INSERT INTO `ChimerPub_dump` VALUES ('3398', 'NHL_MCL', 't(14;18) / t(11;14) / ', 'NHL', 'MCL', '7888829', '110', 'non Hodgkin lymphoma;non Hodgkin lymphoma;follicular lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Recent cytogenetic and molecular biologic analyses indicate that these differences may result from distinct genetic abnormalities such as the translocation t(14;18), which is frequently observed in FL-NHL and is associated with a bcl-2 overexpression and inhibition of apoptosis, or the deregulation of PRAD1 in MCL-NHL induced by the translocation t(11;14). '), ('3399', 'RET_CSGALNACT2', '', 'RET', 'CSGALNACT2', '24548782', '110', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'We further identified two novel fusion genes in pHGG - CSGALNACT2:RET and the complex fusion DHX57:TMEM178:MAP4K3. '), ('3400', 'TSNAX_DISC1', 't(1;11)  / ', 'TSNAX', 'DISC1', '15838535', '110', '', '', '', '', '', '', '', '', '', ' The Translin-associated factor X/Disrupted in Schizophrenia 1 (TRAX/DISC) region was first implicated as a susceptibility locus for schizophrenia by analysis of a large Scottish family in which a t(1;11) translocation cosegregates with schizophrenia, bipolar disorder and recurrent major depression. '), ('3401', 'NUP98_HOXA9', '11p15.5 / t(7;11)(p15;p15) / ', 'NUP98', 'HOXA9', '17442773', '110', 'acute myeloid leukemia;chronic myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'NUP98-HOXA9 is associated with the t(7;11)(p15;p15) translocation in acute myeloid leukemia (AML), myelodysplastic syndrome, and blastic crisis of chronic myeloid leukemia.     ///    Expression of NUP98-HOXA9 in murine bone marrow resulted in a myeloproliferative disease progressing to AML by 7-8 months.     ///    NUP98-HOXA9 expression inhibited erythroid and myeloid differentiation but enhanced serial progenitor replating.     ///    \"NUP98-HOXA9 upregulated a number of homeobox genes of the A and B cluster as well as MEIS1 and Pim-1, and downmodulated globin genes and C/EBPalpha. \"    ///    The HOXA9 component of the NUP98-HOXA9 fusion protein was protected from cullin-4A-mediated ubiquitination and subsequent proteasome-dependent degradation. '), ('3402', 'P2RY8_CRLF2', 'p22;q32 / p11;q32 / ', 'P2RY8', 'CRLF2', '20847213', '110', '', '', '', '', '', 'Receptor', '', '', '', 't(X;14)(p22;q32)/t(Y;14)(p11;q32) CRLF2-IGH translocations from human B-lineage ALLs involve CpG-type breaks at CRLF2, but CRLF2/P2RY8 intrachromosomal deletions do not.. '), ('3403', 'MALT1_API2', 't(11;18) (q21;q21) / t(3;14) (p14;q32) / ', 'MALT1', 'API2', '19999120', '110', 'MALT lymphoma;B cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'The chromosomal translocation t(11;18) (q21;q21)/API2-MALT1 has been frequently detected not only in gastric MALT lymphoma cases, but also in gastric diffuse large B-cell lymphoma (DLBCL) cases in two studies. '), ('3404', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '19176061', '110', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'It is necessary to dynamic monitoring AML1-ETO mRNA after remission in t(8;21) AML patients..     ///    [Monitoring AML1-ETO mRNA levels by real-time quantitative RT-PCR in t(8;21) acute myeloid leukemia patients after hematopoietic stem cell transplantation]..     ///    Quantification of AML1-ETO(+) mRNA was performed serially on bone marrow samples from 17 patients with AML1-ETO(+) AML after HSCT.     ///    The AML1-ETO mRNA level was normalized by control gene abl.     ///    \"The median AML1-ETO mRNA levels in the rest of 14 CCyR patients were 0 (0 - 0.740), 0.026 (0 - 2.900), 0.039 (0 - 3.300) at +1, +2, +3 month post allo-HSCT, respectively and in 5 CCyR patients beyond 1 year following allo-HSCT (median follow-up 685 days) was 0.078 (0.003 - 0.120). \"    ///    \"The AML1-ETO mRNA levels in one relapsed patient were 0, 9.8 and 5.6 at +1, +2 and +3 month post allo-HSCT, respectively and hematological relapse occurred at +110 day, when the AML1-ETO mRNA levels increased dramatically from 5.600 to 390.000. \"    ///     To evaluate the value of real time quantitative RT-PCR (Q-PCR) for monitoring AML1-ETO mRNA levels in AML1-ETO(+) acute myeloid leukemia (AML) patients following allogeneic hematopoietic stem cell transplantation (allo-HSCT).     ///    Q-PCR is a sensitive technique in monitoring AML1-ETO(+) AML patients post allo-HSCT. '), ('3405', 'ZNF198_FGFR1', 't(5;12)  / t(8;13)  / ', 'ZNF198', 'FGFR1', '19644140', '110', 'leukemia\r\r', '', 'Kinase', '', '', '', '', 'KB', '', 'TEL-PDGFRbeta (TPbeta, also called ETV6-PDGFRB) is a hybrid protein produced by the t(5;12) translocation, FIP1L1-PDGFRalpha (FPalpha) results from a deletion on chromosome 4q12 and ZNF198-FGFR1 is created by the t(8;13) translocation.     ///    \"In contrast to the corresponding wild-type receptors, which are quickly degraded upon activation, we observed that TPbeta, FPalpha and the ZNF198-FGFR1 hybrids escaped down-regulation in Ba/F3 cells. \"'), ('3406', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '15152269', '110', '', '', '', '', '', '', '', '', '', 'Taken together, these results suggest that expression of AML1-ETO selectively inhibits the differentiation of granulocytic cells and promoted extensive self-renewal, supporting a causal role for t(8;21) translocations in leukaemogenesis..     ///    \" The t(8;21) translocation is one of the most frequent translocations in acute myeloid leukaemia (AML), giving rise to the AML1-ETO fusion protein (or RUNX1-CBF2T1). \"    ///    \"In support of this, cultures expressing AML1-ETO demonstrated enhanced retention of colony-forming capacity. \"    ///    \"Here, we demonstrate that when expressed in a normal human (CD34(+)) progenitor population, AML1-ETO selectively inhibits granulocyte colony formation but not monocyte colony formation. \"    ///    \"In bulk liquid culture, we found that though AML1-ETO transiently inhibited the proliferation of CD34(+) cells, it promoted long-term growth of myeloid cells for more than 80 days, suggesting that differentiation was inhibited. \"    ///    \"In contrast, AML1-ETO had little or no effect on monocytic differentiation. \"    ///    Phenotypic examination of AML1-ETO cultures revealed a defect in granulocytic differentiation in terms of retention of CD34(+) cells within the culture and delayed CD11b upregulation.     ///    Expression of AML1-ETO in human myelomonocytic cells selectively inhibits granulocytic differentiation and promotes their self-renewal.. '), ('3407', 'BCR_ABL1', 't(9;22;13)  / ', 'BCR', 'ABL1', '15160927', '110', 'enchondromatosis;Ollier disease', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Cytogenetic and molecular investigations showed a complex Philadelphia translocation t(9;22;13) (q34;q11.2;q12), with predominance of ela2 BCR/ABL splicing and deletion of reciprocal der(9) ABL/BCR locus, all suggesting poor prognosis. '), ('3408', 'IDH2_IDH1', 't(1;19)  / ', 'IDH2', 'IDH1', '20427748', '110', '', '', '', 'Oncogene', '', '', '', '', '', 'Perhaps the IDH1/IDH2 mutation is a prerequisite for the occurrence of the t(1;19) translocation, or it is required for the 1p19q codeleted cells to acquire a tumor phenotype..     ///    \"This 100% mutation rate contrasted strikingly with other gliomas exhibiting either variable 1p and 19q alterations (n = 159, IDH1/IDH2 mutation rate of 33%) or no 1p19q alteration (n = 477, IDH1/IDH2 mutation rate 32%). \"    ///    \"Moreover, in WHO grade II and III gliomas, 3 groups with significantly different outcomes were identified according to their 1p19q and IDH1/IDH2 statuses. \"    ///    Our data also confirm the prognostic impact of IDH1/IDH2 mutation in gliomas whatever grade considered: patients harboring mutations of IDH1/IDH2 have an improved median overall survival. '), ('3409', 'JAK2_BCR', 't(9;22) / p24;q11.2 / ', 'JAK2', 'BCR', '25833723', '110', 'myelodysplastic syndrome', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Here we report a t(9;22)(p24;q11.2) translocation, in a MDS patient and review results associated with BCR-JAK2 fusion reported in the literature.     ///    \"Myelodysplastic syndrome with t(9;22)(p24;q11.2), a BCR-JAK2 fusion: case report and review of the literature.. \"'), ('3410', 'MALT1_API2', 't(11;18)(q21;q21) / ', 'MALT1', 'API2', '23770847', '110', '', '', '', '', '', '', '', '', '', ' The API2-MALT1 fusion oncoprotein is created by the recurrent t(11;18)(q21;q21) chromosomal translocation in mucosa-associated lymphoid tissue (MALT) lymphoma.     ///    \"Furthermore, we found that TNF receptor-associated factor 2 (TRAF2) recruitment is required for API2-MALT1 to induce RIP1 ubiquitination, NF-?B activation and cellular transformation. \"    ///    \"API2-MALT1 promotes ubiquitination of RIP1 at lysine (K) 377, which is necessary for full NF-?B activation. \"    ///    The API2-MALT1 fusion exploits TNFR pathway-associated RIP1 ubiquitination to promote oncogenic NF-?B signaling.. '), ('3411', 'RARA_PLZF', 't(11;17)  / t(15;17)  / ', 'RARA', 'PLZF', '8622986', '110', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', ' Promyelocytic leukemia zinc finger-retinoic acid receptor a (PLZF-RARalpha), a fusion receptor generated as a result of a variant t(11;17) chromosomal translocation that occurs in a small subset of acute promyelocytic leukemia (APL) patients, has been shown to display a dominant-negative effect against the wild-type RARalpha/retinoid X receptor alpha (RXRalpha). '), ('3412', 'TEL_AML1', 't(12;21)  / t(12;21) / ', 'TEL', 'AML1', '17673463', '110', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'c-MET was found to be expressed in normal B cells and in B-ALL patients with the t(12;21) TEL-AML1 translocation, but it is not expressed in the most part of B-ALL without the t(12;21).     ///    Hepatocyte growth factor receptor c-MET is associated with FAS and when activated enhances drug-induced apoptosis in pediatric B acute lymphoblastic leukemia with TEL-AML1 translocation..     ///    The possible role of this protein complex in drug-induced apoptosis was thus investigated in REH TEL-AML1 B-ALL cell line.     ///    \"These results indicate that c-MET activation enhances specifically FAS-mediated apoptosis in TEL-AML1 ALL cells and, considering that the c-MET/FAS complex is present only in normal B lymphocytes and in TEL-AML1 leukemias, this implies that it may have an important contribution in cellular homeostasis and in high sensitivity of TEL-AML1 ALL to chemotherapeutic regimens.. \"    ///    \"We also found that c-MET, related to proliferation and protection from apoptosis, is associated with the pro-apoptotic protein FAS in TEL-AML1 B-ALL cells and in normal B lymphocytes. \"'), ('3413', 'TEL_AML1', 't(12;21)(p13;q22) / ', 'TEL', 'AML1', '21740486', '110', '', '', '', '', '', '', '', '', '', 'Recently, we found RAG-dependent recombination in the hotspots of TEL-AML1 t(12;21)(p13;q22) chromosomal translocation by an extrachromosomal recombination assay. '), ('3414', 'HLF_E2A', 't(17;19)  / ', 'HLF', 'E2A', '26588248', '110', 'leukemia\r\r', '', '', 'Oncogene', '', '', '', '', '', 'To address this, we engineered mouse strains that conditionally express E2A-HLF, a fusion oncogene from the translocation t(17;19) associated with 1% of pediatric B-cell precursor ALL.     ///    \"E2A-HLF/Mb1.Cre aged mice developed a fatal myeloproliferative-like disorder with low frequency characterized by leukocytosis, anemia, hepatosplenomegaly and organ-infiltration by mature myelocytes. \"    ///    \"Increased cell death was detected in E2A-HLF expressing cells, suggesting the need for cooperating genetic events that suppress cell death for B-cell oncogenic transformation. \"    ///    \"E2A-HLF expression in B-cell progenitors induced hyposplenia and lymphopenia, whereas expression in hematopoietic stem/progenitor cells was embryonic lethal. \"    ///    Conditional Expression of E2A-HLF Induces B-Cell Precursor Death and Myeloproliferative-Like Disease in Knock-In Mice..     ///    \"In conclusion, we have developed conditional E2A-HLF knock-in mice, which provide an experimental platform to study cooperating genetic events and further elucidate translational biology in cross-species comparative studies. \"'), ('3415', 'BCR_ABL1', 't(9;22) / ', 'BCR', 'ABL1', '23475624', '110', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL) is characterized by expression of oncogenic fusion product BCR-ABL1, resulting from reciprocal translocation between chromosomes 9 and 22 [t(9;22)(q34;q11.2)]. '), ('3416', 'PDGFRB_ETV6', 't(5;12)  / t(8;13)  / ', 'PDGFRB', 'ETV6', '19644140', '110', 'leukemia\r\r', '', 'Kinase', '', '', 'Receptor', '', 'KB', '', 'TEL-PDGFRbeta (TPbeta, also called ETV6-PDGFRB) is a hybrid protein produced by the t(5;12) translocation, FIP1L1-PDGFRalpha (FPalpha) results from a deletion on chromosome 4q12 and ZNF198-FGFR1 is created by the t(8;13) translocation. '), ('3417', 'ZMYND11_MBTD1', 'p15;q21 / ', 'ZMYND11', 'MBTD1', '23915195', '110', 'myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Recurrent translocation (10;17)(p15;q21) in acute poorly differentiated myeloid leukemia likely results in ZMYND11-MBTD1 fusion.. '), ('3418', 'TEL_AML1', 't(12;21)  / t(12;21)(p13;q22) / ', 'TEL', 'AML1', '8609706', '110', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', '', '', '', '', '', '', '', '', 'TEL/AML1 fusion resulting from a cryptic t(12;21) is the most common genetic lesion in pediatric ALL and defines a subgroup of patients with an excellent prognosis..     ///    \"We now demonstrate that a TEL/AML1 chimeric transcript encoded by a cryptic t(12;21) is observed in 22% of pediatric ALL, making it the most common genetic lesion in these patients. \"    ///    \"Moreover, TEL/AML1 expression defined a distinct subgroup of patients characterized by an age between 1 and 10 years, B lineage immunophenotype, non-hyperdiploid DNA content and an excellent prognosis. \"'), ('3419', 'NUP98_NSD1', 't(5;11) / ', 'NUP98', 'NSD1', '25301331', '110', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', ' In this issue of Blood, Ostronoff et al report a low remission rate in acute myeloid leukemia (AML) patients coexpressing FLT3/ITD and cryptic translocation t(5;11)(q35;p15.5), known as NUP98/NSD1.. '), ('3420', 'ETO_AML1', 't(8;21) / t(8;21)  / ', 'ETO', 'AML1', '16254134', '110', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Analyses of genetic subgroups showed that KIT-D816 mutations were associated with t(8;21)/AML1-ETO and other rare AML1 translocations. '), ('3421', 'RUNX1_ETO', 't(8;21)  / ', 'RUNX1', 'ETO', '16799637', '110', 'leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' The t(8;21) chromosomal translocation that generates the fusion oncoprotein RUNX1-ETO predominates in leukemia patients of the French-American-British (FAB) class M2 subtype.     ///    \"DEP and the HSP90 antagonist 17-allylamino-geldanamycin (17-AAG) both triggered RUNX1-ETO degradation, but without any additive or cooperative effects. \"    ///    \"Here, we show that RUNX1-ETO undergoes degradation in response to treatment with histone deacetylase inhibitors, one of which, depsipeptide (DEP), is currently undergoing phase II clinical testing in a variety of malignancies. \"    ///    These compounds induce turnover of RUNX1-ETO without affecting the stability of RUNX1-ETO partner proteins.     ///    \"In addition, RUNX1-ETO physically interacts with heat shock protein 90 (HSP90). \"    ///    DEP treatment interrupts the association of RUNX1-ETO with HSP90 and induces proteasomal degradation of RUNX1-ETO. '), ('3422', 'BCR_ABL1', 't(9;22)  / ', 'BCR', 'ABL1', '23906450', '110', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', '(3) Cox proportion hazard regression model analysis indicated that age of 14-18 years old and BCR- ABL translocation or t(9;22) were independent risk prognostic factor for 5-year EFS. '), ('3423', 'LCT_CTCL', 't(2;5)(p23;q35) / t(2;5) (p23;q35) / t(2;5)  / ', 'LCT', 'CTCL', '9274957', '110', 'anaplastic large cell lymphoma;T cell lymphoma;lymphoma\r\r', 'PCR', '', '', '', '', '', '', '', 'To determine whether acquisition of this chromosomal translocation is involved in the pathogenesis of LCT in CTCL, we examined 12 tumor samples from 9 CTCL patients, including 8 with LCT-CTCL and one with concurrent CTCL and Hodgkin\'s disease, for the presence of the t(2;5) translocation.     ///    Numerous CD30+ large cells were present in 4 LCT-CTCL consistent with secondary CD30+ ALCL. '), ('3424', 'MAML2_CRTC1', 't(11;19)  / ', 'MAML2', 'CRTC1', '19185385', '110', 'mucoepidermoid carcinoma\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Although not documented in these reports, MEC of the lung may harbor a t(11;19) translocation with an associated novel fusion oncogene (CRTC1-MAML2).     ///    \"In vitro data has shown that MEC cell-lines with t(11;19) are sensitive to gefitinib and that this may be mediated by the action of CRTC1-MAML2 in up-regulating the EGFR ligand, amphiregulin. \"    ///    \"As such, it may be speculated that MEC from lung and salivary glands expressing CRTC1-MAML2 present a valid target for treatment with gefitinib, even in the absence of sensitizing EGFR mutations. \"    ///    Gefitinib as targeted therapy for mucoepidermoid carcinoma of the lung: possible significance of CRTC1-MAML2 oncogene.. '), ('3425', 'TEL_AML1', 't(12;21) / t(4;11) / t(9;22) / t(1;19) / ', 'TEL', 'AML1', '15387886', '110', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'There are numerous known genetic prognostic variables in ALL, which include T cell ALL, the hyperdiploid karyotype and the translocations: t(12;21)[TEL-AML1], t(4;11)[MLL-AF4], t(9;22)[BCR-ABL], and t(1;19)[E2A-PBX]. '), ('3426', 'RUNX1T1_RUNX1', 't(8;21) / t(8;21) (q22;q22) / t(8;21)  / inv(16) / t(16;16)  / ', 'RUNX1T1', 'RUNX1', '24973361', '110', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Frequent ASXL2 mutations in acute myeloid leukemia patients with t(8;21)/RUNX1-RUNX1T1 chromosomal translocations.. '), ('3427', 'EWSR1_ATF1', 't(12;22)  / ', 'EWSR1', 'ATF1', '23426715', '110', 'sarcoma\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Angiosarcoma of the parotid gland with a t(12;22) translocation creating a EWSR1-ATF1 fusion: a diagnostic dilemma.. '), ('3428', 'NUT_BRD4', 't(15;19)  / ', 'NUT', 'BRD4', '23128391', '110', '', 'PCR', 'Kinase', '', '', '', '', 'KB', '', ' Nuclear protein in testis (NUT)-midline carcinoma (NMC) is a rare, aggressive disease typically presenting with a single t(15;19) translocation that results in the generation of a bromodomain-containing protein 4 (BRD4)-NUT fusion.     ///    \"Thus, the generation of BRD4-NUT fusion transcripts through post-translocation RNA-splicing appears to be a common feature of these carcinomas that has not previously been appreciated, with the mechanism facilitating the expression of alternative isoforms of the fusion. \"    ///    Novel BRD4-NUT fusion isoforms increase the pathogenic complexity in NUT midline carcinoma..     ///    These data demonstrate that the novel BRD4-NUT fusion in PER-624 encodes a functional protein that is central to the oncogenic mechanism in these cells. '), ('3429', 'YAP1_TFE3', '', 'YAP1', 'TFE3', '25879300', '110', 'ductal carcinoma\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'The WW domain-containing transcription regulator 1-calmodulin-binding transcription activator 1 (WWTR1-CAMTA1) fusion gene, resulting in the overexpression of CAMTA1, is demonstrated in approximately 90% of EHEs, and the yes-associated protein 1-transcription factor E3 (YAP1-TFE3) fusion gene, associated with the strong and diffuse nuclear expression of TFE3, is present in another small subset of EHEs. '), ('3430', 'IRF4_BCL2', 't(6;14;18)(p25;q32;q21) / t(14;18)(q32;q21) / t(8;22) / ', 'IRF4', 'BCL2', '23995111', '110', 'leukemia\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Double-hit lymphoma demonstrating t(6;14;18)(p25;q32;q21), suggesting two independent dual-hit translocations, MYC/BCL-2 and IRF4/BCL-2..     ///    \" Here, we report a rare case of double-hit lymphoma, demonstrating t(6;14;18)(p25;q32;q21), suggesting two independent dual-translocations, c-MYC/BCL-2 and IRF4/BCL-2. \"    ///    \"The present rare case arouses interest in view of the possible \"\"dual\"\" activation of both c-MYC and MUM1/IRF4 through two independent dual-translocations, c-MYC/BCL-2 and IRF4/BCL-2.. \"'), ('3431', 'ETO_AML1', 't(15;17)  / t(8;21)  / t(9;22)  / ', 'ETO', 'AML1', '22714999', '110', 'chronic myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The t(15;17) which generates PML-RAR?, t(8;21) that produces AML1-ETO, and t(9;22) which generates BCR-ABL are the three most frequently seen chromosomal translocations in myeloid leukemia. '), ('3432', 'RAR_PML', 't(15;17)  / ', 'RAR', 'PML', '22237204', '110', '', '', '', 'Oncogene', '', '', '', '', '', ' The promyelocytic leukaemia gene PML was originally identified at the t(15;17) translocation of acute promyelocytic leukaemia, which generates the oncogene PML-retinoic acid receptor ?. '), ('3433', 'NPM_ALK', 't(2;5) / ', 'NPM', 'ALK', '11266530', '110', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Subsequently, a characteristic cytogenetic abnormality was identified, the t(2;5), that led to identification of the genes involved in the translocation (NPM/ALK) and insights into the pathogenesis. '), ('3434', 'PAX3_FKHR', 't(2;13)(q35;q14) / t(1;13)(p36;q14) / t(2;13)  / t(2;13) / t(1;13) / ', 'PAX3', 'FKHR', '9405676', '110', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'High expression of these prs-9-regulated genes was also observed in a cancer cell line that lacks t(2;13) but was stably transfected with a plasmid expressing PAX3-FKHR.     ///    \"The chimeric proteins expressed from these rearrangements, PAX3-FKHR and PAX7-FKHR, respectively, are potent transcriptional activators. \"'), ('3435', 'BCR_ABL1', 't(9;22)  / ', 'BCR', 'ABL1', '25814077', '110', 'myeloproliferative disorder\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'This disease is characterised by a reciprocal t(9;22) chromosomal translocation, resulting in the formation of the Philadelphia (Ph) chromosome containing the BCR-ABL1 gene.     ///    \"As such, diagnosis and monitoring of disease involves detection of BCR-ABL1. \"    ///    The cell biology of CML is also centred on BCR-ABL1.     ///    \"The presence of BCR-ABL1 can explain virtually all the cellular features of the leukaemia (enhanced cell growth, inhibition of apoptosis, altered cell adhesion, growth factor independence, impaired genomic surveillance and differentiation). \"    ///    \"It is the BCR-ABL1 protein, in particular its constitutively active tyrosine kinase activity, that forges the pathogenesis of CML. \"'), ('3436', 'SYT_SSX', '', 'SYT', 'SSX', '12133991', '110', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' To investigate the immunogenic property of peptides derived from the synovial sarcoma-specific SYT-SSX fusion gene, we synthesized four peptides according to the binding motif for HLA-A24.     ///    Tetramer analysis indicated that the increased CTLp frequency to the SYT-SSX was associated with pulmonary metastasis in synovial sarcoma patients (p < 0.03).     ///    These findings suggest that aberrantly expressed SYT-SSX gene products have primed SYT-SSX-specific CTLps in vivo and increased their frequency in synovial sarcoma patients.     ///    The identification of SYT-SSX peptides may offer an opportunity to design peptide-based immunotherapeutic approaches for HLA-A24(+) patients with synovial sarcoma..     ///    These peptides were tested for their reactivity with CTL precursors (CTLps) in 16 synovial sarcoma patients using HLA-A24/SYT-SSX peptide tetramers and also for induction of specific CTLs from four HLA-A24(+) synovial sarcoma patients.     ///    \"CTLs were induced from PBLs of two synovial sarcoma patients using the peptide mixture of SS391 and SS393, which lysed HLA-A24(+) synovial sarcoma cells expressing SYT-SSX as well as the peptide-pulsed target cells in an HLA class I-restricted manner. \"    ///    \"The peptides, SS391 (PYGYDQIMPK) and SS393 (GYDQIMPKK), were derived from the breakpoint of SYT-SSX, and SS449a (AWTHRLRER) and SS449b (AWTHRLRERK) were from the SSX region. \"'), ('3437', 'RANBP2_NUP358', 't(2;8)(q12;p11) / ', 'RANBP2', 'NUP358', '23041776', '110', '', '', '', '', '', '', '', '', '', 'A translocation t(2;8)(q12;p11) fuses FGFR1 to a novel partner gene, RANBP2/NUP358, in a myeloproliferative/myelodysplastic neoplasm.. '), ('3438', 'PCM1_JAK2', 't(8;9)(p22;p24) / ', 'PCM1', 'JAK2', '26522767', '110', 'myeloid leukemia', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'A t(8;9)(p22;p24)/PCM1-JAK2 Translocation in a Patient With Myeloproliferative Neoplasm and Myeloid Sarcoma: First Report in Korea.. '), ('3439', 'IGH_CRLF2', 'p22;q32 / p11;q32 / ', 'IGH', 'CRLF2', '20847213', '110', '', '', '', '', '', '', '', '', '', 't(X;14)(p22;q32)/t(Y;14)(p11;q32) CRLF2-IGH translocations from human B-lineage ALLs involve CpG-type breaks at CRLF2, but CRLF2/P2RY8 intrachromosomal deletions do not.. '), ('3440', 'P85_PI3K', 't(2;5)(p23;q35) / ', 'P85', 'PI3K', '15680399', '110', 'non Hodgkin Lymphoma', '', '', '', '', '', '', '', '', 'Truncated ALK derived from chromosomal translocation t(2;5)(p23;q35) binds to the SH3 domain of p85-PI3K.. '), ('3441', 'WT1_EWSR1', 't(11;22)(p13;q12) / ', 'WT1', 'EWSR1', '22587803', '110', 'ewing sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', '', 'Using COBRA-FISH following a metaphase approach we demonstrated a balanced translocation, t(11;22)(p13;q12) and in RT-PCR formation of the EWSR1-WT1 fusion product, a specific translocation of desmoplastic round cell tumour.     ///    The EWSR1-WT1 chimera seems to function as an oncogenic transcription factor. '), ('3442', 'WT1_EWSR1', 't(11;22)(p13;q12) / t(1;15) / ', 'WT1', 'EWSR1', '25133149', '110', 'desmoplastic small round cell tumor \r\r', '', '', '', '', '', '', 'KB', '', 'Cytogenetic studies showed translocation t(11;22)(p13;q12) confirming an EWSR1-WT1 translocation characteristic for DSRCT, and t(1;15)(q11;p11.2) of unknown significance. '), ('3443', 'TEL_AML1', 't(12;21)  / t(12;21)(p13;q22) / ', 'TEL', 'AML1', '23741012', '110', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'STAT3 mediates oncogenic addiction to TEL-AML1 in t(12;21) acute lymphoblastic leukemia..     ///    \"Our data indicate a direct role for TEL-AML1, via increasing the activity of RAC1, in regulating the phosphorylation of signal transducer and activator of transcription 3 (STAT3), which results in transcriptional induction of MYC. \"    ///    \"Thus, STAT3 inhibition represents a promising possible therapeutic strategy for the treatment of TEL-AML1 leukemia. \"    ///    Here we describe a novel signaling pathway that is essential for oncogenic addiction in TEL-AML1 leukemia. '), ('3444', 'RUNX1_ETV6', 't(12;21) (p13;q22) / t(12;21)  / ', 'RUNX1', 'ETV6', '21173572', '110', 'T ALL;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'In B-ALL KIBRA methylation was associated with ETV6/RUNX1 [t(12;21) (p13;q22)] chromosomal translocation (p = 0.0082) phenotype, suggesting that KIBRA may play an important role in t(12;21) leukemogenesis. '), ('3445', 'BCL2_IGH', 't(14;18) / ', 'BCL2', 'IGH', '8417783', '110', 'follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Simultaneous analysis of the bcl-2/IgH gene at the DNA and RNA level showed heterogeneous patterns of PCR positivity in regards to the evaluation of the biologic activity of the t(14;18)-carrying cells.     ///    \" To investigate the clinical and biologic significance of the circulating t(14;18)-carrying cells in follicular lymphoma (FL) patients, we analyzed the mbr/JH junction of the hybrid bcl-2/IgH gene simultaneously at the DNA and RNA levels by polymerase chain reaction (PCR) in 37 peripheral blood samples from 37 patients in different remission status: 4 before treatment, 8 during treatment, and 25 in complete remission (CR). \"    ///    Analysis of the expression of the hybrid gene bcl-2/IgH in follicular lymphomas.. '), ('3446', 'WWTR1_CAMTA1', '', 'WWTR1', 'CAMTA1', '25879300', '110', 'ductal carcinoma\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'The WW domain-containing transcription regulator 1-calmodulin-binding transcription activator 1 (WWTR1-CAMTA1) fusion gene, resulting in the overexpression of CAMTA1, is demonstrated in approximately 90% of EHEs, and the yes-associated protein 1-transcription factor E3 (YAP1-TFE3) fusion gene, associated with the strong and diffuse nuclear expression of TFE3, is present in another small subset of EHEs. '), ('3447', 'MALT1_API2', 't(11;18)  / t(11;18)(q21;q21) / t(11;18) / ', 'MALT1', 'API2', '17153776', '110', 'MALT lymphoma;B cell lymphoma;lymphoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' The t(11;18)(q21;q21) API2/MALT1 translocation is a specific chromosomal abnormality in extranodal marginal B-cell lymphomas of the mucosa-associated lymphoid tissue (MALT) type, particularly in those occurring in the stomach and lungs.     ///    \"Detection of the t(11;18) API2/MALT1 translocation associated with gastric MALT lymphoma in routine formalin-fixed, paraffin-embedded small endoscopic biopsy specimens by robust real-time RT-PCR.. \"'), ('3448', 'NPM_ALK', 't(2;5)(p23;q35) / t(1;2)(q25;p23) / t(2;3)(p23;q21) / t(2;17)(p23;q23) / inv(2)(p23q35) / ', 'NPM', 'ALK', '15208656', '110', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' Majority of anaplastic large-cell lymphomas (ALCLs) are associated with the t(2;5)(p23;q35) translocation, fusing the NPM (nucleophosmin) and ALK (anaplastic lymphoma kinase) genes (NPM-ALK).     ///    \"Although overexpression of NPM-ALK has previously been shown to transform fibroblasts, the transforming potential of variant X-ALK proteins has not been precisely investigated. \"    ///    \"We stably transfected the cDNAs coding for NPM-ALK, TPM3-ALK, TFG-ALK, CLTC-ALK or ATIC-ALK into nonmalignant NIH3T3 cells. \"'), ('3449', 'RBM15_MKL1', 't(1;22)(p13;q13) / ', 'RBM15', 'MKL1', '22469944', '110', 'acute myeloid leukemia', '', '', '', '', '', '', 'KB', 'Seq', 'A distinct entity characterized by the t(1;22)(p13;q13) translocation, resulting in the RBM15-MKL1 fusion oncogene, has been recently recognized.     ///    We present a case of acute megakaryoblastic leukemia with t(1;22)(p13;q13) along with a discussion of the current understanding of the molecular biology of RBM15-MKL1.     ///    Hemophagocytosis by leukemic megakaryoblasts in acute myeloid leukemia (megakaryoblastic) with t(1;22)(p13;q13);RBM15-MKL1.. '), ('3450', 'MALT1_API2', 't(11;18)(q21;q21) / t(14;18)(q32;q21) / ', 'MALT1', 'API2', '14652825', '110', 'MALT lymphoma;B cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'These findings indicate that MALT1 translocations are not restricted to indolent-appearing lymphomas, provide further evidence that API2-MALT1 and IGH-MALT1 translocations exhibit biologic differences, have implications regarding the pathogenesis of some extranodal DLBCL, and emphasize that a t(14;18)(q32;q21) cannot be assumed to reflect a BCL2 translocation.. '), ('3451', 'P12_P11', 'del(12)(p11-p12) / ', 'P12', 'P11', '3967221', '110', 'preleukemia', '', '', '', '', '', '', '', '', ' Among 20 patients with acute nonlymphocytic leukemia or dysmyelopoietic preleukemia secondary to Alkeran therapy for another tumor, four had a del(12)(p11-p12) and four had a translocation to 19q13 among multiple karyotypic alterations in their neoplastic hematopoetic clones. '), ('3452', 'NPM_ALK', 't(2;5)  / ', 'NPM', 'ALK', '22192458', '110', 'anaplastic large cell lymphoma;neuroblastoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The catalytic domain of ALK was originally identified in the t(2;5) translocation that produces the unglycosylated oncogenic protein NPM-ALK, which occurs in Anaplastic Large Cell Lymphoma (ALCL).     ///    \"On the contrary, tunicamycin had no effects on NPM-ALK phosphorylation in SU-DHL1 cells. \"    ///    \"As a control, we used the NB cell lines LA1-5S and NB5 (no ALK expression), and the ALCL cell line SU-DHL1 (NPM-ALK). \"'), ('3453', 'BCR_ABL1', 't(9;22) / ', 'BCR', 'ABL1', '12755554', '110', 'leukemia;gastrointestinal stromal tumor\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The Philadelphia chromosome translocation (t(9;22)) results in the molecular juxtaposition of two genes, BCR and ABL, to form an aberrant BCR-ABL gene on chromosome 22. '), ('3454', 'P22_P13', 't(7;9)  / ', 'P22', 'P13', '3976719', '110', '', '', '', '', '', '', '', '', '', 'Brief cytogenetic report on maternal translocation t(7;9) (p22:p13): two sibs with duplication 9p and one sib with the balanced translocation.. '), ('3455', 'PAX7_FKHR', 't(11;22)(q24;q12) / t(21;22)(q22;q12) / t(11;22)(p13;q12) / t(2;13)(q35;q14) / t(1;13)(p36;q14) / p11;q11 / t(11;22)  / t(21;22)  / t(2;13)  / t(1;13)  / ', 'PAX7', 'FKHR', '9293447', '109', 'desmoplastic small round cell tumor', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'These tumours were shown to carry either a t(2;13) translocation exhibiting chimeric PAX3-FKHR fusion transcripts or a t(1;13) translocation with PAX7-FKHR chimeric gene products. '), ('3456', 'NFIB_HMGA2', '', 'NFIB', 'HMGA2', '16133369', '109', 'pleomorphic adenoma\r\r', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Among pleomorphic adenomas of the salivary glands, where the preferred recombination partner with 12q13-15 is 9p22-24, an HMGA2/NFIB fusion gene has been reported.     ///    \"In the present study, two cases of lipoma with rearrangements of 9p22-24 and 12q15 were analyzed by reverse transcription polymerase chain reaction to find out if HMGA2/NFIB was also present in lipoma. \"    ///    \"Since similar 9;12 translocations have been described also in rare cases of hamartoma and uterine leiomyoma, the occurrence of HMGA2/NFIB could be postulated in these tumors as well.. \"'), ('3457', 'CRTC1_MAML2', '', 'CRTC1', 'MAML2', '22227551', '109', 'necrotizing sialometaplasia;warthin tumor', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Recent discovery of t(11; 19) translocation generating a novel fusion gene CRTC1/MAML2 which has been demonstrated in both MEC and WT has helped in providing the missing link in confirming the genetic relatedness and proof of development of a subset of WT with concomitant MEC.    ///    19) translocation generating a novel fusion gene CRTC1/MAML2 which has been demonstrated in both MEC and WT has helped in providing the missing link in confirming the genetic relatedness and proof of development of a subset of WT with concomitant MEC. '), ('3458', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '16731589', '109', 'dermatofibrosarcoma protuberans;fibrous histiocytoma;sarcoma;histiocytoma\r\r', '', '', 'Oncogene', '', '', '', 'KB', '', 'On the other hand, the COL1A1-PDGFB fusion gene was shown in three cases of DFSP containing pleomorphic sarcoma, which supports the theory of the common histogenesis..     ///    Transformed dermatofibrosarcoma protuberans: real time polymerase chain reaction detection of COL1A1-PDGFB fusion transcripts in sarcomatous areas..     ///    To show the COL1A1-PDGFB fusion transcript in transformed malignant fibrous histiocytoma.     ///    The COL1A1-PDGFB fusion transcript has been shown not only in conventional DFSP but also in a small series of DFSP with fibrosarcomatons areas (DFSP-FS) using reverse transcriptase-based conventional polymerase chain reaction.     ///    A real-time polymerase chain reaction assay for the COL1A1-PDGFB fusion transcript in a series of DFSP containing sarcoma was conducted to determine whether the chimaeric gene could be identified in both components of DFSP-FS and DFSP-PleoSarc.     ///    Nothing is known about the status of the COL1A1-PDGFB chimaeric gene in the pleomorphic areas of DFSP-PleoSarc (formerly known as DFSP-malignant fibrous sarcoma). '), ('3459', 'PAX8_PPARG', '', 'PAX8', 'PPARG', '15379724', '109', 'thyroid carcinoma;thyloid cancer\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'We have confirmed that this Pax8/PPARgamma fusion gene (designated PPFP) is an oncogene, which accelerates cell growth, reduces rates of apoptosis and permits anchorage independent and contact uninhibited growth of a thyroid cell line.     ///    The PAX8/PPAR gamma fusion oncogene as a potential therapeutic target in follicular thyroid carcinoma.. '), ('3460', 'SEPT6_MLL', '', 'SEPT6', 'MLL', '18492691', '109', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', 'KB', '', 'Molecular characterization of the MLL-SEPT6 fusion gene in acute myeloid leukemia: identification of novel fusion transcripts and cloning of genomic breakpoint junctions..     ///    These data suggest that a non-homologous end-joining repair mechanism may be involved in the generation of MLL-SEPT6 rearrangements in acute myeloid leukemia.. '), ('3461', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '17638879', '109', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'ARMS is characterized by a chromosomal translocation generating the PAX3-FKHR fusion gene.     ///    The PAX3-FKHR fusion gene of rhabdomyosarcoma cooperates with loss of p16INK4A to promote bypass of cellular senescence..     ///    \"Thus, PAX3-FKHR acts in concert with loss of p16(INK4A) to promote inappropriate proliferation of skeletal muscle cells. \"    ///    PAX3-FKHR expression promoted both fetal and postnatal primary human skeletal muscle cell precursors to bypass the senescence growth arrest checkpoint.     ///    \"Knockdown of p16(INK4A) cooperated with PAX3-FKHR to drive proliferation past senescence, whereas reintroduction of wild-type p16(INK4A) in post-senescent cells caused growth arrest. \"    ///    \"This prompted us to explore the effect of expressing PAX3-FKHR in more relevant cells, specifically primary human skeletal muscle cells because these cells can be converted to a tumorigenic state that mimics rhabdomyosarcoma. \"    ///    \"This association between PAX3-FKHR expression and p16(INK4A) loss was seen in human ARMS tumor tissue, as both human rhabdomyosarcoma cell lines and tissue microarrays showed a trend toward down-regulation of p16(INK4A) protein in alveolar subsets. \"    ///    \"However, ectopic expression of PAX3-FKHR often induces inhibition of cell proliferation, or cell death, when expressed in nonmuscle cells. \"    ///    We surmise that the generation of the PAX3-FKHR fusion protein may require loss of p16(INK4A) to promote malignant proliferation of skeletal muscle cells as an early step in ARMS tumorigenesis.. '), ('3462', 'TEL_AML1', '', 'TEL', 'AML1', '18202291', '109', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Here we explore the clonal evolution of a form of childhood precursor-B cell acute lymphoblastic leukemia that is characterized by a chromosomal translocation generating a TEL-AML1 fusion gene.     ///    \"By studying a monochorionic twin pair, one preleukemic and one with frank leukemia, we establish the lineal relationship between these \"\"cancer-propagating\"\" cells and the preleukemic cell in which the TEL-AML1 fusion first arises or has functional impact. \"'), ('3463', 'FUS_DDIT3', '', 'FUS', 'DDIT3', '20863376', '109', 'liposarcoma;sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', ' Myxoid liposarcoma is a relatively common malignant soft tissue tumor, characterized by a (12;16) translocation resulting in a FUS-DDIT3 fusion gene playing a pivotal role in its tumorigenesis.     ///    \"Using kinome profiling and subsequent pathway analysis in two cell lines and four primary cultures of myxoid liposarcomas, all of which demonstrated a FUS-DDIT3 fusion gene including one new fusion type, we aimed at identifying new molecular targets for systemic treatment. \"    ///    \"In contrast, inhibition of the nuclear factor-kappaB pathway, which is regulated by the FUS-DDIT3 fusion product, in myxoid liposarcoma cells using casein kinase 2 inhibitor 4,5,6,7-tetrabromobenzotriazole (TBB) showed a significant decrease in cell viability, decreased phosphorylation of nuclear factor-kappaB pathway proteins, and caspase 3 mediated apoptosis. \"    ///    \"In contrast, inhibition of the nuclear factor-kappaB pathway, which is regulated by the FUS-DDIT3 fusion product, in myxoid liposarcoma cells using casein kinase 2 inhibitor 4,5,6,7-tetrabromobenzotriazole (TBB) showed a significant decrease in cell viability, decreased phosphorylation of nuclear factor-kappaB pathway proteins, and caspase 3 mediated apoptosis.\"'), ('3464', 'PAX3_FOXO1A', '', 'PAX3', 'FOXO1A', '24274149', '109', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Alveolar rhabdomyosarcoma (aRMS) is a myogenic childhood sarcoma frequently associated with a translocation-mediated fusion gene, Pax3:Foxo1a.    ///    \" Alveolar rhabdomyosarcoma (aRMS) is a myogenic childhood sarcoma frequently associated with a translocation-mediated fusion gene, Pax3:Foxo1a. \"    ///    \"Rb1 loss from an already low pRb baseline is a significant disease modifier, raising the possibility that some cases of pleomorphic rhabdomyosarcoma may in fact be Pax3:Foxo1a-expressing aRMS with Rb1 or pRb loss of function..\"    ///    \"Rb1 loss from an already low pRb baseline is a significant disease modifier, raising the possibility that some cases of pleomorphic rhabdomyosarcoma may in fact be Pax3:Foxo1a-expressing aRMS with Rb1 or pRb loss of function.. \"    ///    Pax3:Foxo1a RNA interference did not increase pRb or improve Cdk inhibitor sensitivity.     ///    \"Genome-wide gene expression in Pax3:Foxo1a,Rb1 tumors more closely approximated aRMS than embryonal rhabdomyosarcoma. \"    ///    \"Whereas Pax3:Foxo1a expression was unaltered, biomarkers of aRMS versus embryonal rhabdomyosarcoma were both increased, questioning whether these diagnostic markers are reliable in the context of Rb1 loss. \"'), ('3465', 'FUS_CREB3L2', '', 'FUS', 'CREB3L2', '16948525', '109', 'sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'both neoplasms share the same cytogenetic abnormality, a balanced translocation resulting in a FUS/CREB3L2 fusion gene.     ///    \"A closely related but morphologically distinct tumor, the so-called hyalinizing spindle cell tumor with giant rosettes, has also been described; both neoplasms share the same cytogenetic abnormality, a balanced translocation resulting in a FUS/CREB3L2 fusion gene.\"'), ('3466', 'WDFY2_CDKN2D', '', 'WDFY2', 'CDKN2D', '24675677', '109', 'ovarian cancer;ovarian cancer\r\r', '', 'Kinase', '', '', '', '', '', '', 'Using high-throughput transcriptome sequencing of seven patient samples combined with experimental validation at DNA, RNA and protein levels, we identified a cancer-specific and inter-chromosomal fusion gene CDKN2D-WDFY2 that occurs at a frequency of 20% among sixty high-grade serous cancer samples but is absent in non-cancerous ovary and fallopian tube samples.     ///    CDKN2D-WDFY2 is a cancer-specific fusion gene recurrent in high-grade serous ovarian carcinoma..     ///    CDKN2D-WDFY2 fusion could be an important molecular signature for understanding and classifying sub-lineages among heterogeneous high-grade serous ovarian carcinomas. '), ('3467', 'ETO_AML1', '', 'ETO', 'AML1', '14751048', '109', 'acute myeloid leukemia', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The translocation was found to be involved in the AML1 gene on the chromosome 21 and the ETO gene on the chromosome 8, and resulted in the formation of AML1/ETO fusion gene on the derivative chromosome 8.     ///    Diagnosis was made according to FAB and MIC criteria and the expression of AML1/ETO fusion gene was detected with nested RT-PCR.     ///    Here we studied the main clinical data in children with acute non-lymphoid leukemia (ANLL) carrying the AML1/ETO fusion gene.     ///    \"In addition, we discussed the significance of the detection of AML1/ETO fusion gene in the diagnosis and prognosis of children with ANLL. \"    ///    [Analysis of 21 children with acute non-lymphoid leukemia carrying AML1/ETO fusion gene]..     ///    \"RT-PCR for the detection of AML1/ETO in children with ANLL was quick, convenient and sensitive, and could be regarded as a useful method for the diagnosis and prognosis of ANLL.. \"    ///    None of them was found carrying AML1/ETO.     ///    \"All the 21 patients in group A were found carrying AML1/ETO, and 17 patients (81%) were classified as M(2), the other 4 cases were of M(2) developed from MDS-RAEB-T, M(4Eo), M(5) and eosinophil leukemia, respectively. \"'), ('3468', 'ETO_AML1', 't(2;21;8)(q36;q22;q22) / ', 'ETO', 'AML1', '15860366', '109', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Variant translocation t(2;21;8)(q36;q22;q22) with RUNX1/CBFA2T1 (AML1/ETO) transcript in a case of acute myelogenous leukemia.. '), ('3469', 'BCR_ABL1', '', 'BCR', 'ABL1', '21884299', '109', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The abnormal Ph chromosome, which arises from a translocation creating the BCR-ABL1 fusion gene, is most commonly associated with chronic myelogenous leukemia (CML) and precursor B cell acute lymphoblastic leukemia (B-ALL). '), ('3470', 'NFIB_MYB', '', 'NFIB', 'MYB', '26359351', '109', 'adenoid cystic carcinoma\r\r', '', '', '', '', '', '', 'KB', '', 'A balanced translocation resulting in the MYB-NFIB fusion gene appears to be a fundamental signature of ACC. '), ('3471', 'TLS_ERG', 't(16;21)  / t(16;21)(p11;q22) / t(16;21) / ', 'TLS', 'ERG', '7794765', '109', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Reverse transcription-polymerase chain reaction showed that both cell lines expressed a similar TLS-ERG chimaeric mRNA as a result of the t(16;21)(p11;q22) translocation. '), ('3472', 'SYT_SSX2', '', 'SYT', 'SSX2', '12683902', '109', 'carcinosarcoma', '', '', '', '', '', '', '', '', ' Pulmonary synovial sarcoma is a rare neoplasm recently recognized as a distinct entity and characterized by t(X;18) translocation and production of at least 2 fusion genes, SYT-SSX1 and SYT-SSX2.     ///    SYT-SSX2 variant of primary pulmonary synovial sarcoma with focal expression of CD117 (c-Kit) protein and a poor clinical outcome..     ///    We report a case of primary pulmonary synovial sarcoma with the SYT-SSX2 phenotype and a rapidly progressive downhill course.     ///    Previous reports have suggested that the soft tissue synovial sarcomas with SYT-SSX2 phenotype have a favorable clinical outcome. '), ('3473', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23088973', '109', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'The impact of TMPRSS2-ERG gene fusion on prognosis was also evaluated. '), ('3474', 'DEK_CAN', 't(9;9)  / ', 'DEK', 'CAN', '17569777', '109', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' Leukemia-specific chromosome translocations involving the nucleoporin CAN/NUP214 lead to expression of different fusion genes including DEK-CAN, CAN-ABL, and SET-CAN.     ///    \"DEK-CAN and CAN-ABL1 are associated with acute myeloid leukemia and T-cell acute lymphoblastic leukemia, respectively, whereas SET-CAN was identified in a patient with acute undifferentiated leukemia. \"'), ('3475', 'MBL_CD5', 't(2;7)  / 2p11.2 / ', 'MBL', 'CD5', '21665179', '109', 'lymphoproliferative disorder\r\r', '', '', '', '', '', '', '', '', 'In this study, we sequenced a t(2;7) in a patient with persistent but non-progressing CD5(-) MBL.     ///    \"These findings highlight a genetic link between CD5(-) MBL and SMZL, and implicate the dysregulation of CDK6 in the emergence of this preclinical disorder.. \"'), ('3476', 'RUNX1_ETO', 't(8;21)  / t(8;21) / ', 'RUNX1', 'ETO', '25242324', '109', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' Oncogenic transcription factors such as RUNX1/ETO, which is generated by the chromosomal translocation t(8;21), subvert normal blood cell development by impairing differentiation and driving malignant self-renewal.     ///    Our work demonstrates on a genome-wide level that the extent of impaired myeloid differentiation in t(8;21) is controlled by the dynamic balance between RUNX1/ETO and RUNX1 activities through the repression of transcription factors that drive differentiation.     ///    \"Perturbation of this equilibrium in t(8;21) cells by RUNX1/ETO depletion leads to a global redistribution of transcription factor complexes within preexisting open chromatin, resulting in the formation of a transcriptional network that drives myeloid differentiation. \"    ///    \"Here, we use digital footprinting and chromatin immunoprecipitation sequencing (ChIP-seq) to identify the core RUNX1/ETO-responsive transcriptional network of t(8;21) cells. \"    ///    \"We show that the transcriptional program underlying leukemic propagation is regulated by a dynamic equilibrium between RUNX1/ETO and RUNX1 complexes, which bind to identical DNA sites in a mutually exclusive fashion. \"'), ('3477', 'GLI_ACTB', 't(7;12) / t(7;12)(p22;q13) / ', 'GLI', 'ACTB', '15555571', '109', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'Molecular genetic characterization of the genomic ACTB-GLI fusion in pericytoma with t(7;12)..     ///    \"Recently, we reported the structure of the ACTB-GLI and GLI-ACTB fusion transcripts in five cases, and herein the corresponding genomic breakpoints were investigated. \"    ///    \"All five fusions were molecularly unbalanced, including the two cases with reciprocal GLI-ACTB chimeras. \"'), ('3478', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '21821988', '109', 'leukemia\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'FISH analysis of bone marrow cells demonstrated 4q12 deletion and RT-PCR analysis detected FIP1L1-PDGFRA fusion gene, leading to the diagnosis of chronic eosinophilic leukemia (CEL).     ///    \"The peak level (Cmax) of dasatinib in this patient was 55.3 nM, which exceeded the concentration of dasatinib required to inhibit cells with FIP1L1-PDGFRA by 50%. \"'), ('3479', 'IG_BCL2', 't(14;18)  / ', 'IG', 'BCL2', '3500184', '109', 'B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'A sensitive S1 protection assay revealed that all transcripts in t(14;18) B cells were Bcl-2-Ig fusion mRNAs and originated from the translocated allele.     ///    Expression of Bcl-2 and Bcl-2-Ig fusion transcripts in normal and neoplastic cells.. '), ('3480', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '18004179', '109', 'hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'No patient carried the FIP1L1-PDGFRA fusion gene or other imatinib-responsive translocations. '), ('3481', 'RUNX1T1_RUNX1', 't(8;21)  / ', 'RUNX1T1', 'RUNX1', '26494788', '109', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', ' RUNX1-RUNX1T1 (formerly AML1-ETO), a transcription factor generated by the t(8;21) translocation in acute myeloid leukemia (AML), dictates a leukemic program by increasing self-renewal and inhibiting differentiation.     ///    Here we demonstrate that the histone demethylase JMJD1C functions as a coactivator for RUNX1-RUNX1T1 and is required for its transcriptional program.     ///    Analyses in JMJD1C knockout mice also establish a JMJD1C requirement for RUNX1-RUNX1T1\'s ability to increase proliferation.     ///    JMJD1C is directly recruited by RUNX1-RUNX1T1 to its target genes and regulates their expression by maintaining low H3K9 dimethyl (H3K9me2) levels. '), ('3482', 'SYT_SSX', '', 'SYT', 'SSX', '11866985', '109', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' To demonstrate that a characteristic SYT-SSX fusion gene resulting from chromosomal translocation t (X.     ///    [Detection and analysis of SYT-SSX fusion gene in synovial sarcoma]..     ///    \"SYT-SSX fusion transcripts in 20 synovial sarcomas (histologic subtypes, 15 monophasic and 5 biphasic) were detected and analyzed by the reverse-transcriptase polymerase chain reaction and compared with the results from relevant pathological data. \"    ///    \"A specific SYT-SSX RT-PCR product was found in 19 of 20 (95%) synovial sarcomas tested and of the 13 tumors containing SYT-SSX2, 10 were monophasic. \"'), ('3483', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '8545124', '109', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Although AML1/ETO does not stimulate the transcription of GM-CSF, it may function by inhibiting the normal activity of AML1B in AML cells with the t(8;21) translocation..     ///    \"Furthermore, we show that AML1/ETO, but not AML1A, inhibits the ability of AML1B to stimulate CAT expression. \"    ///    \"Our data demonstrate that AML1B, but not AML1A or AML1/ETO transactivates the GM-CSF promoter, requiring the TGTGGT sequence contained between base pairs -68 and -53. \"    ///    Our data support a role for AML1B as a transcriptional activator and establish that the AML1/ETO fusion protein can act as a dominant negative protein on the human GM-CSF promoter.     ///    \"To examine the abilities of the AML1B protein (which contains 479 amino acids), a shorter AML1A isoform (which contains amino acids 1-250), and the AML1/ETO fusion protein (which contains AML1A amino acids 1-177) to stimulate transcription from the GM-CSF promoter, we performed co-transfection experiments in T cells using a human GM-CSF promoter-CAT reporter gene plasmid and expression vectors that contain the cDNAs for one of the above proteins. \"    ///    The AML1/ETO fusion protein blocks transactivation of the GM-CSF promoter by AML1B.. '), ('3484', 'ZNF198_FGFR1', '', 'ZNF198', 'FGFR1', '15050920', '109', 'chronic myeloid leukemia;myeloid leukemia;non Hodgkin lymphoma;leukemia;lymphoma\r\r', '', 'Kinase', '', '', '', '', 'KB', '', 'Distinct stem cell myeloproliferative/T lymphoma syndromes induced by ZNF198-FGFR1 and BCR-FGFR1 fusion genes from 8p11 translocations..     ///    \"We demonstrate that ZNF198-FGFR1 induces EMS-like disease in mice, with myeloproliferation and T lymphoma arising from common multipotential progenitors. \"'), ('3485', 'TRKC_TEL', '', 'TRKC', 'TEL', '15650051', '109', 'leukemia\r\r', '', '', '', '', '', '', '', '', ' TEL-TRKC is a fusion gene generated by chromosomal translocation and encodes an activated tyrosine kinase.     ///    \"We expressed the two TEL-TRKC variants in vivo by using the 3\' regulatory element of SCL that is selectively active in a subset of mesodermal cell lineages, including endothelial and hematopoietic stem cells and progenitors. \"    ///    The leukemia form of TEL-TRKC (-exon 5 of TEL) enhanced hematopoietic stem cell renewal and initiated leukemia.     ///    \"In contrast, the TEL-TRKC solid tumor variant (+ TEL exon 5) elicited an embryonic lethal phenotype with impairment of both angiogenesis and hematopoiesis indicative of an effect at the level of the hemangioblasts. \"    ///    \"The ability of TEL-TRKC to repress expression of Flk1, a critical regulator of early endothelial and hematopoietic cells, depended on TEL exon 5. \"    ///    \"However, a single exon difference (in TEL) in TEL-TRKC fusions is associated with the two sets of cancer phenotypes. \"'), ('3486', 'SYT_SSX', '', 'SYT', 'SSX', '21333201', '109', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'One cytogenic abnormality that is common (> 90%) and pathognomonic for synovial sarcoma is a characteristic chromosomal translocation resulting in the SYT/SSX fusion gene. '), ('3487', 'VAPB_IKZF3', '', 'VAPB', 'IKZF3', '21247443', '109', 'leukemia;breast cancer\r\r', '', '', '', '', '', '', '', 'Seq', 'RNA interference-mediated knock-down of the VAPB-IKZF3 fusion gene indicated that it may be necessary for cancer cell growth and survival.     ///    \"In summary, using RNA-sequencing and improved bioinformatic stratification, we have discovered a number of novel fusion genes in breast cancer, and identified VAPB-IKZF3 as a potential fusion gene with importance for the growth and survival of breast cancer cells.. \"    ///    \"Some of the fusion partner genes, such as GSDMB in the TATDN1-GSDMB fusion and IKZF3 in the VAPB-IKZF3 fusion, were only detected as a fusion transcript, indicating activation of a dormant gene by the fusion event. \"'), ('3488', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '24909781', '109', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'This study aims to investigate prevalence of ETS-related gene (ERG) oncoprotein overexpression in Filipinos as surrogate of TMPRSS2-ERG gene fusions, using a highly specific monoclonal antibody (ERG-MAb), and conduct the first attempt to study the role of genetic alterations in the aggressive tumor biologic behaviour of CaP among Filipinos. '), ('3489', 'BCR_ABL1', '', 'BCR', 'ABL1', '10576511', '109', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Except for the lack of expression of normal BCR in m-bcr cell lines and of ABL1a-BCR expression in all cell lines, no consistent correlation of expression or lack of expression of BCR and ABL or of ABL-BCR reciprocal fusion genes could be found with cell lineages and translocation types.     ///    An ABL-BCR transcript of the 1a splice variant was not detected in any of the cell lines. '), ('3490', 'SYT_SSX1', '', 'SYT', 'SSX1', '12683902', '109', 'carcinosarcoma', '', '', '', '', '', '', '', '', ' Pulmonary synovial sarcoma is a rare neoplasm recently recognized as a distinct entity and characterized by t(X;18) translocation and production of at least 2 fusion genes, SYT-SSX1 and SYT-SSX2. '), ('3491', 'HLF_E2A', 't(17;19)  / ', 'HLF', 'E2A', '25896627', '109', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', '', '', 'The t(17;19) translocation and its E2A-HLF transcript fusion, which have been thought to be a poor prognostic factor, must be determined. '), ('3492', 'Immunoglobulin _BCL2', 't(14;18)  / ', 'Immunoglobulin ', 'BCL2', '3327775', '109', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Formation of a hybrid bcl-2/immunoglobulin transcript as a result of t(14;18) chromosomal translocation.. '), ('3493', 'ETV6_ABL1', '', 'ETV6', 'ABL1', '11170285', '109', 'chronic myeloid leukemia;myeloid leukemia;leukemia;hematologic malignancy\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Clinical findings of these patients were compared to those of previously reported cases, and the possible clinical and biological similarities between ETV6/ABL1 and other fusion genes leading to increased tyrosine kinase activity are discussed..     ///    Molecular cytogenetic analysis confirmed that formation of an ETV6/ABL1 fusion in these patients required at least three chromosomal breaks and showed that each of these translocations is the result of a complex chromosomal rearrangement.     ///    \"To date, ETV6/ABL1 transcripts have been detected in only four patients with a leukemic disorder. \"    ///    \"Here, we describe one adult with chronic myeloid leukemia and a child with T-cell acute lymphocytic leukemia with ETV6/ABL1. \"    ///    Molecular cytogenetic and clinical findings in ETV6/ABL1-positive leukemia.. '), ('3494', 'CAN_ABL1', 't(9;9)  / ', 'CAN', 'ABL1', '17569777', '109', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' Leukemia-specific chromosome translocations involving the nucleoporin CAN/NUP214 lead to expression of different fusion genes including DEK-CAN, CAN-ABL, and SET-CAN. '), ('3495', 'USP9Y_TTTY15', '', 'USP9Y', 'TTTY15', '26008593', '109', 'prostate cancer\r\r', '', '', '', '', '', '', '', '', 'Clinical utility of a novel urine-based gene fusion TTTY15-USP9Y in predicting prostate biopsy outcome..     ///    \"In conclusion, our study explored the potential utility of measuring the TTTY15-USP9Y score in post-digital rectal examination urine samples to predict biopsy outcome and provided the basis for the utility of this novel gene fusion in multicenter and large cohort studies.. \"    ///    \"The TTTY15-USP9Y score was calculated as 2(Ct(PSA)-Ct(TTTY15-USP9Y))?? 1,000. \"    ///    \"Univariable and multivariable logistic analyses indicated that TTTY15-USP9Y score, PSA level, age, and prostate volume were independent predictors of PCa. \"    ///    \"Adding the TTTY15-USP9Y score in the clinical base model (PSA level, age, and prostate volume) could bring a higher net benefit and reduce more unnecessary biopsies in the defined range of interest (10%-40% threshold probability). \"    ///    We retrospectively examined the expression of TTTY15-USP9Y in 226 qualified urine sediment samples.     ///    The combination of PSA level and the TTTY15-USP9Y score significantly improved the diagnostic performance of PSA level (P = 0.001).     ///    Our previous study has demonstrated the high prevalence of TTTY15-USP9Y in prostate cancer samples from a Chinese population.     ///    The TTTY15-USP9Y score was statistically significantly higher in men with positive biopsy outcome than in men with negative biopsy outcome (P<0.001).     ///    Our aim was to evaluate the clinical utility of TTTY15-USP9Y in predicting the prostate biopsy outcome.     ///    \"The TTTY15-USP9Y score alone was superior to PSA level, percent free PSA, and PSA density (serum PSA/prostate volume) in the subgroup of clinical interest (PSA level: 4-10ng/ml, gray zone). \"    ///    The area under the curve was 0.828 for the TTTY15-USP9Y score in the entire patient cohort.     ///    The TTTY15-USP9Y score?s cutoff of 90.28 provided the optimal balance between sensitivity (84.0%) and specificity (77.5%).     ///    Real-time quantitative polymerase chain reaction was performed to evaluate the expression of TTTY15-USP9Y and the prostate cancer-specific antigen (PSA) level. '), ('3496', 'TEL_AML1', '', 'TEL', 'AML1', '21109770', '109', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' Translocation (12;21), the most frequent chromosomal aberration in childhood acute lymphoblastic leukemia, creates TEL/AML1 fusion gene.     ///    \"TEL/AML1 silencing neither decreased cell viability, nor induced apoptosis. \"    ///    \"Using most efficient siRNAs, we achieved an average of 74-86% TEL/AML1 protein knockdown in REH and UOC-B6 leukemic cells, respectively. \"    ///    \"Our data suggest that though TEL/AML1 is important for the (pre)leukemic clone development, it may be dispensable for leukemic cell survival and would not be a suitable target for gene-specific therapy.. \"    ///    \"To address its role for leukemic cell survival, we applied RNA interference to silence TEL/AML1 in leukemic cells. \"    ///    Revealing the role of TEL/AML1 for leukemic cell survival by RNAi-mediated silencing..     ///    \"Opposite effects on cell cycle distribution and proliferation were induced by AML1 silencing, thus, supporting our hypothesis that TEL/AML1 may block AML1-mediated promotion of G1/S progression through the cell cycle. \"    ///    \"In line with the lack of major effect on phenotype, we found no significant changes in clonogenic potential and global gene expression pattern upon TEL/AML1 depletion. \"    ///    We designed and tested 11 different oligonucleotides targeting the TEL/AML1 fusion site. '), ('3497', 'DISC1_DISC1FP1', '', 'DISC1', 'DISC1FP1', '24908665', '109', '', '', '', '', '', '', '', '', '', 'After translocation, two fusion genes [the DISC1-Boymaw (DB7) and the Boymaw-DISC1 (BD13)] are generated between the DISC1 and Boymaw genes.     ///    Inhibition of protein translation by the DISC1-Boymaw fusion gene from a Scottish family with major psychiatric disorders..     ///    We generated humanized DISC1-Boymaw mice with gene targeting to examine the in vivo functions of the fusion genes. ');
INSERT INTO `ChimerPub_dump` VALUES ('3498', 'ETO_AML1', '', 'ETO', 'AML1', '22995345', '109', '', '', '', '', '', '', '', '', '', 'It generates the AML1/ETO fusion gene, which itself supports human haematopoietic stem cell self-renewal.     ///    We investigated the promoter from which transcription of the AML1/ETO gene is initiated and defined the three-dimensional structure of the whole rearranged locus..     ///    Transcription of the AML1/ETO chimera is guided by the P2 promoter of the AML1 gene in the Kasumi-1 cell line.. '), ('3499', 'SYT_SSX', '', 'SYT', 'SSX', '16556060', '109', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' Although the specific chromosomal translocation and fusion gene SYT-SSX in synovial sarcoma (SS) has been identified, the molecular mechanism of its tumorigenesis is largely unknown. '), ('3500', 'FUS_CREB3L2', '', 'FUS', 'CREB3L2', '26772399', '109', 'sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'This diagnosis often hinges on the presence of the hallmark cytogenetic aberration, a balanced 7;16 translocation resulting in a FUS-CREB3L2 fusion gene. '), ('3501', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '25897535', '109', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'But only the combination of the urinary assays for TMPRSS2:ERG gene fusion and PCA3 (both use the same platform) show the expected improved accuracy for PCa detection. '), ('3502', 'FGFR1_BCR', '', 'FGFR1', 'BCR', '15050920', '109', 'chronic myeloid leukemia;myeloid leukemia;non Hodgkin lymphoma;leukemia;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Distinct stem cell myeloproliferative/T lymphoma syndromes induced by ZNF198-FGFR1 and BCR-FGFR1 fusion genes from 8p11 translocations.. '), ('3503', 'NTRK3_ETV6', '', 'NTRK3', 'ETV6', '12450792', '108', 'ductal carcinoma', '', 'Kinase', '', '', '', '', 'KB', 'Seq', ' We report that human secretory breast carcinoma (SBC), a rare subtype of infiltrating ductal carcinoma, expresses the ETV6-NTRK3 gene fusion previously cloned in pediatric mesenchymal cancers.     ///    Expression of the ETV6-NTRK3 gene fusion as a primary event in human secretory breast carcinoma..     ///    \"ETV6-NTRK3 expression was confirmed in 12 (92%) of 13 SBC cases, but not in other ductal carcinomas. \"    ///    Retroviral transfer of ETV6-NTRK3 (EN) into murine mammary epithelial cells resulted in transformed cells that readily formed tumors in nude mice. '), ('3504', 'SYT_SSX2', '', 'SYT', 'SSX2', '16682293', '108', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'A variant of the SYT-SSX2 fusion gene in a case of synovial sarcoma..     ///    \"Here we report a case of synovial sarcoma with a novel form of the SYT-SSX2 fusion transcript, in which 75 bases were inserted at the common fusion junction. \"    ///    \"The structure of SYT-SSX2 suggests that the fusion transcript in this case was created using a cryptic splicing acceptor site 15 bases upstream of the genomic fusion point, incorporating intronic sequences in mature mRNA. \"    ///    \"Reexamination of two variant SYT-SSX2 genes reported previously revealed that unknown sequences inserted at the common junction points were derived from intron sequences, as in the present case.. \"'), ('3505', 'FUS_CREB3L1', 't(7;16)(q33;p11) / ', 'FUS', 'CREB3L1', '16931951', '108', 'perineurioma', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'We also tested a primer set to detect the FUS-CREB3L1 fusion transcript, which is a rare variant of the gene fusion in LGFMS, although no PCR products were identified in any case. '), ('3506', 'MLT_API2', 't(11;18) / t(11;18)  / ', 'MLT', 'API2', '10907943', '108', 'lymphoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'A real-time RT-PCR method for the detection of the API2-MLT fusion resulting from t(11;18) was performed on RNA extracted from frozen tissue sections.     ///    \"The product of the t(11;18), an API2-MLT fusion, is an almost exclusive finding in marginal zone cell lymphoma of extranodal MALT-type.. \"    ///    \"The API2-MLT fusion was detected in 12 cases, which were all extranodal MALT-type lymphomas of the stomach, except for one case. \"'), ('3507', 'RARA_PML', 't(15;17)(q24;q12) / ', 'RARA', 'PML', '20155840', '108', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'This study demonstrates that the frequency of RARA-PML expression has been underestimated and highlights remarkable complexity at chromosomal breakpoint regions in APL even in cases with an apparently simple balanced t(15;17)(q24;q12)..     ///    \"Six patients were falsely classified as RARA-PML negative due to deletions on chromosome 15 and/or 17, or alternative splicing leading to atypical RARA-PML fusion transcripts, which were not identified by conventional RT-PCR assays. \"    ///    \" Reciprocal RARA-PML transcripts are not detected in approximately 25% of patients with PML-RARA positive acute promyelocytic leukemia (APL), but the reasons for this are poorly understood. \"    ///    \"Atypical mRNA fusions in PML-RARA positive, RARA-PML negative acute promyelocytic leukemia.. \"    ///    We studied 21 PML-RARA positive/RARA-PML negative cases by bubble PCR and multiplex long template PCR to identify the genomic breakpoints.     ///    Three cases were found to have complex rearrangements involving a third locus: the first had a PML-CDC6-RARA forward DNA fusion and expressed a chimeric PML-CDC6-RARA mRNA in addition to a PML-RARA. '), ('3508', 'MYC_IGH', 't(8;14) / t(8;14)(q24;q32) / ', 'MYC', 'IGH', '23673335', '108', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia;B cell lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Erroneous class switching and false VDJ recombination: molecular dissection of t(8;14)/MYC-IGH translocations in Burkitt-type lymphoblastic leukemia/B-cell lymphoma..     ///    \"Using long-distance PCR for t(8;14)/MYC-IGH fusion, we investigated bone marrow, peripheral blood and a few other samples with suspected Burkitt-ALL or mature B-ALL and identified 133 MYC-IGH-positive cases. \"    ///    This detailed and extensive molecular analysis illustrates the molecular complexity of the MYC-IGH translocations and the detected distribution of breakpoints provides additional evidence that this translocation results from failed switch and VDJ recombinations. '), ('3509', 'TIF2_MOZ', 'inv(8)(p11q13) / inv(8)  / t(8;16) (p11;p13) / ', 'TIF2', 'MOZ', '10459350', '108', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'These findings indicate the existence of breakpoint cluster regions within both genes and demonstrate that the MOZ-TIF2 fusion is consistently associated with the inv(8)(p11q13).. '), ('3510', 'TEL_MN1', 't(12;21)(p13;q22) / t(12;21)  / t(12;22)(p13;q11) / t(12;22) / ', 'TEL', 'MN1', '9671410', '108', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'No MN1-TEL fusion could be detected upon RT-PCR analysis, in contrast to the previously investigated t(12;22). '), ('3511', 'ERBB2_CCL4', '1p36.33 / 9p13.2 / 3p12.3 / 6p21.1 / ', 'ERBB2', 'CCL4', '23583282', '108', 'adenoid cystic carcinoma;mucoepidermoid carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Tumor-specific amplicons were identified at 11q23.3 (PVRL1) in ACC, 11q13.3 (NUMA1) in MEC, and 6p21.1 (CCND3), 9p13.2 (PAX5), 12q15 (CNOT2/RAB3IP), 12q21.1 (GLIPR1L1), and 17q12 (ERBB2/CCL4) in SDC. '), ('3512', 'FUS_CHOP', 't(12;16)(q13;p11) / t(12;16)  / t(12;22;20) / ', 'FUS', 'CHOP', '8913727', '108', 'liposarcoma;sarcoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Nested PCR on genomic DNA from blood samples amplified FUS/CHOP hybrid fragments in three patients and EWS/CHOP in the patient with t(12;22;20).     ///    \"The translocation leads to the fusion of the CHOP and FUS genes at 12q13 and 16p11, respectively, and the generation of a FUS/CHOP hybrid protein. \"'), ('3513', 'SYT_SSX', '', 'SYT', 'SSX', '16682293', '108', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' Synovial sarcoma is a malignant soft tissue tumor harboring a tumor-specific fusion gene, SYT-SSX, of which exon 10 of the SYT gene is fused to exon 6 of the SSX gene is the common form. '), ('3514', 'ETO_AML1', 'inv(16) / t(16;16) / t(15;17) / t(8;21) / ', 'ETO', 'AML1', '21729596', '108', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'However, the RAD51-G135C and XRCC3-C241T variants had no correlations with the risk of development of t(15;17)/PML-RAR?(+)AML, t(8;21)/AML1-ETO(+) AML and 11q23 AML subtypes. '), ('3515', 'MYH11_CBFB', 'inv(16)(p13q22) / inv(16)  / t(16;16)  / ', 'MYH11', 'CBFB', '9927211', '108', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'To gain insight into the mechanisms causing the inv(16) we have analysed 24 genomic CBFB-MYH11 breakpoints. '), ('3516', 'RAB3IP_CNOT2', '1p36.33 / 9p13.2 / 3p12.3 / 6p21.1 / ', 'RAB3IP', 'CNOT2', '23583282', '108', 'adenoid cystic carcinoma;mucoepidermoid carcinoma\r\r', '', '', '', '', '', 'Transcription_Factor', '', 'Seq', 'Tumor-specific amplicons were identified at 11q23.3 (PVRL1) in ACC, 11q13.3 (NUMA1) in MEC, and 6p21.1 (CCND3), 9p13.2 (PAX5), 12q15 (CNOT2/RAB3IP), 12q21.1 (GLIPR1L1), and 17q12 (ERBB2/CCL4) in SDC. '), ('3517', 'MLL_ENL', 't(11;19)  / t(4;11)  / t(9;11)  / t(11;19) / ', 'MLL', 'ENL', '21436736', '108', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', 'PCR', '', '', '', '', '', '', '', 'Molecular findings in childhood leukemia in Brazil: high frequency of MLL-ENL Fusion/t(11;19) in infant leukemia..     ///    \"MLL-rearrangements were presented in 7 out of 23 infant leukemia, whose 5 were MLL-ENL fusion/t(11;19). \"'), ('3518', 'EWS_CHOP', 't(12;16)(q13;p11) / t(12;16)  / t(12;22;20) / ', 'EWS', 'CHOP', '8913727', '108', 'liposarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', 'Nested PCR on genomic DNA from blood samples amplified FUS/CHOP hybrid fragments in three patients and EWS/CHOP in the patient with t(12;22;20). '), ('3519', 'TEL_AML1', 't(12;21)(p13;q22) / t(12;21)  / t(12;22)(p13;q11) / t(12;22) / ', 'TEL', 'AML1', '9671410', '108', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In t(12;21) samples, TEL-AML1 was detected as several protein species in the nuclei, whereas the AML1-TEL protein, was inconsistently expressed. '), ('3520', 'CALM_AF10', 't(10;11)(p13-14;q14-q21) / t(10;11)(p13;q14-21) / t(10;11)(p12;q23) / t(10;11)(p13;q21) / t(10;11)(p13-14;q14-21) / ', 'CALM', 'AF10', '9737689', '108', 'diffuse histiocytic lymphoma;T cell leukemia', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Using RT-PCR, we amplified multiple different isoforms of AF10-CALM and CALM-AF10 fusion cDNAs from a primary T cell ALL containing a t(10;11)(p13-14;q14-21).     ///    \"Fluorescence in situ hybridization studies have demonstrated that AF10 and CALM are also involved in other hematological malignancies containing t(10;11)(p13;q21), but no data are available concerning the molecular details of AF10-CALM fusion in primary leukemias. \"    ///    Alternative splicing in wild-type AF10 and CALM cDNAs and in AF10-CALM and CALM-AF10 fusion cDNAs produced by the t(10;11)(p13-14;q14-q21) suggests a potential role for truncated AF10 polypeptides..     ///    \"The majority of the AF10 and AF10-CALM cDNA isoforms that we identified are predicted to encode for truncated AF10 polypeptides, raising the possibility that these might have important cellular functions in normal and malignant cells, perhaps by acting as dominant negative inhibitors of full-length AF10 or related proteins.. \"'), ('3521', 'EML4_ALK', '', 'EML4', 'ALK', '25407901', '107', 'non small cell lung cancer;lung cancer\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Interestingly, EML4-ALK fusion genes are more frequently found in younger patients and associated with less-differentiated carcinomas.    ///    \"We have identified EML4-ALK fusion genes in 8 out of 95 carcinoma cases, accounting for 8.42% in Chinese male never-smokers with NSCLC.\"    ///    EML4-ALK fusion genes were detected using one-step real time RT-PCR and DNA sequencing.     ///    \"Interestingly, EML4-ALK fusion genes are more frequently found in younger patients and associated with less-differentiated carcinomas. \"    ///    \"Thus, characterization of EML4-ALK fusion genes and clinical features of resulting carcinomas would be a great benefit to disease diagnosis and designing customized treatment plans. \"    ///    \"We have identified EML4-ALK fusion genes in 8 out of 95 carcinoma cases, accounting for 8.42% in Chinese male never-smokers with NSCLC. \"    ///    Non-small cell lung cancer with EML4-ALK translocation in Chinese male never-smokers is characterized with early-onset.    ///    \"In this study, we have determined the frequency of EML4-ALK translocation in male never-smokers with NSCLC in a cohort of Chinese patients.\"    ///    EML4-ALK translocation is associated with early-onset and less-differentiated carcinomas..    ///    EML4-ALK translocation is associated with early-onset and less-differentiated carcinomas..     ///    The clinical features associated with EML4-ALK translocation were also investigated.     ///    Non-small cell lung cancer with EML4-ALK translocation in Chinese male never-smokers is characterized with early-onset..     ///    \"In this study, we have determined the frequency of EML4-ALK translocation in male never-smokers with NSCLC in a cohort of Chinese patients. \"    ///    The frequency of EML4-ALK translocation is strongly associated with smoking habits in Chinese male patients with higher frequency in male never-smokers.     ///    \"Studies have suggested that EML4-ALK translocation occurs more frequently in never-smokers with NSCLC, especially in female patients. \"    ///    \"It has been suggested that EML4-ALK fusion is associated with the resistance in NSCLCs to epidermal growth factor receptor tyrosine kinase inhibitors (EGFR TKIs), such as gefitinib and erlotinib. \"'), ('3522', 'BCL2_IGH', 't(14;18)  / t(14;18) / ', 'BCL2', 'IGH', '8700536', '107', 'B cell lymphoma;lymphoma\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In an effort to identify potential upregulators of bcl-2 activity in t(14;18) cells, we found, by strand-specific RT-PCR, a bcl-2 antisense transcript that is present in the t(14;18) DOHH2 and SU-DHL-4 but not in the t(14;18)-negative Raji and Jurkat lymphoid cell lines, and thus appears to be dependent on the bcl-2/IgH fusion.     ///    A bcl-2/IgH antisense transcript deregulates bcl-2 gene expression in human follicular lymphoma t(14;18) cell lines..     ///    \" The 14;18 chromosome translocation, characteristic of most human follicular B-cell lymphomas, juxtaposes the bcl-2 gene with the IgH locus, creating a bcl-2/IgH hybrid gene. \"'), ('3523', 'TEL_AML1', 't(9;22) / t(1;19) / t(4;11) / t(12;21) / ', 'TEL', 'AML1', '9844930', '107', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'This assay will identify both the CML- and ALL-type BCR-ABL transcripts encoded by the t(9;22), all described variants of the E2A-PBX1 transcripts encoded by the t(1;19), the MLL-AF4 transcripts encoded by the t(4;11), and all variants of TEL-AML1 encoded by the t(12;21). '), ('3524', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '10776697', '107', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The results suggest that we may easily monitor MRD in patients with t(8;21) AML through quantitative analysis of AML1-ETO transcripts in blood samples..     ///    \"The ratio of the absolute copy number of a target gene (AML1-ETO) to a control gene (glyceraldehyde-3-phosphate dehydrogenase, GAPDH) was calculated by using a fluorescence curve prepared from amplicons of serially diluted standard RNA. \"    ///    There was 10(-5)-fold difference in AML1-ETO mRNA expression between PB samples in the acute phase and those in CR.     ///    \"The method was simple, rapid and reproducible for the quantity of chimeric AML1-ETO (MTG8) transcripts. \"'), ('3525', 'POU5F1_EWSR1', 't(6;22)  / t(6;22)(p22;q12) / ', 'POU5F1', 'EWSR1', '21962892', '107', 'myoepithelial tumor', '', '', '', '', '', 'Transcription_Factor', '', '', 'Molecular characterization of an EWSR1-POU5F1 fusion associated with a t(6;22) in an undifferentiated soft tissue sarcoma..     ///    \"Evaluation of existing data on the known EWSR1-POU5F1 tumors suggests that the fusion gene functions in a wide variety of cell types and may modify the differentiation state of cells, resulting in susceptibility to tumorigenesis..\"    ///    \"Evaluation of existing data on the known EWSR1-POU5F1 tumors suggests that the fusion gene functions in a wide variety of cell types and may modify the differentiation state of cells, resulting in susceptibility to tumorigenesis.. \"    ///    \"This report is novel in that to our knowledge, it is the first complete molecular characterization of an EWSR1-POU5F1 fusion in a soft tissue sarcoma. \"    ///    Molecular studies confirmed the presence of an EWSR1-POU5F1 fusion creating a chimeric gene with the N-terminal transcriptional activation domain of EWSR1 and the C-terminal POU DNA binding domain of POU5F1. '), ('3526', 'EWSR1_ATF1', 't(12;22)(q13;q12) / t(2;22)(q34;q12) / ', 'EWSR1', 'ATF1', '19561568', '107', 'clear cell sarcoma', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', ' Unlike melanoma, clear cell sarcoma harbors either a t(12;22)(q13;q12) recurrent translocation, resulting in an EWSR1/ATF1 chimeric gene, or less commonly a t(2;22)(q34;q12) translocation fusing EWSR1 and CREB1.     ///    Fluorescence in situ hybridization (FISH) analysis using the LSI EWSR1 break-apart probe and a reverse transcription polymerase chain reaction (RT-PCR) assay optimized for formalin-fixed paraffin-embedded tissue to detect all four reported EWSR1/ATF1 clear cell sarcoma chimeric types and the EWSR1/CREB1 variant was performed.     ///    Detection and characterization of EWSR1/ATF1 and EWSR1/CREB1 chimeric transcripts in clear cell sarcoma (melanoma of soft parts).. '), ('3527', 'TCF3_PBX1', '', 'TCF3', 'PBX1', '22994759', '107', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'TCF3-PBX1 fusion gene was associated with lymphadenopathy, SIL-TAL positive patients had frequent organomegaly and usually presented with a platelets count of less than 50 x10(9)/l.     ///    \"22), TCF3-PBX1 (t 1. \"'), ('3528', 'MECOM_AML1', '', 'MECOM', 'AML1', '16875579', '107', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', '', '', '', 'The mRNA expression level of AML1-MDS1-Evi1 fusion gene was 1.58 and 1.54 times higher than that of AML1-MDS1 and AML1-EAP, respectively.     ///    \"AML1-Evi1, AML1-MDS1-Evi1, AML1-EAP fusion transcripts and Evi1 gene were detected in mRNA level, but no AML1-Evi1 fusion transcript. \"    ///    \"q22) resulted in the AML1-MDS1-Evi1, AML1-MDS1, AML1-EAP fusion transcripts, and Evi1 gene was also activated by the translocation. \"'), ('3529', 'EML4_ALK', '', 'EML4', 'ALK', '20624322', '107', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The EML4-ALK fusion gene was present at a high frequency in Chinese NSCLC patients, particularly in those with adenocarcinomas lacking EGFR/KRAS mutations.     ///    \"Within this cohort, the EML4-ALK fusion gene was identified in 12 tumors (11.6%). \"    ///    \"Further analysis revealed that EML4-ALK was present at a frequency of 16.13% (10/62) in patients with adenocarcinomas, 19.23% (10/52) in never-smokers, and 42.80% (9/21) in patients with adenocarcinomas lacking EGFR and KRAS mutations. \"    ///    \"The EML4-ALK fusion was associated with non-smokers (P = 0.03), younger age of onset (P = 0.03), and adenocarcinomas without EGFR/KRAS mutations (P = 0.04). \"    ///    Concurrent deletion in EGFR exon 19 and fusion of EML4-ALK was identified for the first time in a Chinese female patient with an adenocarcinoma.     ///    \"A trend towards improved survival was observed for patients with the EML4-ALK fusion, although it was not statistically significant (P = 0.20). \"    ///    The EML4-ALK fusion appears to be tightly associated with ALK mRNA expression levels.     ///    \"A trend towards improved survival was observed for patients with the EML4-ALK fusion, although it was not statistically significant (P = 0.20).\"'), ('3530', 'ETO_AML1', 't(8;21) (q22;q22) / t(8;21)  / ', 'ETO', 'AML1', '7794758', '107', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'at least one sample from each subject was found positive for the AML1-ETO transcript suggesting a long-term persistence of t(8;21) leukaemic cells.     ///    Polyclonal haemopoieses associated with long-term persistence of the AML1-ETO transcript in patients with FAB M2 acute myeloid leukaemia in continous clinical remission..     ///    Our data confirm that the persistence of residual cells expressing the AML1-ETO transcripts is a frequent occurrence even in patients with long-term remission.     ///    \"We looked for the presence of AML1-ETO transcripts, by RT-PCR, in 49 unselected patients affected by AML-M2 diagnosed at various Italian Institutions. \"    ///    \"The molecular facet of this translocation is represented by the formation of a new hybrid gene, the AML1-ETO, which is regularly transcribed in a chimaeric mRNA and translated into a new fusion protein believed to have a key role in the pathogenesis of this type of leukaemia. \"'), ('3531', 'RET_KIF5B', '', 'RET', 'KIF5B', '25348872', '107', 'adenosquamous carcinoma', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'KIF5b-RET fusion gene, 1%. '), ('3532', 'MYH11_CBFB', 'inv(16) / t(15;17) / ', 'MYH11', 'CBFB', '26079545', '107', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', ' Acute myeloid leukemia patients with recurrent cytogenetic abnormalities including inv(16);CBFB-MYH11 and t(15;17);PML-RARA may be assessed by monitoring the levels of the corresponding abnormal fusion transcripts by quantitative reverse transcription-PCR (qRT-PCR). '), ('3533', 'MALT1_API2', 't(11;18)(q21;q21) / ', 'MALT1', 'API2', '21465313', '107', 'MALT lymphoma;B cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Status of t(11;18)(q21;q21) was determined by reverse transcriptase polymerase chain reaction for API2-MALT1 transcript, while expression of NF-?B was detected by immunohistochemistry.     ///    API2-MALT1 transcript was detected in four (40%) tumors. '), ('3534', 'WT1_EWS', 't(11;22)(p13;q12) / ', 'WT1', 'EWS', '9738572', '107', 'desmoplastic small round cell tumor\r\r', 'PCR', '', '', '', '', '', '', '', 'Functional EWS-WT1 gene fusion was evident in 25 of 26 cases with genomic breakpoints in WT1 intron 7, and EWS introns 7, 8, and 9. '), ('3535', 'NEBL_MLL', '', 'NEBL', 'MLL', '20362230', '107', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The chromosomal breakpoints of the MLL-NEBL and NEBL-MLL fusion genes were cloned by long-distance inverse polymerase chain reaction. '), ('3536', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '22994759', '107', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Survival of patients with fusion gene ETV6-RUNX1 was better when compared to patients harboring other genes.     ///    \"19), ETV6-RUNX1 (t 12. \"'), ('3537', 'MYST3_CREBBP', 't(8;16)(p11;p13) / t(8;22)(p11;q13) / t(8;19)(p11;q13) / ', 'MYST3', 'CREBBP', '18528428', '107', 'disseminated intravascular coagulation\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', '', 'Twenty-eight cases carried t(8;16)(p11;p13) with MYST3-CREBBP fusion, one case carried a variant t(8;22)(p11;q13) and one case carried a t(8;19)(p11;q13).     ///    Type I (MYST3 exon 16-CREBBP exon 3) was the most frequent MYST3-CREBBP fusion transcript (65%). '), ('3538', 'RARA_PML', 'inv(16) / t(15;17) / ', 'RARA', 'PML', '26079545', '107', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', ' Acute myeloid leukemia patients with recurrent cytogenetic abnormalities including inv(16);CBFB-MYH11 and t(15;17);PML-RARA may be assessed by monitoring the levels of the corresponding abnormal fusion transcripts by quantitative reverse transcription-PCR (qRT-PCR). '), ('3539', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '23631001', '107', '', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'PML is involved in the t(15;17) translocation that specifically occurs in Acute Promyelocytic Leukaemia (APL), resulting in a PML-retinoic acid receptor-alpha (PML-RARalpha) fusion protein. '), ('3540', 'ETO_AML1', 'inv(16)  / t(8;21)  / ', 'ETO', 'AML1', '22871474', '107', 'systemic mastocytosis\r\r', 'PCR', '', '', '', '', '', '', '', ' In core binding factor (CBF) acute myeloid leukaemia (AML), realtime quantitative PCR is useful to quantify the fusion transcript ratio (CBF?-MYH11 and AML1-ETO, in case of inv(16) and t(8;21) respectively) in peripheral blood and bone marrow during the courses of chemotherapy, in order to monitor minimal residual disease (MRD). '), ('3541', 'SMMHC_CBFB', 'inv(16) / inv(16)(p13q22) / inv(16)  / ', 'SMMHC', 'CBFB', '15855281', '107', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'CBFB-SMMHC is correlated with increased calreticulin expression and suppresses the granulocytic differentiation factor CEBPA in AML with inv(16)..     ///    \"No differences were detected in CEBPA mRNA levels in patients with inv(16) AML-M4Eo (n = 12) compared to patients with AML with a normal karyotype and M4 subtype (n = 6), whereas CEBPA protein and binding activity were significantly reduced in patients with CBFB-SMMHC. \"    ///    \"Furthermore, calreticulin, an inhibitor of CEBPA translation, was induced on mRNA and protein level in CBFB-SMMHC patients with AML and after expression of CBFB-SMMHC in the U937-cell system. \"    ///    Our results suggest that modulation of CEBPA by calreticulin represents a novel mechanism involved in the differentiation block in CBFB-SMMHC AML.. '), ('3542', 'TEL_AML1', '', 'TEL', 'AML1', '15355694', '107', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Of the 50 childhood ALL patients, 18 (36.0%) carried 11 types of fusion genes including E2A/PBX1, TEL/AML1, TLS/ERG, MLL/AF4, MLL/AF9, MLL/AF10, MLL/AFX, MLL/AF6, MLL/ELL, TAL1D, and HOX11, revealed by multiplex RT-PCR, and in 48 cases, 24 (57.1%) had chromosome abnormalities. '), ('3543', 'TFE3_ASPL', '', 'TFE3', 'ASPL', '21519815', '107', 'alveolar soft part sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In addition, the present case demonstrated strong positive nuclear staining for TFE3, and ASPL-TFE3 fusion gene type 1 was detected by RT-PCR.     ///    \"The participation of the ASPL-TFE3 chimeric gene, translocation (X. \"'), ('3544', 'EML1_ABL1', 't(9;14)(q34;q32) / ', 'EML1', 'ABL1', '15713800', '106', 'acute lymphoblastic leukemia;chronic myeloid leukemia;T ALL;myeloid leukemia;lymphoblastic leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Here we describe the identification of another ABL1 fusion, EML1-ABL1, in a T-ALL patient with a cryptic t(9;14)(q34;q32) associated with deletion of CDKN2A (p16) and expression of TLX1 (HOX11).     ///    \"Echinoderm microtubule-associated protein-like 1-Abelson 1 (EML1-ABL1) is a constitutively phosphorylated tyrosine kinase that transforms Ba/F3 cells to growth factor-independent growth through activation of survival and proliferation pathways, including extracellular signal-related kinase 1/2 (Erk1/2), signal transducers and activators of transcription 5 (Stat5), and Lyn kinase. \"    ///    These data further demonstrate the involvement of ABL1 fusions in the pathogenesis of T-ALL and identify EML1-ABL1 as a novel therapeutic target of imatinib..     ///    EML1-ABL1 and breakpoint cluster region (BCR)-ABL1 were equally sensitive to the tyrosine kinase inhibitor imatinib. '), ('3545', 'RET_CCDC6', '', 'RET', 'CCDC6', '23578175', '106', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Identification of a lung adenocarcinoma cell line with CCDC6-RET fusion gene and the effect of RET inhibitors in vitro and in vivo..     ///    \"Expression of the CCDC6-RET fusion gene in LC-2/ad cells was demonstrated by the mRNA and protein levels, and the genomic break-point was confirmed by genomic DNA sequencing. \"    ///    \"CCDC6-RET was constitutively active, and the introduction of a siRNA targeting the RET 3\' region decreased cell proliferation by downregulating RET and ERK1/2 phosphorylation.\"    ///    \"CCDC6-RET was constitutively active, and the introduction of a siRNA targeting the RET 3\' region decreased cell proliferation by downregulating RET and ERK1/2 phosphorylation. \"    ///    \"The biological relevance of the CCDC6-RET gene products was assessed by cell growth, survival and phosphorylation of ERK1/2 and AKT with or without the suppression of RET expression using RNA interference. \"    ///    Endogenously expressing CCDC6-RET contributed to cell growth. '), ('3546', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '25683993', '106', 'dermatofibrosarcoma protuberans;sarcoma\r\r', 'PCR', '', 'Oncogene', '', '', '', 'KB', '', 'The COL1A1-PDGFB fusion gene was expressed in 14 (87.5%) cases, demonstrated by reverse transcriptase PCR analysis.     ///    The COL1A1-PDGFB fusion transcript was observed in 87.5% of patients.     ///    \"No association was found among the different COL1A1-PDGFB fusion transcripts, the various histological subtypes and clinical features. \"    ///    \"Therefore, COL1A1-PDGFB is a useful and accurate tool in diagnosing DFSP in Koreans..\"    ///    \"Therefore, COL1A1-PDGFB is a useful and accurate tool in diagnosing DFSP in Koreans.. \"'), ('3547', 'PHF1_MEAF6', 't(7;17)(p15;q21) / p11;q13 / t(1;6)  / ', 'PHF1', 'MEAF6', '23580382', '106', 'endometrial stromal sarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', ' Endometrial stromal sarcomas (ESS) are genetically heterogeneous uterine tumors in which a JAZF1-SUZ12 chimeric gene resulting from the chromosomal translocation t(7;17)(p15;q21) as well as PHF1 rearrangements (in chromosomal band 6p21) with formation of JAZF1-PHF1, EPC1-PHF1, and MEAF6-PHF1 chimeras have been described.     ///    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. '), ('3548', 'SUZ12_JAZF1', 't(7;17)(p15;q21) / p11;q13 / t(1;6)  / ', 'SUZ12', 'JAZF1', '23580382', '106', 'endometrial stromal sarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', 'KB', '', ' Endometrial stromal sarcomas (ESS) are genetically heterogeneous uterine tumors in which a JAZF1-SUZ12 chimeric gene resulting from the chromosomal translocation t(7;17)(p15;q21) as well as PHF1 rearrangements (in chromosomal band 6p21) with formation of JAZF1-PHF1, EPC1-PHF1, and MEAF6-PHF1 chimeras have been described.     ///    \"Whether or not the (patho)genetic subsets JAZF1-SUZ12, PHF1 rearrangements, and ZC3H7B-BCOR correspond to any phenotypic, let alone clinically important, differences in ESS remain unknown.. \"'), ('3549', 'PHF1_JAZF1', 't(7;17)(p15;q21) / p11;q13 / t(1;6)  / ', 'PHF1', 'JAZF1', '23580382', '106', 'endometrial stromal sarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', ' Endometrial stromal sarcomas (ESS) are genetically heterogeneous uterine tumors in which a JAZF1-SUZ12 chimeric gene resulting from the chromosomal translocation t(7;17)(p15;q21) as well as PHF1 rearrangements (in chromosomal band 6p21) with formation of JAZF1-PHF1, EPC1-PHF1, and MEAF6-PHF1 chimeras have been described. '), ('3550', 'PHF1_EPC1', 't(7;17)(p15;q21) / p11;q13 / t(1;6)  / ', 'PHF1', 'EPC1', '23580382', '106', 'endometrial stromal sarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', ' Endometrial stromal sarcomas (ESS) are genetically heterogeneous uterine tumors in which a JAZF1-SUZ12 chimeric gene resulting from the chromosomal translocation t(7;17)(p15;q21) as well as PHF1 rearrangements (in chromosomal band 6p21) with formation of JAZF1-PHF1, EPC1-PHF1, and MEAF6-PHF1 chimeras have been described. '), ('3551', 'FUS_CREB3L2', '', 'FUS', 'CREB3L2', '18382348', '106', 'sarcoma\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'In 14 informative examples, including 11 with detectable fusion transcripts by RT-PCR, DNA-based PCR amplified the FUS-CREB3L2 fusion gene in 9 (64%) examples.     ///    \" Detection of the tumor-specific fusion gene, FUS-CREB3L2, is useful in the diagnosis of low-grade fibromyxoid sarcoma (LGFMS), especially by reverse transcription (RT)-polymerase chain reaction (PCR) using formalin-fixed, paraffin-embedded (FFPE) tumor tissues. \"    ///    \"In this study, DNA and RNA were extracted from FFPE specimens of 16 and 19 LGFMSs, respectively, and PCR and RT-PCR were performed using primers that specifically amplify most of the junctional regions of the FUS-CREB3L2 fusion gene. \"    ///    \"Because FUS and CREB3L2 gene segments with their break points within exons are fused without interposed introns in many LGFMSs, DNA-based PCR may also be applicable to detect the FUS-CREB3L2 fusion gene using FFPE specimens. \"    ///    \"Although the sensitivity was not as high as RT-PCR, DNA-based PCR can be used as an alternative molecular approach for detecting the FUS-CREB3L2 fusion gene.. \"    ///    \"Because FUS and CREB3L2 gene segments with their break points within exons are fused without interposed introns in many LGFMSs, DNA-based PCR may also be applicable to detect the FUS-CREB3L2 fusion gene using FFPE specimens.\"    ///    RT-PCR analysis revealed FUS-CREB3L2 fusion transcripts in 16 of the 19 (84%) LGFMSs.     ///    \"DNA-based polymerase chain reaction for detecting FUS-CREB3L2 in low-grade fibromyxoid sarcoma using formalin-fixed, paraffin-embedded tissue specimens.. \"'), ('3552', 'NPM_ALK', 'p23;q35 / t(2;5)  / t(2;5) / ', 'NPM', 'ALK', '8558920', '106', 'Hodgkin disease', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'In a first step, the expression of the NPM-ALK fusion gene was examined by reverse transcriptase-polymerase chain reaction (RT-PCR).     ///    The NPM-ALK fusion transcript and the p80 protein were detected in eight of nine ALCL cell lines. '), ('3553', 'SNX2_ABL1', 't(3;9)(p12;q34) / t(5;9)(q23;q34) / t(3;9)  / t(5;9) / ', 'SNX2', 'ABL1', '21391972', '106', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Molecular analysis revealed a FOXP1-ABL1 fusion for the t(3;9) and a SNX2-ABL1 fusion for the t(5;9). '), ('3554', 'BCAS4_AURKA', '', 'BCAS4', 'AURKA', '24395524', '106', 'breast cancer\r\r', '', 'Kinase', '', '', '', '', '', '', 'Forced expression of in-frame fusion genes (SLC2A1-FAF1 and BCAS4-AURKA) resulted in increased viability of breast cancer cells. '), ('3555', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '21669963', '106', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'The most frequently identified fusion gene is TMPRSS2:ERG, which causes ERG protein overexpression in PCa cells.     ///    \"To characterize ERG and TMPRSS2:ERG transcriptional activity of OPN, we focused on ETS binding sites (EBS) localized in conserved regions of the promoter. \"    ///    \"Moreover, stable transfection of prostate tumor cell lines by TMPRSS2:ERG upregulates endogenous OPN expression. \"'), ('3556', 'SLC2A1_FAF1', '', 'SLC2A1', 'FAF1', '24395524', '106', 'breast cancer\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Forced expression of in-frame fusion genes (SLC2A1-FAF1 and BCAS4-AURKA) resulted in increased viability of breast cancer cells. '), ('3557', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '19734416', '106', 'hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The FIP1L1-PDGFRA fusion gene was detected by nested polymerase chain reaction.     ///    The FIP1L1-PDGFRA fusion transcript was absent in all but 2 patients with T-cell receptor clonality. '), ('3558', 'ABL1_BCR', 't(1;19)  / ', 'ABL1', 'BCR', '22023462', '106', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Unique to this patient was the evidence of both breakpoint cluster region-c-abl oncogene 1 (BCR-ABL1) fusions as well as an additional unbalanced t(1;19) translocation. '), ('3559', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '21380695', '106', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The t(8;21) results in a chimerical AML1/ETO gene on the der(8) chromosome.     ///    This indicates that the molecular events on the der(8) chromosome leading to the chimerical AML1/ETO gene are more important than the events on the reciprocal 21q+ chromosome (8).. '), ('3560', 'MYC_IGH', 't(8;14)  / ', 'MYC', 'IGH', '18647999', '106', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' The t(8;14) MYC/IGH breakpoint is the hallmark translocation of human Burkitt lymphoma (BL). '), ('3561', 'FOXP1_ABL1', 't(3;9)(p12;q34) / t(5;9)(q23;q34) / t(3;9)  / t(5;9) / ', 'FOXP1', 'ABL1', '21391972', '106', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Molecular analysis revealed a FOXP1-ABL1 fusion for the t(3;9) and a SNX2-ABL1 fusion for the t(5;9). '), ('3562', 'RCK_P54', 't(11;14)(q23;q32) / ', 'RCK', 'P54', '8543178', '106', '', '', '', '', '', '', '', '', '', ' The RCK/P54 gene was previously isolated from the chromosome translocation breakpoint region on 11q23 of a human lymphoma cell line, RC-K8, with t(11;14)(q23;q32).     ///    The aim of the present investigation was the isolation and comparative sequence analysis of the mouse RCK/P54 cDNA from a BALB/c spleen cDNA library. '), ('3563', 'SYT_SSX', '', 'SYT', 'SSX', '20830232', '106', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', '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. '), ('3564', 'EML4_ALK', '', 'EML4', 'ALK', '21753699', '106', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' A subset (1% to 5%) of non-small-cell lung carcinomas harbors the EML4-ALK fusion gene. '), ('3565', 'TAF1_CAN', '', 'TAF1', 'CAN', '24449214', '106', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', '', '', '', 'Transcription_Factor', '', '', ' The SET-NUP214 (TAF1/CAN) fusion gene is a rare genetic event in T-cell acute lymphoblastic leukemia (T-ALL). '), ('3566', 'ETV6_ABL1', '', 'ETV6', 'ABL1', '20589932', '106', 'acute myeloid leukemia;acute lymphoblastic leukemia;chronic myeloid leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The ETV6/ABL1 (TEL/ABL) fusion gene is a rare aberration in malignant disorders.     ///    \"The course of the disease in the two pediatric patients is characterized by minimal residual disease monitoring, using quantification of both the ETV6/ABL1 transcript and immunoreceptor gene rearrangements. \"    ///    \"A thorough review of the literature and an analysis of all published data, including the three new cases, suggest poor prognosis of ETV6/ABL1-positive acute leukemias. \"    ///    \"Only 19 cases of ETV6/ABL1-positive hematological malignancy have been published, diagnosed with chronic myeloid leukemia, other types of chronic myeloproliferative neoplasm, acute myeloid leukemia or acute lymphoblastic leukemia (ALL). \"    ///    Eosinophilia could not be confirmed as a hallmark of the ETV6/ABL1-positive disease.     ///    Acute leukemias with ETV6/ABL1 (TEL/ABL) fusion: poor prognosis and prenatal origin..     ///    \"This study reports three new cases (aged 8 months, 5 years, and 33 years) of ALL with the ETV6/ABL1 fusion found by screening 392 newly diagnosed ALL patients (335 children and 57 adults). \"    ///    \"Studies of neonatal blood spots demonstrated that, in the child diagnosed at five years, the ETV6/ABL1 fusion initiating the ALL originated prenatally.. \"'), ('3567', 'TEL_AML1', '', 'TEL', 'AML1', '22911440', '106', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Patients with TEL-AML1 and E2A-PBX1 fusion genes or other B cell precursor ALLs (BCP-ALL) had favorable clinical features, were sensitive to prednisone, had low minimal residual disease (MRD), and an excellent prognosis, with a 5-year event-free survival (EFS) of 84-92%.     ///    Intermediate and late relapses were more common in TEL-AML1(+) patients and other BCP-ALLs compared with other subgroups (P = 0.018). '), ('3568', 'EML4_ALK', '', 'EML4', 'ALK', '23794492', '106', 'squamous cell carcinoma', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Lung adenocarcinoma (ADC) with the EML4-ALK fusion gene has been described as demonstrating mucinous cribriform/acinar growth and signet-ring cells, sometimes partially simulating SQCC. '), ('3569', 'SET_NUP214', '', 'SET', 'NUP214', '24449214', '106', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', 'KB', '', ' The SET-NUP214 (TAF1/CAN) fusion gene is a rare genetic event in T-cell acute lymphoblastic leukemia (T-ALL).     ///    SET-NUP214 is a recurrent ?? lineage-specific fusion transcript associated with corticosteroid/chemotherapy resistance in adult T-ALL..     ///    Eleven (6%) of 196 T-ALL patients enrolled in the French Group for Research on Adult Acute Lymphoblastic Leukemia (GRAALL) 2003 and 2005 trials harbored a SET-NUP214 transcript. '), ('3570', 'TRDV1_BCL11B', 'inv(14) / 3p21.33 / ', 'TRDV1', 'BCL11B', '15668700', '106', 'T ALL\r\r', '', '', '', '', '', '', '', '', 'The TRDV1-BCL11B joining region was 1344 bp long and contained fragments derived from 20q11.22, 3p21.33 and from 11p12, indicating the complex character of this aberration. '), ('3571', 'BCR_ABL1', 't(9;22)(q34;q11) / t(9;22) / ', 'BCR', 'ABL1', '22029197', '105', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The landmark of chronic myeloid leukemia (CML) is the reciprocal translocation t(9;22)(q34;q11), generating the BCR-ABL1 hybrid gene.     ///    Variant e19a2 BCR-ABL1 fusion transcript in typical chronic myeloid leukemia.. '), ('3572', 'SYT_SSX2', 'p11.2;q11.2 / ', 'SYT', 'SSX2', '16462762', '105', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'SYT-SSX2 is the fusion product of the chromosomal translocation, t(X;18)(p11.2;q11.2), which occurs in synovial sarcoma, a soft tissue tumor.     ///    The synovial sarcoma translocation protein SYT-SSX2 recruits beta-catenin to the nucleus and associates with it in an active complex..     ///    beta-Catenin accumulation in the nucleus led to the formation of a transcriptionally active nuclear complex that contained SYT-SSX2 and beta-catenin.     ///    SYT-SSX2 is known to associate with chromatin remodeling complexes and is proposed to be involved in controlling gene expression.     ///    \"Interestingly, known target genes of canonical Wnt were not activated as a result of SYT-SSX2 expression, nor was the nuclear localization of beta-catenin due to one of the signaling pathways normally implicated in this event. \"    ///    \"These results unravel a novel pathway in the control of beta-catenin cellular transport and strongly suggest that SYT-SSX2 contributes to tumor development, in part through beta-catenin signaling.. \"    ///    \"More importantly, depletion of SYT-SSX2 in primary synovial sarcoma cells resulted in loss of nuclear beta-catenin signal and a significant decrease in its signaling activity. \"    ///    We report that SYT-SSX2 plays a direct role in beta-catenin regulation. '), ('3573', 'TFG_ALK', '', 'TFG', 'ALK', '10994999', '105', 'anaplastic large cell lymphoma;non Hodgkin lymphoma;B cell lymphoma;lymphoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Several t(2;5) variants have been described; in some instances, the breakpoints have been cloned and the genes forming a new fusion gene with ALK have been identified: ATIC-ALK, TFG-ALK and TPM3-ALK.    ///    \"in some instances, the breakpoints have been cloned and the genes forming a new fusion gene with ALK have been identified: ATIC-ALK, TFG-ALK and TPM3-ALK. \"'), ('3574', 'NPM_ALK', 't(2;5)(p23;q35) / ', 'NPM', 'ALK', '12644020', '105', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' Approximately 60% of all anaplastic large-cell lymphomas (ALCL) contain a specific t(2;5)(p23;q35) chromosomal translocation leading to overexpression of NPM-ALK.     ///    Hammerhead ribozyme-mediated cleavage of the fusion transcript NPM-ALK associated with anaplastic large-cell lymphoma..     ///    \"Constant transfection of Karpas 299 cells with RZ1* for 96 hours did not lead to a significant reduction of NPM-ALK protein, presumably due to the long half-life of NPM-ALK (48 hours). \"    ///    We designed five anti-ALK hammerhead ribozymes that were targeted to cleave the ALK proportion of NPM-ALK.     ///    Ribozyme performance was tested in 293 cells (cotransfected with NPM-ALK) and in the ALCL cell line Karpas 299 by transient and stable transfection and Western blotting.     ///    Stable transfection of Karpas 299 cells with pRZ1 also resulted in significant reduction of NPM-ALK expression.     ///    The half-life time of NPM-ALK was determined by pulse-chase experiments.     ///    These results suggest that ribozymes targeted against NPM-ALK are able to inhibit expression of this oncogenic kinase efficiently and will be a useful tool to analyze its role in the pathophysiology of ALCL..     ///    \"In contrast, NPM-ALK protein expression was almost completely suppressed in transiently transfected 293 cells. \"    ///    \"As the chimeric tyrosine kinase is involved in tumorigenesis and pathogenesis of ALCL, we were interested to inhibit NPM-ALK expression using an exogenous and an endogenous ribozyme approach. \"'), ('3575', 'MYC_IGH', 't(8;14)(q24;q32) / ', 'MYC', 'IGH', '15287031', '105', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'To investigate the influence of breakpoint locations within the MYC gene on MYC transcript levels, we determined both the precise genomic MYC/IGH breakpoints and the amount of MYC mRNA in 25 samples of pediatric Burkitt\'s lymphoma with translocation t(8;14)(q24;q32). '), ('3576', 'PAX3_FKHR', 't(2,13)  /  / ', 'PAX3', 'FKHR', '12401804', '105', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'PAX3-FKHR results from a t(2,13) chromosomal translocation, a unique genetic marker of alveolar rhabdomyosarcoma.     ///     PAX3-FKHR is an oncogenic form of the developmental regulator Pax3 transcription factor.     ///    The reduction in p27(Kip1) levels by PAX3-FKHR resulted from destabilization of p27(Kip1) as shown by cycloheximide treatment and in vivo pulse-chase labeling experiments.     ///    \"In this study, we showed that ectopic expression of PAX3-FKHR, but not Pax3, in fibroblasts altered cell cycle control and accelerated G(0)/G(1) to S cell cycle transition. \"    ///    \"PAX3-FKHR transformation increases 26 S proteasome-dependent degradation of p27Kip1, a potential role for elevated Skp2 expression.. \"'), ('3577', 'TPM3_ALK', 't(2;5)(p23;q35) / t(1;2)(q21;p23) / ', 'TPM3', 'ALK', '16651537', '105', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'This approach accurately identified the nucleophosmin (NPM)-ALK fusion protein in an anaplastic large cell lymphoma (ALCL)-derived cell line carrying the t(2;5)(p23;q35), and the TPM3-ALK in a clinical biopsy of inflammatory myofibroblastic tumor (IMT) carrying the t(1;2)(q21;p23). '), ('3578', 'NOR1_EWS', 't(9;22)  / ', 'NOR1', 'EWS', '16112421', '105', 'chondrosarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' In approximately 70% of human extraskeletal myxoid chondrosarcoma (EMC) tumors, a t(9;22) chromosome translocation gives rise to a fusion protein, named EWS/NOR1, containing the amino-terminal domain of EWS fused to the complete amino acid sequence of the nuclear receptor NOR1.     ///    Several observations suggest that one role of EWS/NOR1 in EMC may be to deregulate the expression of specific genes involved in the tumoral process.     ///    \"In order to identify these genes, we have used a CFK2 chondrogenic cell line over-expressing EWS/NOR1. \"    ///    A differential display analysis has identified the PLAGL1 gene as being down-regulated in the CFK2(EWS/NOR1) cell line compared to native CFK2 cells. '), ('3579', 'NPM_ALK', 't(2;5)(p23;q35) / t(2;5) / t(2;5)  / ', 'NPM', 'ALK', '11178628', '105', 'anaplastic large cell lymphoma;lymphoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'ALK abnormalities were evaluated by assay for the t(2;5)(p23;q35) translocation by RT-PCR and/or expression of NPM-ALK fusion protein by immunohistochemistry. '), ('3580', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '15333839', '105', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'In t(8;21) leukemic cells, very stable interactions between AML1-ETO and E proteins underlie a t(8;21) translocation-specific silencing of E protein function through an aberrant cofactor exchange mechanism.     ///    \"These studies identify E proteins as AML1-ETO targets whose dysregulation may be important for t(8;21) leukemogenesis, as well as an E protein silencing mechanism that is distinct from that associated with differentiation-inhibitory proteins.. \"    ///    \" The AML1-ETO fusion protein, generated by the t(8;21) chromosomal translocation, is causally involved in nearly 15% of acute myeloid leukemia (AML) cases. \"    ///    \"This study shows that AML1-ETO, as well as ETO, inhibits transcriptional activation by E proteins through stable interactions that preclude recruitment of p300/CREB-binding protein (CBP) coactivators. \"    ///    E protein silencing by the leukemogenic AML1-ETO fusion protein.. '), ('3581', 'MAML2_CRTC1', 't(11;19)  / ', 'MAML2', 'CRTC1', '18486532', '105', 'hidradenoma', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'In a significant number of cases a recurring t(11;19) translocation with an associated novel fusion oncogene (CRTC1-MAML2) is present.     ///    t(11;19) translocation and CRTC1-MAML2 fusion oncogene in mucoepidermoid carcinoma..     ///    \"The CRTC1-MAML2 oncogene acts as a transcription factor on Notch and CREB regulatory pathways, disrupting normal cell-cycle and differentiation, contributing to tumour development. \"    ///    \"Data suggest that in MEC, the presence of CRTC1-MAML2 may have some prognostic value. \"    ///    A review of CRTC1-MAML2 in MEC is presented.. '), ('3582', 'TEL_ARNT', 't(1;12)(q21;p13) / t(1;12)  / ', 'TEL', 'ARNT', '10829078', '105', 'leukemia\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'The t(1;12)(q21;p13) translocation of human acute myeloblastic leukemia results in a TEL-ARNT fusion..     ///    Our results show that the TEL-ARNT fusion protein is the crucial product of the translocation and suggest that interference with the activity of AhR or HIF1alpha can contribute to leukemogenesis.. '), ('3583', 'DEK_CAN', 't(6;9)  / ', 'DEK', 'CAN', '12483538', '105', 'ataxia telangiectasia', '', '', '', '', '', '', '', '', 'The connection between DEK and cancer exists at multiple levels: (a) the t(6;9) chromosomal translocation that characterizes a subtype of acute myelogenous leukemia cases results in the formation of a DEK-CAN fusion oncoprotein. '), ('3584', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '18987651', '105', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The molecular anatomy of the FIP1L1-PDGFRA fusion gene..     ///     The FIP1L1-PDGFRA fusion gene is a recurrent molecular abnormality in patients with eosinophilia-associated myeloproliferative neoplasms.     ///    We characterized FIP1L1-PDGFRA junction sequences from 113 patients at the mRNA (n=113) and genomic DNA (n=85) levels.     ///    \"Stretches of overlapping sequences were identified at the genomic junction site, suggesting that the FIP1L1-PDGFRA fusion is created by illegitimate non-homologous end-joining. \"    ///    The variability in the anatomy of the FIP1L1-PDGFRA fusion has important implications for strategies to detect the fusion at diagnosis or for monitoring response to treatment.. '), ('3585', 'EVI1_AML1', 'del(7) (q22) / del(11) (q23) / ', 'EVI1', 'AML1', '10422292', '105', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'This case suggested that the AML1/EVI1 gene may be involved in the progression of MDS together with del(7) (q22) and del(11) (q23)..     ///    q22) with AML1/EVI1 mRNA during progression of myelodysplastic syndrome to acute myeloid leukemia]..     ///    The AML1/EVI1 gene has been shown to cause blast crisis in chronic myelogenous leukemia.     ///    \"In June 1994, she suffered exacerbation of pancytopenia with no chromosomal abnormalities, but AML1/EVI1 chimeric mRNA was detected by RT-PCR. \"'), ('3586', 'BCR_ABL1', 't(9;18;22) / p11.3;q11.2 / ', 'BCR', 'ABL1', '22018274', '105', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Here, we report an unclassifiable MPN case, BCR/ABL1-negative, showing a three-way t(9;18;22)(p23;p11.3;q11.2) translocation, which generates a 5\'BCR/3\'JAK2 gene by fusing BCR at intron 1 to JAK2 at intron 14 on the derivative chromosome 22. '), ('3587', 'ALL1_AF4', 't(4;11)  / t(9;11) / ', 'ALL1', 'AF4', '17726105', '105', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Consistent with this finding, siRNA-mediated suppression of ALL1/AF4 in SEMK2 cells carrying the t(4;11) chromosome translocation resulted in down-regulation of EphA7.     ///    \"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. '), ('3588', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '25815362', '105', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', ' The diagnostic work-up of acute promyelocytic leukemia (APL) includes the cytogenetic demonstration of the t(15;17) translocation and/or the PML-RARA chimeric transcript by RQ-PCR or RT-PCR.     ///    \"We describe here two new, rapid and specific assays that detect PML-RARA transcripts, based on the RT-QLAMP (Reverse Transcription-Quenching Loop-mediated Isothermal Amplification) technology in which RNA retrotranscription and cDNA amplification are carried out in a single tube with one enzyme at one temperature, in fluorescence and real time format. \"    ///    A single tube triplex assay detects bcr1 and bcr3 PML-RARA transcripts along with GUS housekeeping gene.     ///    \"In conclusion, PML-RARA RT-QLAMP compared to RT-PCR or RQ-PCR is a valid improvement to perform rapid, simple and accurate molecular diagnosis of APL. \"'), ('3589', 'MLL_CBP', 't(11;16)(q23;p13) / ', 'MLL', 'CBP', '10706136', '105', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'We established a novel myeloid cell line, SN-1, from a patient with T-cell acute lymphoblastic leukemia with t(11;16)(q23;p13) having in-frame MLL-CBP fusion transcripts.     ///    \"This cell line should be useful for the study of the role of CBP as a transcriptional regulator in leukemia differentiation and for the functional analysis of the MLL-CBP fusion gene, which will provide new insights into leukemogenesis caused by 11q23 translocations.. \"'), ('3590', 'CLTC_ALK', 't(2;17)(p23;q23) / ', 'CLTC', 'ALK', '22474449', '105', 'B cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'The most common gene rearrangement is between clathrin and ALK (t(2;17)(p23;q23)), resulting in the CLTC-ALK chimeric protein, although other fusions have been described. '), ('3591', 'RARA_PML', 't(15;17)(q22;q12) / ', 'RARA', 'PML', '18646608', '105', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Karyotype analysis and RT-PCR showed 47, XY, t(15;17)(q22;q12), +12, and PML-RARA, respectively. '), ('3592', 'P13_P11', 'del (5)  / ', 'P13', 'P11', '17728167', '105', 'growth hormone insensitivity syndrome;Laron syndrome', 'PCR', '', '', '', '', '', '', '', 'The chromosome analysis with the high accuracy technique demonstrated a large deletion of the short arm in one allele of chromosome 5 from p11 to p13.1 [46, XX, del (5) (p11-p13.1)]. '), ('3593', 'ETO_AML1', 't(8;21) / ', 'ETO', 'AML1', '8890708', '105', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'Reduction of AML1/ETO PCR positivity from one-step to two-step PCR (approximately 100-fold) was documented in the patient with a t(8;21), while a regression of lymph node and skin leukemic infiltrations occurred in the patient with M5b. '), ('3594', 'SET_NUP214', 'del(9)(q34) / del(12)(p13) / ', 'SET', 'NUP214', '21720744', '105', 'T ALL\r\r', '', '', '', '', '', '', 'KB', '', 'Phenotypic and genetic characterization of adult T-cell acute lymphoblastic leukemia with del(9)(q34);SET-NUP214 rearrangement..     ///    Conventional cytogenetic analysis revealed complex chromosomal aberrations in all four SET-NUP214 rearranged cases and del(12)(p13)/ETV6 was frequently involved.     ///     SET-NUP214 rearrangement is a recently recognized recurrent chromosomal translocation mostly observed in T-ALL.     ///    Four cases (10%) of SET-NUP214 translocation were identified in our study.     ///    \"In order to characterize this rare entity, we performed phenotypic and genetic characterization of SET-NUP214 rearrangement through an investigation of a series of 40 consecutive samples of adult T-ALL that was selected among 229 adult ALL cases during 4?years in a single institution. \"    ///    \"Our independently derived data set from a single institution confirms previous findings of SET-NUP214 rearrangement, indicates the relatively high incidence of SET-NUP214 rearrangement in adult T-ALLs, and also demonstrates comprehensive clinical, phenotypic, and genetic characteristics of this entity. \"'), ('3595', 'MLL_MEN', 't(11;19) / ', 'MLL', 'MEN', '9277049', '105', 'myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Subcellular localization of the MEN, MLL/MEN and truncated MLL proteins expressed in leukemic cells carrying the t(11;19)(q23;p13.1) translocation..     ///    The leukemogenesis by the t(11;19)(q23;p13.1) translocation may have resulted from the alteration of transcription regulation induced by the MLL/MEN fusion protein and/or the truncated MLL protein..     ///    \"Previously, we cloned several species of MLL/MEN chimeric cDNAs in a patient with myeloid leukemia carrying the t(11;19)(q23;p13.1) translocation. \"    ///    These findings suggested that MLL/MEN chimeric cDNAs were actually translated into both MLL/MEN fusion and truncated MLL proteins and that they were localized in the nucleus of leukemic cells.     ///    \"We expressed the normal MEN, MLL/MEN chimeric and truncated MLL proteins in COS7 cells with the corresponding cDNAs and detected them with antibodies raised against the MEN and MLL peptides. \"'), ('3596', 'TCF3_HLF', 't(12;21) / t(17;19) / t(9;22) / ', 'TCF3', 'HLF', '27033238', '105', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 't(12;21)/ETV6-RUNX1and high hyper-diploidy are good-risk prognostic biomarkers whereasKMT2A(MLL) translocations, t(17;19)/TCF3-HLF, haploidy or low hypodiploidy are high-risk biomarkers. '), ('3597', 'TFE3_ASPL', 'p11;q25 / ', 'TFE3', 'ASPL', '23226201', '105', '', '', '', '', '', '', '', '', '', ' Gene expression data, collected from ASPS tumors of seven different patients and from one immortalized ASPS cell line (ASPS-1), was analyzed jointly with patient ASPL-TFE3 (t(X;17)(p11;q25)) fusion transcript data to identify disease-specific pathways and their component genes.     ///    The concordance between expression measures derived from ASPS-1 and both pooled and individual patient tumor data provided a rationale for extending the analysis to include patient ASPL-TFE3 fusion transcript data.     ///    Bioinformatic analysis of patient-derived ASPS gene expressions and ASPL-TFE3 fusion transcript levels identify potential therapeutic targets.. '), ('3598', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '21447743', '105', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Strikingly, highest VEGFA levels were demonstrated in AML blasts containing a t(8;21) translocation, which involves the AML1/RUNX1 protein (AML1/ETO).     ///    Silencing of AML1/ETO caused a decrease in VEGFA mRNA expression and a decrease in secreted VEGFA protein levels in AML1/ETO-positive Kasumi-1 cells.     ///    \"Taken together, these data pinpoint to a model whereby in normal cells AML1/RUNX1 acts as a repressor for VEGFA, while in AML cells VEGFA expression is upregulated due to AML1/RUNX1 aberrations, for example, AML1/ETO. \"'), ('3599', 'RUNX1_FOG2', 't(8;21)  / t(16;21)  / t(3;21)  / t(12;21)  / ', 'RUNX1', 'FOG2', '16105753', '105', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Runx1 has been identified in leukemia-associated chromosomal translocations, including t(8;21) (Runx1-ETO/MTG8), t(16;21) (Runx1-MTG16), t(3;21) (Runx1-Evi1), t(12;21) (TEL-Runx1), and t(X;21) (Runx1-Fog2). '), ('3600', 'MALT1_API2', 't(11;18)(q21;q21) / ', 'MALT1', 'API2', '16351637', '105', '', 'PCR', '', '', '', '', '', '', '', 'We studied the presence of tumour cells in PB in gastric lymphoma patients harbouring or lacking t(11;18)(q21;q21), by real-time immunoglobulin (Ig)H allele-specific oligonucleotide-polymerase chain reaction (ASO-PCR) and API2-MALT1 PCR.     ///    Monitoring gastric lymphoma in peripheral blood by quantitative IgH allele-specific oligonucleotide real-time PCR and API2-MALT1 PCR.. '), ('3601', 'NUP214_DEK', 't(6;9)  / ', 'NUP214', 'DEK', '25605311', '105', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', 'KB', '', 'The t(6;9) balanced translocation, producing the DEK-NUP214 fusion protein, is seen in only 1% of patients with AML. '), ('3602', 'NUP98_HOXA9', 't(7;11)(p13;p14) / t(7;11)(p15;p15) / ', 'NUP98', 'HOXA9', '10936866', '105', 'down syndrome', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'NUP98-HOXA9 chimera mRNA, which is known to be involved in t(7;11)(p15;p15) translocation in acute myeloid leukemia (AML), was not detected by reverse transcriptase-polymerase chain reaction, and NUP98 rearrangement was not detected by Southern blot analysis of the blasts in the MDS phase. '), ('3603', 'P31_P21', '4p15.1 / 20p11.2 / 11p15.5 / ', 'P31', 'P21', '21763626', '105', '', '', '', '', '', '', '', '', '', 'The most frequent imbalances in both adenomas and carcinomas were gains of 1p21-p31.2, 2p12-p21 and loss of 20p11.2-p12. '), ('3604', 'NUT_BRD4', 't(15;19)  / ', 'NUT', 'BRD4', '24736545', '105', '', '', 'Kinase', '', '', '', '', 'KB', '', 'The BRD4-NUT fusion oncogene resulting from t(15;19) translocation is required for the abnormal activation of SOX2, which drives the stem cell-like proliferation and cellular transformation in NMC cells.     ///    These studies identify this stem cell marker as a novel BRD4-NUT target that supports the highly aggressive transforming activity of t(15;19) carcinomas.     ///    We further demonstrate that BRD4-NUT oncoprotein recruits p300 to stimulate transcription activation and that inhibition of p300 represses SOX2 transcription in NMC cells.     ///    Our study provides new mechanistic insights for understanding how alteration of BRD4 function by BRD4-NUT oncogene leads to the highly malignant NMC carcinoma.     ///    \"SOX2 knockdown phenocopies the effects of BRD4-NUT inhibition, whereas ectopic SOX2 expression rescues the phenotype. \"    ///    Activation of SOX2 expression by BRD4-NUT oncogenic fusion drives neoplastic transformation in NUT midline carcinoma.. ');
INSERT INTO `ChimerPub_dump` VALUES ('3605', 'BCR_ABL1', 't(9,22)(q34;q11) /  / ', 'BCR', 'ABL1', '19470474', '105', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Mutation of genes encoding tyrosine kinases is uncommon in ALL, with the exception of Philadelphia chromosome-positive ALL, where the t(9,22)(q34;q11) translocation encodes the constitutively active BCR-ABL1 tyrosine kinase.     ///    \"The JAK-mutated cases had a gene expression signature similar to BCR-ABL1 pediatric ALL, and they had a poor outcome. \"'), ('3606', 'TEL_RUNX1', 't(8;21)  / t(16;21)  / t(3;21)  / t(12;21)  / ', 'TEL', 'RUNX1', '16105753', '105', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Runx1 has been identified in leukemia-associated chromosomal translocations, including t(8;21) (Runx1-ETO/MTG8), t(16;21) (Runx1-MTG16), t(3;21) (Runx1-Evi1), t(12;21) (TEL-Runx1), and t(X;21) (Runx1-Fog2). '), ('3607', 'PDGFRB_TEL', 't(5;12)  / ', 'PDGFRB', 'TEL', '9009269', '105', 'leukemia\r\r', '', 'Kinase', '', '', 'Receptor', '', '', '', 'TEL-induced oligomerization is shown to be essential for the constitutive activation of the protein kinase activity and mitogenic properties of TEL-platelet derived growth factor receptor beta (PDGFR beta), a fusion oncoprotein characteristic of the leukemic cells of chronic myelomonocytic leukemia harboring a t(5;12) chromosomal translocation.     ///    A domain of TEL conserved in a subset of ETS proteins defines a specific oligomerization interface essential to the mitogenic properties of the TEL-PDGFR beta oncoprotein.. '), ('3608', 'NRAS_BRAF', '9p21.3 / ', 'NRAS', 'BRAF', '20140953', '105', 'melanoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'There was no relationship between BRAF/NRAS mutations and gene dosage at 9p21.3.     ///    \"BRAF/NRAS mutations were detected in 77% of relapsers and 58% of nonrelapsers (Fisher\'s exact P = 0.17), and did not predict ulceration or mitotic rate. \"    ///    Deletion at chromosome arm 9p in relation to BRAF/NRAS mutations and prognostic significance for primary melanoma.. '), ('3609', 'RUNX1_ETV6', 't(12;21) / ', 'RUNX1', 'ETV6', '19710699', '105', '', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Characterizing chromosomal break points of t(12;21)[ETV6-RUNX1]-positive leukaemia using multiple tiling PCR on whole-genome-amplified DNA.. '), ('3610', 'P13_ETV6', 'del(9)(q34) / del(12)(p13) / ', 'P13', 'ETV6', '21720744', '105', 'T ALL\r\r', '', '', '', '', '', '', '', '', 'Conventional cytogenetic analysis revealed complex chromosomal aberrations in all four SET-NUP214 rearranged cases and del(12)(p13)/ETV6 was frequently involved. '), ('3611', 'NPM_ALK', 't(2;5)  / ', 'NPM', 'ALK', '17690253', '105', 'anaplastic large cell lymphoma;anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'ALK fusions occur in approximately 50% of ALCLs, and among these, 80% have the t(2;5) translocation with NPM-ALK expression.     ///    The oncoprotein NPM-ALK of anaplastic large-cell lymphoma induces JUNB transcription via ERK1/2 and JunB translation via mTOR signaling..     ///    Expression of NPM-ALK results in ERK1/2 activation and transcriptional up-regulation of JUNB.     ///    \"In conjunction with NPM-ALK, JunB enhances cell cycle progression and may therefore represent a therapeutic target.. \"'), ('3612', 'ALL1_AF4', 't(4;11)  / ', 'ALL1', 'AF4', '11167741', '105', '', '', '', '', '', '', '', '', '', ' In this study, we examined myeloperoxidase (MPO) gene expression in a series of 31 non-infant pro-B acute lymphoblastic leukaemia (ALL) patients that included 16 cases with the t(4;11) translocation and/or the resultant ALL1/AF4 chimaeric gene.     ///    MPO mRNA was detected in nine out of 16 (56%) and seven out of 15 (47%) patients with and without the ALL1/AF4 fusion transcript respectively.     ///    Myeloperoxidase gene expression in non-infant pro-B acute lymphoblastic leukaemia with or without ALL1/AF4 transcript..     ///    \"The correlation analysis between MPO mRNA expression, age, WBC count and leukaemic relapse according to the presence/absence of the ALL1/AF4 fusion showed that the statistically significant differences observed in the whole group were related mostly to the ALL1/AF4-positive ALL patients. \"'), ('3613', 'RUNX1_MTG16', 't(8;21)  / t(16;21)  / t(3;21)  / t(12;21)  / ', 'RUNX1', 'MTG16', '16105753', '105', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Runx1 has been identified in leukemia-associated chromosomal translocations, including t(8;21) (Runx1-ETO/MTG8), t(16;21) (Runx1-MTG16), t(3;21) (Runx1-Evi1), t(12;21) (TEL-Runx1), and t(X;21) (Runx1-Fog2). '), ('3614', 'RUNX1_EVI1', 't(8;21)  / t(16;21)  / t(3;21)  / t(12;21)  / ', 'RUNX1', 'EVI1', '16105753', '105', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Runx1 has been identified in leukemia-associated chromosomal translocations, including t(8;21) (Runx1-ETO/MTG8), t(16;21) (Runx1-MTG16), t(3;21) (Runx1-Evi1), t(12;21) (TEL-Runx1), and t(X;21) (Runx1-Fog2). '), ('3615', 'NPRL2_G21', '3p21.3 / ', 'NPRL2', 'G21', '19140316', '105', 'non small cell lung cancer;lung cancer\r\r', 'PCR', 'Kinase', '', '', '', '', '', '', 'Real-time PCR was used to measure mRNA level of tumour-suppressor genes and candidates in 3p21.3 (RBSP3/CTDSPL, NPRL2/G21, RASSF1A, ITGA9, HYAL1 and HYAL2 in basic types of non-small cell lung cancer (NSCLC)--squamous cell lung cancer (SCC) and lung adenocarcinoma (AC).     ///    \"Significant decrease of RBSP3/CTDSPL, NPRL2/G21, ITGA9, HYAL1 and HYAL2 mRNA levels (on average, 5-13 times) with high frequency (83-100%) was already shown at the first stage of SCC. \"    ///    \"Down-regulation of RASSF1A and ITGA9 was associated significantly with AC progression, the same tendency was found for genes RBSP3/CTDSPL, NPRL2/G21, HYAL1 and HYAL2. \"    ///    \"[Down-regulation of RBSP3/CTDSPL, NPRL2/G21, RASSF1A, ITGA9, HYAL1 and HYAL2 genes in non-small cell lung cancer].. \"'), ('3616', 'RBM15_BSAC', 't(1;22)(p13;q13) / ', 'RBM15', 'BSAC', '18667423', '105', 'leukemia\r\r', '', '', '', '', '', '', '', '', ' OTT/RBM15-BSAC/MAL/MKL1/MRTF-A was identified as a fusion transcript generated by t(1;22)(p13;q13) in acute megakaryoblastic leukemia.     ///    \"In addition, although BSAC predominantly localizes in the cytoplasm and its nuclear translocation is considered to be regulated by the Rho-actin signaling pathway, OTT-BSAC exclusively localizes in the nucleus. \"    ///    \"Here we show that OTT-BSAC, but not BSAC or OTT strongly activates several promoters containing a transcription factor Yin Yang 1-binding sequence. \"    ///    \"However, the mechanism by which OTT-BSAC promotes leukemia is largely unknown. \"    ///    \"Moreover, OTT interacts with histone deacetylase 3, but this interaction is abolished in OTT-BSAC. \"'), ('3617', 'RUNX1_ETO', 't(8;21)  / ', 'RUNX1', 'ETO', '23616623', '105', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' The activation of B-cell-specific genes, such as CD19 and PAX5, is a hallmark of t(8;21) acute myeloid leukemia (AML) which expresses the translocation product RUNX1/ETO.     ///    \"In t(8;21) AML, PAX5 is not directly activated by RUNX1/ETO, but expression requires constitutive mitogen-activated protein (MAP) kinase signaling. \"'), ('3618', 'TEL_AML1', 't(12;21) / ', 'TEL', 'AML1', '15837750', '105', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'Long-term clinical outcome in 45 t(12;21)+ ALL patients was related to mRNA expression of TEL, AML1, TEL-AML1, and AML1-TEL, determined by real-time quantitative PCR, and the in vitro sensitivity to prednisolone, vincristine, and L-asparaginase, using 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide assays.     ///    Multivariate analysis including age and WBC showed that only high AML1-TEL expression is an independent poor prognostic factor in t(12;21)+ childhood ALL.     ///    High AML1-TEL expression is an independent poor prognostic factor in t(12;21)+ childhood ALL..     ///    \"The TEL-AML1 fusion product was expressed in all t(12;21)+ cases, whereas the reciprocal fusion product AML1-TEL was expressed in only 76%. \"    ///    \"Expression levels of TEL, AML1, and the fusion products TEL-AML1 and AML1-TEL versus drug sensitivity and clinical outcome in t(12;21)-positive pediatric acute lymphoblastic leukemia.. \"    ///    \"High expression levels of TEL-AML1 [hazard ratio (HR), 1.3. \"    ///    \"P = 0.003], AML1-TEL (HR, 4.9. \"'), ('3619', 'NPM1_ALK', 't(2;5)(p23;q35) / ', 'NPM1', 'ALK', '25961701', '105', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Although most commonly fused to the nucleophosmin (NPM1) gene on chromosome 5q35, which results in the t(2;5)(p23;q35)/NPM1-ALK translocation, several other ALK translocation partners have meanwhile been identified. '), ('3620', 'NUP98_HOXA9', 't(7;11)(p15;p15) / t(7;11) / ', 'NUP98', 'HOXA9', '24971156', '105', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', ' Musashi2(Msi2)-Numb pathway de-regulation is a molecular mechanism underlying the transition of chronic phase Ph?+?CML to deadly blast crisis, particularly in cases with a NUP98/HOXA9 fusion from a t(7;11)(p15;p15). '), ('3621', 'P25_P23', '2p23.3 / del(2)  / ', 'P25', 'P23', '8168834', '105', '', 'PCR', '', '', '', '', '', '', '', 'The single-copy microclones were used to analyze an interstitial deletion in the 2p23.3-p25.1 region--46,XY, del(2) (pter-->p25.1::p23.3-->qter)--previously reported in a patient with severe growth and mental retardation and multiple anomalies. '), ('3622', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '26575822', '105', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'The TMPRSS2-ERG gene rearrangement status of patient samples was determined by transformation of the exon array and RNA seq expression data to robust z-scores followed by the application of a threshold>3 to define a positive TMPRSS2-ERG gene fusion event in a tumour sample. '), ('3623', 'RUNX1_ETV6', 't(12;21) / t(12;21)(p13;q22) / ', 'RUNX1', 'ETV6', '20713965', '105', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' t(12;21)(p13;q22)[ETV6-RUNX1] is the most common chromosomal translocation in childhood acute lymphoblastic leukemia, and it can often be backtracked to Guthrie cards supporting prenatal initiation and high levels of circulating t(12;21)-positive cells at birth.     ///    Prevalence of t(12;21)[ETV6-RUNX1]-positive cells in healthy neonates.. '), ('3624', 'ETO_AML1', 't(8;21) / t(15;17) / ', 'ETO', 'AML1', '25750172', '105', '', '', '', '', '', '', '', '', '', 'Other mechanisms linked to PU.1 downregulation in human AML include TP53 deletion, FLT3-ITD mutation and the recurrent AML1-ETO [t(8;21)] and PML-RARA [t(15;17)] translocations. '), ('3625', 'NUP98_NSD1', 't(5;11)(q35;p15) / del(5q) / del(7q) / ', 'NUP98', 'NSD1', '26071460', '105', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Session 3 of the workshop cases displayed heterogeneity as expected within AML-MRC, yet several cases suggested that recently recognized entities may exist within this category, such as familial MDS/AML predisposition syndromes and rare cases of high-risk AML associated with the cryptic t(5;11)(q35;p15);NUP98-NSD1 that may masquerade as a del(5q). '), ('3626', 'NPRL2_G21', '3p21.3 / ', 'NPRL2', 'G21', '26112163', '105', 'acinic cell carcinoma', 'PCR', 'Kinase', '', '', '', '', '', '', 'FUS1, NPRL2/G21 and RASSF1A are TSGs from LUCA region at 3p21.3, a critical chromosomal region in lung cancer development.     ///    \"The expression of all three TSGs were significantly different between NSCLC subtypes: RASSF1A and FUS1 expression levels were significantly lower in squamous cell carcinoma (SCC), and NPRL2/G21 in adenocarcinoma (AC). \"    ///    \"Quantitative analysis of mRNA expression levels and DNA methylation profiles of three neighboring genes: FUS1, NPRL2/G21 and RASSF1A in non-small cell lung cancer patients.. \"    ///    The highest MI value was found for RASSF1A (52%) and the lowest for NPRL2/G21 (5%). '), ('3627', 'IGH_BCL2', 't(14;18) / t(14;18)  / ', 'IGH', 'BCL2', '15821762', '105', 'follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Of 23 donors, 11 had a PB and/or BM sample positive for t(14;18) (BCL2/IGH fusion) at low levels (<one t(14;18) cell in 10K total cells). '), ('3628', 'NPM_ALK', 't(2;5)  / ', 'NPM', 'ALK', '19887607', '105', 'anaplastic large cell lymphoma;T cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The majority of ALCL carries the translocation t(2;5) that encodes for the oncogenic tyrosine kinase NPM-ALK, fundamental for survival, proliferation, and migration of transformed T cells.     ///    \"We further show that NPM-ALK, but not the kinase-dead NPM-ALK(K210R), downregulated the expression of these molecules by a STAT3-mediated gene transcription regulation and/or epigenetic silencing because this downregulation was reverted by treating ALCL cells with 5-aza-2-deoxycytidine or by knocking down STAT3 through short hairpin RNA. \"    ///    NPM-ALK oncogenic tyrosine kinase controls T-cell identity by transcriptional regulation and epigenetic silencing in lymphoma cells..     ///    \"Finally, NPM-ALK increased the methylation of ZAP70 intron 1-exon 2 boundary region, and both NPM-ALK and STAT3 regulated the expression levels of DNA methyltransferase 1 in transformed T cells. \"'), ('3629', 'SYT_SSX', 'p11.2;q11.2 / ', 'SYT', 'SSX', '15103201', '105', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'A specific chimeric gene, the SSX-SYT fusion gene, was identified in the formalin-fixed paraffin-embedded surgical specimen using the reverse-transcription polymerase chain reaction (RT-PCR) technique. '), ('3630', 'RARA_PML', 't(15;17)  / t(15;17) / ', 'RARA', 'PML', '16352814', '105', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Here we found that conditional expression of promyelocytic leukemia-retinoic acid receptor alpha (PML-RARA), the protein encoded by the t(15;17) translocation found in acute promyelocytic leukemia (APL), suppressed PU.1 expression, while treatment of APL cell lines and primary cells with all-trans retinoic acid (ATRA) restored PU.1 expression and induced neutrophil differentiation. '), ('3631', 'NUP98_HOXA9', 't(7;11) (p15;p15) / ', 'NUP98', 'HOXA9', '21810091', '105', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', ' NUP98-HOXA9 [t(7;11) (p15;p15)] is associated with inferior prognosis in de novo and treatment-related acute myeloid leukaemia (AML) and contributes to blast crisis in chronic myeloid leukaemia (CML).     ///    \"NUP98-HOXA9 perturbed zebrafish embryonic haematopoiesis, with upregulated spi1 expression at the expense of gata1a. \"    ///    \"Markers associated with more differentiated myeloid cells, lcp1, lyz, and mpx were also elevated, but to a lesser extent than spi1, suggesting differentiation of early myeloid progenitors may be impaired by NUP98-HOXA9. \"'), ('3632', 'RUNX1_ETV6', 't(12;21)(p13;q22) / ', 'RUNX1', 'ETV6', '18767146', '105', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' The ETV6-RUNX1 fusion is the molecular consequence of the t(12;21)(p13;q22) seen in approximately 25% of children with acute lymphoblastic leukemia (ALL).     ///    This study identifies deletions of TBL1XR1 as a recurrent abnormality in ETV6-RUNX1 positive ALL.     ///    The complex genomic profile of ETV6-RUNX1 positive acute lymphoblastic leukemia highlights a recurrent deletion of TBL1XR1.. '), ('3633', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '18702871', '105', 'pseudotumor cerebri;sweet syndrome', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Forty-two patients with confirmed APL (by t(15;17) and/or PML/RARA) treated at our institution (University hospital of Tunis) between January 1998 and June 2006 using two consecutive protocols: European APL93 trial (24 patients) until February 2004 and Spanish PETHEMA LPA99 trial (18 patients) more recently. '), ('3634', 'RARA_PML', 't(8;21) / t(15;17) / ', 'RARA', 'PML', '25750172', '105', '', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Other mechanisms linked to PU.1 downregulation in human AML include TP53 deletion, FLT3-ITD mutation and the recurrent AML1-ETO [t(8;21)] and PML-RARA [t(15;17)] translocations. '), ('3635', 'PTD_MLL', 't(15;17)  / t(11q23)  / ', 'PTD', 'MLL', '16330434', '105', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'Furthermore, no significant difference could be found between the group of t(11q23) and MLL-PTD (p=0.180) or between MLL-PTD positive and MLL negative normal karyotypes (p=0.859). '), ('3636', 'RARA_PML', 't(8;21)  / t(15;17)  / ', 'RARA', 'PML', '21234297', '105', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Early Detection of t(8;21) Chromosomal Translocations During Treatment of PML-RARA Positive Acute Promyelocytic Leukemia: A Case Study.. '), ('3637', 'YAP1_TFE3', 'p36;q25 / ', 'YAP1', 'TFE3', '24986479', '105', 'epithelioid hemangioendothelioma', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', '', '', 'TFE3 showed a nuclear reaction in 21/24 cases, irrespective of TFE3 rearrangement.Molecular genetically, 35/35 cases revealed one of the fusion genes by FISH and/or RT-PCR with WWTR1-CAMTA1 in 33 cases and YAP1-TFE3 in 2 cases.     ///    An alternate YAP1-TFE3 fusion has been detected in a small and distinct subset of cases. '), ('3638', 'SAS_CDK4', '1p34.3 / 19p13.2 / ', 'SAS', 'CDK4', '12203778', '105', 'diffuse large cell lymphoma', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Microarray-based genomic analysis of four DLCL cases identified oncogene gains of SAS/CDK4 (12q13.3) in three cases and MYCL1 (1p34.3), MYC (8q24), FGFR2 (10q26), BCL2 (18q21.3), CSE1L (20q13), and PDGFB (22q12-13) in two cases, whereas losses of AKT1 (14q32.3), IGFR1 (15q25-26), and JUNB (19p13.2) were identified in three cases, and losses of FGR (1p36), ESR (6q25.1), ABL1 (9q34.1), TOP2A (17q21-22), ERBB2 (17q21.2), CCNE1 (19q13.1), and BCR (22q11) were each identified in two cases. '), ('3639', 'TEL_AML1', 't(12;21)(p13;q22) / ', 'TEL', 'AML1', '17114960', '105', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The TEL-AML1 translocation, t(12;21)(p13;q22), is one of the most frequent genetic aberrations in childhood B-cell precursor acute lymphoblastic leukemia (ALL), where it occurs in 25% of all cases.     ///    Evidence suggests that the TEL-AML1 translocation occurs in utero in 1% of all newborn children at cell levels of 10 to 10.     ///    These data indicates that prenatal TEL-AML1 subclones does not persist throughout adult life at cell levels of 10 to 10. '), ('3640', 'RARA_PML', 't(15,17)  /  / ', 'RARA', 'PML', '25436934', '105', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', ' Acute promyelocytic leukemia (APL) is largely caused by the t(15,17) chromosome translocation, leading to the production of the PML/retinoic acid receptor alpha fusion. '), ('3641', 'BCR_ABL1', 't(9;22)(q34;q11) / ', 'BCR', 'ABL1', '23666688', '105', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The reciprocal translocation between chromosomes 9 and 22 [t(9;22)(q34;q11), Philadelphia chromosome] creates a BCR-ABL1 fusion protein that occurs in approximately 95% of cases of chronic myelogenous leukemia (CML), 15% of cases of adult acute lymphoblastic leukemia, and 5% of adult cases of acute myeloid leukemia.     ///    \"PCR-based methods to identify and quantitate the tumor-specific BCR-ABL1 RNA have been shown to be an ultrasensitive diagnostic, prognostic, and monitoring tool for Philadelphia-positive leukemias. \"    ///    The most common mechanism of resistance in these patients is the development of mutations in the BCR-ABL1 kinase domain (KD) that abrogate binding of imatinib.     ///    The BCR-ABL1 protein is a constitutively activated tyrosine kinase that induces and maintains the neoplastic phenotype in these leukemias.     ///    We describe here a method for sequencing the BCR-ABL1 kinase domain in peripheral blood or bone marrow of CML patients..     ///    Detection of BCR-ABL1 kinase domain mutations causing imatinib resistance in chronic myelogenous leukemia..     ///    \"However, a significant minority of patients being treated with imatinib develop resistance to the drug as evidenced by rising BCR-ABL1 levels. \"    ///    \"Thus, DNA sequencing of the BCR-ABL1 kinase domain in resistant patients helps identify those who may benefit from a change in TKI agents, or those who should be considered for other therapeutic measures, such as stem cell transplantation. \"'), ('3642', 'ZNF384_E2A', 't(12;17)  / t(12;22)  / t(12;19)  / ', 'ZNF384', 'E2A', '16510139', '105', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Translocations t(12;17) and t(12;22) fuse ZNF384 to RNA-binding proteins TAF15 and EWSR1, while a translocation t(12;19) generates an E2A/ZNF384 fusion. '), ('3643', 'P21_P12', '4p15.1 / 20p11.2 / 11p15.5 / ', 'P21', 'P12', '21763626', '105', '', '', '', '', '', '', '', '', '', 'The most frequent imbalances in both adenomas and carcinomas were gains of 1p21-p31.2, 2p12-p21 and loss of 20p11.2-p12. '), ('3644', 'RUNX1_ETO', 't(8;21)  / t(16;21)  / t(3;21)  / t(12;21)  / ', 'RUNX1', 'ETO', '16105753', '105', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Runx1 has been identified in leukemia-associated chromosomal translocations, including t(8;21) (Runx1-ETO/MTG8), t(16;21) (Runx1-MTG16), t(3;21) (Runx1-Evi1), t(12;21) (TEL-Runx1), and t(X;21) (Runx1-Fog2). '), ('3645', 'NUP98_HOXC11', 't(11;12)(p15;q13) / ', 'NUP98', 'HOXC11', '12970787', '105', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', 'KB', '', 'Major form of NUP98/HOXC11 fusion in adult AML with t(11;12)(p15;q13) translocation exhibits aberrant trans-regulatory activity..     ///    \"Therefore, NUP98-HOXC11 may contribute to the leukemogenesis by interfering with the cellular mechanism of transcriptional regulation.. \"    ///    \"Interestingly, the NUP98-HOXC11 protein when assayed in a GAL4 reporter system, showed an aberrant trans-regulatory activity as compared to the wild-type HOXC11 in both COS-7 and HL-60 cells. \"    ///    \"Therefore, this type of fusion may represent the major form of the NUP98-HOXC11 chimera so far reported. \"'), ('3646', 'EML4_ALK', '', 'EML4', 'ALK', '26710868', '104', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The technique of fluorescent quantitative polymerase chain reaction (FQ-PCR) was employed for detecting the mutation rate of EGFR gene and EML4-ALK fusion gene for 40 cases of superficial lymph node tissue of NSCLC inpatients at General Military Hospital of Beijing PLA Command from February 2013 to November 2014.    ///    The mutation rate of EML4-ALK fusion gene was 2.     ///    The mutation rate of EGFR gene is high in adenocarcinoma and non-smokers while EML4-ALK fusion gene has a low mutation rate..     ///     To explore the mutation status of epidermal growth factor receptor (EGFR) fusion gene and microtubule associated protein like 4-anaplastic lymphoma kinase (EML4-ALK) fusion gene in superficial lymph nodes of non-small cell lung cancer (NSCLC).     ///    [Mutations of EGFR gene and EML4-ALK fusion gene in superficial lymph node of non-small cell lung cancer].. '), ('3647', 'EML4_ALK', '', 'EML4', 'ALK', '22736493', '104', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' EML4-ALK fusion genes have been recognized as novel \"driver mutations\" in a small subset of non-small cell lung cancers (NSCLC).     ///    \"EML4-ALK fusion genes were identified by RT-PCR, whereas EGFR (Exons 18-21) and KRAS (Exons 1 and 2) mutations were detected by DNA sequencing. \"    ///    Detection of EML4-ALK fusion genes in non-small cell lung cancer patients with clinical features associated with EGFR mutations..     ///    Our data support the conclusion that the EML4-ALK fusion gene defines a new molecular subset of NSCLC with distinct pathologic features..     ///    \"Of the eight patients with EML4-ALK, none had an EGFR mutation, whereas a KRAS mutation was detected in one patient. \"    ///    \"Histologically, five of the EML4-ALK positive tumors were adenocarcinoma and two were mixed adenosquamous carcinoma. \"    ///    \"Thirty-one (31%) cases were wild type for EML4-ALK, EGFR, and KRAS mutations. \"    ///    \"Of the eight patients with EML4-ALK, none had an EGFR mutation, whereas a KRAS mutation was detected in one patient.\"    ///    The frequency of EML4-ALK fusions in NSCLC patients who have clinical characteristics related to EGFR mutation remains unknown.     ///    \"Eight specimens (8%) were positive for EML4-ALK fusions, with seven being Variant 1 and one Variant 2. \"    ///    \"Eight specimens (8%) were positive for EML4-ALK fusions, with seven being Variant 1 and one Variant 2.\"'), ('3648', 'PDGFRA_FIP1L1', 't(2;4)(p22;q26) / ', 'PDGFRA', 'FIP1L1', '16720555', '104', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Bone marrow aspirate showed marked infiltration by morphologically normal eosinophils with a normal karyotype but no FIP1L1-PDGFRA fusion gene. '), ('3649', 'EML4_ALK', '', 'EML4', 'ALK', '22913857', '104', 'non small cell lung cancer;squamous cell carcinoma;lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Sixty-four fresh frozen tumor specimens were obtained from the tissue bank of Chang Gung Memorial Hospital for RNA extraction and EML4-ALK fusion gene detection.     ///    \"In addition, NSCLC patients with the EML4-ALK fusion gene had a dramatic response and longer progression free survival after ALK inhibitor treatment than those without this fusion gene. \"    ///    ALK overexpression detected by IHC study could be a promising detection method for the EML4-ALK fusion gene and is worth further confirmation with more samples..     ///    Three of the 64 tumors (4.7%) had the EML4-ALK fusion gene.     ///    \"Twenty patients with non-squamous cell carcinomas had epidermal growth factor receptor (EGFR) mutations, so the EML4-ALK fusion gene was found in 14.3% of EGFR wild type non-squamous cell carcinomas. \"    ///    \"When compared with other clinical and molecular features, only the IHC stain for ALK was significantly correlated with the EML4-ALK fusion gene (p = 0.0002). \"    ///     Recently the echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase (EML4-ALK) fusion gene with transforming activity was identified in non-small cell lung cancer (NSCLC).     ///    \"However, the incidence and clinical and molecular characteristics of the EML4-ALK fusion gene in NSCLC patients of Taiwan are still unclear. \"    ///    Correlation of anaplastic lymphoma kinase overexpression and the EML4-ALK fusion gene in non-small cell lung cancer by immunohistochemical study.. '), ('3650', 'EML4_ALK', '', 'EML4', 'ALK', '20183914', '104', 'non small cell lung cancer', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We screened for EML4-ALK fusion genes and examined the clinicopathological and genetic characteristics of fusion-harboring NSCLC tumors.    ///    Clinicopathologic features of non-small-cell lung cancer with EML4-ALK fusion gene..     ///    Five EML4-ALK fusion genes were detected (four from 111 female samples and one from 202 male samples.     ///    \"EML4-ALK fusion genes were observed predominantly in adenocarcinomas, in female or nonsmoking populations. \"    ///    \"Additionally, the EML4-ALK fusions were mutually exclusive with mutations in the EGFR, KRAS, and ERBB2 genes.. \"'), ('3651', 'TFE3_PRCC', '', 'TFE3', 'PRCC', '16010549', '104', 'lactic acidosis;MELAS;renal cancer;renal cell carcinoma', '', '', '', '', '', '', 'KB', '', 'We reported a case of a 2-year-old boy with RCC associated with TFE3 translocation resulting in a PRCC-TFE3 fusion gene. '), ('3652', 'TEL_AML1', '', 'TEL', 'AML1', '10597047', '104', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The TEL/AML1 fusion gene occurs in childhood B-cell acute lymphoblastic leukemia (ALL) as a result of the translocation of human chromosome 12;21.     ///    \"Thus, production of the TEL/AML1 protein by translocation of human chromosome 12;21 may contribute to leukemogenesis by the specific inhibition of AML1-dependent activation of myeloid promoters.. \"    ///    \"A mutation analysis of the human CR1 promoter revealed that the binding sites for TEL and AML1 are necessary for the action of TEL and TEL/AML1, respectively. \"    ///    \"When TEL/AML1 and AML1 proteins are present in cells at the same time, the TEL/AML1 protein inhibits the transactivation activities of AML1 protein on the human CR1 promoter even though TEL/AML1 retains the transactivation domain of AML1. \"    ///    Functional characterization of TEL/AML1 fusion protein in the regulation of human CR1 gene promoter..     ///    \"Using reporter gene assays, we have functionally characterized TEL, AML1 and TEL/AML1 fusion proteins in the regulation of the human CR1 gene. \"'), ('3653', 'NPM_ALK', '', 'NPM', 'ALK', '17320171', '104', 'anaplastic large cell lymphoma;lymphoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Quantitative PCR detection of NPM/ALK fusion gene and CD30 gene expression in patients with anaplastic large cell lymphoma--residual disease monitoring and a correlation with the disease status..     ///    ALCL is frequently associated with a NPM/ALK fusion gene which is found in up to 75% of pediatric ALCLs.     ///    RQ-RT-PCR of NPM/ALK expression is a promising and rapid approach for monitoring MRD..     ///    Five out of nine relapses were preceded or were accompanied by minimally half log increased NPM/ALK levels in the BM.     ///    \"In all BM samples from relapses and/or closely before a relapse, BM samples revealed NPM/ALK and CD30 positivity in at least one of the iliac BM trephines. \"    ///    Real-time quantitative RT-PCR (RQ-RT-PCR) of NPM/ALK and CD30 gene expression was employed to analyze minimal residual disease (MRD) in 10 patients with NPM/ALK positive ALCL in 79 follow-up bone marrow (BM) and/or peripheral blood (PB) samples. '), ('3654', 'COL1A1_PDGFB', '', 'COL1A1', 'PDGFB', '24525843', '104', 'dermatofibrosarcoma,', 'PCR', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'Although COL1A1/PDGFB fusion gene was identified in the tumor cells recently, not all of the cases were positive for the fusion gene, and further researches are still needed to clarify the pathogenesis of DFSP.    ///    \"Although COL1A1/PDGFB fusion gene was identified in the tumor cells recently, not all of the cases were positive for the fusion gene, and further researches are still needed to clarify the pathogenesis of DFSP. \"'), ('3655', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '18445043', '104', 'myelodysplastic syndrome\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The presence of BCR/ABL and other relevant fusion gene products (FIP1L1/PDGFRA, AML1/ETO, PML/RAR alpha, CBF beta/MYH11) were excluded by PCR. '), ('3656', 'PAX3_FOXO1', '', 'PAX3', 'FOXO1', '18457914', '104', 'rhabdomyosarcoma;soft tissue sarcoma', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'The PAX3-FOXO1 fusion gene, resulting from the stable reciprocal translocation of chromosomes 2 and 13, is a signature genetic change found only in aRMS, and thought to be responsible at least in part for its malignant phenotype.     ///    \"This review will discuss the clinical significance of the PAX3-FOXO1 fusion gene, the pertinent historical and current models used to study its oncogenic contributions, the transcriptional targets that are thought to mediate these contributions, and the cellular mechanisms impacted by PAX3-FOXO1 that ultimately lead to aRMS.. \"    ///    \"This review will discuss the clinical significance of the PAX3-FOXO1 fusion gene, the pertinent historical and current models used to study its oncogenic contributions, the transcriptional targets that are thought to mediate these contributions, and the cellular mechanisms impacted by PAX3-FOXO1 that ultimately lead to aRMS..\"    ///    PAX3-FOXO1 fusion gene in rhabdomyosarcoma.. '), ('3657', 'EML4_ALK', '', 'EML4', 'ALK', '21719143', '104', 'adenocarcinoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' We herein report a case of signet ring cell adenocarcinoma of the lung with an EML4-ALK fusion gene mimicking mucinous (colloid) adenocarcinoma.     ///    Signet ring cell adenocarcinoma of the lung with an EML4-ALK fusion gene mimicking mucinous (colloid) adenocarcinoma: a case report..     ///    \"The postoperative pathological examination revealed signet ring cell carcinoma with abundant mucin pools, and a multiplex RT-PCR analysis revealed the variant 2 inversion of the EML4-ALK gene.. \"    ///    \"The postoperative pathological examination revealed signet ring cell carcinoma with abundant mucin pools, and a multiplex RT-PCR analysis revealed the variant 2 inversion of the EML4-ALK gene..\"'), ('3658', 'EML4_ALK', '', 'EML4', 'ALK', '22494566', '104', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'A total of 161 cell samples, from cases without available tissue samples, obtained by bronchoscopic examinations utilized for immediate cytology in patients with NSCLC were subsequently analyzed for EML4-ALK fusion genes using a nested multiplex RT-PCR.    ///    The efficacy of RT-PCR for detection of EML4-ALK fusion genes in transbronchial cytological specimens has not been studied.    ///    The RNA was extracted and the sensitivity of detection of the EML4-ALK fusion gene was determined using a nested RT-PCR.    ///    \"Here, we evaluated the detection rate of EML4-ALK fusion genes in transbronchial cytological specimens positive for NSCLC by immediate cytology during bronchoscopic examination. \"    ///    \"In the patient cytological samples, EML4-ALK fusion genes were detected in five of 161 NSCLCs (3.1%) and four of 88 adenocarcinomas (4.5%). \"    ///    \"A total of 161 cell samples, from cases without available tissue samples, obtained by bronchoscopic examinations utilized for immediate cytology in patients with NSCLC were subsequently analyzed for EML4-ALK fusion genes using a nested multiplex RT-PCR. \"    ///    EML4-ALK fusion genes as well as EGFR mutations were successfully detected in a small number of cancer cells from transbronchial cytological specimens using a nested multiplex RT-PCR.     ///    Detection of EML4-ALK fusion genes in a few cancer cells from transbronchial cytological specimens utilizing immediate cytology during bronchoscopy..     ///    There was no case in which both EML4-ALK fusion and EGFR mutation were simultaneously detected.    ///    Various numbers of H2228 cells carrying EML4-ALK variant 3 were combined with 1??10(6) wild-type WBCs.     ///    \"EML4-ALK variant 3 was detected in a small number of H2228 cells (10 cells), even in the presence of 1??10(6) WBCs (sensitivity: 0.001%). \"'), ('3659', 'RARA_PLZF', '', 'RARA', 'PLZF', '11776589', '104', 'leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'TF is up-regulated by PLZF-RARA fusion gene..     ///    PLZF-RARA fusion protein plays a crucial role in leukemogenesis. '), ('3660', 'MYH11_CBFB', '', 'MYH11', 'CBFB', '16193088', '104', '', 'PCR', '', '', '', '', '', '', '', 'Quantification of CBFB-MYH11 fusion gene levels in paired peripheral blood and bone marrow samples by real-time PCR.. '), ('3661', 'ETO_AML1', '', 'ETO', 'AML1', '16251025', '104', 'neuroectodermal tumor', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Furthermore, the RbAp46 expression levels were not correlated with the expression of the fusion genes of bcr/abl, PML-RARalpha, and multidrug resistant gene (mdr1), but were positively correlated with Wilms\' tumor gene (WT1) expression levels and negatively with AML1/ETO fusion gene expression. '), ('3662', 'PMX1_NUP98', '', 'PMX1', 'NUP98', '15182531', '104', 'myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' In order to investigate the leukemogenic potential of NUP98-PMX1 fusion gene in vivo.     ///    \"NIH3T3 cells transfected with NUP98-PMX1 fusion gene grew faster, formed colonies in soft agar, and developed tumors in 10 inoculated nude mice. \"    ///    \"NUP98-PMX1 transgenic mice were generated, in which the fusion gene was driven by hCG promoter and expressed in myeloid cells at early stage of differentiation. \"    ///    \"Among 8 disordered NUP98-PMX1 transgenic mice, 4 developed myeloid leukemia-like phenotype, including 3 resembling human chronic myeloid leukemia. \"    ///    Molecular cloning technology was used to construct NUP98-PMX1 transgenic plasmid.     ///    \"The genotype and phenotype of the NUP98-PMX1 transgenic mice were analyzed by PCR, RT-PCR, peripheral blood count (PBC), bone marrow (BM) cells morphology and pathological examination. \"    ///    NUP98-PMX1 has oncogenic activity and plays a crucial role in leukemogenesis..     ///    [Development of human myeloid leukemia-like phenotype in NUP98-PMX1 transgenic mice].. '), ('3663', 'KIAA1549_BRAF', '', 'KIAA1549', 'BRAF', '22591444', '104', 'pilocytic astrocytoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Among the 17 cases with KIAA1549-BRAF fusion gene 15 (88.2%) were oligodendroglial neoplasms.     ///    \" KIAA1549-BRAF fusion gene and isocitrate dehydrogenase (IDH) mutations are considered two mutually exclusive genetic events in pilocytic astrocytomas and diffuse gliomas, respectively. \"    ///    There were KIAA1549-BRAF fusion gene in 17 out of 180 (9.4%) cases and BRAF(v600E)  in 2 out of 133 (1.5%) cases.     ///    \"Our results suggest that in a small fraction of diffuse gliomas, KIAA1549-BRAF fusion gene and BRAF(v600E)  mutation may be responsible for deregulation of the Ras-RAF-ERK signaling pathway. \"    ///    The KIAA1549-BRAF fusion gene was evaluated by reverse-transcription polymerase chain reaction (RT-PCR) and sequencing.     ///    We investigated the presence of the KIAA1549-BRAF fusion gene in conjunction with IDH mutations and 1p/19q loss in 185 adult diffuse gliomas.     ///    \"In 11 of these 17 cases, both IDH mutations and the KIAA1549-BRAF fusion were present, as independent molecular events. \"    ///    KIAA1549-BRAF fusions and IDH mutations can coexist in diffuse gliomas of adults..     ///    \"Moreover, 6 of 17 cases showed co-presence of 1p/19q loss, IDH mutations and KIAA1549-BRAF fusion. \"'), ('3664', 'TEL_AML1', '', 'TEL', 'AML1', '22931632', '104', 'lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'BCR-ABL, TEL-AML1 fusion genes and WT1 gene were detected by real time RT-PCR simultaneously.     ///    \"The results showed that there was no significant differences such as WBC, Plt count and Hb level between the two groups at diagnosis, the positive rate of BCR-ABL, TEL-AML1 and WT1 gene was also no significantly different. \"'), ('3665', 'SEA_EGF', '', 'SEA', 'EGF', '25195273', '104', 'head and neck cancer', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Insert the fusion gene EGF-SEA into the expression vector PET-44.     ///     To construct expression vector for the SEA-EGF fusion gene.     ///    The fusion gene EGF-SEA was successfully constructed and was inserted into expression vector.     ///    \"The new recombinant expression vector for fusion gene EGF-SEA is specific for head and neck cancer, laid the foundation for the further study of fusion protein SEA-EGF targeting immune therapy in head and neck tumors.. \"    ///    [Construction and expression of the targeting super-antigen EGF-SEA fusion gene]..     ///    Induced the secretion of the fusion protein SEA-EGF by the antileptic. '), ('3666', 'KCNQ1OT1_KCNQ1', '11p15.5 / ', 'KCNQ1OT1', 'KCNQ1', '16624517', '104', '', 'PCR', '', '', '', '', '', '', '', ' The 11p15.5 region harbors three imprinted sense/antisense transcript pairs, SLC22A18/SLC22A18AS, IGF2/IGF2AS (PEG8), and KCNQ1/KCNQ1OT1 (LIT1). '), ('3667', 'IGF2AS_IGF2', '11p15.5 / ', 'IGF2AS', 'IGF2', '16624517', '104', '', 'PCR', '', '', '', '', '', '', '', ' The 11p15.5 region harbors three imprinted sense/antisense transcript pairs, SLC22A18/SLC22A18AS, IGF2/IGF2AS (PEG8), and KCNQ1/KCNQ1OT1 (LIT1). '), ('3668', 'ALL1_AF4', 't(4;11)  / t(4;11) / ', 'ALL1', 'AF4', '10607691', '104', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'A prospective study of residual-disease monitoring of the ALL1/AF4 transcript in patients with t(4;11) acute lymphoblastic leukemia..     ///     Twenty-five patients (22 adults and 3 infants) with ALL1/AF4-positive acute lymphoblastic leukemia (ALL) were prospectively monitored by reverse transcriptase-polymerase chain reaction (RT-PCR) between January 1992 and July 1999. '), ('3669', 'ETO_AML1', '', 'ETO', 'AML1', '25338564', '104', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', '(2)the expression level of Msi2 did not correlate with age, sex, white blood cell count of peripheral blood, AML1/ETO and PML/RARa fusion gene (P > 0.05). '), ('3670', 'TAL1_SIL', '', 'TAL1', 'SIL', '12859878', '104', 'leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', 'Of the 191 leukemic samples, 86 (45.0%) carried 14 types of fusion genes including SIL/TAL1, MLL/AF1q, E2A/PBX1, MLL/AF6, AML1/ETO, MLL/AF9, TEL/ABL, BCR/ABL, MLL/AF10, dupMLL, MLL/ENL, TEL/AML1, PML/RARalpha and CBFbeta/MYH11. '), ('3671', 'PAX3_FOXO1', '', 'PAX3', 'FOXO1', '19199574', '104', 'Waardenburg syndrome', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'In humans, mutations in the PAX3 gene cause Waardenburg syndrome, whereas a chromosomal translocation that generates a PAX3-FOXO1 fusion gene is associated with the development of alveolar rhabdomyosarcoma. '), ('3672', 'TFE3_RCC', '', 'TFE3', 'RCC', '16010549', '104', 'lactic acidosis;MELAS;renal cancer;renal cell carcinoma', '', '', '', '', '', '', '', '', 'We reported a case of a 2-year-old boy with RCC associated with TFE3 translocation resulting in a PRCC-TFE3 fusion gene. '), ('3673', 'BCL2_IGH', '', 'BCL2', 'IGH', '16482990', '104', 'hashimoto thyroiditis', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' To determine the diagnostic significance of the kappa/lambda ratio in germinal center (GC) B cells in Hashimoto thyroiditis (HT), we used 4-color flow cytometry to immunophenotype 27 samples (21 patients) of well-characterized HT B-cell clonality was analyzed further by polymerase chain reaction (PCR) of the immunoglobulin heavy chain (IgH) and bcl-2/IgH fusion genes using DNA extracted from aspirate smears and/or paraffin-embedded tissues. '), ('3674', 'IGH_BCL2', '', 'IGH', 'BCL2', '23257435', '104', 'non Hodgkin lymphoma;B cell lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'This study was aimed to explore the clinical significance of applying multiplex PCR to detect BCL2/IGH and BCL6/IGH fusion genes in DLBCL.     ///    [Clinical significance of rapid detecting bone marrow BCL2/IGH and BCL6/IGH fusion genes in patients with diffuse large B cell lymphoma by multiplex PCR]..     ///    \"The results showed that 12 patients (15%) carried BCL2/IGH or BCL6/IGH fusion genes, BCL2/IGH was found in 6 patients (7.5%), and BCL6/IGH in another 6 patients (7.5%). \"'), ('3675', 'HBG2_HBG1', '', 'HBG2', 'HBG1', '26179971', '104', 'thalassemia\r\r', 'PCR', '', '', '', '', '', '', '', 'Gap-PCR confirmed that they included a 1357 bp ?-globin gene deletion (NG_000007.3:g.69997_71353del1357) in one case and a HBG2-HBG1 fusion gene consisting of exons 1 and 2 of HBG2 ((G) ?-globin gene) and exon 3 of HBG1 ((A)?-globin gene) (HBG2:c.315 + 573_HBG1: c.315 + 572del) in two cases. '), ('3676', 'TEL_AML1', '', 'TEL', 'AML1', '23484694', '104', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The miR-223 levels in plasma had not displayed significant difference between TEL-AML1 positive patients and no fusion gene B lineage ALL patients either at ND or at CR. '), ('3677', 'KIAA1549_BRAF', '', 'KIAA1549', 'BRAF', '23095836', '104', 'pilocytic astrocytoma;medulloblastoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Some of the molecular features are so specific to a particular type of tumors, such as the presence of the KIAA1549-BRAF fusion gene for pilocytic astrocytomas or SMARCB1 mutations for atypical teratoid/rhabdoid tumors, that they could practically serve as a diagnostic marker on their own. '), ('3678', 'IL2_IL18', '', 'IL2', 'IL18', '22699929', '104', 'lung carcinoma', 'PCR', '', '', '', '', '', '', '', 'Human IL-18, IL-2 and the fusion gene IL18-IL2 were obtained by PCR, inserted into pBV220 vector and expressed in BL21 (DE3) by 42 ??C heat induction.     ///    \"Anti asialo GM1 could reduce natural killer cell cytotoxicity, production of IFN-?, and regression of LLC tumor aroused by IL18-IL2. \"    ///    \"IL18-IL2 was confirmed by Western blot, and its molecular weight was about 34.5 kDa. \"    ///    \"IL18-IL2 could significantly enhance production of IFN-? in PBMCs in vitro and induce significant tumor regression in tumor-bearing mouse models of LLC, NCI-H460 and HCT-116 than that of IL-18 and IL-2 separately or combination using. \"    ///    The biological activity of IL18-IL2 was first determined by its ability to augment IFN-? production in PBMCs.     ///    \"Then tumor-bearing mouse models of mouse Lewis lung carcinoma (LLC), human large cell lung carcinoma (NCI-H460) and human colorectal carcinoma (HCT-116) were established to investigate the antitumor activity and mechanism of IL18-IL2. \"    ///    \"In the mice bearing HCT-116 and LLC, IFN-? concentrations and natural killer cell cytotoxicity were highly enhanced by IL18-IL2. \"    ///     To obtain a human IL18-IL2 fusion protein by genetic engineering methods and investigate its antitumor activity and mechanism in tumor-bearing mouse models.     ///    \"These results suggested the IL18-IL2 fusion protein showed a synergetic effect on tumor regression, which was related to the great ability of IL18-IL2 in enhancing IFN-? production and natural killer cell cytotoxicity. \"'), ('3679', 'HSA_EPO', '', 'HSA', 'EPO', '21826990', '104', '', 'PCR', '', '', '', '', '', '', '', 'The results confirmed that HSA-EPO fusion gene can be expressed in the CHO cells, with EPO immunogenicity, which could serve as foundation for the development of long-lasting recombinant HSA-EPO protein..     ///    Restrictive enzymes digestion and DNA sequencing revealed that HSA-EPO fusion gene was cloned into expression vector pCI-neo successfully.     ///    The HSA-EPO production varied from 86 Iu/(mL x 10(6) x 72 h) to 637 IU/(mLx 10(6) x 72 h).     ///    \"After BamH I digestion, the HSA and LEPO was ligated to generate the fusion HSA-EPO gene and was then cloned into the expression vector pCI-neo to generate the recombinant plasmid pCI-HLE. \"'), ('3680', 'ROS1_CD74', '', 'ROS1', 'CD74', '26705279', '104', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', 'Seq', 'Moreover, in the 302 NSCLC samples studied, 3.97% (12/302) were found to contain ROS1 fusion genes, with CD74-ROS1 fusion identified in 9 cases. '), ('3681', 'BCR_ABL1', '', 'BCR', 'ABL1', '27111338', '104', 'chronic myeloid leukemia;myeloid leukemia;leukemia;polycythemia vera\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'V617F mutation in JAK2 was identified by allele-specific PCR method, RT-PCR was used for the detection of BCR/ABL1 fusion gene, and mutations and variations in coding exons and their flanking sequences of LNK gene were examined by PCR-sequencing.     ///    \"Missense mutations of A300V, V402M, and R415H in LNK were found in 8 patients including ET (4 cases, all combined with JAK2-V617F mutation), PV (2 cases, one combined with JAK2-V617F mutation), PMF (one case, combined with JAK2-V617F mutation) and CML (one case, combined with BCR/ABL1 fusion gene). \"'), ('3682', 'RET_PTC', '', 'RET', 'PTC', '26338373', '104', 'thyloid cancer\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'The prevalence of RET/PTC fusion genes was examined by quantitative RT-PCR.     ///    \"To improve risk stratification and patient management, we sought to determine the prognostic value of BRAF V600E, NRAS or RET/PTC mutations in patients with PTC measuring <20 ?mm, mainly microPTC. \"'), ('3683', 'MYH11_CBFB', '', 'MYH11', 'CBFB', '23114122', '104', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'It is concluded that a novel qPCR method for screening of CBFB-MYH11 fusion gene in AML is established.     ///     This study was purposed to establish new method for detecting CBFB-MYH11 fusion gene in acute myeloid leukemia (AML) and to evaluate its value in clinical use.     ///    \"This method is fast, comprehensive, sensitive, specific, reliable, and should consider to be a robust tool for identification and management of AML patients with CBFB-MYH11 fusion gene.. \"    ///    [Establishment of a new method for screening of CBFB-MYH11 fusion gene in acute myeloid leukemia and its value in clinical use]..     ///    \"All fusion types of reported CBFB-MYH11 fusion gene were defined by search of references and databank, then the primers and probes were designed on this basis, and 3 positive plasmids and negative cell line as control were established. \"    ///    \"The primer/probe sets were tested with 3 positive plasmids and HL-60 cDNA using quantitative real-time PCR (qPCR) assays, which were then combined as a multiplex qPCR for simultaneous detection of CBFB-MYH11 and GUSB. \"'), ('3684', 'BCR_ABL1', '', 'BCR', 'ABL1', '23810242', '104', 'chronic myeloid leukemia;myeloid leukemia;leukemia;hematologic malignancy\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The pathognomonic genetic alteration in chronic myeloid leukemia is the formation of the BCR-ABL1 fusion gene, which produces a constitutively active tyrosine kinase that drives leukemic transformation.     ///    BCR-ABL1 RT-qPCR for monitoring the molecular response to tyrosine kinase inhibitors in chronic myeloid leukemia..     ///    \"Real-time quantitative RT-PCR (RT-qPCR, also RQ-PCR) of BCR-ABL1 RNA is a necessary laboratory technique for monitoring the efficacy of tyrosine kinase inhibitor therapy and quantitatively assessing minimal residual disease. \"    ///    The molecular response measured by BCR-ABL1 RT-qPCR assists in identifying suboptimal responses and can help inform the decision to switch to alternative therapies that may be more efficacious (or to pursue more stringent monitoring). '), ('3685', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '16089297', '104', 'leukemia;hypereosinophilic syndrome\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The identification of the FIP1L1-PDGFRA fusion gene provides a molecular explanation for the pathogenesis of approximately half of the patients with the hypereosinophilic syndrome (HES).     ///    \"All imatinib treated FIP1L1-PDGFRA positive CEL patients achieve hematological and cytogenetic remission, and the majority of patients also achieve a molecular remission with the fusion gene no longer detectable in blood, even by the most sensitive PCR techniques.. \"    ///    \"FIP1L1-PDGFRA positive CEL patients respond very well to imatinib therapy, some of which are remarkable responses with normalization of the blood counts within 2 weeks after start of the therapy. \"    ///    \"A diagnostic test to identify FIP1L1-PDGFRA positive HES cases (subsequently reclassified as chronic eosinophilic leukemia, CEL) is now available. \"'), ('3686', 'CYP21A2_CYP21A1P', '', 'CYP21A2', 'CYP21A1P', '11431859', '104', 'congenital adrenal hyperplasia\r\r', 'PCR', '', '', '', '', '', '', '', 'During the course of genetic analysis of CYP21A2, we found that misgenotyping of CAH by PCR-based method is possible if both alleles of a CAH patient were deletion mutations and at least one of them carried a CYP21A1P-CYP21A2 fusion gene. '), ('3687', 'MOZ_CBP', 't(8;16)(p11;p13) / ', 'MOZ', 'CBP', '12378533', '104', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'RT-PCR analysis of acute myeloid leukemia with t(8;16)(p11;p13): identification of a novel MOZ/CBP transcript and absence of CBP/MOZ expression.. '), ('3688', 'NPM_ALK', '', 'NPM', 'ALK', '23978023', '104', 'anaplastic large cell lymphoma;lymphoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', '[Prognostic significance of the NPM-ALK fusion gene in bone marrow and peripheral blood for patients with anaplastic large cell lymphoma]..     ///     To investigate the expression of NPM- ALK fusion gene in bone marrow (BM) and peripheral blood (PB) in anaplastic large cell lymphoma (ALCL) patients and its prognostic significance.     ///    \"NPM- ALK fusion gene of 21 BM and 15 PB samples from patients with NPM-ALK positive ALCL was detected by RT- PCR, and the relationship between NPM- ALK expression and prognosis and clinical characters was evaluated. \"    ///    We could evaluate the minimal disseminated disease of NPM-ALK positive ALCL patients by screening the NPM-ALK fusion gene in BM and PB by RT-PCR.     ///    86.7% patients had a concordant results of NPM-ALK expression in PB and BM.     ///    \"Patients with a positive NPM-ALK expression in BM had a 3-years EFS of (35.6??18.6)%, compared with (91.7??8.0)% for patients with negative NPM-ALK (P=0.038). \"'), ('3689', 'MECOM_AML1', '', 'MECOM', 'AML1', '19118011', '104', 'myeloproliferative disorder;polycythemia vera\r\r', '', '', 'Oncogene', '', '', '', '', '', 'Recently, the chromosomal translocation 3;21, leading to the fusion gene AML1/MDS1/EVI1 (AME), was observed in an ET patient. '), ('3690', 'SLC22A18AS_SLC22A18', '11p15.5 / ', 'SLC22A18AS', 'SLC22A18', '16624517', '104', '', 'PCR', '', '', '', '', '', '', '', ' The 11p15.5 region harbors three imprinted sense/antisense transcript pairs, SLC22A18/SLC22A18AS, IGF2/IGF2AS (PEG8), and KCNQ1/KCNQ1OT1 (LIT1).     ///    \"Random hexamer-primed cDNA synthesis, SLC22A18/SLC22A18AS-specific PCR, and imprinting evaluation by commercial sequencing demonstrated that SLC22A18AS displays a nonimprinted profile in reduction mastectomies (n = 6). \"'), ('3691', 'CNS2_AS1', '', 'CNS2', 'AS1', '11553923', '104', '', 'PCR', '', '', '', '', '', '', '', 'Next, a fusion gene composed from bovine aS1-casein promoter and a human GH structural gene (2.8 kb) was microinjected into the pronucleus of rabbit zygotes frozen-thawed in ethylene glycol and sucrose. '), ('3692', 'PBX1_E2A', '', 'PBX1', 'E2A', '26759098', '104', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', '', '', '', 'Transcription_Factor', '', '', '[Clinical significance of monitoring E2A- PBX1 fusion gene expression in patients with allogeneic hematopoietic stem cell transplantation]..     ///    \"The expression of E2A- PBX1 and minimal residual disease ??RD??evel examined by flow cytometry were positive correlated??pearman r=0.743, P=0.002??. \"'), ('3693', 'MYH11_ABL1', 'inv(16) / inv(16)  / ', 'MYH11', 'ABL1', '11781223', '104', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'A reliable and sensitive (10(-5)) real-time RT-PCR assay was set up for the evaluation of relevant CBFbeta-MYH11/ABL transcript ratios and was applied to the 21 patients with inv(16) AML routinely referred for cytogenetic and molecular monitoring in Ser?gnoli Institute (Bologna, Italy) since 1990. '), ('3694', 'BCR_ABL1', '', 'BCR', 'ABL1', '24460325', '104', '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 cell scarrying the Philadelphia (Ph) chromosome and an oncogenic BCR-ABL1 fusion gene.     ///    The tyrosine kinase inhibitor (TKI) of BCR-ABL1 kinase is a treatment of choice for control of CML. '), ('3695', 'ETO_AML1', '', 'ETO', 'AML1', '24598642', '104', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'NPM1 mutation can co-exists with FLT3-ITD and IDH1 mutation, but not with AML1-ETO, PML-RARA or CBF-MYH11 fusion genes..     ///    \"NPM1 mutation was not detected in AML with AML1-ETO, PML-RARA or CBF-MYH11 fusion genes. \"'), ('3696', 'IGH_BCL6', '', 'IGH', 'BCL6', '23257435', '104', 'non Hodgkin lymphoma;B cell lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', '', '', '', 'This study was aimed to explore the clinical significance of applying multiplex PCR to detect BCL2/IGH and BCL6/IGH fusion genes in DLBCL.     ///    \"The results showed that 12 patients (15%) carried BCL2/IGH or BCL6/IGH fusion genes, BCL2/IGH was found in 6 patients (7.5%), and BCL6/IGH in another 6 patients (7.5%). \"    ///    [Clinical significance of rapid detecting bone marrow BCL2/IGH and BCL6/IGH fusion genes in patients with diffuse large B cell lymphoma by multiplex PCR].. '), ('3697', 'KIAA1549_BRAF', '', 'KIAA1549', 'BRAF', '25382612', '104', 'rhabdoid tumor', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'KIAA1549:BRAF fusion gene in pediatric brain tumors of various histogenesis..     ///     The KIAA1549:BRAF fusion gene is considered a driver genetic event in pilocytic astrocytoma.     ///    \"We detected the KIAA1549:BRAF fusion gene in five of 34 non-PA tumors (14.7%), that is, one glioblastoma, one anaplastic astrocytoma, one anaplastic pleomorphic xanthoastrocytoma, 1 ependymoma, and 1 Atypical Teratoid Rhabdoid Tumor. \"'), ('3698', 'MLL_AF9', '', 'MLL', 'AF9', '12649202', '104', '', '', '', '', '', '', '', '', '', 'Using the CD95 apoptotic signaling pathway in human lymphoblastoid cells, the 5\' fragment of MLL undergoes translocation to intron 4 of AF9 and the proleukemogenic MLL-AF9 fusion gene created is transcribed. '), ('3699', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '7577620', '104', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'We have developed a titration assay using a competitive reverse transcriptase polymerase chain reaction (RT-PCR) which is able to estimate the number of AML1/ETO transcripts so that minimal residual disease (MRD) can be monitored quantitatively in patients with t(8;21) acute myelogenous leukaemia (AML).     ///    \"Using a qualitative RT-PCR method, AML1/ETO transcripts could be detected in all samples from 15 first PBSC harvests and 11 second PBSC harvests obtained from 15 patients with t(8;21) AML. \"    ///    Quantitative analysis of AML1/ETO transcripts in peripheral blood stem cell harvests from patients with t(8;21) acute myelogenous leukaemia..     ///    \"With our competitive RT-PCR assay, the number of AML1/ETO transcripts was found to be lower in the second PBSC harvest than that in the first in every individual. \"    ///    \"In 10 patients who received autologous blood stem cell transplantation (ABSCT), we could not find a relationship between the number of AML1/ETO transcripts in the infused PBSC harvests and the clinical outcome after ABSCT. \"'), ('3700', 'RUNX1T1_RUNX1', '', 'RUNX1T1', 'RUNX1', '20849840', '104', 'hematologic malignancy\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'We developed an allele-specific quantitative polymerase chain reaction (AS-qPCR) for FLT3 2503G>T, KIT 2446G>T, and KIT 2447A>T and compared the change in the expression levels of the FLT3 or KIT mutations assessed by AS-qPCR to those of the RUNX1-RUNX1T1 fusion gene and WT1 by conventional quantitative PCR.     ///    The change in the expression levels of the FLT3 or KIT mutations at the time of relapse and just after hematopoietic stem cell transplantation correlated well with that of the RUNX1-RUNX1T1 fusion gene and WT1. '), ('3701', 'STAT6_NAB2', '', 'STAT6', 'NAB2', '24625420', '104', 'solitary fibrous tumor\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Molecular analyses have discovered that almost all SFTs harbor an NAB2-STAT6 fusion gene, which is considered specific to this tumor type. '), ('3702', 'SYT_SSX', '', 'SYT', 'SSX', '20533736', '104', 'synovial sarcoma;neuroectodermal tumor;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'RT-PCR to examine the gene expression of cells revealed a SYT-SSX fusion gene, and a diagnosis of primary synovial sarcoma of the lung was made.. '), ('3703', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '15748440', '104', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'It is concluded that real-time RT-PCR is a suitable approach for quantifying AML1/ETO transcripts in monitoring of AML patients with t(8;21) during/after chemotherapy and provides data of diagnostic relevance..     ///     This study was aimed to investigate the clinical value of quantification of AML1/ETO fusion transcripts using real-time reverse transcription PCR.     ///    [Clinical significance of detection of AML1/ETO fusion transcripts in childhood AML using real-time quantitative reverse transcription polymerase chain reaction]..     ///    \"In another patient, a rapid rise of AML1/ETO transcripts could be detected at CR stage and he relapsed 5 months later. \"    ///    AML1/ETO was quantified according to the expression of the GAPDH housekeeping gene at new diagnosis and during/after chemotherapy and transplantation.     ///    \"Six patients showed a slight decline of AML1/ETO (higher than 5 x 10(-2)) at 1 month, three of whom relapsed in the early stage and one later. \"    ///    The AML1/ETO gene expression leveling off by 10(-5) - 10(-6) could be detected in 3 patients at their complete remission after 9 months.     ///    A serial dilution of AML1/ETO plasmid was used as a template for the AML1/ETO real-time PCR.     ///    \"The results showed that the ratio of AML1/ETO: GAPDH expression level at new diagnosis varied in the range 0.219-2.080 (median 0.648) among the patients, without relevance with percentage of blasts. \"    ///    Fourteen AML1/ETO positive children out of 52 AML children were selected. '), ('3704', 'ETO_AML1', '', 'ETO', 'AML1', '25338557', '104', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', '[FLT3 gene overexpression and its clinical significance in acute myeloid leukemia with AML1/ETO fusion gene positive]..     ///    \" This study was aimed to investigate the expression levels of FLT3 gene in AML-M2 patients carrying AML1/ETO fusion gene, and analyze its relation with clinical and laboratorial features and prognosis. \"    ///    It is concluded that FLT3 gene high expression in AML-M2 patients with AML1/ETO(+) have a higher rate of relapse and hence poor prognosis.     ///    RQ-PCR method was used to detect the expression level of FLT3 in bone marrow of 21 AML-M2 patients with AML1/ETO(+). '), ('3705', 'MYH11_CBFB', 't(8;21)  / inv(16) / inv(16)  / ', 'MYH11', 'CBFB', '22875911', '104', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'At remission, after course 1 induction chemotherapy, a > 3 log reduction in RUNX1-RUNX1T1 transcripts in BM in t(8;21) patients and a > 10 CBFB-MYH11 copy number in peripheral blood (PB) in inv(16) patients were the most useful prognostic variables for relapse risk on multivariate analysis. ');
INSERT INTO `ChimerPub_dump` VALUES ('3706', 'P53_P21', '', 'P53', 'P21', '12839645', '104', 'squamous cell carcinoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Transfection of p53/p21 fusion gene to Tca8113 cells could inhibit the tumor cell proliferation and clone formation in vitro, and make itself a potential fusion gene for the gene therapy of human oral squamous cell carcinoma..     ///    RT-PCR and Western blot demonstrated that it was the expression of exogenous p53/p21 fusion gene that led to the above results.     ///    RT-PCR and Western blot were used to demonstrate the expression of p53/p21 fusion gene.     ///    It was observed that p53/p21 fusion gene could inhibit clonal formation and proliferation of human oral carcinoma.     ///    [Cloning of p53/p21 fusion gene and it\'s inhibitory effect on the growth in Tca8113 cells]..     ///     To study the p53/p21 fusion gene as a potential fusion gene for the gene therapy of human oral squamous cell carcinoma.     ///    The recombinant plasmid pcDNA-p53/p21 was constructed by inserting the p53/p21 fusion gene into eukaryotic expression vector pcDNA3.1 and subsequently transfected into human oral squamous cell carcinoma cell line (Tca8113) with lipofectamine. '), ('3707', 'BCR_ABL1', '', 'BCR', 'ABL1', '26306065', '104', 'essential thrombocythemia;polycythemia vera;primary myelofibrosis', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'RT-PCR testing was negative for BCR-ABL1 fusion gene in all the patients. '), ('3708', 'RARA_PML', '', 'RARA', 'PML', '24598642', '104', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'NPM1 mutation can co-exists with FLT3-ITD and IDH1 mutation, but not with AML1-ETO, PML-RARA or CBF-MYH11 fusion genes..     ///    \"NPM1 mutation was not detected in AML with AML1-ETO, PML-RARA or CBF-MYH11 fusion genes. \"'), ('3709', 'ETO_AML1', '', 'ETO', 'AML1', '25286696', '104', 'acute myeloid leukemia', 'PCR', '', '', '', '', '', '', '', ' To determine the expression level of GATA-2 gene in acute myeloid leukemia with maturation (AML-M2) patients carrying AML1/ETO fusion gene.     ///    Bone marrow samples were collected from 23 patients with de novo adult AML-M2 carrying AML1/ETO fusion gene.     ///    \"Therefore, AML-M2 patients with AML1/ETO fusion gene and high expression of GATA-2 would possibly benefit from additional treatments except for chemotherapy.. \"    ///    [GATA-2 gene overexpression and its clinical significance in acute myeloid leukemia with AML1/ETO fusion gene]..     ///    High expression level of GATA-2 in AML-M2 patients with AML1/ETO is associated with high risk of relapse and poor prognosis. '), ('3710', 'IGH_BCL2', '', 'IGH', 'BCL2', '21309729', '104', 'follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' The determination of polymerase chain reaction (PCR) amplification product sizes of the Bcl-2/IgH fusion gene from follicular lymphoma (FL) provides evidence of clonal identity.     ///    The microcapillary electrophoretic chip system effectively detects size differences among the Bcl-2/IgH fusion gene amplification products of FL from patient samples.     ///    \"The simple detection of Bcl-2/IgH fusion gene clonality using a microcapillary electrophoretic chip provides reliable information for monitoring minimal residual disease of FL, and can be an effective tool for use in clinical laboratories.. \"    ///    \"The present study describes detection of Bcl-2/IgH fusion gene clonality utilizing a small, simple microcapillary electrophoretic chip combined with a real-time PCR method. \"    ///    Identification of Bcl-2/IgH fusion sequences using real-time PCR and chip-based microcapillary electrophoresis.. '), ('3711', 'ETO_AML1', 't(8;21)  / t(8;21) / ', 'ETO', 'AML1', '7996871', '104', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' Seven patients with acute myeloid leukaemia (AML) type M2 and t(8;21), treated with intensive chemotherapy followed in two cases by allogeneic or autologous bone marrow transplant (BMT), were tested for the presence of transcripts of the characteristic chimaeric gene AML1/ETO by reverse transcriptase polymerase chain reaction (RT-PCR) at serial intervals during remission. '), ('3712', 'NUP214_ABL1', '', 'NUP214', 'ABL1', '24533689', '104', 'T ALL;leukemia;breast cancer;pancreatic cancer\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'It was reported that the T-ALL cell lines, ALL-SIL, BE13 and LOUCY, harbored the fusion gene NUP214-ABL1, NUP214-ABL1 and SET-NUP214, respectively. '), ('3713', 'PAX7_FKHR', '', 'PAX7', 'FKHR', '19008039', '104', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', '13) translocations, involving PAX3-FKHR and PAX7-FKHR fusion genes, respectively.     ///    \"We will also review the structure and function of alternate transcripts of PAX3, PAX7, FKHR and the fusion genes PAX3-FKHR and PAX7-FKHR, and discuss the role of these genes and their downstream targets in development of ARMS. \"'), ('3714', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '19008039', '104', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', '13) translocations, involving PAX3-FKHR and PAX7-FKHR fusion genes, respectively.     ///    \"We will also review the structure and function of alternate transcripts of PAX3, PAX7, FKHR and the fusion genes PAX3-FKHR and PAX7-FKHR, and discuss the role of these genes and their downstream targets in development of ARMS. \"'), ('3715', 'MLL_MLLT11', '', 'MLL', 'MLLT11', '12859878', '104', 'leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', '', 'Of the 191 leukemic samples, 86 (45.0%) carried 14 types of fusion genes including SIL/TAL1, MLL/AF1q, E2A/PBX1, MLL/AF6, AML1/ETO, MLL/AF9, TEL/ABL, BCR/ABL, MLL/AF10, dupMLL, MLL/ENL, TEL/AML1, PML/RARalpha and CBFbeta/MYH11. '), ('3716', 'PAX3_FOXO1A', '', 'PAX3', 'FOXO1A', '24453992', '104', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The alveolar subtype harbors a translocation-mediated PAX3:FOXO1A fusion gene and has an extremely poor prognosis.     ///    \"Using a conditional genetic mouse model as well as human tumor cell lines, we show that that Pax3:Foxo1a expression is enriched in G2 and triggers a transcriptional program conducive to checkpoint adaptation under stress conditions such as irradiation in vitro and in vivo. \"    ///    \"Thus, the surprisingly dynamic regulation of the Pax3:Foxo1a locus is a paradigm that has important implications for the way in which oncogenes are modeled in cancer cells. \"    ///    Pax3:Foxo1a also tolerizes tumor cells to clinically-established chemotherapy agents and emerging molecularly-targeted agents. '), ('3717', 'RUNX1T1_RUNX1', 't(8;21)  / inv(16) / inv(16)  / ', 'RUNX1T1', 'RUNX1', '22875911', '104', '', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'At remission, after course 1 induction chemotherapy, a > 3 log reduction in RUNX1-RUNX1T1 transcripts in BM in t(8;21) patients and a > 10 CBFB-MYH11 copy number in peripheral blood (PB) in inv(16) patients were the most useful prognostic variables for relapse risk on multivariate analysis. '), ('3718', 'ETO_AML1', '', 'ETO', 'AML1', '23998570', '104', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', '[C-kit mutation in acute myeloid leukemia patients with AML1-ETO fusion gene and its clinical significance]..     ///    PCR and sequencing methods were used to detect the c-kit 17 exon mutations in 31 AML patients with AML1-ETO.     ///    It is concluded that the c-kit mutation is frequent in AML patients with AML1-ETO and the c-kit mutated patients have a poor prognosis.     ///     This study was aimed to investigate the c-kit mutation in acute myeloid leukemia (AML) patients with AML1-ETO and analyze its relation with clinical and laboratorial features and prognosis. '), ('3719', 'SYT_SSX', '', 'SYT', 'SSX', '15467731', '104', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'They are molecular-genetically characterized by the SYT-SSX fusion gene generated from chromosomal translocation t(X.     ///    \"SYT, a partner of SYT-SSX oncoprotein in synovial sarcomas, interacts with mSin3A, a component of histone deacetylase complex.. \"'), ('3720', 'SYT_SSX', '', 'SYT', 'SSX', '14576825', '104', 'synovial sarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', 'In this study, we used antisense oligonucleotides to block the expression of the SYT-SSX fusion gene in synovial sarcoma cells.     ///    Gene expression profile by blocking the SYT-SSX fusion gene in synovial sarcoma cells.     ///     Increasing evidence suggests that the SYT-SSX fusion gene plays an important role in synovial sarcoma development and progression.     ///    \"Our study provides some clues to elucidate the signaling pathways of the SYT-SSX fusion gene, as well as it demonstrates a valuable model system for search for other SYT-SSX targets.. \"    ///    \"Herewith, using a filter containing 1176 cancer-relevant genes, we found that the DNA repair gene XRCC4 and the DNA mismatch repair gene MSH2 were downregulated, whereas the gene encoding for the serine/threonine protein kinase PRK (also known as CNK), and the macrophage inhibitory cytokine MICI (also known as PLAB) were upregulated after the inhibition of SYT-SSX. \"    ///    \"Consistently, the protein expression of XRCC4 was found to be decreased after SYT-SSX inhibition, whereas there were no detectable changes for the other gene products. \"    ///    \"However, very little is known about the downstream targets of SYT-SSX. \"    ///    \"By comparing SYT-SSX inhibited cells with noninhibited cells, the gene expression profile was analysed using cDNA microarray and established by real-time PCR. \"    ///    Identification of XRCC4 as a putative SYT-SSX target gene.. '), ('3721', 'NPM_ALK', '', 'NPM', 'ALK', '23678368', '104', 'breast cancer', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'plasma cfDNA levels obtained at diagnosis in 201 paediatric lymphoma patients [43 Hodgkin lymphomas (HL), 45 anaplastic large cell lymphomas (ALCL), 88 Burkitt lymphomas (BL), 17 lymphoblastic (LBL), 8 diffuse large B cell lymphoma (DLBCL)] and 15 healthy individuals were determined using a quantitative PCR assay for POLR2 gene and, in addition, for NPM-ALK fusion gene in ALCL patients. '), ('3722', 'ETO_AML1', '', 'ETO', 'AML1', '19175988', '104', 'leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The synthesized siRNAs can inhibit AML1 -ETO fusion gene expression.     ///    \" By inhibiting AML1 -ETO fusion gene expression in Kasumi-1 cells with RNAi, to investigate the changes in cell proliferation and cell cycle. \"    ///    \"The small interference RNAs (siRNAs) specifically targeting the AML1 -ETO fusion gene were synthesized in vitro and transfected into Kasumi-1 cells by electroporation, the non-specific siRNAs transfected cells were taken as control. \"    ///    [Inhibitory effect of Rnai on AML1 -ETO fusion gene expression in leukemia cells]..     ///    The AML1 -ETO specific siRNAs inhibited AML1 -ETO expression at both mRNA and protein levels.     ///    \"AML1 -ETO specific siRNA induced the decline of AML1 -ETO fusion protein in Kasumi-1 cell, and then caused the cell cycle blocked in G1 stage and eventually inhibited the cell proliferation.. \"'), ('3723', 'MLL_FOXO4', '', 'MLL', 'FOXO4', '12192052', '104', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', '', ' MLL-AFX is a fusion gene created by t(X;11) chromosomal translocations in a subset of acute leukemias of either myeloid or lymphoid derivation.     ///    \"Rather, two conserved transcriptional effector domains (CR2 and CR3) of AFX are required for full oncogenicity of MLL-AFX and also endow it with the potential to competitively interfere with transcription and apoptosis mediated by wild-type forkhead proteins. \"    ///    \"Taken together, these data suggest that recruitment of transcriptional cofactors utilized by forkhead proteins is a critical requirement for oncogenic action of MLL-AFX, which may impact both MLL- and forkhead-dependent transcriptional pathways.. \"    ///    \"MLL-AFX interacts with the transcriptional coactivator CBP, which is also a fusion partner for MLL in human leukemias. \"    ///    MLL-AFX requires the transcriptional effector domains of AFX to transform myeloid progenitors and transdominantly interfere with forkhead protein function..     ///    We demonstrate here that forced expression of MLL-AFX enhances the self-renewal of hematopoietic progenitors in vitro and induces acute myeloid leukemias after long latencies in syngeneic recipient mice.     ///    A potent minimal transactivation domain (CR3) at the C terminus of AFX mediates interactions with the KIX domain of CBP and is necessary for transformation of myeloid progenitors by MLL-AFX.     ///    \"Furthermore, a dominant-negative mutant of AFX containing CR2 and CR3 enhances the growth of myeloid progenitors in vitro, although considerably less effectively than does MLL-AFX. \"'), ('3724', 'MALT1_API2', '', 'MALT1', 'API2', '17274374', '103', 'MALT lymphoma;B cell lymphoma;lymphoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'BCL-10 nuclear expression was correlated with API2-MALT1 fusion gene transcript (r = 0.     ///    RT-PCR was used to detect the transcripts of API2-MALT1 fusion gene.     ///    BCL-10 nuclear expression is correlated with API2-MALT1 fusion gene expression in MALT lymphoma..     ///     To investigate the relationship of BCL-10 protein and API2-MALT1 fusion gene in MALT lymphoma.     ///    API2-MALT1 fusion gene was detected in 35 cases (40.     ///    [Expression of BCL-10 protein and the relationship with API2-MALT1 fusion gene in extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue].. '), ('3725', 'TEL_AML1', 't(12;21)(p13;q22) / ', 'TEL', 'AML1', '11157492', '103', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' TEL-AML1 fusion resulting from the t(12;21)(p13;q22) is one of the most common genetic abnormalities in childhood acute lymphoblastic leukemia.     ///    TEL-AML1 fusion transcripts were also identified by reverse transcriptase-polymerase chain reaction (RT-PCR) analysis in cell lines treated by serum starvation or aminophylline.     ///    We also examined 67 cord blood and 147 normal peripheral blood samples for the existence of in-frame TEL-AML1 fusion transcripts.     ///    \"This study demonstrates a possible relationship between exposure to apoptogenic stimuli, TEL breaks, and the formation of TEL-AML1 fusion in immature B lymphocytes. \"'), ('3726', 'SYT_SSX1', '', 'SYT', 'SSX1', '14649326', '103', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The tumor expressed a sequence of SYT-SSX1 fusion gene transcript demonstrated by RT-PCR. '), ('3727', 'FUS_CHOP', '', 'FUS', 'CHOP', '15796878', '103', 'liposarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'All 60 negative control cases were negative for the FUS-CHOP fusion gene transcripts.     ///    [Detection of FUS-CHOP fusion gene in paraffin-embedded tissues and its clinicopathologic significance for myxoid/round cell liposarcomas]..     ///    \" To explore the feasibility of detecting FUS-CHOP fusion gene in formalin-fixed, paraffin-embedded tissue and its application in the diagnosis and differential diagnosis of myxoid/round cell liposarcomas (MRCLs). \"    ///    Type I FUS-CHOP fusion transcript was not detected in any MRCLs in this study.     ///    Type II FUS-CHOP fusion transcript was successfully detected in 20 out of 39 (51.3%) MRCL cases.     ///    \"Nested reverse transcription-polymerase chain reaction (RT-PCR) technique was employed to detect the FUS-CHOP mRNA expression, followed by DNA sequencing confirmation of the PCR product. \"    ///    (2) FUS-CHOP is considered a specific molecular and genetic hallmark for MRCLs.     ///    \"(1) Nested RT-PCR can be used to detect FUS-CHOP mRNA in formalin-fixed, paraffin-embedded tissues. \"    ///    \"Nested RT-PCR is a sensitive and specific technique in detecting FUS-CHOP gene, and can be used in the diagnosis and differential diagnosis of MRCLs.. \"'), ('3728', 'MALT1_API2', '', 'MALT1', 'API2', '15696476', '103', 'MALT lymphoma;B cell lymphoma;lymphoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' To investigate the frequency of different variant of API2-MALT1 fusion gene in extranodal marginal zone B-cell lymphoma of mucosa-associated tissue(MALT1) lymphoma and the correlation between API2-MALT1 transcript and apoptosis of MALT lymphoma.     ///    [The frequency of API2-MALT1 fusion gene variants in MALT lymphoma and its correlation with apoptosis of MALT lymphoma]..     ///    The API2-MALT1 fusion transcripts were detected in 62 cases of MALT lymphoma by reverse transcription-polymeras chain reaction(RT-PCR) and Nested PCR.     ///    The frequency of API2-MALT1 transcript was lower in thyroid MALT lymphoma(1/12) but similar in pulmonary and gastrointestinal MALT lymphoma.     ///    API2-MALT1 transcript was detected in 28 of 62 cases with MALT lymphoma (45.16%).     ///    API2-MALT1 transcript displayed variable frequency in MALT lymphomas of different sites.     ///    API2-MALT1 transcript was confirmed to be associated with the levels of apoptosis and API2 of MALT lymphoma..     ///    Two kinds of API2-MALT1 variants (A1446-M1123 and A1446-M814) were detected.     ///    A1446-M1123 was noted to be probably the main type of API2-MALT1 variant in MALT lymphoma of Chinese.     ///    \"In the group of API2-MALT1(+), the apoptosis index was higher and the API2 mRNA and protein were lower when compared against those in the group of API2MALT1(-). \"'), ('3729', 'MALT1_API2', '', 'MALT1', 'API2', '15256115', '103', 'MALT lymphoma;lymphoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' To investigate the feasibility of detecting API2-MALT1 fusion gene transcript in paraffin-embedded tissue and its diagnostic value for pulmonary MALT lymphoma.     ///    [Detection of API2-MALT1 fusion gene transcript and its diagnostic value in pulmonary MALT lymphoma]..     ///    The presence of API2-MALT1 fusion gene may be correlated with a subset of pulmonary MALT lymphomas that have limited lung involvement..     ///    Detection of API2-MALT1 fusion transcript in paraffin-embedded tissues is feasible by nested RT-PCR and is of diagnostic value.     ///    The API2-MALT1 fusion transcript was found in 3 of 10 pulmonary MALT lymphomas (30%) and in none of the 5 chronic lymphadenitis cases.     ///    Detection of the API2-MALT1 fusion transcript was performed by RT-PCR followed by second-round PCR using nested primers. '), ('3730', 'TEL_AML1', '', 'TEL', 'AML1', '11091202', '103', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' We analysed 67 samples from Brazilian children of diverse ethnic origins with acute lymphoblastic leukaemia (ALL) for the presence of the TEL-AML1 fusion gene transcripts using reverse transcription polymerase chain reaction (RT-PCR).     ///    TEL-AML1 fusion gene frequency in paediatric acute lymphoblastic leukaemia in Brazil..     ///    \"We conclude that the frequency, age, distribution and clinical features of the TEL-AML1 fusion gene-positive ALL is similar in the diverse ethnic backgrounds of the Brazilian children to that in other countries with predominantly white Caucasian or oriental ethnicity. \"'), ('3731', 'SYT_SSX1', '', 'SYT', 'SSX1', '10446966', '103', 'synovial sarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', 'On the other hand, no association was found between the IGF-1R and type of fusion gene transcript (SYT-SSX1 or SYT-SSX2). '), ('3732', 'MLL_ENL', '', 'MLL', 'ENL', '16151462', '103', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Efficient and easy detection of MLL-AF4, MLL-AF9 and MLL-ENL fusion gene transcripts by multiplex real-time quantitative RT-PCR in TaqMan and LightCycler.. '), ('3733', 'NUP214_ABL1', '', 'NUP214', 'ABL1', '16873673', '103', 'T ALL\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The NUP214-ABL1 fusion gene in T-cell acute lymphoblastic leukemia (T-ALL) has recently been identified as a possible target for imatinib and related tyrosine kinase inhibitors, but exact data regarding the prognostic impact and frequency of the several putative NUP214-ABL1 mRNA transcripts are still missing.     ///    \"Based on the results, we have established and tested a novel PCR method for simplified detection of the NUP214-ABL1 fusion gene.. \"    ///    \"Eleven (3.9%) patients were NUP214-ABL1 positive, and 5 different transcripts were observed. \"    ///    NUP214-ABL1 in adult T-ALL: the GMALL study group experience..     ///    \"We investigated 279 adult patients with T-ALL treated within the framework of the GMALL 5/93 and 6/99 therapy trials for NUP214-ABL1 by using a novel multiplex real-time, quantitative polymerase chain reaction (PCR). \"'), ('3734', 'BCR_ABL1', 't(9;22)(q34;q11) / ', 'BCR', 'ABL1', '16341034', '103', 'idiopathic myelofibrosis', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The archetype of this class of hematological diseases is chronic myeloid leukemia (CML), characterized by the presence of the Philadelphia (Ph) chromosome, the result of t(9;22)(q34;q11), and the associated BCR-ABL1 oncogene. '), ('3735', 'ETV6_AML1', 't(12;21)(p13;q22) / t(12;21)  / ', 'ETV6', 'AML1', '11167742', '103', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Our study shows that (i) RT-PCR is the most effective approach for the detection of t(12;21) in childhood ALL, (ii) the association of ETV6/AML1 and chromosome 12 and/or 21, seen in 56% of our cases, further confirms existing data, (iii) overall survival of patients with t(12;21) was not better than other cytogenetics groups, and (d) MRD analysis using ETV6/AML1 fusion is specific, but not sensitive enough to avoid false negative results..     ///    \"The aim of this study was threefold: (i) to assess the frequency and clinical association of the fusion gene in patients with and without a cytogenetically detectable chromosome 12 and/or 21 abnormality or failed cytogenetic results, (ii) to characterize alternative forms of ETV6/AML1 transcripts, and (iii) to use ETV6/AML1 as a molecular marker for the investigation of minimal residual disease (MRD). \"    ///    ETV6/AML1 fusion was detected in 22 (39%) of 56 cases studied by reverse transcriptase polymerase chain reaction (RT-PCR).     ///    The presence of ETV6/AML1 was associated with a lower white blood cell count (Student\'s t-test.     ///    Alternatively spliced ETV6/AML1 forms were investigated in 14 of the positive patients.     ///    \"Analysis of ETV6/AML1 abnormalities in acute lymphoblastic leukaemia: incidence, alternative spliced forms and minimal residual disease value.. \"    ///    \"ETV6/AML1 fusion was found in nine out of 16 (56%) cases with a cytogenetically visible chromosome 12 abnormality, but also in nine out of 29 patients (31%) without a chromosome 12 abnormality or patients with failed cytogenetics (four out of 11 patients, 36%), making this the most common cytogenetic abnormality in childhood ALL. \"'), ('3736', 'SYT_SSX', '', 'SYT', 'SSX', '11224613', '103', 'synovial sarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', 'In this patient, the SYT-SSX fusion gene transcript was detected by nested polymerase chain reaction (PCR) in the peripheral blood collected before biopsy.     ///    Detection of SYT-SSX fusion gene in peripheral blood from a patient with synovial sarcoma.. '), ('3737', 'NUP98_HOXA11', 't(7;11)(p15;p15) / ', 'NUP98', 'HOXA11', '19338047', '103', 'myeloid leukemia', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Juvenile myelomonocytic leukemia with t(7;11)(p15;p15) and NUP98-HOXA11 fusion..     ///    We suggest the possibility that AML chemotherapy might be effective for treating JMML with t(7;11)(p15;p15) abnormality and NUP98-HOXA11 fusion..     ///    \"Here, we report a case of a 3-year-old girl with juvenile myelomonocytic leukemia (JMML) carrying t(7;11)(p15;p15) abnormality with NUP98-HOXA11 fusion. \"    ///    \"To date, t(7;11)(p15;p15) with NUP98-HOXA11 fusion has been reported only in one case of ph-negative chronic myeloid leukemia (CML). \"'), ('3738', 'SYT_SSX', '', 'SYT', 'SSX', '10889911', '103', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' To investigate the distribution of tumour cells expressing the SYT-SSX fusion gene in biphasic synovial sarcoma, modified reverse transcription polymerase chain reaction (RT-PCR) analysis was performed using microdissected specimens from haematoxylin and eosin stained sections of archival paraffin wax embedded tissues.     ///    \"These results indicate that SYT-SSX fusion transcripts are found in both epithelial and spindle cell areas of biphasic synovial sarcoma, and RT-DOP-PCR-PCR analysis is a useful method for detection of extremely small amounts of mRNA in microdissected samples from archival formalin fixed, paraffin wax embedded tumour tissues.. \"    ///    Detection of SYT-SSX fusion transcripts in both epithelial and spindle cell areas of biphasic synovial sarcoma using laser capture microdissection..     ///    SYT-SSX fusion transcripts were detected in both epithelial and spindle cell areas of all three biphasic synovial sarcomas examined. '), ('3739', 'HLF_E2A', 't(17;19)  / t(17;19) / ', 'HLF', 'E2A', '17183364', '103', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', '', '', 't(17;19) or add(19)(p13) was detected in five patients among 17 patients in whom karyotypic data were available, and the presence of E2A-HLF was confirmed in these five patients.     ///    Hypercalcemia in childhood acute lymphoblastic leukemia: frequent implication of parathyroid hormone-related peptide and E2A-HLF from translocation 17;19.. '), ('3740', 'MTG16_AML1', 't(16;21) / ', 'MTG16', 'AML1', '14703694', '103', '', '', '', '', '', '', '', '', '', 'Similarly, MTG16 is disrupted to become part of AML1/MTG16 in t(16;21). '), ('3741', 'MLL_AF4', 't(4;11)  / ', 'MLL', 'AF4', '23352661', '103', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'RUNX1 is a key target in t(4;11) leukemias that contributes to gene activation through an AF4-MLL complex interaction..     ///    \"Here, we highlight a unique molecular mechanism whereby the RUNX1 gene is directly activated by MLL-AF4 and the RUNX1 protein interacts with the product of the reciprocal AF4-MLL translocation. \"'), ('3742', 'BCR_ABL1', '', 'BCR', 'ABL1', '21457188', '103', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Nest reverse transcription polymerase chain reaction (RT-PCR) and real-time quantitative PCR of BCR/ABL1 fusion gene remained positive were performed to determine the purging effects of ZnPcH?-PDT on the mixture of CML cell line K562 cells and normal bone marrow mononuclear cells (MNC) and on the CML cells from the bone marrow of patients with CML who had achieved complete hematology remission but whose BCR/ABL1 fusion genes remained positive.     ///    PDT could eliminate K562 cells from K562-normal MNC mixture and the residual BCR/ABL1 positive CML cells from the bone marrow of patients with CML. '), ('3743', 'ETO_AML1', '', 'ETO', 'AML1', '11877058', '103', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', '17), and RT-PCR assay revealed AML1/ETO and PML-RARalpha fusion gene transcripts. '), ('3744', 'STAT6_NAB2', '', 'STAT6', 'NAB2', '26746203', '103', 'solitary fibrous tumor\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'By reverse transcription-polymerase chain reaction (RT-PCR), an NAB2-STAT6 fusion gene, NAB2 exon6-STAT6 exon17, was detected, establishing a definite diagnosis of SFT/HPC.     ///    \'Papillary\' solitary fibrous tumor/hemangiopericytoma with nuclear STAT6 expression and NAB2-STAT6 fusion.. '), ('3745', 'BCR_ABL1', '', 'BCR', 'ABL1', '25880391', '103', '', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The evolution of mutations in the BCR-ABL1 fusion gene transcript renders CML patients resistant to tyrosine kinase inhibitor (TKI) based therapy.     ///    \"To detect mutations in the BCR-ABL1 transcript we developed an assay based on the Pacific Biosciences (PacBio) sequencing technology, which allows for single-molecule long-read sequencing of BCR-ABL1 fusion transcript molecules. \"    ///    \"cDNA was generated from total RNA and a 1,6?kb fragment encompassing the BCR-ABL1 transcript was amplified using long range PCR. \"    ///    \"Moreover, several transcript isoforms of the BCR-ABL1 transcript were identified in two of the CML patients. \"    ///    Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing..     ///    In summary the PacBio sequencing assay can be applied to detect BCR-ABL1 resistance mutations in both diagnostic and follow-up CML patient samples using a simple protocol applicable to routine diagnosis.     ///    Thus screening for BCR-ABL1 mutations is recommended particularly in patients experiencing poor response to treatment.     ///    \"Notably, the assay was determined to be sufficiently sensitive even in patients harboring a low abundance of BCR-ABL1 levels. \"    ///    Herein we describe a novel approach for the detection and surveillance of BCR-ABL1 mutations in CML patients.     ///    \"Over 10,000 full-length BCR-ABL1 sequences were obtained for all samples studied. \"'), ('3746', 'IGH_BCL10', 't(11;18)(q21;q21) / t(1;14)(p22;q32) / t(14;18)(q32;q21) / ', 'IGH', 'BCL10', '20520640', '103', 'MALT lymphoma;lymphoma\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', ' Mucosa-associated lymphoid tissue (MALT) lymphoma is characterized by t(11;18)(q21;q21)/API2-MALT1, t(1;14)(p22;q32)/BCL10-IGH and t(14;18)(q32;q21)/IGH-MALT1, which commonly activate the nuclear factor (NF)-kappaB pathway. '), ('3747', 'MCL1_BCL2', 't(11;14) / t(11;14)  / ', 'MCL1', 'BCL2', '21835956', '103', 'multiple myeloma;multiple myeloma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'A screen of a public expression database of myeloma patients indicates that the BCL2/MCL1 ratio of t(11;14) and hyperdiploid patients was significantly higher than in all other groups (P < .001).     ///    We demonstrated that ABT-737-sensitive and ABT-737-resistant cell lines could be differentiated by the BCL2/MCL1 expression ratio. '), ('3748', 'MALT1_IGH', 't(11;18)(q21;q21) / t(1;14)(p22;q32) / t(14;18)(q32;q21) / ', 'MALT1', 'IGH', '20520640', '103', 'MALT lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', ' Mucosa-associated lymphoid tissue (MALT) lymphoma is characterized by t(11;18)(q21;q21)/API2-MALT1, t(1;14)(p22;q32)/BCL10-IGH and t(14;18)(q32;q21)/IGH-MALT1, which commonly activate the nuclear factor (NF)-kappaB pathway. '), ('3749', 'RARA_NPM', 't(15;17)(q22;q21) / t(11;17)(q23;q21) / t(5;17)(q35;q21) / t(11;17)(q13;q21) / ', 'RARA', 'NPM', '12357344', '103', '', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'These include the t(11;17)(q23;q21) that produces the PLZF-RAR fusion, t(5;17)(q35;q21) that forms NPM-RAR, t(11;17)(q13;q21) that generates NUMA-RAR, and der(17) that creates STAT5b-RAR. '), ('3750', 'P26_BCL2', 't(14;18)  / t(14;18) / ', 'P26', 'BCL2', '1742726', '103', 'neuroectodermal tumor', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'these levels of p26-BCL2 were comparable to lymphoma cell lines that contain a t(14;18).     ///    \"To explore the possible involvement of bcl2 in neural tumors, we surveyed a variety of tumor cell lines for the presence of the p26-BCL2 protein by immunoprecipitation and immunoblotting methods. \"'), ('3751', 'FGFR1_CEP110', 't(8;9)(p12;q33) / p12;q33 / t(8;9)(p11;q33) / ', 'FGFR1', 'CEP110', '18096225', '103', 'myeloproliferative disorder;leukemia\r\r', '', 'Kinase', '', '', '', '', '', '', 'Common features of myeloproliferative disorders with t(8;9)(p12;q33) and CEP110-FGFR1 fusion: report of a new case and review of the literature.. '), ('3752', 'MALT1_API2', 't(1;14)(p22;q32) / t(14;18)(q32;21) / t(11;18)(q21;q21) / ', 'MALT1', 'API2', '21261681', '103', 'MALT lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'To date, it has been shown that at least the oncogenic products of t(1;14)(p22;q32)/BCL10-IGH, t(14;18)(q32;21)/IGH-MALT1 and t(11;18)(q21;q21)/API2-MALT1 activate the nuclear factor (NF)-?B activation pathway. '), ('3753', 'TCF3_PBX1', 't(9;22) / t(1;19) / t(9;22)  / t(1;19)  / ', 'TCF3', 'PBX1', '21157143', '103', 'lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'We describe the first case of ider(9)(q10)t(9;22) in combination with TCF3-PBX1 negative t(1;19).     ///    \"however, a few cases have identical translocations but no TCF3-PBX1 fusion, as was observed in our patient. \"'), ('3754', 'MALT1_API2', 't(11;18)(q21;q21) / t(1;14)(p22;q32) / t(14;18)(q32;q21) / ', 'MALT1', 'API2', '20520640', '103', 'MALT lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', ' Mucosa-associated lymphoid tissue (MALT) lymphoma is characterized by t(11;18)(q21;q21)/API2-MALT1, t(1;14)(p22;q32)/BCL10-IGH and t(14;18)(q32;q21)/IGH-MALT1, which commonly activate the nuclear factor (NF)-kappaB pathway.     ///    \"Finally, expression of TLR6, in the presence of TLR2, enhanced both API2-MALT1 and BCL10-mediated NF-kappaB activation in vitro. \"'), ('3755', 'SYT_SSX2', '', 'SYT', 'SSX2', '20930682', '103', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'A SYT-SSX2 fusion gene transcript was detected as a result of RT-PCR analysis. '), ('3756', 'P16_P15', 't(1;19)(q23;p13) / t(17;19)(q21-22;p13) / t(1;19)  / t(1;19) / t(17;19) / ', 'P16', 'P15', '9737691', '103', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'In contrast, one of the two t(17;19)+ ALLs that lacked p15/p16 homozygous deletions showed probable hemizygous p15 hypermethylation.     ///    \"Previously, a negative association was found between the t(1;19) and homozygous p16/p15 deletions. \"    ///    \"However, little is known about the potential association between p16/p15 gene alterations and specific genetic abnormalities implicated in leukemogenesis. \"'), ('3757', 'SERPINE1_FOSB', '', 'SERPINE1', 'FOSB', '25749627', '103', 'sarcoma;epithelioid hemangioendothelioma;epithelioid hemangioendothelioma\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', 'Since a recent report directly proved that two cases of PHE/ES-HE have SERPINE1-FOSB fusion gene by reverse transcription-polymerase chain reaction (RT-PCR), we examined whether the fusion gene is present or not in the present case by RT-PCR using fresh frozen surgical material.     ///    Sequencing of the PCR product revealed that this case has SERPINE1-FOSB fusion.     ///    Penile pseudomyogenic hemangioendothelioma/epithelioid sarcoma-like hemangioendothelioma with a novel pattern of SERPINE1-FOSB fusion detected by RT-PCR--report of a case..     ///    \"Thus, this is the third case of PHE/ES-HE with SERPINE1-FOSB fusion proved by RT-PCR. \"'), ('3758', 'MLL_AF4', 't(4;11)(q21;q23) / t(11;14)(q13;32) / ', 'MLL', 'AF4', '24817983', '103', 'lymphoblastic leukemia;leukemia;B cell lymphoma;mantle cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Therapy-related B lymphoblastic leukemia with t(4;11)(q21;q23)/AF4-MLL in a patient with mantle cell lymphoma after recent aggressive chemotherapy: a unique case report.. '), ('3759', 'P13_P11', 'del (6)(q21-q23) / del (12)(p11-p13) / ', 'P13', 'P11', '2910365', '103', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Structural abnormalities involving 9p22-p23 or 14q32, del (6)(q21-q23), del (12)(p11-p13), and the Philadelphia chromosome were found in B-lineage as well as T-lineage ALL cases. '), ('3760', 'RUNX1_ETO', 't(8;21) / t(8;21)  / ', 'RUNX1', 'ETO', '23772668', '103', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'RUNX1-ETO induces a type I interferon response which negatively effects t(8;21)-induced increased self-renewal and leukemia development..     ///    We report here that interferons (IFNs) and IFN-stimulated genes are a group of genes consistently up-regulated by RUNX1-ETO in both human and murine models.     ///    Addition of exogenous IFN in vitro significantly reduces the increase in self-renewal potential induced by both RUNX1-ETO and its leukemogenic splicing isoform RUNX1-ETO9a.     ///    \"This translocation causes expression of the RUNX1-ETO (AML1-ETO) fusion protein, which cooperates with additional mutations in leukemia development. \"'), ('3761', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '16778832', '103', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Together, EriB might be a potential treatment for t(8;21) leukemia by targeting AML1-ETO oncoprotein and activating apoptosis pathways..     ///    \"Without affecting normal hematopoietic progenitor cells proliferation, EriB was effective on primary t(8;21) leukemia blasts and caused AML1-ETO degradation. \"    ///    Eriocalyxin B induces apoptosis of t(8;21) leukemia cells through NF-kappaB and MAPK signaling pathways and triggers degradation of AML1-ETO oncoprotein in a caspase-3-dependent manner..     ///    AML1-ETO oncoprotein was degraded in parallel to caspase-3 activation. '), ('3762', 'RUNX1_ETO', 't(8;21)  / t(8;21) / ', 'RUNX1', 'ETO', '23865046', '103', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Thus, the selective interference with NHR2-mediated oligomerization by peptides represents a challenging but promising strategy for the inhibition of the leukemogenic potential of RUNX1/ETO in t(8;21)-positive leukemia.     ///     The leukemia-associated fusion protein RUNX1/ETO is generated by the chromosomal translocation t(8;21) which appears in about 12% of all de novo acute myeloid leukemias (AMLs).     ///    Interference with RUNX1/ETO leukemogenic function by cell-penetrating peptides targeting the NHR2 oligomerization domain..     ///    \"In previous studies, we have shown that the intracellular expression of peptides containing the NHR2 domain inhibits RUNX1/ETO oligomerization, thereby preventing cell proliferation and inducing differentiation of RUNX1/ETO transformed cells. \"    ///    \"Here, we show that introduction of a recombinant TAT-NHR2 fusion polypeptide into the RUNX1/ETO growth-dependent myeloid cell line Kasumi-1 results in decreased cell proliferation and increased numbers of apoptotic cells. \"    ///    Essential for the oncogenic potential of RUNX1/ETO is the oligomerization of the chimeric fusion protein through the nervy homology region 2 (NHR2) within ETO. '), ('3763', 'EWS_ETV1', 't(7;22) (p22;q12) / t(11;22) (q24;q12) / t(7;22)  / ', 'EWS', 'ETV1', '22432475', '103', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'We identified three new cases of t(7;22) (p22;q12) (EWS-ETV1) ES and a literature search revealed an additional six cases. '), ('3764', 'SUZ12_JAZF1', '', 'SUZ12', 'JAZF1', '27142911', '103', 'adenosarcoma', 'PCR;RT-PCR', '', '', '', '', '', 'KB', '', 'Reverse transcription-polymerase chain reaction (RT-PCR) was applied for detection of expression of JAZF1-SUZ12 and YWHAE-FAM22 fusion genes in 47 cases of ESS and 12 cases of other spindle cell neoplasia in uterus (including 2 cases of undifferentiated sarcoma, 3 cases of leiomyosarcoma, 3 cases of leiomyoma, 4 cases of adenosarcoma and 2 cases of uterine tumor resembling ovarian sex cord tumor).     ///    [Endometrial stromal sarcoma: morphologic features and detection of JAZF1-SUZ12 and YWHAE FAM22 fusion genes]..     ///    \" To study the morphologic features, immunophenotype and significance of expression of JAZF1-SUZ12 and YWHAE-FAM22 fusion genes in endometrial stromal sarcoma (ESS). \"    ///    The 14 control cases were all negative for JAZF1-SUZ12 and YWHAE-FAM22 fusion genes.     ///    The positive rate of JAZF1-SUZ12 fusion gene was 30.8% (12/39) in low-grade ESS. '), ('3765', 'RARA_PL', 't(15;17)  / ', 'RARA', 'PL', '23049403', '103', 'acute myeloid leukemia', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'In the majority of patients t(15;17) is detected, which generates the promyelocytic leukemia gene/retinoic acid receptor alpha rearrangement. '), ('3766', 'SYT_SSX', '', 'SYT', 'SSX', '10685632', '103', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Furthermore, mRNA analysis of HGF, c-MET, and SYT-SSX fusion gene was performed by reverse transcriptase-polymerase chain reaction (RT-PCR) in 22 concordant frozen materials.     ///    SYT-SSX fusion transcripts were detected in all 22 cases. '), ('3767', 'ETO_AML1', 't(8;21)  / t(8;21)(q22;q22) / t(8;21) / ', 'ETO', 'AML1', '22461642', '103', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Our previous studies demonstrated that oridonin selectively induces apoptosis of t(8;21) leukemia cells and causes cleavage of AML1-ETO oncoprotein resulting from t(8;21), but the underlying mechanisms remain unclear.     ///    Targeting of AML1-ETO in t(8;21) leukemia by oridonin generates a tumor suppressor-like protein..     ///    \"?AML1-ETO interacted with AML1-ETO and interfered with the trans-regulatory functions of remaining AML1-ETO oncoprotein, thus acting as a tumor suppressor that mediates the anti-leukemia effect of oridonin. \"    ///    \"Moreover, oridonin bound AML1-ETO, directing the enzymatic cleavage at aspartic acid 188 via caspase-3 to generate a truncated AML1-ETO (?AML1-ETO) and preventing the protein from further proteolysis. \"'), ('3768', 'NUP98_HOXA9', 't(7;11)(p15;p15) / ', 'NUP98', 'HOXA9', '10565304', '103', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'In this report, we describe the unique occurrence of t(7;11)(p15;p15) and NUP98/HOXA9 fusion in a patient with chronic myelomonocytic leukemia, and suggest that the genetic lesion may involve multipotential myeloid stem cells..     ///    Chronic myelomonocytic leukemia with t(7;11)(p15;p15) and NUP98/HOXA9 fusion.. '), ('3769', 'RARA_PML', 't(15;17) / ', 'RARA', 'PML', '25197424', '103', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Tetraploidy acute promyelocytic leuemia with double t(15;17)/PML-RARA, a case report with review of literature.. '), ('3770', 'PTEN_PI3K', 't(8;21)  / t(8;21) / ', 'PTEN', 'PI3K', '23223432', '103', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', 'Tumor_suppressor', '', '', '', '', 'Epigenetic silencing of microRNA-193a contributes to leukemogenesis in t(8;21) acute myeloid leukemia by activating the PTEN/PI3K signal pathway..     ///    \"Our results indicated a feedback circuitry involving miR-193a and AML1/ETO/DNMTs/HDACs, cooperating with the PTEN/PI3K signaling pathway and contributing to leukemogenesis in vitro and in vivo, which can be successfully targeted by pharmacologic disruption of the AML1/ETO/DNMTs/HDACs complex or enhancement of miR-193a in t(8;21)-leukemias.. \"'), ('3771', 'RET_PTC1', 't(10;17)  / inv(10) / t(10;17) / ', 'RET', 'PTC1', '7519046', '103', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'We have previously shown that an inversion of chromosome 10, inv(10)(q11.2q21), is responsible for the generation of the RET/PTC1.     ///    \"The tk domain of proto-RET can be fused either with the D10S170 gene generating the RET/PTC1 transforming sequence or with sequences belonging to the gene encoding the regulatory subunit RIA of c-AMP-dependent protein kinase A, thus forming the RET/PTC2 oncogene. \"'), ('3772', 'P14_P11', 't(3;20)  / del(3) / ', 'P14', 'P11', '7702091', '103', '', '', '', '', '', '', '', '', '', 'His karyotype is described as 46,XY,t(3;20) (p14.2;p12.2),del(3)(p11-p14.1).. '), ('3773', 'PCM1_JAK2', 't(8;9)(p21-23;p23-24) / ', 'PCM1', 'JAK2', '21091042', '103', 'myeloproliferative disorder', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'We discuss possible mechanisms of deregulation and the significance of pericentriolar material 1 (PCM)1-JAK2 fusion/t(8;9)(p21-23;p23-24) in hematolymphoid neoplasms.     ///    The reader will gain important insights considering PCM1-JAK2 fusion in hematologic malignancies. '), ('3774', 'TEL_AML1', 't(12;21) / t(4;11) / t(1;19)  / t(9;22) / ', 'TEL', 'AML1', '12473597', '103', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'We, therefore, extended the study to accurately and reproducibly determine TEL-AML1 mRNA levels in 47 additional patients with t(12;21).     ///    The observed variation in TEL-AML1 transcript levels is of interest because it could reflect biological and/or clinical heterogeneity in the behavior of these leukemias..     ///    \"During the course of these studies, we found marked variations in the levels of the TEL-AML1 transcripts in individual patients. \"    ///    \"The results indicated that the level of expression of TEL-AML1 varied among individual patients, and it was independent of the WBC count. \"    ///    \"We validated this method with 92 primary ALLs and identified 4 E2A-PBX1, 4 mBCR-ABL and 10 TEL-AML1. \"'), ('3775', 'RARA_NUMA', 't(15;17)(q22;q21) / t(11;17)(q23;q21) / t(5;17)(q35;q21) / t(11;17)(q13;q21) / ', 'RARA', 'NUMA', '12357344', '103', '', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'These include the t(11;17)(q23;q21) that produces the PLZF-RAR fusion, t(5;17)(q35;q21) that forms NPM-RAR, t(11;17)(q13;q21) that generates NUMA-RAR, and der(17) that creates STAT5b-RAR. '), ('3776', 'ETO_AML1', 't(8;21)  / t(8;21) / ', 'ETO', 'AML1', '21245488', '103', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'These findings establish AES as a novel AML1/ETO-induced target gene that plays an important role in the self-renewal phenotype of t(8;21)-positive AML..     ///    \" The most frequent translocation t(8;21) in acute myeloid leukemia (AML) generates the chimeric AML1/ETO protein, which blocks differentiation and induces self-renewal in hematopoietic progenitor cells. \"    ///    \"Similarly, self-renewal induced by AML1/ETO in primary murine progenitors was inhibited when AES was decreased or absent. \"    ///    AML1/ETO induces self-renewal in hematopoietic progenitor cells via the Groucho-related amino-terminal AES protein..     ///    \"Using expression microarray analysis, we identified the Groucho-related amino-terminal enhancer of split (AES) as a consistently up-regulated AML1/ETO target. \"    ///    The underlying mechanisms mediating AML1/ETO-induced self-renewal are largely unknown.     ///    \"Elevated levels of AES mRNA and protein were confirmed in AML1/ETO-expressing leukemia cells, as well as in other AML specimens. \"    ///    \"On a functional level, knockdown of AES by RNAi in AML1/ETO-expressing cell lines inhibited colony formation. \"'), ('3777', 'BCR_ABL1', 't(9;22)(q34;q11) / t(9;22) / ', 'BCR', 'ABL1', '24491668', '103', 'chronic myeloid leukemia;myeloid leukemia;leukemia;hematologic malignancy\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'At the end of the 20th?century, the contribution of molecular biology techniques was crucial by the discovery of the BCR-ABL1 hybrid oncogene derived from the t(9;22), responsible for the translation of an aberrant protein tyrosine kinase.     ///    This BCR-ABL1 kinase deregulates signaling pathways that control normal cell cycle and survival in primitive hematopoietic cells and is thus responsible for malignant cell accumulation observed in CML. '), ('3778', 'HLF_E2A', 't(1;19)(q23;p13) / t(17;19)(q21-22;p13) / t(1;19)  / t(1;19) / t(17;19) / ', 'HLF', 'E2A', '9737691', '103', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', '', '', 'We conclude that homozygous p16 and/or p15 deletions and p15 hypermethylation rarely accompany E2A-PBX1 fusion, but occur in concert with E2A-HLF fusion in a subset of t(17;19)+ ALLs.     ///    \"The t(1;19)(q23;p13) and t(17;19)(q21-22;p13) are non-random translocations observed in childhood ALL that create distinct E2A fusion proteins: E2A-PBX1 and E2A-HLF, respectively. \"'), ('3779', 'SSB_SSA', 't(14;18)  / t(14;18) / ', 'SSB', 'SSA', '10204807', '103', 'non Hodgkin lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'By polymerase chain reaction analysis of t(14;18), a key lymphomagenic event in peripheral blood lymphocytes, we found a lower frequency in a subset of 12 SS patients positive for SS-A/SS-B autoantibodies than in 21 healthy subjects and 20 SS patients lacking these SS marker autoantibodies (P < 0.001). '), ('3780', 'RUNX1_ETV6', 't(9;22) / ', 'RUNX1', 'ETV6', '20409752', '103', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Multivariate analysis incorporating age, white-cell count, and treatment parameters showed that six cytogenetic abnormalities (ETV6-RUNX1, high hyperdiploidy, iAMP21, t(9;22), loss of 13q, and abnormal 17p) retained their significance for effect on relapse risk.     ///    \"Two chromosomal abnormalities were associated with a significantly better outcome (ETV6-RUNX1, hazard ratio [HR] 0.51, 95% CI 0.38-0.70 and high hyperdiploidy, 0.60, 0.47-0.78), whereas five abnormalities were associated with an increased risk of relapse (intrachromosomal amplification of chromosome 21 [iAMP21], 6.04, 3.90-9.35. \"'), ('3781', 'SYT_SSX1', '', 'SYT', 'SSX1', '18296877', '103', 'neuroectodermal tumor', '', '', '', '', '', '', '', '', 'Synovial sarcoma was finally diagnosed by the identification of SYT-SSX1 fusion gene transcripts using reverse transcriptase-polymerase chain reaction with a frozen tumor tissue sample.. '), ('3782', 'TRX1_TRX1', 't(8;21)  / t(8;21)(q22;q22) / t(8;21) / ', 'TRX1', 'TRX1', '22461642', '103', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'We show that oridonin interacted with glutathione and thioredoxin/thioredoxin reductase to increase intracellular reactive oxygen species, which in turn activated caspase-3 in t(8;21) cells. '), ('3783', 'ETO_AML1', 't(8;21)  / t(8;21) / ', 'ETO', 'AML1', '23223432', '103', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The biologic and clinical significance of microRNA dysregulation associated with AML1/ETO expressed in t(8;21) AML is unknown.     ///    Our study identifies miR-193a and PTEN as targets for AML1/ETO and provides evidence that links the epigenetic silencing of tumor suppressor genes miR-193a and PTEN to differentiation block of myeloid precursors.     ///    \"Here, we show that AML1/ETO triggers the heterochromatic silencing of microRNA-193a (miR-193a) by binding at AML1-binding sites and recruiting chromatin-remodeling enzymes. \"    ///    \"Suppression of miR-193a expands the oncogenic activity of the fusion protein AML-ETO, because miR-193a represses the expression of multiple target genes, such as AML1/ETO, DNMT3a, HDAC3, KIT, CCND1, and MDM2 directly, and increases PTEN indirectly. \"'), ('3784', 'NUP98_HOXD', '', 'NUP98', 'HOXD', '15748441', '103', 'leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' To investigate whether there are NUP98-HOXA, NUP98-HOXB, NUP98-HOXC, NUP98-HOXD fusion genes in leukemia patients in Xinjiang, cellular total RNA was extracted from the bone marrow mononuclear cells, the formaldehyde-agarose gel electrophoresis was used to judge whether RNA was intact, the 17 RT-PCR primers were designed to amplify the predicted fusion junctions and 412 bp GAPDH was used as an internal control, NUP98-HOXA fusion genes were amplified by nested-PCR following reverse transcription. '), ('3785', 'TEL_AML1', '', 'TEL', 'AML1', '21869488', '103', '', 'PCR', '', '', '', '', '', '', '', 'RT-PCR and real-time PCR analysis of E2A-PBX1, TEL-AML1, mBCR-ABL and MLL-AF4 fusion gene transcripts in de novo B-lineage acute lymphoblastic leukaemia patients in south India.. '), ('3786', 'ETO_AML1', '', 'ETO', 'AML1', '21344764', '103', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'To perform quantitative RT-PCR and RQ-PCR reactions 4 fusion gene transcripts (AML1-ETO, CBFb-MYH11, PML-RARA /subtype bcrl and bcr3/) were used according to the protocol established by Europe Against Cancer Program.     ///    AML1-ETO fusion gene transcript was found in 14 patients (19%). '), ('3787', 'HOXA9_DACH1', 't(9;11)  / ', 'HOXA9', 'DACH1', '22902925', '103', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Moreover, we here identified an endogenous HOXA9-DACH1 complex mediated by the carboxyl terminus of DACH1 in t(9;11) leukemia cells. '), ('3788', 'RARA_PLZF', 't(11;17) / ', 'RARA', 'PLZF', '12529666', '103', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'Finally, low c-fms expression was observed in an APL relapsing patient resistant to ATRA, as well as in an APL case with t(11;17), PLZF/RAR alpha+. '), ('3789', 'AF9_AF4', 't(4;11)  / ', 'AF9', 'AF4', '15269783', '103', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The synthetic peptide PFWT disrupts AF4-AF9 protein complexes and induces apoptosis in t(4;11) leukemia cells..     ///    \"Based on mapping studies of the AF9-binding domain of AF4, we have developed a peptide, designated PFWT, which disrupts the AF4-AF9 interaction in vitro and in vivo. \"    ///    Our findings indicate that the AF4-AF9 protein complex is a promising new target for leukemia therapy and that the PFWT peptide may serve as a lead compound for drug development.. '), ('3790', 'STAT5B_RARA', 't(15;17)(q22;q21) / t(11;17)(q23;q21) / t(5;17)(q35;q21) / t(11;17)(q13;q21) / ', 'STAT5B', 'RARA', '12357344', '103', '', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'These include the t(11;17)(q23;q21) that produces the PLZF-RAR fusion, t(5;17)(q35;q21) that forms NPM-RAR, t(11;17)(q13;q21) that generates NUMA-RAR, and der(17) that creates STAT5b-RAR. '), ('3791', 'ZMYM2_FGFR1', 't(8;13) / p11.2;q12.1 / ', 'ZMYM2', 'FGFR1', '23751892', '103', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', '', '', '', '', 'KB', '', 'Here we report on a case with a t(8;13)(p11.2;q12.1) ZMYM2-FGFR1 fusion, with massive tumor lysis upon tyrosine kinase inhibition with imatinib.     ///    A ZMYM2-FGFR1 8p11 myeloproliferative neoplasm with a novel nonsense RUNX1 mutation and tumor lysis upon imatinib treatment.. '), ('3792', 'RARA_PLZF', 't(15;17)(q22;q21) / t(11;17)(q23;q21) / t(5;17)(q35;q21) / t(11;17)(q13;q21) / ', 'RARA', 'PLZF', '12357344', '103', '', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'These include the t(11;17)(q23;q21) that produces the PLZF-RAR fusion, t(5;17)(q35;q21) that forms NPM-RAR, t(11;17)(q13;q21) that generates NUMA-RAR, and der(17) that creates STAT5b-RAR. '), ('3793', 'ETO_AML1', 't(8;21) / t(8;21)  / ', 'ETO', 'AML1', '15621809', '103', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Since establishment in 1991 the Kasumi-1 cell line has provided the tool to study the peculiar molecular, morphologic, immunophenotypic findings of AML with t(8;21) and the functional consequences of the AML1-ETO fusion oncogene on myeloid differentiation.     ///    \"In agreement with the \"\"two hits\"\" model of leukemogenesis, based on the cooperation between 1 class of mutations that impair hematopoietic differentiation and a second class of mutations that confer a proliferative and/or survival advantage to hematopoietic progenitors an activating mutation in the tyrosine kinase domain of the c-kit gene was identified in the AML1/ETO expressing Kasumi-1 cell line. \"'), ('3794', 'PAX7_FKHR', '', 'PAX7', 'FKHR', '17285543', '102', 'rhabdomyosarcoma', 'PCR;RT-PCR', '', '', '', '', '', '', '', '[Expression of fusion gene PAX3/PAX7-FKHR and chromosomal aberration in rhabdomyosarcoma]..     ///     To detect the PAX3/PAX7-FKHR fusion transcripts to identify genetic alteration in embryonal rhabdomyosarcoma (ERMS) and alveolar rhabdomyosarcoma (ARMS) tissues.     ///    \"One-step reverse transcription- polymerase chain reaction (RT-PCR) were used to detect the expression of the PAX3/PAX7-FKHR fusion transcrips in 16 cases of rhabdomyosarcoma (7 cases of ARMS, 9 cases of ERMS) and 16 specimens were compared to the surrounding normal tissue. \"'), ('3795', 'MSN_ALK', 't(2;5)(p23;q35) / t(2;17)(p23;q25) / t(2;11;2)(p23;p15;q31) / ', 'MSN', 'ALK', '12112524', '102', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'While most of the ALK-positive ALCL (ALKomas) are characterized by the presence of the NPM-ALK fusion protein, the product of the t(2;5)(p23;q35), 10-20% of ALKomas contain variant ALK fusions, including ATIC-ALK, TFG-ALK, CLTC-ALK (previously designated CLTCL-ALK), TMP3-ALK, and MSN-ALK. '), ('3796', 'TFG_ALK', 't(2;5)(p23;q35) / t(2;17)(p23;q25) / t(2;11;2)(p23;p15;q31) / ', 'TFG', 'ALK', '12112524', '102', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'While most of the ALK-positive ALCL (ALKomas) are characterized by the presence of the NPM-ALK fusion protein, the product of the t(2;5)(p23;q35), 10-20% of ALKomas contain variant ALK fusions, including ATIC-ALK, TFG-ALK, CLTC-ALK (previously designated CLTCL-ALK), TMP3-ALK, and MSN-ALK. '), ('3797', 'EML4_ALK', '', 'EML4', 'ALK', '23714228', '102', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The EML4-ALK fusion gene occurs generally in NSCLC without mutations in epidermal growth factor receptor (EGFR) and KRAS.     ///     The EML4-ALK (echinoderm microtubule-associated protein-like 4 gene and the anaplastic lymphoma kinase gene) fusion oncogene represents a novel molecular target in a small subset of non-small-cell lung cancers (NSCLCs). '), ('3798', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '10861016', '102', 'leukemia\r\r', '', '', '', '', '', '', '', '', ' Leukemia-specific AML1/ETO transcripts are detectable in most patients with t(8;21) acute myelogenous leukemia (AML) in long-term remission.     ///    \"These data strongly suggest that the acquisition of the t(8;21) occurs at the level of stem cells capable of differentiating into B cells as well as all myeloid lineages, and that a fraction of the AML1/ETO-expressing stem cells undergo additional oncogenic event(s) that ultimately leads to transformation into AML.. \"    ///    AML1/ETO-expressing nonleukemic stem cells in acute myelogenous leukemia with 8;21 chromosomal translocation..     ///    \"AML1/ETO transcripts also were demonstrated in a fraction of colony-forming cells of erythroid, granulocyte-macrophage, and/or megakaryocyte lineages in both leukemic and remission marrow. \"    ///    \"Here we demonstrate that AML1/ETO transcripts are present in a fraction of stem cells, monocytes, and B cells in remission marrow, and in a fraction of B cells in leukemic marrow, but not in T cells. \"    ///    \"To understand the inconsistency between the clinical cure and the presence of \"\"residual disease\"\" at a molecular level, we separated and identified the cells expressing AML1/ETO by phenotype and function. \"'), ('3799', 'TEL_AML1', '', 'TEL', 'AML1', '19287094', '102', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The TEL-AML1 leukemia fusion gene dysregulates the TGF-beta pathway in early B lineage progenitor cells..     ///     Chromosome translocation to generate the TEL-AML1 (also known as ETV6-RUNX1) chimeric fusion gene is a frequent and early or initiating event in childhood acute lymphoblastic leukemia (ALL).     ///    \"Moreover, expression of TEL-AML1 in human cord blood progenitor cells led to the expansion of a candidate preleukemic stem cell population that had an early B lineage phenotype (CD34+CD38-CD19+) and a marked growth advantage in the presence of TGF-beta. \"    ///    \"Further analysis indicated that TEL-AML1 binds to a principal TGF-beta signaling target, Smad3, and compromises its ability to activate target promoters. \"    ///    \"Here, we show that a murine B cell progenitor cell line expressing inducible TEL-AML1 proliferates at a slower rate than parent cells but is more resistant to further inhibition of proliferation by TGF-beta. \"    ///    \"In mice expressing a TEL-AML1 transgene, early, pre-pro-B cells were increased in number and also showed reduced sensitivity to TGF-beta-mediated inhibition of proliferation. \"    ///    \"Our starting hypothesis was that the TEL-AML1 protein generates and maintains preleukemic clones and that conversion to overt disease requires secondary genetic changes, possibly in the context of abnormal immune responses. \"'), ('3800', 'FUS_DDIT3', '', 'FUS', 'DDIT3', '23276404', '102', 'liposarcoma;sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Paratesticular myxoid/round cell liposarcoma harboring type 3 DDIT3-FUS fusion gene: report of a very rare case.    ///    \"They preferentially occur in the lower extremity, and most of them have type 1 or type 2 DDIT3-FUS fusion gene. \"    ///    Paratesticular myxoid/round cell liposarcoma harboring type 3 DDIT3-FUS fusion gene: report of a very rare case..     ///    We report here a very rare case of myxoid/round cell liposarcoma of the paratesticular region with type 3 DDIT3-FUS fusion gene.     ///    \"Genetic analysis elucidated that the tumor had a chromosomal translocation, type 3 DDIT3-FUS chimeric gene. \"'), ('3801', 'ETO_AML1', '', 'ETO', 'AML1', '18156164', '102', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Patients carrying the AML1-ETO fusion gene exhibit an accumulation of granulocyte precursors in the bone marrow and the blood.     ///     AML1-ETO is one of the most common chromosomal translocation products associated with acute myelogenous leukemia (AML).     ///    \"AML1-ETO quickly shuts off scl expression, and restoration of scl expression rescues the effects of AML1-ETO on myeloerythroid progenitor cell fate. \"    ///    \"Using this highly tractable model, we show that AML1-ETO redirects myeloerythroid progenitor cells that are developmentally programmed to adopt the erythroid cell fate into the granulocytic cell fate. \"    ///    AML1-ETO reprograms hematopoietic cell fate by downregulating scl expression..     ///    \"Moreover, we identify scl as an early and essential mediator of the effect of AML1-ETO on hematopoietic cell fate. \"    ///    Induced AML1-ETO expression in embryonic zebrafish causes a phenotype that recapitulates some aspects of human AML.     ///    \"In addition, treatment of AML1-ETO transgenic zebrafish embryos with a histone deacetylase inhibitor, Trichostatin A, restores scl and gata1 expression, and ameliorates the accumulation of granulocytic cells caused by AML1-ETO. \"'), ('3802', 'TFE3_PRCC', '', 'TFE3', 'PRCC', '12351585', '102', 'renal cell carcinoma\r\r', '', '', '', '', '', '', 'KB', '', 'A PRCC-TFE3 fusion gene is typically encountered in t(X;1)-positive non-familial papillary RCCs and results in abrogation of the cell cycle mitotic spindle checkpoint in a dominant-negative fashion, thus leading to RCC. '), ('3803', 'TCF3_PBX1', '', 'TCF3', 'PBX1', '19587702', '102', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'PAX5 complete loss seems to be a secondary event and is significantly associated with BCR-ABL1 or TCF3-PBX1 fusion genes and a lower white blood cell count..    ///    PAX5 mutations occur frequently in adult B-cell progenitor acute lymphoblastic leukemia and PAX5 haploinsufficiency is associated with BCR-ABL1 and TCF3-PBX1 fusion genes: a GRAALL study.. '), ('3804', 'EML4_ALK', '', 'EML4', 'ALK', '21168933', '102', 'non small cell lung cancer;lung cancer\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 (NSCLC).     ///    \"EML4-ALK translocations correlate with specific clinical and pathological features, in particular lack of EGFR and K-ras mutations, and may be associated with resistance to EGFR tyrosine-kinase inhibitors (TKIs). \"    ///    EGFR and EML4-ALK gene mutations in NSCLC: a case report of erlotinib-resistant patient with both concomitant mutations.. ');
INSERT INTO `ChimerPub_dump` VALUES ('3805', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '14757533', '102', 'myeloproliferative disorder;leukemia;hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Beginning with the observation that imatinib mesylate (Gleevec) could elicit rapid and complete hematologic remissions in a proportion of patients with HES, a reverse bedside-to-bench translational research effort led to the discovery of FIP1L1-PDGFRA, a novel fusion gene on chromosome 4q12 whose product is an imatinib-sensitive protein tyrosine kinase.     ///    FIP1L1-PDGFRA is the first description of a gain-of-function fusion gene derived from an interstitial chromosomal deletion rather than a reciprocal translocation.     ///    \"In this review, we discuss the role of imatinib in HES/CEL and other malignancies characterized by constitutively activated tyrosine kinases, and examine molecular features of the FIP1L1-PDGFRA fusion.. \"'), ('3806', 'RARA_PML', '', 'RARA', 'PML', '9207466', '102', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', '17) in acute promyelocytic leukemia (APL) produces the reciprocal fusion gene RAR alpha-PML.     ///    RAR alpha1-PML mRNAs and RAR alpha2-PML mRNAs from 5\' PML breaksite cases coded for full-length RAR alpha-PML proteins but RAR alpha2-PML mRNAs from 3\' PML breaksite cases encoded a truncated RAR alpha2 peptide. '), ('3807', 'ATIC_ALK', 't(2;5)(p23;q35) / t(2;17)(p23;q25) / t(2;11;2)(p23;p15;q31) / ', 'ATIC', 'ALK', '12112524', '102', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'While most of the ALK-positive ALCL (ALKomas) are characterized by the presence of the NPM-ALK fusion protein, the product of the t(2;5)(p23;q35), 10-20% of ALKomas contain variant ALK fusions, including ATIC-ALK, TFG-ALK, CLTC-ALK (previously designated CLTCL-ALK), TMP3-ALK, and MSN-ALK. '), ('3808', 'NPM_ALK', 't(2;5)(p23;q35) / t(2;17)(p23;q25) / t(2;11;2)(p23;p15;q31) / ', 'NPM', 'ALK', '12112524', '102', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'While most of the ALK-positive ALCL (ALKomas) are characterized by the presence of the NPM-ALK fusion protein, the product of the t(2;5)(p23;q35), 10-20% of ALKomas contain variant ALK fusions, including ATIC-ALK, TFG-ALK, CLTC-ALK (previously designated CLTCL-ALK), TMP3-ALK, and MSN-ALK. '), ('3809', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '17412887', '102', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'In this review, we survey recent advances made involving secondary mutational events and alternative t(8;21) transcripts in relation to understanding AML1-ETO leukemogenesis..     ///    \"It involves the AML1 (RUNX1) gene on chromosome 21 and the ETO (MTG8, RUNX1T1) gene on chromosome 8 generating the AML1-ETO fusion proteins. \"'), ('3810', 'PDGFB_COL1A1', 't(17;22) / t(17;22)  / ', 'PDGFB', 'COL1A1', '11420709', '102', 'dermatofibrosarcoma protuberans;sarcoma\r\r', '', '', 'Oncogene', '', '', '', 'KB', '', 'Structural and functional analysis of a chimeric protein COL1A1-PDGFB generated by the translocation t(17;22)(q22;q13.1) in Dermatofibrosarcoma protuberans (DP)..     ///    \"In addition, COL1A1-PDGFB transfected cell supernatants significantly stimulated fibroblastic cell growth, through the activation of the PDGFB receptor pathway.\"    ///    \"Strikingly, mutagenesis experiments indicated that uncleaved COL1A1-PDGFB forms are mitogenic and therefore could contribute, as well as mature PDGFB, to the establishment of a transformed phenotype.. \"    ///    \"In addition, COL1A1-PDGFB transfected cell supernatants significantly stimulated fibroblastic cell growth, through the activation of the PDGFB receptor pathway. \"    ///    We demonstrated that the stably transfected clones that expressed the COL1A1-PDGFB chimeric protein became growth factors independent and tumorigenic in nude mice.    ///    \"To study the structure and function of the COL1A1-PDGFB chimeric protein, we used a tumour-derived chimeric COL1A1-PDGFB cDNA to perform stable and transient transfections in the Chinese hamster lung fibroblastic cell line PS200 and the human epithelial cell line HEK293. \"    ///    \"These results strongly suggest that the COL1A1-PDGFB chimeric gene expression associated with DP, induces tumours formation through production of mature PDGFB, in an autocrine or paracrine way. \"'), ('3811', 'EML4_ALK', '', 'EML4', 'ALK', '23731739', '102', 'adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'A case of lung adenocarcinoma harboring exon 19 EGFR deletion and EML4-ALK fusion gene..     ///     We report a man with advanced adenocarcinoma who harboring exon 19 (E746-A750del) epidermal growth factor receptor (EGFR) deletion and echinoderm microtubule-associated protein like 4-anaplastic lymphoma kinase (EML4-ALK) gene translocation in the re-biospy specimen. '), ('3812', 'RARA_PML', 't(15;17) / t(15;17)  / ', 'RARA', 'PML', '7987829', '102', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'A ribozyme which discriminates in vitro between PML/RAR alpha, the t(15;17)-associated fusion RNA of acute promyelocytic leukemia, and PML and RAR alpha, the transcripts from the nonrearranged alleles.. '), ('3813', 'BCR_ABL1', '', 'BCR', 'ABL1', '19587702', '102', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'PAX5 complete loss seems to be a secondary event and is significantly associated with BCR-ABL1 or TCF3-PBX1 fusion genes and a lower white blood cell count..     ///    PAX5 mutations occur frequently in adult B-cell progenitor acute lymphoblastic leukemia and PAX5 haploinsufficiency is associated with BCR-ABL1 and TCF3-PBX1 fusion genes: a GRAALL study.. '), ('3814', 'RUNX1_ETO', 't(8;21)  / ', 'RUNX1', 'ETO', '22343733', '102', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Depletion of RUNX1/ETO in t(8;21) AML cells leads to genome-wide changes in chromatin structure and transcription factor binding..     ///    \"To obtain insights into RUNX1/ETO-dependant alterations of the epigenetic landscape, we measured genome-wide RUNX1- and RUNX1/ETO-bound regions in t(8;21) cells and assessed to what extent the effects of RUNX1/ETO on the epigenome depend on its continued expression in established leukemic cells. \"    ///    Combined global assessments of chromatin accessibility and kinetic gene expression data show that RUNX1/ETO controls the expression of important regulators of hematopoietic differentiation and self-renewal.     ///    \"To this end, we determined dynamic alterations of histone acetylation, RNA Polymerase II binding and RUNX1 occupancy in the presence or absence of RUNX1/ETO using a knockdown approach. \"    ///    \"We show that selective removal of RUNX1/ETO leads to a widespread reversal of epigenetic reprogramming and a genome-wide redistribution of RUNX1 binding, resulting in the inhibition of leukemic proliferation and self-renewal, and the induction of differentiation. \"    ///    This demonstrates that RUNX1/ETO represents a pivotal therapeutic target in AML..     ///    The resultant RUNX1/ETO fusion protein is a leukemia-initiating transcription factor that interferes with RUNX1 function. '), ('3815', 'RUNX1_ETO', 't(8;21)  / t(8;21) / ', 'RUNX1', 'ETO', '22031861', '102', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Mechanistically, we further demonstrated that RUNX1-ETO, the t(8;21) fusion product, specifically bound the SFRP1 promoter and repressed its transcription via a consensus RUNX binding site. '), ('3816', 'SEPT6_MLL', '', 'SEPT6', 'MLL', '19748670', '102', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', 'KB', '', 'In this study, we examined the expression pattern of the other 13 known septin genes in altogether 67 cases of myeloid neoplasia, including three patients with the MLL-SEPT2 fusion gene, four with MLL-SEPT6 fusion, and three patients with the MLL-SEPT9 fusion gene.     ///    p=0.002) in MLL-SEPT6 leukemia.     ///    \"Using hierarchical clustering analysis to compare acute myeloid leukemia genetic subgroups based on their similarity of septin expression changes, we found that MLL-SEPT2 and MLL-SEPT6 neoplasias cluster together apart from the remaining subgroups and that PML-RARA leukemia presents under-expression of most septin family genes.. \"'), ('3817', 'CLTCL_ALK', 't(2;5)(p23;q35) / t(2;17)(p23;q25) / t(2;11;2)(p23;p15;q31) / ', 'CLTCL', 'ALK', '12112524', '102', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'While most of the ALK-positive ALCL (ALKomas) are characterized by the presence of the NPM-ALK fusion protein, the product of the t(2;5)(p23;q35), 10-20% of ALKomas contain variant ALK fusions, including ATIC-ALK, TFG-ALK, CLTC-ALK (previously designated CLTCL-ALK), TMP3-ALK, and MSN-ALK. '), ('3818', 'TEL_AML1', '', 'TEL', 'AML1', '22613552', '102', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Only one out of a thousand B cells carries TEL-AML1 fusion gene.     ///    \"Practically this means that among a hundred children born with TEL-AML1 fusion gene, only one child will later in its life develop ALL. \"    ///    TEL-AML1(+) body cell count is low because TEL-AML1 fusion is generated at cell level of 10(-3) to 10(-4) just during the late fetal lymphopoiesis i.e.     ///    The bottleneck is caused by the very low body TEL-AML1(+) cell count.     ///    It was the level of TEL-AML1(+) cells? frequency.     ///    For childhood TEL-AML1(+) acute lymphoblastic leukemia (ALL) this equates to approximately 100 times.     ///    Childhood leukemia genetic bottleneck phenomenon related to TEL-AML1: the postulation by a mathematical model.. '), ('3819', 'FAS_BCL2', 't(12;21)  / t(12;21) / ', 'FAS', 'BCL2', '11378579', '102', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In the present study, we examined the FAS/BCL-2 expression profiles and chemosensitivity of primary leukemic cells from children with newly diagnosed t(12;21)TEL-AML1 fusion transcript-positive versus t(12;21)TEL-AML1 fusion transcript-negative standard risk ALL. '), ('3820', 'Immunoglobulin _BCL2', 't(14;18)  / ', 'Immunoglobulin ', 'BCL2', '2875799', '102', 'lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'As a result of t(14;18) translocation, hybrid bcl-2/immunoglobulin heavy chain transcripts are produced that consist of the 5\' half of the bcl-2 mRNA fused to a \"decapitated\" immunoglobulin heavy chain mRNA.     ///    Cloning and structural analysis of cDNAs for bcl-2 and a hybrid bcl-2/immunoglobulin transcript resulting from the t(14;18) translocation.. '), ('3821', 'RUNX1_ETO', 't(8;21) / t(8;21)  / ', 'RUNX1', 'ETO', '24130502', '102', 'acute myeloid leukemia;chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'This identifies KLF6 as a novel mediator of t(8;21) target gene regulation, providing a new mechanism for RUNX1-ETO transcriptional control..     ///    \" Fusion protein RUNX1-ETO (AML1-ETO, RUNX1-RUNX1T1) is expressed as the result of the 8q22;21q22 translocation [t(8;21)], which is one of the most common chromosomal abnormalities found in acute myeloid leukemia. \"    ///    \"Furthermore, KLF6 is specifically upregulated by RUNX1-ETO in human leukemia cells. \"    ///    Mechanisms of RUNX1-ETO target gene upregulation remain less well understood.     ///    RUNX1-ETO is thought to promote leukemia development through the aberrant regulation of RUNX1 (AML1) target genes. '), ('3822', 'NUP98_HOXD13', '', 'NUP98', 'HOXD13', '18648006', '102', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', '', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'We used vav regulatory elements to direct expression of a NUP98-HOXD13 (NHD13) fusion gene in hematopoietic tissues. '), ('3823', 'RARA_PML', '', 'RARA', 'PML', '16638186', '102', '', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The results showed that 4 types of fusion genes such as PML/RARA, AML1/ETO, CBFbeta/MYH11, BCR/ABL were detected in 8 (21.6%) patients by multiplex RT-PCR. '), ('3824', 'PAX7_PAX3', '', 'PAX7', 'PAX3', '17285543', '102', 'rhabdomyosarcoma', 'PCR;RT-PCR', '', '', '', '', '', '', '', '[Expression of fusion gene PAX3/PAX7-FKHR and chromosomal aberration in rhabdomyosarcoma]..     ///     To detect the PAX3/PAX7-FKHR fusion transcripts to identify genetic alteration in embryonal rhabdomyosarcoma (ERMS) and alveolar rhabdomyosarcoma (ARMS) tissues.     ///    \"One-step reverse transcription- polymerase chain reaction (RT-PCR) were used to detect the expression of the PAX3/PAX7-FKHR fusion transcrips in 16 cases of rhabdomyosarcoma (7 cases of ARMS, 9 cases of ERMS) and 16 specimens were compared to the surrounding normal tissue. \"'), ('3825', 'SYT_SSX', '', 'SYT', 'SSX', '15140553', '102', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'SYT-SSX fusion genes in synovial sarcoma of the thorax..     ///    We reviewed previous reports of thoracic synovial sarcomas containing an analysis of the SYT-SSX fusion transcript and found that case 2 in the present study was the first description of a biphasic synovial sarcoma of the thorax with an SYT-SSX2 fusion transcript.     ///    Previous studies have shown that SYT-SSX1 is the most common SYT-SSX fusion transcript in biphasic synovial sarcomas of the limbs.     ///    \" Synovial sarcoma (SS) is characterized by a chromosomal translocation resulting in the expression of an SYT-SSX chimeric transcript, usually SYT-SSX1 or SYT-SSX2. \"'), ('3826', 'SEPT9_MLL', '', 'SEPT9', 'MLL', '19748670', '102', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'In this study, we examined the expression pattern of the other 13 known septin genes in altogether 67 cases of myeloid neoplasia, including three patients with the MLL-SEPT2 fusion gene, four with MLL-SEPT6 fusion, and three patients with the MLL-SEPT9 fusion gene.     ///    \"In addition, there was a trend for SEPT9 down-regulation in MLL-SEPT9 leukemias (4.6-fold. \"'), ('3827', 'MALT1_API2', 't(11;18)(q21;q21) / ', 'MALT1', 'API2', '11984515', '102', 'MALT lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Diagnostic biopsy specimens were analyzed for t(11;18)(q21;q21) by reverse-transcription polymerase chain reaction of the API2-MALT1 transcript. '), ('3828', 'EWS_CHN', 't(9;22)(q22;q12) / t(9;17)(q22;q11) / t(9;15)(q22;q21) / ', 'EWS', 'CHN', '15187889', '102', 'chondrosarcoma', '', '', '', '', '', '', '', '', 'In each of these translocations, the CHN gene is involved, resulting in the chimeric fusion genes EWS/CHN, RBP56/CHN, and TCF12/CHN, respectively. '), ('3829', 'ETO_AML1', 't(8;21)(q22;q22) / t(8;21) / ', 'ETO', 'AML1', '15611635', '102', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Genetic and biochemical experiments suggest that AML1/ETO is a dominant inhibitor of the core binding factor (CBF) transcription complex that includes AML1 (RUNX1), the N-terminal fusion partner in the t(8;21).     ///    \" The t(8;21)(q22;q22) translocation, present in 10-15% of acute myeloid leukemia (AML) cases results in the production of the AML1/ETO fusion protein. \"    ///    Expression of AML1/ETO in patients or mouse models is not sufficient to induce AML.     ///    \"We generated and recently characterized a novel strain of transgenic mice in which the AML1/ETO cDNA was inserted into the Ly-6A gene that encodes Sca1, a well-characterized marker of murine hematopoietic stem cells. \"    ///    \"Despite convincing evidence that AML1/ETO is directly involved in the pathogenesis of AML, the underlying mechanism is not well understood. \"    ///    We have confirmed this finding at the mRNA level and suggest that this phenotype is a consequence of dominant inhibition of transgene expression by AML1/ETO.     ///    The dominant negative characteristics of AML1/ETO may be important for AML pathogenesis and may provide a molecular target for therapeutic intervention..     ///    Dominant negative effects of the AML1/ETO fusion oncoprotein.. '), ('3830', 'SYT_SSX', '', 'SYT', 'SSX', '12004001', '102', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'To test independently this iconoclastic claim, a molecular analysis for the detection of the SYT-SSX fusion genes was carried out using archival material of 34 consecutive cases diagnosed as malignant peripheral nerve sheath tumors and treated in our Institute from 1998 to 2000.     ///    Lack of SYT-SSX fusion transcripts in malignant peripheral nerve sheath tumors on RT-PCR analysis of 34 archival cases..     ///    Our results reaffirm the specificity of SYT-SSX for SS and suggest that an opposite claim made in a recent study may have been due to a faulty interpretation of the molecular results caused by a contamination of the samples.. '), ('3831', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '10383127', '102', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'In summary, transcriptional repression mediated by AML1-ETO appears to play a mechanistic role in the t(8;21) AML, and relief of repression using agents such as PB (alone or in combination) may prove to be therapeutically useful..     ///    \"PB was also able to induce partial differentiation of the AML1-ETO cell line, Kasumi-1. \"    ///    \"Here, we used inhibitors of HDAC1 to study the pathophysiology of AML1-ETO. \"    ///    Inhibitors of histone deacetylase relieve ETO-mediated repression and induce differentiation of AML1-ETO leukemia cells..     ///    \" The (8;21) translocation, found in 12% of acute myeloid leukemia (AML), creates the chimeric fusion product, AML1-ETO. \"'), ('3832', 'TEL_AML1', '', 'TEL', 'AML1', '15104290', '102', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The TEL/AML1 fusion genes were cloned into plasmids and sequenced.     ///    We determined the incidence of TEL/AML1 translocation with reverse transcriptase polymerase chain reaction (RT-PCR) and flow-cytometric immunophenotyping of newly diagnosed pediatric acute lymphoblastic leukemia patients in Thailand.     ///    \"Of 35 ALL patients, we found an incidence of 8.6% of TEL/AML1 translocation in ALL patients (12% of B-lineage ALL), which is lower than that reported in caucasians but is similar to that reported in Japanese and Koreans. \"    ///    Cloning and sequencing of ETV6/RUNX1 (TEL/AML1) variant in acute lymphoblastic leukemia..     ///    \"Interestingly, the two TEL/AML1 subclones were CD20 negative, and one subclone expressed a myelocytic marker (CD33+). \"    ///    Two TEL/AML1 subclones from bone marrow of ALL patients were isolated and sequenced. '), ('3833', 'MALT1_API2', 't(11;18)(q21;q21) / ', 'MALT1', 'API2', '25503310', '102', 'plasma cell myeloma', 'PCR;ISH', '', '', '', '', '', '', '', 'The presence of the translocation t(11;18)(q21;q21) or the API2/MALT1 rearrangement could give further information about the clinical course and the prognosis of a gastric MALT lymphoma. '), ('3834', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '19707305', '102', 'dermatofibrosarcoma protuberans;sarcoma\r\r', '', '', 'Oncogene', '', '', '', 'KB', '', '22) containing the COL1A1 -PDGFB fusion gene is present. '), ('3835', 'FLI_EWS', 't(11;22)(q24;q12) / ', 'FLI', 'EWS', '9741544', '102', 'neuroectodermal tumor;ewing sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'More than 85% of Ewing\'s sarcoma and peripheral neuroectodermal tumor present a specific t(11;22)(q24;q12) balanced translocation, resulting in the production of a novel chimerical EWS/FLI-1 message. '), ('3836', 'RBP56_CHN', 't(9;22)(q22;q12) / t(9;17)(q22;q11) / t(9;15)(q22;q21) / ', 'RBP56', 'CHN', '15187889', '102', 'chondrosarcoma', '', '', '', '', '', '', '', '', 'In each of these translocations, the CHN gene is involved, resulting in the chimeric fusion genes EWS/CHN, RBP56/CHN, and TCF12/CHN, respectively. '), ('3837', 'ETO_AML1', '', 'ETO', 'AML1', '18839034', '102', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Key Words: Pediatric acute myeloid leukemia , AML1/ETO fusion gene , RT-PCR , Clinical outcome , Prognostic significance..     ///    The aim of this work is to study the frequency of AML1/ETO fusion gene in a series of Egyptian childhood AML cases.     ///    \"In conclusion, we report a frequency of 19.2% of AML1/ETO fusion gene in our newly diagnosed pediatric AML cases. \"    ///    AML1/ETO Fusion Gene in de novo Pediatric Acute Myeloid Leukemia: Clinical Significance and Prognostic Implications..     ///    \"On comparing the AML1/ETO fusion gene status with overall survival, no significant difference was found between AML1/ETO positive and negative cases. \"    ///    AML1/ ETO fusion transcript was detected by the reverse transcriptase- polymerase chain reaction (RT-PCR) technique.     ///    The AML1/ETO fusion transcript was detected by a singleround RT-PCR reaction and was found to be expressed in 15 out of 78 cases (19.2%).     ///    \"AML1/ETO positive patients were 7 girls and 8 boys, with ages ranging from 5 to 15 years. \"'), ('3838', 'RUNX1_ETO', 't(8;21)  / inv(16)  / inv(16) / ', 'RUNX1', 'ETO', '18663147', '102', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'We further demonstrated that this RUNX3 repression was mediated not by P2 methylation, but RUNX1-ETO and CBFbeta-MYH11, the fusion products of t(8;21) and inv(16), via a novel transcriptional mechanism that acts directly or indirectly in collaboration with RUNX1, on 2 conserved RUNX binding sites in the P1 promoter.     ///    \"In in vitro studies, ectopically expressed RUNX1-ETO and CBFbeta-MYH11 also inhibited endogenous RUNX3 expression. \"'), ('3839', 'ETO_AML1', '', 'ETO', 'AML1', '16638186', '102', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The results showed that 4 types of fusion genes such as PML/RARA, AML1/ETO, CBFbeta/MYH11, BCR/ABL were detected in 8 (21.6%) patients by multiplex RT-PCR. '), ('3840', 'RUNX1_ETV6', 't(12;21)  / t(15;17)  / ', 'RUNX1', 'ETV6', '20211010', '102', 'acute lymphoblastic leukemia;myeloid leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'This study revealed that e.g., the t(12;21) [ETV6-RUNX1] subtype of ALL and the t(15;17) [PML-RARA] subtype of AML had transcriptional programs similar to those in normal Pro-B cells and promyelocytes, respectively. '), ('3841', 'RARA_PML', 't(12;21)  / t(15;17)  / ', 'RARA', 'PML', '20211010', '102', 'acute lymphoblastic leukemia;myeloid leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'This study revealed that e.g., the t(12;21) [ETV6-RUNX1] subtype of ALL and the t(15;17) [PML-RARA] subtype of AML had transcriptional programs similar to those in normal Pro-B cells and promyelocytes, respectively. '), ('3842', 'TFE3_RCC', '', 'TFE3', 'RCC', '12351585', '102', 'renal cell carcinoma\r\r', '', '', '', '', '', '', '', '', 'A PRCC-TFE3 fusion gene is typically encountered in t(X;1)-positive non-familial papillary RCCs and results in abrogation of the cell cycle mitotic spindle checkpoint in a dominant-negative fashion, thus leading to RCC. '), ('3843', 'TIF2_MOZ', 't(8;16)(p11;p13) / inv(8)(p11q13) / t(8;16)  / inv(8)  / ', 'TIF2', 'MOZ', '9558366', '102', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'We speculate that the apparently identical leukemia cell phenotype observed in cases with the t(8;16) and the inv(8) arises by recruitment of CBP by MOZ-TIF2, resulting in modulation of the transcriptional activity of target genes by a mechanism involving abnormal histone acetylation..     ///    MOZ-TIF2 retains the histone acetyltransferase homology domains of both proteins and also the CBP binding domain of TIF2. '), ('3844', 'SEPT2_MLL', '', 'SEPT2', 'MLL', '19748670', '102', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'We have recently shown a significant down-regulation of both SEPT2 and MLL in myeloid neoplasias with the MLL-SEPT2 fusion gene.     ///    \"In this study, we examined the expression pattern of the other 13 known septin genes in altogether 67 cases of myeloid neoplasia, including three patients with the MLL-SEPT2 fusion gene, four with MLL-SEPT6 fusion, and three patients with the MLL-SEPT9 fusion gene. \"    ///    \"Using hierarchical clustering analysis to compare acute myeloid leukemia genetic subgroups based on their similarity of septin expression changes, we found that MLL-SEPT2 and MLL-SEPT6 neoplasias cluster together apart from the remaining subgroups and that PML-RARA leukemia presents under-expression of most septin family genes.. \"'), ('3845', 'TRE_CAT', '', 'TRE', 'CAT', '1587392', '102', '', '', '', '', '', '', '', '', '', 'In COS-7 cells, they fail to cause transactivation of a TRE-CAT fusion gene.     ///    \"When the DBDPs were expressed in COS-7 cells using a pCB6+ expression vector, they did not induce expression of a TRE-CAT fusion gene. \"'), ('3846', 'ETO_AML1', 't(8;21) / ', 'ETO', 'AML1', '19826043', '102', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Both Runx1 and the t(8;21)-encoded AML1-ETO occupy the miR-24-23-27 locus and reciprocally control miR-24 transcription. '), ('3847', 'EWS_ATF1', 't(12;22)(q13;q12) / t(12;22) / ', 'EWS', 'ATF1', '11992546', '101', 'clear cell sarcoma;clear cell sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', 'The cytogenetic hallmark is the translocation t(12;22)(q13;q12) resulting in a chimeric EWS/ATF1 gene in which the 3\'-terminal part of EWS at 22q is replaced by the 3\'-terminal part of ATF1 at 12q.     ///    \"The type 2 transcript of EWS/ATF1, an in-frame fusion of exon 7 of EWS with exon 5 of ATF1, was detected in 4 patients, as the only transcript in 1 case and together with other variants in 3 cases. \"    ///    RT-PCR amplified EWS/ATF1 cDNA fragments in all patients and ATF1/EWS cDNA fragments in 6 of 10 patients.     ///    \"Sequencing of the amplified ATF1/EWS cDNA fragments showed in 5 patients that ATF1 exon 3 was fused with EWS exon 10, resulting in an out-of-frame chimeric transcript. \"    ///    \"As an initial step in the characterization of the EWS/ATF1 and ATF1/EWS chimeras, we constructed an exon/intron map of the ATF1 gene. \"'), ('3848', 'FLI_EWS', '', 'FLI', 'EWS', '8246959', '101', 'neuroectodermal tumor;ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The Ewing\'s sarcoma EWS/FLI-1 fusion gene encodes a more potent transcriptional activator and is a more powerful transforming gene than FLI-1..     ///    We now demonstrate that EWS/FLI-1 has the characteristics of an aberrant transcription factor.     ///    \"When coupled to a GAL4 DNA-binding domain, the amino-terminal EWS/FLI-1 region was a much more potent transcriptional activator than the corresponding amino-terminal domain of FLI-1. \"    ///    \"These data suggest that EWS/FLI-1, functioning as a transcription factor, leads to a phenotype dramatically different from that of cells expressing FLI-1. \"    ///    EWS/FLI-1 could disrupt normal growth and differentiation either by more efficiently activating FLI-1 target genes or by inappropriately modulating genes normally not responsive to FLI-1..     ///    EWS/FLI-1 specifically bound in vitro an ets-2 consensus sequence similarly to normal FLI-1.     ///    \"Finally, EWS/FLI-1 efficiently transformed NIH 3T3 cells, but FLI-1 did not. \"    ///    Subcellular fractionation experiments localized the EWS/FLI-1 protein to the nucleus of primitive neuroectodermal tumor cells.     ///    \"EWS/FLI-1 has been shown to be a potent transforming gene, suggesting that it plays an important role in the genesis of these human tumors. \"    ///     EWS/FLI-1 is a chimeric protein formed by a tumor-specific 11;22 translocation found in both Ewing\'s sarcoma and primitive neuroectodermal tumor of childhood. '), ('3849', 'MYH11_CBFB', '', 'MYH11', 'CBFB', '15585652', '101', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The frequent inversion of chromosome 16 creates the CBFB-MYH11 fusion gene that encodes the fusion protein CBFbeta-SMMHC.     ///    \"In this study, we demonstrate that Plag1 and Plagl2 independently cooperate with CBF beta-SMMHC in vivo to efficiently trigger leukemia with short latency in the mouse. \"    ///    \"Overall, this study shows that Plag1 and Plagl2 are novel leukemia oncogenes that act by expanding hematopoietic progenitors expressing CbF beta-SMMHC.. \"    ///    A recent genetic screen identified Plag1 and Plagl2 as CBF beta-SMMHC candidate cooperating proteins. '), ('3850', 'MECT1_MAML2', '', 'MECT1', 'MAML2', '16652146', '101', 'salivary gland cancer\r\r', '', '', '', '', '', '', '', '', 'Mucoepidermoid (MEC) salivary gland tumors arise from a t(11;19) rearrangement which generates a fusion oncogene, Mect1-Maml2, that functions to activate CREB-responsive target genes.'), ('3851', 'SLC45A3_BRAF', '', 'SLC45A3', 'BRAF', '20526349', '101', 'prostate cancer;gastric cancer;lung cancer;melanoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Here we used paired-end transcriptome sequencing to screen ETS rearrangement-negative prostate cancers for targetable gene fusions and identified the SLC45A3-BRAF (solute carrier family 45, member 3-v-raf murine sarcoma viral oncogene homolog B1) and ESRP1-RAF1 (epithelial splicing regulatory protein-1-v-raf-1 murine leukemia viral oncogene homolog-1) gene fusions.     ///    \"Here we used paired-end transcriptome sequencing to screen ETS rearrangement-negative prostate cancers for targetable gene fusions and identified the SLC45A3-BRAF (solute carrier family 45, member 3-v-raf murine sarcoma viral oncogene homolog B1) and ESRP1-RAF1 (epithelial splicing regulatory protein-1-v-raf-1 murine leukemia viral oncogene homolog-1) gene fusions.\"    ///    Expression of SLC45A3-BRAF or ESRP1-RAF1 in prostate cells induced a neoplastic phenotype that was sensitive to RAF and mitogen-activated protein kinase kinase (MAP2K1) inhibitors. '), ('3852', 'TEL_AML1', '', 'TEL', 'AML1', '18635414', '101', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'This study used reverse transcriptase-polymerase chain reaction techniques to detect transcripts of the leukemia-specific chromosome fusion gene, TEL/AML1, and to monitor the expression levels of the TEL-AML1 fusion transcript in ALL patients at sequential intervals during their treatment course.     ///    TEL/AML1 fusion gene in childhood acute lymphoblastic leukemia in southern Taiwan..     ///    The incidence of the TEL/AML1 fusion gene in this study was 32%.     ///    Blotting analysis of the levels of the TEL-AML1 fusion transcript was used to detect minimal residual disease.     ///    The clinical features of our eight TEL/AML1-positive ALL cases were similar to those in other studies.     ///    Reduced levels of TEL/AML1 expression were found in four of the six patients whose bone marrow or peripheral blood samples were obtained after treatment. '), ('3853', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '12865925', '101', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Most strikingly, upregulated PAX7 expression is almost entirely restricted to cases without PAX3-FKHR or PAX7-FKHR fusion genes and may contribute to tumorigenesis in the absence of chimaeric PAX transcription factors. '), ('3854', 'PAX7_FKHR', '', 'PAX7', 'FKHR', '12865925', '101', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Most strikingly, upregulated PAX7 expression is almost entirely restricted to cases without PAX3-FKHR or PAX7-FKHR fusion genes and may contribute to tumorigenesis in the absence of chimaeric PAX transcription factors. '), ('3855', 'NOR1_EWS', '', 'NOR1', 'EWS', '11673470', '101', 'chondrosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The resulting fusion gene product, EWS/NOR1, has been believed to lead to malignant transformation by functioning as a transcriptional activator, but an alternative mechanism may also be involved.     ///    The EWS/NOR1 fusion gene product gains a novel activity affecting pre-mRNA splicing..     ///    \"To verify the potential function of EWS/NOR1 in mammalian cells, we next showed that overexpression of EWS/NOR1 caused increased usage of the distal 5\'-splice site of pre-mRNA splicing and that EWS/NOR1 interacted with the human splicing protein U1C. \"    ///    neither EWS nor NOR1 had the same activity or interaction as EWS/NOR1.     ///    \"Altogether, our findings reveal that EWS/NOR1 gains a novel activity affecting pre-mRNA splicing.. \"    ///    \"Here, using a newly developed functional complementation screening in yeast, we found that EWS/NOR1, but not EWS or NOR1, complemented the loss of function of the small nuclear ribonucleoprotein Snu23p, an essential factor for pre-mRNA splicing in yeast. \"'), ('3856', 'BCAS4_BCAS3', '', 'BCAS4', 'BCAS3', '21305644', '101', 'thyloid cancer;leukemia;breast cancer\r\r', '', '', '', '', '', 'Transcription_Factor', '', 'Seq', 'Two additional fusion genes, BCAS4-BCAS3 in the MCF-7 breast cancer cell line and CCDC6-RET in the TPC-1 thyroid cancer cell line were validated as true positive fusion transcripts. '), ('3857', 'MLLT3_MLL', 't(9;11)(p22;q23) / ', 'MLLT3', 'MLL', '21844580', '101', 'acute myeloid leukemia;myeloid leukemia;leukemia;breast cancer\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', '', '', 'Seq', 'CKIT mutation in therapy-related acute myeloid leukemia with MLLT3/MLL chimeric transcript from t(9;11)(p22;q23).. '), ('3858', 'PHF1_EPC1', '', 'PHF1', 'EPC1', '24285434', '101', 'endometrial stromal sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'As similar gene fusions were reported in endometrial stromal sarcomas, we screened for potential gene abnormalities in JAZF1 and EPC1 by FISH and found two additional cases with EPC1-PHF1 fusions..     ///    \"Novel ZC3H7B-BCOR, MEAF6-PHF1, and EPC1-PHF1 fusions in ossifying fibromyxoid tumors--molecular characterization shows genetic overlap with endometrial stromal sarcoma.. \"'), ('3859', 'EWS_ERG', 't(21;22)(q22;q12) / ', 'EWS', 'ERG', '15974803', '100', 'sarcoma\r\r', '', '', '', '', '', '', '', '', ' The EWS-ERG fusion protein is found in human sarcomas with the chromosomal translocation t(21;22)(q22;q12), where the translocation is considered to be an initiating event in sarcoma formation within uncommitted mesenchymal cells, probably long-lived progenitors capable of self renewal.     ///    \"To assess whether EWS-ERG can be a tumour initiator in cells other than mesenchymal cells, we have analysed Ews-ERG fusion protein function in a cellular environment not typical of that found in human cancers, namely, committed lymphoid cells. \"'), ('3860', 'FUS_ERG', 't(16;21)(p11;q22) / t(16;21)(p11;q22) / / ', 'FUS', 'ERG', '11505530', '100', 'leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', '[AML(M7) associated with t(16;21)(p11;q22) showing relapse after unrelated bone marrow transplantation and disappearance of TLS/FUS-ERG mRNA].    ///    [AML(M7) associated with t(16;21)(p11;q22) showing relapse after unrelated bone marrow transplantation and disappearance of TLS/FUS-ERG mRNA]..     ///    \"During hematological remission before U-BMT, the TLS/FUS-ERG chimeric transcript of t(16;21)(p11;q22) was consistently detectable as minimal residual disease (MRD) by RT-PCR. \"'), ('3861', 'MLL_ABI1', 't(10;11) / t(10;11)  / t(10;11)(p12;q23) / p11.2;q23 / ', 'MLL', 'ABI1', '11477655', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', 'Tumor_suppressor', '', '', 'KB', '', 'Further functional analysis of the MLL-AF10 and MLL-ABI1 fusion proteins will provide new insights into the leukemogenesis of t(10;11)-AML..     ///    \"To clarify the clinical features of t(10;11)-leukemias, we investigated 6 samples from acute leukemia patients with t(10;11) and MLL rearrangement and detected MLL-AF10 chimeric transcripts in 5 samples and MLL-ABI1 in one. \"    ///    t(10;11)-acute leukemias with MLL-AF10 and MLL-ABI1 chimeric transcripts: specific expression patterns of ABI1 gene in leukemia and solid tumor cell lines..     ///    \"The patient with MLL-ABI1 chimeric transcript is the second case described, thus confirming that the fusion of the MLL and ABI1 genes is a recurring abnormality. \"    ///    \"Both of the patients with MLL-ABI1 chimeric transcript are surviving, suggesting that these patients have a better prognosis than the patients with MLL-AF10. \"'), ('3862', 'MLL_LTG19', 't(11;19)  / t(11;19) / ', 'MLL', 'LTG19', '9731482', '100', 'leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'These results suggest that the MLL-LTG19 fusion protein contributes to cell proliferation and malignant transformation in infantile acute leukemia cells carrying the t(11;19) translocation..     ///    \" To clarify the role of the multiple lineage leukemia gene-leukemia translocation gene of chromosome 19 (MLL-LTG19) protein in leukemogenesis, we synthesized antisense oligodeoxyribonucleotide (ODN) against the fused region of the MLL-LTG19 chimeric transcript and treated KOCL33 cells carrying the t(11;19) translocation with antisense ODN. \"    ///    Antisense oligodeoxyribonucleotide against the MLL-LTG19 chimeric transcript inhibits cell growth and induces apoptosis in cells of an infantile leukemia cell line carrying the t(11;19) chromosomal translocation..     ///    The levels of MLL-LTG19 mRNA and MLL-LTG19 protein in KOCL33 cells treated with antisense ODN were shown to decrease with time by reverse transcription-PCR and Western blot analysis. '), ('3863', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '17560011', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' AML1-ETO fusion protein is a product of chromosome translocation t(8;21) frequently occurred in acute myeloid leukemia (AML), but its sole expression appears to fail to cause overt leukemia in vivo.     ///    \"Additionally, AML1-ETO protein also increased AhR expression, a ligand-activated transcription factor that mediates PAHs-induced CYP1A1 gene expression. \"    ///    Luciferase reporter system was used to detect the regulation of AML1-ETO on CYP1A1 transcription.     ///    \"In line with the effect, we also found that AML1-ETO induction upregulated CYP1A1 expression, which was dependent on AML1-binding motif in the promotor of CYP1A1 gene. \"    ///    Our results showed that AML1-ETO induction significantly increased the formation of carcinogen benzopyrene-DNA adducts in leukemic cells.     ///    \"These data, combined with its inhibitory effect on DNA repair as reported previously, propose that the presence of AML1-ETO increases the susceptibility of cells to chemical carcinogens, which favors the development of additional genetic alterations.. \"    ///    \"In this study, we investigated whether AML1-ETO expression impinged on action of chemical carcinogens-DNA adduct formation. \"    ///    AML1-ETO fusion protein was conditionally induced in engineered U937-A/E 9/14/18 cells.     ///    Leukemogenic AML1-ETO fusion protein increases carcinogen-DNA adduct formation with upregulated expression of cytochrome P450-1A1 gene.. '), ('3864', 'PAX3_FKHR', 't(2;2)(q35;p23) / ', 'PAX3', 'FKHR', '15313887', '100', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'In addition, the alveolar rhabdomyosarcoma signature was used to classify an additional alveolar rhabdomyosarcoma case lacking any known PAX3 or PAX7 fusion as belonging to the translocation-positive group, leading to the identification of a novel translocation t(2;2)(q35;p23), which generates a fusion protein composed of PAX3 and the nuclear receptor coactivator NCOA1, having similar transactivation properties as PAX3/FKHR. '), ('3865', 'LPP_HMGA2', 't(3;12)  / ', 'LPP', 'HMGA2', '16375854', '100', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' In a subset of human lipomas, a specific t(3;12) chromosome translocation gives rise to HMGA2-LPP fusion protein, containing the amino (N)-terminal DNA binding domains of HMGA2 fused to the carboxyl (C)-terminal LIM domains of LPP.     ///    Overexpression of HMGA2-LPP fusion transcripts promotes expression of the alpha 2 type XI collagen gene..     ///    RT-PCR analysis revealed that HMGA2-LPP transcripts in lipomas with the fusion were 591-fold of full-length HMGA2 transcripts in lipomas without the fusion.     ///    \"Here, we analyzed whether HMGA2-LPP promotes chondrogenic differentiation, a marker of which is transactivation of the alpha 2 type XI collagen gene (Col11a2). \"    ///    Real-time PCR analysis showed that HMGA2-LPP and COL11A2 were co-expressed.     ///    \"Luciferase assay demonstrated that either of HMGA2-LPP, wild-type HMGA2 or the N-terminal HMGA2 transactivated the Col11a2 promoter in HeLa cells, while the C-terminal LPP did not. \"    ///    These results indicate that in vivo overexpression of HMGA2-LPP promotes chondrogenesis by upregulating cartilage-specific collagen gene expression through the N-terminal DNA binding domains..     ///    \"In addition to its role in adipogenesis, several observations suggest that HMGA2-LPP is linked to chondrogenesis. \"'), ('3866', 'MAML2_CRTC1', 't(11;19)  / ', 'MAML2', 'CRTC1', '18647217', '100', 'mucoepidermoid carcinoma\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'After inconsistent reports, current information from molecular studies suggests that a recurrent t(11;19) and associated CRTC1-MAML2 fusion oncogene characterizes a subset of Warthin\'s tumours and supports a clonal origin in such cases.     ///    CRTC1-MAML2 is also a frequent feature of mucoepidermoid carcinoma.     ///    \"These findings, and the recent reports of Warthin\'s tumour and co-existent mucoepidermoid carcinoma with common CRTC1-MAML2 expression, provide a morphological and molecular framework for future studies as a basis for a fresh appraisal of the pathogenesis of Warthin\'s tumour. \"    ///    \"These findings, and the recent reports of Warthin\'s tumour and co-existent mucoepidermoid carcinoma with common CRTC1-MAML2 expression, provide a morphological and molecular framework for future studies as a basis for a fresh appraisal of the pathogenesis of Warthin\'s tumour.\"'), ('3867', 'FUS_DDIT3', 't(12;16)(q13;p11) / t(12;22)(q13;q12) / / ', 'FUS', 'DDIT3', '17586092', '100', 'liposarcoma;sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'We aimed to study the usefulness of trabectedin in the treatment of patients with myxoid liposarcomas, a subtype of liposarcoma that is associated with specific chromosomal translocations t(12;16)(q13;p11) or t(12;22)(q13;q12) that result in the formation of DDIT3-FUS or DDIT3-EWSR1 fusion proteins.    ///    \"We aimed to study the usefulness of trabectedin in the treatment of patients with myxoid liposarcomas, a subtype of liposarcoma that is associated with specific chromosomal translocations t(12;16)(q13;p11) or t(12;22)(q13;q12) that result in the formation of DDIT3-FUS or DDIT3-EWSR1 fusion proteins. \"'), ('3868', 'MLL_AF10', 't(10;11) / t(10;11)  / t(10;11)(p12;q23) / p11.2;q23 / ', 'MLL', 'AF10', '11477655', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Further functional analysis of the MLL-AF10 and MLL-ABI1 fusion proteins will provide new insights into the leukemogenesis of t(10;11)-AML..     ///    \"To clarify the clinical features of t(10;11)-leukemias, we investigated 6 samples from acute leukemia patients with t(10;11) and MLL rearrangement and detected MLL-AF10 chimeric transcripts in 5 samples and MLL-ABI1 in one. \"    ///    t(10;11)-acute leukemias with MLL-AF10 and MLL-ABI1 chimeric transcripts: specific expression patterns of ABI1 gene in leukemia and solid tumor cell lines..     ///    \"Both of the patients with MLL-ABI1 chimeric transcript are surviving, suggesting that these patients have a better prognosis than the patients with MLL-AF10. \"'), ('3869', 'JAK2_BCR', 't(9;22)  / p24;q11.2 / ', 'JAK2', 'BCR', '18537978', '100', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Leukaemia cutis in atypical chronic myeloid leukaemia with a t(9;22) (p24;q11.2) leading to BCR-JAK2 fusion.. '), ('3870', 'TCF3_PBX1', 't(1;19)(q23;p13) / ', 'TCF3', 'PBX1', '22948124', '100', 'down syndrome', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Acute lymphoblastic leukemia with t(1;19)(q23;p13)/TCF3-PBX1 fusion in an adult male with Down Syndrome.. '), ('3871', 'ETO_AML1', 't(8;21) / ', 'ETO', 'AML1', '17367753', '100', 'leukemia\r\r', '', '', '', '', '', '', '', '', ' AML1-ETO fusion protein, a product of leukemia-related chromosomal translocation t(8;21), was reported to upregulate expression of connexin-43 (Cx43), a member of gap junction-constituted connexin family.     ///    \"AML1-ETO could directly bind to these two AML1-binding sites in electrophoretic mobility shift assay, but luciferase reporter assay revealed that the AML1 binding sites were not indispensable for Cx43 induction by AML1-ETO protein. \"'), ('3872', 'EML4_ALK', 'inv (2)(p21p23) / ', 'EML4', 'ALK', '19064915', '100', 'lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' EML4-ALK is a fusion-type protein tyrosine kinase that is generated in human non-small-cell lung cancer (NSCLC) as a result of a recurrent chromosome inversion, inv (2)(p21p23).     ///    \"injection of 3T3 cells expressing EML4-ALK induced lethal respiratory failure in recipient nude mice, administration of the ALK inhibitor effectively cleared the tumor burden and improved the survival of such animals. \"    ///    \"These data together reinforce the pivotal role of EML4-ALK in the pathogenesis of NSCLC in humans, and they provide experimental support for the treatment of this intractable cancer with ALK inhibitors.. \"    ///    \"To address this issue, we have now established transgenic mouse lines that express EML4-ALK specifically in lung alveolar epithelial cells. \"    ///    \"To address this issue, we have now established transgenic mouse lines that express EML4-ALK specifically in lung alveolar epithelial cells.\"'), ('3873', 'ETO_AML1', 't(8;21) / ', 'ETO', 'AML1', '17252013', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Both, Kasumi-1 and SKNO-1 cells carry the chromosomal translocation t(8;21), leading to aberrant expression of the fusion protein AML1/ETO.     ///    \"CPLDIDFYC also strongly and specifically bound primary AML1/ETO-positive AML blasts as well as U-937 cells with forced AML1/ETO expression, suggesting that the CPLDIDFYC receptor may be upregulated upon AML1/ETO expression. \"'), ('3874', 'TCF3_PBX1', 't(1;19) / t(1;19)  / ', 'TCF3', 'PBX1', '19282835', '100', 'precursor B cell leukemia', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Increased risk for CNS relapse in pre-B cell leukemia with the t(1;19)/TCF3-PBX1..     ///    \"These data suggest that with contemporary treatment, patients with the t(1;19) and TCF3/PBX1 fusion have a favorable overall outcome but increased risk of CNS relapse.. \"'), ('3875', 'FLI_EWS', 't(11;22)  / ', 'FLI', 'EWS', '20665663', '100', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The majority of these tumors harbor the t(11;22) translocation and express the fusion protein EWS-FLI.     ///    EWS-FLI alters the morphology of mesenchymal cells and prevents lineage specification.     ///    \"In this report, we demonstrate that FLI sequences within EWS-FLI are responsible for interactions with Runx2. \"    ///    \"We recently showed that EWS-FLI binds Runx2, a master regulator of osteoblast differentiation. \"    ///    EWS-FLI blocks the expression of osteoblastic genes in a multipotent progenitor cell line that requires Runx2 to integrate bone morphogenic protein (Bmp)2 signaling while increasing proliferation and altering cell morphology.     ///    These results demonstrate that EWS-FLI blocks the ability of Runx2 to induce osteoblast specification of a mesenchymal progenitor cell.     ///    \"The Ewing\'s sarcoma fusion protein, EWS-FLI, binds Runx2 and blocks osteoblast differentiation.. \"'), ('3876', 'NME8_GPR141', '7p14.1 / ', 'NME8', 'GPR141', '25672891', '100', 'periodontitis', '', 'Kinase', '', '', 'Receptor', '', '', '', 'Although single-nucleotide polymorphisms that surpassed a stringent genome-wide significance threshold (P < 5 ?? 10(-8)) were not identified, we found 2 suggestive loci for periodontitis: KCNQ5 on chromosome 6q13 (rs9446777, P = 4.83 ?? 10(-6), odds ratio = 0.82) and GPR141-NME8 at chromosome 7p14.1 (rs2392510, P = 4.17 ?? 10(-6), odds ratio = 0.87).     ///    A stratified analysis indicated that the GPR141-NME8 locus had a strong genetic effect on the susceptibility to generalized periodontitis in Japanese individuals with a history of smoking. '), ('3877', 'EHF_APIP', 'chr3q29  / chr5p15.3 / chr6p21.3 / chr11p12- / ', 'EHF', 'APIP', '26417704', '100', 'cystic fibrosis\r\r', '', '', '', '', '', '', '', '', 'The fifth locus, on chr11p12-p13 (EHF/APIP. '), ('3878', 'CDKN2B_CDKN2A', '9p21.3 / ', 'CDKN2B', 'CDKN2A', '21713760', '100', 'glioblastoma multiforme\r\r', '', 'Kinase', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'To obtain a comprehensive view of these events, we leveraged the wide-spectrum GBM data available from The Cancer Genome Atlas project and performed an integrated analysis by systematically evaluating 9p21.3-related germline single-nucleotide polymorphisms, somatic copy number alterations (CNAs), DNA methylation, and microRNAs (miRNAs) with regard to CDKN2A/CDKN2B expression and patient prognosis in GBM.     ///    \"A variety of germline and somatic, genetic and epigenetic alterations at 9p21.3, which encode CDKN2A/CDKN2B tumor suppressor genes, have been isolatedly reported to be associated with GBM risk and prognosis. \"'), ('3879', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '22261333', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'We examined the significance of t(8;21) chromosomal aberration for VPA treatment response among acute myeloid leukemia (AML) patients by direct comparison of AML1/ETO-negative vs.     ///    AML1/ETO-positive leukemia shows specific mechanism of VPA residing from differentiation followed by apoptosis that is accompanied by an increase in the expression of repressed AML1 target genes.     ///    VPA induced apoptosis in AML1/ETO-positive and MLL-AF4-positive cells in a dose-dependent manner.     ///    \"VPA increased the expression of AML1 target genes - PU.1, C/EBPa, BPI and IGFBP7 only in AML1/ETO-positive cells. \"    ///    \"Differentiation, as indicated by changes in immunophenotype, was observed only in AML1/ETO-positive cells. \"    ///    Our data suggest that AML1/ETO-positive patients might derive the greatest benefit from VPA treatment..     ///    Valproic acid triggers differentiation and apoptosis in AML1/ETO-positive leukemic cells specifically..     ///    This AML1/ETO-specific effect was confirmed also using patient blasts isolated at the time of diagnosis. '), ('3880', 'HMG1L1_CTCFL', 'chr5p11. / ', 'HMG1L1', 'CTCFL', '23300278', '100', '', '', '', '', '', '', '', '', '', 'In combined South Asian meta-analysis, we observed six suggestive associations (P < 10?? to < 10??), including SNPs at HMG1L1/CTCFL, PLXNA4, SCAP, and chr5p11. '), ('3881', 'IGF2_H19', '11p15.5 / ', 'IGF2', 'H19', '20082469', '100', '', '', '', '', '', '', '', '', '', 'To further characterize the role of epimutations in RSS we evaluated the methylation status at both 11p15.5 imprinting control regions (ICRs): ICR1 associated with H19/IGF2 expression and ICR2 (KvDMR1) associated with CDKN1C expression in a series of 35 patients with RSS.     ///    \"While the association of hypomethylation of the H19/IGF2 ICR1 is clear, the continuous distribution of methylation values among the patients and controls complicates the establishment of clear cut-offs for clinical diagnosis.. \"'), ('3882', 'BP5_BP4', '16p11.2 / ', 'BP5', 'BP4', '25421402', '100', '', '', '', '', '', '', '', '', '', 'Reciprocal copy number variants at the 16p11.2 BP4-BP5 locus offer a unique opportunity to study the intermediate phenotypes in carriers at high risk for autism spectrum disorder (ASD) or schizophrenia (SZ). '), ('3883', 'FLI_EWS', 't(11;22) / ', 'FLI', 'EWS', '10582694', '100', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'These tumors contain a characteristic translocation, t(11;22), that produces a unique fusion protein, EWS/FLI-1.     ///    EWS/FLI-1 transforms mouse fibroblasts. '), ('3884', 'STAG1_PCCB', '6p22.3 / 6p21.32 / 8p23.1 / 11p15.4 / 8p21.3 / 2p23.3 / ', 'STAG1', 'PCCB', '19936222', '100', '', '', '', '', '', '', '', '', '', 'Among 36 loci with genome-wide significance (P<5x10(-8)) in primary and secondary analysis, ten (PCCB/STAG1 (3q22.3), GMPR/MYLIP (6p22.3), BTNL2 (6p21.32), KLF14 (7q32.2), 8p23.1, JMJD1C (10q21.3), SBF2 (11p15.4), 12q23.2, CCDC92/DNAH10/ZNF664 (12q24.31.B), and WIPI1 (17q24.2)) have not been reported in prior genome-wide association studies for plasma lipid concentration. '), ('3885', 'PDGFRB_COL1A1', 't(17,22)  / t(17,22)  /  / ', 'PDGFRB', 'COL1A1', '24557199', '100', 'giant cell fibroblastoma', '', 'Kinase', '', '', 'Receptor', '', '', '', 'Both tumours contain a t(17,22) translocation leading to generation of fusion protein COL1A1-PDGFRB. '), ('3886', 'FGF18_BTRC2', '8p21.3 / ', 'FGF18', 'BTRC2', '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. '), ('3887', 'UTP23_EIF3H', '20p12.3 / ', 'UTP23', 'EIF3H', '22367214', '100', 'colorectal cancer\r\r', '', '', '', '', '', '', '', '', 'We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). '), ('3888', 'MLLT3_MLL', 'p22;q23 / t(6;9)  / inv(3)  / ', 'MLLT3', 'MLL', '19860179', '100', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia;polycythemia vera\r\r', '', '', 'Oncogene', '', '', '', '', 'Seq', 'MLLT3-MLL, AML with t(6;9) (p23. '), ('3889', 'TNNT3_LSP1', '8p11.23 / ', 'TNNT3', 'LSP1', '25342443', '100', 'breast cancer\r\r', '', '', '', '', '', '', '', '', 'We identify genome-wide significant (P<5 ?? 10(-8)) loci for dense area (AREG, ESR1, ZNF365, LSP1/TNNT3, IGF1, TMEM184B and SGSM3/MKL1), non-dense area (8p11.23) and percent density (PRDM6, 8p11.23 and TMEM184B). '), ('3890', 'FUT2_FUT1', '19p13.3 / ', 'FUT2', 'FUT1', '7656588', '100', '', '', '', '', '', '', '', '', '', 'Comparison of genetic and physical maps suggests that the FUT6-FUT3-FUT5 cluster is located on 19p13.3 and the FUT1-FUT2 cluster on 19q13.3. '), ('3891', 'CD56_CD19', 't(8;21) (q22;q22) / t(8;21)(q22;q22) / t(8;21) / t(8;21)  / ', 'CD56', 'CD19', '19369623', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Compared with patients with de novo AML-t(8;21), patients with t-AML-t(8;21) were older (P = .001) and had a lower WBC count (P = .039), substantial morphologic dysplasia, and comparable CD19/CD56 expression. '), ('3892', 'P24_P23', '3p14.1 / 3p14.3 / 3p22.2 / 3p25.3 / 3p26.3 / 17p13.1 / ', 'P24', 'P23', '17931740', '100', 'small cell carcinoma\r\r', '', '', '', '', '', '', '', '', 'Eight MDRs at 2q35, 3p14.1-3p14.3, 3p22.2-p23, 3p25.3-3p26.3, 5q35.1-q35.2, 9p23-p24.1, 13q14.11-q14.2, and 17p13.1-p13.2 were found in lung SCC. '), ('3893', 'TERT_CLPTM1L', '5p15.33 / ', 'TERT', 'CLPTM1L', '24679952', '100', 'non small cell lung cancer;lung cancer\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'After taking into account multiple comparisons, one GSV remained significant: rs4975616 on chromosome 5p15.33, located near the TERT-CLPTM1L gene.     ///    A genetic sequence variant (GSV) at susceptibility loci of 5p15.33 (TERT-CLPTM1L) is associated with survival outcome in locally advanced and metastatic non-small-cell lung cancer (NSCLC).. '), ('3894', 'SASH1_SAMD5', '3p21.31 / 12p12.1 / ', 'SASH1', 'SAMD5', '25015694', '100', '', '', '', '', '', '', '', 'KB', '', 'These included 6q24.3 (near SAMD5/SASH1, p?= 9.36??? 10(-8)), 4q12 (IGFBP7, p?= 1.75??? 10(-7)), 6q22.33 (C6orf174, p?= 4.86??? 10(-7)), 3p21.31 (CDCP1, p?= 1.18??? 10(-6)), 12p12.1 (SOX5, p?= 1.62??? 10(-6)), and 7p11 (LANCL2, p?= 6.51??? 10(-6)). '), ('3895', 'RUNX1_ETV6', 't(4;11) / t(12;21) / ', 'RUNX1', 'ETV6', '21172890', '100', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'they were less likely to have the t(12;21)(ETV6-RUNX1) compared with younger patients. '), ('3896', 'RUNX1T1_RUNX1', 't(8;21)  / t(4;21;8)(q25;q22;q22) / t(4;21;8)  / t(8;21)(q22;q22) / ', 'RUNX1T1', 'RUNX1', '19167612', '100', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'The presence of this novel variant of t(8;21)(q22;q22) associated with trisomy 6 may have abrogated the usual favorable prognosis associated with RUNX1T1/RUNX1 in AML..     ///     RUNX1T1/RUNX1 (formerly ETO/AML1) is a molecular marker that is usually associated with a favorable outcome in both pediatric and adult patients with acute myeloid leukemia (AML).     ///    We describe a 10-year-old girl with AML associated with an RUNX1T1/RUNX1 fusion. '), ('3897', 'TYW3_CRYZ', '19p13.2 / ', 'TYW3', 'CRYZ', '22843503', '100', 'coronary heart disease\r\r', '', '', '', '', '', '', '', 'Seq', 'We confirmed the association with a previously known locus, the RETN gene (19p13.2), and identified two novel loci near the TYW3/CRYZ gene (1p31) and the NDST4 gene (4q25), associated with resistin levels at a genome-wide significant level, best represented by SNP rs3931020 (P = 6.37 ?? 10(-12)) and SNP rs13144478 (P = 6.19 ?? 10(-18)), respectively.     ///    Our results suggest that genetic variants in TYW3/CRYZ and NDST4 loci may be involved in the regulation of circulating resistin levels.     ///    \"In addition, the resistin-rising allele of the TYW3/CRYZ SNP rs3931020, but not the NDST4 SNP rs13144478, showed a consistent association with increased coronary heart disease risk [odds ratio = 1.18 (95% CI, 1.03-1.34). \"    ///    Genome-wide association analysis identifies TYW3/CRYZ and NDST4 loci associated with circulating resistin levels.. '), ('3898', 'TAP1_PSMB8', '6p21.33 / ', 'TAP1', 'PSMB8', '21085187', '100', 'vitiligo', '', '', '', '', '', '', '', '', 'Within the major histocompatibility complex (MHC), at 6p21.33, association with TAP1-PSMB8 (rs3819721, P=5.2E-06) seems to derive from linkage disequilibrium with major primary signals in the MHC class I and class II regions.. '), ('3899', 'SR_IDS', 't(31) / ', 'SR', 'IDS', '25063959', '100', '', '', '', '', '', '', '', '', '', 'T-tests showed no group difference in mean IDS-SR scores at moment of recurrence (t(31)=-.52, p=.61).     ///    The results are limited by small sample size (n=46) and missing data of weekly IDS-SR assessments. '), ('3900', 'IGF2_H19', '11p15.5 / ', 'IGF2', 'H19', '22395465', '100', '', '', '', '', '', '', '', '', '', 'Allele-specific expression of IGF2 is regulated by DNA methylation at three differentially methylated regions (DMRs) spanning the IGF2/H19 domain on human 11p15.5.     ///    Epigenetic and genetic variation at the IGF2/H19 imprinting control region on 11p15.5 is associated with cerebellum weight.. '), ('3901', 'WNT4_LINC00339', '1p36.12 / 6p22.3 / ', 'WNT4', 'LINC00339', '23472165', '100', '', '', '', '', '', '', '', '', '', 'Three of the SNPs we identify associated at P<5??10(-8) in our combined analysis belong to two loci: LINC00339-WNT4 on 1p36.12 (rs2235529. '), ('3902', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '11396961', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Erythroid progenitors of the patients with t(8;21) AML expressed AML1/ETO.     ///    \" The functions of AML1 in hematopoietic differentiation are repressed by AML1-mutants including the AML1/ETO chimeric protein, which is seen in t(8;21) acute myeloid leukemia. \"    ///    \"It was upregulated by AML1 and downregulated by AML1/ETO in both erythroid and myeloid cells, and increased during erythroid cell differentiation. \"    ///    \"To investigate the effect of AML1/ETO in erythroid cells, we made a tetracycline-regulated AML1/ETO overexpression system in mouse erythroleukemic (MEL) cells. \"    ///    Enforced AML1/ETO repressed the terminal erythroid differentiation. '), ('3903', 'BCR_ABL1', 't(9;22) / t(1;19) / t(4;11) / ', 'BCR', 'ABL1', '24781017', '100', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', '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. '), ('3904', 'NR4A3_EWS', 't(9;22)  / ', 'NR4A3', 'EWS', '22592656', '100', 'chondrosarcoma;sarcoma\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', '', '', ' Approximately 75 % of extraskeletal myxoid chondrosarcoma tumors (EMC) harbor a t(9;22) chromosome translocation generating an EWS/NR4A3 fusion protein that is thought to be instrumental in the tumoral process.     ///    We have performed microarray analyses of these cells and identified several genes overexpressed in the presence of EWS/NR4A3 which are also overexpressed in EMC tumors.     ///    Identification of genes regulated by the EWS/NR4A3 fusion protein in extraskeletal myxoid chondrosarcoma.. '), ('3905', 'RARA_PLZF', 't(11;17)(q23;q21) / t(15;17)  / ', 'RARA', 'PLZF', '8302850', '100', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'PLZF-RAR alpha fusion proteins generated from the variant t(11;17)(q23;q21) translocation in acute promyelocytic leukemia inhibit ligand-dependent transactivation of wild-type retinoic acid receptors..     ///    \"A \"\"dominant negative\"\" effect was observed when PLZF-RAR alpha fusion proteins were cotransfected with vectors expressing RAR alpha and retinoid X receptor alpha (RXR alpha). \"    ///    These abnormal transactivation properties observed in retinoic acid-sensitive myeloid cells strongly implicate the PLZF-RAR alpha fusion proteins in the molecular pathogenesis of APL..     ///    We have now cloned cDNAs encoding PLZF-RAR alpha chimeric proteins and studied their transactivating activities. '), ('3906', 'MYH11_CBFB', 't(8;21) / inv(16) / ', 'MYH11', 'CBFB', '20931398', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'In a large-scale miRNA expression profiling analysis of 435 human miRNAs in 52 acute myeloid leukemia (AML) samples, we found that miR-126 and its minor counterpart in biogenesis, namely, miR-126*, were specifically aberrantly overexpressed in core binding factor (CBF) AMLs including both t(8;21)/AML1-ETO and inv(16)/CBFB-MYH11 samples. '), ('3907', 'RUNX1_ETV6', 't(12;21) (p13;q22) / t(9;22) (q34;q11) / ', 'RUNX1', 'ETV6', '22382891', '100', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'The pediatric patients had higher incidence of hyperdiploidy and t(12;21) (p13;q22)/ETV6-RUNX1 than adults (P<0.0001).     ///    \"In comparison with Western cohorts, the incidence of t(9;22) (q34;q11)/BCR-ABL (14.60%) in B-ALL and HOX11 expression in T-ALL (25.24%) seemed to be much higher in our group, while the incidence of t(12;21) (p13;q22)/ETV6-RUNX1 (15.34%) seemed to be lower in Chinese pediatric patients. \"');
INSERT INTO `ChimerPub_dump` VALUES ('3908', 'P21_P12', '17p11.2 / ', 'P21', 'P12', '20039060', '100', 'dedifferentiated liposarcoma;liposarcoma', '', '', '', '', '', '', '', '', 'The second main cluster was characterised by recurrent overrepresentations of 5p13-p15, 1q21-q24, 1p12-p21, and 17p11.2-p12 and essentially comprised pleomorphic and myxoid/round cell LS. '), ('3909', 'PSORS9_PSORS1', '2p22.3 / ', 'PSORS9', 'PSORS1', '18787534', '100', 'psoriasis', '', '', '', '', '', '', '', '', 'PSORS1-PSORS9 have been confirmed as psoriasis susceptibility loci in independent genetic studies on predominantly Caucasian populations, with psoriasis susceptibility loci (PSORS1, PSORS9) and additional loci at 9q33-34 and 2p22.3-11.2 reported in Han Chinese patients. '), ('3910', 'RAR_PL', 't(15;17)  / ', 'RAR', 'PL', '21364283', '100', 'acute promyelocytic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' Acute promyelocytic leukemia (APL) is characterized by the t(15;17) translocation that generates the fusion protein promyelocytic leukemia-retinoic acid receptor ? (PML-RARA) in nearly all cases. '), ('3911', 'PDL2_PDL1', '9p24.1 / ', 'PDL2', 'PDL1', '27198361', '100', '', '', '', '', '', '', '', '', '', '4P Co-amplifications of PD-L1/PD-L2 genes (9p24.1) and PD-L1 protein expression in NSCLC patients.. '), ('3912', 'COL4A2_COL4A1', '9p21.3 / 1p13.3 / ', 'COL4A2', 'COL4A1', '21966275', '100', '', '', '', '', '', '', '', '', '', '1p13.3:p<10(-17)) as well as three recently discovered loci (COL4A1/COL4A2, ZC3HC1, CYP17A1:p<5??10(-7)). '), ('3913', 'peripherin_RDS', '4p15.2 / ', 'peripherin', 'RDS', '19951596', '100', 'geographic atrophy', '', '', '', '', '', '', '', '', 'Eight candidate genes (STGD4, RCD1, peripherin/RDS, GUCA1A, RIMS1, UNC119, GUCY2D, and AIPL1) and two genetic loci (4p15.2 - 16.3, and 17p13) were excluded to be responsible for the disease by linkage analysis. '), ('3914', 'ETO_AML1', 't(15;17) / t(8;21) / ', 'ETO', 'AML1', '25543697', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'In all patients with a median age of 38.5(15-83) years, acute monoblastic and monocytic leukemia (M5), AML with t(15;17)/PML-RAR? (APL) and AML with t(8;21)/AML1-ETO(M2b) were the most common subtypes, accounting for 29.7%, 20.9% and 14.6% respectively. '), ('3915', 'TERT_CLPTM1L', '5p15.33 / ', 'TERT', 'CLPTM1L', '21725308', '100', 'lung cancer;lung cancer\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'The combined analyses identified six well-replicated SNPs with independent effects and significant lung cancer associations (P < 5.0 ?? 10(-8)) located in TP63 (rs4488809 at 3q28, P = 7.2 ?? 10(-26)), TERT-CLPTM1L (rs465498 and rs2736100 at 5p15.33, P = 1.2 ?? 10(-20) and P = 1.0 ?? 10(-27), respectively), MIPEP-TNFRSF19 (rs753955 at 13q12.12, P = 1.5 ?? 10(-12)) and MTMR3-HORMAD2-LIF (rs17728461 and rs36600 at 22q12.2, P = 1.1 ?? 10(-11) and P = 6.2 ?? 10(-13), respectively). '), ('3916', 'RHOD_FBXL11', '16p11.2 / ', 'RHOD', 'FBXL11', '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. '), ('3917', 'TNXB_FKBPL', '6p21.3 / ', 'TNXB', 'FKBPL', '22694956', '100', 'age-related macular degeneration', '', '', '', '', '', '', '', '', 'Using a replication sample of 1411 advanced AMD cases and 1431 examined controls, we confirmed a novel association between AMD and single-nucleotide polymorphisms on chromosome 6p21.3 at TNXB (tenascin XB)-FKBPL (FK506 binding protein like) [rs12153855/rs9391734. '), ('3918', 'BP5_BP4', '16p11.2 / ', 'BP5', 'BP4', '25143601', '100', '', '', '', '', '', '', '', '', '', ' Deletions and duplications of the recurrent ~600 kb chromosomal BP4-BP5 region of 16p11.2 are associated with a broad variety of neurodevelopmental outcomes including autism spectrum disorder. '), ('3919', 'PTD_MLL', 't(15;17) / ', 'PTD', 'MLL', '17965322', '100', '', '', '', '', '', '', '', '', '', 'In t(15;17)/PML-RARA with FLT3-TKD mutations, in FLT3-LM/TKD double-mutated, and in MLL-PTD/TKD double-mutated cases prognosis was unfavorably influenced by FLT3-TKD mutations. '), ('3920', 'CDKN2B_CDKN2A', '9p21.3 / ', 'CDKN2B', 'CDKN2A', '19887491', '100', 'gastrointestinal stromal tumor\r\r', '', 'Kinase', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'MTAP and/or CDKN2A/CDKN2B at 9p21.3 were deleted in one intermediate-risk (11%) and seven high-risk (70%) GISTs with two cases homozygously codeleted at both loci. '), ('3921', 'NUP98_HOXD13', 't(2;11)(q31;p15) / ', 'NUP98', 'HOXD13', '22855610', '100', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', '', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'To address the mechanism and pathogenic role of apoptosis and BCL2 expression in MDS, we used a mouse model resembling human MDS, in which the fusion protein NUP98-HOXD13 (NHD13) of the chromosomal translocation t(2;11)(q31;p15) is expressed in hematopoietic cells. '), ('3922', 'BCR_ABL1', 'inv(3) / t(9;22) / t(9;22)  / inv(3)  / ', 'BCR', 'ABL1', '25027637', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' In chronic myelogenous leukemia, BCR-ABL1 positive detection of cytogenetic abnormalities in addition to the t(9;22) is thought to portend a poor prognosis. '), ('3923', 'IGF2_H19', 'chr11p15.5 / ', 'IGF2', 'H19', '26400872', '100', 'adrenocortical carcinoma', '', '', '', '', '', '', '', '', 'Gene expression, somatic copy number variation of chr11p15.5, and DNA methylation status of three differential methylated regions of the IGF2/H19 locus including the H19 imprinting control region were integratively analyzed.     ///    Previous studies investigating the IGF2/H19 locus have mainly focused on a single molecular level such as genomic alterations or altered DNA methylation levels and the causal changes underlying IGF2 overexpression are still not fully established. '), ('3924', 'PAX5_AUTS2', 't(7;9) / ', 'PAX5', 'AUTS2', '20723977', '100', '', '', '', '', '', '', '', '', 'Seq', 'PAX5-AUTS2 fusion resulting from t(7;9)(q11.2;p13.2) can now be classified as recurrent in B cell acute lymphoblastic leukemia.. '), ('3925', 'MTAP_CDKN2A', '5p13.2 / 9p21.3 / ', 'MTAP', 'CDKN2A', '21693730', '100', 'melanoma\r\r', '', 'Kinase', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', 'Seq', 'In the supplementary meta-analyses, a locus at 9p21.3 (CDKN2A/MTAP) reached genome-wide statistical significance with CM and had strong epidemiological credibility. '), ('3926', 'INMT-FAM188B_AQP1', '7p14.3 / ', 'INMT-FAM188B', 'AQP1', '23719187', '100', '', '', '', '', '', '', '', '', '', 'rs12669187 and rs1000597 from 7p14.3 (INMT-FAM188B-AQP1). '), ('3927', 'TERT_CLPTM1L', '5p15.33 / ', 'TERT', 'CLPTM1L', '27185198', '100', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'The chromosome 5p15.33 TERT-CLPTM1L region has been associated with susceptibility of multiple cancers via a genome-wide association approach.     ///    Functional evaluation of TERT-CLPTM1L genetic variants associated with susceptibility of papillary thyroid carcinoma..     ///    We analyzed 15 haplotype-tagging single nucleotide polymorphisms (htSNPs) of the TERT-CLPTM1L region in a two stage case-control design. '), ('3928', 'BP5_BP4', '16p11.2 / ', 'BP5', 'BP4', '23054248', '100', '', '', '', '', '', '', '', '', '', ' The recurrent ~600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum disorder (ASD) and related neurodevelopmental disorders. '), ('3929', 'RUNX1T1_RUNX1', 't(8;21)  / t(8;21) / del(4q)  / t(9;22)  / ', 'RUNX1T1', 'RUNX1', '21504717', '100', 'leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Instead, the Ph positive cells acquired further the t(8;21)/RUNX1-RUNX1T1, del(4q) and trisomy 15 chromosomal abnormalities which were resistant to further treatment.     ///    Development of t(8;21) and RUNX1-RUNX1T1 in the Philadelphia-positive clone of a patient with chronic myelogenous leukemia: additional evidence for multiple steps involved in disease progression..     ///    \"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.. \"'), ('3930', 'CDKN2B_CDKN2A', 'del(3) / del(9) / t(9;12) / t(12;19) / t(17;19) / t(10;20)  / 9p24.3 / 10p15.3 / ', 'CDKN2B', 'CDKN2A', '22002331', '100', 'chordoma', '', 'Kinase', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'MUG-Chor1 is karyotypically, <2n>43-47,XX,del(3)(q1?)[11], +7,del(9)(p1?),der(9;15)(q10;q10),-10,+der(12)t(9;12)(p2?;q1?),der (12)t(12;19)(p;p)t(17;19)(q;q),-15,der(17;21)(q10;q10),der(20)t(10;20) (q25?26?;q11?12?),-21,-22[20]/idemx2[5] and displays known, chordoma-typical genetic changes, such as chromosomal gains at T/brachyury locus (6q27), losses at 9p24.3-p13.1 (includes the CDKN2a/CDKN2b locus), 10p15.3-q23.32 (includes the PTEN locus) and losses of 10q25.2 (includes the PDCD4 locus). '), ('3931', 'TERT_CLPTM1L', '5p15.33 / ', 'TERT', 'CLPTM1L', '23908149', '100', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', ' Recent genome-wide association studies (GWAS) have reported multiple genetic variations at 5p15.33 (TERT-CLPTM1L) associated with risk of lung cancer.     ///    This study aimed to explore the function-validated and potentially functional variations in TERT-CLPTM1L locus conferring susceptibility to lung cancer.     ///    \"These findings indicated that the function-validated and potentially functional variations in TERT-CLPTM1L locus, modified by smoking, may play a substantial role in the susceptibility to lung cancer.. \"    ///    Genetic variations in TERT-CLPTM1L locus are associated with risk of lung cancer in Chinese population.. '), ('3932', 'TMEM16F_NELL2', '11p15.1 / ', 'TMEM16F', 'NELL2', '15067359', '100', 'intestinal cancer', '', '', '', '', '', '', '', '', 'NELL1-TMEM16E locus at human chromosome 11p15.1-p14.3 and NELL2-TMEM16F locus at human chromosome 12q12 were paralogous regions within the human genome. '), ('3933', 'MALT1_API2', 't(11;18) / ', 'MALT1', 'API2', '21890816', '100', 'MALT lymphoma;B cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'A logistic regression analysis showed that absence of H pylori, submucosal invasion determined by endoscopic ultrasonography and t(11;18)/API2-MALT1 were independent predictors of resistance to H pylori eradication. '), ('3934', 'RARA_PML', 't(15;17) / ', 'RARA', 'PML', '17965322', '100', '', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'In t(15;17)/PML-RARA with FLT3-TKD mutations, in FLT3-LM/TKD double-mutated, and in MLL-PTD/TKD double-mutated cases prognosis was unfavorably influenced by FLT3-TKD mutations. '), ('3935', 'FGFR1_FOP', 't(6;8)  / t(6;8) (q27;p12) / ', 'FGFR1', 'FOP', '11689702', '100', 'myeloproliferative disorder\r\r', '', 'Kinase', '', '', '', '', '', '', '8p12 stem cell myeloproliferative disorder: the FOP-fibroblast growth factor receptor 1 fusion protein of the t(6;8) translocation induces cell survival mediated by mitogen-activated protein kinase and phosphatidylinositol 3-kinase/Akt/mTOR pathways..     ///    \" The FOP-fibroblast growth factor receptor 1 (FGFR1) fusion protein is expressed as a consequence of a t(6;8) (q27;p12) translocation associated with a stem cell myeloproliferative disorder with lymphoma, myeloid hyperplasia and eosinophilia. \"    ///    \"Furthermore, we show that FOP-FGFR1 phosphorylates phosphatidylinositol 3 (PI3)-kinase and AKT and that specific inhibitors of PI3-kinase impair its ability to promote cell survival. \"    ///    \"Finally, FOP-FGFR1 protects cells from apoptosis by survival signals including BCL2 overexpression and inactivation of caspase-9 activity. \"    ///    \"Phosphorylation of STAT1 and of STAT3, but not STAT5, is observed in cells expressing FOP-FGFR1. \"    ///    This survival effect is dependent upon the constitutive tyrosine phosphorylation of FOP-FGFR1.     ///    These results indicate that translation control is important to mediate the cell survival effect induced by FOP-FGFR1.     ///    These results demonstrate that FOP-FGFR1 is capable of protecting cells from apoptosis by using the same effectors as the wild-type FGFR1.     ///    The survival function of FOP-FGFR1 is abrogated by mutation of the phospholipase C gamma binding site.     ///    Elucidation of signaling events downstream of FOP-FGFR1 constitutive activation provides insight into the mechanism of leukemogenesis mediated by this oncogenic fusion protein.. '), ('3936', 'HLF_E2A', 't(17;19) / t(17;19)  / ', 'HLF', 'E2A', '22743623', '100', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', '', '', 'These findings suggest that E2A-HLF sensitizes t(17;19)-ALL to the GVL effect by upregulating death receptors for TRAIL..     ///    \"Introduction of E2A-HLF into non-t(17;19)-ALL cell line upregulated DR4 and DR5 expression, and sensitized to proapoptotic activity of recombinant soluble TRAIL. \"    ///    E2A-HLF derived from t(17;19) blocks apoptosis induced by the intrinsic mitochondrial pathway and has a central role in leukemogenesis and chemoresistance.     ///    Oncogenic fusion E2A-HLF sensitizes t(17;19)-positive acute lymphoblastic leukemia to TRAIL-mediated apoptosis by upregulating the expression of death receptors..     ///    \"E2A-HLF induced gene expression of DR4/DR5, which was dependent on the DNA-binding and transactivation activities of E2A-HLF through the 5\' upstream region of the start site at least in the DR4 gene. \"'), ('3937', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '11301322', '100', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', ' The t(15;17) translocation, found in 95% of acute promyelocytic leukemia, encodes a promyelocytic leukemia (PML)-retinoic acid receptor alpha (RARalpha) fusion protein. '), ('3938', 'RUNX1T1_RUNX1', 't(8;21)(q22;q22) / ', 'RUNX1T1', 'RUNX1', '19167615', '100', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Development of AML with t(8;21)(q22;q22) and RUNX1-RUNX1T1 fusion following Philadelphia-negative clonal evolution during treatment of CML with Imatinib.. '), ('3939', 'SGSM3_MKL1', '8p11.23 / ', 'SGSM3', 'MKL1', '25342443', '100', 'breast cancer\r\r', '', '', '', '', '', '', '', '', 'We identify genome-wide significant (P<5 ?? 10(-8)) loci for dense area (AREG, ESR1, ZNF365, LSP1/TNNT3, IGF1, TMEM184B and SGSM3/MKL1), non-dense area (8p11.23) and percent density (PRDM6, 8p11.23 and TMEM184B). '), ('3940', 'RUNX1_ETO', 't(8;21)  / ', 'RUNX1', 'ETO', '20023702', '100', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'We found that OGG1 expression was significantly downregulated by the RUNX1-ETO fusion protein product of the t(8;21) chromosome translocation in normal haematopoietic progenitor cells and in patients with acute myeloid leukaemia (AML). '), ('3941', 'TSC2_PKD1', '16p13.3 / ', 'TSC2', 'PKD1', '20663367', '100', 'tuberous sclerosis', '', '', '', 'Tumor_suppressor', '', '', '', '', ' With the advancement of molecular genetics, the deletion of the TSC2/PKD1 gene at chromosome 16p13.3 has been discovered to be responsible for the tuberous sclerosis complex sharing some of the clinical manifestations of autosomal dominant adult polycystic kidney disease such as multiple renal cysts and intracranial aneurysms. '), ('3942', 'RARA_PL', 't(15;17)  / ', 'RARA', 'PL', '18504460', '100', '', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', ' The PML gene is involved in the t(15;17) translocation of acute promyelocytic leukaemia (APL), which generates the oncogenic fusion protein PML (promyelocytic leukaemia protein)-retinoic acid receptor alpha. '), ('3943', 'ETO_KIT', 't(8;21)  / ', 'ETO', 'KIT', '27144550', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Celastrol Induces Cell Apoptosis and Inhibits the Expression of the AML1-ETO/C-KIT Oncoprotein in t(8;21) Leukemia.. '), ('3944', 'NUP98_HOXA9', 't(9;22)(q34;q22) / t(7;11)(p15;p15) / ', 'NUP98', 'HOXA9', '12032333', '100', 'acute myeloid leukemia;chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Progression of CML to acute leukemia (blast crisis) in humans has been associated with acquisition of secondary chromosomal translocations, including the t(7;11)(p15;p15) resulting in the NUP98/HOXA9 fusion protein.     ///    We demonstrate that BCR/ABL cooperates with NUP98/HOXA9 to cause blast crisis in a murine model.     ///    \"These experiments document cooperative effects between constitutively activated tyrosine kinases, which confer proliferative and survival properties to hematopoietic cells, with mutations that impair differentiation, such as the NUP98/HOXA9, giving rise to the acute myeloid leukemia (AML) phenotype. \"    ///    \"The phenotype depends both on expression of BCR/ABL and NUP98/HOXA9, but tumors retain sensitivity to the ABL inhibitor STI571 in vitro and in vivo. \"    ///    A murine model of CML blast crisis induced by cooperation between BCR/ABL and NUP98/HOXA9.. '), ('3945', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '20670478', '100', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'From 2004, 39 patients with confirmed APL either by t(15;17) or PML/RARA were treated by the PETHEMA LPA 99 trial. '), ('3946', 'MSH5_BAT3', '5p15.33 / 6p21.33 / ', 'MSH5', 'BAT3', '18978787', '100', 'lung cancer\r\r', '', '', '', '', '', '', '', '', 'Pooling data with two other GWA studies (5,095 cases, 5,200 controls) and with replication in an additional 2,484 cases and 3,036 controls, we identified two newly associated risk loci mapping to 6p21.33 (rs3117582, BAT3-MSH5. '), ('3947', 'IL4_IL13', '16p12.1 / ', 'IL4', 'IL13', '18625055', '100', 'rheumatoid arthritis;arthritis\r\r', '', '', '', '', '', '', '', '', 'A total of 965 Caucasian patients with RA (cases) and 988 healthy control individuals (controls) were genotyped for five variants in the IL-4/IL-13 gene cluster (5q31.1) and two functional variants IL-4Ralpha (16p12.1).     ///    These results indicate that common variants of the IL-4/IL-13 pathway do not significantly contribute to RA susceptibility and radiological severity.. '), ('3948', 'MLLT4_MLL', 't(5;11) / t(7;11)(p15;p15) / t(6;11)(q27;q23) / t(6;9)(p22;q34) / ', 'MLLT4', 'MLL', '23630019', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', 'Seq', '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. '), ('3949', 'CYP1A2_CYP1A1', '8p11.23 / ', 'CYP1A2', 'CYP1A1', '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. '), ('3950', 'ETO_AML1', 't(8;21)(q22;q22) / t(8;21) / t(8;21)  / ', 'ETO', 'AML1', '19100510', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' We report on two patients with complicons resulting in duplication der(21)t(8;21)(q22;q22), triplication in the form of isochromosome of der(21)t(8;21), and four copies of ETO-AML1 fusion.     ///    \"Due to the rarity of these cases, literature search of other reported cases of complicons may be taken as evidence that duplication and triplication of ETO-AML1 may be a poor prognostic indicator, regardless of whether it is present at diagnosis or relapse.. \"'), ('3951', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '21364283', '100', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', ' Acute promyelocytic leukemia (APL) is characterized by the t(15;17) translocation that generates the fusion protein promyelocytic leukemia-retinoic acid receptor ? (PML-RARA) in nearly all cases.     ///    \"To address this discrepancy, we have generated a system whereby PML-RARA expression is somatically acquired from the mouse Pml locus in the context of Pml haploinsufficiency. \"    ///    Multiple prior mouse models of APL constitutively express PML-RARA from a variety of non-Pml loci.     ///    PML-RARA can increase hematopoietic  self-renewal without causing a  myeloproliferative disease in mice..     ///    \"Thus, at physiologic doses, PML-RARA primarily acts to increase hematopoietic progenitor self-renewal, expanding a population of cells that are susceptible to acquiring secondary mutations that cause progression to leukemia. \"    ///    We found that physiologic PML-RARA expression was sufficient to direct a hematopoietic progenitor self-renewal program in vitro and in vivo. '), ('3952', 'NPM_MLF1', 't(3;5)  / ', 'NPM', 'MLF1', '18090933', '100', 'myelodysplastic syndrome', '', '', '', '', '', '', '', '', 'Early acute myeloblastic leukemia treatment for childhood myelodysplastic syndrome with t(3;5) (NPM/MLF1)..     ///    MDS with t(3;5) (NPM/MLF1) is an unusual subtype without a well-defined clinical and prognostic pattern. '), ('3953', 'MUC4_MUC20', 'chr3q29  / chr5p15.3 / chr6p21.3 / chr11p12- / ', 'MUC4', 'MUC20', '26417704', '100', 'cystic fibrosis\r\r', '', '', '', '', '', '', '', '', 'Regions on chr3q29 (MUC4/MUC20. '), ('3954', 'NPM_ALK', 't(2;5)(p23;q35) / ', 'NPM', 'ALK', '11704868', '100', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' Anaplastic large cell lymphomas (ALCLs) are frequently associated with the t(2;5)(p23;q35) translocation, leading to the expression of NPM-ALK, a fusion protein linking nucleophosmin and anaplastic lymphoma kinase, a receptor tyrosine kinase.     ///    \"As in ALCLs, NPM-ALK was expressed as a constitutively kinase-active 80 kDa protein, and could be detected by immunocytochemistry in nucleoli, nuclei and cytoplasm. \"    ///    \"In ALCLs, dimerization of NPM-ALK leads to constitutive autophosphorylation and activation of the kinase, necessary for NPM-ALK oncogenicity. \"    ///    \"To investigate whether NPM-ALK, like other oncogenic tyrosine kinases, can inhibit drug-induced apoptosis, we permanently transfected NPM-ALK into Jurkat T-cells. \"    ///    These results suggest that the NPM-ALK antiapoptotic and mitogenic pathways are distinct..     ///    \"Expression of the oncogenic NPM-ALK chimeric protein in human lymphoid T-cells inhibits drug-induced, but not Fas-induced apoptosis.. \"'), ('3955', 'MLL_ALL1', 't(11;17)(q23;q25) / ', 'MLL', 'ALL1', '8400276', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Involvement of the MLL/ALL-1 gene associated with multiple point mutations of the N-ras gene in acute myeloid leukemia with t(11;17)(q23;q25). '), ('3956', 'BCR_ABL1', 't(9;22)  / ', 'BCR', 'ABL1', '24349524', '100', 'acute lymphoblastic leukemia;chronic myeloid leukemia;myeloid leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Chronic myeloid leukemia (CML) is a cytogenetic disorder resulting from formation of the Philadelphia chromosome (Ph), that is, the t(9;22) chromosomal translocation and the formation of the BCR-ABL1 fusion protein.     ///    Inhibition of PI3K/mTOR overcomes nilotinib resistance in BCR-ABL1 positive leukemia cells through translational down-regulation of MDM2..     ///    \"Since there was no mutation in the tyrosine kinase domain of BCR-ABL1 in cell line SUP-B15, the cells were not generally unresponsive to TKI, as evidenced by dephosphorylation of the BCR-ABL1 downstream targets, Crk-like protein (CrkL) and Grb-associated binder-2 (GAB2). \"    ///    These findings highlight MDM2 as a potential therapeutic target to increase TKI-mediated apoptosis and imply that the combination of PI3K/mTOR inhibitor and TKI might form a novel strategy to combat TKI-resistant BCR-ABL1 positive leukemia. '), ('3957', 'RUNX1_ETO', 't(8;21) / ', 'RUNX1', 'ETO', '15156180', '100', 'myeloproliferative disorder;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'RUNX1-ETO) fusion protein, which is found in t(8;21)+ AML.     ///    \"The direct effects of AML1-ETO on human and murine HSCs, and the potentially cooperating events that may contribute to its leukemogenic properties, are discussed.. \"    ///    Effects of the leukemia-associated AML1-ETO protein on hematopoietic stem and progenitor cells..     ///    \"In this review, we focus on the AML1-ETO (a.k.a. \"    ///    \"Expression of AML1-ETO in human hematopoietic stem cells (HSCs) preferentially enhances their maintenance, as opposed to their differentiation. \"'), ('3958', 'LAG3_CD27', '12p13.3 / 3p21.31 / ', 'LAG3', 'CD27', '25006012', '100', 'psoriasis\r\r', '', '', '', '', '', '', '', '', '2.30 ?? 10(-20)?P?2.41 ?? 10(-7)) and identified three new susceptibility loci: 4q24 (NFKB1) at rs1020760 (P=2.19 ?? 10(-8)), 12p13.3 (CD27-LAG3) at rs758739 (P=4.08 ?? 10(-8)) and 17q12 (IKZF3) at rs10852936 (P=1.96 ?? 10(-8)). '), ('3959', 'NUP98_LEDGF', 't(9;11)  / t(9;11)(p21;p15) / t(9;22) / ', 'NUP98', 'LEDGF', '15982735', '100', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'We describe here a case of CML who presented de novo in transformation with a t(9;11)(p21;p15) and NUP98-LEDGF fusion in addition to the t(9;22).     ///    NUP98-LEDGF fusion and t(9;11) in transformed chronic myeloid leukemia..     ///    This is the first description of NUP98-LEDGF in CML and strengthens the association between disease progression in and NUP98 abnormalities.. '), ('3960', 'BP5_BP4', '16p11.2 / ', 'BP5', 'BP4', '26620891', '100', '', '', '', '', '', '', '', '', '', ' The 600??b BP4-BP5 copy number variants (CNVs) at the 16p11.2 locus have been associated with a range of neurodevelopmental conditions including autism spectrum disorders and schizophrenia. '), ('3961', 'RARA_PLZF', 't(15;17) / t(15;17)  / t(11;17)  / t(11;17) / ', 'RARA', 'PLZF', '11703323', '100', '', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', ' Histone deacetylase (HDAC) appears to play an important role in the pathogenesis of acute promyelocytic leukaemia (APL) as it is recruited by both PML-RARalpha and PLZF/RAR alpha in leukaemic cells with t(15;17) and t(11;17) respectively. '), ('3962', 'NPM_ALK', 't(2;5)(p23;q35) / ', 'NPM', 'ALK', '26220634', '100', 'anaplastic large cell lymphoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' The t(2;5)(p23;q35) chromosomal translocation results in the expression of the fusion protein NPM/ALK that when expressed in T-lymphocytes gives rise to anaplastic large cell lymphomas (ALCL).     ///    \"Neurolenin B specifically decreased pro-carcinogenic NPM/ALK expression in ALK+ ALCL cells and, via the inhibition of NF-kB signalling, attenuated tumour intra/extravasation into the lymphatics. \"    ///    ex Cass was shown to inhibit NPM/ALK expression.     ///    ex Cass inhibits NPM/ALK-driven cell expansion and NF-?B-driven tumour intravasation..     ///    \"In vitro treatment of ALCL by neurolenin B suppressed NPM/ALK, JunB and PDGF-R? expression, inhibited the growth of ALCL cells late in M phase, and induced apoptosis via caspase 3 without compromising mitochondrial activity (as a measure of general exogenic toxicity). \"'), ('3963', 'NUP98_HOXA9', 't(7;11)(p15;p15) / t(7;11)  / ', 'NUP98', 'HOXA9', '19225539', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', ' Acute myeloid leukemia (AML) with t(7;11)(p15;p15), which results in a NUP98-HOXA9 fusion, is a distinct entity, but this subtype has not been characterized in detail.     ///    \"The NUP98-HOXA9 fusion was strongly associated with KRAS and WT1 mutations (P=0.015 and P=0.0018, respectively). \"    ///    \"AML with NUP98-HOXA9 fusion therefore appears to have a distinct clinical and biological profile, and should be regarded as a poor prognostic group.. \"'), ('3964', 'HBG1_HBB', 't(3;12) / ', 'HBG1', 'HBB', '7795240', '100', 'leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In this sorted CD34+ population, we detected the presence of a marker chromosome, der(12)t(3;12), previously identified in bone marrow cells at diagnosis and an expression pattern superimposable to that of the JCML colonies, consistently displaying a high gamma-globin:beta-globin mRNA ratio. '), ('3965', 'SRS_BWS', '11p15.5 / ', 'SRS', 'BWS', '26508573', '100', 'Silver-Russell syndrome', '', '', '', '', '', '', '', '', ' Beckwith-Wiedemann and Silver-Russell syndromes (BWS/SRS) are two imprinting disorders (IDs) associated with disturbances of the 11p15.5 chromosomal region. '), ('3966', 'CDKN2B_CDKN2A', '5p15.33 / 9p21.3 / ', 'CDKN2B', 'CDKN2A', '20847058', '100', '', '', 'Kinase', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', ' Genome-wide association studies have recently identified single-nucleotide polymorphisms (SNP) in five loci at 5p15.33 (rs2736100, TERT), 8q24.21 (rs4295627, CCDC26), 9p21.3 (rs4977756, CDKN2A/CDKN2B), 20q13.33 (rs6010620, RTEL1), and 11q23.3 (rs498872, PHLDB1) to be associated with glioma risk. '), ('3967', 'CDKN2B_CDKN2A', '9p21.3 / ', 'CDKN2B', 'CDKN2A', '20364137', '100', '', '', 'Kinase', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'OR = 1.28, P = 1.3 x 10(-12)) and CDKN2A-CDKN2B (9p21.3. '), ('3968', 'MLL_ELL', 't(11;19) / ', 'MLL', 'ELL', '21501132', '100', 'myeloid leukemia;sarcoma\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Myeloid sarcoma with t(11;19)(q23;p13.3) (MLL-ELL) in the uterine cervix.. '), ('3969', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '22064348', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'AML1/ETO and POU4F1 synergy drives B-lymphoid gene expression typical of t(8;21) acute myeloid leukemia.. '), ('3970', 'REL_BCL11A', '2p16.1 / ', 'REL', 'BCL11A', '18752589', '100', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Among the several recurrent CN changes identified, 8q24.13-q24.1-gain (MYC), 8p-loss (TNFRSF10A/B, also known as TRAIL1/2) and 2p16.1-p14-gain (REL/BCL11A) appeared frequently represented. '), ('3971', 'MAPK3_MAPK1', 't(8;9)(p22;24) / ', 'MAPK3', 'MAPK1', '23701125', '100', '', '', 'Kinase', '', '', '', 'Transcription_Factor', '', '', 'Implication of MAPK1/MAPK3 signalling pathway in t(8;9)(p22;24)/PCM1-JAK2 myelodysplastic/myeloproliferative neoplasms.. '), ('3972', 'RUNX1T1_RUNX1', 't(8;13;21)(q22;q33;q22) / t(8;21)  / ', 'RUNX1T1', 'RUNX1', '26138995', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'A Novel Three-Way Variant t(8;13;21)(q22;q33;q22) in a Child with Acute Myeloid Leukemia with RUNX1/RUNX1T1 : The Contribution of Molecular Approaches for Revealing t(8;21) Variants.. '), ('3973', 'TCF3_PBX1', 'p11-13;q11 / ', 'TCF3', 'PBX1', '26237075', '100', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', '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).     ///    \"conversely, TCF3-PBX1 and HeH were associated with hypomethylation. \"    ///    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. '), ('3974', 'TNFRSF19_MIPEP', '5p15.33 / ', 'TNFRSF19', 'MIPEP', '21725308', '100', 'lung cancer;lung cancer\r\r', '', '', '', '', '', '', '', '', 'The combined analyses identified six well-replicated SNPs with independent effects and significant lung cancer associations (P < 5.0 ?? 10(-8)) located in TP63 (rs4488809 at 3q28, P = 7.2 ?? 10(-26)), TERT-CLPTM1L (rs465498 and rs2736100 at 5p15.33, P = 1.2 ?? 10(-20) and P = 1.0 ?? 10(-27), respectively), MIPEP-TNFRSF19 (rs753955 at 13q12.12, P = 1.5 ?? 10(-12)) and MTMR3-HORMAD2-LIF (rs17728461 and rs36600 at 22q12.2, P = 1.1 ?? 10(-11) and P = 6.2 ?? 10(-13), respectively). '), ('3975', 'TMEM16E_NELL1', '11p15.1 / ', 'TMEM16E', 'NELL1', '15067359', '100', 'intestinal cancer', '', '', '', '', '', '', '', '', 'NELL1-TMEM16E locus at human chromosome 11p15.1-p14.3 and NELL2-TMEM16F locus at human chromosome 12q12 were paralogous regions within the human genome. '), ('3976', 'EWSR1_DDIT3', 't(12;16)(q13;p11) / t(12;22)(q13;q12) / ', 'EWSR1', 'DDIT3', '17586092', '100', 'liposarcoma;sarcoma\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', '', 'We aimed to study the usefulness of trabectedin in the treatment of patients with myxoid liposarcomas, a subtype of liposarcoma that is associated with specific chromosomal translocations t(12;16)(q13;p11) or t(12;22)(q13;q12) that result in the formation of DDIT3-FUS or DDIT3-EWSR1 fusion proteins. '), ('3977', 'MIC1_GDF15', '9p21.3 / ', 'MIC1', 'GDF15', '22505696', '100', 'deep vein thrombosis;rheumatoid arthritis', '', '', '', '', '', '', '', '', 'ATM were associated with polymorphism of the GDF15/MIC-1 G allele (OR 2.21, 95% CI 1.17-4.18), and with CC genotype of the 9p21.3 locus (rs1333049.     ///    \"The distribution of genotypes of GDF15/MIC-1 differed significantly between patients with RA and controls (chi-squared = 6.40, 2 df, p = 0.041). \"    ///    \"Stroke/TIA in women was associated with GDF15/MIC-1 GG genotype (OR 3.75, 95% CI 1.06-13.33), while stroke/TIA in men was associated with CD40 homozygous major alleles (OR 6.48, 95% CI 1.31-32.0 and OR 2.78, 95% CI 0.78-9.91, respectively). \"    ///    \"DVT/PE was associated with polymorphism in the GDF15/MIC-1 gene (rs1058587) minor allele (OR 3.53, 95% CI 1.30-9.58). \"    ///    \"The GDF15/MIC-1 gene polymorphism was also associated with RA per se, suggesting a common etiology for RA and ATM.. \"'), ('3978', 'ETO_AML1', 't(8;21)  / inv(16)  / ', 'ETO', 'AML1', '22641217', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Thus, the targeting and suppression of CTSG by AML1-ETO in t(8;21) AML may provide a mechanism for leukemia cells to escape from the intracellular surveillance system by preventing degradation of foreign proteins..     ///    We report here that CTSG is directly targeted and suppressed by AML1-ETO in t(8;21) acute myeloid leukemia (AML).     ///    \"AML1-ETO targets and suppresses cathepsin G, a serine protease, which is able to degrade AML1-ETO in t(8;21) acute myeloid leukemia.. \"    ///    \"Further evidence shows that CTSG, as a hematopoietic serine protease, can degrade AML1-ETO both in vitro and in vivo. \"    ///    Luciferase assays demonstrate that the CTSG promoter is strongly transactivated by AML1 and the AML1-dependent transactivation is suppressed by AML1-ETO. '), ('3979', 'RUNX1T1_RUNX1', 't(15;17) / t(8;21) / inv (16) / t(16;16) / ', 'RUNX1T1', 'RUNX1', '22207733', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '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. '), ('3980', 'TIF2_MOZ', 'inv(8)(p11q13) / ', 'TIF2', 'MOZ', '12010678', '100', '', '', '', '', '', '', '', '', '', 'A further case of acute myeloid leukaemia with inv(8)(p11q13) and MOZ-TIF2 fusion.. '), ('3981', 'TEL_FGFR3', 't(4;14)  / t(4;12)(p16;p13) / ', 'TEL', 'FGFR3', '19223461', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia;multiple myeloma\r\r', '', 'Kinase', '', '', '', '', '', '', 'These include t(4;14) multiple myeloma associated with ectopic expression of FGFR3 and t(4;12)(p16;p13) acute myeloid leukemia associated with expression of a constitutively activated fusion tyrosine kinase, TEL-FGFR3.     ///    \"Furthermore, in a murine bone marrow transplant assay, genetic deficiency in RSK2 resulted in a significantly delayed and attenuated myeloproliferative syndrome induced by TEL-FGFR3 as compared with wild-type cells, suggesting a critical role of RSK2 in FGFR3-induced hematopoietic transformation. \"'), ('3982', 'RAR_PLZF', 't(11;17)  / t(15;17)  / ', 'RAR', 'PLZF', '23898169', '100', 'acute promyelocytic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The variant t(11;17) translocation produces two fusion proteins, promyelocytic leukemia zinc finger-retinoic acid receptor ? (PLZF-RAR?) and RAR?-PLZF, both of which participate in leukemia development. '), ('3983', 'ETO_AML1', 't(8;21)  / inv(16)  / t(8;21) / inv(16) / ', 'ETO', 'AML1', '24055056', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The t(8;21) and inv(16) chromosomal aberrations generate the oncoproteins AML1-ETO (A-E) and CBF?-SMMHC (C-S). '), ('3984', 'TEL_AML1', 't(12;21) / del(6q)  / ', 'TEL', 'AML1', '11699220', '100', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' We prospectively examined the frequency of the t(12;21)TEL-AML1 fusion in 504 children with newly diagnosed standard risk ALL using RT-PCR assays.     ///    This prospective study significantly expands the knowledge gained from previous studies regarding the prognostic significance of t(12;21)TEL-AML1 fusion in pediatric ALL..     ///    Expression of TEL-AML1 fusion transcripts and response to induction therapy in standard risk acute lymphoblastic leukemia.. '), ('3985', 'TCF3_PBX1', 't(12;21)  / t(1;19)  / ', 'TCF3', 'PBX1', '21152005', '100', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', '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. '), ('3986', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '26546158', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Genome-wide studies identify a novel interplay between AML1 and AML1/ETO in t(8;21) acute myeloid leukemia..     ///    \"However, the genome-wide interplay between AML1/ETO and wild-type AML1 remains elusive in the leukemogenesis of t(8;21) AML. \"    ///     The AML1/ETO fusion protein is essential to the development of t(8;21) acute myeloid leukemia (AML) and is well recognized for its dominant-negative effect on the coexisting wild-type protein AML1.     ///    \"Through chromatin immunoprecipitation sequencing and computational analysis, followed by a series of experimental validations, we report here that wild-type AML1 is able to orchestrate the expression of AML1/ETO targets regardless of being activated or repressed. \"    ///    this is achieved via forming a complex with AML1/ETO and via recruiting the cofactor AP-1 on chromatin.     ///    \"On physical interaction, AML1/ETO can form a complex with wild-type AML1 on chromatin, and the runt homology domain of both proteins are responsible for their interactions. \"    ///    \"More importantly, the relative binding signals of AML1 and AML1/ETO on chromatin determine which genes are repressed or activated by AML1/ETO. \"    ///    Further analysis of coregulators indicates that AML1/ETO transactivates gene expression through recruiting AP-1 to the AML1/ETO-AML1 complex.     ///    \"On chromatin occupancy, AML1/ETO and wild-type AML1 largely overlap and preferentially bind to adjacent and distinct short and long AML1 motifs on the colocalized regions, respectively. \"'), ('3987', 'ETO_AML1', 't(8;21)  / t(8;21) / ', 'ETO', 'AML1', '22740448', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' Chromosome translocation 8q22;21q22 [t(8;21)] is commonly associated with acute myeloid leukemia (AML), and the resulting AML1-ETO fusion proteins are involved in the pathogenesis of AML. '), ('3988', 'RARA_PML', 't(15;17) / ', 'RARA', 'PML', '25110071', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'P=0.001), followed by t(15;17)/PML-RARA (11.0%, P=0.004), and FLT3-ITD (8.5%, P<0.001).     ///    \"In the total cohort and subgroups with high WT1mut incidences (biallelic CEBPAmut, PML-RARA), WT1mut had no impact on prognosis. \"'), ('3989', 'BP5_BP4', '16p11.2 / ', 'BP5', 'BP4', '25064419', '100', '', '', '', '', '', '', '', '', '', ' Deletion of the recurrent ~600 kb BP4-BP5 chromosomal region 16p11.2 has been associated with a wide range of neurodevelopmental outcomes. '), ('3990', 'GTL2_DLK1', 'del(14q)  / del(14q) / ', 'GTL2', 'DLK1', '19786834', '100', 'leukemia;lymphoma\r\r', '', '', '', '', '', '', '', '', ' Leukemias/lymphomas with IGH-involving del(14q)(1) commonly lose the DLK1-GTL2 imprinted domain that comprises several paternally and maternally expressed genes, including a cluster of microRNAs.     ///    Methylation analysis of the imprinted DLK1-GTL2 domain supports the random parental origin of the IGH-involving del(14q) in B-cell malignancies..     ///    The designed allele-specific methylation study of the DLK1/GTL2 intergenic differentially methylated region allowed us to determine the parental origin of del(14q/IGH) in 9/20 analyzed cases. '), ('3991', 'WDFY4_LRRC18', '16p11.2 / ', 'WDFY4', 'LRRC18', '23249952', '100', 'systemic lupus erythematosus\r\r', '', '', '', '', '', '', '', '', 'The disease associations of the SNPs in ETS1, IKZF1, LRRC18-WDFY4, RASGRP3, SLC15A4, TNIP1 and 16p11.2 were replicated, whereas no solid evidence of association was observed for the 7q11.23 locus in the Caucasian cohorts. '), ('3992', 'CDKN2B_CDKN2A', '5p15.33 / 9p21.3 / 7p11.2 / ', 'CDKN2B', 'CDKN2A', '21825990', '100', '', '', 'Kinase', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs2736100, TERT), 8q24.21 (rs4295627, CCDC26), 9p21.3 (rs4977756, CDKN2A-CDKN2B), 20q13.33 (rs6010620, RTEL1), and 11q23.3 (rs498872, PHLDB1), and two loci at 7p11.2 (rs11979158 and rs2252586, EGFR). '), ('3993', 'NUP214_DEK', 't(6;9)(p22;q34) / t(6;9) / ', 'NUP214', 'DEK', '24441146', '100', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', '', '', '', '', '', '', 'KB', '', 'In conclusion, t(6;9)/DEK-NUP214 represents a unique subtype of acute myeloid leukemia with a high risk of relapse, high frequency of FLT3-ITD, and a specific gene expression signature.     ///    \"The t(6;9)/DEK-NUP214 was associated with relatively late onset (median age 10.4 years), male predominance (sex ratio 1.7), French-American-British M2 classification (54%), myelodysplasia (100%), and FLT3-ITD (42%). \"'), ('3994', 'IGF2_H19', '11p15.5 / ', 'IGF2', 'H19', '25884481', '100', 'lung cancer;lung cancer\r\r', '', '', '', '', '', '', '', '', 'While a complete account of the role played by the 11p15.5 imprinted cluster in lung cancer is beyond the scope of this review, we will focus on the role of the non-coding RNAs processed from the H19-IGF2 loci.     ///    The non-coding RNAs of the H19-IGF2 imprinted loci: a focus on biological roles and therapeutic potential in Lung Cancer.. '), ('3995', 'PDGFRB_TEL', 't(5;12)  / t(5;12) / ', 'PDGFRB', 'TEL', '9558390', '100', 'leukemia\r\r', '', 'Kinase', '', '', 'Receptor', '', '', '', ' The t(5;12) translocation identified in patients with chronic myelomonocytic leukemia (CMML) encodes a TEL/platelet-derived growth factor receptor beta (PDGFRbeta) fusion protein.     ///    Myc is essential for transformation by TEL/platelet-derived growth factor receptor beta (PDGFRbeta).. '), ('3996', 'RUNX1_ETV6', 't(12;21)  / ', 'RUNX1', 'ETV6', '23722552', '100', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Focusing on samples carrying the t(12;21) ETV6-RUNX1 fusion, we identified 119 subtype-specific high-confidence marker CpG-loci. '), ('3997', 'RARA_PML', 't(15,17)  /  / ', 'RARA', 'PML', '14976209', '100', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', ' Acute promyelocytic leukemia (APL) cases expressing the t(15,17) product, promyelocytic leukemia (PML)/retinoic acid receptor alpha (RARalpha), have clinical remissions through leukemic cell differentiation after all-trans-retinoic acid (RA) treatment. '), ('3998', 'ETO_AML1', 't(8;21)(q22;q22) / ', 'ETO', 'AML1', '15477599', '100', 'acute myeloid leukemia;myeloproliferative disorder;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The t(8;21)(q22;q22) translocation, present in 10-15% of acute myeloid leukemia (AML) cases, generates the AML1/ETO fusion protein.     ///    \"Whereas germ-line expression of AML1/ETO from the AML1 promoter results in embryonic lethality, heterozygous Sca1(+/AML1-ETO ires EGFP) (abbreviated Sca(+/AE)) mutant mice are born in Mendelian ratios with no apparent abnormalities in growth or fertility. \"    ///    \"To study the role of AML1/ETO in the pathogenesis of AML, we used the Ly6A locus that encodes the well characterized hematopoietic stem cell marker, Sca1, to target expression of AML1/ETO to the hematopoietic stem cell compartment in mice. \"    ///    This model should provide a useful platform to analyze the effect of AML1/ETO on hematopoiesis and its potential cooperation with other mutations in the pathogenesis of leukemia..     ///    Stem cell expression of the AML1/ETO fusion protein induces a myeloproliferative disorder in mice.. '), ('3999', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '16759701', '100', '', '', '', '', '', '', '', '', '', 'May the correlation between Kit-D816 mutation and AML1-ETO level change the use of prognostic factors in t(8;21) AML?. '), ('4000', 'RARA_PML', 't(15;17) / ', 'RARA', 'PML', '9756909', '100', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', ' Acute promyelocytic leukemia arises following a reciprocal chromosome translocation t(15;17), which generates PML-retinoic acid receptor alpha fusion proteins (PML-RARalpha). '), ('4001', 'MEF2BNB_MEF2B', '19p13.11 / ', 'MEF2BNB', 'MEF2B', '26859814', '100', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'Additional gene-based testing resulted in four significantly associated genes, which are located in the same chromosomal region on chromosome 19p13.11: MEF2BNB, RFXANK, MEF2BNB-MEF2B and MEF2B. '), ('4002', 'NPM_ALK', 't(2;5)  / t(2;5)(p23;q35) / ', 'NPM', 'ALK', '25820993', '100', 'anaplastic large cell lymphoma;non Hodgkin lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'About half of ALCL patients bear the t(2;5)(p23;q35) translocation, which results in the formation of the nucleophosmin-anaplastic lymphoma tyrosine kinase (NPM-ALK) fusion protein (ALCL ALK(+)). '), ('4003', 'NPRL2_G21', '3p21.3 / ', 'NPRL2', 'G21', '15374952', '100', 'lung cancer\r\r', '', 'Kinase', '', '', '', '', '', '', 'Functional characterization of the candidate tumor suppressor gene NPRL2/G21 located in 3p21.3C..     ///    \" Initial analysis identified the NPRL2/G21 gene located in 3p21.3C, the lung cancer region, as a strong candidate tumor suppressor gene. \"    ///    \"We report inactivating mutations in a variety of tumors and cancer cell lines, growth suppression of tumor cells with tet-controlled NPRL2/G21 transgenes on plastic Petri dishes, and suppression of tumor formation in SCID mice. \"    ///    \"We speculate that the NPRL2/G21 nuclear protein may be involved in mismatch repair, cell cycle checkpoint signaling, and activation of apoptotic pathway(s). \"    ///    At least two homozygous deletions of NPRL2/G21 were detected in 6 tumor biopsies from various locations and with microsatellite instability.     ///    \"By sequence analysis, the main product of NPRL2/G21 encodes a soluble protein that has a bipartite nuclear localization signal, a protein-binding domain, similarity to the MutS core domain, and a newly identified nitrogen permease regulator 2 domain with unknown function. \"    ///    Here we provide additional evidence of the tumor suppressor function of NPRL2/G21. '), ('4004', 'ETO_AML1', 't(8;21)  / inv(16)  / inv(16) / t(16;16) / ', 'ETO', 'AML1', '7496357', '100', '', '', '', '', '', '', '', '', '', ' AML with eosinophilia belongs to the morphologic cytogenetic entity M1/M2 t(8;21) with the involvement of the genes AML1/ETO. '), ('4005', 'MLL_AF4', 't(4;11)  / ', 'MLL', 'AF4', '21277021', '100', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Authors\' comments: t(4;11) leukemias display addiction to MLL-AF4 but not to AF4-MLL.. '), ('4006', 'MYH11_CBFB', 't(15;17) / t(8;21) / inv (16) / t(16;16) / ', 'MYH11', 'CBFB', '22207733', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', '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. '), ('4007', 'MIR16-1_MIR15a', '17p13.3 / ', 'MIR16-1', 'MIR15a', '22301699', '100', 'non Hodgkin lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Losses of 13q14.3 (MIRN15A-MIRN16-1) and 17p13.3-p12 (TP53) were found in lymphoplasmacytic and splenic marginal zone lymphomas. '), ('4008', 'NPHP4_AJAP1', '1p36.32 / ', 'NPHP4', 'AJAP1', '22797725', '100', 'lung cancer\r\r', '', '', '', '', '', '', '', '', 'We also found consistent associations for rs247008 at 5q31.1 (IL3-CSF2-P4HA2, P = 7.68 ?? 10(-8)) and rs9439519 at 1p36.32 (AJAP1-NPHP4, P = 3.65 ?? 10(-6)). '), ('4009', 'SAFB2_SAFB1', '19p13.3 / ', 'SAFB2', 'SAFB1', '19077293', '100', 'breast cancer\r\r', '', '', '', '', '', '', '', '', ' The scaffold attachment factor B1 and B2 genes, SAFB1/SAFB2 (both located on chromosome 19p13.3) have recently been suggested as tumour suppressor genes involved in breast cancer development.     ///    In this study we investigated the possible involvement of SAFB1/SAFB2 on familiar breast cancer by inherited mutations in either of the two genes.     ///    \"Somatic mutations in SAFB1/SAFB2 have been detected in breast tumours, but to our knowledge no studies on germline mutations have been reported. \"'), ('4010', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '27144550', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Celastrol Induces Cell Apoptosis and Inhibits the Expression of the AML1-ETO/C-KIT Oncoprotein in t(8;21) Leukemia..     ///    \"In addition, we found that celastrol downregulated the AML1-ETO fusion protein, therefore downregulating C-KIT kinases and inhibiting AKT, STAT3 and Erk1/2. \"'), ('4011', 'TERT_CLPTM1L', '5p15.33 / ', 'TERT', 'CLPTM1L', '22213090', '100', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'Fine-mapping of a region of chromosome 5p15.33 (TERT-CLPTM1L) suggests a novel locus in TERT and a CLPTM1L haplotype are associated with glioma susceptibility in a Chinese population..     ///     Two genome-wide association studies (GWAS) have identified 5p15.33 (TERT-CLPTM1L) as one of the susceptible regions for glioma in European background. '), ('4012', 'TFE3_ASPL', 't(6;11) / ', 'TFE3', 'ASPL', '20952280', '100', 'renal cell carcinoma\r\r', '', '', '', '', '', '', '', '', 'The smaller contralateral tumor was focally HMB45 positive and had unusual histomorphology, including features resembling clear renal cell carcinoma with features of both t(6;11)- and t(X;17)/ASPL-TFE3 carcinomas. '), ('4013', 'MLLT3_MLL', 't(9;11)(p22;q23) / ', 'MLLT3', 'MLL', '23594338', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', '', 'Seq', 'Congenital leukemia cutis preceding acute myeloid leukemia with t(9;11)(p22;q23), MLL-MLLT3.. '), ('4014', 'P16_P15', 't(9;22) / t(4;11) / t(1;19) / ', 'P16', 'P15', '15650057', '100', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Of 414 patients centrally processed, 325 were considered for the categorization into the following cytogenetic-molecular subgroups: normal, t(9;22)/BCR-ABL, t(4;11)/MLL-AF4, t(1;19)/E2A-PBX1, 9p/p15-p16 deletions, 6q deletions, miscellaneous structural abnormalities, and hyperdiploid.     ///    \"Patients without abnormalities and those with isolated 9p/p15-p16 deletions showed a relatively favorable outcome (median disease-free survival [DFS], > 3 years). \"'), ('4015', 'ETO_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) / ', 'ETO', '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. '), ('4016', 'RARA_PL', 't(15;17) / ', 'RARA', 'PL', '18445086', '100', '', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', ' The hallmark of acute promyelocytic leukaemia (APL) is the reciprocal translocation t(15;17), which leads to the expression of the promyelocytic leukaemia/retinoic acid receptor alpha (PML/RARalpha) fusion protein and a cell differentiation blockade at the promyelocytic stage. '), ('4017', 'MYH11_CBFB', 't(8;21) / t(15;17)  / inv(16) / t(15;17) / t(8;21)  / inv(16)  / ', 'MYH11', 'CBFB', '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. \"'), ('4018', 'CDKN2B_CDKN2A', '5p15.33 / 9p21.3 / ', 'CDKN2B', 'CDKN2A', '19578367', '100', 'primary brain tumor', '', 'Kinase', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'P = 2.34 x 10(-18)), 9p21.3 (rs4977756, CDKN2A-CDKN2B. '), ('4019', 'RUNX1_CBFA2T1', 't(8;21) / ', 'RUNX1', 'CBFA2T1', '15298716', '100', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'We examined the consequences of siRNA-mediated RUNX1-CBFA2T1 depletion regarding proliferation and clonogenicity of t(8;21)-positive cell lines.     ///    \"The t(8;21)-positive cell line Kasumi-1 was electroporated with RUNX1-CBFA2T1 or control siRNAs followed by analysis of proliferation, colony formation, cell cycle distribution, apoptosis and senescence. \"    ///    RUNX1-CBFA2T1 supports the proliferation and expansion of t(8;21)-positive leukaemic cells by preventing cellular senescence.     ///    The oncogenic fusion protein RUNX1-CBFA2T1 supports proliferation and inhibits senescence in t(8;21)-positive leukaemic cells..     ///     The fusion protein RUNX1-CBFA2T1 associated with t(8;21)-positive acute myeloid leukaemia is a potent inhibitor of haematopoetic differentiation.     ///    \"Electroporation of Kasumi-1 cells with RUNX1-CBFA2T1 siRNAs, but not with control siRNAs, resulted in RUNX1-CBFA2T1 suppression which lasted for at least 5 days. \"    ///    A single electroporation with RUNX1-CBFA2T1 siRNA severely diminished the clonogenicity of Kasumi-1 cells.     ///    \"Prolonged RUNX1-CBFA2T1 depletion inhibited proliferation in suspension culture and G1-S transition during the cell cycle, diminished the number of apoptotic cells, but induced cellular senescence. \"    ///    The role of RUNX1-CBFA2T1 in leukaemic cell proliferation is less clear.     ///    \"Therefore, RUNX1-CBFA2T1 is a promising and leukaemia-specific target for molecularly defined therapeutic approaches.. \"    ///    These findings suggest a central role of RUNX1-CBFA2T1 in the maintenance of the leukaemia. '), ('4020', 'IGF2_H19', 'chr3:12313450 / chr3:12412978 / ', 'IGF2', 'H19', '25549360', '100', 'placental abruption', '', '', '', '', '', '', '', '', 'We found maternal-placental genetic interactions on PA risk for two SNPs in PPARG (chr3:12313450 and chr3:12412978) and maternal imprinting effects for multiple SNPs in the C19MC and IGF2/H19 regions.     ///    We assessed maternal-placental interactions in the candidate gene SNPS and two imprinted regions (IGF2/H19 and C19MC). '), ('4021', 'BCL2_IG', 't(14;18)  / ', 'BCL2', 'IG', '3285301', '100', 'follicular lymphoma;B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In SU-DHL-6 the t(14;18) translocation juxtaposes a truncated bcl-2 gene with J6 in a tail-to-head configuration, resulting in the deregulated expression of chimeric bcl-2/Ig transcripts. '), ('4022', 'BCR_ABL1', 't(9;22)(q34;q11) / ', 'BCR', 'ABL1', '23666687', '100', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The reciprocal Philadelphia translocation between chromosomes 9 and 22 [t(9;22)(q34;q11)] creates a BCR-ABL1 fusion protein that occurs in approximately 95% of cases of chronic myelogenous leukemia (CML), 15% of cases of adult acute lymphoblastic leukemia, and 5% of adult cases of acute myeloid leukemia.     ///    Quantitative BCR-ABL1 RQ-PCR fusion transcript monitoring in chronic myelogenous leukemia..     ///    \"A consensus goal for TKI treatment is to achieve a major molecular response (MMR), defined as a 3-log (1,000-fold) reduction in BCR-ABL1 transcripts. \"    ///    We describe here a method for quantitating BCR-ABL1 transcripts in peripheral blood or bone marrow of CML patients using real-time quantitative reverse transcription PCR (RQ-PCR)..     ///    \"Thus, quantitative measurement of BCR-ABL1 transcripts in blood and bone marrow both aids in the initial diagnosis of CML and is essential for routine post-therapy minimal residual disease monitoring. \"    ///    The BCR-ABL1 protein is a constitutively activated tyrosine kinase that induces and maintains the neoplastic phenotype in these leukemias.     ///    PCR-based methods to identify and quantitate the tumor-specific BCR-ABL1 RNA have been shown to be an ultrasensitive diagnostic/prognostic tool for Philadelphia-positive leukemias.     ///    \"Conversely, increasing post-therapy BCR-ABL1 RNA levels convey a significantly increased risk of disease progression. \"'), ('4023', 'P12_P11', '12p12.3 / 9p21.3 / 18p11.31 / ', 'P12', 'P11', '24416132', '100', 'breast cancer', '', '', '', '', '', '', '', '', 'Frequent CNAs included 8p11-p12 and 11q13.1-q13.2 amplifications, 7q11.22-q34, 8q21.12-q24.23, 12p12.3-p13.1, 12q13.11-q24.11, 14q21.1-q23.1, 17q11.1-q25.1, 20q11.23-q13.33 gains and 6q14.1-q24.2, 9p21.3-p24,3, 9q21.2, 18p11.31-p11.32 losses. '), ('4024', 'IGH_FGFR3', 't(4;14)  / ', 'IGH', 'FGFR3', '19837276', '100', '', '', 'Kinase', '', '', '', '', '', '', 'FGFR3 amplification in the absence of IGH@-FGFR3 fusion t(4;14) in myeloma.. '), ('4025', 'MYLIP_GMPR', '6p22.3 / 6p21.32 / 8p23.1 / 11p15.4 / 8p21.3 / 2p23.3 / ', 'MYLIP', 'GMPR', '19936222', '100', '', '', '', '', '', '', '', '', '', 'Among 36 loci with genome-wide significance (P<5x10(-8)) in primary and secondary analysis, ten (PCCB/STAG1 (3q22.3), GMPR/MYLIP (6p22.3), BTNL2 (6p21.32), KLF14 (7q32.2), 8p23.1, JMJD1C (10q21.3), SBF2 (11p15.4), 12q23.2, CCDC92/DNAH10/ZNF664 (12q24.31.B), and WIPI1 (17q24.2)) have not been reported in prior genome-wide association studies for plasma lipid concentration. '), ('4026', 'TEL_AML1', 't(12;21) / t(1;19) / t(4;11) / t(9;22) / ', 'TEL', 'AML1', '11071360', '100', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'For example, the t(12;21)/TEL-AML1 (ETV6-CBFA2) or hyperdiploid karyotypes each identifies subgroups of children who can be cured with well-tolerated chemotherapy based primarily on drugs with few long-term toxicities, such as L-asparaginase and antimetabolites. '), ('4027', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '23097187', '100', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' Activating mutations of c-Kit are frequently found in acute myeloid leukemia (AML) patients harboring t(8;21) chromosomal translocation generating a fusion protein AML1-ETO.     ///    Here we show that an active mutant of c-Kit cooperates with AML1-ETO to induce AML in mouse bone marrow transplantation models.     ///    Leukemic cells expressing AML1-ETO with c-Kit(D814V) were serially transplantable.     ///    \"Interestingly, CD200R1 was upregulated in KSL cells transduced with AML1-ETO, but not with other leukemogenic mutants, including c-Kit(D814V), AML1(D171N), and AML1(S291fsX300). \"'), ('4028', 'BCR_ABL1', 't(9;22)  / ', 'BCR', 'ABL1', '16079118', '100', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'e6a2 BCR/ABL1 fusion with cryptic der(9)t(9;22) deletions in a patient with chronic myeloid leukemia..     ///     This is the first report of e6a2 and e1a2 BCR/ABL1 positive chronic myeloid leukemia (CML) with cryptic deletions of the 5\'ABL1 and 3\'BCR in separate clones which differ in genomic regions of the deleted der(9). '), ('4029', 'PIT1_GHF1', '6p22.1 / ', 'PIT1', 'GHF1', '12536633', '100', '', '', '', '', '', '', '', '', '', 'After searching GenBank, we aligned the genomic gene of the GPI-PLD by DNATools software, and found that the GPI-PLD genomic gene was located in the human 6p22.1-22.3 and contained 25 exons, TATA box, CAAT box, enhancer and the sequence binding homo domain of Pit-1/GHF-1.. '), ('4030', 'ETV6_ABL1', 't(9;12)(q34;p13) / t(7;14) / p13;q11.2 / ', 'ETV6', 'ABL1', '24318592', '100', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Extramedullary T-lymphoid blast crisis of an ETV6/ABL1-positive myeloproliferative neoplasm with t(9;12)(q34;p13) and t(7;14)(p13;q11.2).. '), ('4031', 'TEL_FGFR3', 't(4;14)  / t(4;12)(p16;p13) / ', 'TEL', 'FGFR3', '15784730', '100', 'thanatophoric dysplasia', '', 'Kinase', '', '', '', '', '', '', 'Similar observations were obtained in the context of a constitutively activated fusion TEL-FGFR3 associated with t(4;12)(p16;p13) peripheral T-cell lymphomas. '), ('4032', 'MUC19_LRRK2', 'chr1q32  / chr13q14  / ', 'MUC19', 'LRRK2', '21152001', '100', 'ankylosing spondylitis;gastrointestinal diseases', '', 'Kinase', '', '', '', '', '', '', 'Association was confirmed for IL23R (rs11465804, P = 1.2 ?? 10(-5), OR = 0.65 (95% CI:0.54-0.79)), and further associations were detected for IL12B (rs10045431, P = 5.2 ?? 10(-5), OR = 0.83 (95% CI:0.76-0.91)), CDKAL1 (rs6908425, P = 1.1 ?? 10(-4), OR = 0.82 (95% CI:0.74-0.91)), LRRK2/MUC19 (rs11175593, P = 9.9 ?? 10(-5), OR = 1.92 (95% CI: 1.38-2.67)), and chr13q14 (rs3764147, P =?5.9 ?? 10(-4), OR = 1.19 (95% CI: 1.08-1.31)). '), ('4033', 'PCM1_JAK2', 't(8;9)(p22;24) / ', 'PCM1', 'JAK2', '23701125', '100', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Implication of MAPK1/MAPK3 signalling pathway in t(8;9)(p22;24)/PCM1-JAK2 myelodysplastic/myeloproliferative neoplasms.. '), ('4034', 'PHLDB1_DDX6', '5p15.3 / 9p21.3 / ', 'PHLDB1', 'DDX6', '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). ');
