///    Here we address this question by analysing the oncogenic activity of ETV6/ARG in hematopoietic and fibroblast cells.     ///    Based upon these results it is concluded that ARG can be activated as an oncogene in human malignancy and that the ETV6/ARG oncoprotein triggers some of the same signaling pathways associated with activated ABL oncogenes..     ///    \"It is also shown that multiple signaling molecules, including PI3K, SHC, ras-GAP and CRK-L, are tyrosine phosphorylated in Ba/F3 cells that express ETV6/ARG. \"    ///    Transformation of Ba/F3 cells and Rat-1 cells by ETV6/ARG..     ///    It is demonstrated that expression of ETV6/ARG confers IL3-independent growth to Ba/F3 cells and anchorage independent growth to Rat-1 fibroblasts.     ///    The presence of the ETV6/ARG translocation raises the possibility that the resulting fusion protein functions as an oncogene. '), ('4570', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '18788888', '97', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Furthermore, the in vitro results are supportive of a role for the PAX3/FKHR fusion gene in the inhibition of IGF2 expression..     ///    Stable introduction of PAX3/FKHR into an ERMS cell line also demonstrated a significant reduction in IGF2 expression. '), ('4571', 'BIRC3_MALT1', 't(11;18)(q21;q21) / ', 'BIRC3', 'MALT1', '10760689', '97', 'MALT lymphoma;B cell lymphoma;lymphoma;lymphoproliferative disorder\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'pylori) infection has not yet been comprehensively analyzed, especially in relation to the recently identified c-IAP2-MALT1 / MLT gene alteration resulting from the t(11;18)(q21;q21) chromosomal translocation found in MALT lymphoma.     ///    Polypoid lesions in MALT-C were associated with c-IAP2-MALT1 / MLT gene alteration resulting from t(11;18)(q21;q21). '), ('4572', 'MALT1_API2', '', 'MALT1', 'API2', '18307876', '97', 'MALT lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Reverse transcription-polymerase chain reaction was used to detect the presence of API2-MALT1 fusion gene transcripts.     ///    \"In the 6 cases of MALT lymphoma with high-grade transformation, nuclear and cytoplasmic expression of bcl-10 was demonstrated in 1 case, while API2-MALT1 fusion gene was present in 2 cases. \"'), ('4573', 'EML4_ALK', 'inv(2)(p21p23) / ', 'EML4', 'ALK', '19032370', '97', 'prostate cancer;non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Non-solid oncogenes in solid tumors: EML4-ALK fusion genes in lung cancer..     ///    \"In the present review I summarize how detection of EML4-ALK cDNA may become a sensitive diagnostic means for NSCLC cases that are positive for the fusion gene, and discuss whether suppression of ALK enzymatic activity could be an effective treatment strategy against this intractable disorder.. \"    ///    \"Break and fusion points within the EML4 locus may diverge in NSCLC cells to generate various isoforms of EML4-ALK, which may constitute approximately 5% of NSCLC cases, at least in the Asian ethnic group. \"    ///    \"EML4-ALK oligomerizes constitutively in cells through the coiled coil domain within the EML4 region, and becomes activated to exert a marked oncogenicity both in vitro and in vivo. \"'), ('4574', 'TFE3_ASPL', 'p11.2;q25 / ', 'TFE3', 'ASPL', '19539846', '97', 'alveolar soft part sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The molecular study identified a type 2 alveolar soft part locus-transcription factor E3 (ASPL-TFE3) fusion, secondary to der(17)t(X;17)(p11.2;q25) translocation. '), ('4575', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '9823299', '97', 'rhabdomyosarcoma;leukemia;sarcoma\r\r', '', '', '', '', '', '', '', '', 'We have used cDNA microarrays containing 1238 cDNAs to investigate the gene expression profile of a group of seven alveolar rhabdomyosarcoma (ARMS) cell lines characterized by the presence of the PAX3-FKHR fusion gene.     ///    Among these 37 were genes related to both primary (PAX3-FKHR) and secondary (CDK4) genetic alterations in ARMS. '), ('4576', 'EWS_CHOP', '', 'EWS', 'CHOP', '20332486', '97', 'liposarcoma;ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', '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.     ///    \"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. \"    ///    \"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. \"    ///    \"HMGA2-LPP and LPP-HMGA2 were specific to lipoma, and TLS-CHOP and EWS-CHOP were specific to liposarcoma.. \"'), ('4577', 'TEL_AML1', '', 'TEL', 'AML1', '10453181', '97', 'lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'There were two patients who had DNA abnormalities in both 9p and 12p, one with common acute lymphoblastic leukemia (ALL) showed 9p LOH and the TEL/AML1 fusion gene on 12p and the other with common ALL and 12p RER had diminished expression of both the p27(KIP1) gene on 12p and the p16 gene on 9p.     ///    \"Furthermore, expression of the TEL, TEL/AML1 and p27(KIP1) genes on 12p and the p16 gene on 9p were detected by reverse transcriptase polymerase chain reaction. \"'), ('4578', 'NOR1_EWS', '', 'NOR1', 'EWS', '18680143', '97', 'chondrosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Differential transactivation by orphan nuclear receptor NOR1 and its fusion gene product EWS/NOR1: possible involvement of poly(ADP-ribose) polymerase I, PARP-1..     ///    and that EWS/NOR1 may acquire oncogenic activities by avoiding (or gaining) transcription factor-specific modulation by the associated proteins..     ///    \"To clarify the mechanisms underlying the transcriptional divergence between NOR1 and EWS/NOR1, we searched for alternatively associated proteins, and identified poly(ADP-ribose) polymerase I (PARP-1) as an NOR1-specific binding protein. \"    ///    \"Consistent with its binding properties, PARP-1 acted as a transcriptional repressor of NOR1, but not EWS/NOR1, in a luciferase reporter assay employing PARP-1(-/-) fibroblasts. \"    ///    \"In addition, the proteins associated with NOR1 and EWS/NOR1 were mostly the same in these cells. \"    ///    \"Altogether, our findings suggest that NOR1 and EWS/NOR1 regulate overlapping target genes differently by utilizing associated proteins, including PARP-1. \"    ///    \"By comparing the gene expression profiles of NOR1- and EWS/NOR1-overexpressing cells, we found that they largely shared up-regulated genes, but no significant correlation was observed with respect to the transactivation levels of each gene. \"    ///    The resulting fusion protein EWS/NOR1 has been believed to lead to malignant transformation by functioning as a transactivator for NOR1-target genes. '), ('4579', 'NPM_ALK', 't(2;5)(p23;q35) / t(2;5)  / ', 'NPM', 'ALK', '14576483', '97', 'anaplastic large cell lymphoma;B cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' Anaplastic large cell lymphomas are associated with the t(2;5)(p23;q35) chromosome translocation in 40% to 60% of cases, leading to a new chimeric gene NPM-ALK.     ///    NPM-ALK positive lymphomas are generally reported to be of either T cell or null phenotype. '), ('4580', 'MLL_GPHN', 't(11;14)(q23;q24) / ', 'MLL', 'GPHN', '11579461', '97', 'leukemia\r\r', '', '', '', '', '', '', 'KB', '', 'The resulting MLL-GPHN fusion gene encodes MLL AT hook motifs and a DNA methyltransferase homology domain fused to the C-terminal half of Gephyrin, including a presumed tubulin binding site and a domain homologous to the Escherichia coli molybdenum cofactor biosynthesis protein MoeA.     ///    \"This suggests that MLL-GPHN may have been generated by VP 16/topoisomerase-II-induced DNA double-strand breaks, followed by error-prone DNA repair via non-homologous end joining. \"'), ('4581', 'PSEN1_LATS1', '', 'PSEN1', 'LATS1', '25902174', '97', 'neurofibroma', '', 'Kinase', '', '', '', '', '', '', 'The LATS1-PSEN1 fusion gene product lacked the ability to phosphorylate yes-associated protein and to suppress the growth of a MM cell line. '), ('4582', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '18989374', '97', 'thyroid carcinoma;thyloid cancer\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The PAX8/PPARgamma fusion gene appears to be an oncogene.     ///    The recent discovery of the PAX8/PPARgamma translocation in follicular thyroid carcinoma has promoted progress in the role of PPARgamma as a tumor suppressor and potential therapeutic target.     ///    The Role of the PAX8/PPARgamma Fusion Oncogene in Thyroid Cancer.. '), ('4583', 'PAX3_FOXO1', '', 'PAX3', 'FOXO1', '24787670', '97', 'rhabdomyosarcoma;sarcoma\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'FANCD2 is a potential therapeutic target and biomarker in alveolar rhabdomyosarcoma harboring the PAX3-FOXO1 fusion gene..     ///    \"In the second patient set, we show that on a protein level, FANCD2 expression correlates with PAX3-FOXO1 fusion gene and is strongly associated with phospho-P70S6K expression in cases with the fusion gene. \"    ///     Alveolar rhabdomyosarcoma that harbors the PAX3-FOXO1 fusion gene (t-ARMS) is a common and lethal subtype of this childhood malignancy. '), ('4584', 'MLL_AF4', '', 'MLL', 'AF4', '26856288', '97', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Frequency and clinical impact of ETV6/RUNX1, AF4-MLL, and BCR/ABL fusion genes on features of acute lymphoblastic leukemia at presentation..     ///    \"Three major translocations (ETV6-RUNX1, BCR-ABL, and AF4-MLL) in acute lymphoblastic leukemia (ALL) have been shown to affect treatment outcome. \"'), ('4585', 'MECOM_AML1', 't(3;21)(q26;q22) / ', 'MECOM', 'AML1', '10677531', '97', 'leukemia\r\r', '', '', 'Oncogene', '', '', '', '', '', 'The role of the AML1/MDS1/EVI1 (AME) fusion gene in leukemogenesis is largely unknown. '), ('4586', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '16598301', '97', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Considering that apoptosis-enhancing effect of AML1-ETO would not be favorable to the leukemogenesis harboring the t(8;21) translocation, it must be overcome to fulfill their leukemogenic potential.     ///    \" AML1-ETO, a leukemia-associated fusion protein generated by the frequently occurred chromosome translocation t(8;21) in acute myeloid leukemia, was shown to exert dichotomous functions in leukemic cells, that is, growth arrest versus differentiation block. \"    ///    We show that AML1-ETO significantly stabilizes death receptor Fas protein and increases proapoptotic Bak in addition to reducing Bcl-2 expression.     ///    \"Accordingly, inducible AML1-ETO expression is followed by apoptosis to a lower degree. \"    ///    \"Here, we investigate potential effects of the ecdysone inducible AML1-ETO expression on apoptosis of leukemic U937 cell line. \"    ///    \"By the analysis of oligonucleotide microarray, AML1-ETO was shown to modulate the expressions of an impressive array of pro- and anti-apoptotic genes. \"    ///    Inducible expression of AML1-ETO fusion protein endows leukemic cells with susceptibility to extrinsic and intrinsic apoptosis..     ///    \"Especially, AML1-ETO endows leukemic cells with the susceptibility to anti-Fas agonist antibody, ultraviolet light and camptothecin analog NSC606985-induced apoptosis with increased activation of caspase-3/8. \"'), ('4587', 'BCR_ABL1', '', 'BCR', 'ABL1', '26179066', '97', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Chronic Myeloid Leukaemia (CML) is caused by the BCR/ABL1 fusion gene.     ///    \"After the oncogenic translocation, the BCR/ABL1 gene is under the transcriptional control of BCR promoter but the molecular mechanisms involved in the regulation of oncogene expression are mostly unknown. \"    ///    BCR and BCR/ABL1 expression levels were analysed in CML cell lines after over-expression or silencing of MYC transcription factor.     ///    \"Here we describe a regulatory pathway modulating BCR and BCR/ABL1 expression, showing that the BCR promoter is under the transcriptional control of the MYC/MAX heterodimer. \"    ///    \"In the present study we demonstrate that MYC and its partner MAX bind to the BCR promoter, leading to up-regulation of BCR and BCR/ABL1 at both transcriptional and protein levels. \"    ///    BCR/ABL1 and BCR are under the transcriptional control of the MYC oncogene..     ///    \"Since MYC is frequently over-expressed in BC, this phenomenon could play a critical role in BCR/ABL1 up-regulation and blast aggressiveness acquired during CML evolution.. \"    ///    \"Accordingly, silencing of MYC expression in various BCR/ABL1 positive cell lines causes significant downregulation of BCR and BCR/ABL1, which consequently leads to decreased proliferation and induction of cell death. \"    ///    Both the presence and the levels of BCR/ABL1 expression seem to be critical for CML progression from chronic phase (CP) to blast crisis (BC). '), ('4588', 'FLI_EWS', '', 'FLI', 'EWS', '7845667', '97', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Multiple domains mediate transformation by the Ewing\'s sarcoma EWS/FLI-1 fusion gene..     ///    These results further demonstrate that EWS/FLI-1 is an aberrant transcription factor and suggest that the EWS domain mediates important protein-protein interactions with other factors resulting in the transcriptional modulation of target genes..     ///    \"To determine whether this function is necessary for transformation by EWS/FLI-1, deletion analysis of EWS was performed. \"    ///    \"In contrast to normal FLI-1, the EWS/FLI-1 fusion transforms NIH3T3 cells and this activity requires both EWS and FLI-1 sequences. \"    ///    Finally we demonstrate that EWS/FLI-1 and related FLI-1 chimeras are able to cooperate with another transcription factor to activate a model reporter gene. '), ('4589', 'NUP98_HOXD13', 't(2;11)(q31;p15) / ', 'NUP98', 'HOXD13', '17545593', '97', 'myelodysplastic syndrome;leukemia\r\r', '', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'We previously showed that expression of the NUP98-HOXD13 (NHD13) fusion gene in transgenic mice results in an invariably fatal MDS.     ///    Retroviral insertional mutagenesis identifies genes that collaborate with NUP98-HOXD13 during leukemic transformation.. '), ('4590', 'NPM_ALK', 't(2;5)  / ', 'NPM', 'ALK', '25869285', '97', 'anaplastic large cell lymphoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Anaplastic lymphoma kinase-positive (ALK+) ALCL is associated with the NPM-ALK t(2;5) translocation, which is highly correlated with the identification of the ALK protein by immunohistochemistry. '), ('4591', 'SYT_SSX', '', 'SYT', 'SSX', '11368913', '97', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'This suggests that the SYT/SSX fusion gene may regulate SYT expression from the normal allele and as such alter the normal function of SYT..     ///    The SYT/SSX4 and SYT/SSX2 open reading frame also differed from previously reported SYT/SSX sequences by an in-frame addition of 93bp exon located in the junction between exon 7 and 8 of the SYT. '), ('4592', 'VMP1_RPS6KB1', '', 'VMP1', 'RPS6KB1', '21467264', '97', 'breast cancer\r\r', '', 'Kinase', '', '', '', '', '', 'Seq', 'From these candidate gene fusions, we have found a fusion transcript (RPS6KB1-VMP1) recurrently expressed in ?30% of breast cancers associated with potential clinical consequences. '), ('4593', 'PAX7_FKHR', '', 'PAX7', 'FKHR', '22374423', '97', 'alveolar rhabdomyosarcoma', '', '', '', '', '', '', '', '', 'PAX7-FKHR fusion gene inhibits myogenic differentiation via NF-kappaB upregulation..     ///    We further show that NF-kappaB activity is upregulated in PAX7-FKHR cells when compared to parental MSCs due to upregulation of the PI3K/AKT pathway. '), ('4594', 'SYT_SSX', '', 'SYT', 'SSX', '23313505', '97', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'q11.2), which produces SS-specific fusion gene, SYT-SSX.     ///    \"Surprisingly, the majority (297/312, 95.2%) were up-regulated genes and a result inconsistent with the current concept of SYT-SSX as a transcriptional repressor. \"    ///    \"These results suggest the importance of cellular context for correct understanding of SYT-SSX function, and demonstrated how our new system will help to overcome this issue.. \"    ///    \"Although precise function of SYT-SSX remains to be investigated, accumulating evidences suggest its role in gene regulation via epigenetic mechanisms, and the product of SYT-SSX target genes may serve as biomarkers of SS. \"    ///    Association of these genes with SYT-SSX in SS cells was confirmed by knockdown experiments.     ///    \"Expression profiles of SS-related genes in hPSCs and human mesenchymal stem cells (hMSCs) were strikingly different in response to the induction of SYT-SSX, and more than half of SYT-SSX target genes in hPSCs were not induced in hMSCs. \"    ///    \"Comparing these genes with SS-related genes which were selected by a series of in silico analyses, 49 and 2 genes were finally identified as candidates of up- and down-regulated target of SYT-SSX, respectively. \"'), ('4595', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '26856288', '97', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Frequency and clinical impact of ETV6/RUNX1, AF4-MLL, and BCR/ABL fusion genes on features of acute lymphoblastic leukemia at presentation..     ///    \"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. \"    ///    \"Three major translocations (ETV6-RUNX1, BCR-ABL, and AF4-MLL) in acute lymphoblastic leukemia (ALL) have been shown to affect treatment outcome. \"    ///    \"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.. \"'), ('4596', 'NUP214_DEK', '', 'NUP214', 'DEK', '25765544', '97', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', 'KB', '', 'It also fuses with the NUP214 gene to form the DEK-NUP214 fusion gene in a subset of acute myeloid leukemia.     ///    \"Recently, the roles of the DEK and DEK-NUP214 proteins have been elucidated by global analysis of DNA binding and gene expression, as well as multiple functional studies. \"'), ('4597', 'FUS_ATF1', 't(2;22)(q33;q12) / ', 'FUS', 'ATF1', '17724745', '96', 'clear cell sarcoma;fibrous histiocytoma;sarcoma;histiocytoma\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', ' The molecular hallmark of angiomatoid fibrous histiocytoma (AFH) is not well defined, with only six cases with specific gene fusions reported to date, consisting of either FUS-ATF1 or EWSR1-ATF1.     ///    \"To address this, we investigated the presence of FUS-ATF1, EWSR1-ATF1, and the highly related EWSR1-CREB1 fusion in a group of nine AFHs. \"    ///    \"To address this, we investigated the presence of FUS-ATF1, EWSR1-ATF1, and the highly related EWSR1-CREB1 fusion in a group of nine AFHs.\"'), ('4598', 'NPM_ALK', '', 'NPM', 'ALK', '9885226', '96', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' In anaplastic large-cell lymphoma (ALCL), the (2;5) chromosomal translocation creates a fusion gene encoding the 80-kD NPM-ALK hybrid protein.     ///    Immunocytochemical labeling with these antibodies can therefore confirm that an ALK-positive lymphoma expresses NPM-ALK (rather than a variant ALK-fusion protein) and may also provide evidence for chromosomal anomalies involving the NPM gene other than the classical (2;5) translocation..     ///    The third antibody recognizes the C-terminal portion (deleted in NPM-ALK) and reacts only with wild-type NPM.     ///    \"In contrast to normal tissues, the two antibodies against the N-terminal portion of NPM labeled the cytoplasm of neoplastic cells, in four ALK-positive ALCL, reflecting their reactivity with NPM-ALK fusion protein, whereas the antibody to the C-terminal NPM epitope labeled only cell nuclei. \"'), ('4599', 'EWSR1_ATF1', 't(2;22)(q33;q12) / ', 'EWSR1', 'ATF1', '17724745', '96', 'clear cell sarcoma;fibrous histiocytoma;sarcoma;histiocytoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', ' The molecular hallmark of angiomatoid fibrous histiocytoma (AFH) is not well defined, with only six cases with specific gene fusions reported to date, consisting of either FUS-ATF1 or EWSR1-ATF1.     ///    \"By RT-PCR, eight out of nine tumors showed the presence of the EWSR1-CREB1 fusion, while one had an EWSR1-ATF1 transcript. \"    ///    \"To address this, we investigated the presence of FUS-ATF1, EWSR1-ATF1, and the highly related EWSR1-CREB1 fusion in a group of nine AFHs. \"    ///    All cases were subjected to RT-PCR for EWSR1-ATF1 and EWSR1-CREB1.     ///    \"EWSR1-ATF1, identified in some AFH cases, is the most common genetic abnormality in soft tissue clear cell sarcoma. \"    ///    \"EWSR1-ATF1, identified in some AFH cases, is the most common genetic abnormality in soft tissue clear cell sarcoma.\"    ///    Transcriptional profiling was performed in three tumors and their gene expression was compared to five clear cell sarcomas expressing either the EWSR1-ATF1 or EWSR1-CREB1 fusion. '), ('4600', 'BCR2_ABL1', 't(9;22)(q34;q11) / ', 'BCR2', 'ABL1', '8609723', '96', 'granulocytic sarcoma', 'RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Detailed molecular characterization of the breakpoint in the t(9;22)(q34;q11) revealed that KBM-7 had the BCR 2/ABL II splice junction. '), ('4601', 'PCM1_JAK2', 't(8;9)(p22;p24) / t(8;9)  / ', 'PCM1', 'JAK2', '23372669', '96', 'T cell lymphoma;leukemia;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Here we describe the genomic, transcriptional and signalling characteristics of PCM1-JAK2 formed by t(8;9)(p22;p24) in a trio of cell lines established at indolent (MAC-1) and aggressive (MAC-2A/2B) phases of a cutaneous T-cell lymphoma (CTCL).     ///    t(8;9)(p22;p24)/PCM1-JAK2 activates SOCS2 and SOCS3 via STAT5..     ///    \"To investigate signalling, PCM1-JAK2 was subjected to lentiviral knockdown which inhibited 7 top upregulated genes in t(8;9) cells, notably SOCS2/3. \"    ///    \"SOCS3, but not SOCS2, was also upregulated in a chronic eosinophilic leukemia bearing PCM1-JAK2, highlighting its role as a central signalling target of JAK2 translocation neoplasia. \"    ///    \"Conversely, expression of GATA3, a key T-cell developmental gene silenced in aggressive lymphoma cells, was partially restored by PCM1-JAK2 knockdown. \"    ///    \"PCM1-JAK2 signalling required pSTAT5, supporting a general paradigm of STAT5 activation by JAK2 alterations in lymphoid malignancies. \"'), ('4602', 'BCR_ABL1', 't(9;22)(q34;q11) / ', 'BCR', 'ABL1', '20666852', '96', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The t(9;22)(q34;q11) or BCR/ABL1 rearrangement was detected by cytogenetic analysis or RT/PCR.     ///    \"Of these 94 cases, 17 (18%) cases displayed BCR/ABL1 gene rearrangements and 38 (40%) cases were CD66c positive. \"    ///    \" In B-cell acute lymphoblastic leukemia (B-ALL), testing at diagnosis for BCR/ABL1 gene rearrangements is mandatory for prognostic stratification and treatment decisions. \"    ///    \"Its expression was correlated with BCR/ABL1 rearrangements (P = 0.0001): sensitivity 82%, specificity 69%, positive predictive value 37% and negative predictive value 95%. \"    ///    It would seem better to interpret the absence of CD66c expression with a lack of BCR/ABL1 rearrangement.     ///    \"CD66c expression is correlated, but not specifically, with BCR/ABL1 rearrangement. \"    ///    Some BCR/ABL1(-) B-ALL cases (including hyperdiploid or cases with normal karyotype) were CD66c positive (31%).     ///    Several diagnostic methods have been proposed using flow cytometry to identify BCR/ABL1(+) B-ALL.     ///    Co-expression of CD66c(+) CD13(+) was more frequent in BCR/ABL1(+) B-ALL (29%) than BCR/ABL1(-) cases (4%) (P = 0.0044). '), ('4603', 'ETV6_AML1', 't(12;21)(p13;q22) / ', 'ETV6', 'AML1', '11841426', '96', 'precursor B ALL\r\r', '', '', '', '', '', '', '', '', ' The recently recognized translocation t(12;21)(p13;q22), which results in the ETV6-AML1 fusion product, is the most common genetic rearrangement found in childhood pre-B acute lymphoblastic leukaemia (ALL).     ///    Reverse transcription polymerase chain reaction for the ETV6-AML1 fusion transcript was positive in 14 patients.     ///    \"In the case of ETV6-AML1 pre-B ALL, this characteristic immunophenotype may have implications for the immunogenicity of the leukaemic cells.. \"    ///    ETV6 (TEL)-AML1 pre-B acute lymphoblastic leukaemia cells are associated with a distinct antigen-presenting phenotype..     ///    \"Using flow cytometry, we investigated whether the unique ETV6-AML1 phenotype extended to molecules associated with antigen presentation by analysing 50 diagnostic bone marrow samples from paediatric pre-B ALL patients. \"'), ('4604', 'RET_PTC', 'inv(10) / ', 'RET', 'PTC', '1542652', '96', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In four cases the results indicated that these tumors had RET/PTC activation and a paracentric inversion of the long arm of chromosome 10, inv(10)(q11.2q21), with breakpoints coincident with the regions where RET and D10S170 are located.     ///     RET/PTC is a transforming sequence created by the fusion of the tyrosine kinase domain of the RET protooncogene with the 5\' end of the locus D10S170 designated by probe H4 and is frequently found activated in human papillary thyroid carcinomas.     ///    \"Therefore, a chromosome 10q inversion provides the structural basis for the D10S170-RET fusion that forms the hybrid transforming sequence RET/PTC.. \"    ///    \"To identify the mechanism leading to the generation of the oncogenic sequence RET/PTC, a combined cytogenetic and molecular analysis of several cases of papillary thyroid carcinomas was done. \"    ///    Characterization of an inversion on the long arm of chromosome 10 juxtaposing D10S170 and RET and creating the oncogenic sequence RET/PTC.. '), ('4605', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23201468', '96', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Prospective multicentre evaluation of PCA3 and TMPRSS2-ERG gene fusions as diagnostic and prognostic urinary biomarkers for prostate cancer..     ///    To evaluate the diagnostic and prognostic value of Progensa PCA3 and TMPRSS2-ERG gene fusions (as individual biomarkers and as a panel) for PCa in a prospective multicentre setting.     ///     Prostate cancer antigen 3 (PCA3) and v-ets erythroblastosis virus E26 oncogene homolog (TMPRSS2-ERG) gene fusions are promising prostate cancer (PCa) specific biomarkers that can be measured in urine.     ///    \"TMPRSS2-ERG had prognostic value, whereas PCA3 did not. \"    ///    Both PCA3 and TMPRSS2-ERG had significant additional predictive value to the ERSPC risk calculator parameters in multivariate analysis (p<0.001 and resp.     ///    \"We assessed the predictive value of Progensa PCA3 and TMPRSS2-ERG (quantitative nucleic acid amplification assay to detect TMPRSS2-ERG messenger RNA [mRNA]) for PCa, Gleason score, clinical tumour stage, and PCa significance (individually and as a marker panel). \"    ///    TMPRSS2-ERG had independent additional predictive value to PCA3 and the ERSPC risk calculator parameters for predicting PCa.     ///    Sensitivity of PCA3 increased from 68% to 76% when combined with TMPRSS2-ERG.     ///    \"The area under the curve (AUC) increased from 0.799 (ERSPC risk calculator), to 0.833 (ERSPC risk calculator plus PCA3), to 0.842 (ERSPC risk calculator plus PCA3 plus TMPRSS2-ERG) to predict PCa. \"    ///    \"TMPRSS2-ERG added significant predictive value to the ERSPC risk calculator to predict biopsy Gleason score (p<0.001) and clinical tumour stage (p=0.023), whereas PCA3 did not. \"    ///    Implementing the novel urinary biomarker panel PCA3 and TMPRSS2-ERG into clinical practice would lead to a considerable reduction of the number of prostate biopsies.. '), ('4606', 'RARA_PML', 't(15;17)(q22;q12-q21) / t(11;17) / t(4;11) / t(1;22) / del(5) / del(7) / t(15;17) / ', 'RARA', 'PML', '7519869', '96', 'acute promyelocytic leukemia;myelodysplastic syndrome;leukemia\r\r', 'PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Molecular analysis by reverse transcriptase PCR analysis showed the presence of wild type retinoic acid receptor alpha (RARA) and the absence of the PML-RARA chimeric gene associated with t(15;17). '), ('4607', 'NPM_MLF1', 't(3;5)  / t(5;17)  / t(2;5)  / ', 'NPM', 'MLF1', '9328447', '95', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', '', '', '', '', '', '', '', '', 'The additional 58 amino acids (amino acids 117-175) of the NPM sequence that are contained in the product of the NPM-MLF1 fusion gene relative to the product of the NPM-ALK fusion appear responsible for MNDA binding.     ///    \"Three reciprocal chromosome translocations found in certain cases of leukemia/lymphoma involve fusions with the NPM/B23 gene, t(5;17) NPM-RARalpha, t(2;5) NPM-ALK, and the t(3;5) NPM-MLF1. \"    ///    \"However, MNDA did bind the NPM-MLF1 product of the t(3;5) that contains the N-terminal 175 residues of NPM. \"    ///    MNDA binds NPM/B23 and the NPM-MLF1 chimera generated by the t(3;5) associated with myelodysplastic syndrome and acute myeloid leukemia.. '), ('4608', 'ETO_AML1', 't(8;21) / t(8;21)  / ', 'ETO', 'AML1', '16390317', '95', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The chromosomal translocation t(8;21), generating the AML1-ETO fusion protein, is frequently associated with French-American-British (FAB) type M2 acute myeloid leukemia (AML).     ///    AML1-ETO inhibits normal definitive hematopoiesis and blocks erythroid differentiation.     ///    Several mechanistic models for the role of AML1-ETO in leukemia development have emerged over the last decade.     ///    This review will consider the clinical and mechanistic significance of erythroid inhibition by AML1-ETO.     ///    \"Because erythropoiesis occurs in a RUNX-independent manner, this dominant-negative \"\"classical\"\" model cannot explain the prominent repression of red-cell development by AML1-ETO. \"'), ('4609', 'EML4_ALK', '', 'EML4', 'ALK', '24504521', '95', 'prostate cancer\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The identification of recurrent gene fusions in common epithelial cancers--for example, TMPRSS2/ERG in prostate cancer and EML4/ALK in nonsmall cell lung carcinomas--has raised the question of whether fusion genes are pathogenetically important also in ovarian carcinomas.    ///    \" The identification of recurrent gene fusions in common epithelial cancers--for example, TMPRSS2/ERG in prostate cancer and EML4/ALK in nonsmall cell lung carcinomas--has raised the question of whether fusion genes are pathogenetically important also in ovarian carcinomas. \"'), ('4610', 'PAX7_FKHR', 't(2;13)(q35;q14) / t(1;13)(p36;q14) / ', 'PAX7', 'FKHR', '9223312', '95', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'In the pediatric solid tumor alveolar rhabdomyosarcoma, a consistent t(2;13)(q35;q14) or variant t(1;13)(p36;q14) translocation generates PAX3-FKHR or PAX7-FKHR fusion proteins, respectively.     ///    \"In contrast, PAX7-FKHR overexpression results from fusion gene amplification. \"    ///    \"Thus, gene-specific mechanisms were selected to overexpress PAX3-FKHR and PAX7-FKHR in alveolar rhabdomyosarcoma, presumably due to differences in regulation between the wild-type loci. \"    ///    \"Furthermore, PAX3-FKHR and PAX7-FKHR overexpression occurs by distinct mechanisms. \"'), ('4611', 'PAX3_FKHR', 't(2;13)(q35;q14) / t(1;13)(p36;q14) / ', 'PAX3', 'FKHR', '9223312', '95', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'In the pediatric solid tumor alveolar rhabdomyosarcoma, a consistent t(2;13)(q35;q14) or variant t(1;13)(p36;q14) translocation generates PAX3-FKHR or PAX7-FKHR fusion proteins, respectively.     ///    \"Thus, gene-specific mechanisms were selected to overexpress PAX3-FKHR and PAX7-FKHR in alveolar rhabdomyosarcoma, presumably due to differences in regulation between the wild-type loci. \"    ///    Transcription of PAX3-FKHR is increased relative to wild-type PAX3 by a copy number-independent process.     ///    \"Furthermore, PAX3-FKHR and PAX7-FKHR overexpression occurs by distinct mechanisms. \"'), ('4612', 'PAX3_FKHR', 't(2;13) (q35;q14) / ', 'PAX3', 'FKHR', '10393185', '95', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' The Pax3-FKHR fusion protein is present in alveolar rhabdomyosarcoma and results from the t(2;13) (q35;q14) chromosomal translocation.     ///    The Pax3-FKHR oncoprotein is unresponsive to the Pax3-associated repressor hDaxx..     ///    The Pax3-FKHR fusion is unresponsive to this repressive effect despite an observed endogenous interaction with hDaxx in a rhabdomyosarcoma tumor cell line. '), ('4613', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '16247445', '95', '', '', '', '', '', '', '', '', '', 'ELA2 has also been investigated as a possible target of the leukemic fusion protein AML1-ETO resulting from the t(8;21) chromosomal translocation.     ///    \"ELA2 is regulated by hematopoietic transcription factors, but not repressed by AML1-ETO.. \"    ///    \"Since neither ETO nor AML1-ETO are typically expressed in hematopoietic progenitors, we hypothesize that it is the interactions between AML1-ETO and regulatory cofactors in disease-state cells that alter gene expression programs during hematopoiesis. \"    ///    \"AML1-ETO, like AML1, binds the ELA2 promoter in the myeloid cell lines Kasumi-1 and U937, but unexpectedly fails to significantly alter expression of ELA2. \"    ///    \"Our observations indicate that AML1-ETO may not be a constitutive repressor of gene expression in every case in which it can associate with DNA, either on its own or in conjunction with C/EBPalpha. \"    ///    \"Although AML1-ETO downregulates the expression of C/EBPalpha, changes in C/EBPalpha expression do not correlate with changes in the expression of ELA2. \"    ///    These protein-protein interactions may not require simultaneous DNA binding by AML1-ETO for the deleterious effects of the fusion protein to be realized.. '), ('4614', 'NPM_ALK', 't(2;5)(p23;q35) / t(2;5) / ', 'NPM', 'ALK', '12115586', '95', 'neuroectodermal tumor', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' The initial identification of the ALK gene, expressed as C-terminal part of the transforming fusion protein NPM-ALK in the t(2;5)(p23;q35) lymphoma-associated chromosomal translocation, revealed a novel receptor tyrosine kinase (RTK).     ///    \"Furthermore, full length receptor expression is absent in cell lines of the hematopoietic system with the exception of t(2;5)-associated anaplastic large cell lymphomas lines (ALCL), which are known to express chimeric NPM-ALK mRNA. \"    ///    \"While the constitutive activation of chimeric NPM-ALK molecules could be shown, no evidence was found for induced or constitutively activated ALK receptors in neuroblastoma, melanoma or breast carcinoma cell lines. \"'), ('4615', 'FLI_EWS', 't(11;22)(q24;q12) / ', 'FLI', 'EWS', '15335184', '95', 'neuroectodermal tumor;ewing sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'EWS/FLI-1 chimeric mRNA that originated from the characteristic t(11;22)(q24;q12) chromosomal translocation was detected by RT-PCR and nucleotide sequence analysis. '), ('4616', 'RBM15_MKL1', 't(1;22)  / ', 'RBM15', 'MKL1', '12944485', '95', 'leukemia\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Finally, the RBM15-MKL1 fusion protein formed by the t(1;22) translocation of acute megakaryoblastic leukemia had a markedly increased ability to activate SRE reporter genes, suggesting that its activation of SRF target genes may contribute to leukemogenesis.. '), ('4617', 'RUNX1T1_RUNX1', 't(8;21)(q22;q22) / inv(16)  / ', 'RUNX1T1', 'RUNX1', '17898786', '95', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Further, we show that overexpression of CD200 and gamma-catenin is also associated with the inv(16) abnormality which like RUNX1-RUNX1T1 disrupts core binding factor activity.     ///    \" The t(8;21)(q22;q22) occurs frequently in acute myelogenous leukaemia and gives rise to the transcription factor fusion protein, RUNX1-RUNX1T1 (also known as AML1-ETO). \"    ///    These data provide the most comprehensive and pertinent assessment of the effect of RUNX1-RUNX1T1 on gene expression and demonstrate the highly context-dependent effects of this fusion gene..     ///    \"To identify the genes dysregulated by the aberrant transcriptional activity of RUNX1-RUNX1T1, we used microarrays to determine the effect of this mutation on gene expression in human progenitor cells and during subsequent development. \"    ///    Gene signatures of these developmental subsets were very dissimilar indicating that effects of RUNX1-RUNX1T1 are highly context dependent.     ///    Transcriptional dysregulation mediated by RUNX1-RUNX1T1 in normal human progenitor cells and in acute myeloid leukaemia..     ///    \"Individually, none of these changes were sufficient to recapitulate the effects of RUNX1-RUNX1T1 on normal development. \"'), ('4618', 'BP5_BP4', '16p11.2 / ', 'BP5', 'BP4', '26872257', '95', '', '', '', '', '', '', '', '', '', 'Here, we explored these relationships using novel engineered mouse models carrying a deletion (Del/+) or a duplication (Dup/+) of the Sult1a1-Spn region homologous to the human 16p11.2 BP4-BP5 locus.     ///     The 16p11.2 600 kb BP4-BP5 deletion and duplication syndromes have been associated with developmental delay. '), ('4619', 'MYH11_CBF', 'inv(16)(p13q22) / ', 'MYH11', 'CBF', '18024381', '95', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'A case of acute myeloid leukemia with inv(16)(p13q22) reveals a novel MYH11 breakpoint and a new CBF beta-MYH11 transcript variant..     ///    \"However, studies revealed a CBF beta-MYH11 fusion transcript which did not correspond to any of the 10 known variants. \"'), ('4620', 'FGF4_FGF3', '1p36.11 / ', 'FGF4', 'FGF3', '15942670', '95', 'bladder cancer;esophageal cancer;Kaposi\'s sarcoma', '', '', '', '', '', '', '', '', 'FGF34Rep1 were clustered within the FGF3-FGF4 locus as well as around the IL28RA locus (1p36.11) and the NFAM1 locus (22q13.2).     ///    Comparative genomics on mammalian Fgf3-Fgf4 locus..     ///    \"This is the first report on comparative genomics analyses on the Fgf3-Fgf4 locus within human, rat and mouse genomes.. \"'), ('4621', 'SULT1A1_SPN', '16p11.2 / ', 'SULT1A1', 'SPN', '26872257', '95', '', '', '', '', '', '', '', '', '', 'Here, we explored these relationships using novel engineered mouse models carrying a deletion (Del/+) or a duplication (Dup/+) of the Sult1a1-Spn region homologous to the human 16p11.2 BP4-BP5 locus.     ///    Transcriptomic analysis revealed that the majority of the genes located in the Sult1a1-Spn region were sensitive to dosage with a major effect on several pathways associated with neurocognitive and metabolic phenotypes. '), ('4622', 'RIZ1_PRDM1', '11p11.2 / ', 'RIZ1', 'PRDM1', '12557265', '95', '', '', '', '', '', '', '', '', '', 'p53-induced protein (PIG11), and pRDI-BF1-rIZ1 domain containing 11) localized to the minimal liver tumor suppressor region within 11p11.2-p12.     ///    \"Three of the four genes (mitochondrial carrier homolog 2, PIG11, and pRDI-BF1-rIZ1 domain containing 11) were uniformly expressed by an index panel of suppressed microcell hybrid cell lines, identifying them as candidate liver tumor suppressor genes. \"');
INSERT INTO `ChimerPub_dump` VALUES ('4623', 'DEK_CAN', 't(6;9)  / ', 'DEK', 'CAN', '16696975', '95', 'leukemia\r\r', '', '', '', '', '', '', '', '', ' The proto-oncogene protein DEK has been implicated in the t(6;9) chromosomal translocation associated with a subtype of acute myelogenous leukemia (AML), which results in the formation of a DEK-CAN fusion protein. '), ('4624', 'ALL1_AF9', 't(4;11)  / t(9;11) / ', 'ALL1', 'AF9', '17726105', '95', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'The most common translocations in ALL1-associated leukemias are t(4;11) and t(9;11), which generate ALL1/AF4 and ALL1/AF9 fusion protein, respectively.     ///    Screening of K562 cells producing recombinant ALL1/AF4 or ALL1/AF9 fusion protein revealed transcriptional up-regulation of the EphA7. '), ('4625', 'MALT1_API2', 't(11;18)(q21;q21) / ', 'MALT1', 'API2', '12651604', '95', 'MALT lymphoma;B cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', ' t(11;18)(q21;q21) is associated with mucosa-associated lymphoid tissue (MALT)-type lymphoma and results in API2-MALT1 fusion.     ///    \"The API2-MALT1 fusion transcript was detected in 21 of 51 (41%) cases, and was correlated with the absence of any underlying autoimmune disease, and with a normal serum lactate dehydrogenase, a \"\"typical\"\" histology without marked plasmacytic differentiation or an increased number of large cells, and aberrant nuclear BCL10 expression. \"    ///    API2-MALT1 fusion defines a distinctive clinicopathologic subtype in pulmonary extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue..     ///    API2-MALT1 fusion is detected most frequently in MALT lymphomas primarily involving the lung.     ///    A large-scale study with a long follow-up is necessary to establish the prognostic significance of API2-MALT1 fusion..     ///    \"We therefore screened 51 cases of pulmonary MALT lymphoma for API2-MALT1 fusion, and studied its relationship with clinicopathologic factors including the immunohistochemical expression of BCL10, another MALT lymphoma-associated molecule. \"    ///    \"In addition, this alteration may define a homogeneous MALT lymphoma subtype that is clinically more indolent and histologically more \"\"typical.\"\" Aberrant nuclear BCL10 expression may have a possible role as a tool to screen for this API2-MALT1 fusion. \"    ///    These data suggest that the API2-MALT1 fusion may be a causative gene abnormality unrelated to autoimmune disease. '), ('4626', 'OTT_MAL', 't(1;22)(p13;q13) / ', 'OTT', 'MAL', '15849773', '95', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The t(1;22)(p13;q13) is a nonrandom chromosomal abnormality in acute leukemia with the fusion oncogene, RBM15-MKL1 (OTT-MAL), identified recently.     ///    RBM15-MKL1 (OTT-MAL) fusion transcript in an adult acute myeloid leukemia patient..     ///    The RBM15-MKL1 (OTT-MAL) fusion transcript was also confirmed by the reverse transcriptase-polymerase chain reaction. '), ('4627', 'RBM15_MKL1', 't(1;22)(p13;q13) / ', 'RBM15', 'MKL1', '15849773', '95', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', 'KB', 'Seq', ' The t(1;22)(p13;q13) is a nonrandom chromosomal abnormality in acute leukemia with the fusion oncogene, RBM15-MKL1 (OTT-MAL), identified recently.     ///    RBM15-MKL1 (OTT-MAL) fusion transcript in an adult acute myeloid leukemia patient..     ///    The RBM15-MKL1 (OTT-MAL) fusion transcript was also confirmed by the reverse transcriptase-polymerase chain reaction. '), ('4628', 'TERT_CLPTM1L', '5p15.33 / ', 'TERT', 'CLPTM1L', '23368278', '95', 'lung cancer;lung cancer\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Significant association of 5p15.33 (TERT-CLPTM1L genes) with lung cancer in Chinese Han population.. '), ('4629', 'HRX_ALL1', 't(1;11) (p32-q23) / ', 'HRX', 'ALL1', '9041173', '95', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'We report here the cellular localization of the HRX/ALL1 protein as well as that of the HRX/ALL1-eps15 fusion protein, the result of the t(1;11) (p32-q23) translocation of acute myeloid leukemias.     ///    The localization of the HRX/ALL1 protein to specific nuclear subdomains is altered by fusion with its eps15 translocation partner..     ///     Translocations involving the HRX/ALL1 locus at chromosomal region 11q23 are among the most frequent cytogenetic abnormalities in acute leukemias.     ///    The HRX/ALL1 protein is a putative transcription factor that has been implicated in developmental regulation in mammals.     ///    \"Thus, the fusion with eps15 alters the cellular compartmentalization of HRX/ALL1, providing a putative mechanism for activation of HRX/ALL1 by 11q23 abnormalities.. \"    ///    The HRX/ALL1 protein was localized to both the cytoplasm and the nucleus.     ///    The HRX/ALL1-eps15 localized exclusively to the nucleus within bodies that were smaller and more numerous than the HRX/ALL1 nuclear bodies.     ///    HRX/ALL1 fusion with an unknown partner in leukemia blasts with 11q23 abnormalities had similar morphological features.     ///    11q23 translocations involve different chromosome partners and lead to the formation of HRX/ALL1 fusion proteins. '), ('4630', 'KCNQ1_CDKN1C', '11p15.5 / ', 'KCNQ1', 'CDKN1C', '26784546', '95', 'Beckwith Wiedemann syndrome\r\r', '', 'Kinase', '', '', '', '', '', '', 'Imprinting of the IGF2/H19 locus and the CDKN1C/KCNQ1 locus on chromosome 11p15.5 is mediated by CTCF, and this regulation is lost in BWS, leading to aberrant overexpression of growth-promoting genes. '), ('4631', 'BCR_ABL1', 't(9;22) / ', 'BCR', 'ABL1', '22829126', '95', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Accurate and standardized methods for the quantitative measurement of BCR-ABL1 are a prerequisite for monitoring of treatment response in t(9;22)-positive leukemia.     ///    \"Here, we describe a novel multiplex assay system based on the proven TaqMan and Armored RNA technologies and optimized for sensitive detection of three BCR-ABL1 fusion transcripts and ABL1 in a single reaction. \"    ///    Direct comparison with a reference laboratory calibrated to the international scale (IS) demonstrated minimal analytical bias between methods and an overall accuracy and precision within the performance range required for quantitative measurement of BCR-ABL1 on the IS.     ///    Establishment of a standardized multiplex assay with the analytical performance required for quantitative measurement of BCR-ABL1 on the international reporting scale.. '), ('4632', 'TNFRSF11B_OPG', '1p13.2 / ', 'TNFRSF11B', 'OPG', '20548944', '95', '', '', '', '', '', '', '', '', '', 'A two-stage meta-analysis of GWAS from 7,633 Caucasian women and 3,657 men, revealed three novel loci associated with osteoporosis-related traits, including chromosome 1p13.2 (RAP1A, p = 3.6x10(-8)), 2q11.2 (TBC1D8), and 18q11.2 (OSBPL1A), and confirmed a previously reported region near TNFRSF11B/OPG gene. '), ('4633', 'PTD_MLL', 't(15;17)  / t(8;21)  / ', 'PTD', 'MLL', '22095226', '95', '', '', '', '', '', '', '', '', '', 'There was a close association of Wif-1 hypermethylation with t(15;17) (P=0.0005) and CEBPA mutation (P<0.0001), DKK1 hypermethylation with t(8;21) (P<0.0001) and ASXL1 mutation (P=0.0078), SFRP-1 hypermethylation with t(8;21) (P<0.0001), SFRP-2 hypermethylation with AML1/RUNX1 mutation (P=0.0012), and SFRP-5 hypermethylation with MLL/PTD (P=0.0505). '), ('4634', 'MLL_ENL', 't(4;11) / t(9;11)  / t(11;19)  / t(12;21)  / t(1;19)  / ', 'MLL', 'ENL', '25137060', '95', 'leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'We validated GIPFEL for the five most common gene fusions associated with childhood leukemia (MLL-AF4, MLL-AF9, MLL-ENL, ETV6-RUNX1, and TCF3-PBX1). '), ('4635', 'BCR_ABL1', '', 'BCR', 'ABL1', '24070327', '95', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The hallmark of CML (chronic myeloid leukaemia) is the BCR (breakpoint cluster region)-ABL fusion gene. '), ('4636', 'CALM_AF10', 'inv (7)(p15q34) / del (9) / ', 'CALM', 'AF10', '18299449', '95', 'T ALL\r\r', '', '', '', '', '', '', '', '', 'One subgroup, including MLL-rearranged, CALM-AF10 or inv (7)(p15q34) patients, is characterized by elevated expression of HOXA genes. '), ('4637', 'BCR_ABL1', 't(9;22)  / inv(16)  / t(9;22) / inv(16)(p13q22) / ', 'BCR', 'ABL1', '24724063', '95', 'acute myeloid leukemia;myeloid leukemia;leukemia;hematologic malignancy;hematologic malignancy\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'This study shows that observations of bone marrow morphology, initial and follow-up cytogenetic studies, and karyotyping of BCR/ABL1 and CBFB/MYH11 provide valuable information for characterizing hematologic malignancies exhibiting t(9;22) and inv(16) coexistence.. '), ('4638', 'MIR133a-2_MIR1-1', '6p12.1 / ', 'MIR133a-2', 'MIR1-1', '22308266', '95', '', '', '', '', '', '', '', '', '', 'Interestingly, miR-1-1/miR-133a-2,?miR-1-2/miR-133a-1, and miR-206/miR-133b form clusters in three different chromosomal regions of the human genome - 20q13.33, 18q11.2 and 6p12.1, respectively. '), ('4639', 'ETO_AML1', 't(1;19)  / t(8;21)  / ', 'ETO', 'AML1', '24064250', '95', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', '', '', '', '', '', '', '', '', 'Deletion of DES abrogates silencing of E2A activity by AML1-ETO in t(8;21) leukemia cells or by ETO-2 in normal hematopoietic cells.     ///    \"For example, whereas the E2A portion of the E2A-Pbx1 leukemia fusion protein mediates robust transcriptional activation in t(1;19) acute lymphoblastic leukemia, the transcriptional activity of wild-type E2A is silenced by high levels of corepressors, such as the AML1-ETO fusion protein in t(8;21) acute myeloid leukemia and ETO-2 in hematopoietic cells. \"'), ('4640', 'SWS_SJS2', '5p13.1 / ', 'SWS', 'SJS2', '14740318', '95', '', '', '', '', '', '', '', '', '', 'Through studying a series of 19 families with SWS/SJS2, we have mapped the disease gene to chromosome 5p13.1 at locus D5S418 (Zmax=10.66 at theta =0) and have identified null mutations in the leukemia inhibitory factor receptor (LIFR or gp190 chain) gene. '), ('4641', 'ETO_AML1', 't(8;21)(q22;q22) / ', 'ETO', 'AML1', '23390536', '95', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' AML1-ETO fusion protein (AE) is generated by t(8;21)(q22;q22) chromosomal translocation, which is one of the most frequently observed structural abnormalities in acute myeloid leukemia (AML) and displays a pivotal role in leukemogenesis. '), ('4642', 'WAF1_CIP1', 'p11;q21 / ', 'WAF1', 'CIP1', '19422821', '95', 'renal cell carcinoma\r\r', '', '', '', '', '', '', '', '', 'Finally, we show that in t(X;1)(p11;q21)-positive renal tumor cells several processes that link PRCCTFE3 expression to p21((WAF1/CIP1))-mediated cell cycle delay are abrogated.     ///    \"This delay, which is mediated by induction of the cyclin-dependent kinase inhibitor p21((WAF1/CIP1)), affects both the G1/S and the G2/M phases of the cell cycle and prevents the cells from undergoing polyploidization. \"    ///    We also show that the PRCCTFE3 fusion protein binds directly to the p21((WAF1/CIP1)) promoter and that the PRCCTFE3-induced up-regulation of p21((WAF1/CIP1)) leads to activation of the pRB pathway. '), ('4643', 'EPS15_ALL1', 't(1;11) (p32-q23) / ', 'EPS15', 'ALL1', '9041173', '95', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'We report here the cellular localization of the HRX/ALL1 protein as well as that of the HRX/ALL1-eps15 fusion protein, the result of the t(1;11) (p32-q23) translocation of acute myeloid leukemias.     ///    The HRX/ALL1-eps15 localized exclusively to the nucleus within bodies that were smaller and more numerous than the HRX/ALL1 nuclear bodies. '), ('4644', 'P-gp_MDR1', 't(8;21)  / t(8;21) / ', 'P-gp', 'MDR1', '11734301', '95', 'leukemia\r\r', '', '', '', '', '', '', '', '', '(2) t(8;21)AML type, in which P-gp/MDR1 expression was augmented by ATRA, while CD34 was kept high.     ///    \"(4) monocytic AML type, in which P-gp/MDR1 expression was augmented by ATRA, while CD34 expression decreased, and strong Egr1 expression was downregulated just prior to the augmentation of P-gp/MDR1 expression. \"    ///    \"By liquid culture of leukemia cell lines and fresh AML cells with the addition of all-trans retinoic acid (ATRA), modulation of P-gp/MDR1 and Egr1 was observed and the pattern of modulation was divided into four groups: (1) blastic AML type, in which distinct expression of P-gp/MDR1 and CD34 was not influenced by ATRA. \"    ///    \"Finally, expression of P-gp/MDR1 in monocytic leukemia, which was functionally confirmed by Rh123 efflux study, was thought to be closely related to the characteristic modulation of Egr1 expression by ATRA.. \"    ///    \"(3) AML M3 type, in which P-gp/MDR1 expression was reduced with granulocytic differentiation by ATRA. \"    ///    \"However, P-gp/MDR1 expression augmented by ATRA, which was observed in monocytic AML, was recognized as a functional molecule of mature monocyte/macrophage, because CD34 expression decreased and CD13 expression increased by ATRA. \"    ///    \"Previous reports have suggested that P-gp/MDR1 plays an important role in resistance to chemotherapy, and is recognized as one of the stem cell marker. \"'), ('4645', 'RUNX1_ETV6', 't(12;21)(p13;q22) / t(12;21)  / ', 'RUNX1', 'ETV6', '21914494', '95', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Within the B-cell precursor group, t(12;21)(p13;q22) [ETV6/RUNX1] cases (n = 19) showed a much higher frequency of hTERT methylation than high-hyperdiploid (51-61 chromosomes) ALL (n = 44) (63% and 7%, respectively. '), ('4646', 'TCF3_PBX1', 't(4;11) / t(9;11)  / t(11;19)  / t(12;21)  / t(1;19)  / ', 'TCF3', 'PBX1', '25137060', '95', 'leukemia\r\r', 'PCR', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'We validated GIPFEL for the five most common gene fusions associated with childhood leukemia (MLL-AF4, MLL-AF9, MLL-ENL, ETV6-RUNX1, and TCF3-PBX1). '), ('4647', 'MIR133a-1_MIR1-2', '6p12.1 / ', 'MIR133a-1', 'MIR1-2', '22308266', '95', '', '', '', '', '', '', '', '', '', 'Interestingly, miR-1-1/miR-133a-2,?miR-1-2/miR-133a-1, and miR-206/miR-133b form clusters in three different chromosomal regions of the human genome - 20q13.33, 18q11.2 and 6p12.1, respectively. '), ('4648', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '24504521', '95', 'prostate cancer\r\r', 'PCR', '', '', '', '', '', 'KB', 'Seq', ' The identification of recurrent gene fusions in common epithelial cancers--for example, TMPRSS2/ERG in prostate cancer and EML4/ALK in nonsmall cell lung carcinomas--has raised the question of whether fusion genes are pathogenetically important also in ovarian carcinomas. '), ('4649', 'BCR_ABL1', 'del(20q)  / t(9;22)  / del(20q) / ', 'BCR', 'ABL1', '21350093', '95', 'myelodysplastic syndrome;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'All patients initially had BCR-ABL1 and t(9;22) (q34;q11.2) and achieved morphologic and cytogenetic remission after therapy.     ///    \"BCR-ABL1 fusion transcript levels were absent or low (median, 0.01%). \"'), ('4650', 'DTNB_ASXL2', 't(2;8) / 2p23.3 / ', 'DTNB', 'ASXL2', '15138607', '95', 'myelodysplastic syndrome;neuroblastoma\r\r', '', '', '', '', '', '', '', '', 'ASXL3-DTNA locus at chromosome 18q12.1 and ASXL2-DTNB locus at 2p23.3 were paralogous regions within the human genome. '), ('4651', 'RARA_PML', '', 'RARA', 'PML', '20359255', '95', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', ' Acute promyelocytic leukemia (APL) with atypical breakpoints in the promyelocytic leukemia (PML) and retinoic acid receptor-alpha (RARA) genes represents a rare leukemic event, which occurs preferentially in patients with variant types of the PML/RARA fusion gene.     ///    A case of a novel PML/RARA short fusion transcript with truncated transcription variant 2 of the RARA gene.. '), ('4652', 'RUNX1_MECOM', 't(3;21)(q26;q22) / ', 'RUNX1', 'MECOM', '22039883', '95', 'leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'We first identify essential domains for leukemogenesis through structure-function studies on both EVI1 and the t(3;21)(q26;q22)-derived RUNX1-MDS1-EVI1 (RME) protein, which revealed that DNA binding to the cognate motif GACAAGATA via the first of two zinc finger domains (ZF1, encompassing fingers 1-7) is essential transforming activity. '), ('4653', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '16540647', '95', '', '', '', '', '', '', '', '', '', ' Human acute myeloid leukemias with the t(8;21) translocation express the AML1-ETO fusion protein in the hematopoietic stem cell compartment and show impairment in erythroid differentiation.     ///    \"Correspondingly, GATA-1, a central transcriptional regulator of erythroid differentiation, undergoes repression by AML1-ETO in a nonconventional histone deacetylase-independent manner. \"    ///    \"In particular, GATA-1 acetylation by its transcriptional coactivator, p300/CBP, a critical regulatory step in programming erythroid development, is efficiently blocked by AML1-ETO. \"    ///    Erythroid inhibition by the leukemic fusion AML1-ETO is associated with impaired acetylation of the major erythroid transcription factor GATA-1..     ///    \"Furthermore, the E1A-GATA-1 fusion, but not wild-type GATA-1, rescues erythroid lineage commitment in primary human progenitors expressing AML1-ETO. \"    ///    This clinical finding is reproduced in multiple murine and cell culture model systems in which AML1-ETO specifically interferes with erythroid maturation.     ///    Fusion of a heterologous E1A coactivator recruitment module to GATA-1 overrides the inhibitory effects of AML1-ETO on GATA-1 acetylation and transactivation.     ///    \"These results ascribe a novel repressive mechanism to AML1-ETO, blockade of GATA-1 acetylation, which correlates with its inhibitory effects on primary erythroid lineage commitment.. \"    ///    \"Using purified normal human early hematopoietic progenitor cells, we find that AML1-ETO impedes the earliest discernable steps of erythroid lineage commitment. \"'), ('4654', 'IGF2_H19', '11p15.5 / ', 'IGF2', 'H19', '26784546', '95', 'Beckwith Wiedemann syndrome\r\r', '', '', '', '', '', '', '', '', 'Imprinting of the IGF2/H19 locus and the CDKN1C/KCNQ1 locus on chromosome 11p15.5 is mediated by CTCF, and this regulation is lost in BWS, leading to aberrant overexpression of growth-promoting genes. '), ('4655', 'BCL2_IGH', 't(14;18)  / ', 'BCL2', 'IGH', '11097057', '95', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' In an effort to identify potential upregulators of bcl-2 activity in t(14;18) follicular B lymphoma cells, we detected a hybrid bcl-2/IgH RNA transcribed in antisense orientation. '), ('4656', 'NDK_NM23', '3p21.3 / ', 'NDK', 'NM23', '10453732', '95', '', '', '', '', '', '', '', '', '', 'NME6: a new member of the nm23/nucleoside diphosphate kinase gene family located on human chromosome 3p21.3..     ///    \" The NME (nm23/nucleoside diphosphate kinase) gene family in human is involved in the phosphorylation of nucleoside diphosphates and a variety of regulatory phenomena associated with development, oncogenic transformation, and metastasis. \"'), ('4657', 'RUNX1_ETO', 't(8;21) / ', 'RUNX1', 'ETO', '12576332', '95', 'leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'By contrast, RUNX1-ETO inhibition of GATA function may constitute a potential mechanism for the blockade of erythroid and megakaryocytic differentiation seen in leukemias with t(8;21)..     ///    \"By contrast, the RUNX1-ETO leukemic fusion protein potently repressed GATA-1-mediated transactivation. \"'), ('4658', 'RUNX1_ETO', 't(8;21)  / ', 'RUNX1', 'ETO', '26018585', '95', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'This is also true for the t(8;21) translocation that gives rise to the RUNX1-ETO fusion protein and initiates the most common form of human AML.     ///    \"Here we study the differentiation of mouse embryonic stem cells expressing an inducible RUNX1-ETO gene into blood cells as a model, combined with genome-wide analyses of transcription factor binding and gene expression. \"    ///    \"However, the response of the transcriptional network to RUNX1-ETO expression is developmental stage specific, highlighting the molecular mechanisms determining specific target cell expansion after an oncogenic hit. \"    ///    \"RUNX1-ETO interferes with both the activating and repressive function of its normal counterpart, RUNX1, at early and late stages of blood cell development. \"'), ('4659', 'WT2_BWS', '11p15.5 / ', 'WT2', 'BWS', '9441738', '95', 'rhabdomyosarcoma;Beckwith Wiedemann syndrome;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Novel transcribed sequences within the BWS/WT2 region in 11p15.5: tissue-specific expression correlates with cancer type.. '), ('4660', 'FUS_ERG', 't(16;21)  / t(16;21) / ', 'FUS', 'ERG', '26148230', '95', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'In acute myeloid leukemias harboring t(16;21), ERG function is deregulated due to a fusion with FUS/TLS resulting in the expression of a FUS-ERG oncofusion protein.     ///    The oncofusion protein FUS-ERG targets key hematopoietic regulators and modulates the all-trans retinoic acid signaling pathway in t(16;21) acute myeloid leukemia..     ///    All-trans retinoic acid treatment of t(16;21) cells as well as FUS-ERG knockdown alleviate the myeloid-differentiation block.     ///    \"Moreover, in t(16;21) FUS-ERG co-occupies genomic regions bound by the nuclear receptor heterodimer RXR:RARA inhibiting target gene expression and interfering with hematopoietic differentiation. \"    ///    \"Together, the results suggest that FUS-ERG acts as a transcriptional repressor of the retinoic acid signaling pathway. \"    ///    \"Here, we show that FUS-ERG acts in the context of a heptad of proteins (ERG, FLI1, GATA2, LYL1, LMO2, RUNX1 and TAL1) central to proper expression of genes involved in maintaining a stem cell hematopoietic phenotype. \"'), ('4661', 'ZNF198_FGFR1', 't(8;13)(p11;q12) / ', 'ZNF198', 'FGFR1', '17389761', '95', 'acute myeloid leukemia;myeloproliferative disorder;myeloid leukemia;leukemia\r\r', '', 'Kinase', '', '', '', '', 'KB', '', 'The syndrome associated with t(8;13)(p11;q12) results in expression of the ZNF198-FGFR1 fusion tyrosine kinase that plays a pathogenic role in hematopoietic transformation.     ///    \"We found that ZNF198-FGFR1 activated both the AKT and mitogen activated protein kinase (MAPK) prosurvival signaling pathways, resulting in elevated phosphorylation of the AKT target FOXO3a at T32 and BAD at S112, respectively. \"    ///    Expression of R18 effectively induced apoptosis in hematopoietic Ba/F3 cells transformed by ZNF198-FGFR1 compared with control cells. '), ('4662', 'TEL_MN1', 'inv (16)  / ', 'TEL', 'MN1', '19379599', '95', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'This article reviews the role of MN1 in acute myeloid leukemia including MN1 gene structure and action mechanism, MN1-TEL and AML with normal karyotype, MN1 and inv (16) AML, MN1 and retinoic ocid-resistance, and so on.. '), ('4663', 'MLL_AF4', 't(4;11) / ', 'MLL', 'AF4', '25793396', '95', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Genes that were affected in response to the repression of AF4-MLL showed significant enrichment in gene expression profiles associated with AF4-MLL expressing t(4;11)+ infant ALL patient samples.     ///    \"For this, we performed gene expression profiling after siRNA-mediated repression of MLL-AF4, MLL-ENL, and AF4-MLL in MLL-rearranged ALL cell line models. \"'), ('4664', 'ETO_AML1', 't(8;21)  / t(8;21) / ', 'ETO', 'AML1', '9865920', '95', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The AML1/ETO fusion protein, created by translocations between chromosomes 8 and 21 [t(8;21). '), ('4665', 'FOXE3_FOXD2', '6p25.3 / ', 'FOXE3', 'FOXD2', '15492844', '95', 'basal cell carcinoma;pancreatic cancer', '', '', '', '', '', 'Transcription_Factor', '', '', 'FOXE3-FOXD2 (1p33), FOXQ1-FOXF2-FOXC1 (6p25.3), and FOXF1-FOXC2-FOXL1 (16q24.1) loci are FOX gene clusters within the human genome. '), ('4666', 'MALT1_API2', 't(11;18)(q21;q21) / t(11;18) / ', 'MALT1', 'API2', '10702396', '95', 'MALT lymphoma;B cell lymphoma;lymphoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'All five cases that were shown to possess t(11;18)(q21;q21) showed the specific amplification of API2-MALT1 chimeric transcripts.     ///    \"Thus, the RT-PCR assay used here should serve as an effective molecular tool for understanding molecular pathogenesis and the clinical significance of API2-MALT1 for MALT lymphomas.. \"    ///    API2-MALT1 chimeric transcripts involved in mucosa-associated lymphoid tissue type lymphoma predict heterogeneous products.. '), ('4667', 'FLI1_ERG', 't(8;21)  / ', 'FLI1', 'ERG', '22983443', '95', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Here genome-wide analysis revealed that both ERG and FLI1 occupy similar genomic regions as AML1-ETO in t(8;21) AMLs and identified ERG/FLI1 as proteins that facilitate binding of oncofusion protein complexes.     ///    \"This intimate connection between ERG/FLI1 binding and H3 acetylation implies that one of the molecular strategies of oncofusion proteins, such as AML1-ETO and PML-RAR-?, involves the targeting of histone deacetylase activities to ERG/FLI1 bound hematopoietic regulatory sites. \"'), ('4668', 'RUNX1_ETO', 't(8;21) / ', 'RUNX1', 'ETO', '20583973', '95', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Among others, the RUNX1/ETO fusion protein, commonly found within acute myeloid leukemia cells carrying the translocation t(8;21), is currently intensively studied at the functional and structural level as well as in animal models.     ///    Molecular targeting of aberrant transcription factors in leukemia: strategies for RUNX1/ETO..     ///    With a special focus on RUNX1/ETO we will discuss recent strategies to directly interfere with aberrant transcription factors to block their leukemogenic function.. '), ('4669', 'TERT_CLPTM1L', '5p15.33 / ', 'TERT', 'CLPTM1L', '25027329', '95', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33.. '), ('4670', 'IGF2_H19', '11p15.5 / ', 'IGF2', 'H19', '18183302', '95', '', '', '', '', '', '', '', '', '', 'The present data suggest that the H19-IGF2 imprinting region on chromosome 11p15.5 is involved in the process through which undifferentiated cells are specified to become neuronal precursors and/or dopaminergic neurons.. '), ('4671', 'RS1_ZFP161', '18p11.21 / ', 'RS1', 'ZFP161', '9244432', '95', 'holoprosencephaly', '', '', '', '', '', '', '', '', 'The human gene ZFP161 on 18p11.21-pter encodes a putative c-myc repressor and is homologous to murine Zfp161 (Chr 17) and Zfp161-rs1 (X Chr).     ///    \"With DNAs from an interspecific backcross, two homologous mouse genes, Zfp161 and Zfp161-rs1, were mapped to chromosome 17 and the X chromosome, respectively. \"'), ('4672', 'TERT_CLPTM1L', '5p15.33 / ', 'TERT', 'CLPTM1L', '23555636', '95', 'lung cancer;adenocarcinoma\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', ' A recent genome-wide association study of lung cancer among never-smoking females in Asia demonstrated that the rs2736100 polymorphism in the TERT-CLPTM1L locus on chromosome 5p15.33 was strongly and significantly associated with risk of adenocarcinoma of the lung.     ///    Longer telomere length in peripheral white blood cells is associated with risk of lung cancer and the rs2736100 (CLPTM1L-TERT) polymorphism in a prospective cohort study among women in China.. '), ('4673', 'TAL1_SIL', 't(8;14) (q24;q11) / ', 'TAL1', 'SIL', '12130513', '95', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia;hematologic malignancy\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'SIL-TAL1 fusion was detected in association with HOX11 expression in one patient and with a t(8;14) (q24;q11) in another.     ///    SIL-TAL1/SCL fusion was detected in 6 patients. '), ('4674', 'MCC_APC', '3p21.3 / ', 'MCC', 'APC', '8462339', '95', 'lung cancer', '', '', '', 'Tumor_suppressor', '', '', '', '', 'Candidate tumor suppressor genes include those on chromosomes 1p, 1q, 3p14, 3p21.3, 3p25 (VHL gene), 5q21 (APC/MCC gene cluster), 9p21-22 (interferon gene cluster), 11p, 13q (rb gene), 16p24, and 17p (p53 gene). '), ('4675', 'MECOM_AML1', 't(3;21)  / ', 'MECOM', 'AML1', '12878208', '95', '', '', '', 'Oncogene', '', '', '', '', '', 'Here, we report that AML1/MDS1/EVI1 (AME), a repressor produced by the t(3;21) associated with human leukemia, physically interacts with the acetyltransferases P/CAF and GCN5.     ///    P/CAF and GCN5 acetylate the AML1/MDS1/EVI1 fusion oncoprotein.. '), ('4676', 'RIZ1_PRDM1', 't(1;3)(p36;q21) / ', 'RIZ1', 'PRDM1', '21516122', '95', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' MEL1 (MDS1/EVI1-like gene 1/PRDM16), which was identified as a gene near the chromosomal breakpoint in t(1;3)(p36;q21)-positive human acute myeloid leukemia cells, belongs to the PRDI-BF1-RIZ1 homologous (PR) domain (PRDM) family of transcription repressors. '), ('4677', 'RUNX1_ETO', 't(8;21)  / ', 'RUNX1', 'ETO', '26060100', '95', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'While RUNX1 activates the LIFR general promoter, the oncogenic RUNX1-ETO fusion protein generated by the t(8;21) translocation commonly associated with acute myeloid leukemia represses promoter activity. '), ('4678', 'OTT_MAL', 't(1;22)  / ', 'OTT', 'MAL', '18710951', '95', 'leukemia\r\r', '', '', '', '', '', '', '', '', ' The OTT-MAL/RBM15-MKL1 fusion protein is the result of the recurrent translocation t(1;22) in acute megakaryocytic leukemia in infants.     ///    \"OTT-MAL deregulation reflects its independence from control by G-actin, which fails to interact with OTT-MAL in coimmunoprecipitation experiments. \"    ///    \"OTT-MAL also caused a delayed induction of the MAL-independent, ternary complex factor-dependent target genes c-fos and egr-1 and the mitogen-activated protein kinase/Erk pathway. \"    ///    Our data suggest that the deregulated activation of MAL-dependent and -independent promoters results in tissue-specific functions of OTT-MAL..     ///    OTT-MAL is a deregulated activator of serum response factor-dependent gene expression..     ///    Here we demonstrate that OTT-MAL is a constitutive activator of SRF and target gene expression.     ///    \"With testing in heterologous tissue culture systems, however, we observed considerable antiproliferative effects of OTT-MAL. \"    ///    OTT-MAL localizes to the nucleus and is not regulated by upstream signaling. '), ('4679', 'RUNX1_ETV6', 't(4;11) / t(9;11)  / t(11;19)  / t(12;21)  / t(1;19)  / ', 'RUNX1', 'ETV6', '25137060', '95', 'leukemia\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'We validated GIPFEL for the five most common gene fusions associated with childhood leukemia (MLL-AF4, MLL-AF9, MLL-ENL, ETV6-RUNX1, and TCF3-PBX1). '), ('4680', 'DTNA_ASXL3', 't(2;8) / 2p23.3 / ', 'DTNA', 'ASXL3', '15138607', '95', 'myelodysplastic syndrome;neuroblastoma\r\r', '', '', '', '', '', '', '', '', 'ASXL3-DTNA locus at chromosome 18q12.1 and ASXL2-DTNB locus at 2p23.3 were paralogous regions within the human genome. '), ('4681', 'RBM15_MKL1', 't(1;22)  / ', 'RBM15', 'MKL1', '18710951', '95', 'leukemia\r\r', '', '', '', '', '', '', 'KB', 'Seq', ' The OTT-MAL/RBM15-MKL1 fusion protein is the result of the recurrent translocation t(1;22) in acute megakaryocytic leukemia in infants. '), ('4682', 'PML_RARA', 't(15;17)  / ', 'PML', 'RARA', '24711541', '95', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', ' Acute promyelocytic leukemia (APL) is epitomized by the chromosomal translocation t(15;17) and the resulting oncogenic fusion protein PML-RAR?. '), ('4683', 'ETO_AML1', 't(8;21)  / t(8;21) / ', 'ETO', 'AML1', '15731354', '95', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' The AML1-ETO fusion protein, generated by the t(8;21) in acute myeloid leukemia (AML), exerts dominant-negative functions and a variety of gains of function, including a positive effect on the growth of primary human CD34+ hematopoietic stem/progenitor cells.     ///    \"AML1-ETO fusion protein up-regulates TRKA mRNA expression in human CD34+ cells, allowing nerve growth factor-induced expansion.. \"'), ('4684', 'MALT1_API2', 't(11;18)(q21;q21) / ', 'MALT1', 'API2', '21273489', '95', '', '', '', '', '', '', '', '', '', 'We demonstrate that the API2-MALT1 fusion oncoprotein created by the recurrent t(11;18)(q21;q21) in mucosa-associated lymphoid tissue (MALT) lymphoma induces proteolytic cleavage of NF-?B-inducing kinase (NIK) at arginine 325.     ///    Cleavage of NIK by the API2-MALT1 fusion oncoprotein leads to noncanonical NF-kappaB activation.. '), ('4685', 'HLF_E2A', 't(17;19)  / t(17;19)(q21;p13) / t(17;19) / ', 'HLF', 'E2A', '16206189', '95', 'acute lymphoid leukemia', '', '', 'Oncogene', '', '', '', '', '', 'We identified ABCB1 (MDR1, P-glycoprotein) as a gene differentially expressed in ALL cell lines with and without E2A-HLF expression and demonstrated that t(17;19)+ ALL cell lines expressed high levels of ABCB1 protein and had a drug efflux-positive phenotype.     ///    ABCB1 over-expression and drug-efflux in acute lymphoblastic leukemia cell lines with t(17;19) and E2A-HLF expression..     ///    \" The t(17;19)(q21;p13), which occurs in a small subset of acute lymphoblastic leukemias (ALLs) and is associated with a dismal prognosis, creates a chimeric E2A-HLF transcription factor with transforming properties. \"    ///    \"Although ABCB1 transcription is regulated by C/EBPbeta via interaction with a DNA response element that shares significant homology with the optimal E2A-HLF binding site, E2A-HLF did not directly activate transcription of reporter genes under control of ABCB1 promoter elements in transient transfection assays. \"    ///    We used representational difference analysis to identify candidate E2A-HLF target genes.     ///    Transient transfection assays and an inducible expression model system were then used to evaluate the ability of E2A-HLF to modulate target gene expression.     ///    \"However, ABCB1 expression was induced in a DNA-binding independent manner by E2A-HLF, E2A-PBX1, and truncated E2A polypeptides consisting of those portions of E2A present in leukemic fusion proteins. \"'), ('4686', 'TERT_CLPTM1L', '5p15.33 / ', 'TERT', 'CLPTM1L', '25940397', '95', 'pancreatic cancer\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', ' A small number of common susceptibility loci have been identified for pancreatic cancer, one of which is marked by rs401681 in the TERT-CLPTM1L gene region on chromosome 5p15.33. '), ('4687', 'MIR206_MIR133b', '6p12.1 / ', 'MIR206', 'MIR133b', '22308266', '95', '', '', '', '', '', '', '', '', '', 'Interestingly, miR-1-1/miR-133a-2,?miR-1-2/miR-133a-1, and miR-206/miR-133b form clusters in three different chromosomal regions of the human genome - 20q13.33, 18q11.2 and 6p12.1, respectively.     ///    Here we review highlights of recent findings on the aberrant expression and functional significance of?the miR-1/miR-133a and miR-206/miR-133b clusters in human cancers.. '), ('4688', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '12592335', '95', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'A dose-dependent increase in H3 and H4 histone acetylation was noted in depsipeptide-treated AML1/ETO-positive Kasumi-1 cells and blasts from a patient with t(8;21) AML.     ///    \" In t(8;21) acute myeloid leukemia (AML), the AML1/ETO fusion protein promotes leukemogenesis by recruiting histone deacetylase (HDAC) and silencing AML1target genes important for hematopoietic differentiation. \"    ///    \"Depsipeptide (FR 901228) promotes histone acetylation, gene transcription, apoptosis and its activity is enhanced by DNA methyltransferase inhibitors in AML1/ETO-positive leukemic cells.. \"    ///    \"We hypothesized that depsipeptide (FR901228), a novel HDAC inhibitor evaluated in ongoing clinical trials, restores gene transcription and cell differentiation in AML1/ETO-positive cells. \"    ///    \"These two agents in combination resulted in enhanced histone acetylation, IL-3 expression, and cytotoxicity, suggesting HDAC and DNMT activities as a potential dual target in future therapeutic strategies for AML1/ETO and other molecular subgroups of AML.. \"'), ('4689', 'MYH11_CBFB', 't(9;22)  / inv(16)  / t(9;22) / inv(16)(p13q22) / ', 'MYH11', 'CBFB', '24724063', '95', 'acute myeloid leukemia;myeloid leukemia;leukemia;hematologic malignancy;hematologic malignancy\r\r', '', '', '', '', '', '', '', '', 'This study shows that observations of bone marrow morphology, initial and follow-up cytogenetic studies, and karyotyping of BCR/ABL1 and CBFB/MYH11 provide valuable information for characterizing hematologic malignancies exhibiting t(9;22) and inv(16) coexistence.. '), ('4690', 'LPP_HMGA2', '', 'LPP', 'HMGA2', '16821597', '94', 'liposarcoma;sarcoma\r\r', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'MRI characteristics of parosteal lipomas associated with the HMGA2-LPP fusion gene..     ///    The expression of HMGA2-LPP fusion transcripts was determined using the reverse transcription-polymerase chain reaction method.     ///    \"Since the HMGA2-LPP fusion transcripts are exclusively detectable in benign mesenchymal tumors, testing HMGA2-LPP expression may be useful for differential diagnosis in cases of radiologically-suspected well-differentiated liposarcomas.. \"    ///     The magnetic resonance (MR) characteristics of parosteal lipomas with the HMGA2-LPP fusion transcripts are described. '), ('4691', 'BCR_ABL1', '', 'BCR', 'ABL1', '24837466', '94', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The vast majority of chronic myeloid leukemia patients express a BCR-ABL1 fusion gene mRNA encoding a 210 kDa tyrosine kinase which promotes leukemic transformation.     ///    \"A possible differential impact of the corresponding BCR-ABL1 transcript variants e13a2 (\"\"b2a2\"\") and e14a2 (\"\"b3a2\"\") on disease phenotype and outcome is still a subject of debate. \"    ///    \"However, clinical outcome under imatinib treatment was comparable and no risk prediction can be made according to e13a2 versus e14a2 BCR-ABL1 transcript type at diagnosis. \"    ///    Distinct characteristics of e13a2 versus e14a2 BCR-ABL1 driven chronic myeloid leukemia under first-line therapy with imatinib.. '), ('4692', 'RET_PTC3', '', 'RET', 'PTC3', '22961909', '94', 'thyroid carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Our results reinforce the pathogenic role played by RET/PTC1, RET/PTC3, and PAX8-PPARG fusion genes in thyroid tumorigenesis.. '), ('4693', 'BCR_ABL1', '', 'BCR', 'ABL1', '25500442', '94', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The BCR-ABL1 fusion gene is the molecular marker of chronic myeloid leukemia (CML). '), ('4694', 'TACC3_FGFR3', '', 'TACC3', 'FGFR3', '25535896', '94', 'lung cancer\r\r', '', 'Kinase', '', '', '', '', '', '', 'In addition, we showed that the FGFR3-TACC3 fusion gene promotes cell proliferation, colony formation, and transforming ability in vitro, whereas the?FGFR3-TACC3 K508M mutant or treatment with the FGFR inhibitor PD173074 abrogates these effects, suggesting that FGFR3-TACC3 most likely exerts its effects through activation of FGFR kinase activity.     ///    Recurrent FGFR3-TACC3 fusion gene in nasopharyngeal carcinoma..     ///    \"Furthermore, we found certain new isoforms of the FGFR3-TACC3 fusion transcripts, such as a gene fusion between exon 18 of FGFR3 and exon 6 or exon 14 of TACC3 and agene fusion between exon 19 of FGFR3 and exon 11 of TACC3.\"    ///    \"Furthermore, we found certain new isoforms of the FGFR3-TACC3 fusion transcripts, such as a gene fusion between exon 18 of FGFR3 and exon 6 or exon 14 of TACC3 and agene fusion between exon 19 of FGFR3 and exon 11 of TACC3. \"    ///    \"In this study, for the first time, we found that fibroblast growth factor receptor 3-transforming acidic coiled-coil-containing protein 3 (FGFR3-TACC3) fusion transcripts are recurrently detected in NPC.\"    ///    \"In this study, for the first time, we found that fibroblast growth factor receptor 3-transforming acidic coiled-coil-containing protein 3 (FGFR3-TACC3) fusion transcripts are recurrently detected in NPC. \"    ///    \"Taken together, our data demonstrated the oncogenic role of FGFR3-TACC3 in vitro, indicating that FGFR3-TACC3 may be useful as a diagnostic marker and therapeutic target in cancers. \"    ///    \"Additionally, FGFR3-TACC3 could trigger activation of the ERK and Akt signaling pathways, whereas FGFR3-TACC3 K508M mutant could not, suggesting that these 2 signaling pathways might be involved in the function of FGFR3-TACC3. \"'), ('4695', 'PAX3_FKHR', 't(2;13)(q35,q14) /  / ', 'PAX3', 'FKHR', '10718207', '94', 'rhabdomyosarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The authors applied reverse transcriptase-polymerase chain reaction analysis (RT-PCR) to analyze tumor samples from 14 children with rhabdomyosarcoma for the presence of the chimeric PAX3-FKHR transcript resulting from the translocation t(2;13)(q35,q14).     ///    A sample from a patient with a diagnosis of embryonal rhabdomyosarcoma on presentation and expression of PAX3-FKHR fusion transcript yielded a small focus of alveolar rhabdomyosarcoma and was reclassified as alveolar rhabdomyosarcoma. '), ('4696', 'PAX3_FKHR', 't(11;22)  / t(2;13)  / t(2;13)(q35;q14) / ', 'PAX3', 'FKHR', '7887445', '94', 'rhabdomyosarcoma;ewing sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'By combining the PAX3/FKHR RT-PCR assay with primers for detection of the Ewing\'s sarcoma t(11;22) encoded EWS/FLI-1 chimeric transcript, we have developed a multiplex RT-PCR reaction that allows the rapid and accurate identification of either translocation in a biopsy sample..     ///    \"To define the morphological spectrum of childhood sarcomas that express the t(2;13) encoded PAX3/FKHR chimeric message, we have performed RT-PCR analysis on samples from 44 primary pediatric sarcomas and 8 sarcoma cell lines. \"    ///    \"Chimeric transcripts were detected in all cases with cytogenetic evidence of the (2;13) translocation, and in each case the chimeric PAX3/FKHR message had the identical junction sequence, suggesting that genomic chromosome breaks were clustered in a single intron in both genes. \"    ///    \"PAX3/FKHR chimeric messages were detected in 24 of 27 alveolar, 2 of 12 embryonal, and 0 of 1 pleomorphic rhabdomyosarcoma and in 1 of 2 ectomesenchymomas. \"'), ('4697', 'BCR_ABL1', '', 'BCR', 'ABL1', '23859904', '94', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Frequency of the ETV6-RUNX1, BCR-ABL1, TCF3-PBX1, and MLL-AFF1 fusion genes in Guatemalan pediatric acute lymphoblastic leukemia patients and their ethnic associations..     ///    \"This study assesses whether an ethnic influence has an effect on the frequency of any of the four fusion genes: BCR-ABL1, ETV6-RUNX1, TCF3-PBX1, and MLL-AFF1 found in ALL. \"    ///    We found 10 patients who had the BCR-ABL1 fusion gene (7%). '), ('4698', 'ETO_AML1', '', 'ETO', 'AML1', '17203951', '94', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The combined approach was used to follow the dynamics of H4 acetylation in Kasumi-1 cells harboring the fusion gene AML1/ETO shown to aberrantly recruit histone deacetylases (HDACs). '), ('4699', 'PAX7_FOXO1', '', 'PAX7', 'FOXO1', '19235922', '94', 'rhabdomyosarcoma', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'Characteristic genomic aberrations, including the PAX3- and PAX7-FOXO1 fusion genes in alveolar cases, have led to increased understanding of their molecular biology.     ///    \"Characteristic genomic aberrations, including the PAX3- and PAX7-FOXO1 fusion genes in alveolar cases, have led to increased understanding of their molecular biology.\"'), ('4700', 'RET_CCDC6', '', 'RET', 'CCDC6', '22961909', '94', 'thyroid carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We did a comprehensive screen for 548 known and putative fusion genes in 27 samples of thyroid tumors and three positive controls-one thyroid cancer cell line (TPC-1) and two PTCs with known CCDC6-RET (alias RET/PTC1) fusion gene, using this microarray. '), ('4701', 'FLI_EWS', 't(11;22)(q24;q12) / ', 'FLI', 'EWS', '10782405', '94', 'vulvar neoplasm', '', '', '', '', '', '', '', '', 'Genetically, the tumors expressed the EWS/FLI-1 chimeric transcript, derived from the t(11;22)(q24;q12) chromosomal translocation. '), ('4702', 'EML4_ALK', '', 'EML4', 'ALK', '17625570', '94', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Identification of the transforming EML4-ALK fusion gene in non-small-cell lung cancer..     ///    The EML4-ALK fusion transcript was detected in 6.7% (5 out of 75) of NSCLC patients examined. '), ('4703', 'TMPRSS2_ETV1', '', 'TMPRSS2', 'ETV1', '18451133', '94', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'At low frequency, TMPRSS2-ETV1 and TMPRSS2-ETV4 fusion genes have been described. '), ('4704', 'FLI_EWS', '', 'FLI', 'EWS', '15282325', '94', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'RNA interference targeted to the junction between EWS and FLI-1 sequences was used to inactivate the EWS/FLI-1 fusion gene in Ewing cells and to explore the resulting phenotype and alteration of the gene expression profile.     ///    Gene profiling of Ewing cells in which the EWS/FLI-1 fusion gene had been inactivated identified downstream targets which could be grouped in two major functional clusters related to extracellular matrix structure or remodeling and regulation of signal transduction pathways.     ///    EWS/FLI-1 silencing and gene profiling of Ewing cells reveal downstream oncogenic pathways and a crucial role for repression of insulin-like growth factor binding protein 3..     ///    \"Moreover, IGFBP-3 silencing can partially rescue the apoptotic phenotype caused by EWS/FLI-1 inactivation. \"    ///    We show that EWS/FLI-1 can bind the IGFBP-3 promoter in vitro and in vivo and can repress its activity.     ///    Loss of expression of EWS/FLI-1 resulted in the complete arrest of growth and was associated with a dramatic increase in the number of apoptotic cells.     ///    \"Among these targets, the insulin-like growth factor binding protein 3 gene (IGFBP-3), a major regulator of insulin-like growth factor 1 (IGF-1) proliferation and survival signaling, was strongly induced upon treating Ewing cells with EWS/FLI-1-specific small interfering RNAs. \"'), ('4705', 'HLF_E2A', '', 'HLF', 'E2A', '10518215', '94', '', '', '', 'Oncogene', '', '', '', '', '', ' The E2A-HLF fusion gene transforms human pro-B lymphocytes by interfering with an early step in apoptotic signaling.     ///    \"SLUG, a ces-1-related zinc finger transcription factor gene with antiapoptotic activity, is a downstream target of the E2A-HLF oncoprotein.. \"    ///    We conclude that SLUG is an evolutionarily conserved transcriptional repressor whose activation by E2A-HLF promotes the aberrant survival and eventual malignant transformation of mammalian pro-B cells otherwise slated for apoptotic death.. '), ('4706', 'TCF3_PBX1', '', 'TCF3', 'PBX1', '23859904', '94', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Frequency of the ETV6-RUNX1, BCR-ABL1, TCF3-PBX1, and MLL-AFF1 fusion genes in Guatemalan pediatric acute lymphoblastic leukemia patients and their ethnic associations..     ///    \"This study assesses whether an ethnic influence has an effect on the frequency of any of the four fusion genes: BCR-ABL1, ETV6-RUNX1, TCF3-PBX1, and MLL-AFF1 found in ALL. \"    ///    3 patients (2%) were TCF3-PBX1 positive. '), ('4707', 'EWSR1_CREB', '', 'EWSR1', 'CREB', '26165403', '94', 'histiocytoma', '', '', '', '', '', '', '', '', 'The EWSR1-CREB1 fusion gene detected in the tumor leads to continuous activation of CREB1 and IL-6 production, because the promoter region of IL-6 has a CREB binding site.     ///    Paraneoplastic Syndrome of Angiomatoid Fibrous Histiocytoma May Be Caused by EWSR1-CREB1 Fusion-induced Excessive Interleukin-6 Production.    ///    Paraneoplastic Syndrome of Angiomatoid Fibrous Histiocytoma May Be Caused by EWSR1-CREB1 Fusion-induced Excessive Interleukin-6 Production.. '), ('4708', 'SET_CAN', '', 'SET', 'CAN', '17296573', '94', 'acute myeloid leukemia;myeloid leukemia;leukemia;hematologic malignancy\r\r', '', '', '', '', '', '', '', '', 'The 9q34 deletion extends 2.5 megabases and juxtaposes the 5\' TAF-I to the 3\' CAN producing a TAF-I/CAN fusion gene.     ///    Cryptic chromosome 9q34 deletion generates TAF-Ialpha/CAN and TAF-Ibeta/CAN fusion transcripts in acute myeloid leukemia..     ///    TAF-I/CAN transcribes into two fusion proteins bearing either TAF-Ialpha or TAF-Ibeta moieties.     ///    \"We set up molecular assays to monitor the chimeric TAF-Ialpha/CAN and TAF-Ibeta/CAN transcripts which, after hematopoietic stem cell transplantation from an HLA-identical sibling, were no longer detected.. \"'), ('4709', 'KLK2_ETV4', '', 'KLK2', 'ETV4', '18451133', '94', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', '', 'In this study, we report two novel ETV4 fusion genes in prostate cancer: KLK2-ETV4 and CANT1-ETV4. '), ('4710', 'TMPRSS2_ETV4', '', 'TMPRSS2', 'ETV4', '18451133', '94', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'At low frequency, TMPRSS2-ETV1 and TMPRSS2-ETV4 fusion genes have been described. '), ('4711', 'MLL_AFF1', '', 'MLL', 'AFF1', '23859904', '94', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'Frequency of the ETV6-RUNX1, BCR-ABL1, TCF3-PBX1, and MLL-AFF1 fusion genes in Guatemalan pediatric acute lymphoblastic leukemia patients and their ethnic associations..     ///    \"This study assesses whether an ethnic influence has an effect on the frequency of any of the four fusion genes: BCR-ABL1, ETV6-RUNX1, TCF3-PBX1, and MLL-AFF1 found in ALL. \"'), ('4712', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '22961909', '94', 'thyroid carcinoma\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Our results reinforce the pathogenic role played by RET/PTC1, RET/PTC3, and PAX8-PPARG fusion genes in thyroid tumorigenesis..     ///    \"In the thyroid, the PAX8-PPARG fusion is present in the neoplastic lesions that have a follicular architecture-follicular thyroid carcinoma (FTC) and follicular variant of papillary thyroid carcinoma (FVPTC), and less frequently in follicular thyroid adenoma (FTA), while the presence of RET/PTC fusions are largely restricted to papillary thyroid carcinoma (PTC). \"'), ('4713', 'NPM_ALK', '', 'NPM', 'ALK', '18572809', '94', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Little is known about the clinical implications of subtypes of ALCL harboring each of the 7 fusion genes, especially those of variant fusion genes other than NPM-ALK. '), ('4714', 'TFE3_PSF', '', 'TFE3', 'PSF', '19809274', '94', 'renal cell carcinoma;melanoma\r\r', '', '', '', '', '', '', '', '', 'Melanotic Xp11 translocation renal cancer: a case with PSF-TFE3 gene fusion and up-regulation of melanogenetic transcripts..     ///    The morphologic and immunohistochemical discrepancies between this intriguing melanotic tumor and other documented renal cell carcinomas bearing identical PSF-TFE3 gene fusion may suggest melanotic Xp11 translocation renal cancer is a distinct entity among the MiT/TFE family neoplasms..     ///    \"Reverse transcription-polymerase chain reaction and validating sequencing demonstrated PSF-TFE3 gene fusion, a novel exon composition juxtaposing PSF exon 9 to TFE3 exon 5. \"'), ('4715', 'SUZ12_JAZF1', 't(7;17)(p15;q21) / t(6;7)(p21;p22) / ', 'SUZ12', 'JAZF1', '18722875', '94', 'endometrial stromal sarcoma;sarcoma\r\r', '', '', '', '', '', '', 'KB', '', 'Apart from the chromosomal rearrangement t(7;17)(p15;q21), which leads to the JAZF1/SUZ12 chimera, cytogenetic studies have shown that the chromosome band 6p21 is often rearranged in ESS.     ///    \"The predicted 684-amino acid JAZF1/PHF1 chimeric protein retained one zinc finger domain from JAZF1 and the two zinc finger domains from PHF1, and its oncogenic mechanism should be similar to that of the JAZF1/SUZ12 protein. \"'), ('4716', 'CYP1A1_CAT', '', 'CYP1A1', 'CAT', '7883754', '94', '', '', '', '', '', '', '', '', '', 'Removal of the NRE from the CYP1A1-CAT fusion gene resulted in about 3-fold increase of MC-inducible CAT activity. '), ('4717', 'ETO_AML1', '', 'ETO', 'AML1', '21316759', '94', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'For AML with AML1-ETO fusion gene, IDH1(mut) patients may have worse disease-free survival (DFS) than IDH1(wild-type) patients..     ///    \"The IDH1 mutations were associated with NPM1 mutations (P=0.043) and could coexist with recurrent transcription factor aberrations including AML1-ETO (6/50), PML-RAR? (3/77) and CBF?-MYH11 (1/15). \"'), ('4718', 'SYT_SSX2', 'p11.2;q11.2 / ', 'SYT', 'SSX2', '9311017', '94', 'synovial sarcoma;sarcoma;mesothelioma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Applying reverse transcriptase polymerase chain reaction (RT-PCR) analysis, the SYT-SSX2 chimeric gene transcripts that result from the translocation, t(X;18)(p11.2;q11.2), found in most synovial sarcomas could be demonstrated. '), ('4719', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '21924129', '94', 'hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Since the discovery of the involvement of deregulated tyrosine kinases in the pathophysiology of these diseases, and particularly the identification of the fusion gene FIP1L1-PDGFRA, new molecules inhibiting specifically this signaling pathway (imatinib) were individualized, leading to dramatic therapeutic benefits in proliferative forms of HES considered before that of very poor prognosis.     ///    [Durable efficacity and remission after treatment with imatinib mesylate for FIP1L1-PDGFRA transcript negative associated eosinophilic cardiomyopathy].. '), ('4720', 'TAZ_CAMTA1', '', 'TAZ', 'CAMTA1', '25961935', '94', 'epithelioid hemangioendothelioma;epithelioid hemangioendothelioma\r\r', '', '', '', '', '', '', '', '', ' The WWTR1 (protein is known as TAZ)-CAMTA1 (WC) fusion gene defines epithelioid hemangioendothelioma, a malignant vascular cancer.     ///    Here we demonstrate that TAZ-CAMTA1 (TC) fusion results in its nuclear localization and constitutive activation.     ///    Mechanism of action of a WWTR1(TAZ)-CAMTA1 fusion oncoprotein.. '), ('4721', 'FLI_EWS', 't(11;22)  / t(2;13)  / t(2;13)(q35;q14) / ', 'FLI', 'EWS', '7887445', '94', 'rhabdomyosarcoma;ewing sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'By combining the PAX3/FKHR RT-PCR assay with primers for detection of the Ewing\'s sarcoma t(11;22) encoded EWS/FLI-1 chimeric transcript, we have developed a multiplex RT-PCR reaction that allows the rapid and accurate identification of either translocation in a biopsy sample..     ///    We and others have previously demonstrated the diagnostic utility of a reverse transcriptase polymerase chain reaction (RT-PCR) assay for the detection of the t(11;22) encoded EWS/FLI-1 chimeric message in Ewing\'s sarcoma. '), ('4722', 'CTLA4_CD28', '', 'CTLA4', 'CD28', '27169444', '94', 'T cell leukemia;leukemia;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Among these, PLCG1, PRKCB, CARD11, VAV1, IRF4, CCR4, and CCR7 activating mutations and CTLA4-CD28 and ICOS-CD28 fusion genes have been identified. '), ('4723', 'EXPH5_COL1A2', '', 'EXPH5', 'COL1A2', '25576648', '94', 'colorectal cancer\r\r', '', '', '', '', '', '', '', '', 'Additionally, COL1A1-PPP2R2C and EXPH5-COL1A2 were observed fusion genes in cancer tissue. '), ('4724', 'EML4_ALK', '', 'EML4', 'ALK', '27066085', '94', 'non small cell lung cancer;squamous cell carcinoma;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'RNA-seq data identified oncogenic fusion genes EML4-ALK and SLC34A2-ROS1 in three of 86 normal-cancer paired samples. '), ('4725', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '21169414', '94', 'prostate cancer;prostatic intraepithelial neoplasia\r\r', '', '', '', '', '', '', 'KB', 'Seq', ' The TMPRSS2/ERG (T/E) fusion gene is present and thought to be an oncogenic driver of approximately half of all prostate cancers. '), ('4726', 'FUS_CHOP', '', 'FUS', 'CHOP', '21805478', '94', 'liposarcoma', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' Myxoid Liposarcomas (MLS), characterized by the expression of FUS-CHOP fusion gene are clinically very sensitive to the DNA binding antitumor agent, trabectedin.     ///    \"In 402-91 cells chromatin immunoprecipitation (ChIP) assays showed that FUS-CHOP was bound to the PTX3 and FN1 gene promoters, as previously described, and trabectedin caused FUS-CHOP detachment from DNA. \"    ///    \"Here we report that, in contrast, in 402-91/ET cells, FUS-CHOP was not bound to these promoters. \"'), ('4727', 'PEPCK_CAT', '', 'PEPCK', 'CAT', '8971075', '94', 'hepatoma\r\r', '', '', '', '', '', '', '', '', 'However, SB203580 has no effect on the ability of any of these agents to regulate PEPCK-CAT fusion gene expression. '), ('4728', 'BCR_ABL1', '', 'BCR', 'ABL1', '25389112', '94', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The decrease of Chibby1 (CBY1) contributes to ? catenin constitutive activation associated with the presence of the BCR-ABL1 fusion gene of chronic myeloid leukemia (CML).     ///    DNA methyltransferase 1 drives transcriptional down-modulation of ? catenin antagonist Chibby1 associated with the BCR-ABL1 gene of chronic myeloid leukemia.. '), ('4729', 'ESR1_RAF1', '', 'ESR1', 'RAF1', '9312114', '94', '', '', 'Kinase', '', '', 'Receptor', 'Transcription_Factor', '', '', 'To investigate the molecular nature underlying cellular responses to Raf-1 activation, we have stably transfected rat salivary epithelial Pa-4 cells with human Raf-1-estrogen receptor fusion gene (DeltaRaf-1:ER) and used mRNA differential display in search of messages induced by DeltaRaf-1:ER activation. '), ('4730', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '24468524', '94', 'prostate cancer;bladder cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', ' To investigate whether messenger ribonucleic acid (mRNA) expression of TMPRSS2-ERG fusion gene, a suggested prostate cancer (PCa) biomarker, was specific to cancerous lesions alone and to study the expression of SPINK1 and PCA3 mRNAs in the same cohort to also explore the proposed mutual exclusivity of TMPRSS2-ERG and SPINK1 expression.     ///    \"Expression of TMPRSS2-ERG transcripts was detected in 45 of 88 (51%) HBP tissues from RP specimens and more frequently (57 of 86, 66%) found in cancerous lesions. \"    ///    \"Levels of 2 TMPRSS2-ERG transcripts, PCA3, and SPINK1 mRNAs were measured with highly standardized reverse transcription quantitative polymerase chain reaction assays in cystoprostatectomy specimens from 19 patients with invasive bladder cancer and 174 radical prostatectomy (RP) samples (88 histologically benign prostate [HBP] tissues and 86 from cancerous lesions) from 87 patients with clinically localized PCa. \"    ///    \"In contrast, TMPRSS2-ERG expression was detected in only 2 of 19 (11%) cystoprostatectomy specimens, both with incidental PCa foci elsewhere in the gland. \"    ///    \"Cancer-associated changes in the expression of TMPRSS2-ERG, PCA3, and SPINK1 in histologically benign tissue from cancerous vs noncancerous prostatectomy specimens.. \"    ///    \"Although the expression of TMPRSS2-ERG, SPINK1, and PCA3 mRNA is higher or more frequently found in cancerous lesions, HBP tissues from patients with clinically localized PCa manifest molecular, mRNA level changes that are absent in cystoprostatectomy specimens lacking incidental PCa foci or infrequent in cystoprostatectomy specimens containing incidental PCa. \"'), ('4731', 'PENK_BGAL11', '', 'PENK', 'BGAL11', '8170480', '94', '', '', '', '', '', '', '', '', '', 'This model, which uses a human proenkephalin-beta-galactosidase fusion gene, readily permits anatomic and cellular colocalization of stress-regulated immediate early gene products (e.g. '), ('4732', 'GRIA2_GLRB', '', 'GRIA2', 'GLRB', '22669415', '94', 'hyperekplexia', '', '', '', '', '', '', '', '', 'We assume that either haploinsufficiency of GRIA2 or a GLRB/GRIA2 fusion gene leading to a protein with dominant-negative properties is causing the phenotype of the patient.. '), ('4733', 'SLC12A1_LEO1', '', 'SLC12A1', 'LEO1', '20196086', '94', 'oligodendroglioma\r\r', '', '', '', '', '', '', '', '', 'Integrated genomic profiling identifies candidate genes implicated in glioma-genesis and a novel LEO1-SLC12A1 fusion gene.. '), ('4734', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '23859904', '94', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'This study assesses whether an ethnic influence has an effect on the frequency of any of the four fusion genes: BCR-ABL1, ETV6-RUNX1, TCF3-PBX1, and MLL-AFF1 found in ALL.     ///    The low incidence of the ETV6-RUNX1 fusion gene found in Guatemala matches the incidence rates that have been reported in Spain and Indian Romani.     ///    \"Frequency of the ETV6-RUNX1, BCR-ABL1, TCF3-PBX1, and MLL-AFF1 fusion genes in Guatemalan pediatric acute lymphoblastic leukemia patients and their ethnic associations.. \"    ///    and 6 patients (4.5%) were ETV6-RUNX1 positive. '), ('4735', 'SSX1_SS18', '', 'SSX1', 'SS18', '25959879', '94', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', 'KB', '', 'Detection of Rare Variant of SS18-SSX1 Fusion Gene and Mutations of Important Cancer-Related Genes in Synovial Sarcoma of the Lip: Gene Analyses of a Case and Literature Review..     ///    \"As a result, a rare variant of the SS18-SSX1 fusion transcript, which could not be identified by routine procedures for genetic diagnosis, was detected. \"'), ('4736', 'PTD_MLL', '', 'PTD', 'MLL', '22391156', '94', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The fusion gene of MLL-PTD and MLL plays a critical role in the pathogenesis of these AML.     ///    \"25 patients with de novo AML-M4 or M5 with normal karyotypes excluding M4eo and MLL fusion gene or MLL-PTD were selected, the amplification and direct sequencing analysis of full length MLL gene exons were carried out, then the mutations found were verified at genomic DNA level. \"'), ('4737', 'CD5_CD10', 't(8;14) (q24;32) / t(12;17) (q24;q21) / ', 'CD5', 'CD10', '12720160', '94', 'plasma cell neoplasm', '', '', '', '', '', '', '', '', 'These cells are CD5(-)CD10(+)CD19(+)CD20(+)CD22(+) and have t(8;14) (q24;32), t(12;17) (q24;q21), 2p-. '), ('4738', 'SET_CAN', '', 'SET', 'CAN', '14671643', '94', 'leukemia\r\r', '', '', '', '', '', '', '', '', ' Human SET encodes a nuclear phosphoprotein with a highly acidic carboxyl-terminus, forming a SET-CAN fusion gene in a patient with acute undifferentiated leukemia.     ///    \"Even though SET is involved in chromatin remodeling and transcriptional activation, its precise role in hematopoietic cells and the contribution of SET-CAN to leukemogenesis remains unknown. \"    ///    \"We determined the effect of tetracycline-regulatable expression of SET, a deletion mutant of SET, and SET-CAN on the human promonocytic cell line U937T. \"    ///    Effects of SET and SET-CAN on the differentiation of the human promonocytic cell line U937..     ///    \"SET-CAN most likely inhibits growth by interfering with hCRM1, but it also partially blocks differentiation. \"    ///    The expression of SET and SET-CAN inhibited proliferation of these cells. ');
