INSERT INTO `ChimerPub_dump` VALUES ('2759', 'TOP1_NUP98', 't(11;20)(p15;q11) / t(7;11)(p15;p15) / t(2;11)(q31;p15) / inv(11)(p15q22) / ', 'TOP1', 'NUP98', '10556215', '133', 'myelodysplastic syndrome;leukemia\r\r', '', '', '', '', '', '', 'KB', '', 'The t(11;20)(p15;q11) chromosomal translocation associated with therapy-related myelodysplastic syndrome results in an NUP98-TOP1 fusion.. '), ('2760', 'IGH_BCL2', 't(14;18)  / t(14;18) / ', 'IGH', 'BCL2', '10828038', '133', 'follicular lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Follicular lymphomas\' BCL-2/IgH junctions contain templated nucleotide insertions: novel insights into the mechanism of t(14;18) translocation.. '), ('2761', 'MYC_IGH', 't(8;14)(q24;q32) / ', 'MYC', 'IGH', '10653866', '133', 'lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The c-MYC/IGH fusion gene of DLCL is identical to that of the sporadic type of BL (sBL).     ///    DLCL with c-MYC/IGH shares clinical features with sBL but is characterized further by an older age distribution..     ///    We explored molecular features of DLCL with c-MYC/IGH fusion and the impact of this genetic abnormality on clinical outcome of DLCL. '), ('2762', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '8396481', '133', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The translocation, which is balanced and reciprocal, leads to the formation of two fusion genes, PML/RAR alpha and RAR alpha/PML.     ///    \"The PML/RAR alpha gene codes for two abnormal proteins: the PML/RAR alpha fusion protein and an abnormal PML protein, the RAR alpha/PML gene encodes the RAR alpha/PML fusion protein. \"'), ('2763', 'MTC_BCL1', 't(11;14)(q13;q32) / t(11;14)  / ', 'MTC', 'BCL1', '7533528', '133', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'We think that attention should be focused on this region centromeric to the BCL1-MTC, where the investigation of previously unidentified translocations may increase understanding of the PRAD1 gene deregulation in t(11;14) associated pathologies..     ///    Molecular cloning of a t(11;14)(q13;q32) translocation breakpoint centromeric to the BCL1-MTC.. '), ('2764', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '21499236', '133', 'prostate cancer;adenocarcinoma\r\r', 'PCR', '', '', '', '', '', 'KB', 'Seq', 'The TMPRSS2-ERG gene fusion that leads to ERG overexpression occurs in ~70% of prostate cancers.     ///    ERG overexpression was due to TMPRSS2-ERG gene fusion in all cases. '), ('2765', 'SYT_SSX1', 'p11;q11 / ', 'SYT', 'SSX1', '11433527', '132', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'It has been shown that patients with SYT/SSX1 fusion genes have a shorter metastasis-free survival than do patients with SYT/SSX2.     ///    \"Combining cytogenetic complexity and transcript data, we found that the subgroup of patients with tumors showing simple karyotypes and SYT/SSX2 fusion had the best clinical outcome (2/8 patients developed metastases), and those with tumors showing complex karyotypes together with SYT/SSX1 fusion the worst (6/7 patients developed metastases). \"    ///    \"The reciprocal transcripts SSX1/SYT and SSX2/SYT were detected using nested PCR in 11 of the 40 samples with SYT/SSX1 and 5 of the 23 samples with SYT/SSX2, respectively. \"    ///    \"SYT/SSX1 was found in 40 tumors from 33 patients, SYT/SSX2 in 23 tumors from 20 patients, and SYT/SSX4 in one case. \"    ///    \"7/15) showed complex karyotypes than did tumors with SYT/SSX1, but the difference was not significant. \"    ///    \"Among 20 blood samples, SYT/SSX1 and SYT/SSX2 were detected in one sample each. \"    ///    Patients with tumors with SYT/SSX1 fusions had a higher risk of developing metastases compared to those with SYT/SSX2 fusions (P = 0.01).     ///    \"This translocation results in rearrangements of the SYT gene in 18q11 and one of the SSX1, SSX2, or SSX4 genes in Xp11, creating a SYT/SSX1, SYT/SSX2, or SYT/SSX4 chimeric gene. \"'), ('2766', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '11283671', '132', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Dominant-negative mutations of CEBPA have been found in some patients with acute myeloid leukemia (AML), but not in AML with the t(8;21) translocation which gives rise to the fusion gene RUNX1-CBF2T1 (also known as AML1-ETO) encoding the AML1-ETO fusion protein.     ///    AML1-ETO downregulates the granulocytic differentiation factor C/EBPalpha in t(8;21) myeloid leukemia..     ///    AML1-ETO appears to suppress C/EBPalpha expression indirectly by inhibiting positive autoregulation of the CEBPA promoter. '), ('2767', 'MYH11_CBFB', 'inv(16) / t(16;16) / p13.1;q22 / ', 'MYH11', 'CBFB', '18328953', '132', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'At the molecular level, these abnormalities generate a CBFB-MYH11 fusion gene.     ///    Banding and molecular cytogenetic studies detected a CBFB-MYH11 fusion gene that appeared as abnormal chromosomes 1 and 16 in a baby with acute myeloid leukemia FAB M4-Eo..     ///    \"We describe clinical, conventional banding, and molecular cytogenetic data for a 12-month-old baby with AML-M4Eo and a chimeric CBFB-MYH11 fusion gene masked by a novel rearrangement between chromosomes 1 and 16. \"'), ('2768', 'BCL2_IGH', 't(14;18)  / ', 'BCL2', 'IGH', '9432035', '132', 'follicular lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In the present study we analysed the junctional nucleotide sequence of 18 bcl-2/IgH fusion genes identifiable by polymerase chain reaction performed on DNA extracted from diagnostic lymph node tissue of 14 follicular lymphoma patients.     ///    Nucleotide sequence data analysis and comparisons performed with the corresponding germline sequences using the GenBank/EMBL database revealed the presence of D segments in most of the bcl-2/IgH fusion genes under study (13/18).     ///     bcl-2/IgH fusion is considered a genetic error which occurs at the diversity (D) to joining (J(H)) stage of the gene rearrangement process in the immunoglobulin heavy chain (IgH) gene locus.     ///    These results suggest that bcl-2/IgH fusion events are very prevalent in rather more differentiated stages in B-cell ontogeny than previously recognized.. '), ('2769', 'FUS_ERG', 't(16;21)(p11;q22) / t(16;21)(p11;q22) / / ', 'FUS', 'ERG', '19893346', '132', 'acute myeloid leukemia', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'His karyotype was 46,XY,t(16;21)(p11;q22),del(18)(p11.2) and RT-PCR revealed the TLS/FUS-ERG fusion transcripts.    ///    We suggest that the presence of t(16;21)(p11;q22) and/or TLS/FUS-ERG fusion transcripts has to be considered in cases of AML with erythrophagocytosis..     ///    [Two cases of acute myeloid leukemia with t(16;21)(p11;q22) and TLS/FUS-ERG fusion transcripts]..     ///    \"His karyotype was 46,XY,t(16;21)(p11;q22),del(18)(p11.2) and RT-PCR revealed the TLS/FUS-ERG fusion transcripts. \"'), ('2770', 'TPM3_ALK', 't(1;2)  / ', 'TPM3', 'ALK', '10610119', '132', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Complex variant translocation t(1;2) with TPM3-ALK fusion due to cryptic ALK gene rearrangement in anaplastic large-cell lymphoma.. '), ('2771', 'PML_PAX5', 't(9;15)(p13;q24) / ', 'PML', 'PAX5', '17897302', '132', '', '', '', 'Oncogene', '', '', '', '', '', 'The putative PAX5-PML fusion gene encodes a chimaeric protein that retains the paired domain, the octapeptid and the partial homeodomain of PAX5, and virtually the whole PML protein. '), ('2772', 'SYT_SSX4', 'p11.2;q11.2 / ', 'SYT', 'SSX4', '10879732', '132', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Also, a variant SYT-SSX4 fusion gene has recently been shown in a single SS case.     ///    The analysis was extended to SYT-SSX4 on SYT-SSX1-negative and SYT-SSX2-negative cases only.     ///    The SYT-SSX4 fusion type was detected in a single monophasic SS. '), ('2773', 'FUS_CREB3L2', 't(7;16)(q33;p11) / ', 'FUS', 'CREB3L2', '17295648', '132', 'sarcoma\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Reported herein is a case of primary pulmonary HSCT that had FUS-CREB3L2 fusion transcripts, a product of characteristic chromosomal abnormality t(7;16)(q33;p11) of HSCT and LGFMS.     ///    \"Reverse transcription-polymerase chain reaction (RT-PCR) assay using formalin-fixed, paraffin-embedded tissue detected FUS-CREB3L2 fusion transcripts. \"    ///    RT-PCR for detection of FUS-CREB3L2 fusion transcripts is a useful method for differential diagnosis of primary pulmonary HSCT..     ///    Hyalinizing spindle cell tumor with giant rosettes arising in the lung: report of a case with FUS-CREB3L2 fusion transcripts.. '), ('2774', 'CALM_AF10', 'p12;q14 / ', 'CALM', 'AF10', '11106826', '132', 'lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'CALM-AF10 fusion gene in leukemias: simple and inversion-associated translocation (10;11)..     ///    The presence of CALM-AF10 fusion was ascertained by reverse transcriptase-polymerase chain reaction (RT-PCR) analysis. '), ('2775', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '7523801', '132', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Molecular diversity in AML1/ETO fusion transcripts in patients with t(8;21) positive acute myeloid leukaemia..     ///     Patients with acute myeloid leukaemia with maturation (AML-M2) that carried the t(8;21) were tested for the presence of chimeric AML1/ETO mRNA.     ///    Molecular diversity in the AML1-ETO transcripts will have consequences for the detection of minimal residual disease and antisense studies.. '), ('2776', 'RBM15_MKL1', 't(1;22)(p13;q13) / p13;q13 / ', 'RBM15', 'MKL1', '21370421', '132', 'acute myeloid leukemia', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', 'Seq', 'Acute megakaryoblastic leukemia with a four-way variant translocation originating the RBM15-MKL1 fusion gene..     ///    The RBM15-MKL1 fusion transcript was detected by RT-PCR and confirmed by sequencing analyses. '), ('2777', 'MOZ_CBP', 't(8;16)(p11;p13) / ', 'MOZ', 'CBP', '22278196', '132', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' We developed a real time reverse transcriptase polymerase chain reaction (RT-PCR) assay system for detecting the MOZ-CBP fusion transcript and used it to monitor minimal residual disease (MRD) status in a patient with therapy related acute myeloid leukemia (t-AML) harboring t(8;16)(p11;p13).     ///    Quantitative RT-PCR analysis of the MOZ-CBP fusion transcript in therapy-related acute myeloid leukemia with t(8;16)(p11;p13)..     ///    Expression of the MOZ-CBP fusion transcript was determined by RT-PCR analysis of the patient\'s bone marrow at the time of diagnosis.     ///    The sensitivity of quantitative RT-PCR for the MOZ-CBP fusion transcript was 10(-5).     ///    Real time RT-PCR of the MOZ-CBP transcript is a useful tool for assessing MRD status for a patient with therapy related acute myeloid leukemia who was initially predicted to have a poor prognosis..     ///    Real time RT-PCR of the bone marrow after induction therapy showed the reduction of MOZ-CBP transcript to approximately 10(-3) level when compared to the diagnostic sample. '), ('2778', 'CALM_AF10', 't(10;11)(p13;q14q21) / ', 'CALM', 'AF10', '20445327', '132', 'myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Here, we describe the cases of 2 patients with the CALM-AF10 fusion gene.     ///    \"Because the CALM-AF10 rearrangement is a rare chromosomal abnormality, it is not included in routine molecular tests for acute leukemia. \"'), ('2779', 'MYH11_CBFB', 'inv(16) / inv(16)  / ', 'MYH11', 'CBFB', '11241787', '132', 'leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Detection and quantification of CBFB/MYH11 fusion transcripts in patients with inv(16)-positive acute myeloblastic leukemia by real-time RT-PCR..     ///    These data indicate that real-time RT-PCR can be used for the sensitive detection and quantification of CBFB/MYH11 transcripts in the follow-up of patients with inv(16)-positive AML..     ///     We used a newly established real-time RT-PCR assay for the quantification of the leukemia-specific CBFB/MYH11 transcripts in inv(16)-positive acute myeloblastic leukemia.     ///    \"CBFB/MYH11 could be quantified over a five log range, with a detection limit of 10 molecules of a CBFB/MYH11 plasmid and a 1:10(5) dilution of RNA of the inv(16)-positive ME-1 cell line, respectively. \"    ///    \"Three patients relapsed, and their CBFB/MYH11 transcripts rose again to pretreatment levels. \"    ///    All of these patients showed a similar decline of CBFB/MYH11 after intensive therapy.     ///    \"In two patients, this increase in CBFB/MYH11 could be detected by real-time PCR before hematological relapse. \"    ///    Six of these patients are in complete remission with a stable low-level or absent CBFB/MYH11 expression.     ///    \"In nine patients, CBFB/MYH11 was also quantified during/after chemotherapy and autologous or allogeneic stem cell transplantation. \"    ///    The expression of CBFB/MYH11 varied over a two log range without correlation to clinical response or relapse rate. '), ('2780', 'RBM15_MKL1', 't(1;22)(p13;q13) / ', 'RBM15', 'MKL1', '24743787', '132', 'acute myeloid leukemia', 'PCR;RT-PCR', '', '', '', '', '', 'KB', 'Seq', 'Detection of the RBM15-MKL1 fusion transcript thus seems to be useful for accurate diagnosis of AMKL with t(1;22)(p13;q13).     ///    We present here the case of a 4-month-old female AMKL patient who was diagnosed by presence of the RBM15-MKL1 (OTT-MAL) fusion transcript by RT-PCR.     ///    We recommend that the RBM15-MKL1 fusion transcript be analyzed for all suspected AMKL in infants and young children.     ///    Detection of RBM15-MKL1 fusion was useful for diagnosis and monitoring of minimal residual disease in infant acute megakaryoblastic leukemia..     ///    \"In addition, we monitored RBM15-MKL1 fusion at several time points as a marker of minimal residual disease (MRD), and found that it was continuously negative after the first induction chemotherapy even by nested RT-PCR. \"'), ('2781', 'HRX_ENL', 't(11;19)  / t(4;11)  / ', 'HRX', 'ENL', '9129043', '132', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'The specificity of these reagents was confirmed using cells transfected with the HRX-ENL fusion gene. '), ('2782', 'BCR_ABL1', 't(9;22)(q34;q11) / ', 'BCR', 'ABL1', '1756491', '132', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Joining of the BCR and ABL genes is an essential feature of the group of human leukemias characterized by the Philadelphia chromosome and there is recent evidence that the human BCR-ABL fusion gene induces leukemia in experimental animals. '), ('2783', 'DEK_CAN', 't(6;9)  / ', 'DEK', 'CAN', '15477217', '132', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Quantification of DEK-CAN fusion transcript by real-time reverse transcription polymerase reaction in patients with t(6;9) acute myeloid leukemia..     ///     Real-time reverse transcription polymerase reaction (RT-PCR) was used to examine DEK-CAN transcript levels in serial samples from three patients with t(6;9) acute myeloid leukemia treated with intensive chemotherapy.     ///    \"DEK-CAN level significantly increased in two patients before relapse, while in the third a level of 2x10(-3) in remission bone marrow preceded relapse by 2 months.. \"'), ('2784', 'FGFR1_CEP110', 't(8;9)(p11;q33) / ', 'FGFR1', 'CEP110', '18295660', '132', 'hypereosinophilic syndrome\r\r', 'PCR;RT-PCR', 'Kinase', '', '', '', '', '', '', '8p11 myeloproliferative syndrome preceded by t(8;9)(p11;q33), CEP110/FGFR1 fusion transcript: morphologic, molecular, and cytogenetic characterization of myeloid neoplasms associated with eosinophilia and FGFR1 abnormality..     ///    \"Two months later, chromosome study revealed a 46,XY,t(8;9)(p11;q33) karyotype, and the CEP110/FGFR1 fusion transcript was detected by reverse transcription-polymerase chain reaction (RT-PCR) in both this and the previous bone marrow specimen. \"'), ('2785', 'ETO_AML1', 't(8;21) / t(8;21)(q22;q22) / ', 'ETO', 'AML1', '9737700', '132', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' The AML1/ETO fusion transcript can be detected by reverse transcription polymerase chain reaction (RT-PCR) in patients with t(8;21)-associated acute myeloid leukemia (AML) in long-term complete remission (CR).     ///    These features make this an attractive method to prospectively evaluate the prognostic value of AML1/ETO fusion transcript quantitation in a larger patient population with t(8;21)(q22;q22) AML in CR..     ///    \"Each patient showed > or = 10(3) copies of the AML1/ETO fusion transcript at diagnosis, and each showed a 2- to 4-log decrease in copy number following successful induction chemotherapy. \"    ///    Detection of minimal residual disease in patients with AML1/ETO-associated acute myeloid leukemia using a novel quantitative reverse transcription polymerase chain reaction assay.. '), ('2786', 'ETO_AML1', 't(8;21)  / t(15;17)  / inv(16) / ', 'ETO', 'AML1', '15291357', '132', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In patients with t(8;21) positive AML no consensus exists over the disappearance of the AML1/ETO fusion transcript during the course of disease and most studies reported reverse transcriptase polymerase chain reaction (RT-PCR) positivity as a common finding after consolidation chemotherapy, autologous and allogeneic stem cell transplantation (alloSCT).     ///    Due to the slow kinetics of AML1/ETO after consolidation chemotherapy the value of qualitative RT-PCR to predict early relapse is limited. '), ('2787', 'FLI1_ERG', 't(11;12)(q24;12) / ', 'FLI1', 'ERG', '15363317', '132', 'synovial sarcoma;rhabdomyosarcoma;neuroectodermal tumor;ewing sarcoma;neuroblastoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' To investigate the expression of EWS-FLI1/ERG fusion transcript resulting from t(11;12)(q24;12) in paraffin-embedded tissues and its diagnostic implication for Ewing\'s sarcoma/peripheral primitive neuroectodermal tumors (ES/pPNET).     ///    EWS-FLI1/ERG fusion transcript was detected in 20 of the 25 ES/pPNET cases (80%).     ///    Detection of EWS-FLI1/ERG fusion transcript is a reliable index for molecular diagnosis of ES/pPNET.     ///    \"One-step reverse transcriptase-polymerase chain reaction (RT-PCR) was employed to detect a characteristic EWS-FLI1/ERG fusion transcript in 25 cases of ES/pPNET and 15 cases of other small round cell tumors (including 8 cases of rhabdomyosarcoma, 4 cases of synovial sarcoma, 2 cases of neuroblastoma and 1 case of lymphoma) using formalin-fixed and paraffin-embedded tissues. \"    ///    The 15 non-ES/pPNET control cases were negative for EWS-FLI1/ERG fusion transcript. '), ('2788', 'ETO_AML1', 't(8;21)  / t(8;21)(q22;q22) / ', 'ETO', 'AML1', '9250799', '132', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Rapid disappearance of AML1/ETO fusion transcripts in patients with t(8;21) acute myeloid leukemia following bone marrow transplantation and chemotherapy..     ///    The present findings appear different from other studies which reported the detection of AML1-ETO chimeric RNA in long-term CR patients.. '), ('2789', 'BCR_ABL1', '', 'BCR', 'ABL1', '2487142', '132', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'These data support the notion that the unusual genetic recombinations that give rise to BCR/ABL fusion genes in CML involve specific DNA sequences of BCR (and possibly ABL) and additional, recombinogenic sequences, at least some of which are present in loci known to be nonrandomly involved in complex Ph1 translocations.. '), ('2790', 'SYT_SSX', 'p11.2;q11.2 / ', 'SYT', 'SSX', '11826189', '132', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The t(X;18) (p11.2;q11.2) has been demonstrated to be highly characteristic of synovial sarcomas, and the resulting SYT-SSX fusion transcripts have been shown to be useful diagnostic markers.     ///    One of 16 (6.25%) monophasic fibrous synovial sarcomas was negative for either SYT-SSX fusion transcript.     ///    Detection of SYT-SSX fusion transcripts in archival synovial sarcomas by real-time reverse transcriptase-polymerase chain reaction.. '), ('2791', 'SIL_SCL', 't(11;14)  / ', 'SIL', 'SCL', '1311214', '132', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'The SIL/SCL rearrangement was found in leukemic blasts from 11 of 70 (16%) newly diagnosed T-cell ALL patients, a prevalence substantially higher than that of the t(11;14) translocation, which has previously been reported as the most frequent nonrandom chromosomal abnormality in T-cell ALL.     ///    \"We did not detect the SIL/SCL rearrangement in the leukemic blasts from 30 patients with B-cell precursor ALL, indicating that the rearrangement was specific for T-cell ALL. \"    ///    \"Analysis of RNA from these patients indicated that an SIL/SCL fusion mRNA was formed, joining SIL and SCL in a head-to-tail fashion. \"'), ('2792', 'CALM_AF10', 't(10;11)  / t(10;11) / ', 'CALM', 'AF10', '15631658', '132', 'leukemia;lymphoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'It is concluded that the CALM-AF10 fusion transcripts are a common features and are involved in the pathogenesis of haematological malignancies with t(10;11), and are associated with a poor prognosis..     ///    [CALM-AF10 fusion transcripts in primary leukemia with t(10;11) and in vitro chemotherapy sensitivity of leukemic cells with t(10;11)]..     ///    \" In order to determine the involvement of CALM-AF10 fusion transcripted in primary leukaemias with t(10;11) and its chemotherapy sensitivity in vitro, the AF10-CALM fusion transcripts were detected by reverse transcription-polymerase chain reaction (RT-PCR), and the chemotherapy sensitivity testing in vitro was undergone by MTT assay in five t(10;11) leukemia samples from patients with ALL, AML and lymphoblastic lymphoma. \"    ///    The results showed that five different-sized AF10-CALM product and four different-sized CALM-AF10 products were detected. '), ('2793', 'OTT_MAL', 't(1;22)  / ', 'OTT', 'MAL', '12764392', '132', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'A novel real-time RT-PCR assay for quantification of OTT-MAL fusion transcript reliable for diagnosis of t(1;22) and minimal residual disease (MRD) detection.. '), ('2794', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '8947582', '132', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', ' Six patients with acute promyelocytic leukaemia (APL) and t(15;17) were investigated by cytogenetics and by reverse transcriptase polymerase chain reaction (RT-PCR) for the fusion transcript PML-RARA.     ///    Thereafter the PML-RARA transcript was not seen in 20/21 first remission samples in five cases studied.     ///    \"Despite serial negative RT-PCR results, PML-RARA reemerged at or prior to relapse following BMT in the remaining three cases. \"'), ('2795', 'ETO_AML1', 't(8;21)(q22;q22) / t(8;21)  / ', 'ETO', 'AML1', '9432044', '132', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', '396 patients with AML at diagnosis were screened for the presence of t(8;21) and AML1/ETO fusion transcripts by cytogenetic and RT-PCR techniques respectively.     ///    Approximately 12% of all new cases of AML are estimated to have AML1/ETO fusion transcripts and it is suggested that molecular screening should be performed in all cases with the possible exception of the M3 FAB type..     ///    Incidence of AML1/ETO fusion transcripts in patients entered into the MRC AML trials. '), ('2796', 'SET_CAN', 't(6;9)  / ', 'SET', 'CAN', '1308167', '131', 'leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'Surprisingly, a SET-CAN fusion gene was found in leukaemic cells from a patient with AUL.     ///    \"The occurrence of a SET-CAN fusion gene indicates that CAN may be the relevant oncogene involved in leukaemogenesis, and that activation of CAN can be effectuated through fusion of its 3\' part to either DEK or SET. \"'), ('2797', 'PHF1_JAZF1', 't(7;17)(p15;q21) / t(6;7)(p21;p22) / ', 'PHF1', 'JAZF1', '18722875', '131', 'endometrial stromal sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'A JAZF1/PHF1 fusion gene was recently found in two tumors showing an exchange between 6p and 7p rearrangement.     ///    \"In the present study, we show that a low-grade ESS cell line carrying a der(7)t(6;7)(p21;p22) also harbors the a JAZF1/PHF1 fusion. \"    ///    The present cell line constitutes an excellent model for further studies on the impact of the JAZF1/PHF1 fusion..     ///    An endometrial stromal sarcoma cell line with the JAZF1/PHF1 chimera..     ///    \"The predicted 684-amino acid JAZF1/PHF1 chimeric protein retained one zinc finger domain from JAZF1 and the two zinc finger domains from PHF1, and its oncogenic mechanism should be similar to that of the JAZF1/SUZ12 protein. \"'), ('2798', 'PAFAH1B3_CLK2', 't(1;19) / ', 'PAFAH1B3', 'CLK2', '11285245', '131', '', '', 'Kinase', '', '', '', '', 'KB', '', 'Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain.. '), ('2799', 'MLL_AF17', 't(11;17)(q23;q21) / ', 'MLL', 'AF17', '16105757', '131', 'acute myeloid leukemia;myeloid leukemia;leukemia;hematologic malignancy\r\r', 'PCR', '', '', '', '', '', '', '', 'Identification of a chromosomal breakpoint and detection of a novel form of an MLL-AF17 fusion transcript in acute monocytic leukemia with t(11;17)(q23;q21)..     ///    The fact that 2 forms of MLL-AF17 retain the leucine zipper domain of AF17 suggests that the dimerization domain of AF17 is critical for leukemogenesis by the MLL-AF17 fusion gene..     ///    \"On the other hand, there is only 1 report of an MLL-AF17 fusion transcript in acute myeloid leukemia (AML). \"    ///    \"Although the previously reported form of the MLL-AF17 fusion transcript was not detected by reverse transcriptase-polymerase chain reaction (PCR) analysis, a novel form of an MLL-AF17 fusion transcript joining MLL exon 6 to AF17 exon 9 was detected by complementary DNA panhandle PCR. \"'), ('2800', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '18512307', '131', 'leukemia;hypereosinophilic syndrome\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', '(4) Patients with CEL carried the FIP1L1-PDGFRA fusion gene and TCR gamma rearrangement concurrently, their relationship warrants further study..     ///    Detection of the FIP1L1-PDGFRA fusion gene was performed by nested RT-PCR.     ///    The FIP1L1-PDGFRA fusion gene positivity in bone marrow mononuclear cells in 12 cases was identified. '), ('2801', 'BCR_ABL1', 't(9;22)(q34;q11) / t(9;22) / t(10;11)(p13;q14) / ', 'BCR', 'ABL1', '16518848', '131', 'acute myeloid leukemia', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Acute monocytic leukemia with coexpression of minor BCR-ABL1 and PICALM-MLLT10 fusion genes along with overexpression of HOXA9..     ///    P190 BCR-ABL1 is found in the remaining two thirds of t(9;22)-positive adult B-ALL cases but only exceptionally in CML.     ///    RT-PCR enabled identification of PICALM-MLLT10 and BCR-ABL1 e1-a2 fusion transcripts.     ///    This case fits with and extends a recently proposed multistage AML model in which constitutive activation of tyrosine kinases by mutations (BCR-ABL1) are associated with deregulation of transcription factors central to myeloid differentiation (HOXA9 secondary to PICALM-MLLT10)..     ///    The main BCR-ABL1 breakpoints result in P190 BCR-ABL1 or P210 BCR-ABL1 fusion proteins. '), ('2802', 'ETV6_AML1', '', 'ETV6', 'AML1', '15328172', '131', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' TEL (ETV6)-AML1 (RUNX1) chimeric gene fusions are frequent genetic abnormalities in childhood acute lymphoblastic leukemia (ALL).     ///    \"In all of the cases evaluated, the clonal relatedness of diagnostic and relapse cells was confirmed by the retention of clonotypic TEL-AML1 genomic sequence and/or at least one identical immunoreceptor gene rearrangement. \"    ///    \"Moreover, we compared the relatedness of diagnostic and relapse clones using immunoglobulin and T-cell receptor genes rearrangements and clonotypic TEL-AML1 genomic fusion. \"    ///    These data provide further evidence that TEL deletions are secondary to TEL-AML1 fusions in ALL. '), ('2803', 'RUNX1_ETV6', 't(12;21)  / t(12;21)(p13;q22) / t(12;21) / 12p11.21 / 12p13.2 / 12p12.3 / ', 'RUNX1', 'ETV6', '23077088', '131', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'A second abnormality representing duplication of the reciprocal RUNX1-ETV6 fusion gene was a secondary event, which we hypothesize arose through mitotic recombination errors.     ///    Abnormalities of the der(12)t(12;21) in ETV6-RUNX1 acute lymphoblastic leukemia..     ///     ETV6-RUNX1 fusion [t(12;21)(p13;q22)] occurs in 25% of childhood B-cell precursor acute lymphoblastic leukemia (BCP-ALL) and is associated with a favorable outcome.     ///    \"In conclusion, this study has defined novel abnormalities in ETV6-RUNX1 BCP-ALL, which implicate new genes involved in leukemogenesis.. \"    ///    Both abnormalities affect the reciprocal RUNX1-ETV6 fusion product which could either eliminate or amplify its expression and thus contribute to leukemogenesis. '), ('2804', 'RANBP17_HOX11L2', 't(5;14)(q34;q11) / t(5;14)(q33-34;q11) / t(5;14) / t(5;14)  / ', 'RANBP17', 'HOX11L2', '12399963', '131', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'Disruption of the RanBP17/Hox11L2 region by recombination with the TCRdelta locus in acute lymphoblastic leukemias with t(5;14)(q34;q11).. '), ('2805', 'PICALM_MLLT10', 't(9;22)(q34;q11) / t(9;22) / t(10;11)(p13;q14) / ', 'PICALM', 'MLLT10', '16518848', '131', 'acute myeloid leukemia', 'PCR;RT-PCR', '', '', '', '', '', 'KB', 'Seq', 'Acute monocytic leukemia with coexpression of minor BCR-ABL1 and PICALM-MLLT10 fusion genes along with overexpression of HOXA9..     ///    RT-PCR enabled identification of PICALM-MLLT10 and BCR-ABL1 e1-a2 fusion transcripts.     ///    This case fits with and extends a recently proposed multistage AML model in which constitutive activation of tyrosine kinases by mutations (BCR-ABL1) are associated with deregulation of transcription factors central to myeloid differentiation (HOXA9 secondary to PICALM-MLLT10)..     ///    \"We also identified overexpression of HOXA9, a gene essential to myeloid differentiation that is expressed in PICALM-MLLT10 and MLL-rearranged acute leukemias. \"'), ('2806', 'BCL2_IGH', 't(14;18)  / ', 'BCL2', 'IGH', '12748901', '131', 'lymphoproliferative disorder\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'PCR analysis identified cells with a t(14;18) translocation (bcl-2/IgH rearrangement). '), ('2807', 'RARA_PML', 'p13;q21 / t(15;20;17)(q22;p13;q21) / t(15;17) / t(17;20) / t(15;20) / t(15;17)  / ', 'RARA', 'PML', '9494608', '131', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Our results confirmed that the PML/RAR alpha gene on the der(15)t(15;17), not the RAR alpha/PML gene, must be essential to leukemogenesis in APL.     ///    Fluorescence in situ hybridization with cosmid DNA probes flanking the breakpoints of t(15;17) did not show the retinoic acid receptor alpha (RAR alpha)/PML fusion signal usually generated on the der(17)t(15;17). '), ('2808', 'BCL2_IGH', 't(14;18)  / ', 'BCL2', 'IGH', '11108302', '131', 'follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Results of the purging strategy and follow-up of minimal residual disease after transplant were analyzed with PCR amplification of bcl-2/IgH rearrangement for the t(14;18) translocation. '), ('2809', 'PAX3_FKHR', 't(2;13) / t(1;13)  / t(1;13) / ', 'PAX3', 'FKHR', '11556833', '130', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Detection of the PAX3-FKHR fusion gene in paediatric rhabdomyosarcoma: a reproducible predictor of outcome?.     ///    Alveolar histology is associated with the fusion genes PAX3-FKHR and PAX7-FKHR.     ///    \"There were 37 patients with t(2;13)/PAX3-FKHR, 8 with t(1;13) PAX7-FKHR and 46 with neither translocation. \"    ///    Univariate survival analysis revealed the presence of the translocation t(2;13)/PAX3-FKHR to be an adverse prognostic factor.     ///    \"With the difficulties in morphological diagnosis of alveolar rhabdomyosarcoma on increasingly used small needle biopsy specimens, these data suggest that molecular analysis for PAX3-FKHR will be a clinically useful tool in treatment stratification in the future. \"'), ('2810', 'PAX7_FKHR', 't(2;13) / t(1;13)  / t(1;13) / ', 'PAX7', 'FKHR', '11556833', '130', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Alveolar histology is associated with the fusion genes PAX3-FKHR and PAX7-FKHR.     ///    \"There were 37 patients with t(2;13)/PAX3-FKHR, 8 with t(1;13) PAX7-FKHR and 46 with neither translocation. \"    ///    \"Variant t(1;13)/PAX7-FKHR appears biologically different, occurring in younger patients with more localised disease.. \"'), ('2811', 'NUP98_HOXD13', 't(2;11)(q31;p15) / ', 'NUP98', 'HOXD13', '11782354', '130', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'Our results revealed that t(2;11)(q31;p15) was not a single chromosomal abnormality and that the NUP98-HOXD fusion genes encode similar fusion proteins, which suggests that the NUP98-HOXD11 as well as NUP98-HOXD13 fusion protein play a role in leukemogenesis through similar mechanisms.. '), ('2812', 'NUP98_HOXD11', 't(2;11)(q31;p15) / ', 'NUP98', 'HOXD11', '11782354', '130', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', '', 'KB', '', 'Our results revealed that t(2;11)(q31;p15) was not a single chromosomal abnormality and that the NUP98-HOXD fusion genes encode similar fusion proteins, which suggests that the NUP98-HOXD11 as well as NUP98-HOXD13 fusion protein play a role in leukemogenesis through similar mechanisms.. '), ('2813', 'LPP_HMGA2', 't(3;12) / ', 'LPP', 'HMGA2', '16271958', '130', '', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'We analyzed 11 PCHs with a t(3;12)(q27 approximately 28;q14 approximately 15) for the expression of the LPP-HMGA2 fusion transcript.     ///    Expression patterns of the LPP-HMGA2 fusion transcript in pulmonary chondroid hamartomas with t(3;12)(q27 approximately 28;q14 approximately 15)..     ///    q14 approximately 15) in lipomas and pulmonary chondroid hamartomas (PCHs) makes the HMGA2-LPP fusion gene the most frequent fusion gene in human tumors.     ///    \"In a previous study, all of these tumors were shown to express the HMGA2-LPP fusion transcript, composed of exons 1-3 of HMGA2 and exons 9-11 of LPP. \"    ///    \"To our knowledge, this is the first report of the expression of the LPP-HMGA2 fusion transcript in a series of PCHs. \"    ///    \"In a previous study, all of these tumors were shown to express the HMGA2-LPP fusion transcript, composed of exons 1-3 of HMGA2 and exons 9-11 of LPP.\"    ///    \"Thus, based on this one finding, a role of LPP-HMGA2 in PCH should be considered.. \"'), ('2814', 'FUS_CHOP', 't(1;16) / t(12;16)(q13;p11) / t(12;22)(q13;q12) / t(1;16)(q11;q11) / ', 'FUS', 'CHOP', '12876210', '130', 'liposarcoma;ewing sarcoma;sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' In myxoid/round cell liposarcoma, the t(12;16)(q13;p11) and its associated fusion transcript, FUS-CHOP, characterize greater than 95% of cases. '), ('2815', 'TOP1_NUP98', 't(11;20) (p15;q11) / p15;q11 / t(11;20)(p15q11) / ', 'TOP1', 'NUP98', '12645654', '130', 'acute myeloid leukemia', '', '', '', '', '', '', 'KB', '', 'Generation of the NUP98-TOP1 fusion transcript by the t(11;20) (p15;q11) in a case of acute monocytic leukemia..     ///    Reverse transcriptase polymerase chain reaction revealed the NUP98-TOP1 fusion transcript. '), ('2816', 'PAX3_FKHR', 't(2;13) / t(11;22)  / t(21;22) / ', 'PAX3', 'FKHR', '17431644', '130', 'ewing sarcoma;rhabdomyosarcoma;sarcoma;medulloblastoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Standard cytogenetic analyses and RT-PCR testing for the classic gene rearrangements seen in RMS [t(2;13)-PAX3/FKHR] and EWS ([t(11;22) & t(21;22)-EWS/FLI-1 & EWS/ERG), were used for characterization of the MEM, with gene expression microarray analyses on all tumor types. '), ('2817', 'FLI_EWS', 't(2;13) / t(11;22)  / t(21;22) / ', 'FLI', 'EWS', '17431644', '130', 'ewing sarcoma;rhabdomyosarcoma;sarcoma;medulloblastoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Standard cytogenetic analyses and RT-PCR testing for the classic gene rearrangements seen in RMS [t(2;13)-PAX3/FKHR] and EWS ([t(11;22) & t(21;22)-EWS/FLI-1 & EWS/ERG), were used for characterization of the MEM, with gene expression microarray analyses on all tumor types. '), ('2818', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '11797121', '130', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', '', '', '', '', '', '', '', '', 'The leukemia cell morphology alerted us to the possibility of the presence of t(8;21) before cytogenetic results were obtained, and AML1/ETO fusion transcript was detected by reverse transcription polymerase chain reaction. '), ('2819', 'TEL_EVI1', 't(3;12)(q26;p13) / ', 'TEL', 'EVI1', '11835339', '130', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Expression of the TEL/EVI1 fusion transcript in a patient with chronic myelogenous leukemia with t(3;12)(q26;p13)..     ///    We report the first case with Philadelphia (Ph)-positive chronic myelogenous leukemia (CML) expressing the TEL/EVI1 fusion transcript.     ///    \"Reverse transcriptase-polymerase chain reaction detected the TEL/EVI1 transcript without the intervening 5\' non-coding exon of EVI1, suggesting that inappropriate expression of the EVI1 protein driven by the TEL promotor could play a critical role in progression to the blast crisis of CML.. \"'), ('2820', 'NUP98_HOXA9', 't(7;11)(p15;p15) / t(7;11) / t(9;22)(q34;q11) / ', 'NUP98', 'HOXA9', '10848835', '130', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Expression of the NUP98/HOXA9 fusion transcript in the blast crisis of Philadelphia chromosome-positive chronic myelogenous leukaemia with t(7;11)(p15;p15)..     ///    We report the first case with CML expressing the NUP98/HOXA9 fusion transcript.     ///    \"Reverse transcriptase polymerase chain reaction identified the NUP98/HOXA9 transcript, suggesting that the NUP98/HOXA9 fusion protein could play a critical role in the progression to blast crisis.. \"'), ('2821', 'TEL_AML1', 'del(12p)  / ', 'TEL', 'AML1', '19047175', '130', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Assessment of six archived neonatal blood cards indicated that no del(12p) rearrangements backtracked to birth, although two of these patients were previously positive for TEL-AML1 using the same assay with comparable sensitivity.     ///    \"These data are compatible with a two-stage natural history: TEL-AML1 occurs prenatally, and del(12p) occurs postnatally in more mature cells with a structure that suggests the involvement of retrotransposon instability.. \"    ///    \"Nontemplate nucleotides were also more frequent in del(12p) than in TEL-AML1 junctions (P=0.004), suggesting formation by terminal deoxynucleotidyl transferase. \"    ///    \" TEL-AML1 (ETV6-RUNX1) is the most common translocation in the childhood leukemias, and is a prenatal mutation in most children. \"    ///    Chromosome 12p deletions in TEL-AML1 childhood acute lymphoblastic leukemia are associated with retrotransposon elements and occur postnatally..     ///    \"An exploratory assessment of archived neonatal blood cards revealed significantly more long interspersed nuclear element CpG methylations in individuals at birth who were later diagnosed with TEL-AML1 leukemia, compared with individuals who did not contract leukemia (P=0.01). \"    ///    \"This stands in contrast with TEL-AML1, in which only 21 of 110 previously assessed breakpoints (19%) occur in DNA repeats (P=0.0001). \"'), ('2822', 'EWS_ERG', 't(2;13) / t(11;22)  / t(21;22) / ', 'EWS', 'ERG', '17431644', '130', 'ewing sarcoma;rhabdomyosarcoma;sarcoma;medulloblastoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Standard cytogenetic analyses and RT-PCR testing for the classic gene rearrangements seen in RMS [t(2;13)-PAX3/FKHR] and EWS ([t(11;22) & t(21;22)-EWS/FLI-1 & EWS/ERG), were used for characterization of the MEM, with gene expression microarray analyses on all tumor types. '), ('2823', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23086769', '130', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', ' ERG rearrangements (most commonly transmembrane protease, serine 2 [TMPRSS2]:ERG [T2:ERG] gene fusions) have been identified in approximately 50% of prostate cancers .     ///    Correlation of urine TMPRSS2:ERG and PCA3 to ERG+ and total prostate cancer burden.. '), ('2824', 'STAT5B_RARA', '', 'STAT5B', 'RARA', '27148563', '130', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Additional analysis using a custom next-generation sequencing assay revealed a rearrangement producing a STAT5B-RARA fusion gene, which was confirmed by reverse transcription polymerase chain reaction (RT-PCR) and supplementary cytogenetic studies, allowing the diagnosis of a morphologically atypical form of acute promyelocytic leukemia to be made.     ///    Myeloid neoplasm demonstrating a STAT5B-RARA rearrangement and genetic alterations associated with all-trans retinoic acid resistance identified by a custom next-generation sequencing assay.. '), ('2825', 'ETO_AML1', 't(8;21) / t(8;21)  / ', 'ETO', 'AML1', '12357359', '130', 'acute myeloid leukemia;myeloid leukemia;leukemia;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Molecular analysis detected the AML1-ETO fusion transcript in all 25 cases with the t(8;21) tested, but failed to identify additional cases with AML1-ETO among the 127 cases with other cytogenetic findings. '), ('2826', 'ETO_AML1', 't(8;21)  / t(8;21) / ', 'ETO', 'AML1', '8427996', '130', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'Detection of DNA rearrangements in the AML1 and ETO loci and of an AML1/ETO fusion mRNA in patients with t(8;21) acute myeloid leukemia.. '), ('2827', 'MYH11_CBFB', 'inv(16)(p13q22) / t(16;16)(p13;q22) / ', 'MYH11', 'CBFB', '11920247', '129', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Both aberrations result in a CBFB-MYH11 fusion gene that can be detected by RT-PCR.     ///    \"To date, a total of 10 different in-frame CBFB-MYH11 fusion transcripts have been identified. \"    ///    \"Because all previously established RT-PCR protocols may miss the new CBFB-MYH11 transcript, we propose to use the improved RT-PCR approach described here for the reliable detection of all known CBFB-MYH11 fusion transcripts.. \"    ///    \"We describe here a robust two-step RT-PCR assay that reliably detects all known CBFB-MYH11 transcripts types, including the new variant. \"    ///    Identification of a novel CBFB-MYH11 transcript: implications for RT-PCR diagnosis.. '), ('2828', 'MNX1_ETV6', 't(7;12)(q36;p13) / del(12)(p12p13) / ', 'MNX1', 'ETV6', '18940475', '129', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', '', 'MNX1-ETV6 fusion transcripts (previously HLXB9-ETV6) were rarely detected in AML patients having t(7;12)(q36;p13).     ///    Reverse transcriptase-polymerase chain reaction (RT-PCR) followed by sequence analysis revealed the presence of an MNX1-ETV6 fusion gene.     ///    MNX1-ETV6 fusion gene in an acute megakaryoblastic leukemia and expression of the MNX1 gene in leukemia and normal B cell lines..     ///    This represents a novel case of an AMKL patient with MNX1-ETV6 fusion transcripts who had a good prognosis.. '), ('2829', 'RARA_PLZF', 't(15;17)  / t(11;17)(q23;q21) / t(5;17)(q35;q12-21) / t(11;17)(q13;q21) / ', 'RARA', 'PLZF', '22205181', '129', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'Acute promyelocytic leukemia associated with the PLZF-RARA fusion gene: two additional cases with clinical and laboratorial peculiar presentations..     ///    \"This paper describes two cases of APL associated with the PLZF-RARA fusion gene enrolled in the IC-APL trial that is a non-randomized, multicenter study conducted in Brazil, Mexico, Chile and Uruguay with the aim to improve the treatment outcome of APL patients in developing countries. \"'), ('2830', 'EWS_ERG', 't(11;22)(q24;q12) / t(2;22)(p25;q12) / ', 'EWS', 'ERG', '11474174', '128', 'ewing tumor\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', ' In contrast to the EWS/FLI1 fusion which is represented by a t(11;22)(q24;q12), EWS/ERG fusions are frequently cytogenetically not detectable.     ///    EWS/ERG transcripts were detected by RT-PCR in all cases.     ///    Fine-mapping of cytogenetically undetectable EWS/ERG fusions on DNA fibers of Ewing tumors..     ///    This finding suggests that EWS/ERG fusions in ETs may be generated by an inversion of the ERG gene or a part thereof followed by an insertion into the EWS gene on the der(22).     ///    \"In contrast, co-hybridization of probe PT1526 containing the ERG breakpoint region with G9 revealed the juxtaposition of two signals per interphase nucleus in all three cases indicating the EWS/ERG fusions. \"'), ('2831', 'RARA_PML', 't(15;17) / t(15;17)  / ', 'RARA', 'PML', '8296791', '128', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Detection of PML-retinoic acid receptor-alpha fusion transcripts in acute promyelocytic leukemia with trisomy 8 but without t(15;17).. '), ('2832', 'HES_CEL', 'del(4)(q12q12) / ', 'HES', 'CEL', '16502585', '128', 'leukemia;hypereosinophilic syndrome\r\r', '', '', '', '', '', '', '', '', 'We recently identified the FIP1L1-PDGFRA fusion gene in approx 50% of HES/CEL cases.     ///    \"In agreement with this, most patients with HES/CEL present with a normal karyotype. \"'), ('2833', 'PDGFRA_FIP1L1', 'del(4)(q12q12) / ', 'PDGFRA', 'FIP1L1', '16502585', '128', 'leukemia;hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We recently identified the FIP1L1-PDGFRA fusion gene in approx 50% of HES/CEL cases.     ///    Here we describe three different techniques to detect the presence of the FIP1L1-PDGFRA fusion gene in peripheral blood or bone marrow cells..     ///    Detection of the FIP1L1-PDGFRA fusion in idiopathic hypereosinophilic syndrome and chronic eosinophilic leukemia.. '), ('2834', 'E47_E12', 't(1;19)  / 19p13.2 / t(1;19)(q23;p13) / ', 'E47', 'E12', '2799390', '128', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The gene (E2A) that codes for proteins with the properties of immunoglobulin enhancer binding factors E12/E47 was mapped to chromosome region 19p13.2-p13.3, a site associated with nonrandom translocations in acute lymphoblastic leukemias.     ///    The gene for enhancer binding proteins E12/E47 lies at the t(1;19) breakpoint in acute leukemias.. '), ('2835', 'YY1_EWSR1', 't(14;22)(q32;q12) / ', 'YY1', 'EWSR1', '23630070', '127', 'mesothelioma', '', '', '', '', '', '', 'KB', '', 'Screening 15 additional cases of mesothelioma from which we had RNA but no cytogenetic information, we identified one more tumor carrying an EWSR1-YY1 fusion gene but not the reciprocal YY1-EWSR1 transcript.     ///    \"In this study, we used RNA sequencing to search for fusion transcripts in a mesothelioma carrying a t(14;22)(q32;q12) as the sole chromosomal aberration and found an EWSR1-YY1 and its reciprocal YY1-EWSR1 fusion transcript. \"    ///    This is the first study to detect a specific fusion gene in mesothelioma (the reason how frequent the EWSR1-YY1 fusion is remains uncertain) and also the first time that direct involvement of YY1 in oncogenesis has been demonstrated..     ///    \"The EWSR1 breakpoint in exon 8 in the EWSR1-YY1 chimeric transcript is similar to what is found in other fusions involving EWSR1 such as EWSR1-FLI1, EWSR1-DDIT3, and EWSR1-ATF1. \"    ///    \"The EWSR1 breakpoint in exon 8 in the EWSR1-YY1 chimeric transcript is similar to what is found in other fusions involving EWSR1 such as EWSR1-FLI1, EWSR1-DDIT3, and EWSR1-ATF1.\"'), ('2836', 'MYST3_CREBBP', 't(8;16)(p11;p13) / ', 'MYST3', 'CREBBP', '16849538', '127', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', '', 'We have analyzed the gene expression profile of 23 AML patients, including three with molecularly confirmed MYST3-CREBBP fusion gene, using oligonucleotide U133A arrays (Affymetrix).     ///    Gene expression profiling of acute myeloid leukemia with translocation t(8;16)(p11;p13) and MYST3-CREBBP rearrangement reveals a distinctive signature with a specific pattern of HOX gene expression..     ///    \"MYST3-CREBBP cases clustered together and clearly differentiated from samples with PML-RARalpha, RUNX1-RUNX1T1, and CBFbeta-MYH11 rearrangements. \"    ///    \"The relative expression of 46 genes, selected according to their differential expression in the high-density array study, was analyzed by low-density arrays in an additional series of 40 patients, which included 7 MYST3-CREBBP AML cases. \"    ///    \"Thus, genes such as prolactin (PRL) and proto-oncogene RET were confirmed to be specifically overexpressed in MYST3-CREBBP samples whereas genes such as CCND2, STAT5A, and STAT5B were differentially underexpressed in this AML category. \"    ///    \"In summary, this study shows the distinctive gene expression profile of MYST3-CREBBP AML, with overexpression of RET and PRL and a specific pattern of HOX gene expression.. \"    ///    \"Interestingly, MYST3-CREBBP AML exhibited a characteristic pattern of HOX expression, with up-regulation of HOXA9, HOXA10, and cofactor MEIS1 and marked down-regulation of other homeobox genes. \"'), ('2837', 'RARA_PML', 't(15;17) (q22;q21) / t(15;17) / ', 'RARA', 'PML', '9002938', '127', 'acute myeloid leukemia', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'this translocation fuses the PML gene on chromosome 15 to the retinoic acid receptor alpha (RAR alpha) gene on chromosome 17, creating two novel fusion genes, PML-RAR alpha and RAR alpha-PML. '), ('2838', 'FUS_CREB3L1', 't(7;16) (q32-34;p11) / ', 'FUS', 'CREB3L1', '15640831', '127', 'sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Clinicopathologic and molecular genetic characterization of low-grade fibromyxoid sarcoma, and cloning of a novel FUS/CREB3L1 fusion gene..     ///    \"Taken together, the results indicate that virtually all LGFMS are characterized by a chimeric FUS/CREB3L2 gene, and that rare cases may display a variant FUS/CREB3L1 fusion.. \"    ///    \"Taken together, the results indicate that virtually all LGFMS are characterized by a chimeric FUS/CREB3L2 gene, and that rare cases may display a variant FUS/CREB3L1 fusion..\"    ///    \"Thus, it is expected that the novel FUS/CREB3L1 chimera will have a similar impact at the cellular level as the much more common FUS/CREB3L2 fusion protein. \"'), ('2839', 'MTG8_AML1', 't(8;21)  / t(16;21)  / ', 'MTG8', 'AML1', '10675041', '127', 'myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', ' AML1-MTG8 fusion protein, which is produced from the rearranged gene formed between AML1 and MTG8 in myeloid leukemia with t(8;21) chromosomal translocation, plays an important role in the pathogenesis of leukemia. '), ('2840', 'NTRK3_ETV6', 't(12;15)(p13;q25) / ', 'NTRK3', 'ETV6', '14578034', '127', 'fibrosarcoma;sarcoma\r\r', '', 'Kinase', '', '', '', '', 'KB', 'Seq', 'The presence of the t(12;15)(p13;q25) and the fusion transcript ETV6-NTRK3 by RTPCR facilitated the diagnosis.. '), ('2841', 'MLL_EP300', 't(11;22)(q23;q13) / ', 'MLL', 'EP300', '20980053', '127', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Novel variant form of t(11;22)(q23;q13)/MLL-EP300 fusion transcript in the evolution of an acute myeloid leukemia with myelodysplasia-related changes.. '), ('2842', 'SYT_SSX2', 'p11.2;q11.2 / ', 'SYT', 'SSX2', '12201571', '127', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'A rare synovial sarcoma of the kidney exhibiting translocation (X;18) and SYT-SSX2 fusion gene.. '), ('2843', 'TEL_AML1', 't(12;21)(p13;q22) / ', 'TEL', 'AML1', '15156184', '127', '', '', '', '', '', '', '', '', '', 'Role of the TEL-AML1 fusion gene in the molecular pathogenesis of childhood acute lymphoblastic leukaemia..     ///    \"We discuss here the prenatal origins of the TEL/AML1 translocation as an initiating mutation, the role of TEL-AML1 in cellular transformation and the molecular mechanisms by which the chimeric protein imposes altered patterns of gene expression.. \"'), ('2844', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '8857943', '127', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' The chromosomal translocation (8;21)(q22;q22) in the AML M2 subtype according to the FAB classification, results in the production of a novel fusion gene AML1/ETO.     ///    \"Recently, several studies on the detection of AML1/ETO transcripts in t(8;21) AML have been reported. \"    ///    We conclude that the detection of the presence of cells with AML1/ETO fusion transcripts by our RT-competitive PCR assay may be useful to monitor disease progression and to predict subsequent relapse..     ///    \"However, the clinical significance of a small number of AML1/ETO transcripts by a reverse transcription-polymerase chain reaction (RT-PCR) remains to be elucidated. \"    ///    The chimaeric AML1/ETO transcript is useful for the detection of minimal residual disease (MRD). '), ('2845', 'TEL_AML1', 't(12;21) (p12;q22) / t(9;22) (q34;q11) / ', 'TEL', 'AML1', '17277849', '127', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The fusion genes TEL/AML1 y BCR/ABL, generated by these translocations, can be easily detected using molecular biology technique.     ///    TEL/AML1 y BCR/ABL fusion genes were detected in bone marrow samples using a reverse transcriptase nested polymerase chain reaction (RT-PCR).     ///    No differences in survival were observed between children with positive or negative transcripts for TEL/AML1 fusion gene.     ///    The frequency of TEL/AML1 and BCR/ABL fusion gene transcripts in these children with ALL is similar to that described by other authors..     ///    [Frequency of TEL/AML1 and BCR/ABL fusion genes in children with acute lymphoblastic leukemia]..     ///    To study the frequency of TEL/AML1 y BCR/ABL fusion genes in children with ALL. '), ('2846', 'MLL_ELL', 't(11;19)  / ', 'MLL', 'ELL', '19405140', '127', 'acute myeloid leukemia;myeloid leukemia;leukemia;disseminated intravascular coagulation\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'A bone marrow examination confirmed the diagnosis of acute monocytic leukemia with a t(11;19) MLL-ELL fusion transcript. '), ('2847', 'FGFR1_CEP1', 't(8;9)(p11;q33) / t(8;9)  / ', 'FGFR1', 'CEP1', '16879608', '127', '', '', 'Kinase', '', '', '', '', '', '', 'The karyotype was 46,XX,t(8;9)(p11;q33)[20] and the CEP1/FGFR1 fusion transcript between CEP1 exon 38 and FGFR1 exon 9 was detected.     ///    A biphenotypic transformation of 8p11 myeloproliferative syndrome with CEP1/FGFR1 fusion gene.. '), ('2848', 'RCSD1_ABL1', 't(1;9)(q24;q34) / ', 'RCSD1', 'ABL1', '19794096', '127', 'lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'A novel dasatinib-sensitive RCSD1-ABL1 fusion transcript in chemotherapy-refractory adult pre-B lymphoblastic leukemia with t(1;9)(q24;q34).. '), ('2849', 'MYH11_CBFB', 'inv(16) / ', 'MYH11', 'CBFB', '25786458', '127', 'uterine cervical cancer', '', '', '', '', '', '', '', '', ' A 40-year-old woman developed therapy-related acute myeloid leukemia (t-AML) with inv(16)(p13.1q22) and a rare type D form of core-binding factor ?-subunit gene-myosin heavy chain 11 gene (CBFB-MYH11) fusion transcript approximately 2.5 years after receiving chemoradiotherapy for uterine cervical cancer.     ///    \"t-AML with inv(16)(p13.1q22) and rare non-type A CBFB-MYH11 typically develops after exposure to a topoisomerase II inhibitor, with a short period of latency of one to five years. \"'), ('2850', 'RUNX1_PRDM16', 't(1;21)(p36;q22) / ', 'RUNX1', 'PRDM16', '16598304', '127', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Identification of truncated RUNX1 and RUNX1-PRDM16 fusion transcripts in a case of t(1;21)(p36;q22)-positive therapy-related AML.. '), ('2851', 'SKI_PRDM16', 'del(5q)  / ', 'SKI', 'PRDM16', '24673627', '127', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'Whole transcriptome sequencing of a paediatric case of de novo acute myeloid leukaemia with del(5q) reveals RUNX1-USP42 and PRDM16-SKI fusion transcripts.. '), ('2852', 'TEL_AML1', 't(12;21)(p13;q22) / t(8;21)  / t(3;21) / ', 'TEL', 'AML1', '9652733', '127', 'acute lymphoblastic leukemia;myeloid leukemia;lymphoblastic leukemia\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' The TEL/AML1 fusion associated with t(12;21)(p13;q22) is the most common gene rearrangement in childhood malignancy, occurring in approximately 25% of pediatric acute lymphoblastic leukemia.     ///    The TEL/AML1 fusion does not occur in children with AML and suggests that the TEL/AML1 rearrangement is restricted in pediatric hematologic malignancy to B lineage ALL..     ///    The TEL/AML1 rearrangement is cryptic at the cytogenetic level but confers a favorable prognosis.     ///    An RT-PCR assay was then used to test for the presence of the TEL/AML1 fusion.     ///    Lack of TEL/AML1 fusion in pediatric AML: further evidence for lineage specificity of TEL/AML1..     ///    Zero out of 29 pediatric AML patients had evidence for the TEL/AML1 fusion by RT-PCR.     ///    We have therefore determined the frequency of the TEL/AML1 fusion in pediatric myeloid leukemias by RT-PCR analysis. '), ('2853', 'NUP98_HOXC', 't(11;12)(p15;q13) / t(11;12) / ', 'NUP98', 'HOXC', '12461755', '127', 'acute myeloid leukemia;myeloid leukemia;leukemia;hematologic malignancy\r\r', 'PCR;ISH', '', '', '', '', '', '', '', 'Fluorescence in situ hybridization analyses, by the use of probes covering NUP98 and the HOXC gene cluster at 12q13, revealed a fusion signal at the der(11)t(11;12), indicating a NUP98/HOXC chimera, whereas no fusion was found on the der(12)t(11;12), suggesting that the translocation was accompanied by a deletion of the reciprocal fusion gene. '), ('2854', 'MOZ_CBP', 't(1;16;8)(p13;p13;p11) / t(8;16)(p11;p13) / ', 'MOZ', 'CBP', '18698081', '127', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Two novel variants of MOZ-CBP fusion transcripts in spontaneously remitted infant leukemia with t(1;16;8)(p13;p13;p11), a new variant of t(8;16)(p11;p13).. '), ('2855', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '24413735', '127', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' The ETV6-RUNX1 fusion gene, found in 25% of childhood acute lymphoblastic leukemia (ALL) cases, is acquired in utero but requires additional somatic mutations for overt leukemia.     ///    RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia.. '), ('2856', 'IGH_BCL2', 't(14;18)  / ', 'IGH', 'BCL2', '15714059', '127', 'follicular lymphoma;B cell lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' The translocation t(14;18) resulting in fusion of the BCL2 and the immunoglobulin heavy chain genes (BCL2-IGH) is present in 80% to 90% of follicular lymphomas and 20% to 30% of diffuse large B-cell lymphomas.     ///    \"With significantly improved analytic specificity, one round of PCR is sufficient to detect the BCL2-IGH gene rearrangements without further confirmation.. \"    ///    Detection of BCL2-IGH using single-round PCR assays..     ///    \"To simplify the BCL2-IGH assay procedure, we attempted to eliminate the nonspecific PCR products by optimizing the annealing temperatures of the PCR assays using a gradient thermocycler. \"'), ('2857', 'BCR_ABL1', 't(9;22;17)(q34;q11;q21) / ', 'BCR', 'ABL1', '26991870', '127', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'An e13a3 BCR-ABL1 fusion transcript in variant t(9;22;17)(q34;q11;q21)-positive adult acute lymphoblastic leukemia.. '), ('2858', 'DEK_CAN', 't(6;9)  / ', 'DEK', 'CAN', '9009096', '127', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Loss of the DEK-CAN fusion transcript in a child with t(6;9) acute myeloid leukemia following chemotherapy and allogeneic bone marrow transplantation.. '), ('2859', 'RUNX1T1_RUNX1', 't(8;21) / ', 'RUNX1T1', 'RUNX1', '23528260', '127', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', ' The aim of this study was to evaluate effect of c-KIT mutations on RUNX1/RUNX1T1 fusion transcript expression in patients with t(8;21)-positive AML.     ///    Effects of c-KIT mutations on expression of the RUNX1/RUNX1T1 fusion transcript in t(8;21)-positive acute myeloid leukemia patients..     ///    Patients with c-KIT mutations tended to achieve a greater than 3-log reduction in RUNX1/RUNX1T1 fusion transcript expression less frequently than patients without mutations from 6 to 12 months of follow-up. '), ('2860', 'IMMP2L_DOCK4', 'chr7:110 / ', 'IMMP2L', 'DOCK4', '20346443', '127', '', '', '', '', '', '', '', '', 'Seq', 'The maternally inherited microdeletion encompassed chr7:110,663,978-111,257,682 and led to a DOCK4-IMMP2L fusion transcript. '), ('2861', 'NUP98_HOXD11', 't(2;11)(q31;p15) / ', 'NUP98', 'HOXD11', '12542486', '127', '', '', '', 'Oncogene', '', '', '', 'KB', '', 'We report successful treatment of a 15-year-old Japanese boy with acute myelomonocytic leukaemia having t(2;11)(q31;p15) and a novel fusion transcript, NUP98-HOXD11.     ///    Successful treatment of acute myelomonocytic leukaemia with NUP98-HOXD11 fusion transcripts and monitoring of minimal residual disease.. '), ('2862', 'ETO_AML1', 't(8;21) / t(8;20)(q22;q13) / t(8;20;21)(q22;q13;q22) / ', 'ETO', 'AML1', '9460498', '127', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Molecular analysis of the marrow mononuclear cells by reverse transcription-polymerase chain reaction with nested AML1 and ETO primers showed amplification of the AML1/ETO fusion transcript, thus confirming that the chromosomal aberration was in fact a masked t(8;21), i.e., variant t(8;20;21)(q22;q13;q22).. '), ('2863', 'IGH_BCL2', 't(9;22)(q34;q11) / ', 'IGH', 'BCL2', '2202261', '127', 'leukemia\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Among many kinds of tumor specific gene translocations, BCR-ABL gene in t(9;22)(q34;q11) and BCL-2-IgH gene in t(14:18)(q32;q21) have been successfully PCR-amplified around their fused regions. '), ('2864', 'MYH11_CBFB', 'inv(16) / t(16;16)  / inv(16)(p13q22) / t(16;16)(p13;q22) / ', 'MYH11', 'CBFB', '23160462', '127', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The inv(16)(p13q22)/t(16;16)(p13;q22) in acute myeloid leukemia results in multiple CBFB-MYH11 fusion transcripts, with type A being most frequent.     ///    \"We analyzed CBFB-MYH11 fusion types in 208 inv(16)/t(16;16) patients with de novo disease, and compared clinical and cytogenetic features and the KIT mutation status between type A (n = 182. \"    ///    inv(16)/t(16;16) acute myeloid leukemia with non-type A CBFB-MYH11 fusions associate with distinct clinical and genetic features and lack KIT mutations.. ');
INSERT INTO `ChimerPub_dump` VALUES ('2865', 'RAI1_PMP22', '17p11.2 / ', 'RAI1', 'PMP22', '26544804', '127', 'Charcot-Marie-Tooth disease;polyneuropathy', '', '', '', '', '', '', '', '', 'Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome..     ///    Our genomic analysis suggests replicative mechanisms as a predominant mechanism underlying PMP22-RAI1 contiguous gene duplications and provides further evidence supporting the role of complex genomic architecture in genomic instability. '), ('2866', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '12969821', '127', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Prognostic significance of the AML1-ETO fusion transcript expression in children and young adults with t(8;21) acute myeloid leukemia.. '), ('2867', 'RARA_GTF2I', 't(7;17)  / ', 'RARA', 'GTF2I', '25284716', '127', '', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'GTF2I-RARA is a novel fusion transcript in a t(7;17) variant of acute promyelocytic leukaemia with clinical resistance to retinoic acid.. '), ('2868', 'BCR_ABL1', '', 'BCR', 'ABL1', '8908171', '127', 'myeloproliferative disorder\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' We have performed the molecular analysis for the detection of the BCR-ABL and ABL-BCR fusion genes in 50 patients with myeloproliferative disorders.     ///    Six CML patients (46%) showed ABL-BCR amplifications of the Ib-BCR type. '), ('2869', 'MYH11_CBFB', 't(16;16) (p13;q22) / inv(16)(p13q22) / t(16;16)(p13;q22) / ', 'MYH11', 'CBFB', '24342433', '127', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'We report a case of acute myeloid leukemia with a balanced t(16;16)(p13;q22) and additional monosomy 13 showing a new CBFB-MYH11 fusion transcript variant.     ///    \" Acute myeloid leukemia (AML) cases with inv(16)(p13q22) or t(16;16)(p13;q22) are characterized by multiple CBFB-MYH11 fusion transcripts, type A being the most frequent. \"    ///    Acute myeloid leukemia with t(16;16) (p13;q22) showing a new CBFB-MYH11 fusion transcript associated with an atypical leukemic blasts morphology.. '), ('2870', 'USP42_RUNX1', 'del(5q)  / ', 'USP42', 'RUNX1', '24673627', '127', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', 'Seq', 'Whole transcriptome sequencing of a paediatric case of de novo acute myeloid leukaemia with del(5q) reveals RUNX1-USP42 and PRDM16-SKI fusion transcripts.. '), ('2871', 'TEL_AML1', 't(12;21)  / ', 'TEL', 'AML1', '12621238', '127', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Prognostic significance of the TEL-AML1 fusion gene in pediatric acute lymphoblastic leukemia in Turkey..     ///    The authors investigated the incidence and prognostic significance of the TEL-AML1 fusion gene in patients with ALL in Turkey.     ///    The TEL-AML1 fusion transcript was detected in 20.1% (44/219) of newly diagnosed children with ALL.     ///    \"This translocation fuses two genes, TEL and AML1, and results in the production of the TEL-AML1 fusion protein. \"'), ('2872', 'TEL_AML1', 't(12;21)  / t(12;21) / ', 'TEL', 'AML1', '11378579', '127', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', '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.     ///     The TEL-AML1 fusion which results from a cryptic t(12;21) translocation is the most frequently occurring genetic abnormality in childhood acute lymphoblastic leukemia (ALL) and has been associated with an excellent treatment outcome.     ///    Chemosensitivity of TEL-AML1 fusion transcript positive acute lymphoblastic leukemia cells..     ///    \"TEL-AML1(+) ALL cells were more sensitive to the apoptosis-inducing effects of serum deprivation, dexamethasone and vincristine than TEL-AML1(-) ALL cells. \"    ///    \"TEL-AML1(+) ALL cells expressed higher levels of the pro-apoptotic protein Fas and lower levels of the anti-apoptotic protein Bcl2 than TEL-AML1(-) ALL cells, as determined by confocal laser scanning microscopy. \"    ///    This study provides novel mechanistic insights regarding the chemosensitivity of TEL-AML1(+) ALL cells and provides a cogent explanation for the excellent leukemia-free survival outcome of children with TEL-AML1(+) ALL treated on contemporary chemotherapy programs.. '), ('2873', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '9376607', '127', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Detection of AML1/ETO fusion transcripts in patients with t(8;21) acute myeloid leukemia after allogeneic bone marrow transplantation or peripheral blood progenitor cell transplantation.. '), ('2874', 'BCR_ABL1', '7p12.1 / ', 'BCR', 'ABL1', '20013897', '127', 'acute myeloid leukemia;acute lymphoblastic leukemia;chronic myeloid leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', '13/27 (48%) patients with the instability had the BCR/ABL1 fusion gene or other oncogene-activating translocation or structural aberrations.     ///    \"These findings suggest that, in ALL leukemogenesis, loss of CDKN2A and other target genes in the instability region is frequently associated with BCR/ABL1 and IKZF1 dysfunction. \"'), ('2875', 'BCR_ABL1', 't(9;22)(q34;q11) / ', 'BCR', 'ABL1', '11672777', '127', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Because this translocation is a reciprocal event, it could give rise to a second fusion gene, ABL-BCR, on the derivative 9q+.     ///    The absence of differences between the patients with and without 3\' BCR deletion supports the hypothesis that the hybrid gene ABL-BCR does not have an important role in leukemogenesis in CML cases.. '), ('2876', 'TIF2_MOZ', 'inv(8)(p11q13) / inv(8) (p11q13) / ', 'TIF2', 'MOZ', '17805042', '127', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Childhood acute myeloid leukemia with hemophagocytosis by the blasts and inv(8)(p11q13) with MOZ-TIF2 fusion transcripts..     ///    \"To our knowledge, this is the eighth overall and the fourth childhood case of acute myeloid leukemia with inv(8) (p11q13) with MOZ-TIF2 fusion.. \"    ///    Reverse-transcription polymerase chain reaction showed the presence of 2 MOZ-TIF2 fusion transcripts. '), ('2877', 'EWS_CHOP', 't(12;16)(q13;p11) / t(12;22)(q13;q12) / ', 'EWS', 'CHOP', '16884691', '126', 'liposarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'A novel type of EWS-CHOP fusion gene in myxoid liposarcoma..     ///    \"Nine structural variations of the TLS/FUS-CHOP chimeric transcript have been reported, however, only two types of EWS-CHOP have been described. \"    ///    We describe here a case of myxoid liposarcoma containing a novel EWS-CHOP chimeric transcript and identified the breakpoint occurring in intron 13 of EWS. '), ('2878', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '20693979', '126', 'prostate cancer\r\r', 'RT-PCR', '', '', '', '', '', 'KB', 'Seq', ' The incidence and clinical significance of the TMPRSS2:ERG gene fusion in prostate cancer has been investigated with contradictory results.     ///    Total RNA from 194 formalin-fixed and paraffin-embedded prostate cancer samples obtained by radical prostatectomy was subjected to reverse-transcriptase polymerase chain reaction to detect the common TMPRSS2:ERG T1-E4 and T1-E5 fusion transcripts and five other non-TMPRSS2:ERG fusion transcripts.     ///    \"To exclude the possibility that Japanese prostate cancer displays novel TMPRSS2:ERG transcript variants or has unique 5\' fusion partners for the ETS genes, we performed 5\' RACE using fresh-frozen prostate cancer samples. \"    ///    Internodular heterogeneity of TMPRSS2:ERG was observed in 5 out of 11 multifocal cases (45%).     ///    \"The frequencies of both TMPRSS2:ERG- and non-TMPRSS2:ERG-positive cases were lower than those reported for European, North American or Brazilian patients. \"    ///    \"We identified 54 TMPRSS2:ERG-positive cases (54/194, 28%) and two HNRPA2B1:ETV1-positive cases (2/194, 1%). \"    ///    \"Because we identified a relatively low frequency of TMPRSS2:ERG and other fusions, further evaluation is required before this promising molecular marker should be introduced into the management of Japanese prostate cancer patients.. \"'), ('2879', 'TAL1_SIL', '', 'TAL1', 'SIL', '8640718', '126', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', '', '', '', 'Transcription_Factor', '', '', ' Two types of markers, namely the clone-specific markers including T-cell receptor (TCR) gamma, TCR delta, and Ig heavy-chain (IgH) gene rearrangements, and malignancy-specific fusion gene mRNA such as SIL-TAL-1, BCR-ABL, and HRX-partner genes, were investigated by molecular biology techniques in 65 Chinese patients with acute lymphoblastic leukemia (ALL). '), ('2880', 'NUP98_HOXA9', 't(7;11)(p15;p15) / ', 'NUP98', 'HOXA9', '11241795', '126', 'myelodysplastic syndrome;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'As expected, analysis of the t(7;11)(p15;p15) from one of the patients showed an in-frame NUP98-HOXA9 fusion.     ///    The fusion points were similar to previously reported NUP98-HOXA9 fusion points from patients with MDS/AML. '), ('2881', 'ETO_AML1', 't(8;21) (q22;q22) / t(8;21)  / t(5;8;21) / ', 'ETO', 'AML1', '9619731', '126', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' The chromosomal translocation t(8;21) (q22;q22) is often associated with acute myeloid leukemia with maturation (AML-M2) and can be detected by a reverse transcription-polymerase chain reaction (RT-PCR) for the AML1/ETO fusion mRNA.     ///    AML1/ETO was also detected in two AML patients lacking the t(8;21) cytogenetically.     ///    We investigated the prevalence of t(8;21) and AML1/ETO in 204 unselected patients with AML and compared the results of cytogenetic analysis with these of RT-PCR.     ///    In 17 of 204 patients (8.3%) AML1/ETO was detected by RT-PCR.     ///    Comparison of karyotype analysis and RT-PCR for AML1/ETO in 204 unselected patients with AML..     ///    \"These data indicate that the results of karyotyping and RT-PCR are not completely identical, and molecular biology identifies approximately an additional 5-10% of AML1/ETO positive cases. \"'), ('2882', 'CALM_AF10', 't(10;11)(p13;q14) / ', 'CALM', 'AF10', '8643484', '126', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', '', '', '', '', '', '', '', '', 'The identification of the CALM/AF10 fusion gene in the widely used U937 cell line will contribute to our understanding of the malignant phenotype of this line.. '), ('2883', 'FLI_EWS', '', 'FLI', 'EWS', '7656205', '126', 'anaplastic large cell lymphoma;non Hodgkin lymphoma;lymphoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Molecular genetic detection of EWS/FLI-1 fusion gene expression in the second tumor by RT-PCR unambiguously confirmed the histopathologic diagnosis of Ewing tumor (ET), whereas no evidence for the presence of this specific gene rearrangement was obtained in a retrospective analysis of the lymphoma tissue. '), ('2884', 'MLL_ELL', 't(9;11)(p21-22;q23) / t(11;19)(q23;p13) / t(6;11)(q27;q23) / ', 'MLL', 'ELL', '21351416', '126', '', '', '', '', '', '', '', 'KB', 'Seq', 'q23)/MLL-AF10, t(11;19)(q23;p13)/MLL-ELL, ENL and t(6;11)(q27;q23)/MLL-AF6. '), ('2885', 'SYT_SSX', 't(11;22)  / t(2;13)  / ', 'SYT', 'SSX', '14518398', '126', 'synovial sarcoma;ewing sarcoma;rhabdomyosarcoma;ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Some of these fusion genes, including SYT-SSX in synovial sarcoma and EWS-FLI1 in Ewing sarcoma, have been reported to be associated with prognosis. '), ('2886', 'TEL_AML1', 't(12;21) / t(1;19) / t(9;22)  / t(4;11)  / t(9;22) / t(1;19)  / t(12;21)  / ', 'TEL', 'AML1', '26710773', '126', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 't(12;21) with intron 1of the AML1 gene was detected as the most common gene rearrangement in paediatric ALL, whereas one rare form of the TEL-AML1 breakpoint in which TEL is fused with intron 2 of AML1 was also observed.     ///    TEL-AML1 was found to be the most common translocation in Paediatric B-ALL. '), ('2887', 'MALT1_API2', '', 'MALT1', 'API2', '16353132', '126', 'Sjogren\'s syndrome', '', '', '', '', '', '', '', '', ' Thymic MALT lymphoma shows certain distinctive features among MALT lymphomas, such as expression of IgA isotype, consistent lack of API2-MALT1 gene fusion, and very strong association with autoimmune disease, especially Sjogren\'s syndrome. '), ('2888', 'TEL_AML1', 't(12;21)(p13;q22) / ', 'TEL', 'AML1', '21029724', '126', 'leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'RAG-dependent recombination at cryptic RSSs within TEL-AML1 t(12;21)(p13;q22) chromosomal translocation region.. '), ('2889', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '20565230', '126', 'hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Systemic corticosteroids, such as prednisone, are first-line therapy for the management of patients with symptomatic HES who lack the Fip1-like 1-platelet-derived growth factor receptor-alpha (FIP1L1-PDGFRA) gene fusion mutation. '), ('2890', 'MLLT3_MLL', '', 'MLLT3', 'MLL', '22845170', '126', 'B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', '', '', 'Seq', 'Of thirteen MLL rearrangements detected, five were capable of generating MLL fusion genes, including MLL-MLLT3, the most common fusion in acute myeloid leukaemia (AML). '), ('2891', 'MLL_AF10', 't(9;11)(p21-22;q23) / t(11;19)(q23;p13) / t(6;11)(q27;q23) / ', 'MLL', 'AF10', '21351416', '126', '', '', '', '', '', '', '', '', '', 'q23)/MLL-AF10, t(11;19)(q23;p13)/MLL-ELL, ENL and t(6;11)(q27;q23)/MLL-AF6. '), ('2892', 'MYC_IGH', 't(8;14)(q24;q32) / t(14;18)(q32;q21) / t(8;14;18)  / ', 'MYC', 'IGH', '15716988', '126', 'follicular lymphoma;B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'A total of 55 cases were identified, of which eight revealed a complex der(8)t(8;14;18) with an MYC-IGH-BCL2 rearrangement resulting from translocation of BCL2 and MYC with a single disrupted IGH allele. '), ('2893', 'MLL_ELL', 't(10;11) / p11.2;q23 / t(11;19) / ', 'MLL', 'ELL', '23211007', '126', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', 'KB', 'Seq', 'Both had MLL translocations, the first a t(10;11)(p11.2;q23) with MLL-AF10 and the second a t(11;19)(q23;p13.1) with MLL-ELL fusion. '), ('2894', 'MYC_IGK', 't(2;8) / ', 'MYC', 'IGK', '22120970', '126', 'leukemia;B cell lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Molecular analysis of the t(2;8)/MYC-IGK translocation in high-grade lymphoma/leukemia by long-distance inverse PCR..     ///    We investigated a number of cytogenetically mostly uncharacterized high-grade lymphoma samples and identified a MYC-IGK juxtaposition in seven patients and three t(2;8)-positive cell lines. '), ('2895', 'MLL_AF10', 't(10;11) / p11.2;q23 / t(11;19) / ', 'MLL', 'AF10', '23211007', '126', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'Both had MLL translocations, the first a t(10;11)(p11.2;q23) with MLL-AF10 and the second a t(11;19)(q23;p13.1) with MLL-ELL fusion. '), ('2896', 'TOP1_NUP98', 't(10;20;11)(q24;q11;p15) / t(11;20)(p15;q11) / t(11;20)  / t(11;20) / ', 'TOP1', 'NUP98', '11979559', '126', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia;polycythemia vera\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', '', 'Expression of NUP98/TOP1, but not of TOP1/NUP98, in a treatment-related myelodysplastic syndrome with t(10;20;11)(q24;q11;p15)..     ///    \"Recently, the t(11;20) was shown to result in a fusion of the NUP98 and TOP1 genes, with expression of the NUP98/TOP1 chimera encoded by the der(11)t(11;20), but not of the reciprocal TOP1/NUP98 on the der(20)t(11;20). \"    ///    Reverse transcriptase-polymerase chain reaction (RT-PCR) revealed a NUP98/TOP1 fusion in which exon 13 of NUP98 was fused in-frame with exon 8 of TOP1.     ///    \"The present results provide further support for the involvement of the NUP98/TOP1 transcript, but not of the reciprocal one, in the development of MDS/AML. \"    ///    \"Genomic XL PCR did not amplify the reciprocal TOP1/NUP98, nor was this chimera expressed, as expected from the cytogenetic finding. \"'), ('2897', 'HLXB9_ETV6', 't(7;12)(q36;p13) / ', 'HLXB9', 'ETV6', '17960638', '126', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' Recently published data show an extremely poor survival of infants with AML and HLXB9/ETV6 rearrangement which is the fusion, resulting from the translocation t(7;12)(q36;p13).     ///    Graft versus leukemia effect after haploidentical HSCT in a MLL-negative infant AML with HLXB9/ETV6 rearrangement..     ///    \"Herein, we report the clinical course of an 8-month-old patient with acute myeloid leukemia, M2 subtype and with a HLXB9/TEL rearrangement. \"'), ('2898', 'TEL_AML1', 't(12;21)  / ', 'TEL', 'AML1', '11426627', '126', '', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', ' The TEL-AML1 fusion which results from the t(12;21) rearrangement in childhood B-precursor acute lymphoblastic leukaemia (B-precursor ALL) is often accompanied by loss of the untranslocated TEL allele.     ///    The TEL-AML1 fusion accompanied by loss of the untranslocated TEL allele in B-precursor acute lymphoblastic leukaemia of childhood..     ///    \"This suggests that the initial or predisposing event is the generation of a TEL-AML1 fusion, followed by the promoting event of a deletion of a gene(s) on 12p. \"    ///    was the substantial evolution of the primary clonal line containing the reciprocal TEL-AML1 fusion. '), ('2899', 'RUNX1T1_RUNX1', 't(8;21)  / t(8;21) / ', 'RUNX1T1', 'RUNX1', '26320575', '126', 'leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'This translocation results in the RUNX1-RUNX1T1 fusion gene that produces a wide variety of alternative transcripts and influences the course of the disease.     ///    \"Altogether, our results show that alternative splicing of the RUNX1-RUNX1T1 transcripts follows strict rules and that the power-law component of the fusion gene organization confers a high flexibility to this process. \"    ///    The rules of combinatorics and splicing of exons in the RUNX1-RUNX1T1 transcripts are not known.     ///    \"Here we show that the local exon combinatorics of the RUNX1-RUNX1T1 gene follows a power-law behavior and (i) the vast majority of exons has a low ECI, (ii) only a small part is represented by \"\"exons-hubs\"\" of splicing with very high ECI values, and (iii) it is scale-free and very sensitive to targeted skipping of \"\"exons-hubs\"\". \"'), ('2900', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '7496355', '126', 'acute myeloid leukemia', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'However, leukemic cells lacked both translocation t(15;17) and RAR alpha/PML genes rearrangement. '), ('2901', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '24406865', '126', 'intraductal carcinoma', '', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2-ERG is the most common gene fusion in conventional prostatic adenocarcinoma, identified in about 40-70% of cases. '), ('2902', 'STAT6_NAB2', '', 'STAT6', 'NAB2', '24977739', '126', 'myofibroblastoma', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' Recurrent NAB2-STAT6 gene fusions have recently been identified in solitary fibrous tumour by next generation sequencing. '), ('2903', 'TEL_AML1', 't(12;21)  / t(12;21)(p12-13;q22) / t(12;21) / ', 'TEL', 'AML1', '8667657', '126', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' Despite its rarity by routine karyotypic analysis, cryptic t(12;21)(p12-13;q22) translocation leading to TEL/AML1 fusion has been recognized as the most frequent genetic rearrangement in childhood acute lymphoblastic leukemia (ALL) in two recent studies, one from France and the other from the United States.     ///    High incidence of TEL/AML1 fusion resulting from a cryptic t(12;21) in childhood B-lineage acute lymphoblastic leukemia in Taiwan..     ///    None of the patients with AML had TEL/AML1 fusion transcripts.     ///    \"In addition to its association with the B-lineage immunophenotype, TEL/AML1 was also correlated with a low presenting leukocyte count and favorable age (1-10 years). \"    ///    \"These findings, combined with earlier reports, indicate that TEL/AML1 fusion is the most frequent genetic abnormality in childhood ALL, regardless of race. \"'), ('2904', 'PDGFB_COL1A1', 't(17;22)(q22;q13) / ', 'PDGFB', 'COL1A1', '16956568', '125', 'dermatofibrosarcoma protuberans;sarcoma\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', '', 'KB', '', '[Analysis of the COL1A1-PDGFB fusion gene in a case of dermatofibrosarcoma protuberans with a fibrosarcoma component]..     ///    A study of the COL1A1-PDGFB fusion products is useful in cases where histology and immunohistochemistry are insufficient for the differential diagnosis of DFSP versus other sarcomas. '), ('2905', 'TEL_AML1', 't(12;21)(p13;q22) / ', 'TEL', 'AML1', '11167743', '125', '', 'PCR', '', '', '', '', '', '', '', 'In agreement with previous studies in which MRD levels at the end of induction therapy were found to be the strongest risk factor independent of other risk factors, in the present study we show that the MRD level remains a risk factor independent of the presence of a TEL/AML1 fusion gene..     ///    32 relapses in 73 TEL/AML1-negative patients).     ///    \"In 11 TEL/AML1-positive patients, the minimal residual disease (MRD) level at the end of induction therapy was quantified in a limiting dilution assay using IGH or TCRD junctional regions as polymerase chain reaction (PCR) targets. \"    ///    \"Comparison of known prognostic factors (age, sex, ploidy, white blood cell count and immunophenotype) between relapsed TEL/AML1-positive and TEL/AML1-positive patients in CCR did not reveal differences, except that the white blood cell count was significantly higher in the relapsed group (P = 0.001). \"    ///    Time between diagnosis and relapse was not different for the relapsed TEL/AML1-positive group vs.     ///    the relapsed TEL/AML1-negative group.     ///    \"However, this group was not representative as it included a high number of relapsed patients compared with the normal incidence in B-precursor ALL [54 in continuous complete remission (CCR) and 36 relapsed patients] and only a slightly better prognosis for TEL/AML1-positive patients was found (not significant) (four relapses in 17 TEL/AML1-positive patients vs. \"    ///    Minimal residual disease studies are beneficial in the follow-up of TEL/AML1 patients with B-precursor acute lymphoblastic leukaemia..     ///    In 17 (19%) cases a TEL/AML1 fusion was found. '), ('2906', 'TCF_PBX1', 't(9;22) / t(1;19) / t(4;11) / t(12;21)  / t(12;21) / t(4;11)  / ', 'TCF', 'PBX1', '20930648', '125', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', 'Patients with t(12;21)/ETV6-RUNX1 fusion, hyperdiploidy, and t(1;19)/TCF-PBX1 fusion had the most favorable outcomes, whereas those with the t(9;22)/BCR-ABL1 fusion or t(4;11) and other MLL gene rearrangement had poor prognosis (P<0.001 for EFS and OS).     ///    \"In this cohort of Taiwanese children, the relative frequencies of the 4 translocations of B-lineage ALL were 8% with ALL-type t(9;22)/BCR-ABL1, 4% with (1;19)/TCF-PBX1, 2% with t(4;11)/MLL-AF4, and 17.6% with t(12;21)/ETV6-RUNX1. \"    ///    \"Multiplex RT-PCR and nested-PCR assays were used to detect ALL-type BCR-ABL1 transcripts of the t(9;22), TCF-PBX1 transcripts of t(1;19), the MLL-AF4 transcripts of t(4;11), and 2 variants of ETV6-RUNX1 of the cryptic t(12;21) in 148 leukemic samples upon diagnosis. \"'), ('2907', 'MEF2D_DAZAP1', 't(1;19)(q23;p13) / t(1;19)  / ', 'MEF2D', 'DAZAP1', '15182431', '125', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Given the frequency of t(1;19) without the E2A-PBX1 fusion in hematological malignancies, we suggest that MEF2D / DAZAP1 rearrangements might be involved in the pathogenesis of those diseases..     ///    \"In addition, exogenous expression of MEF2D-DAZAP1 and DAZAP1-MEF2D promoted the growth of HeLa cells. \"    ///    \"MEF2D-DAZAP1 and DAZAP1-MEF2D proteins were both located in the nucleus, and MEF2D-DAZAP1 was able to form dimers with MEF2D and HDAC4. \"    ///    \"Both chimeric transcripts, MEF2D-DAZAP1 and DAZAP1-MEF2D, whose sequences indicated in-frame fusions between MEF2D and DAZAP1, were expressed in TS-2 cells and in bone-marrow cells of the patient from whom the TS-2 was established. \"'), ('2908', 'NFIB_MYB', '', 'NFIB', 'MYB', '24893972', '125', 'adenoid cystic carcinoma;pleomorphic adenoma;mucoepidermoid carcinoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', '', 'We found that 10/14 ACCs either expressed the MYB-NFIB fusion gene and/or had rearrangements of MYB.     ///    \"MYB-NFIB is a useful biomarker for ACC and MYB, and its downstream target genes may be potential therapeutic targets for these tumours.. \"'), ('2909', 'NUP98_HOXA9', 't(7;11)  / t(7;11)(p15;p15) / t(7;11) / ', 'NUP98', 'HOXA9', '10221343', '125', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'To ascertain the molecular features and the clinicopathological and prognostic significance of t(7;11)(p15;p15), 208 adult Chinese patients with AML were screened by Southern blot analysis with an HOXA9 cDNA probe and reverse transcription-polymerase chain reaction for NUP98/HOXA9.     ///    \"Two cases were found to have an NUP98/HOXA9 fusion transcript, with a breakpoint at NUP98 different from that previously described. \"    ///    \"The remaining case had no rearrangement of NUP98, nor was NUP98/HOXA9 detected. \"'), ('2910', 'RUNX1_ETV6', 't(9;22) / t(1;19) / t(4;11) / t(12;21)  / t(12;21) / t(4;11)  / ', 'RUNX1', 'ETV6', '20930648', '125', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Patients with t(12;21)/ETV6-RUNX1 fusion, hyperdiploidy, and t(1;19)/TCF-PBX1 fusion had the most favorable outcomes, whereas those with the t(9;22)/BCR-ABL1 fusion or t(4;11) and other MLL gene rearrangement had poor prognosis (P<0.001 for EFS and OS).     ///    \"In this cohort of Taiwanese children, the relative frequencies of the 4 translocations of B-lineage ALL were 8% with ALL-type t(9;22)/BCR-ABL1, 4% with (1;19)/TCF-PBX1, 2% with t(4;11)/MLL-AF4, and 17.6% with t(12;21)/ETV6-RUNX1. \"    ///    \"Multiplex RT-PCR and nested-PCR assays were used to detect ALL-type BCR-ABL1 transcripts of the t(9;22), TCF-PBX1 transcripts of t(1;19), the MLL-AF4 transcripts of t(4;11), and 2 variants of ETV6-RUNX1 of the cryptic t(12;21) in 148 leukemic samples upon diagnosis. \"'), ('2911', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '1486033', '125', 'acute myeloid leukemia', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'PML-RARA transcripts were detected in every case from a series of 18 APL patients with cytogenetically confirmed t(15;17) translocations, whereas RARA-PML messages were detected in only 67% (12/18) of these patients.     ///    Diagnosis of acute promyelocytic leukaemia by RT-PCR: detection of PML-RARA and RARA-PML fusion transcripts..     ///    Separate PCR assays were designed to amplify either PML-RARA (15q+ derived) or RARA-PML (17q- derived) chimaeric transcripts. '), ('2912', 'MYC_IGH', 't(8;14)(q24;q32) / ', 'MYC', 'IGH', '23276184', '125', 'lymphoblastic leukemia;leukemia;B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'A series of histopathologic, molecular, and cytogenetic evaluations proved a cytogenetic evolution including t(8;14)(q24;q32)/MYC-IgH and identical clonal B-cell gene rearrangements from the 2 distinct lymphomas, confirming stage 4 aggressive Burkitt lymphoma arising from lymphoplasmacytic lymphoma.. '), ('2913', 'BCR_ABL1', 't(9;22) / t(1;19) / t(4;11) / t(12;21)  / t(12;21) / t(4;11)  / ', 'BCR', 'ABL1', '20930648', '125', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Patients with t(12;21)/ETV6-RUNX1 fusion, hyperdiploidy, and t(1;19)/TCF-PBX1 fusion had the most favorable outcomes, whereas those with the t(9;22)/BCR-ABL1 fusion or t(4;11) and other MLL gene rearrangement had poor prognosis (P<0.001 for EFS and OS).     ///    \"In this cohort of Taiwanese children, the relative frequencies of the 4 translocations of B-lineage ALL were 8% with ALL-type t(9;22)/BCR-ABL1, 4% with (1;19)/TCF-PBX1, 2% with t(4;11)/MLL-AF4, and 17.6% with t(12;21)/ETV6-RUNX1. \"    ///    \"Multiplex RT-PCR and nested-PCR assays were used to detect ALL-type BCR-ABL1 transcripts of the t(9;22), TCF-PBX1 transcripts of t(1;19), the MLL-AF4 transcripts of t(4;11), and 2 variants of ETV6-RUNX1 of the cryptic t(12;21) in 148 leukemic samples upon diagnosis. \"    ///    \"BCR-ABL1, MLL gene rearrangement, and very high-risk group were independent prognostic factors after Cox regression analysis. \"'), ('2914', 'CBFA2T1_CBFA2', 'inv(16) / t(16;16)  / t(8;21)  / t(15;17)  / ', 'CBFA2T1', 'CBFA2', '11355922', '125', '', '', '', '', '', '', '', '', '', 'Some recurrent aberrations and the resulting gene rearrangements, namely inv(16)/t(16;16) and CBFbeta- MYH11, t(8;21) and CBFA2-CBFA2T1, t(15;17) and PML-RARalpha, and rearrangements of band 11q23 and the MLL gene, are now used to help define distinct disease entities within AML in the new World Health Organization classification of haematological malignancies. '), ('2915', 'ETO_AML1', 't(8;21)(q22;q22) / t(8;21)  / ', 'ETO', 'AML1', '26989731', '125', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'Determination of the prevalence of the AML1-ETO fusion gene was accomplished by TaqMan real-time PCR.     ///    The AML1-ETO fusion gene was detected up 50% of the M2 subgroup and absent in the M1 and M4 subtypes and healthy controls.     ///    Geographic heterogeneity of the AML1-ETO fusion gene in Iranian patients with acute myeloid leukemia.. '), ('2916', 'RARA_MYL', '', 'RARA', 'MYL', '1312695', '124', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'The two remaining patients exhibited a more 5\' rearrangement at about 10 kb upstream of the MYLbcr region, implying the lack of at least one MYL gene exon in the resulting MYL-RARA fusion gene.     ///    The variation of chromosome breakpoints within the MYL gene may explain size heterogeneity previously observed in some MYL-RARA fusion transcripts expressed in APL cells.. '), ('2917', 'MYH11_CBFB', 'inv(16)  / ', 'MYH11', 'CBFB', '20589720', '124', '', '', '', '', '', '', '', '', '', 'RUNX1 repression-independent mechanisms of leukemogenesis by fusion genes CBFB-MYH11 and AML1-ETO (RUNX1-RUNX1T1)..     ///    \"Both of these rearrangements result in the formation of fusion proteins, CBFB-MYH11 and AML1-ETO, respectively, that involve members of the CBF family of transcription factors. \"'), ('2918', 'CSF1_COL6A3', '', 'CSF1', 'COL6A3', '18829481', '124', 'glial cell tumor', 'PCR;ISH', '', '', '', '', '', '', '', 'Despite the COL6A3-CSF1 gene fusion discovered in benign lesions, molecular aberrations of malignant D-TSGCTs remain unidentified. '), ('2919', 'TEL_AML1', 't(12;21)  / del(6q)  / ', 'TEL', 'AML1', '11559948', '124', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Coexpression of cross-lineage antigens was associated with TEL/AML1 gene fusion (p = 0.032), with CD13 in 80% (4/5) TEL/AML1+ cohort.     ///    \"Irrespective of TEL/AML1 rearrangement, the probabilities of the five-year overall survival and the event-free survival of patients were comparable (overall survival: 100% vs. \"    ///    TEL/AML1 rearrangement and the prognostic significance in childhood acute lymphoblastic leukemia in Hong Kong..     ///     The TEL/AML1 rearrangement has been implicated as an independent good prognostic factor in pediatric acute lymphoblastic leukemia (ALL).     ///    The relapse rate in TEL/AML1+ ALL was similar to that of TEL/AML1- ALL (16.7% [2/12] vs.     ///    We examined TEL/AML1 using nested reverse-transcription polymerase chain reaction (RT-PCR) and correlated TEL/AML1 with cytogenetics and immunophenotypes in 75 consecutively analyzed Chinese children with ALL in Hong Kong.     ///    TEL/AML1 was detected in 17.9% (12/67) B-lineage ALL at diagnosis but not in 8 T-ALL children or in 34 adults with ALL.     ///    \"The duration of first complete remission in TEL/AML1+ ALL was significantly longer as compared to TEL/AML1- ALL (mean [range] in month: 48.6 [47.2 - 50] vs 14.6 [2.9 - 42.3], p < 0.0001). \"    ///    Rapid clearance of TEL/AML1 was noted in 50% of the patients on completion of the induction therapy. '), ('2920', 'TFE3_ASPL', '', 'TFE3', 'ASPL', '21070573', '124', 'renal cell carcinoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'RT-PCR technique was performed for ASPL-TFE3 gene fusion on two tumours with available frozen tissue.     ///    Two tumors with ASPL-TFE3 gene fusion also showed TFE3 over-expression. '), ('2921', 'FLI_EWS', 't(11;22)(q24;q12) / t(22;21)(q22;q12) / ', 'FLI', 'EWS', '19243895', '124', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'However, molecular analyses failed to show the presence of the EWS/FLI-1 and EWS/ERG fusion transcripts, indicative of the most common translocations, i.e., t(11;22)(q24;q12) and t(22;21)(q22;q12), occurring in this tumor family. '), ('2922', 'ETO_AML1', 'inv(16)  / ', 'ETO', 'AML1', '20589720', '124', '', '', '', '', '', '', '', '', '', 'RUNX1 repression-independent mechanisms of leukemogenesis by fusion genes CBFB-MYH11 and AML1-ETO (RUNX1-RUNX1T1)..     ///    \"Both of these rearrangements result in the formation of fusion proteins, CBFB-MYH11 and AML1-ETO, respectively, that involve members of the CBF family of transcription factors. \"'), ('2923', 'EWS_ERG', 't(11;22)(q24;q12) / t(22;21)(q22;q12) / ', 'EWS', 'ERG', '19243895', '124', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'However, molecular analyses failed to show the presence of the EWS/FLI-1 and EWS/ERG fusion transcripts, indicative of the most common translocations, i.e., t(11;22)(q24;q12) and t(22;21)(q22;q12), occurring in this tumor family. '), ('2924', 'PAX5_AUTS2', 't(7;9) / ', 'PAX5', 'AUTS2', '22578776', '124', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', 'Seq', 'PAX5-AUTS2: a recurrent fusion gene in childhood B-cell precursor acute lymphoblastic leukemia..     ///    \"Our findings substantiate that PAX5-AUTS2 is a recurrent fusion gene in pediatric B-cell precursor acute lymphoblastic leukemia, and we summarize the clinical characteristics of such patients.. \"    ///    \"We have identified the third case with a PAX5-AUTS2 fusion, which results from unbalanced t(7;9)(q11.2;p13.2) rearrangements. \"'), ('2925', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '17649722', '124', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Expressions of AML1/ETO fusion gene and AML1/ETO9a isoform were detected by using reverse transcriptase-polymerase chain reaction (RT-PCR) in leukemia patients, MDS patients, leukemia cell lines and healthy subjects.     ///    \"Among the 15 AML/ETO9a isoform expressing cases, 13 were demonstrated t(8;21) translocation and AML1/ETO expression. \"    ///    \"Isoform AML1/ETO9a was correlated to AML/M2, and it may promote the development of leukemia in combination with the AML1/ETO fusion gene.. \"'), ('2926', 'DEK_CAN', 't(6;9)(p23;q34) / ', 'DEK', 'CAN', '20140864', '124', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The expression of fusion gene DEK/CAN and FLT3-ITD mutation were analyzed by reverse transcription-PCR(RT-PCR).     ///    \"The DEK/CAN fusion gene was found in all the 6 cases, FLT3-ITD mutation was detected in three of them. \"'), ('2927', 'NUP214_ABL1', 't(9;14)(q34;q32) / ', 'NUP214', 'ABL1', '15713800', '123', 'acute lymphoblastic leukemia;chronic myeloid leukemia;T ALL;myeloid leukemia;lymphoblastic leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We recently identified NUP214-ABL1 as a variant ABL1 fusion gene in 6% of T-ALL patients. '), ('2928', 'ETO_AML1', 't(8;21) / t(8;21)  / ', 'ETO', 'AML1', '8640725', '123', '', 'PCR', '', '', '', '', '', '', '', 'Persistence of the AML1/ETO transcript has been demonstrated by PCR in patients with t(8;21) in long-term remission, but the rearranged AML1 gene could not be detected by Southern analysis, showing that the t(8;21) clone existed as minimal residual disease (MRD).     ///    \"In one patient with t(8;21), AML1/ETO could be detected serially in the peripheral blood. \"    ///    \"Thus, the presence of AML1/ETO in this case appeared to be due to persistence of the mutated clone as mature myeloid cells instead of MRD, implying that the t(8;21) had occurred in a preleukemic myeloid progenitor cell capable of differentiation.. \"    ///    \" Translocation (8;21)(q22;q22) involves fusion of the AML1 gene with the ETO gene, generating an AML1/ETO fusion transcript that can be detected by the polymerase chain reaction (PCR). \"'), ('2929', 'TLS_CHOP', 't(12;16)  / ', 'TLS', 'CHOP', '11229517', '123', 'liposarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' Myxoid liposarcoma (LS), the most common subtype of LS, is known to be characterized by the specific t(12;16) resulting in a TLS-CHOP fusion in almost all cases.     ///    \"Among the 4 myxoid LS without Southern blot evidence of TLS rearrangement, 1 showed an EWS-CHOP fusion by Southern blotting and reverse transcriptase-polymerase chain reaction and in another case, reverse transcriptase-polymerase chain reaction detected a TLS-CHOP fusion transcript. \"    ///    \"Other types of LS, even with a predominant myxoid component, lack the TLS-CHOP rearrangement, confirming that they represent a genetically distinct group of LS. \"    ///    Specificity of TLS-CHOP rearrangement for classic myxoid/round cell liposarcoma: absence in predominantly myxoid well-differentiated liposarcomas..     ///    The TLS-CHOP fusion is highly sensitive and specific for the entity of classic myxoid/round cell LS. '), ('2930', 'ABL1_BCR', 't(9;22)  / ', 'ABL1', 'BCR', '22058195', '123', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The t(9;22) translocation leads to the formation of the chimeric breakpoint cluster region/c-abl oncogene 1 (BCR/ABL) fusion gene on der22, the Philadelphia chromosome. '), ('2931', 'MYH11_CBF', 'inv(16)(p13q22) / t(16;16)(p13;q22) / inv(16)  / inv(16) / t(16;16) / ', 'MYH11', 'CBF', '7780153', '123', 'leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'Heterogeneity in CBF beta/MYH11 fusion messages encoded by the inv(16)(p13q22) and the t(16;16)(p13;q22) in acute myelogenous leukemia..     ///    \"In this study, we analyzed 37 cases of inv(16)-containing AML and 4 cases with t(16;16)(p13;q22) for expression of the CBF beta/MYH11 chimeric message by reverse transcription-polymerase chain reaction (PCR) analysis. \"    ///    CBF beta/MYH11 chimeric messages were detected in 33 of 37 cases with the inv(16) and in the 4 t(16;16)-containing cases.     ///    These data suggest that different CBF beta/MYH11 products may vary subtly in their biologic activities..     ///    \"To assess whether the portions of CBF-beta contained within the CBF beta/MYH11 chimeric products retain the ability to interact with their heterodimeric DNA-binding partner AML-1, we performed in vitro DNA-binding analysis. \"'), ('2932', 'RUNX1_ETV6', 't(12;21)(p13;q22) / t(12;21) / t(12;21)  / ', 'RUNX1', 'ETV6', '17285576', '123', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Of these, 288 (25%) were positive for t(12;21)(p13;q22) [ETV6/RUNX1].     ///    Cytogenetic patterns in ETV6/RUNX1-positive pediatric B-cell precursor acute lymphoblastic leukemia: A Nordic series of 245 cases and review of the literature.. '), ('2933', 'BCR_ABL1', 't(9;22)  / ', 'BCR', 'ABL1', '3422829', '123', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The Philadelphia chromosome (Ph1) of chronic myelogenous leukemia (CML) contains sequences from chromosome 9, including the ABL protooncogene, that have been translocated to the breakpoint cluster region (bcr) of chromosome 22, giving rise to a bcr-ABL fusion gene, whose product has been implicated in the genesis of CML. '), ('2934', 'BCR_ABL1', 't(3;9)(p12;q34) / t(5;9)(q23;q34) / t(3;9)  / t(5;9) / ', 'BCR', 'ABL1', '21391972', '123', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The identification of ALL with rare ABL1 fusion partners is important because the leukaemia may respond to tyrosine kinase inhibitors in the same way as ALL patients with a classical BCR-ABL1 fusion gene.. '), ('2935', 'JJAZ1_JAZF1', 'p15;q21 / ', 'JJAZ1', 'JAZF1', '19158498', '122', 'endometrial stromal sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Chimeric JAZF1-JJAZ1 mRNA transcribed from DNA spanning the site of recombination in the (7;17)(p15;q21) chromosomal translocation found in half of endometrial stromal sarcomas and most cases of benign stromal nodules is one such example.     ///    The JAZF1-JJAZ1 mRNA and the protein encoded by it appear to be identical to that synthesized from the gene fusion in neoplastic cells.     ///    The recent finding that chimeric JAZF1-JJAZ1 mRNA can also be detected in normal endometrial stromal cells suggests that chimeric gene products are not limited to cancer or pre-cancerous cells. '), ('2936', 'PPARG_PAX8', 't(2;3)(q13;p25) / ', 'PPARG', 'PAX8', '21763631', '122', 'thyloid cancer;follicular adenoma\r\r', 'PCR;RT-PCR', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'On the prevalence of the PAX8-PPARG fusion resulting from the chromosomal translocation t(2;3)(q13;p25) in adenomas of the thyroid..     ///    The aim of this study was to determine the frequency of the PAX8-PPARG fusion in follicular adenomas and to use the HMGA2 mRNA level of such tumors as an indicator of malignancy.    ///    The aim of this study was to determine the frequency of the PAX8-PPARG fusion in follicular adenomas and to use the HMGA2 mRNA level of such tumors as an indicator of malignancy. '), ('2937', 'NTRK3_ETV6', 't(12;15) (p13;q25) / ', 'NTRK3', 'ETV6', '20410810', '122', 'pleomorphic adenoma;acinic cell carcinoma;adenocarcinoma;salivary gland cancer\r\r', '', 'Kinase', '', '', '', '', 'KB', 'Seq', 'We have shown a t(12;15) (p13;q25) ETV6-NTRK3 translocation in all but one case of MASC suitable for analysis.     ///    \"This translocation was not found in any conventional salivary AciCC (12 cases), nor in other tumor types including pleomorphic adenoma (1 case) and low-grade cribriform cystadenocarcinoma (1 case), whereas ETV6-NTRK3 gene rearrangements were proven in all 3 tested cases of mammary secretory carcinoma. \"'), ('2938', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '10208431', '122', '', '', '', '', '', '', '', '', '', ' The 8;21 translocation is the most common cytogenetic abnormality in human acute myelogenous leukemia, joining the AML1 gene on chromosome 21, to the ETO gene on chromosome 8, forming the AML1/ETO fusion gene.     ///    \"The t(8;21) fusion protein, AML1/ETO, transforms NIH3T3 cells and activates AP-1.. \"    ///    \"Mutational analysis revealed that the runt homology domain (RHD) and a C-terminal transcriptional repression domain in AML1/ETO are required for transformation, activation of c-Jun and increased AP-1 activity. \"    ///    \"Expression of AML1/ETO increased the level of c-Jun-P (ser63), and activated AP-1 dependent transcription, which was inhibited by expression of a dominant-negative c-Jun protein. \"    ///    \"We used NIH3T3 cells to determine the transforming capacity of AML1/ETO, and to further characterize its mechanism of action. \"    ///    \"Expression of AML1/ETO in NIH3T3 cells caused cell-type specific cell death, and cellular transformation, characterized by phenotypic changes, anchorage-independent growth, and tumor formation in nude mice. \"    ///    \"To investigate the mechanism of transformation by AML1/ETO, we analysed the levels of activated, phosphorylated c-Jun (ser63) and other constituents of the AP-1 complex, in the presence of various AML1/ETO related proteins. \"    ///    \"However, AML1/ETO can also activate the BCL-2 promoter and cause enhanced hematopoietic progenitor self-renewal in vitro, suggesting gain-of-functions unique to the fusion protein. \"'), ('2939', 'MLL_EPS15', 't(1;11)(p32;q23) / ', 'MLL', 'EPS15', '14704037', '122', 'acute lymphoblastic leukemia;acute promyelocytic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Our case is of interest because of simultaneous relapse of the original leukemia and onset of therapy-related leukemia and relatively rare t(1;11)(p32;q23) translocation with confirmed MLL/AF-1p fusion.     ///    MLL/AF-1p fusion in therapy-related early pre-B acute lymphoblastic leukemia with t(1;11)(p32;q23) translocation developing in the relapse phase of acute promyelocytic leukemia.. '), ('2940', 'MECOM_AML1', 't(3;12)(q26;p13) / ', 'MECOM', 'AML1', '9044825', '122', 'myeloproliferative disorder;myelodysplastic syndrome;leukemia\r\r', '', '', 'Oncogene', '', '', '', '', '', 'Furthermore, a comparison can be made with the formation of an AML1/MDS1/EVI1 fusion gene in translocations (3;21)(q26;q22).. '), ('2941', 'MECT1_MAML2', 't(11;19)(q21;p13) / t(11;19)  / ', 'MECT1', 'MAML2', '16444749', '122', 'mucoepidermoid carcinoma\r\r', '', '', '', '', '', '', '', '', ' Mucoepidermoid carcinomas (MECs) of the salivary and bronchial glands are characterized by a recurrent t(11;19)(q21;p13) translocation resulting in a MECT1-MAML2 fusion in which the CREB-binding domain of the CREB coactivator MECT1 (also known as CRTC1, TORC1 or WAMTP1) is fused to the transactivation domain of the Notch coactivator MAML2.     ///    A t(11;19) and/or an MECT1-MAML2 fusion was detected in more than 55% of the tumors.     ///    Molecular classification of mucoepidermoid carcinomas-prognostic significance of the MECT1-MAML2 fusion oncogene..     ///    These findings suggest that molecularly classifying MECs on the basis of an MECT1-MAML2 fusion is histopathologically and clinically relevant and that the fusion is a useful marker in predicting the biological behavior of MECs..     ///    Western blot and immunohistochemical studies demonstrated that the MECT1-MAML2 fusion protein was expressed in all MEC-specific cell types. '), ('2942', 'ETO_CBFA2', 't(8;21)  / ', 'ETO', 'CBFA2', '12691161', '122', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;RT-PCR ', '', '', '', '', '', '', '', 'The presence of a CBFA2-ETO fusion gene was established by fluorescence in situ hybridization and reverse-transcriptase polymerase chain reaction analysis. '), ('2943', 'MLL_AF10', '', 'MLL', 'AF10', '16630339', '122', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', '', '', '', '', '', '', '', '', 'In AML patients (n = 13, age 1-14 years) PML/RARalpha (n = 4), CBFbeta/MYH11 (n = 3), AML1/ETO (n = 2), MLL/AF6 (n = 1), MLL/AF9 (n = 1) and MLL/AF10 (n = 1) fusion genes and/or internal tandem duplication of FLT3 gene (FLT3/ITD) (n = 2) were used as clonotypic markers. '), ('2944', 'FLI1_EWS', 't(12;22;22)(q14;p1;q12) / ', 'FLI1', 'EWS', '8040301', '122', 'neuroectodermal tumor;ewing sarcoma;sarcoma\r\r', 'PCR;ISH', '', '', '', '', '', '', '', 'A novel EWS-Fli1 in-frame isoform fusing EWS to exon 8 of Fli1 was isolated from a tumor with a variant t(12;22;22)(q14;p1;q12) translocation. '), ('2945', 'OTT_MAL', 't(1;22)(p13;q13) / t(9;22)(q34;q11) / del(5q)  / del(7q)  / ', 'OTT', 'MAL', '12091356', '122', 'acute myeloid leukemia;myeloid leukemia;leukemia;down syndrome\r\r', '', '', '', '', '', '', '', '', 'Nine cytogenetic groups were identified: normal karyotypes (group 1), patients with Down syndrome (group 2), numerical abnormalities only (group 3), t(1;22)(p13;q13) or OTT-MAL transcript (group 4), t(9;22)(q34;q11) (group 5), 3q21q26 (group 6), -5/del(5q) or -7/del(7q) or both (group 7), i(12)(p10) (group 8), and other structural changes (group 9). '), ('2946', 'TEL_AML1', 't(15;17) / t(8;21) / inv(16) / ', 'TEL', 'AML1', '16888896', '122', 'T ALL;leukemia\r\r', '', '', '', '', '', '', '', '', 'Our analysis demonstrates that the single platform of gene expression profiling can accurately identify the known prognostically important genetic subtypes of ALL, including T-ALL, E2A-PBX1, TEL-AML1, MLL rearrangements, BCR-abl, and hyperdiploid >50 chromosomes, and AML, including t(15;17)[PML-RARalpha], t(8;21)[AML1-ETO], inv(16)[CBFbeta-MYH11], MLL gene rearrangement, and cases with FAB-M7 morphology. '), ('2947', 'WT1_EWS', 't(11;22)  / ', 'WT1', 'EWS', '10588700', '122', 'desmoplastic small round cell tumor\r\r', '', '', '', '', '', '', '', '', 'The EWS/WT1 protein is such a fusion product, resulting from a t(11;22) chromosomal translocation in desmoplastic small round cell tumors, where 265 aa from the EWS amino terminus are fused to the DNA binding domain of the WT1 tumor suppressor gene. '), ('2948', 'NUP98_NSD1', 't(5;11)(q35;p15) / ', 'NUP98', 'NSD1', '23999921', '122', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', ' The cytogenetically cryptic t(5;11)(q35;p15) leading to the NUP98-NSD1 fusion is a rare but recurrent gene rearrangement recently reported to identify a group of young AML patients with poor prognosis.     ///    The role of quantitative PCR is also highlighted as a potential tool for managing NUP98-NSD1 positive patients post-treatment..     ///    These data lend support to the adoption of screening for NUP98-NSD1 in pediatric AML without otherwise favorable genetic markers.     ///    NUP98-NSD1 fusion in association with FLT3-ITD mutation identifies a prognostically relevant subgroup of pediatric acute myeloid leukemia patients suitable for monitoring by real time quantitative PCR.. '), ('2949', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '16434964', '122', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The translocation results in a fusion gene product, PML-RARalpha, in which the PML gene fuses to the retinoic acid receptor alpha (RARalpha) gene. '), ('2950', 'TEL_AML1', 't(12;21)(p13;q22) / ', 'TEL', 'AML1', '9845546', '122', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' The TEL/AML1 fusion associated with t(12;21)(p13;q22) is the most common gene rearrangement in childhood leukemia, occurring in approximately 25% of pediatric acute lymphoblastic leukemia (ALL), and is associated with a favorable prognosis.     ///    \"However, two recent studies analyzing pediatric patients with relapsed ALL have reported the same incidence of the TEL/AML1 rearrangement as in patients with newly diagnosed ALL, suggesting that TEL/AML1 positivity is not a favorable prognostic indicator. \"    ///    \"To clarify this apparent discrepancy, 48 pediatric patients treated on Dana-Farber Cancer Institute (DFCI) protocols with ALL at first or second relapse were tested for TEL/AML1 using reverse transcriptase-polymerase chain reaction (RT-PCR). \"    ///    \"Taken together, these results support the need for prospective analysis of prognosis in TEL/AML1-positive patients.. \"    ///    \"Although there are several potential explanations for the observed differences in TEL/AML1-positive patients at relapse, it is plausible that relapse-free survival in TEL/AML1-positive patients may be changed with different therapeutic approaches. \"    ///    The low frequency of TEL/AML1-positive patients at relapse is significantly different than that reported in other studies.     ///    \"For example, a cohort of pediatric patients with ALL retrospectively analyzed for the TEL/AML1 fusion treated on Dana-Farber Cancer Institute (DFCI) ALL Consortium protocols between 1980 to 1991 demonstrated a 100% relapse-free survival in TEL/AML1-positive patients with a median of 8.3 years of follow-up. \"    ///    \"The TEL/AML1 fusion was identified in only 1 of 32 analyzable relapsed ALL patients, in concordance with our previous reports of improved disease-free survival in TEL/AML1-positive patients. \"    ///    Incidence of TEL/AML1 fusion in children with relapsed acute lymphoblastic leukemia.. '), ('2951', 'ETV6_AML1', 'p13;q22 / ', 'ETV6', 'AML1', '12196211', '122', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The ETV6/AML1 fusion arising from the translocation (t12;21) (p13;q22) has been associated with a good outcome. '), ('2952', 'ETO_AML1', 't(15;17) / t(8;21) / inv(16) / ', 'ETO', 'AML1', '16888896', '122', 'T ALL;leukemia\r\r', '', '', '', '', '', '', '', '', 'Our analysis demonstrates that the single platform of gene expression profiling can accurately identify the known prognostically important genetic subtypes of ALL, including T-ALL, E2A-PBX1, TEL-AML1, MLL rearrangements, BCR-abl, and hyperdiploid >50 chromosomes, and AML, including t(15;17)[PML-RARalpha], t(8;21)[AML1-ETO], inv(16)[CBFbeta-MYH11], MLL gene rearrangement, and cases with FAB-M7 morphology. '), ('2953', 'PHF20L1_APPBP2', '', 'PHF20L1', 'APPBP2', '23260012', '122', 'breast cancer\r\r', '', '', '', '', '', '', '', '', 'From this analysis we identified 9 expressed fusion genes: APPBP2-PHF20L1, BCAS3-HOXB9, COL14A1-SKAP1, TAOK1-PCGF2, TIAM1-NRIP1, TIMM23-ARHGAP32, TRPS1-LASP1, USP32-CCDC49 and ZMYM4-OPRD1. '), ('2954', 'PBX3_EWSR1', 't(9;22)(q33;q12) / t(10;17)(q22;q21) / ', 'PBX3', 'EWSR1', '25875009', '122', 'smooth muscle tumor\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'The translocation resulted in an EWSR1-PBX3 fusion gene in which exon 9 of EWSR1 (nucleotide 1320 accession number NM_013986 version 3) was in-frame fused to exon 5 of PBX3 (nucleotide 824 accession number NM_006195 version 5).     ///    The EWSR1-PBX3 fusion transcript codes for a 529 amino acids long chimeric EWSR1-PBX3 protein which contains the N-terminal transactivation part of EWSR1 and the homeodomain of PBX3. '), ('2955', 'IGH_BCL2', 't(14;18)(q32;q21) / ', 'IGH', 'BCL2', '19220419', '122', 'follicular lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'These tumor clones shared an identical BCL2-IgH recombination, accompanying t(14;18)(q32;q21) translocation, and an identical variable, diversity and joining segments joining with clone-specific VH somatic hypermutations on the untranslocated IgH allele. '), ('2956', 'BCR_ABL1', 't(9;22) / inv(16) / t(8;21) / ', 'BCR', 'ABL1', '21275954', '122', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Subclones with the t(9;22)/BCR-ABL1 rearrangement occur in AML and seem to cooperate with distinct genetic alterations..     ///    These cases allow some interesting conclusions: The BCR-ABL1 rearrangement apparently can cooperate with the NPM1 mutation similar to other class-I-mutations.     ///    Four patients had m-BCR (e1a2) BCR-ABL1 transcripts.     ///    \"In rare cases of myeloid malignancies, the BCR-ABL1 fusion was reported to cooperate as class-I-mutation with class-II-mutations, but most cases had to be classified as blast phase of chronic myeloid leukaemia (CML). \"'), ('2957', 'HOXB9_BCAS3', '', 'HOXB9', 'BCAS3', '23260012', '122', 'breast cancer\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'From this analysis we identified 9 expressed fusion genes: APPBP2-PHF20L1, BCAS3-HOXB9, COL14A1-SKAP1, TAOK1-PCGF2, TIAM1-NRIP1, TIMM23-ARHGAP32, TRPS1-LASP1, USP32-CCDC49 and ZMYM4-OPRD1. '), ('2958', 'TCF3_PBX1', 't(1;19) / ', 'TCF3', 'PBX1', '20699438', '122', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Unsupervised clustering of gene expression profiling data revealed 8 unique cluster groups within these high-risk ALL patients, 2 of which were associated with known chromosomal translocations (t(1;19)(TCF3-PBX1) or MLL), and 6 of which lacked any previously known cytogenetic lesion. '), ('2959', 'RUNX1_ETV6', 't(12;21) / t(6;11) / 1p23;q13 / ', 'RUNX1', 'ETV6', '18328947', '122', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'One case of der(21) duplication with ETV6/RUNX1 exhibited a novel MLL translocation variant t(6;11)(p21.1p23;q13q25), with translocation of 3\' telomeric MLL and deletion of 5\' centromeric MLL.     ///    \" Out of 76 pediatric cases of B-cell precursor acute lymphoblastic leukemia (BCP-ALL) positive for ETV6/RUNX1 (previously TEL/AML1) resulting from t(12;21), 7 cases revealed coexistence of ETV6/RUNX1 and MLL aberrations. \"    ///    Another case of der(21) duplication with ETV6/RUNX1 showed MLL rearrangement upon Southern blotting.     ///    \"ETV6/RUNX1 and MLL aberration clone size in these cases was suggestive of ETV6/RUNX1 as an early primary event, originating in the embryonic or infant stage and developing into leukemia by later acquisition of MLL aberration, ETV6 loss, and ETV6/RUNX1 duplication as secondary events. \"    ///    Coexistence of ETV6/RUNX1 and MLL aberrations in B-cell precursor acute lymphoblastic leukemia discloses a small subclass of BCP-ALL..     ///    \"To date, the prognosis has been favorable, which seems to be compatible with ETV6/RUNX1-positive ALL. \"    ///    The remaining five ETV6/RUNX1-positive cases had MLL allelic deletion.     ///    \"We conclude that the cases with coexisting ETV6/RUNX1 and MLL aberrations probably exist as a small, hidden group of ETV6/RUNX1-positive BCP-ALL, which invites further investigation, in large series from different populations, to confirm the findings and establish the biological mechanisms and prognostic significance.. \"'), ('2960', 'BCR_ABL1', 't(9;22) / ', 'BCR', 'ABL1', '22248505', '122', 'acute myeloid leukemia;acute lymphoblastic leukemia;chronic myeloid leukemia\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Standard RT-PCR was used to detect expression of the BCR-ABL1 fusion gene.     ///    Minimal residual disease was monitored by RQ-PCR for the BCR-ABL1/ABL ratio. '), ('2961', 'NUT_BRD4', 't(15,19) /  / ', 'NUT', 'BRD4', '23374840', '122', 'seminoma', '', 'Kinase', '', '', '', '', 'KB', '', 'The cell lines also did not contain the BRD4/NUT gene rearrangement [t(15,19)] seen in midline carcinomas nor did they contain overexpressed nuclear protein in testis (NUT) genes. '), ('2962', 'BCR_ABL1', '', 'BCR', 'ABL1', '25941032', '122', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Rare patients suffering from myeloid neoplasms share clinical and cytological features indistinguishable from chronic myeloid leukemia (CML) but lack the BCR-ABL1 fusion gene. '), ('2963', 'IGH_BCL2', 't(14;18)  / ', 'IGH', 'BCL2', '7694006', '122', 'follicular lymphoma;lymphoma\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' Using reverse transcription and the polymerase chain reaction (RT-PCR), we determined the level of expression of BCL-2/IgH in 18 follicular center cell lymphomas containing a t(14;18) translocation involving the major breakpoint region and five non-neoplastic lymph nodes.     ///    \"BCL-2/IgH transcripts were demonstrated in 16 follicular center cell lymphoma cases (five high, 11 low) and were not present in any of the five non-neoplastic lymph nodes. \"    ///    \"In the two follicular lymphoma cases in which BCL-2/IgH transcripts could not be detected by RT-PCR, PCR amplification of genomic DNA indicated this was not due to primer selection. \"'), ('2964', 'EML4_ALK', '', 'EML4', 'ALK', '23675251', '121', '', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Identification of Novel Variant of EML4-ALK Fusion Gene in NSCLC: Potential Benefits of the RT-PCR Method..     ///    Here we present a novel variant of the EML4-ALK fusion gene which we named variant 3c.     ///    \"RNA extracted from formalin fixed paraffin embedded (FFPE) specimens from patients with advanced and metastatic NSCLC was amplified, using primers and probes designed to detect specific EML4-ALK fusion gene fragments. \"    ///    \"Compared to FISH technology, RT-PCR enables the detection of different isoforms of the EML4-ALK transforming gene, which can be validated by sequencing. \"    ///    \"However, the clinical implications of the 15 different variants of the EML4-ALK transforming gene described so far are currently not defined. \"'), ('2965', 'ETO_AML1', 'del (9) (q12q22) / ', 'ETO', 'AML1', '11876965', '121', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In case 2, the blast cells expressed CD(13) (38.8%), CD(33) (31.8%), CD(34) (80.9%), and CD(19) (63.9%) and RT-PCR assay revealed no AML1/ETO fusion gene transcript.     ///    \"AML1/ETO fusion gene was tested by \"\"nested\"\" reverse transcriptase-polymerase chain reaction (RT-PCR). \"'), ('2966', 'EWS_ERG', 't(15;22)  / ', 'EWS', 'ERG', '10209495', '121', '', '', '', '', '', '', '', '', '', 'A novel EWS-ERG rearrangement generating two hybrid mRNAs in a peripheral primitive neuroectodermal tumour (pPNET) with a t(15;22) translocation..     ///    \"To the authors\' knowledge, this is the first report of the detection of two hybrid EWS-ERG mRNAs within the same tumour.. \"'), ('2967', 'TEL_AML1', '', 'TEL', 'AML1', '12042710', '121', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The TEL/AML1 fusion gene, also known as ETV6 /CBFA2, is the most commonly occurring gene rearrangement in pediatric acute lymphoblastic leukemia (ALL).     ///    TEL/AML1-positive pediatric leukemia: prognostic significance and therapeutic approaches..     ///    \"Differences in outcome may be explained by the differing intensities of various chemotherapy regimens, individual host responses to chemotherapy, or the hypothesis that relapsed TEL/AML1-positive leukemia represents an outgrowth of a secondary leukemia that shares a common initiating event with the first. \"    ///    \" This article presents the most recent insights into the biology, prognostic significance, and therapeutic approaches to TEL/AML1-positive leukemia. \"'), ('2968', 'EWS_ERG', 't(11;22)(q24;q12) / t(21;22)(q21;q12) / ', 'EWS', 'ERG', '9646032', '121', 'ewing sarcoma;neuroectodermal tumor;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' Most Ewing tumors (ET), including Ewing sarcomas, peripheral primitive neuroectodermal tumors (PNET), and Askin\'s tumors, can be defined according to the specific chromosomal translocations t(11;22)(q24;q12) (EWS-FLI-1) or t(21;22)(q21;q12) (EWS-ERG).     ///    Molecular diagnosis of Ewing tumors: improved detection of EWS-FLI-1 and EWS-ERG chimeric transcripts and rapid determination of exon combinations.. '), ('2969', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '20303538', '121', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Clinical implications of TMPRSS2-ERG gene fusion expression in patients with prostate cancer treated with radical prostatectomy..     ///    \"In the nonexpressing TMPRSS2-ERG group the prognostic factors were cT, Gleason score and margins. \"'), ('2970', 'MLL_AF10', '', 'MLL', 'AF10', '16213369', '121', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'One of the recurrent translocations in AML-M5 involves chromosomal locus 10p12 and results in the MLL-AF10 fusion gene.     ///    \"We present a detailed structural analysis of an AML case with an extra copy of the 5\' part of MLL region and its insertion into the short arm of chromosome 10, resulting in an MLL-AF10 fusion without rearrangement of the MLL alleles on both chromosomes 11. \"    ///    \"Several mechanisms leading to MLL-AF10 fusion have been reported, and they have involved rearrangement of the 11q23 region. \"    ///    Cryptic MLL-AF10 fusion caused by insertion of duplicated 5\' part of MLL into 10p12 in acute leukemia: a case report.. ');
INSERT INTO `ChimerPub_dump` VALUES ('2971', 'TEL_AML1', '', 'TEL', 'AML1', '8982044', '121', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The TEL-AML1 fusion gene is associated with a cryptic t(12:21)(p12:q22) translocation, and is the commonest known genetic abnormality in childhood B-cell precursor acute lymphoblastic leukaemia (ALL), occurring in about 25% of cases.     ///    \"We conclude that the TEL-AML1 fusion gene is found in adult ALL, though less commonly than in children.. \"    ///    \"We have used RT-PCR, followed by Southern blotting and direct sequencing, to establish the incidence of TEL-AML1 rearrangement in 131 adults with acute leukaemia (101 with ALL and 30 with chronic myeloid leukaemia in blastic crisis). \"    ///    Three patients were positive for TEL-AML1 transcripts.     ///    All other patients were negative for TEL-AML1.     ///    TEL-AML1 fusion in acute lymphoblastic leukaemia of adults. '), ('2972', 'TFE3_ASPL', 'p11.2;q25 / ', 'TFE3', 'ASPL', '15634444', '121', 'granular cell tumors;neuroectodermal tumor', 'PCR;RT-PCR', '', '', '', '', '', '', '', '[Detection of ASPL-TFE3 fusion gene by reverse transcriptase polymerase chain reaction in paraffin-embedded tumor tissues of alveolar soft part sarcoma]..     ///    ASPL-TFE3 fusion transcripts were analyzed in all samples by reverse transcriptase-polymerase chain reaction (RT-PCR).     ///    ASPL-TFE3 fusion transcripts were detected in 6 of the 8 ASPS cases (4 being type 2 and 2 being type 1).     ///    The expression of ASPL-TFE3 fusion transcripts in paraffin-embedded tumor tissues can serve as an useful molecular marker in the diagnosis of ASPS.     ///    The remaining 2 cases were negative for both beta-actin and ASPL-TFE3.     ///    No ASPL-TFE3 mRNA expression was detected in all the controls. '), ('2973', 'MLL_FOXO3', 't(6;11)(q21;q23) / ', 'MLL', 'FOXO3', '9624533', '121', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', '', 'A new case of translocation t(6;11)(q21;q23) in a therapy-related acute myeloid leukemia resulting in an MLL-AF6q21 fusion.. '), ('2974', 'IGH_CCND1', 't(14;18)(q32;q21) / t(14;18) / t(11;14) / ', 'IGH', 'CCND1', '19965626', '121', 'mantle cell lymphoma', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The molecular characteristics of the t(14;18)/IGH-MALT1 resemble those found in the t(14;18)/IGH-BCL2 in follicular lymphoma and t(11;14)/CCND1-IGH in mantle cell lymphoma, suggesting that these translocations could be generated by common pathomechanisms involving illegitimate V(D)J-mediated recombination on IGH as well as new synthesis of T-nucleotides and nonhomologous end joining (NHEJ) or alternative NHEJ repair pathways on the IGH-translocation partner.. '), ('2975', 'TFE3_ASPSCR1', 'p11;q25 / p11;q21 / ', 'TFE3', 'ASPSCR1', '24309327', '121', 'renal cell carcinoma\r\r', '', '', 'Oncogene', '', '', '', 'KB', '', 'The most common subtypes are the ASPSCR1-TFE3 renal cell carcinomas resulting from t(X;17)(p11;q25) translocation, and the PRCC-TFE3 renal cell carcinomas, resulting from t(X;1)(p11;q21) translocation.     ///    \"however, 11 of 13 evaluable patients with ASPSCR1-TFE3 renal cell carcinomas who presented with N1M0 disease remained disease free. \"    ///    \"Regional lymph nodes were involved by metastasis in 24 of the 32 ASPSCR1-TFE3 cases in which nodes were resected, compared with 5 of 14 PRCC-TFE3 cases (P=0.02).. \"    ///    We also reviewed the literature for all published cases of ASPSCR1-TFE3 and PRCC-TFE3 renal cell carcinomas and contacted all corresponding authors to obtain or update the published follow-up information.     ///    \"Study of two new, unpublished cases, and review of the literature revealed that 8/8 patients who presented with distant metastasis had ASPSCR1-TFE3 renal cell carcinomas, and all but one of these patients either died of disease or had progressive disease. \"    ///    \"In conclusion, ASPSCR1-TFE3 renal cell carcinomas are more likely to present at advanced stage (particularly node-positive disease) than are PRCC-TFE3 renal cell carcinomas. \"'), ('2976', 'SYCP3_SYCP1', 't(8;13)  / ', 'SYCP3', 'SYCP1', '18270180', '121', '', '', '', '', '', '', '', '', '', 'We used immunofluorescent techniques to examine recombination (MLH1), synapsis (SYCP3/SYCP1) and transcriptional inactivation (BRCA1/gammaH2AX/RNA polymerase II) of meiotic chromosomes in an azoospermic carrier of a t(8;13) reciprocal translocation. '), ('2977', 'MALT1_API2', '', 'MALT1', 'API2', '11943727', '121', 'MALT lymphoma;B cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'These data indicate that thymic MALT lymphoma may represent a distinct subgroup of MALT lymphoma characterized by apparent predilection for Asians, a strong association with autoimmune disease, frequent presence of cysts, consistent plasma cell differentiation, tumor cells expressing IgA phenotype, and consistent lack of API2-MALT1 gene fusion..     ///    \"Epstein-Barr virus was absent, and API2-MALT1 gene fusion, a recently reported MALT lymphoma-specific gene abnormality, was not detected in any case. \"'), ('2978', 'RUNX1T1_RUNX1', 't(8;21)  / ', 'RUNX1T1', 'RUNX1', '25480496', '121', '', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Minimal residual disease monitored after induction therapy by RQ-PCR can contribute to tailor treatment of patients with t(8;21) RUNX1-RUNX1T1 rearrangement.. '), ('2979', 'PAX3_FOXO1', '', 'PAX3', 'FOXO1', '22648271', '121', 'rhabdomyosarcoma;sarcoma\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'The signature aRMS gene fusion product, PAX3-FOXO1, induced FGFR4 expression in primary human myoblasts. '), ('2980', 'RUNX1_CBFA2T3', 't(16;21)  / ', 'RUNX1', 'CBFA2T3', '19023877', '121', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' The translocation t(16;21) involving RUNX1 (AML1) and resulting in the RUNX1-CBFA2T3 fusion is a rare but recurrent abnormality mostly found in therapy-related acute myeloid leukemia (t-AML) associated with agents targeting topoisomerase II (topo II).     ///    Sequencing of the cDNA with specific primers showed the presence of the expected RUNX1-CBFA2T3 fusion transcript in leukemic cells. '), ('2981', 'TACC3_FGFR3', '', 'TACC3', 'FGFR3', '26425723', '121', 'cervical cancer', '', 'Kinase', '', '', '', '', '', '', 'FGFR3-TACC3: A novel gene fusion in cervical cancer..     ///    \"We report the first three cases of cervical carcinoma harboring an FGFR3-TACC3 fusion, which serves as a novel therapeutic target. \"    ///    One of the patients whose tumor contained the FGFR3-TACC3 fusion was treated with an investigational FGFR tyrosine kinase inhibitor. '), ('2982', 'TFE3_PRCC', 'p11;q25 / p11;q21 / ', 'TFE3', 'PRCC', '24309327', '121', 'renal cell carcinoma\r\r', '', '', '', '', '', '', 'KB', '', 'The most common subtypes are the ASPSCR1-TFE3 renal cell carcinomas resulting from t(X;17)(p11;q25) translocation, and the PRCC-TFE3 renal cell carcinomas, resulting from t(X;1)(p11;q21) translocation.     ///    \"In conclusion, ASPSCR1-TFE3 renal cell carcinomas are more likely to present at advanced stage (particularly node-positive disease) than are PRCC-TFE3 renal cell carcinomas. \"    ///    \"Two PRCC-TFE3 renal cell carcinomas recurred late (at 20 and 30 years, respectively). \"    ///    The tendency for PRCC-TFE3 renal cell carcinomas to recur late warrants long-term follow-up.     ///    We also reviewed the literature for all published cases of ASPSCR1-TFE3 and PRCC-TFE3 renal cell carcinomas and contacted all corresponding authors to obtain or update the published follow-up information.     ///    \"Regional lymph nodes were involved by metastasis in 24 of the 32 ASPSCR1-TFE3 cases in which nodes were resected, compared with 5 of 14 PRCC-TFE3 cases (P=0.02).. \"'), ('2983', 'IGH_CCND1', 't(11;14)(q13;q32) / t(14;18)(q32;q21) / t(14;18)  / t(11;14)  / ', 'IGH', 'CCND1', '18382373', '121', 'follicular lymphoma;B cell lymphoma;mantle cell lymphoma;lymphoma\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In the remaining cases, we used long distance inverse-PCR to detect BCL2-IGH and CCND1-IGH fusion genes with different BCL2 and CCND1 breakpoint locations.     ///    \"Using this assay in 17 FL and 11 MCL diagnostic DNA samples, we readily identified a BCL2-IGH fusion in 65% of FL patients and a CCND1-IGH fusion in 55% of MCL patients. \"'), ('2984', 'IGH_BCL2', 't(11;14)(q13;q32) / t(14;18)(q32;q21) / t(14;18)  / t(11;14)  / ', 'IGH', 'BCL2', '18382373', '121', 'follicular lymphoma;B cell lymphoma;mantle cell lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In the remaining cases, we used long distance inverse-PCR to detect BCL2-IGH and CCND1-IGH fusion genes with different BCL2 and CCND1 breakpoint locations.     ///    \"Using this assay in 17 FL and 11 MCL diagnostic DNA samples, we readily identified a BCL2-IGH fusion in 65% of FL patients and a CCND1-IGH fusion in 55% of MCL patients. \"'), ('2985', 'IGH_BCL2', 't(14;18) / ', 'IGH', 'BCL2', '17224959', '121', 'reactive lymphoid hyperplasia', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'BCL2-IgH [t(14;18)] rearrangement was seen in 8 of 12 cases (1 FL, 3 DLBCLs, 4 MALTLs) by real-time quantitative PCR.     ///    An unexpected finding was the BCL2-IgH rearrangement seen in 4 of 5 MALTL cases in our series. '), ('2986', 'TEL_HLXB9', 't(7;12)  / t(7;12) / ', 'TEL', 'HLXB9', '23048027', '121', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'In addition, HLXB9 is recurrently rearranged in young children with acute myeloid leukemia characterized by a chromosomal translocation t(7;12)-HLXB9/TEL and concomitant high expression of the unrearranged, wild-type HLXB9 allele. '), ('2987', 'BCR_ABL1', 't(9;22)(q34;q11) / ', 'BCR', 'ABL1', '11550282', '121', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The Philadelphia translocation, t(9;22)(q34;q11), is the microscopically visible product of recombination between two genes, ABL1 on chromosome 9 and BCR on chromosome 22, and gives rise to a functional hybrid BCR-ABL1 gene with demonstrated leukemogenic properties.     ///    \"For the present study, we carried out a detailed analysis of genomic BCR and ABL1 sequences to identify, classify, and locate interspersed repeat sequences and to relate their distribution to precisely mapped BCR-ABL1 recombination sites. \"    ///    These findings counter the suggestion that occurrence of Alu at BCR-ABL1 recombination sites is likely by chance because of the high density of Alu in these two genes. '), ('2988', 'ZMYND11_MBTD1', 't(10;17)(p15;q21) / ', 'ZMYND11', 'MBTD1', '26608508', '121', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Recurrent translocation t(10;17)(p15;q21) in minimally differentiated acute myeloid leukemia results in ZMYND11/MBTD1 fusion.. '), ('2989', 'preproinsulin_BGAL11', '', 'preproinsulin', 'BGAL11', '6310564', '121', '', '', '', '', '', '', '', '', '', 'Expression of a preproinsulin-beta-galactosidase gene fusion in mammalian cells..     ///    \"The expression of preproinsulin-beta-galactosidase activity was measured in the presence of high glucose, insulin, dexamethasone, or epidermal growth factor but no regulatory changes were observed.. \"    ///    The fused preproinsulin-beta-galactosidase was further characterized by gel electrophoresis of nondenatured cell extracts stained by a fluorogenic substrate and by immunoprecipitation and gel electrophoresis of 3H-labeled cell proteins. '), ('2990', 'IGH_BCL2', 't(14;18)  / t(14;18) / ', 'IGH', 'BCL2', '15026372', '121', 'non Hodgkin lymphoma;follicular lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Characterization of the t(14;18) BCL2-IGH translocation in farmers occupationally exposed to pesticides..     ///    \"Finally, these results provide additional evidence that BCL2-IGH translocation measurements could be a measure of acquired genetic instability in relation to genotoxic exposure in a gene directly relevant in term of lymphomagenesis.. \"    ///    \"As BCL2-IGH translocation represents an early step of the malignant process, we evaluated the occurrence and molecular characteristics of BCL2-IGH translocation in 56 individuals occupationally exposed to pesticides in open field farming They were selected from a representative cohort of farmers with a well-defined assessment of pesticide exposure taking into account potential confounding factors, smoking, sunlight, and age. \"    ///    Our results suggest that occupational exposure to pesticides would increase BCL2-IGH prevalence together with the frequency of BCL2-IGH-bearing cells especially during the high pesticide use period. '), ('2991', 'RARA_PML', 't(7;8) / ', 'RARA', 'PML', '19162322', '121', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Derivative (7)t(7;8): The sole karyotype abnormality in acute promyelocytic leukemia with PML/RARA rearrangement identified by RT-PCR and sequence analysis.. '), ('2992', 'SET_NUP214', '', 'SET', 'NUP214', '22169284', '121', 'lymphoblastic leukemia', 'PCR', '', '', '', '', '', 'KB', '', ' The purpose of this study was to analyze the gene rearrangement pattern of immunoglobulin and T-cell receptor (Ig/TR) and its clinical characteristics in three children with SET-NUP214 fusion gene positive leukemia/lymphoma.     ///    The transcript of SET-NUP214 fusion gene was detected by RT-nested PCR.     ///    [Gene rearrangement pattern of immunoglobulin and T-cell receptor (Ig/TR) and its clinical characteristics in children with SET-NUP214 fusion gene-positive leukemia/lymphoma]..     ///    It is concluded that the transformation of SET-NUP214(+) leukemia/lymphoma cells may occur after the rearrangements of TRD and TRG and shortly after TRB rearrangement. '), ('2993', 'RET_ACBD5', 'inv(10) / p12.1;q11.2 / ', 'RET', 'ACBD5', '25175022', '121', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'A novel RET rearrangement (ACBD5/RET) by pericentric inversion, inv(10)(p12.1;q11.2), in papillary thyroid cancer from an atomic bomb survivor exposed to high-dose radiation..     ///    These findings suggest that the ACBD5-RET rearrangement is causatively involved in the development of PTC.     ///    Stable NIH3T3 transfectants with ACBD5-RET cDNA induced tumor formation after their injection into nude mice.     ///    Full-length cDNA of the ACBD5-RET gene was constructed and then examined for tumorigenicity.     ///    \"Enhanced phosphorylation of ERK proteins in the MAPK pathway was observed in NIH3T3 cells transfected with expression vector encoding the full-length ACBD5/RET cDNA, while this was not observed in the cells transfected with empty expression vector. \"'), ('2994', 'SEPT9_MLL', 't(11;17)(q23;q25) / ', 'SEPT9', 'MLL', '17250889', '120', 'myelodysplastic syndrome\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'An MLL-SEPT9 fusion and t(11;17)(q23;q25) associated with de novo myelodysplastic syndrome..     ///    \"Analysis of MLL-septin family member fusion products such as the one seen here may provide further insights into the etiology of myeloid neoplasia, and MLL-SEPT9 fusion may be worth seeking in other cases of MLL rearrangements with a translocation partner on chromosome 17q.. \"    ///    \"MLL-SEPT9 fusion appears to be rare, having been described to date in only seven cases of AML and not, to our knowledge, in MDS. \"'), ('2995', 'SYT_SSX1', 'p11.2;q11.2 / ', 'SYT', 'SSX1', '17721327', '120', 'spindle cell sarcoma', 'PCR', '', '', '', '', '', '', '', 'A novel variant of SYT-SSX1 fusion gene in a case of spindle cell synovial sarcoma..     ///    Direct sequencing of the product disclosed a novel SYT/SSX1 fusion transcript. '), ('2996', 'PDGFB_COL1A1', 't(17;22)(q22;q13) / ', 'PDGFB', 'COL1A1', '11435686', '120', 'dermatofibrosarcoma', '', '', 'Oncogene', '', '', '', 'KB', '', 'This finding is in line with previous studies, and suggests further that not only the COL1A1/PDGFB fusion gene formation but also the role of DNA copy number gains in the 17q and 22q regions is crucial per se in the pathogenesis of DFSP. '), ('2997', 'PAX7_FOXO1', 't(2;2)  / t(2;8)  / t(2;13)(q35;q14) / t(1;13)(p36;q14) / t(2;2)(p23;q35) / t(2;8)(q35;q13) / ', 'PAX7', 'FOXO1', '19953635', '120', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', ' The fusion oncoproteins PAX3-FOXO1 [t(2;13)(q35;q14)] and PAX7-FOXO1 [t(1;13)(p36;q14)] typify alveolar rhabdomyosarcoma (ARMS). '), ('2998', 'PAX3_FOXO1', 't(2;2)  / t(2;8)  / t(2;13)(q35;q14) / t(1;13)(p36;q14) / t(2;2)(p23;q35) / t(2;8)(q35;q13) / ', 'PAX3', 'FOXO1', '19953635', '120', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', ' The fusion oncoproteins PAX3-FOXO1 [t(2;13)(q35;q14)] and PAX7-FOXO1 [t(1;13)(p36;q14)] typify alveolar rhabdomyosarcoma (ARMS). '), ('2999', 'PDGFRA_FIP1L1', 't(9;22)(q34;q11) / ', 'PDGFRA', 'FIP1L1', '16341034', '120', 'idiopathic myelofibrosis', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Recent studies have identified the FIP1L1-PDGFRA fusion gene, generated due to a small cryptic deletion on chromosome 4q12, and the activating V617F mutation in JAK2 in a significant fraction of Ph-negative CMPDs. '), ('3000', 'FLI_EWS', 't(11;22)  / ', 'FLI', 'EWS', '15183454', '120', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'These experiments suggest that targeted silencing of the EWS/FLI-1 fusion gene by siRNA represents a promising strategy to study the loss of EWS/FLI-1 protein in Ewing\'s sarcoma cells of otherwise identical genetic background..     ///    In this study we report that synthetic small interfering RNA (siRNA) specifically suppresses EWS/FLI-1 fusion gene expression in SK-ES Ewing\'s sarcoma cells.     ///     The defining cytogenetic abnormality of Ewing\'s sarcoma is the presence of a balanced t(11;22) translocation expressing the EWS/FLI-1 chimeric fusion protein.     ///    Knockdown of EWS/FLI-1 by RNA interference abrogates the invasiveness of SK-ES cells.     ///    Targeting of EWS/FLI-1 by RNA interference attenuates the tumor phenotype of Ewing\'s sarcoma cells in vitro..     ///    The effect of EWS/FLI-1 appears to be dominant negative since over-expression of EWS does not overcome the sarcoma phenotype.     ///    Previous studies have shown that EWS/FLI-1 as well as related sarcoma fusion proteins are necessary and sufficient to induce transformation both in vitro and in vivo.     ///    Knockdown of the EWS/FLI-1 fusion protein is correlated with decreased cell proliferation and increased apoptosis. '), ('3001', 'NUP98_HOXD13', 't(2;11)  / ', 'NUP98', 'HOXD13', '12543865', '120', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'Expression of the NUP98-HOXD13 fusion gene in vivo resulted in a partial impairment of lymphopoiesis but did not induce evident hematologic disease until late after transplantation (more than 5 months), when some mice developed a myeloproliferative-like disease.     ///    Induction of acute myeloid leukemia in mice by the human leukemia-specific fusion gene NUP98-HOXD13 in concert with Meis1..     ///    NUP98-HOXD13 strongly promoted growth and impaired differentiation of early hematopoietic progenitor cells in vitro.     ///    \"In summary, this study demonstrates that NUP98-HOXD13 can be directly implicated in the molecular process leading to leukemic transformation, and it supports a model in which the transforming properties of NUP98-HOXD13 are mediated through HOX-dependent pathways.. \"    ///    \"In contrast, mice transplanted with bone marrow (BM) cells cotransduced with NUP98-HOXD13 and the HOX cofactor Meis1 rapidly developed lethal and transplantable acute myeloid leukemia (AML), with a median disease onset of 75 days. \"    ///    We have now tested directly the leukemogenic potential of the NUP98-HOXD13 t(2. '), ('3002', 'ZNF384_E2A', 't(12;19) / ', 'ZNF384', 'E2A', '18185522', '120', 'leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'E2A-ZNF384 and NOL1-E2A fusion created by a cryptic t(12;19)(p13.3.     ///    RT-PCR showed expression of in-frame E2A-ZNF384 fusion cDNAs. '), ('3003', 'SYT_SSX1', 'p11;q11 / ', 'SYT', 'SSX1', '9739025', '120', 'synovial sarcoma;chronic myeloid leukemia;myeloid leukemia;leukemia;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'The \"masked\" nature of the translocation may best be explained by a two-step scenario in which a genuine t(X;18)(p11;q11) has occurred as a first step and a reverse reciprocal X;18 translocation as a second step, leaving the synovial sarcoma-associated SYT-SSX1 fusion intact.     ///    The findings further underline our previous suggestion that SYT-SSX1 fusions may correlate with a biphasic nature of the tumor. '), ('3004', 'PDGFB_COL1A1', 't(17;22)(q22;q13) / ', 'PDGFB', 'COL1A1', '10565681', '120', 'dermatofibroma', 'PCR', '', 'Oncogene', '', '', '', 'KB', '', 'The COL1A1-PDGFB fusion gene, is expected to be a diagnostic molecular assay.     ///    The COL1A1-PDGFB fusion transcripts could be detected in 10 of 12 paraffin-embedded DFSP tumor specimens (83%).     ///    \"In this present study, the investigators conducted a reverse transcription (RT)-polymerase chain reaction (PCR) assay to detect the COL1A1-PDGFB fusion transcripts using archival formalin-fixed, paraffin-embedded tumor specimens from 12 patients with DFSP. \"    ///    \"Detection of COL1A1-PDGFB fusion transcripts in dermatofibrosarcoma protuberans by reverse transcription-polymerase chain reaction using archival formalin-fixed, paraffin-embedded tissues.. \"    ///    \"In sample of DFSP with fibrosarcomatous transformation, the COL1A1-PDGFB could not be detected in the fibrosarcoma areas of the third recurrence, though the chimeric transcripts were identified in the ordinary DFSP areas of the first recurrence. \"'), ('3005', 'FLI_EWS', 't(11;22) (q24;q12) / ', 'FLI', 'EWS', '15045938', '120', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'EWS/FLI-1 fusion gene can be demonstrated, which can be a complementary method in diagnosing this tumor. '), ('3006', 'DISC1_DISC1FP1', 't(1,11)  / t(1,11)  /  / ', 'DISC1', 'DISC1FP1', '25943690', '120', '', '', '', '', '', '', '', '', '', 'Mice carrying the DISC1-Boymaw fusion genes display intermediate behavioral phenotypes related to major psychiatric disorders.     ///    \"The Boymaw protein inhibits oxidoreductase activity, rRNA expression, and protein translation in the same way as the DISC1-Boymaw fusion protein. \"    ///    \"Our recent studies found that the DISC1-Boymaw fusion protein is localized in mitochondria and inhibits oxidoreductase activity, rRNA expression, and protein translation. \"'), ('3007', 'NPM_ALK', 't(2;5)(p23;q35) / t(2;5) / t(2;5)  / ', 'NPM', 'ALK', '14736822', '120', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'DNA sequencing of the RT-PCR products from total and aRNA of SU-DHL-1 cells demonstrated identical sequences corresponding to the NPM-ALK fusion gene.     ///    \"RT-PCR using cDNA from the resultant amplified (a) RNA and total RNA resulted in the 177 bp NPM-ALK fusion gene product from the SU-DHL-1 cell line, but not from aRNA or total RNA from the HUT-78 cell line. \"    ///    Utility of linearly amplified RNA for RT-PCR detection of chromosomal translocations: validation using the t(2;5)(p23;q35) NPM-ALK chromosomal translocation.. '), ('3008', 'MALT1_API2', 't(11;18) (q21;q21) / t(11;18)  / ', 'MALT1', 'API2', '11162514', '120', 'MALT lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'To gain some insight into the mechanism that generates this translocation, we cloned and sequenced an API2-MALT1 fused transcript as well as genomic DNA of the t(11;18) translocation from a MALT lymphoma. '), ('3009', 'MALT1_API2', 't(11;18)(q21;q21) / ', 'MALT1', 'API2', '11736940', '120', 'MALT lymphoma;B cell lymphoma;lymphoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The presence of the API2-MALT1 fusion gene was also confirmed by long and accurate (LA)-PCR with genomic DNA, and the result correlated well with that obtained with the RT-PCR assay, thus demonstrating the usefulness of LA-PCR for the detection of the API2-MALT1 fusion gene..     ///    \" t(11;18)(q21;q21) has been recognized as a characteristic chromosomal translocation in mucosa-associated lymphoid tissue (MALT)-type lymphoma, and recent studies have demonstrated that this translocation results in the chimaeric transcript of API2 (apoptosis inhibitor 2)-MALT1 (mucosa-associated lymphoid tissue lymphoma translocation gene 1). \"    ///    RT-PCR analysis revealed that 17 of the 95 (17.9%) MALT lymphomas but none of the nine nMZBCLs or 16 DLBLs had API2-MALT1 fusion transcripts.     ///    \"The incidence of API2-MALT1 varied among MALT lymphomas arising from different sites and was highest for pulmonary MALT lymphomas (10 out of 16 cases, 62.5%). \"'), ('3010', 'SYT_SSX', '', 'SYT', 'SSX', '16157200', '120', 'epithelioid sarcoma', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'However, expression of the SYT-SSX fusion genes has been investigated in epithelioid sarcoma with negative results. '), ('3011', 'PHF23_NUP98', 't(11;17)(p15;p13) / ', 'PHF23', 'NUP98', '26066811', '120', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Identification of the NUP98-PHF23 fusion gene in pediatric cytogenetically normal acute myeloid leukemia by whole-transcriptome sequencing..     ///    \"We identified a chimeric transcript involving NUP98 and PHF23, resulting from a cryptic t(11;17)(p15;p13) translocation, demonstrating, for the first time, that NUP98-PHF23 is a novel recurrent (2.6%) abnormality in pediatric CN-AML.. \"'), ('3012', 'RET_PTC1', '', 'RET', 'PTC1', '15737050', '120', 'goitre', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Reverse transcriptase polymerase chain reaction using specific primers for RET/PTC1 and RET/PTC3 fusion genes identified a RET/PTC3 gene rearrangement in the rhabdoid tumor.     ///    \"The hypothesis that rhabdoid tumor is a variant of anaplastic thyroid carcinoma is supported by the identification of a RET/PTC gene rearrangement, a feature of carcinomas of follicular cell derivation.. \"'), ('3013', 'BCR_ABL1', 't(9;22) (q34;q11) / ', 'BCR', 'ABL1', '8417787', '120', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The ABL-BCR fusion gene is expressed in chronic myeloid leukemia..     ///    By reverse transcription/polymerase chain reaction amplification (RT/PCR) we have detected ABL-BCR mRNA in cells from 31 of 44 BCR-ABL positive CML patients and 3 of 5 CML cell lines.     ///    \"In 2 patients, the BCR exon b3 was not present in either the BCR-ABL or the corresponding ABL-BCR transcript, whereas in 5 patients exon b3 was present in both transcripts. \"    ///    \"The ABL-BCR transcripts encoded one or, more rarely, both of the two potential junctions, designated ABL-b3 and ABL-b4, which differed in size by 75 bp. \"    ///    \"If an ABL-BCR gene product is produced in CML cells, it may be relevant as a mechanism for deregulating the GTPase activating protein (GAP) function of BCR.. \"    ///    ABL-BCR expression consisted of ABL(Ib)-BCR mRNA in 26 patients and of both ABL(Ib)-BCR and ABL(Ia)-BCR mRNA species in 6 patients.     ///    \"Direct sequencing of PCR fragments representing the full-length coding sequence of ABL-BCR cDNAs type Ib-b3, Ia-b3, Ib-b4, and Ia-b4 showed an open reading frame predicted to encode fusion proteins of 370 to 414 amino-acids. \"    ///    \" Although the BCR-ABL hybrid gene on chromosome 22q-plays a pivotal role in the pathogenesis of chronic myeloid leukemia (CML), little is known of the reciprocal chimeric gene, ABL-BCR, formed on chromosome 9q+. \"'), ('3014', 'NOL1_E2A', 't(12;19) / ', 'NOL1', 'E2A', '18185522', '120', 'leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'E2A-ZNF384 and NOL1-E2A fusion created by a cryptic t(12;19)(p13.3. '), ('3015', 'RCSD1_ABL1', 't(1;9)(q23;q34) / t(5;16)(q33;q24) / p11.2;q11.2 / t(10;19) / ', 'RCSD1', 'ABL1', '21863287', '120', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'We performed breakpoint analysis of the transcript expressed by the RCSD1-ABL1 fusion gene.     ///    \"RT-PCR and sequence analyses detected transcription of a single RCSD1-ABL1 fusion gene variant, which had breakpoints in exon 3 of RCSD1 and exon 4 of ABL1. \"    ///    \"The RCSD1 portion of the RCSD1-ABL1 fusion transcript consists of exons 1, 2, and 3. \"'), ('3016', 'OCT4_EWS', 't(6;22)(p21;q12) / t(6;22)  / ', 'OCT4', 'EWS', '17564582', '120', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The EWS-Oct-4 fusion gene encodes a transforming gene..     ///    These results suggest that the oncogenic effect of the t(6;22) translocation is due to the EWS-Oct-4 chimaeric protein and that fusion of the EWS NTD to the Oct-4 DNA-binding domain produces a transforming chimaeric product..     ///    \"Deletion analysis of the functional domains of EWS-Oct-4 indicates that the EWS (NTD), the POU domain and the CTD of EWS-Oct-4 are necessary for full transactivation potential. \"    ///    \"EWS-Oct-4 induced the expression of fgf-4 (fibroblast growth factor 4) and nanog, which are potent mitogens as well as Oct-4 downstream target genes whose promoters contain potential Oct-4-binding sites. \"    ///    \"Finally, ectopic expression of EWS-Oct-4 in Oct-4-null ZHBTc4 ES (embryonic stem) cells resulted in increased tumorigenic growth potential in nude mice. \"    ///    Comparison of the transactivation properties of EWS-Oct-4 and Oct-4 indicates that the former has higher transactivation activity for a known target reporter gene containing Oct-4 binding.     ///    \"Since the N-terminal domains of EWS and Oct-4 are structurally different, in the present study we have assessed the functional consequences of the EWS-Oct-4 fusion. \"'), ('3017', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '12393523', '120', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The AML1-ETO fusion gene promotes extensive self-renewal of human primary erythroid cells..     ///    These data demonstrate the capacity of AML1-ETO to promote the self-renewal of human hematopoietic cells and therefore support a causal role for t(8;21) translocations in leukemogenesis..     ///    \" The t(8;21) translocation, which encodes the AML1-ETO fusion protein (now known as RUNX1-CBF2T1), is one of the most frequent translocations in acute myeloid leukemia, although its role in leukemogenesis is unclear. \"    ///    \"Phenotypic analysis showed that although these cells were CD13(-) and CD34(-), unlike control cultures, these cells failed to up-regulate CD36 or to down-regulate CD33, suggesting that expression of AML1-ETO suppressed the differentiation of these cells and allowed extensive self-renewal to occur. \"    ///    \"In contrast, in bulk liquid culture of purified erythroid cells, we found that while AML1-ETO initially inhibited proliferation during early (erythropoietin [EPO]-independent) erythropoiesis, growth inhibition gave way to a sustained EPO-independent expansion of early erythroid cells that continued for more than 60 days, whereas control cultures became growth arrested after 10 to 13 days (at the EPO-dependent stage of development). \"    ///    \"However, with extended culture, cells expressing AML1-ETO became refractory to addition of this cytokine, suggesting that a block in differentiation had been established. \"    ///    \"Here, we report that exogenous expression of AML1-ETO in human CD34(+) cells severely disrupts normal erythropoiesis, resulting in virtual abrogation of erythroid colony formation. \"'), ('3018', 'NTRK3_EML4', 't(2;15) / 2p21;15 / ', 'NTRK3', 'EML4', '27148571', '120', 'hemimelia', '', 'Kinase', '', '', '', '', '', '', 'Characterization of a novel fusion gene EML4-NTRK3 in a case of recurrent congenital fibrosarcoma..     ///    Cloning and expression of EML4-NTRK3 in murine fibroblast NIH 3T3 cells revealed a potent tumorigenic phenotype as assessed in vitro and in vivo. '), ('3019', 'TEL_AML1', 't(12;21)  / ', 'TEL', 'AML1', '26429121', '120', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' TEL-AML1 (ETV6-RUNX1) fusion gene which is formed prenatally in 1% of the newborns, is a common genetic abnormality in childhood Bcell precursor acute lymphoblastic leukemia.     ///    \"In other words, out of a hundred children born with TEL-AML1 only one child is at risk for leukemia development, which means that TEL-AML1 fusion gene is not sufficient for overt leukemia. \"    ///    Mitotic crossover promotes leukemogenesis in children born with TEL-AML1 via the generation of loss of heterozygosity at 12p.. '), ('3020', 'TEL_AML1', 't(8,21)  / t(12;21) / t(12;21)  /  / ', 'TEL', 'AML1', '9177434', '120', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia;down syndrome\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Recently, a new rearrangement involving AML1, the t(12;21), producing the TEL/AML1 hybrid transcript, has been described by molecular analysis as the most recurrent genetic lesion in childhood acute lymphoblastic leukemia (ALL).     ///    \"In order to investigate whether the t(12;21) could give a molecular clue as to the precise basis of the etiologic association between DS and acute lymphoblastic leukemia, we tested a series of 11 consecutive cases of ALL in DS children for the presence of the TEL/AML1 transcript, by RT-PCR analysis. \"    ///    The common TEL/AML1 rearrangement does not represent a frequent event in acute lymphoblastic leukaemia occuring in children with Down syndrome..     ///    We report absence of the TEL/AML1 rearrangement among the 11 cases tested. '), ('3021', 'CCNB3_BCOR', '', 'CCNB3', 'BCOR', '25360585', '120', 'spindle cell sarcoma', 'PCR;RT-PCR', '', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', ' The BCOR-CCNB3 fusion gene, resulting from a chromosome X paracentric inversion, was recently described in translocation-negative \'Ewing-like\' sarcomas arising in bone and soft tissue.     ///    Using whole transcriptome paired-end RNA sequencing (RNA-seq) we unexpectedly identified BCOR-CCNB3 fusion transcripts in an undifferentiated spindle-cell sarcoma.     ///    All patients with BCOR-CCNB3 sarcoma were males diagnosed in mid childhood (7-13 years of age).     ///    BCOR-CCNB3 fusions are frequent in undifferentiated sarcomas of male children..     ///    Five additional undifferentiated sarcomas with BCOR-CCNB3 fusions were identified in a series of 42 pediatric and adult unclassified sarcomas.     ///    \"This study adds to recent reports on the clinicopathologic spectrum of BCOR-CCNB3 fusion-positive sarcomas, a newly emerging entity within the undifferentiated unclassified sarcoma category and describes a simple RT-PCR assay that in conjunction with CCNB3 immunohistochemistry can be useful in diagnosing these tumors. \"'), ('3022', 'BCR_ABL1', 't(9;22)(q34;q11) / ', 'BCR', 'ABL1', '26297264', '120', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The resulting BCR-ABL1 fusion gene, encoding a tyrosine kinase with deregulated activity, has a central role in the pathogenesis of CML.     ///    \"Hence, the critical role of BCR-ABL1 mutation screening for optimal therapeutic management, with the current gold standard technique, conventional sequencing, likely to be replaced soon by ultra-deep sequencing. \"    ///    \"Mutations in the BCR-ABL1 kinase domain might arise, however, that confer resistance to 1 or more of the currently available TKIs. \"    ///    \"Mutations in genes other than BCR-ABL1 include ASXL1, TET2, RUNX1, DNMT3A, EZH2, and TP53 in chronic phase patients and RUNX1, ASXL1, IKZF1, WT1, TET2, NPM1, IDH1, IDH2, NRAS, KRAS, CBL, TP53, CDKN2A, RB1, and GATA-2 mutations in advanced phase patients. \"    ///    Mutations in the BCR-ABL1 Kinase Domain and Elsewhere in Chronic Myeloid Leukemia.. '), ('3023', 'NUP214_DEK', 't(6;9)(p23;q34) / ', 'NUP214', 'DEK', '24073922', '120', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', 'KB', '', 'Our study shows that the DEK-NUP214 fusion gene increases proliferation by upregulation of mTOR, suggesting that patients with leukemias carrying DEK-NUP214 may benefit from treatment with mTOR inhibitors..     ///     The t(6;9)(p23;q34) chromosomal translocation is found in 1% of acute myeloid leukemia and encodes the fusion protein DEK-NUP214 (formerly DEK-CAN) with largely uncharacterized functions.     ///    We expressed DEK-NUP214 in the myeloid cell lines U937 and PL-21 and studied the effects on cellular functions.     ///    \"In this study, we demonstrate that expression of DEK-NUP214 increases cellular proliferation. \"    ///    Forced expression of the DEK-NUP214 fusion protein promotes proliferation dependent on upregulation of mTOR.. '), ('3024', 'EWS_ERG', 't(11;22)(q24;q12) / ', 'EWS', 'ERG', '8076344', '119', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Elevated steady state levels of the EWS/ERG fusion gene transcript were detected in the #5838 cell line. '), ('3025', 'PAX7_FOXO1', '', 'PAX7', 'FOXO1', '18561177', '119', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'These data show a case of ARMS with no evidence of primary tumor presenting the PAX7-FOXO1 fusion gene..     ///    Interphase FISH analysis with specific probes evidenced a rearrangement involving the FOXO1 gene and RT-PCR identified the PAX7-FOXO1 fusion transcript. '), ('3026', 'LPP_HMGA2', 't(3;12)(q27-28;q14-15) / ', 'LPP', 'HMGA2', '19528502', '119', '', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Expression of HMGA2-LPP and LPP-HMGA2 fusion genes in lipoma: identification of a novel type of LPP-HMGA2 transcript in four cases..     ///    \"In addition to the HMGA2-LPP fusion gene, the LPP-HMGA2 fusion gene could have some specific roles for lipomagenesis. \"    ///    \"Although the expression of HMGA2-LPP fusion gene has been reported in lipomas, the reciprocal LPP-HMGA2 fusion gene has rarely been described. \"    ///    Ninety-eight cases of lipoma were analyzed for the possible expression of HMGA2-LPP and LPP-HMGA2 fusion genes using a reverse-transcription polymerase chain reaction method.     ///    \"Ten lipomas (10%) revealed both HMGA2-LPP and LPP-HMGA2 fusion transcripts, nine (9%) only HMGA2-LPP, and three (3%) only LPP-HMGA2. \"    ///    The biological implications of the expression and the variation of LPP-HMGA2 fusion transcripts need to be elucidated..     ///    \"Out of 13 lipomas with LPP-HMGA2 transcript, 9 were associated with a previously reported LPP-HMGA2 fusion transcript, which fuses exon 8 of LPP to exon 4 of HMGA2, while 4 with a novel type of LPP-HMGA2 fusion transcript, which fuses exon 7 of LPP to exon 4 of HMGA2. \"    ///    \"DNA sequencing analysis demonstrated that the HMGA2-LPP transcript in 19 lipomas consisted of exons 1-3 of HMGA2 and exons 9-11 of LPP, which was described previously. \"'), ('3027', 'VTI1A_TCF7L2', '', 'VTI1A', 'TCF7L2', '21892161', '119', 'colorectal cancer', '', '', '', '', '', 'Transcription_Factor', 'KB', '', 'We found a colorectal carcinoma cell line harboring the fusion gene to be dependent on VTI1A-TCF7L2 for anchorage-independent growth using RNA interference-mediated knockdown.     ///    Genomic sequencing of colorectal adenocarcinomas identifies a recurrent VTI1A-TCF7L2 fusion.. '), ('3028', 'ETO_AML1', 't(8;21)  / t(3;15)  / ', 'ETO', 'AML1', '9180915', '119', 'acute myeloid leukemia;myeloid leukemia;leukemia;ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Reverse transcriptase polymerase chain reaction of the AML1/ETO fusion gene product was performed in order to monitor the quality of the remission. '), ('3029', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '10992301', '119', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'A lymphoid-cell line, lacking the t(15;17) but having the PML and RARA genes in close proximity in specific phases of the cell cycle, was irradiated with 10 Gy of (60)Co, and the incidence of PML-RARA transcripts was analyzed by a highly sensitive PCR assay.     ///    \"The data thus indicate that the PML and RARA genes are not particularly susceptible to the clastogenic effects of gamma-irradiation, and that, similar to what has been reported for other chromosomal translocations, transcriptionally active PML-RARA rearrangements can be generated in normal hematopoietic cells of different lineages without apparent oncogenic consequences.. \"    ///    \"Despite gene proximity, typical PML-RARA transcripts were only rarely detected in irradiated cells. \"    ///    \"PML-RARA transcripts were observed at low frequencies in isolated lymphoid and granulocytic cell populations, with similar incidence in both cell types. \"'), ('3030', 'ETO_AML1', 't(1;21)(p32;q22) / t(8;21)(q22;q22) / t(3;21)(q26;q22) / t(12;21)(p13;q22) / t(3;21) / ', 'ETO', 'AML1', '11566347', '119', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'These rearrangements include the commonly reported t(8;21)(q22;q22) or AML1/ETO fusion in AML-M2, the t(3;21)(q26;q22) or AML1 fusion with one of three genes, MDS1, EAP or EVI1, in therapy-related AML and MDS, as well as in blast crisis in CML and the t(12;21)(p13;q22) or TEL/AML1 fusion in B-cell ALL. '), ('3031', 'MYH11_CBFB', 't(8;21)(q22;q22) / inv(16)(p13q22) / t(16;16)(p13;q22) / t(15;17)(q22;q12-21) / ', 'MYH11', 'CBFB', '18648004', '119', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The most frequent chromosome/molecular rearrangements, that is, t(8;21)(q22;q22)/RUNX1-RUNX1T1 and inv(16)(p13q22)/t(16;16)(p13;q22)/CBFB-MYH11 characteristic of core-binding factor (CBF) AML and t(15;17)(q22;q12-21)/PML-RARA characteristic of acute promyelocytic leukemia (APL), confer favorable clinical outcome when patients receive optimal treatment, that is, regimens that include high-dose cytarabine for CBF AML and all-trans-retinoic acid and/or arsenic trioxide for APL. '), ('3032', 'PLAG1_COL3A1', '', 'PLAG1', 'COL3A1', '24700772', '119', 'lipoblastoma\r\r', 'PCR', '', '', '', '', '', '', '', 'Sequence analysis revealed two novel fusion genes, COL3A1-PLAG1 in three cases and RAB2A-PLAG1 in one case, respectively. '), ('3033', 'PLAG1_COL1A2', '', 'PLAG1', 'COL1A2', '24700772', '119', 'lipoblastoma\r\r', 'PCR', '', '', '', '', '', '', '', 'We checked six tumors for the presence of two known fusion genes, HAS2-PLAG1 and COL1A2-PLAG1. '), ('3034', 'RUNX1T1_RUNX1', 't(8;21)(q22;q22) / inv(16)(p13q22) / t(16;16)(p13;q22) / t(15;17)(q22;q12-21) / ', 'RUNX1T1', 'RUNX1', '18648004', '119', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'The most frequent chromosome/molecular rearrangements, that is, t(8;21)(q22;q22)/RUNX1-RUNX1T1 and inv(16)(p13q22)/t(16;16)(p13;q22)/CBFB-MYH11 characteristic of core-binding factor (CBF) AML and t(15;17)(q22;q12-21)/PML-RARA characteristic of acute promyelocytic leukemia (APL), confer favorable clinical outcome when patients receive optimal treatment, that is, regimens that include high-dose cytarabine for CBF AML and all-trans-retinoic acid and/or arsenic trioxide for APL. '), ('3035', 'ETO_AML1', 't(8;21)  / inv(16) / ', 'ETO', 'AML1', '11243400', '119', 'leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Western blot analysis for the AML1/ETO fusion protein and fluorescent in situ hybridization (FISH) analysis for t(8;21) were performed in patients for whom we had samples.     ///    Western blot analysis showed the AML1/ETO fusion protein in four of the seven patients for whom we had samples among the eight with masked t(8;21) shown by RT-PCR.     ///    Comparison of outcome in acute myelogenous leukemia patients with translocation (8;21) found by standard cytogenetic analysis and patients with AML1/ETO fusion transcript found only by PCR testing..     ///    Five of 54 patients with NKAML had a detectable AML1/ETO fusion RNA transcript. '), ('3036', 'PAX3_FKHR', 't(2;13)(q35;q14) / t(2;13)  / ', 'PAX3', 'FKHR', '9546061', '119', 'rhabdomyosarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'These results confirm that the PAX3-FKHR transcript is specifically associated with the alveolar RMS and that it is a more sensitive marker of the t(2;13) than the reciprocal product FKHR-PAX3.     ///    \"PAX3-FKHR was found in 11 of 15 alveolar RMS, 7 of which were positive also for the reciprocal transcript, whereas no RMS expressed FKHR-PAX3 alone. \"    ///    \"Furthermore, the finding of PAX3 expression with or without PAX3-FKHR transcript in the great majority of the cases raises the question of whether PAX3 expression could play a role in the pathogenesis of RMS.. \"    ///    As a consequence of the rearrangement two chimeric transcripts originate: FKHR-PAX3 and PAX3-FKHR. '), ('3037', 'MLL_ENL', 't(4;11)  / t(9;11)  / t(11;19)  / ', 'MLL', 'ENL', '15285614', '119', 'leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'The microarray was designed to detect the five most common MLL rearrangements: t(4;11) MLL/AF4, t(9;11) MLL/AF9, t(11;19) MLL/ELL, t(11;19) MLL/ENL, and dup(11) MLL/MLL. '), ('3038', 'RUNX1_ETV6', 't(12;21)(p13;q22) / t(12;21)  / t(12;21) / ', 'RUNX1', 'ETV6', '19264230', '119', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Involvement of der(12)t(12;21)(p13;q22) and as well as additional rearrangements of chromosome 12 homolog in ETV6/RUNX1-positive acute lymphoblastic leukemia.. '), ('3039', 'TEL_AML1', 't(1;21)(p32;q22) / t(8;21)(q22;q22) / t(3;21)(q26;q22) / t(12;21)(p13;q22) / t(3;21) / ', 'TEL', 'AML1', '11566347', '119', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'These rearrangements include the commonly reported t(8;21)(q22;q22) or AML1/ETO fusion in AML-M2, the t(3;21)(q26;q22) or AML1 fusion with one of three genes, MDS1, EAP or EVI1, in therapy-related AML and MDS, as well as in blast crisis in CML and the t(12;21)(p13;q22) or TEL/AML1 fusion in B-cell ALL. '), ('3040', 'MLL_ELL', 't(4;11)  / t(9;11)  / t(11;19)  / ', 'MLL', 'ELL', '15285614', '119', 'leukemia\r\r', 'PCR', '', '', '', '', '', 'KB', 'Seq', 'The microarray was designed to detect the five most common MLL rearrangements: t(4;11) MLL/AF4, t(9;11) MLL/AF9, t(11;19) MLL/ELL, t(11;19) MLL/ENL, and dup(11) MLL/MLL. '), ('3041', 'PLAG1_HAS2', '', 'PLAG1', 'HAS2', '24700772', '119', 'lipoblastoma\r\r', 'PCR', '', '', '', '', '', '', '', 'We checked six tumors for the presence of two known fusion genes, HAS2-PLAG1 and COL1A2-PLAG1.     ///    Only HAS2-PLAG1 was found in one of the cases. '), ('3042', 'YAP1_TFE3', '1p36.3 / ', 'YAP1', 'TFE3', '26414223', '119', 'sarcoma;epithelioid hemangioendothelioma;epithelioid hemangioendothelioma\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'a small subset (<5%) have a YAP1-TFE3 fusion gene. '), ('3043', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '26478752', '119', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', ' Prostate cancer (PC) can be stratified into distinct molecular subtypes based on TMPRSS2-ERG gene fusion status, but its potential prognostic value remains controversial. '), ('3044', 'RARA_PML', 't(8;21)(q22;q22) / inv(16)(p13q22) / t(16;16)(p13;q22) / t(15;17)(q22;q12-21) / ', 'RARA', 'PML', '18648004', '119', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The most frequent chromosome/molecular rearrangements, that is, t(8;21)(q22;q22)/RUNX1-RUNX1T1 and inv(16)(p13q22)/t(16;16)(p13;q22)/CBFB-MYH11 characteristic of core-binding factor (CBF) AML and t(15;17)(q22;q12-21)/PML-RARA characteristic of acute promyelocytic leukemia (APL), confer favorable clinical outcome when patients receive optimal treatment, that is, regimens that include high-dose cytarabine for CBF AML and all-trans-retinoic acid and/or arsenic trioxide for APL. '), ('3045', 'TEL_JAK2', '', 'TEL', 'JAK2', '18848530', '119', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'TEL-Jak2 gene fusion, which has been identified in human leukemia, encodes a chimeric protein endowed with constitutive tyrosine kinase activity.     ///    Expression of TEL-Jak2 protects Ba/F3 cells from IL-3 withdrawal-induced apoptotic cell death and leads to IL-3-independent growth. '), ('3046', 'TEL_JAK2', '', 'TEL', 'JAK2', '17192390', '119', 'T cell leukemia', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' The TEL-JAK2 gene fusion, which has been identified in human leukemia, encodes a chimeric protein endowed with constitutive tyrosine kinase activity.     ///    This disease is similar to the bona fide TEL-JAK2 disease as assessed by phenotypic and gene profiling analyses.     ///    \"Pre-TCR signaling synergizes with TEL-JAK2 to transform immature thymocytes and initiate leukemogenesis as shown by (1) the delayed leukemia onset in Rag2-, CD3epsilon- and pTalpha-deficient mice, (2) the occurrence of recurrent chromosomal alterations in pre-TCR-deficient leukemia, and (3) the correction of delayed leukemia onset in Rag2-deficient TEL-JAK2 mice by an H-Y TCRalphabeta transgene that mimics pre-TCR signaling. \"    ///    \"TEL-JAK2 transforms immature CD4(-)CD8(-) double-negative thymocytes, as demonstrated by the development of T-cell leukemia with full penetrance in a Rag2-deficient genetic background. \"    ///    TEL-JAK2 transgenic expression in the mouse lymphoid lineage results in fatal and rapid T-cell leukemia/lymphoma.     ///    Pre-TCR expression cooperates with TEL-JAK2 to transform immature thymocytes and induce T-cell leukemia.. '), ('3047', 'BCL2_IGH', 't(14;18)  / t(14;18) / ', 'BCL2', 'IGH', '1497088', '119', 'follicular lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In non-malignant tissues, the polymerase chain reaction was used to study the frequency of bcl-2/IgH rearrangements in reactive lymphoid tissue obtained from American and Japanese patients to find out whether geographic variation in the incidence of follicular lymphoma was caused by differences in sporadic occurrence of the t(14;18).     ///    \"Recently, bcl-2/IgH rearrangements have been detected in reactive lymphoid tissue obtained from European patients, indicating that such rearrangements occur at some low but measurable background rate. \"'), ('3048', 'MYC_IGH', 't(6;20) / t(8;14)  / ', 'MYC', 'IGH', '21412927', '119', 'lymphoma\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'We have molecularly characterized the recently established Burkitt lymphoma cell line BLUE-1 that carries a t(6;20)(q15;q11.2) rearrangement in addition to the typical t(8;14) with MYC-IGH fusion. '), ('3049', 'CALM_AF10', 'del(11)(p12p13) / t(11;14) (p13;q11) / t(7;11)(q35;p13) / ', 'CALM', 'AF10', '16873670', '119', 'T ALL\r\r', '', '', '', '', '', '', '', '', 'LMO2 rearrangements, including this del(11)(p12p13) and t(11;14) (p13;q11) or t(7;11)(q35;p13), were found in the absence of other recurrent cytogenetic abnormalities involving HOX11L2, HOX11, CALM-AF10, TAL1, MLL, or MYC. '), ('3050', 'ETO_AML1', 't(8;21)  / t(8;21) / ', 'ETO', 'AML1', '7541640', '118', '', 'PCR', '', '', '', '', '', '', '', 'Identification of two transcripts of AML1/ETO-fused gene in t(8;21) leukemic cells and expression of wild-type ETO gene in hematopoietic cells.. '), ('3051', 'MLL_AF6', 't(6;11)(q27;q23) / t(6;11)(q27;23) / t(6;11)  / ', 'MLL', 'AF6', '8703846', '118', 'acute myeloid leukemia;T cell lymphoma;myeloid leukemia;leukemia;lymphoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Reverse transcriptase-polymerase chain reaction (RT-PCR) using an MLL sense primer and an AF6 antisense primer detected the MLL/AF6 fusion cDNA from three leukemia patients with the t(6;11) [two AML and one T-acute lymphoblastic leukemia (ALL)] and one cell line. '), ('3052', 'MYH11_CBFB', 'inv(16)(p13q22) / inv(16)  / ', 'MYH11', 'CBFB', '7919348', '118', 'acute myeloid leukemia', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'These results confirm that CBFB/MYH11 transcripts (with a predominant type A form) are present in most cases of inv(16) AML.     ///    The clinical relevance of persistent CBFB/MYH11 fusion transcripts in remission remains to be established by studying a large prospective series of patients.     ///    \"To assess the presence of type A CBFB/MYH11 fusion transcripts in five AML-M4Eo patients in remission, we designed a sensitive assay combining nested PCR and allele-specific amplification (NPASA). \"    ///    \"We have analyzed 24 patients with AML-M4Eo at diagnosis and 47 patients with AML of other FAB subtypes, by a reverse-transcriptase polymerase chain reaction (RT-PCR) assay for the CBFB/MYH11 fusion mRNAs. \"'), ('3053', 'MYH11_CBFB', 't(9;22) / inv(16) / t(8;21) / ', 'MYH11', 'CBFB', '21275954', '118', '', '', '', '', '', '', '', '', '', 'We identified five cases of Philadelphia positive subclones in AML occurring in coincidence with other genetic lesions: 1:220 patients with inv(16)/CBFB-MYH11 (0??5%), 2:272 AML cases with t(8;21)/RUNX1-RUNX1T1 (0??7%), 1:1029 NPM1-mutated AML (0??1%), and one patient with s-AML following MDS with a 5q-deletion. '), ('3054', 'RUNX1T1_RUNX1', 't(9;22) / inv(16) / t(8;21) / ', 'RUNX1T1', 'RUNX1', '21275954', '118', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'We identified five cases of Philadelphia positive subclones in AML occurring in coincidence with other genetic lesions: 1:220 patients with inv(16)/CBFB-MYH11 (0??5%), 2:272 AML cases with t(8;21)/RUNX1-RUNX1T1 (0??7%), 1:1029 NPM1-mutated AML (0??1%), and one patient with s-AML following MDS with a 5q-deletion. '), ('3055', 'BCR_ABL1', 't(9;22) / t(9;22)  / ', 'BCR', 'ABL1', '25741382', '118', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The explanation involved an initial t(9;22) translocation with breakpoints distant from the BCR and ABL1 genes followed by genomic deletions that produced the BCR-ABL1 hybrid gene. '), ('3056', 'SYT_SSX2', '', 'SYT', 'SSX2', '12485482', '118', 'synovial sarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', '18) was detected in both cases, which generated SYT-SSX1 and SYT-SSX2 fusion gene respectively. '), ('3057', 'SYT_SSX1', '', 'SYT', 'SSX1', '12485482', '118', 'synovial sarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', '18) was detected in both cases, which generated SYT-SSX1 and SYT-SSX2 fusion gene respectively. '), ('3058', 'PPAR_PAX8', 't(2;3)(q13;p25) / ', 'PPAR', 'PAX8', '12161538', '118', 'thyroid carcinoma\r\r', 'PCR;RT-PCR', '', '', '', 'Receptor', '', '', '', ' Recently, a translocation t(2;3)(q13;p25), leading to the formation of a chimeric PAX8-peroxisome proliferator-activated receptor (PPAR)gamma 1 oncogene, was detected in follicular thyroid carcinomas (FTC), but not in follicular thyroid adenomas (FTA), papillary thyroid carcinomas (PTC), or multinodular hyperplasias. '), ('3059', 'RET_PTC', '', 'RET', 'PTC', '20951315', '118', 'thyroid adenoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'These structural changes lead to the formation of fusion genes RET-PTC, TRK(-T), and BRAF-AKAP9, which originate as a result of intrachromosomal or interchromosomal rearrangements and are found in papillary thyroid carcinoma. '), ('3060', 'RAC1_COL12A1', '', 'RAC1', 'COL12A1', '26517539', '118', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'This study identifies the variant complex fusion genesNUP214-RAC1 and RAC1- COL12A1 in a case of AML.     ///    \"NUP214-RAC1 and RAC1-COL12A1 Fusion in Complex Variant Translocations Involving Chromosomes 6, 7 and 9 in an Acute Myeloid Leukemia Case with DEK-NUP214.. \"    ///    \"RT-PCR analysis confirmed the expression of DEK-NUP214, NUP214-RAC1, RAC1-COL12A1, NUP214, and RAC1. \"'), ('3061', 'SYT_SSX1', 'p11.2;q11.2 / ', 'SYT', 'SSX1', '10565298', '117', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Even if recent data has implicated that the type of fusion gene (SYT/SSX1 or SYT/SSX2) can be of prognostic importance, the cellular and molecular mechanisms underlying the clinical behavior of synovial sarcoma are still poorly understood.     ///     The t(X;18)(p11.2;q11.2) (SYT/SSX1 or SSX2) is represented in more than 95% of synovial sarcoma. '), ('3062', 'FUS_ERG', 't(16;21)(p11;q22) / t(16;21) / t(16;21)  / ', 'FUS', 'ERG', '20694842', '117', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', ' The translocation t(16;21)(p11;q22) is rare, occurs with an incidence of 1%, in acute myeloid leukemia (AML), forming TLS/FUS-ERG fusion transcript, and it is known to cause the hemophagocytosis and vacuolation of leukemic cells.     ///    \"All of these 3 patients showed the fusion transcript TLS/FUS-ERG, which was detected by multiplex or nested PCR. \"'), ('3063', 'SYT_SSX1', 'p11;q11 / ', 'SYT', 'SSX1', '15069540', '117', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' Synovial sarcomas (SS) consistently show a characteristic chromosomal translocation, t(X;18)(p11;q11), which usually leads to the formation of 2 chimeric fusion transcripts, SYT-SSX1 and -SSX2. '), ('3064', 'TEL_AML1', '', 'TEL', 'AML1', '16630339', '117', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', '', '', '', '', '', '', '', '', 'We analysed Guthrie cards of 12 ALL patients aged 2-6 years using immunoglobulin (Ig) and T-cell receptor (TCR) gene rearrangements (n = 15) and/or intronic breakpoints of TEL/AML1 fusion gene (n = 3).     ///    TEL/AML1 n = 1) in the Guthrie card. '), ('3065', 'TEL_AML1', 't(4;11)  / ', 'TEL', 'AML1', '11328289', '117', '', '', '', '', '', '', '', '', '', 'Organomegaly, haemoglobin concentration, French--American--British type, body mass index, presence of central nervous system disease at diagnosis, immunophenotype and presence of TEL/AML1 fusion gene (examined in a subset of 659 patients) either had no significant effect on outcome or were significant only in univariate analysis. '), ('3066', 'TEL_AML1', 't(12;21)(p13;q22) / ', 'TEL', 'AML1', '8943861', '117', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The TEL/AML1 fusion results from a t(12;21)(p13;q22) chromosomal translocation, but was undetectable at the routine cytogenetic level.     ///    \" Polymerase chain reaction-based screening of childhood acute lymphoblastic leukemia (ALL) samples showed that a TEL/AML1 fusion transcript was detected in 27% of all cases, representing the most common known gene rearrangement in childhood cancer. \"    ///    \"Most importantly, TEL/AML1-positive children had a significantly lower rate of relapse compared with TEL/AML1-negative patients (0/22 v 16/54, P = .004). \"    ///    \"TEL/AML1-positive patients had exclusively B-lineage ALL, and most patients were between the ages of 2 and 9 years at diagnosis. \"    ///    The elucidation of the precise mechanism of transformation by TEL/AML1 and the role of TEL/AML1 testing in the treatment of childhood ALL will require additional studies..     ///    Only 3/89 (3.4%) adult ALL patients were TEL/AML1-positive. '), ('3067', 'RUNX1_EVI1', 't(3;21)(q26;q22) / t(3;21) / ', 'RUNX1', 'EVI1', '19016745', '117', 'acute myeloid leukemia;chronic myeloid leukemia', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Role of the RUNX1-EVI1 fusion gene in leukemogenesis..     ///    These results suggest that RUNX1-EVI1 plays indispensable roles in leukemogenesis of t(3;21)-positive leukemia.     ///     RUNX1-EVI1 is a chimeric gene generated by t(3;21)(q26;q22) observed in patients with aggressive transformation of myelodysplastic syndrome or chronic myelogenous leukemia.     ///    \"RUNX1-EVI1 has oncogenic potentials through dominant-negative effect over wild-type RUNX1, inhibition of Jun kinase (JNK) pathway, stimulation of cell growth via AP-1, suppression of TGF-beta-mediated growth inhibition and repression of C/EBPalpha. \"    ///    \"Runx1-EVI1 heterozygous knock-in mice die in uteri due to central nervous system (CNS) hemorrhage and severe defects in definitive hematopoiesis as Runx1-/- mice do, indicating that RUNX1-EVI1 dominantly suppresses functions of wild-type RUNX1 in vivo. \"    ///    Major leukemogenic effect of RUNX1-EVI1 is mainly through histone deacetyltransferase recruitment via C-terminal binding protein.     ///    \"Acute myelogenous leukemia is induced in mice transplanted with bone marrow cells expressing RUNX1-EVI1, and a Runx1-EVI1 knock-in chimera mouse developed acute megakaryoblastic leukemia. \"'), ('3068', 'RUNX1_ETV6', 't(12;21)(p13;q22) / t(12;21) / ', 'RUNX1', 'ETV6', '16965388', '117', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'High incidence of the ETV6/RUNX1 fusion gene in paediatric precursor B-cell acute lymphoblastic leukaemias with trisomy 21 as the sole cytogenetic change: a Nordic series of cases diagnosed 1989-2005..     ///    The occurrence of ETV6/RUNX1 was determined in 66 childhood ALLs with an acquired +21 and a chromosome number <51.     ///    \"Thus, the prognostic impact of +21 is not attributable to cryptic ETV6/RUNX1.. \"    ///     Trisomy 21 is common in ETV6/RUNX1-positive acute lymphoblastic leukaemia (ALL).     ///    ETV6/RUNX1 was found in 45% of cases and in the majority (10/18. '), ('3069', 'USP6_COL1A1', 't(16;17)(q22;p13) / t(17;17)  / ', 'USP6', 'COL1A1', '18068538', '117', 'bone cyst\r\r', '', '', '', '', '', '', '', '', 'Fusion genes of several variant translocations have been reported in ABC, including a case with t(17;17) and COL1A1-USP6 fusion.     ///    \"Fusion genes of several variant translocations have been reported in ABC, including a case with t(17;17) and COL1A1-USP6 fusion.\"    ///    Here we report a second case of a bone tumor carrying a t(17;17) resulting in a COL1A1-USP6 chimeric gene. '), ('3070', 'SYT_SSX2', 'p11.2;q11.2 / ', 'SYT', 'SSX2', '10565298', '117', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Even if recent data has implicated that the type of fusion gene (SYT/SSX1 or SYT/SSX2) can be of prognostic importance, the cellular and molecular mechanisms underlying the clinical behavior of synovial sarcoma are still poorly understood. '), ('3071', 'IGH_CCND1', 't(11;14) / t(11;14)  / ', 'IGH', 'CCND1', '11793447', '117', 'mantle cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Unusual case of leukemic mantle cell lymphoma with amplified CCND1/IGH fusion gene..     ///    \"This is to our knowledge the first description of amplification of the CCND1/IGH fusion gene in a human neoplasm, which may have played a role in the fulminating course of the disease in this patient.. \"    ///     We describe a case of leukemic mantle cell lymphoma (MCL) with complex karyotype and amplification of the CCND1/IGH fusion gene. '), ('3072', 'ETO_AML1', 't(15;17) / t(8;21) / inv(16)  / ', 'ETO', 'AML1', '15226186', '117', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', '', '', '', '', '', '', '', '', 'Class discriminating genes were identified for each of the major prognostic subtypes of pediatric AML, including t(15;17)[PML-RARalpha], t(8;21)[AML1-ETO], inv(16) [CBFbeta-MYH11], MLL chimeric fusion genes, and cases classified as FAB-M7. '), ('3073', 'SYT_SSX1', 'p11.2;q11.2 / ', 'SYT', 'SSX1', '12063544', '117', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'A subsequent sequence analysis using the PCR products confirmed that the detected messages were derived from the SYT-SSX1 fusion gene. '), ('3074', 'BCR_ABL1', 't(9;22) / 7p21.1 / ', 'BCR', 'ABL1', '23036696', '117', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Chronic myeloid leukemia (CML) is characterized by the BCR-ABL1 fusion gene. '), ('3075', 'MOZ_CBP', 't(8;16)(p11;p13) / t(8;16)  / ', 'MOZ', 'CBP', '15101047', '117', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Type I MOZ/CBP (MYST3/CREBBP) is the most common chimeric transcript in acute myeloid leukemia with t(8;16)(p11;p13) translocation..     ///    \"This is the largest molecularly studied AML-t(8;16) series, which demonstrates that MOZ/CBP breakpoints are usually clustered in intron 16 of MOZ and intron 2 of CBP. \"    ///    \"Using a new RT-PCR strategy, we were able to amplify a specific band of 212 bp in six cases in which sequence analysis confirmed the presence of the previously described MOZ/CBP fusion transcript type I. \"    ///    The newly designed single-round PCR provides a simple tool for the molecular confirmation of MOZ/CBP rearrangement..     ///    \"RT-PCR amplification of MOZ/CBP (MYST3/CREBBP) chimera has proved difficult, with four different transcripts found in four reported cases. \"');
INSERT INTO `ChimerPub_dump` VALUES ('3076', 'MYH1_CBFB', 'inv(16)  / ', 'MYH1', 'CBFB', '7653231', '117', '', 'PCR', '', '', '', '', '', '', '', '21) AML and CBFB/MYH1 in inv(16) AML). '), ('3077', 'EML4_ALK', '1p34.3 / 7p21.1 / 16p13.3 / 9p21.3 / 9p23-24.1 / ', 'EML4', 'ALK', '23289484', '117', 'adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' A subset of lung adenocarcinomas harboring an EML4-ALK fusion gene resulting in dominant oncogenic activity has emerged as a target for specific therapy.     ///    EML4-ALK fusion confers a characteristic histology and is detected more frequently in never or light smokers and younger patients. '), ('3078', 'MOZ_CBP', 't(11;16)(q23;p13) / t(11;16)  / t(8;16)(p11;p13) / t(8;16) / ', 'MOZ', 'CBP', '9166831', '117', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', '', '', '', '', '', '', '', '', 'Our results combined with the finding of the MOZ-CBP fusion in t(8;16)-AML suggest that the CBP gene may be associated with leukemogenesis through translocations.. '), ('3079', 'FUS_ERG', 'p11;q22 / t(16;21) (p11;q22) / ', 'FUS', 'ERG', '27033758', '117', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'All cases could be detected TLS/FUS-ERG fusion genes. '), ('3080', 'ETO_AML1', 't(8;21) / ', 'ETO', 'AML1', '12487837', '117', 'chloroma', '', '', '', '', '', '', '', '', 'As in most cases of pediatric acute myeloid leukemia with chloroma, the AML1/ETO fusion gene was found, which portended a not unfavorable prognosis. '), ('3081', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '21632108', '117', '', '', '', '', '', '', '', '', '', 'AML1-ETO fusion gene and mutated KIT act as \"two-hit\" factors in Kasumi-1 cells.     ///    Histone deacetylation (HDAC) inhibitors sodium phenylbutyrate (PB) and valproic acid (VPA) block AML1-ETO. '), ('3082', 'DEK_CAN', 't(15;17)  / t(6;9)  / t(1;19)  / ', 'DEK', 'CAN', '8350633', '117', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'Maximal specificity is presumably achieved when the DNA sequences amplified are truly leukaemia-specific, such as BCR/ABL in chronic myelogenous leukemia, RARA PML/RARA in t(15;17) acute myelogenous leukemia, DEK/CAN in t(6;9) AML, PBX1/E2A in t(1;19) acute lymphoblastic leukemia (ALL), or TAL-1 deletions in other T-ALLs. '), ('3083', 'MLL_ENL', 't(11;19) / ', 'MLL', 'ENL', '10458233', '117', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Childhood acute lymphoblastic leukemia with the MLL-ENL fusion and t(11;19)(q23;p13.3) translocation..     ///    \"Although all of the cases examined had MLL rearrangements and MLL-ENL fusion transcripts, outcome varied according to age and immunophenotype. \"    ///    Molecular analyses were performed on these cases to determine the status of the MLL gene and the presence of the MLL-ENL fusion transcript.     ///    \"Although MLL gene rearrangements are generally associated with a dismal outcome in ALL, two distinct subsets with MLL-ENL fusions have an excellent prognosis. \"'), ('3084', 'PDGFRA_BCR', 't(4;22) / ', 'PDGFRA', 'BCR', '26095243', '117', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'To date, only eight cases of hematolymphoid neoplasms with the BCR-PDGFRA fusion gene have been reported.     ///     The BCR-PDGFRA fusion is a very rare event.     ///    BCR-PDGFRA fusion in a T lymphoblastic leukemia/lymphoma.. '), ('3085', 'ETV6_CBFA2', 't(9;22) / t(1;19) / t(4;11)  / t(12;21) / ', 'ETV6', 'CBFA2', '15024455', '117', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Our aim is to develop a highly sensitive and specific method to screen simultaneously for the four most frequent fusion transcripts resulting from specific chromosomal translocations, namely, both the CML- and ALLtype BCR-ABL transcripts of t(9;22), E2A-PBX1 transcript of t(1;19), the MLL-AF4 transcript of t(4;11) and TEL-AML1 (also termed ETV6-CBFA2) of the cryptic t(12;21). '), ('3086', 'TEL_AML1', 't(12;21) / ', 'TEL', 'AML1', '22094584', '117', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Herein, we report the first unbiased sequencing of the whole exome of two cases of pediatric ALL carrying the ETV6/RUNX1 (TEL/AML1) fusion gene (the most common genetic subtype) and corresponding normal samples.     ///    \"Twelve mutations (86%) occurred in genes previously described to be mutated in other types of cancer, but none was found to be recurrent in an extended series of 29 ETV6/RUNX1-positive ALLs. \"'), ('3087', 'BCR_ABL1', 't(5;9;22)(q13;q34;q11) / ', 'BCR', 'ABL1', '17415872', '117', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The molecular variant of the fusion gene BCR/ ABL or the rare involvement of chromosome 5 could possibly explain the mild course of the disease.. '), ('3088', 'GLIS2_CBFA2T3', 't(1;22)(p13;q13) / ', 'GLIS2', 'CBFA2T3', '23045605', '117', 'leukemia;down syndrome\r\r', '', '', '', '', '', '', '', '', 'A novel CBFA2T3-GLIS2 fusion gene resulting from a cryptic inversion of chromosome 16 was identified in another subgroup of 31% of non-Down syndrome AMKL and strongly associated with a gene expression signature of Hedgehog pathway activation. '), ('3089', 'ETO_AML1', 't(8;21) / t(8;21)  / ', 'ETO', 'AML1', '8616078', '117', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Molecular detection of t(8;21)/AML1-ETO in AML M1/M2: correlation with cytogenetics, morphology and immunophenotype..     ///    \"AML1-ETO positive, t(8;21) negative cases are well recognized but their incidence is unknown. \"    ///    \"We conclude that initial routine prospective molecular screening for AML1-ETO in all AMLs, combined with standardized morphological and immunological analysis, is desirable in order to produce improved prognostic stratification and to determine whether screening can ultimately be restricted to appropriate subgroups.. \"    ///    \"AML1-ETO was found in 3% (1/32) of AML M1 and 25% (8/32) of M2, including three patients without a classic (8;21) but with chromosome 8 abnormalities. \"    ///    \"In order to determine optimal prospective AML1-ETO RT-PCR screening strategies, we analysed 64 unselected AML M1 and M2 cases and correlated the results with other biological parameters. \"'), ('3090', 'MYST3_CREBBP', 't(8;16)(p11;p13) / t(8;16)  / ', 'MYST3', 'CREBBP', '15101047', '117', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', 'KB', '', 'Type I MOZ/CBP (MYST3/CREBBP) is the most common chimeric transcript in acute myeloid leukemia with t(8;16)(p11;p13) translocation..     ///    \"RT-PCR amplification of MOZ/CBP (MYST3/CREBBP) chimera has proved difficult, with four different transcripts found in four reported cases. \"'), ('3091', 'RUNX1_ETV6', 'del(6q)  / ', 'RUNX1', 'ETV6', '20513752', '117', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' The ETV6/RUNX1 fusion gene, present in 25% of B-lineage childhood acute lymphoblastic leukemia (ALL), is thought to represent an initiating event, which requires additional genetic changes for leukemia development.     ///    The correlation pattern of acquired copy number changes in 164 ETV6/RUNX1-positive childhood acute lymphoblastic leukemias..     ///    \"To identify additional genetic alterations, 24 ETV6/RUNX1-positive ALLs were analyzed using 500K single nucleotide polymorphism arrays. \"    ///    \"However, the combined analysis also identified alterations affecting nuclear hormone response (24%) to be a characteristic feature of ETV6/RUNX1-positive ALL. \"'), ('3092', 'PAX3_FOXO1', 't(2;13)(q36;q14) / ', 'PAX3', 'FOXO1', '26179572', '117', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'Molecular Cytogenetics Detect an Unbalanced t(2;13)(q36;q14) and PAX3-FOXO1 Fusion in Rhabdomyosarcoma With Mixed Embryonal/Alveolar Features..     ///    \"Fluorescence in situ hybridization (FISH) detected losses of 3\'PAX3 and 5\'FOXO1, suggesting they had undergone an unbalanced rearrangement that probably produced the PAX3-FOXO1 fusion. \"    ///    \"Double-color FISH and reverse transcription-polymerase chain reaction (RT-PCR) revealed PAX3-FOXO1, which is characteristic of high-risk RMS. \"'), ('3093', 'ETO_CDR', 't(8;21)  / ', 'ETO', 'CDR', '9447981', '117', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'In the t(8;21) translocation associated with acute myeloid leukemia (AML), the AML1(CBFA2/PEBP2alphaB) gene is juxtaposed to the MTG8(ETO/CDR) gene.     ///    \"The AML1-MTG8 leukemic fusion protein forms a complex with a novel member of the MTG8(ETO/CDR) family, MTGR1.. \"'), ('3094', 'BCR_ABL1', 't(6;12)(q12;p13) / ', 'BCR', 'ABL1', '23126027', '117', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Because overlapping features, morphological findings in bone marrow, BCR-ABL1 fusion gene, V617F JAK2 mutation and cytogenetic abnormalities were analyzed in ten patients diagnosed with MPN,U. '), ('3095', 'PAX7_FKHR', '11p15.5 / ', 'PAX7', 'FKHR', '10935489', '117', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Loss of imprinting (LOI) of the IGF2 gene was detected in 6 of 13 informative cases, all harbouring PAX3-FKHR or PAX7-FKHR fusion genes characteristic of alveolar histology. '), ('3096', 'PAX3_FKHR', '11p15.5 / ', 'PAX3', 'FKHR', '10935489', '117', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Loss of imprinting (LOI) of the IGF2 gene was detected in 6 of 13 informative cases, all harbouring PAX3-FKHR or PAX7-FKHR fusion genes characteristic of alveolar histology. '), ('3097', 'PBX1_E2A', 't(15;17)  / t(6;9)  / t(1;19)  / ', 'PBX1', 'E2A', '8350633', '117', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', '', '', '', 'Transcription_Factor', '', '', 'Maximal specificity is presumably achieved when the DNA sequences amplified are truly leukaemia-specific, such as BCR/ABL in chronic myelogenous leukemia, RARA PML/RARA in t(15;17) acute myelogenous leukemia, DEK/CAN in t(6;9) AML, PBX1/E2A in t(1;19) acute lymphoblastic leukemia (ALL), or TAL-1 deletions in other T-ALLs. '), ('3098', 'MECOM_AML1', 't(3;3)(q21;q26) / inv(3)(q21q26) / t(3;21)(q26;q22) / t(3;21) / ', 'MECOM', 'AML1', '8643684', '116', 'myeloid leukemia;leukemia;retinoblastoma\r\r', '', '', 'Oncogene', '', '', '', '', '', 'In cells with t(3;21), additional fusion transcripts are AML1-MDS1 and AML1-MDS1-EVI1. '), ('3099', 'EML4_ALK', 't(2;5)(p23;q35) / inv(2)(p21;p23) / ', 'EML4', 'ALK', '25727400', '116', 'non small cell lung cancer;anaplastic large cell lymphoma;small cell lu\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'About 80% of ALK-positive anaplastic large-cell lymphoma (ALCL) cases are characterized by the t(2;5)(p23;q35) translocation, encoding for the aberrant fusion protein nucleophosmin (NPM)-ALK, whereas 5% of non-small-cell lung cancer (NSCLC) patients carry the inv(2)(p21;p23) rearrangement, encoding for the echinoderm microtubule-associated protein-like 4 (EML4)-ALK fusion.     ///    Activity of second-generation ALK inhibitors against crizotinib-resistant mutants in an NPM-ALK model compared to EML4-ALK.    ///    Activity of second-generation ALK inhibitors against crizotinib-resistant mutants in an NPM-ALK model compared to EML4-ALK.. '), ('3100', 'MLL_CASC5', 't(11;15)(q23;q14-15) / ', 'MLL', 'CASC5', '24425691', '116', '', '', '', '', '', '', '', 'KB', '', 'Molecular characterization and clinical impact of t(11;15)(q23;q14-15) MLL-CASC5 rearrangement.. '), ('3101', 'NUP98_HOXA9', 't(7;11) / t(7;11)  / ', 'NUP98', 'HOXA9', '9074407', '116', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Recently, a consistent chimaeric fusion transcript NUP98-HOXA9 was found in several cases of t(7;11).     ///    The molecular detection of NUP98-HOXA9 fusion transcript would be a useful method for the diagnosis of t(7;11) and also for monitoring disease status after treatment..     ///    NUP98-HOXA9 fusion transcript was detected in both patients who had molecular analysis and the breakpoints on chromosome 11 and 7 respectively were similar to those previously reported. '), ('3102', 'TAL1_SIL', '', 'TAL1', 'SIL', '9275514', '116', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', '', '', '', 'Transcription_Factor', '', '', 'In addition, we performed comparative study of MRD detection by using both T cell receptor (TCR) gamma gene as gene specific marker and SIL-TAL-1 fusion gene as tumor-specific marker in one T-ALL patient. '), ('3103', 'EML4_ALK', '', 'EML4', 'ALK', '23951022', '116', 'non small cell lung cancer;lung cancer\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Recently Echinoderm microtubule-associated protein-like 4- anaplastic lymphoma kinase (EML4-ALK) fusion gene has become an important biomarker for ALK tyrosine kinase inhibitor (crizotinib) treatment in NSCLC.     ///    \"Variants 3a+3b (4/5, 80%) of EML4-ALK fusion gene were more common to have high abundance of EML4-ALK positive cells in tumor tissues than variant 1 (1/3, 33.3%). \"    ///    \"Among the three detection methods, RT-PCR could detect not only the presence of EML4-ALK fusion gene and their variant types, but also the abundance of EML4-ALK positive cells in NSCLC tumor tissues. \"    ///    \"Variants 3a+3b (4/5, 80%) of EML4-ALK fusion gene were more common to have high abundance of EML4-ALK positive cells in tumor tissues than variant 1 (1/3, 33.3%).\"    ///    \"All of the 8 patients with high abundance of EML4-ALK positive cells in tumor tissues (assessed by the signal intensities of the RT-PCR product), were also have high expression of ALK protein (IHC3+), and positive for FISH, except one failed in FISH. \"    ///    \"All of the 8 patients with high abundance of EML4-ALK positive cells in tumor tissues (assessed by the signal intensities of the RT-PCR product), were also have high expression of ALK protein (IHC3+), and positive for FISH, except one failed in FISH.\"    ///    \"However, the best detection method and the significance of EML4-ALK variant types remain uncertain. \"    ///    \"However, the best detection method and the significance of EML4-ALK variant types remain uncertain.\"'), ('3104', 'TRKC_TEL', '', 'TRKC', 'TEL', '12468912', '116', 'fibrosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'We found a high incidence of the TEL/TRKC fusion gene, confirming its utility in diagnosis.     ///    \"Cytogenetic findings were reviewed and archived tumor specimens were analyzed, when available, for the presence of the TEL/TRKC fusion gene. \"    ///    six exhibited the TEL/TRKC fusion. '), ('3105', 'ETO_AML1', '', 'ETO', 'AML1', '11684288', '116', 'chloroma;granulocytic sarcoma', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Only retrospectively, using RT-PCR, did we detect the acute myeloid leukemia subset-specific fusion gene AML1/ETO in the frozen samples of the relapsed tumor, as well as in the otherwise unaffected bone marrow and peripheral blood (representing \'minimal initial disease\' in the latter two samples).     ///    Aleukemic granulocytic sarcoma with AML1/ETO fusion gene expression and clonal T cell populations.. '), ('3106', 'FGFR3_BAIAP2L1', '4p16.3 / t(4;7)  / ', 'FGFR3', 'BAIAP2L1', '23175443', '116', 'bladder cancer', '', 'Kinase', '', '', '', '', 'KB', '', 'FGFR3-transforming acid coiled coil 3 (TACC3) fusions resulting from 4p16.3 re-arrangements and a t(4;7) that generates a FGFR3-BAI1-associated protein 2-like 1 (BAIAP2L1) fusion were identified in 4 of 43 bladder tumour cell lines and 2 of 32 selected tissue samples including the tumour from which one of the cell lines was derived. '), ('3107', 'RARA_PML', 't(1;19)  / t(4;11)  / t(8;21)  / t(9;22)  / t(12;21)  / t(15;17)  / inv (16)  / ', 'RARA', 'PML', '10602411', '116', '', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'A total of nine well-defined chromosome aberrations with fusion gene transcripts were selected: t(1;19) with E2A-PBX1, t(4;11) with MLL-AF4, t(8;21) with AML1-ETO, t(9;22) with BCR-ABL p190 and BCR-ABL p210, t(12;21) with TEL-AML1, t(15;17) with PML-RARA, inv (16) with CBFB-MYH11, and microdeletion 1p32 with SIL-TAL1. '), ('3108', 'TEL_AML1', 't(1;19)  / t(4;11)  / t(8;21)  / t(9;22)  / t(12;21)  / t(15;17)  / inv (16)  / ', 'TEL', 'AML1', '10602411', '116', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'A total of nine well-defined chromosome aberrations with fusion gene transcripts were selected: t(1;19) with E2A-PBX1, t(4;11) with MLL-AF4, t(8;21) with AML1-ETO, t(9;22) with BCR-ABL p190 and BCR-ABL p210, t(12;21) with TEL-AML1, t(15;17) with PML-RARA, inv (16) with CBFB-MYH11, and microdeletion 1p32 with SIL-TAL1. '), ('3109', 'EML4_ALK', '', 'EML4', 'ALK', '20813423', '116', 'lung cancer\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We detected an EML4-ALK fusion gene using ELF in one patient.     ///    It has been reported that the existence of EGFR mutations and EML4-ALK gene rearrangements are related to the sensitivity of corresponding kinase inhibitors.     ///    We also examined EGFR mutations and EML4-ALK rearrangement. '), ('3110', 'MYH11_CBFB', 't(1;19)  / t(4;11)  / t(8;21)  / t(9;22)  / t(12;21)  / t(15;17)  / inv (16)  / ', 'MYH11', 'CBFB', '10602411', '116', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'A total of nine well-defined chromosome aberrations with fusion gene transcripts were selected: t(1;19) with E2A-PBX1, t(4;11) with MLL-AF4, t(8;21) with AML1-ETO, t(9;22) with BCR-ABL p190 and BCR-ABL p210, t(12;21) with TEL-AML1, t(15;17) with PML-RARA, inv (16) with CBFB-MYH11, and microdeletion 1p32 with SIL-TAL1. '), ('3111', 'TAL1_SIL', 't(1;19)  / t(4;11)  / t(8;21)  / t(9;22)  / t(12;21)  / t(15;17)  / inv (16)  / ', 'TAL1', 'SIL', '10602411', '116', '', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', 'A total of nine well-defined chromosome aberrations with fusion gene transcripts were selected: t(1;19) with E2A-PBX1, t(4;11) with MLL-AF4, t(8;21) with AML1-ETO, t(9;22) with BCR-ABL p190 and BCR-ABL p210, t(12;21) with TEL-AML1, t(15;17) with PML-RARA, inv (16) with CBFB-MYH11, and microdeletion 1p32 with SIL-TAL1. '), ('3112', 'SEPT9_MLL', 't(11;17)(q23;q25) / ', 'SEPT9', 'MLL', '21846973', '116', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'De novo acute myeloid leukemia associated with t(11;17)(q23;q25) and MLL-SEPT9 rearrangement in an elderly patient: a case study and review of the literature.. '), ('3113', 'ETO_AML1', 't(1;19)  / t(4;11)  / t(8;21)  / t(9;22)  / t(12;21)  / t(15;17)  / inv (16)  / ', 'ETO', 'AML1', '10602411', '116', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'A total of nine well-defined chromosome aberrations with fusion gene transcripts were selected: t(1;19) with E2A-PBX1, t(4;11) with MLL-AF4, t(8;21) with AML1-ETO, t(9;22) with BCR-ABL p190 and BCR-ABL p210, t(12;21) with TEL-AML1, t(15;17) with PML-RARA, inv (16) with CBFB-MYH11, and microdeletion 1p32 with SIL-TAL1. '), ('3114', 'PAX7_FOXO1', 't(2;13)(q35;q14) / t(1;13)(p36;q14) / ', 'PAX7', 'FOXO1', '18973919', '116', 'rhabdomyosarcoma;sarcoma;hematologic malignancy\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'A valuable diagnostic aid and important prognostic parameter in alveolar rhabdomyosarcoma is the identification of PAX3-FOXO1 [t(2;13)(q35;q14)] or PAX7-FOXO1 [t(1;13)(p36;q14)] rearrangements.     ///    Both PAX3- and PAX7-FOXO1 alveolar rhabdomyosarcomas were identified in these patients.    ///    \"In children, PAX7-FOXO1 alveolar rhabdomyosarcoma is associated with a significantly longer event-free survival. \"'), ('3115', 'PAX3_FOXO1', 't(2;13)(q35;q14) / t(1;13)(p36;q14) / / ', 'PAX3', 'FOXO1', '18973919', '116', 'rhabdomyosarcoma;sarcoma;hematologic malignancy\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'A valuable diagnostic aid and important prognostic parameter in alveolar rhabdomyosarcoma is the identification of PAX3-FOXO1 [t(2;13)(q35;q14)] or PAX7-FOXO1 [t(1;13)(p36;q14)] rearrangements.    ///    A valuable diagnostic aid and important prognostic parameter in alveolar rhabdomyosarcoma is the identification of PAX3-FOXO1 [t(2;13)(q35;q14)] or PAX7-FOXO1 [t(1;13)(p36;q14)] rearrangements. '), ('3116', 'IGH_BCL6', 't(3;14)(q27;q32) / ', 'IGH', 'BCL6', '22867898', '116', 'B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', '', '', '', 'IGH@/BCL6 rearrangement on the der(3)t(3;14)(q27;q32) in primary mediastinal large B-cell lymphoma.. '), ('3117', 'VCFS_DGS', 'p12;q11 / ', 'VCFS', 'DGS', '9147638', '116', 'DiGeorge syndrome', '', '', '', '', '', '', '', '', 'Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocation..     ///    \"Thus, haploinsufficiency for more than one gene in the MDGCR may be etiologic for DGS/VCFS.. \"    ///    \"Further, the patient\'s partial DGS/VCFS phenotype suggests that additional features of DGS/VCFS may be attributed to other genes in the MDGCR. \"    ///    \"The patient has some features which have been reported in individuals with DGS/VCFS, including: facial dysmorphia, mental retardation, long slender digits and genital anomalies. \"'), ('3118', 'EWS_ERG', 't(1;16) / t(11,22)(q24;q12) / t(1;16)  / t(1;16) /  / ', 'EWS', 'ERG', '9049824', '116', '', '', '', '', '', '', '', '', '', ' The cytogenetic hallmark of the Ewing family of tumors is t(11,22)(q24;q12) in its simple, complex or variant forms and/or its molecular equivalent EWS/FLI, EWS/ERG rearrangement. '), ('3119', 'MYC_IGHJ', 't(6;20) / t(8;14)(q24;q32) / ', 'MYC', 'IGHJ', '16697040', '116', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'BLUE-1 carries the pathognomonic t(8;14)(q24;q32) effecting MYC/IgHJ fusion and a novel t(6;20)(q15;q11.2) originally present in the patient, analysis of which may facilitate identification of gene target(s) of recurrent 6q rearrangements in B-cell neoplasia. '), ('3120', 'HOX_LIM', 't(1;14)(q25;q32) / ', 'HOX', 'LIM', '14506703', '116', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'Aberrant expression of the LHX4 LIM-homeobox gene caused by t(1;14)(q25;q32) in chronic myelogenous leukemia in biphenotypic blast crisis..     ///    \"By use of long-distance inverse polymerase chain reaction (PCR), we cloned the chromosomal breakpoint and revealed that the immunoglobulin heavy chain gene is fused near its Emu enhancer region to the 5\' region of the LHX4 LIM-homeobox gene, whose expression is restricted to the central nervous system. \"'), ('3121', 'ZNF384_TAF15', 't(12;17)(p13;q11) / ', 'ZNF384', 'TAF15', '23206227', '116', 'acute lymphoid leukemia', '', '', '', '', '', '', '', '', 'Lineage switch from pro-B acute lymphoid leukemia to acute myeloid leukemia in a case with t(12;17)(p13;q11)/TAF15-ZNF384 rearrangement.. '), ('3122', 'FLI_EWS', 't(1;16) / t(11,22)(q24;q12) / t(1;16)  / t(1;16) /  / ', 'FLI', 'EWS', '9049824', '116', '', '', '', '', '', '', '', '', '', ' The cytogenetic hallmark of the Ewing family of tumors is t(11,22)(q24;q12) in its simple, complex or variant forms and/or its molecular equivalent EWS/FLI, EWS/ERG rearrangement. '), ('3123', 'RARA_NPM1', 't(5;17)(q35;q12) / ', 'RARA', 'NPM1', '26342691', '116', 'acute promyelocytic leukemia;leukemia;sarcoma\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'A new transcriptional variant and small azurophilic granules in an acute promyelocytic leukemia case with NPM1/RARA fusion gene..     ///    \"Reverse-transcription polymerase chain reaction amplified the NPM1/RARA fusion transcripts derived from a combination of NPM1 exon 4 and RARA exon 5, or of NPM1 exon 1 and RARA exon 5. \"    ///    \"As MS was also diagnosed in two of the seven other reported cases of APL with NPM1/RARA, MS may occur more frequently in APL with NPM1/RARA than APL with PML/RARA.. \"    ///     We report here the first case of NPM1/RARA-positive acute promyelocytic leukemia (APL) preceded by myeloid sarcoma (MS) in the vertebra. '), ('3124', 'RUNX1T1_RUNX1', 'p11.2;q22 / ', 'RUNX1T1', 'RUNX1', '19596262', '116', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'A novel four-way t(6;16;21;8)(p21.3;p11.2;q22;q22) in acute myeloid leukemia with RUNX1/RUNX1T1 rearrangement.. '), ('3125', 'FUS_DDIT3', '', 'FUS', 'DDIT3', '22567356', '116', 'dermatofibrosarcoma,', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Cytogenetic and molecular genetic analyses have shown that many of these sarcomas are characterized by recurrent chromosomal translocations resulting in highly specific fusion genes (e.g., FUS-DDIT3 in MLS, FUS-CREB3L2 in LGFMS, EWSR1-NR4A3 in EMC, and COL1A1-PDGFB in myxoid DFSP). '), ('3126', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '20362228', '116', '', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'We identified a previously undescribed clonal evolution involving t(15;17) without PML-RARA rearrangement in an AML patient. '), ('3127', 'ZNF384_TAF15', 't(12;17)(p13;q12) / ', 'ZNF384', 'TAF15', '27139620', '116', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 't(12;17)(p13;q12)/TAF15-ZNF384 Rearrangement in Acute Lymphoblastic Leukemia.. '), ('3128', 'RUNX1_ETO', 't(8;21)  / t(8;21) / ', 'RUNX1', 'ETO', '24897507', '116', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' The RUNX1/ETO (RE) fusion protein, which originates from the t(8;21) chromosomal rearrangement, is one of the most frequent translocation products found in de novo acute myeloid leukemia (AML).     ///    Activating c-KIT mutations confer oncogenic cooperativity and rescue RUNX1/ETO-induced DNA damage and apoptosis in human primary CD34+ hematopoietic progenitors.. '), ('3129', 'RUNX1T1_RUNX1', 't(8;21)(q22;q22) / inv(16)(p13q22) / t(16;16)(p13;q22) / ', 'RUNX1T1', 'RUNX1', '25635758', '116', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', ' In acute myeloid leukaemia (AML), the presence of t(8;21)(q22;q22) and inv(16)(p13q22)/t(16;16)(p13;q22) and/or the corresponding molecular rearrangements RUNX1/RUNX1T1 and CBFB/MYH11 [collectively referred to as core binding factor (CBF) AML] predict for a more favourable outcome in patients receiving cytarabine-anthracycline based induction and upon achievement of complete remission, high-dose cytarabine consolidation chemotherapy. '), ('3130', 'MYC_BCL2', 't(14;18)(q32;q21) / ', 'MYC', 'BCL2', '22002575', '116', 'follicular lymphoma;B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' B-cell lymphomas with MYC/8q24 rearrangement and IGH@BCL2/t(14;18)(q32;q21), also known as double-hit or MYC/BCL2 B-cell lymphomas, are uncommon neoplasms.     ///    \"Tumors with extra MYC signals plus IGH@BCL2 or MYC rearrangement plus extra BCL2 signals, respectively, appear to behave as poorly as MYC/BCL2 lymphomas, possibly expanding the disease spectrum.. \"    ///    We report our experience with 60 cases: 52 MYC/BCL2 B-cell lymphomas and 8 tumors with extra MYC signals plus IGH@BCL2 or MYC rearrangement plus extra BCL2 signals/copies.     ///    \"Patients with neoplasms characterized by extra MYC signals plus IGH@BCL2 (n=6) or MYC rearrangement with extra BCL2 signals (n=2) had overall survival ranging from 1.7 to 49 months, similar to patients with MYC/BCL2 lymphomas. \"    ///    \"For the 52 patients with MYC/BCL2 lymphoma, the median overall survival was 18.6 months. \"    ///    \"We conclude that MYC/BCL2 lymphomas are clinically aggressive, irrespective of their morphological appearance, with a germinal center B-cell immunophenotype. \"'), ('3131', 'NRIP3_MLL', '', 'NRIP3', 'MLL', '24509477', '116', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Using whole-genome sequencing of a pair of monozygotic twins discordant for MLL (also called KMT2A) gene-rearranged leukemia, we identified a transforming MLL-NRIP3 fusion gene and biallelic mutations in SETD2 (encoding a histone H3K36 methyltransferase). '), ('3132', 'NUP98_DDX10', 'inv(11)(p15q22) / ', 'NUP98', 'DDX10', '25368827', '116', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'The first Korean case of childhood acute myeloid leukemia with inv(11)(p15q22)/NUP98-DDX10 rearrangement: a rare but recurrent genetic abnormality.. '), ('3133', 'SLC6A8_SLC6A10P', '16p11.2 / ', 'SLC6A8', 'SLC6A10P', '24144841', '116', '', 'PCR', '', '', '', '', '', '', '', 'A duplicated unprocessed pseudogene of SLC6A8-SLC6A10P has been mapped to chromosome 16p11.2 (contains the entire SLC6A8 gene, plus 2293 bp of 5\'flanking sequence and its entire 3\'UTR). '), ('3134', 'RUNX1_ETV6', 't(12;21)  / t(1;19) / ', 'RUNX1', 'ETV6', '22005784', '116', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'In 18 sibships with successful karyotyping in both cases, six were concordant for high-hyperdiploidy (N = 3), t(12;21) [ETV6/RUNX1] (N = 1), MLL rearrangement (N = 1) or t(1;19)(q23/p13) (N = 1). '), ('3135', 'MYH11_CBFB', 'inv(16)(p13q22) / inv(16) (p13q22) / t(16;16)(p13;q22) / ', 'MYH11', 'CBFB', '7795233', '116', 'leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'RT-PCR diagnosis of patients with acute nonlymphocytic leukemia and inv(16)(p13q22) and identification of new alternative splicing in CBFB-MYH11 transcripts..     ///    \"In all of 27 inv(16)(p13q22) and four t(16;16)(p13;q22) cases tested, a chimeric CBFB-MYH11 transcript coding for an in-frame fusion protein was detected. \"    ///    The CBFB-MYH11 reading frame of the second transcript was maintained in one patient but not in the others.     ///    We show that the different CBFB-MYH11 transcripts in one patient arise from alternative splicing.     ///    Translation of the transcript in which the CBFB-MYH11 reading frame is not maintained leads to a slightly truncated CBFB protein..     ///    \"In a more extensive RT-PCR analysis with different primer pairs, we detected a second new chimeric CBFB-MYH11 transcript in 10 of 11 patients tested. \"'), ('3136', 'FUS_ERG', 't(16;21) / p11.2;q22 / ', 'FUS', 'ERG', '25830133', '116', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'A case of pediatric ALL with t(16;21)(p11.2;q22) and FUS-ERG rearrangement.. '), ('3137', 'RARA_PL', 't(15;17) / ', 'RARA', 'PL', '10203104', '116', 'acute promyelocytic leukemia;non Hodgkin lymphoma;leukemia;lymphoma\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'cytogenetics showed t(15;17), and molecular analysis detected promyelocytic leukemia-retinoic acid receptor alpha rearrangement. '), ('3138', 'IGH_BCL2', 't(14;18)(q32;q21) / ', 'IGH', 'BCL2', '11821444', '116', 'follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' Unlike nodal follicular lymphoma (NFL), Primary cutaneous follicular lymphomas (PCFLs) rarely express Bcl-2 protein or t(14;18)(q32;q21) (Bcl-2/IgH). '), ('3139', 'MYH11_CBFB', 't(8;21)(q22;q22) / inv(16)(p13q22) / t(16;16)(p13;q22) / ', 'MYH11', 'CBFB', '25635758', '116', '', '', '', '', '', '', '', '', '', ' In acute myeloid leukaemia (AML), the presence of t(8;21)(q22;q22) and inv(16)(p13q22)/t(16;16)(p13;q22) and/or the corresponding molecular rearrangements RUNX1/RUNX1T1 and CBFB/MYH11 [collectively referred to as core binding factor (CBF) AML] predict for a more favourable outcome in patients receiving cytarabine-anthracycline based induction and upon achievement of complete remission, high-dose cytarabine consolidation chemotherapy. '), ('3140', 'RERG_RAS', '12p12.3 / ', 'RERG', 'RAS', '24127187', '116', 'colorectal cancer\r\r', 'PCR', '', '', '', '', '', '', '', 'RERGL gene (RERG/RAS-like), the only gene influenced by the 12p12.3 structural variation, sharing most of the conserved regions with its close family member RERG tumor suppressor gene (RAS-like, estrogen-regulated, growth inhibitor), might be a novel CRC-related gene. '), ('3141', 'P16_P15', 't(1;19) / t(9;22) / t(1;19)  / ', 'P16', 'P15', '8683987', '116', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'In contrast, only one (20%) of the five cell lines with t(1;19) showed homozygous deletion or rearrangement of p16/p15 gene. '), ('3142', 'ETO_AML1', 't(8;21)  / inv(16) / t(16;16) / ', 'ETO', 'AML1', '21537931', '116', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'The chromosomal aberrations create AML1-ETO and CBF?-MYH11 fusion genes that disrupt the functions of CBF, an essential transcription factor in hematopoiesis. '), ('3143', 'BCL2_IGH', 't(14;18)  / t(14;18) / ', 'BCL2', 'IGH', '9223330', '116', 'follicular lymphoma;B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' In most human follicular B cell lymphomas the bcl-2 gene is up-regulated as a result of the t(14;18) chromosomal translocation generating a hybrid bcl-2-IgH mRNA.     ///    \"Recently, we have identified in t(14;18)-positive cells a bcl-2-IgH mRNA in the antisense orientation, putatively responsible for the overexpression of bcl-2. \"    ///    A variety of sense-oriented oligonucleotides have been designed that target the antisense transcript in regions endowed with a sequence specificity presumably restricted to an individual cell line (the bcl-2-IgH fusion regions) or extended to all t(14;18) cells (the ectopic bcl-2 segment upstream from the major breakpoint region and the IgH segment).     ///    The antisense bcl-2-IgH transcript is an optimal target for synthetic oligonucleotides..     ///    The selectivity and efficacy of all sense ODNs tested provide support for the development of therapeutic ODNs targeting the bcl-2-IgH antisense transcript expressed in human follicular lymphomas..     ///    \"Antisense-oriented ODNs, complementary to the bcl-2-IgH mRNA, and control ODNs (scrambled, inverted, or mismatched) were biologically ineffective. \"'), ('3144', 'PDGFRA_KDR', '', 'PDGFRA', 'KDR', '23074200', '116', '', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'presence of KDR-PDGFRA fusion gene. '), ('3145', 'RUNX1_ETV6', 't(12;21)(p13;q22) / ', 'RUNX1', 'ETV6', '22156147', '116', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Coexistence of t(12;21)(p13;q22)/ETV6-RUNX1 and 11q23/MLL Rearrangement in B Acute Lymphoblastic Leukemia: A Case Report and Review of the Literature.. '), ('3146', 'CLDN18_ARHGAP26', '', 'CLDN18', 'ARHGAP26', '26146084', '116', 'gastric cancer', '', '', '', 'Tumor_suppressor', '', '', '', '', 'Recurrent Fusion Genes in Gastric Cancer: CLDN18-ARHGAP26 Induces Loss of Epithelial Integrity..     ///    \"Thus, CLDN18-ARHGAP26 mediates epithelial disintegration, possibly leading to stomach H(+) leakage, and the fusion might contribute to invasiveness once a cell is transformed. \"    ///    Epithelial cell lines expressing CLDN18-ARHGAP26 displayed a dramatic loss of epithelial phenotype and long protrusions indicative of epithelial-mesenchymal transition (EMT). '), ('3147', 'NPM1_MLF1', 't(3;5)  / t(2;13) (q13;q32) / t(3;5) / del(5) / inv(9)(p11q13) / del(20)(q11.2) / t(2;13) / ', 'NPM1', 'MLF1', '20471513', '116', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', '', 'Although t(3;5)(q25.1;q34) or the NPM1/MLF1 rearrangement has been reported mostly as a sole karyotypic abnormality in younger patients, it should also be considered in elderly patients with complex chromosomal abnormalities in acute myeloid leukemia or myelodysplastic syndrome..     ///    Detection of t(3;5) and NPM1/MLF1 rearrangement in an elderly patient with acute myeloid leukemia: clinical and laboratory study with review of the literature..     ///    \"Multiplex gene rearrangement testing, cloning, and sequencing analyses revealed an NPM1/MLF1 fusion rearrangement between exon 6 of NPM1 (ENSG00000181163) and exon 2 of MLF1 (ENSG00000178053). \"    ///     We present a novel case of acute myeloid leukemia with an NPM1/MLF1 rearrangement in a 78-year-old Korean woman. '), ('3148', 'IRF4_DUSP22', '6p25.3 / ', 'IRF4', 'DUSP22', '23648461', '116', 'lymphomatoid papulosis', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'All cases harbored chromosomal rearrangements of the DUSP22-IRF4 locus on 6p25.3. '), ('3149', 'RARA_PML', 't(15;19;17)  / ', 'RARA', 'PML', '16875944', '116', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'PML/RARA rearrangement associated with a t(15;19;17) in a case of acute myeloid leukemia with abundant myelocytes with salmon-pink cytoplasm.. '), ('3150', 'BCL2_IG', 't(14;18)  / ', 'BCL2', 'IG', '2649247', '116', 'follicular lymphoma;B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'We generated minigene constructs representing the bcl-2-Ig fusion gene found at this chromosomal breakpoint.     ///    bcl-2-Ig transgenic mice document a prospective role for the t(14;18) in B cell growth and the pathogenesis of follicular lymphoma..     ///    \"Provocatively, the bcl-2-Ig transgene confers a survival advantage to a population of mature B cells assessed in vitro. \"'), ('3151', 'SEC31A_JAK2', 't(4;9)(q21;p24) / ', 'SEC31A', 'JAK2', '21325169', '115', 'lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'We showed that the t(4;9)(q21;p24) leads to a novel SEC31A-JAK2 fusion.     ///    The finding that SEC31A-JAK2 responds to JAK inhibitors indicates that patients with cHL and JAK2 rearrangements may benefit from targeted therapies..     ///    \"Altogether, we identified SEC31A-JAK2 as a chromosomal aberration characteristic for cHL and provide evidence that JAK2 rearrangements occur in a minority of cHL cases. \"    ///    Screening of 131 cHL cases identified 1 additional case with SEC31A-JAK2 and 2 additional cases with rearrangements involving JAK2.     ///    \"JAK2 rearrangements, including the novel SEC31A-JAK2 fusion, are recurrent in classical Hodgkin lymphoma.. \"    ///    \"In vivo, SEC31A-JAK2 was found to induce a T-lymphoblastic lymphoma or myeloid phenotype in a murine bone marrow transplantation model. \"    ///    We demonstrated that SEC31A-JAK2 is oncogenic in vitro and acts as a constitutively activated tyrosine kinase that is sensitive to JAK inhibitors.     ///    \"In vivo, SEC31A-JAK2 was found to induce a T-lymphoblastic lymphoma or myeloid phenotype in a murine bone marrow transplantation model.\"'), ('3152', 'ETO_AML1', 't(8;21)(q22;q22) / t(8;21)  / ', 'ETO', 'AML1', '9054947', '115', '', '', '', '', '', '', '', '', '', 'Embryonic lethality and impairment of haematopoiesis in mice heterozygous for an AML1-ETO fusion gene..     ///    \"This indicates that AML1-ETO may have other functions besides blocking wild-type AML1, a property that may be important in leukaemogenesis.. \"    ///    Mice heterozygous for an AML1-ETO allele (AML1-ETO/+) die in midgestation from haemorrhaging in the central nervous system and exhibit a severe block in fetal liver haematopoiesis.     ///    \"This phenotype is very similar to that resulting from homozygous disruption of the AML1 (Cbfa2) or Cbfb genes, indicating that AML1-ETO blocks normal AML1 function. \"    ///    \"However, yolk sac cells from AML1-ETO/+ mice differentiated into macrophages in haematopoietic colony forming unit (CFU) assays, unlike Cbfa2-/- or Cbfb-/-cells, which form no colonies in vitro. \"'), ('3153', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '15307112', '115', 'leukemia;hypereosinophilic syndrome;systemic mastocytosis\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'A range of cytogenetic and molecular genetic abnormalities has been recognized, including both those seen in other myeloid malignancies (such as trisomy 8, monosomy 7, and 20q-) and those that are particularly linked to eosinophil differentiation (such as rearrangements of PDGFRB, FGFR1, and PDGFRA, the latter with formation of a FIP1L1-PDGFRA fusion gene).     ///    The discovery of the FIP1L1-PDGFRA fusion gene has led to the recognition that many patients who would previously have been regarded as having idiopathic hypereosinophilia actually have chronic eosinophilic leukemia. '), ('3154', 'MAML2_CRTC1', 't(11;19)(q14-21;p12-13) / ', 'MAML2', 'CRTC1', '23975434', '115', 'mucoepidermoid carcinoma\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'By performing gene expression analyses and functional studies via RNA interference and pharmacological modulation, we determined the importance of the CRTC1-MAML2 fusion gene and its downstream AREG-EGFR signaling in human MEC cancer cell growth and survival in vitro and in vivo using human MEC xenograft models.     ///    \"The CRTC1-MAML2 fusion oncogene, encoded by a recurring chromosomal translocation t(11;19)(q14-21;p12-13), is a frequent genetic alteration found in >50% of mucoepidermoid carcinomas (MEC), the most common malignant SGT. \"    ///    \"The CRTC1-MAML2 oncoprotein induced the upregulation of the epidermal growth factor receptor (EGFR) ligand Amphiregulin (AREG) by co-activating the transcription factor CREB, and AREG subsequently activated EGFR signaling in an autocrine manner that promoted MEC cell growth and survival.\"    ///    \"The CRTC1-MAML2 oncoprotein induced the upregulation of the epidermal growth factor receptor (EGFR) ligand Amphiregulin (AREG) by co-activating the transcription factor CREB, and AREG subsequently activated EGFR signaling in an autocrine manner that promoted MEC cell growth and survival. \"    ///    \"In this study, we aimed to define the role of the CRTC1-MAML2 oncogene in the maintenance of MEC tumor growth and to investigate critical downstream target genes and pathways for therapeutic targeting of MEC. \"    ///    We found that CRTC1-MAML2 fusion oncogene was required for the growth and survival of fusion-positive human MEC cancer cells in vitro and in vivo.     ///    Aberrantly activated AREG-EGFR signaling is required for the growth and survival of CRTC1-MAML2 fusion-positive mucoepidermoid carcinoma cells.. '), ('3155', 'SET_CAN', '', 'SET', 'CAN', '15239126', '115', 'leukemia\r\r', '', '', '', '', '', '', '', '', ' The SET-CAN fusion gene is the product of a chromosomal rearrangement found on 9q34 associated with an acute undifferentiated leukemia.     ///    SET-CAN encodes an almost complete SET protein fused to the C-terminal two-thirds of CAN.     ///    \"Immunofluorescence analyses showed that SET/TAF-Ibeta and CAN/Nup214 are found in the nucleus and the nuclear envelope, respectively, whereas the majority of SET/TAF-Ibeta-CAN/Nup214 is localized in the nucleus. \"    ///    \"SET/TAF-Ibeta-CAN/Nup214 interacted with hCRM1, one of the nuclear export factors, and caused aberrant intracellular localization of hCRM1. \"    ///    \"In cells expressing SET/TAF-Ibeta-CAN/Nup214, a protein containing a nuclear export signal accumulated in the nucleus. \"    ///    \"To obtain insight into the leukemogenic function of SET/TAF-Ibeta-CAN/Nup214, we have examined its subcellular localization. \"    ///    These results suggest that aberrantly localized molecules associated with SET/TAF-Ibeta-CAN/Nup214 may be involved in oncogenesis..     ///    \"Aberrant intracellular localization of SET-CAN fusion protein, associated with a leukemia, disorganizes nuclear export.. \"'), ('3156', 'PDGFB_COL1A1', 't(17;22)  / ', 'PDGFB', 'COL1A1', '12034531', '115', 'Bednar tumor', '', '', 'Oncogene', '', '', '', 'KB', '', 'In the sole karyotyped case of BT a supernumerary ring containing chromosomes 17 and 22 sequences, similar to DP rings, was reported, whereas in three GCF cases, t(17;22) or der(22)t(17;22) with COL1A1-PDGFB fusion involving exons 11, 40, and 47, respectively, have been described. '), ('3157', 'PAX7_FKHR', 't(2;13)(q35;q14) / t(1;13)(p36;q14) / ', 'PAX7', 'FKHR', '17613043', '115', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'PAX3-FKHR fusion genes were detected in 28 and PAX7-FKHR fusion genes in 7 tumor biopsy specimens.     ///    PAX3-FKHR positive patients with locoregional disease had significantly poorer outcome compared with the ones with PAX7-FKHR positive tumors (p = 0.04).     ///    \"Although analyzed groups were small, significant differences in survival and clinical characteristics between PAX3-FKHR and PAX7-FKHR positive tumors were stated indicating their role in carcinogenesis. \"'), ('3158', 'PAX3_FKHR', 't(2;13)(q35;q14) / t(1;13)(p36;q14) / ', 'PAX3', 'FKHR', '17613043', '115', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'PAX3-FKHR fusion genes were detected in 28 and PAX7-FKHR fusion genes in 7 tumor biopsy specimens.     ///    Children with PAX3-FKHR fusion gene had often distant metastases at presentation (p = 0.03).     ///    PAX3-FKHR positive patients with locoregional disease had significantly poorer outcome compared with the ones with PAX7-FKHR positive tumors (p = 0.04).     ///    \"Although analyzed groups were small, significant differences in survival and clinical characteristics between PAX3-FKHR and PAX7-FKHR positive tumors were stated indicating their role in carcinogenesis. \"'), ('3159', 'SYT_SSX2', '', 'SYT', 'SSX2', '12687023', '115', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' The SYT-SSXI and SYT-SSX2 fusion genes, derived by reciprocal translocations t(X;18), are acquired genetic events strongly associated with the tumorigenesis of synovial sarcoma.     ///    \"In approaching the mechanisms underlying the formation of these fusion oncogenes, we have analysed the genomic sequences surrounding the SYT-SSX breakpoints in 10 tumors, two expressing SYT-SSXI and eight expressing SYT-SSX2 fusion transcripts. \"'), ('3160', 'NTRK3_ETV6', 't(12;15) / ', 'NTRK3', 'ETV6', '22332016', '115', 'breast cancer;breast carcinoma\r\r', '', 'Kinase', '', '', '', '', 'KB', 'Seq', 'It is the only epithelial tumor of the breast with a balanced translocation, t(12;15), that creates an ETV6-NTRK3 gene translocation. '), ('3161', 'NPM_ALK', 't(9;22)  / t(14;18)  / t(2;5)  / t(9;22) / t(14;18) / ', 'NPM', 'ALK', '11907785', '115', 'acute lymphoblastic leukemia;anaplastic large cell lymphoma;lymphoblastic leukemia;leukemia;follicular lymphoma\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', ' In peripheral blood of at least 50% of healthy individuals, the translocations t(9;22) BCR/ABL, t(14;18) IgH/BCL-2, t(2;5) NPM-ALK and MLL duplications, which characterize chronic myelogenous leukemia and acute lymphoblastic leukemia, follicular lymphoma, anaplastic large cell lymphoma, and acute myelogenous leukemia, respectively, are detectable by sensitive polymerase chain reaction (PCR). '), ('3162', 'MALT1_API2', '', 'MALT1', 'API2', '25748153', '115', 'MALT lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Genetic analysis showed that a biopsy specimen was positive for API2/MALT1 fusion gene, and IgH rearrangement showed monoclonal banding between colon and stomach.     ///    \"This suggested disseminated monoclonal API2/MALT1-positive MALT lymphoma of the colon, stomach, and small intestine. \"'), ('3163', 'MYC_IG', 't(8;14)  / t(8;14) / ', 'MYC', 'IG', '7691153', '115', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' We have analyzed the type of MYC/IG heavy-chain locus (IGH) rearrangement present in 15 patients affected by t(8;14)-positive primary Burkitt\'s lymphoma or acute lymphoblastic leukemia of the L3 type in an attempt to map in detail the locations of the chromosome 8 and chromosome 14 breakpoints. '), ('3164', 'EWSR1_ATF1', '', 'EWSR1', 'ATF1', '17075294', '115', 'clear cell sarcoma;melanoma;fibrous histiocytoma;sarcoma;histiocytoma\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Ultrastructural and immunohistochemical studies have shown melanocytic differentiation, whereas molecular genetic studies have shown cytogenetic rearrangements resulting in a EWSR1-ATF1 fusion gene that is characteristic but not entirely unique for clear cell sarcoma (similar fusion genes are also seen in angiomatoid fibrous histiocytoma). '), ('3165', 'TEL_PDGFRB', 't(5;12)(q33;p13) / ', 'TEL', 'PDGFRB', '17218386', '115', 'leukemia\r\r', '', 'Kinase', '', '', 'Receptor', '', '', '', 'TEL/PDGFbetaR activates multiple signal transduction pathways in cell-culture systems, and expression of the TEL-PDGFRB fusion gene induces myeloproliferative disease (MPD) in mice.     ///    Myeloproliferative disease induced by TEL-PDGFRB displays dynamic range sensitivity to Stat5 gene dosage..     ///    Fetal liver hematopoietic stem and progenitor cells harboring targeted deletion of both Stat5a and Stat5b (Stat5ab(null/null)) genes were refractory to transformation by TEL-PDGFRB in methylcellulose colony assays.     ///    \"In contrast, Src family kinases Lyn, Hck, and Fgr and the Stat family member Stat1 were dispensable for TEL-PDGFRB disease. \"'), ('3166', 'RARA_PML', 't(15;17) / t(15;17)  / ', 'RARA', 'PML', '1317574', '115', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Expression pattern of the RAR alpha-PML fusion gene in acute promyelocytic leukemia..     ///    We investigated the organization and expression pattern of the RAR alpha-PML gene in a series of APL patients representative of the molecular heterogeneity of the t(15;17) and found (i) two types of RAR alpha-PML mRNA junctions (RAR alpha exon 2/PML exon 4 or RAR alpha exon 2/PML exon 7) that maintain the RAR alpha and PML longest open reading frames aligned and are the result of chromosome 15 breaking at two different sites.     ///    \" Two chimeric genes, PML-RAR alpha and RAR alpha-PML, are formed as a consequence of the acute promyelocytic leukemia (APL)-specific reciprocal translocation of chromosomes 15 and 17 [t(15;17)]. \"    ///    and (ii) 10 different RAR alpha-PML fusion transcripts that differ for the assembly of their PML coding exons.     ///    \"A RAR alpha-PML transcript was present in most, but not all, APL patients.. \"'), ('3167', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '16344672', '115', 'hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The authors describe the clinical course of three children with HES in whom FIP1L1-PDGFRA fusion gene was studied and report the first child with this rearrangement..     ///    \"certain clinical differences with adult HES have been described, with no pediatric case with the imatinib-responsive FIP1L1-PDGFRA fusion gene reported to date. \"    ///    Idiopathic hypereosinophilic syndrome in children: report of a 7-year-old boy with FIP1L1-PDGFRA rearrangement.. '), ('3168', 'RAR_PL', 't(15;17) / ', 'RAR', 'PL', '21436584', '115', 'acute myeloid leukemia;acute lymphoblastic leukemia;chronic myeloid leukemia\r\r', '', '', '', '', '', '', '', '', 'It is characterized by the t(15;17)(q22;q11.2) chromosomal translocation that creates the promyelocytic leukemia-retinoic acid receptor ? (PML-RARA) fusion oncogene. '), ('3169', 'BCL2_IGH', 't(14;18)  / ', 'BCL2', 'IGH', '16530831', '115', 'follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' Accurate monitoring of the t(14;18) translocation is regarded as highly desirable in patients with follicular lymphoma (FL) as absence of bcl-2/IgH positive cells has been correlated with a reduced risk of recurrence and, more recently, pre-treatment t(14;18) load with response to rituximab (R.     ///    One single dose of rituximab added to a standard regimen of CHOP in primary treatment of follicular lymphoma appears to result in a high clearance rate from circulating bcl-2/IgH positive cells: Is the end of molecular monitoring near?. '), ('3170', 'TRP_ALK', 't(1;2) / ', 'TRP', 'ALK', '24736082', '115', 'non small cell lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The novel fusion gene and its protein TRP-ALK, harboring coiled-coil and kinase domains, could possess transforming potential and responses to treatment with ALK inhibitors. '), ('3171', 'TCF3_PBX1', 't(4;11)  / t(4;11)(q21;q23) / t(1;19)(q23;p13) / ', 'TCF3', 'PBX1', '26030419', '115', 'lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'The patient subsequently relapsed and cytogenetic assessment revealed an additional acquired t(1;19)(q23;p13) associated with the TCF3-PBX1 fusion. '), ('3172', 'KIAA1549_BRAF', '', 'KIAA1549', 'BRAF', '20718706', '115', 'malignant glioma', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The 7q34 rearrangements result in a novel in-frame KIAA1549:BRAF fusion gene that possesses constitutive BRAF kinase activity resembling oncogenic BRAF (V600E). '), ('3173', 'RARA_PML', 't(15;17) / ', 'RARA', 'PML', '21436584', '115', 'acute myeloid leukemia;acute lymphoblastic leukemia;chronic myeloid leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'It is characterized by the t(15;17)(q22;q11.2) chromosomal translocation that creates the promyelocytic leukemia-retinoic acid receptor ? (PML-RARA) fusion oncogene.     ///    \"To identify these, we used a mouse model of APL, whereby PML-RARA expressed in myeloid cells leads to a myeloproliferative disease that ultimately evolves into APL. \"    ///    \"Further analysis showed that JAK1 V658F cooperated in vivo with PML-RARA, causing a rapidly fatal leukemia in mice. \"'), ('3174', 'EML4_ALK', '', 'EML4', 'ALK', '25806308', '115', 'lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The discovery of the EML4-ALK fusion gene in a subgroup of patients with NSCLC and the subsequent clinical development of crizotinib has been an amazing success story in lung cancer translational-research, and its accelerated approval [only 4 years from the discovery of ALK rearrangement in NSCLC to the approval by the Food and Drug Administration (FDA)] marked the beginning of the new decade of targeted therapy. '), ('3175', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '21559214', '115', 'dermatofibrosarcoma protuberans;sarcoma\r\r', '', '', 'Oncogene', '', '', '', 'KB', '', ' The molecular pathogenesis of dermatofibrosarcoma protuberans (DFSP) involves distinctive rearrangement of chromosomes 17 and 22 leading to formation of the COL1A1-PDGFB fusion gene. '), ('3176', 'NUT_BRD4', '', 'NUT', 'BRD4', '22017582', '115', 'squamous cell carcinoma\r\r', '', 'Kinase', '', '', '', '', 'KB', '', ' NUT midline carcinoma (NMC), an aggressive form of squamous cell carcinoma, is defined by the presence of acquired chromosomal rearrangements involving NUT, usually BRD4-NUT fusion genes and, less commonly, NUT-variant fusion genes involving BRD3 or still-uncharacterized genes. '), ('3177', 'MLL_ELL', '', 'MLL', 'ELL', '26185637', '115', 'acute promyelocytic leukemia;leukemia\r\r', '', '', '', '', '', '', 'KB', 'Seq', ' We report an extremely rare case of acute myelomonocytic leukemia (M4) with an MLL-ELL fusion gene lacking the PML-RAR? rearrangement that transformed from hypergranular acute promyelocytic leukemia (APL) without showing any karyotypic evolution.     ///    MLL-ELL fusion gene in an acute myelomonocytic leukemia patient transformed from acute promyelocytic leukemia.. '), ('3178', 'ETO_AML1', 't(8;21)  / t(8;21) / t(15;17)  / inv(16) / ', 'ETO', 'AML1', '12944913', '115', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'In the present study, we report elevated c-jun mRNA expression in AML patient bone marrow cells with t(8;21), t(15;17) or inv(16), and a high correlation in mRNA expression levels of AML1-ETO and c-jun within t(8;21)-positive AML patient cells.     ///    \"The fusion protein AML1-ETO in acute myeloid leukemia with translocation t(8;21) induces c-jun protein expression via the proximal AP-1 site of the c-jun promoter in an indirect, JNK-dependent manner.. \"    ///    \"In myeloid U937 cells, c-jun mRNA and protein expression increase upon inducible expression of AML1-ETO. \"    ///    Overexpression of JNK-inhibitor JIP-1 and chemical JNK inhibitors reduce the transactivation capacity of AML1-ETO on the c-jun promoter and the proapoptotic function of AML1-ETO in U937 cells.     ///    AML1-ETO transactivates the human c-jun promoter through the proximal activator protein (AP-1) site by activating the JNK pathway.     ///    These data suggest a model in which AML1-ETO induces proto-oncogene c-jun expression via the proximal AP-1 site of the c-jun promoter in a JNK-dependent manner.. '), ('3179', 'EGFR_AREG', 't(11;19)(q14-21;p12-13) / ', 'EGFR', 'AREG', '23975434', '115', 'mucoepidermoid carcinoma\r\r', '', 'Kinase', '', '', '', '', '', '', 'By performing gene expression analyses and functional studies via RNA interference and pharmacological modulation, we determined the importance of the CRTC1-MAML2 fusion gene and its downstream AREG-EGFR signaling in human MEC cancer cell growth and survival in vitro and in vivo using human MEC xenograft models.     ///    Aberrantly activated AREG-EGFR signaling is required for the growth and survival of CRTC1-MAML2 fusion-positive mucoepidermoid carcinoma cells..     ///    \"Therefore, our study revealed that aberrantly activated AREG-EGFR signaling is required for CRTC1-MAML2-positive MEC cell growth and survival, suggesting that EGFR-targeted therapies will benefit patients with advanced, unresectable CRTC1-MAML2-positive MEC.. \"'), ('3180', 'MYBL1_MYB', 't(6;9)  / t(6;9) / t(8;9)  / ', 'MYBL1', 'MYB', '26631609', '115', 'adenoid cystic carcinoma', '', '', '', '', '', '', '', '', 'In addition, 5\'-NFIB fusions that did not involve MYB/MYBL1 genes were identified in a subset of t(6;9)-positive/fusion-negative tumors. '), ('3181', 'BCR_ABL1', '', 'BCR', 'ABL1', '21435002', '115', 'acute lymphoblastic leukemia;chronic myeloid leukemia;myeloid leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Chromosomal rearrangements involving the ABL1 gene, leading to a BCR-ABL1 fusion gene, have been mainly associated with chronic myeloid leukemia and B-cell acute lymphoblastic leukemia (ALL).     ///    \"Fusion genes that have a break in intron 1 or 2 (BCR-ABL1, ETV6-ABL1, ZMIZ1-ABL1, EML1-ABL1, and NUP214-ABL1) have transforming activity, although NUP214-ABL1 requires amplification to be efficient. \"'), ('3182', 'FUS_CHOP', 't(12;16) / ', 'FUS', 'CHOP', '22523595', '115', 'liposarcoma;sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'p11) leading to the expression of FUS-CHOP fusion gene.     ///    \"In particular, the transactivating activity of FUS-CHOP was found to be impaired by trabectedin treatment. \"'), ('3183', 'RARA_PML', 'del(17q) / ', 'RARA', 'PML', '8558940', '115', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Most patients with APL express del(17q)-derived RAR alpha-PML transcripts as well as the putative leukemogenic PML-RAR alpha associated with add(15q).     ///    Minimal residual disease detection in acute promyelocytic leukemia by reverse-transcriptase PCR: evaluation of PML-RAR alpha and RAR alpha-PML assessment in patients who ultimately relapse..     ///    The RAR alpha-PML assay changed the PCR status of two patients in morphological remission.     ///    \"Although parallel assessment of PML-RAR alpha and RAR alpha-PML can enhance minimal residual disease detection in APL, this study demonstrates that treatment strategies involving determination of PCR status post-consolidation, even using RAR alpha-PML in addition to the more conventional PML-RAR alpha assay will fail to identify all patients at risk of relapse. \"    ///    \"We have found that a nested RT-PCR for RAR alpha-PML affords greater sensitivity than that for PML-RAR alpha, particularly in patients with the commonest breakpoint pattern. \"'), ('3184', 'MAML2_CXCR4', 't(2;11)  / t(2;11) / ', 'MAML2', 'CXCR4', '24855209', '115', 'chronic lymphocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', '', '', '', 'Translocation t(2;11) in CLL cells results in CXCR4/MAML2 fusion oncogene..     ///    This fusion gene encodes for CXCR4/MAML2 protein chimera in which the N-terminal basic domain of MAML2 is replaced by the N-terminal domain of CXCR4. '), ('3185', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '26932148', '115', 'dermatofibrosarcoma protuberans;sarcoma\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', '', 'KB', '', 'Reverse transcription polymerase chain reaction (RT-PCR) of the tumor tissue revealed the presence of a COL1A1-PDGFB fusion gene.     ///    Congenital atrophic dermatofibrosarcoma protuberans detected by COL1A1-PDGFB rearrangement.. '), ('3186', 'BCR_ABL1', 't(9;22)  / ', 'BCR', 'ABL1', '8490164', '115', 'acute lymphoblastic leukemia;chronic myeloid leukemia;myeloid leukemia;lymphoblastic leukemia;leukemia\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Expression of the ABL-BCR fusion gene in Philadelphia-positive acute lymphoblastic leukemia..     ///    \" We have previously shown that the chimeric gene ABL-BCR, formed on the derivative chromosome 9q+ as a result of the t(9;22) translocation, is transcriptionally active in 65% of chronic myeloid leukemia patients. \"    ///    \"in two cases, ABL-BCR transcripts with the Ia-e2 junction type were also present. \"    ///    All seven patients with P190 had ABL-BCR transcripts containing a junction between ABL exon Ib and BCR exon 2 (Ib-e2).     ///    \"Of the two P210 ALL patients, one had a Ib-b4 ABL-BCR transcript and the other showed no detectable ABL-BCR expression. \"    ///    \"We have now used the same technique, reverse transcription/polymerase chain reaction amplification of ABL-BCR transcripts, to study nine patients with Philadelphia (Ph) chromosome-positive acute lymphoblastic leukemia (ALL). \"    ///    \"Although the BCR-ABL gene is probably fundamental in the pathogenesis of the Ph+ leukemias, differential expression of the ABL-BCR gene could contribute to the biologic heterogeneity of the disease.. \"'), ('3187', 'MLL_CBP', 't(1;22;11)(q44;q13;q23) / ', 'MLL', 'CBP', '18778367', '115', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Considering that the MLL-CBP fusion gene is also found almost exclusively in therapy-related leukemia, the association of MLL-p300 and MLL-CBP with therapy-related leukemia rather than de novo leukemia is thereby suggested.. '), ('3188', 'MORF_CREBBP', 't(10;16)(q22;p13) / ', 'MORF', 'CREBBP', '12619164', '115', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 't(10;16)(q22;p13) and MORF-CREBBP fusion is a recurrent event in acute myeloid leukemia..     ///    \"Here, we report a new case with the MORF-CREBBP fusion in an 84-year-old patient diagnosed with AML M5b, in which the t(10;16)(q22;p13) was the only cytogenetic aberration. \"'), ('3189', 'RARA_PML', 't(15;17)  / del(17q) / ', 'RARA', 'PML', '8790159', '115', '', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Parallel employment of the RAR alpha-PML assay confirmed expression of del(17q)-derived transcripts in 81% and permitted determination of the PML breakpoint (a potential independent prognostic variable) in all 93 cases. '), ('3190', 'CD20_CD19', 't(9;22)  / t(4;11) / t(4;11)  / t(8;21) / t(15;17) / ', 'CD20', 'CD19', '1913454', '115', 'acute biphenotypic leukemia', '', '', '', '', '', '', '', '', 'Furthermore, coexpression of CD19/CD20 and either myeloperoxidase or myeloid surface markers were predictive of finding the t(9;22) or t(4;11) karyotype. '), ('3191', 'BCR_ABL1', '', 'BCR', 'ABL1', '27212157', '115', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'A high level of MRD was associated with high WBC counts, increased age, BCR-ABL1 fusion gene, MLL rearrangements and adverse karyotypes. '), ('3192', 'NPM_ALK', 't(2;5)(p23;q35) / ', 'NPM', 'ALK', '23619105', '115', 'anaplastic large cell lymphoma;B cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'NPM-ALK/t(2;5)(p23;q35) is a genetic hallmark of ALK anaplastic large cell lymphoma (ALCL). ');
INSERT INTO `ChimerPub_dump` VALUES ('3193', 'SNX2_ABL1', 't(5;9)(q22;q34) / ', 'SNX2', 'ABL1', '24215620', '115', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'We have identified the fusion gene SNX2-ABL1 in a pediatric case of acute lymphoblastic leukemia (ALL), which has only once previously been reported in an adult patient.     ///    Treatment using tyrosine kinase inhibitors requires further investigation to optimize the genotype-based treatment stratification for patients with SNX2-ABL1 fusion.     ///    ALL cells carrying a SNX2-ABL1 fusion exhibited a BCR-ABL1+ ALL-like gene expression profile.     ///    Poor responses to tyrosine kinase inhibitors in a child with precursor B-cell acute lymphoblastic leukemia with SNX2-ABL1 chimeric transcript.. '), ('3194', 'LAF4_AML1', 't(2;21)(q11;q22) / t(2;11)(q11;q23) / t(4;21)(q28;q22) / ', 'LAF4', 'AML1', '17968322', '115', 'T ALL;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'The LAF4 gene is a member of the AF4/FMR2 family and was previously identified as a fusion partner of MLL in B-precursor ALL with t(2;11)(q11;q23), although AML1-LAF4 was in T-ALL.     ///    \"however, AML1-LAF4 was associated with T-ALL as well as AML1-FGA7 in t(4;21)(q28;q22). \"    ///    \"Furthermore, we successfully applied bubble PCR to clone the novel AML1-LAF4 fusion transcript. \"'), ('3195', 'BCR_ABL1', '', 'BCR', 'ABL1', '22992233', '115', 'acute myeloid leukemia;chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Since the discovery of the BCR-ABL1 fusion gene in chronic myeloid leukemia, many more fusion genes resulting from chromosomal rearrangements have been identified and characterized. '), ('3196', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '15238980', '114', 'thyroid carcinoma;thyloid cancer\r\r', 'PCR;RT-PCR', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'PAX8-PPARgamma fusion gene expression was found in 25% (six of 24) of follicular thyroid carcinomas (FTCs) and in 17% (six of 36) of follicular thyroid adenomas, but in none of the 10 normal tissues, 28 nodular hyperplasias, 38 papillary thyroid carcinomas (PTCs) and 11 poorly differentiated thyroid carcinomas (PDTCs).     ///    \"By real-time RT-PCR, we observed that tumours negative for the PAX8-PPARgamma rearrangement expressed lower levels of PPARgamma mRNA than the NT. \"    ///    Underexpression of peroxisome proliferator-activated receptor (PPAR)gamma in PAX8/PPARgamma-negative thyroid tumours.. '), ('3197', 'BCL2_IGH', '', 'BCL2', 'IGH', '8732086', '114', 'non Hodgkin lymphoma;follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The results showed that the bcl-2/IgH fusion gene was present in 57% of follicular lymphomas and that this translocation was also present in 33% of the reactive follicular hyperplasia cases.     ///     Polymerase chain reaction (PCR) and immunohistochemical staining methods were used to detect the bcl-2/IgH fusion gene [t(14:18)] and the overexpression of bcl-2 protein in 28 cases of follicular lymphomas and 18 cases of reactive follicular hyperplasia. '), ('3198', 'EML4_ALK', '', 'EML4', 'ALK', '20926401', '114', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', 'PCR;ISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'EML4-ALK fusion gene assessment using metastatic lymph node samples obtained by endobronchial ultrasound-guided transbronchial needle aspiration..     ///    \"Screening of these specimens with immunohistochemistry revealed ALK positivity in seven cases (6.4%), all of which possessed echinoderm microtubule-associated protein-like 4-ALK fusion genes as detected by fluorescent in situ hybridization and reverse transcription-PCR. \"'), ('3199', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '18519767', '114', 'prostate cancer;prostatic intraepithelial neoplasia\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'The TMPRSS2-ERG gene fusion that has recently been described in prostate cancer has also been shown to occur in a subset of HGPIN.     ///    \"In this study, we assessed a series of HGPIN lesions and paired prostate cancer for the presence of TMPRSS2-ERG gene fusion. \"    ///    \"Given the more aggressive nature of TMPRSS2-ERG prostate cancer, the findings of this study raise the possibility that gene fusion-positive HGPIN lesions are harbingers of more aggressive disease. \"'), ('3200', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '17971772', '114', 'prostate cancer\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', 'Seq', 'We tested for the presence of TMPRSS2:ERG gene fusion product, using RT-PCR and direct sequencing.     ///    The prognostic significance of the presence of the TMPRSS2:ERG gene fusion product remains controversial. '), ('3201', 'RARA_PML', 't(15;17) / t(15;17)  / ', 'RARA', 'PML', '7682097', '114', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Breakpoint clusters of the PML gene in acute promyelocytic leukemia: primary structure of the reciprocal products of the PML-RARA gene in a patient with t(15;17).. '), ('3202', 'NUT_BRD3', '', 'NUT', 'BRD3', '17934517', '114', '', '', 'Kinase', '', '', '', '', '', '', 'The BRD3-NUT fusion gene encodes a protein composed of two tandem chromatin-binding bromodomains, an extra-terminal domain, a bipartite nuclear localization sequence, and almost the entirety of NUT that is highly homologous to BRD4-NUT.     ///    \"Consistent with this idea, FRAP studies show that BRD4, BRD4-NUT and BRD3-NUT have significantly slower rates of lateral nuclear diffusion than that of NUT. \"    ///    \"In contrast, BRD3-NUT and BRD4-NUT are strictly nuclear, implying that the BRD moiety retains NUT in the nucleus via interactions with chromatin. \"    ///    \"To investigate the functional role of BRD-NUT fusion proteins in NMCs, we investigated the effects of siRNA-induced BRD3-NUT and BRD4-NUT withdrawal. \"'), ('3203', 'RARA_PML', '', 'RARA', 'PML', '7648936', '114', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', '17) and PML/RAR alpha fusion gene (PML + RAR alpha + APL). '), ('3204', 'BCL2_IGH', 't(14;18)  / ', 'BCL2', 'IGH', '8647513', '114', 'leukemia;lymphoma\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Tested for sensitivity by identifying minimal residual t(14;18) B cells expressing the bcl-2/IgH gene, this RT-PCR method was able to detect bcl-2/IgH mRNA from just one t(14;18) positive cell out of ten million t(14;18) negative cells. '), ('3205', 'EML4_ALK', '', 'EML4', 'ALK', '23341890', '114', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Clinical significance of EML4-ALK fusion gene and association with EGFR and KRAS gene mutations in 208 Chinese patients with non-small cell lung cancer..     ///     The EML4-ALK fusion gene has been recently identified in a small subset of non-small cell lung cancer (NSCLC) patients who respond positively to ALK inhibitors.     ///    \"We identified 7 patients who harbored the EML4-ALK fusion gene (3.37%, 7/208), including 4 cases with variant 3 (57.1%), 2 with variant 1, and 1 with variant 2. \"    ///    The characteristics of the EML4-ALK fusion gene in Chinese patients with NSCLC are poorly understood.     ///    \"Taken together, EML4-ALK translocations were infrequent in the entire NSCLC patient population, but were frequent in the NSCLC subgroup of female, non-smoker, adenocarcinoma patients. \"    ///    \"The incidence of EML4-ALK translocation in female, non-smoking adenocarcinoma patients was as high as 15.2% (5/33). \"    ///    \"Meta-analysis demonstrated that EML4-ALK translocation occurred in 4.84% (125/2580) of unselected patients with NSCLC, and was also predominant in non-smoking patients with adenocarcinoma. \"    ///    No EGFR/KRAS mutations were detected among the EML4-ALK positive patients.     ///    \"Here, we report on the prevalence of EML4-ALK, EGFR status and KRAS mutations in 208 Chinese patients with NSCLC. \"'), ('3206', 'DEK_CAN', '', 'DEK', 'CAN', '16638187', '114', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', '9 chromosome translocation with DEK-CAN fusion gene expression in patients with acute myeloid leukemia (AML) and its clinical significance.     ///    \"The DEK-CAN fusion gene was found during in all four de novo, relapsed and CR patients (100%). \"    ///    It is concluded that DEK-CAN fusion gene is the molecular basis in pathogenesis of AML.     ///    \"And the expression of DEK-CAN fusion gene enhanced apparently in de novo and relapsed patients, and weakened in CR patient. \"    ///    \"the expression of fusion gene DEK-CAN was analyzed by RT-nested-PCR in mononuclear cells of bone marrow or peripheral blood of 4 AML patients, for 3 patients received allo-BMT out of 4 patients the dynamic follow-up was performed. \"    ///    [Analysis of DEK-CAN fusion gene expression in acute myeloid leukemia patients with 6.     ///    \"The detection of DEK-CAN fusion gene is significant for diagnosis of AML, evaluation of curative effect, and predication of prognosis.. \"    ///    DEK-CAN mRNA was found in the three patients during 1-24 months after allo-BMT. '), ('3207', 'PDGFB_COL1A1', 't(17;22)  / ', 'PDGFB', 'COL1A1', '14633450', '114', 'sarcoma\r\r', 'PCR', '', 'Oncogene', '', '', '', 'KB', '', 'Formalin fixed, paraffin-embedded tumor specimens from 12 patients with DFSP were reviewed by light microscope and the expression of COL1A1/PDGFB mRNA resulting from the reciprocal translocation t(17;22) (q22;q13.1) was detected by one-step revers transcriptase-polymerase chain reaction.     ///    The COL1A1/PDGFB fusion transcripts were detected in 8 (67%) of 12 samples from patients with DFSP.     ///    [Detection of COL1A1/PDGFB fusion transcripts in dermatofibroscoma protuberans by revers transcriptase-polymerase chain reaction using paraffin-embedded tissues]..     ///    No COL1A1/PDGFB fusion transcripts were detected in the control tumors.     ///    Detection of specific COL1A1/PDGFB fusion transcripts in DFSP will help to diagnose the nature of DFSP and research the mechanism of its molecular histogenesis..     ///     To detect the COL1A1/PDGFB fusion transcripts and discuss its clinicopathological significance in dermatofibroscoma protuberans. '), ('3208', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '19204029', '114', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'The isolated exosomes also contained RNA, including the gene fusion TMPRSS2-ERG product. '), ('3209', 'Immunoglobulin _BCL2', 't(14;18)  / t(14;18) / ', 'Immunoglobulin ', 'BCL2', '8278571', '114', 'follicular lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Prospective studies using mice transgenic for a human bcl-2-immunoglobulin minigene, intended to recreate the molecular features of the t(14;18), demonstrated that bcl-2 gene deregulation was oncogenic. '), ('3210', 'ZNF198_FGFR1', 't(8;13)(p11;q12) / ', 'ZNF198', 'FGFR1', '23594707', '114', 'lymphoblastic leukemia;leukemia;lymphoma\r\r', '', 'Kinase', '', '', '', '', 'KB', '', 'Karyotyping revealed cytogenetic abnormalities, including t(8;13)(p11;q12)/ZMYM2 (ZNF198)-FGFR1 and trisomy 21.     ///    B-lymphoblastic leukemia/lymphoma associated with t(8;13)(p11;q12)/ ZMYM2 (ZNF198)-FGFR1 : rare case and review of the literature.. '), ('3211', 'SYT_SSX', 'p11.2;q11.2 / ', 'SYT', 'SSX', '10399965', '114', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'HS-SY-3 cells were shown to harbor the pathognomonic t(X;18)(p11.2;q11.2) translocation by chromosome analysis but not to exhibit the classical hybrid SYT/SSX transcripts induced by this translocation, using RT-PCR.     ///    \" Recent cytogenetical and molecular studies have indicated that synovial sarcoma harbors a t(X;18)(p11.2;q11.2) translocation, resulting in the formation of a hybrid SYT/SSX (SSX1 or SSX2) gene. \"    ///    The HS-SY-3 cells should be useful for future functional studies of the SYT/SSX chimeric gene.. '), ('3212', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '18231617', '114', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Common genetic alterations in prostate cancer patients have been identified, including CpG hypermethylation of GSPT1 and TMPRSS2:ERG gene fusion. '), ('3213', 'MLL_ALL1', 't(11;14)(q23;q32) / t(4;11)(q21;q23) / t(11;19)(q23;p13) / t(11;22)(q24;q12) / ', 'MLL', 'ALL1', '7509624', '114', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' We have previously demonstrated that the RCK gene involved in t(11;14)(q23;q32) and the more centromeric MLL/ALL1 gene involved in t(4;11)(q21;q23) and t(11;19)(q23;p13) are localized on different adjacent NotI fragments by using pulsed-field gel electrophoresis (PFGE) analysis with the yeast artificial chromosome (YAC) clone yB22B2. '), ('3214', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23918607', '114', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', ' Preclinical data suggest that TMPRSS2-ERG gene fusions, present in about 50% of prostate cancers, may be a surrogate for DNA repair status and therefore a biomarker for DNA-damaging agents.     ///    TMPRSS2-ERG status is not prognostic following prostate cancer radiotherapy: implications for fusion status and DSB repair..     ///    \"To test this hypothesis, we examined whether TMPRSS2-ERG status was associated with biochemical failure after clinical induction of DNA damage following image-guided radiotherapy (IGRT). \"    ///    The potential role of TMPRSS2-ERG status as a prognostic factor for biochemical relapse-free rate (bRFR.     ///    TMPRSS2-ERG is therefore unlikely to be a predictive factor for IGRT response..     ///    \"In two similarly treated IGRT cohorts, TMPRSS2-ERG status was not prognostic for bRFR, in disagreement with the hypothesis that these prostate cancers have DNA repair defects that render them clinically more radiosensitive. \"    ///    \"In both cohorts, TMPRSS2-ERG status was not associated with bRFR on univariate or multivariate analysis. \"'), ('3215', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '25897494', '114', 'prostate cancer;adenocarcinoma\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Despite conflicting published results, TMPRSS2-ERG gene fusion and PTEN loss are generally considered unfavorable markers for PC progression. '), ('3216', 'REL_BCL3', '16p13.1 / ', 'REL', 'BCL3', '17079453', '114', 'B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The IG partners could be identified in eight cHLs and involved chromosomal bands 2p16 (REL), 3q27 (BCL6, two cases), 8q24.1 (MYC), 14q24.3, 16p13.1, 17q12, and 19q13.2 (BCL3/RELB). '), ('3217', 'BCR_ABL1', 't(5;9)(q13;q34) / t(9;22)(q34;q11) / ', 'BCR', 'ABL1', '18525159', '114', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'A Case of ABL-BCR Negative, Philadelphia Positive CML with t(5;9)(q13;q34)..     ///    Here we report a rare case of a Philadelphia positive CML patient carrying t(5;9)(q13;q34) and deletion of ABL/BCR on der(9) as a separate event.. '), ('3218', 'RUNX1_ETV6', 't(12;21) / ', 'RUNX1', 'ETV6', '25355294', '114', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'To extend the spectrum of known somatic variants in ALL, we performed whole genome and transcriptome sequencing of three B-cell precursor patients, of which one carried the t(12;21)ETV6-RUNX1 translocation and two lacked a known primary genetic aberration, and one T-ALL patient. '), ('3219', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '22245323', '114', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'The identification of prostate cancer specific genomic aberrations, ie TMPRSS2:ERG gene fusion, might improve diagnosis and affect prostate cancer treatment.     ///    Molecular diagnosis of prostate cancer: PCA3 and TMPRSS2:ERG gene fusion..     ///    The only 2 true prostate cancer specific biomarkers identified to date remain PCA3 and TMPRSS2:ERG gene fusion.. '), ('3220', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23789042', '114', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Preliminary Results of Noninvasive Detection of TMPRSS2:ERG Gene Fusion in a Cohort of Patients With Localized Prostate Cancer..     ///    \"No correlation between TMPRSS2:ERG gene fusion status and tumor stage, Gleason grade, prostate-specific antigen level, or surgical margin status was observed.. \"'), ('3221', 'RUNX1_CLCA2', 't(1;21)(p22;q22) / t(1;21)  / ', 'RUNX1', 'CLCA2', '20875871', '114', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Reverse transcriptase-polymerase chain reaction analysis and sequencing revealed that the t(1;21) results in out-of-frame RUNX1-CLCA2 fusions.     ///    The RUNX1-CLCA2 fusion is another example of out-of-frame fusion generating truncated RUNX1 isoforms that represent a recurrent molecular mechanism in RUNX1-related leukemias.. '), ('3222', 'RELB_BCL3', '16p13.1 / ', 'RELB', 'BCL3', '17079453', '114', 'B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The IG partners could be identified in eight cHLs and involved chromosomal bands 2p16 (REL), 3q27 (BCL6, two cases), 8q24.1 (MYC), 14q24.3, 16p13.1, 17q12, and 19q13.2 (BCL3/RELB). '), ('3223', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '27041928', '114', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Moreover, it has been demonstrated recently that TMPRSS2-ERG gene fusion is identified as the predominant genetic change in patients diagnosed with PCa.     ///    PCA3 and TMPRSS2-ERG gene fusions as diagnostic biomarkers for prostate cancer..     ///    \"In this review, we focused on the potential use of PCA3 and TMPRSS2-ERG gene fusion detection in the diagnosis of PCa. \"    ///    \"Recent study revealed that combination of the PCA3 and TMPRSS2-ERG gene fusion test optimizes PCa detection compared with that of single biomarker, which would lead to a considerable reduction of the number of prostate biopsies. \"'), ('3224', 'ETO_AML1', 't(15;17) / inv(16) / t(16;16)  / t(8;21) / t(15;17)  / t(8;21)  / ', 'ETO', 'AML1', '11224485', '114', 'acute myeloid leukemia;myeloid leukemia;leukemia;hematologic malignancy\r\r', '', '', '', '', '', '', '', '', 'In a series of 145 consecutive un-selected adult patients with AML we simultaneously analyzed the presence of 4 genetic abnormalities, PML/RARalpha for t(15;17), AML1/ETO for t(8;21), CBFbeta/MYH11 for inv(16)/t(16;16) and rearrangements of the MLL gene for 11q23 abnormalities.     ///    \"The AML1/ETO fusion transcript was detected in only 2 cases (1.4%) both with M2 morphology, but 29 other cases with M2 morphology were negative. \"'), ('3225', 'PDGFRB_CCDC6', '', 'PDGFRB', 'CCDC6', '15477214', '114', 'myeloproliferative disorder\r\r', '', 'Kinase', '', '', 'Receptor', '', 'KB', '', 'We used imatinib to treat a 49-year old man with atypical CMD in accelerated phase and the H4 (D10S170)-PDGFRB fusion gene. '), ('3226', 'USP6_TRE17', 't(16;17)(q22;p13) / t(1;17) / t(3;17) / t(9;17) / t(17;17)  / ', 'USP6', 'TRE17', '15735689', '114', 'abdominal neoplasm;aneurysmal bone cyst', '', '', '', '', '', '', '', '', 'One of the ABC 17p13 rearrangements--t(16;17)(q22;p13)--was recently shown to create a CDH11-USP6 fusion in which the USP6/TRE17 oncogene is overexpressed through juxtaposition with the CDH11 promoter. '), ('3227', 'TOP1_NUP98', 't(11;20)(p15;q11) / ', 'TOP1', 'NUP98', '12874791', '113', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', 'KB', '', 'Both NUP98/TOP1 and TOP1/NUP98 transcripts are detected in a de novo AML with t(11;20)(p15;q11)..     ///    The recurrent t(11;20)(p15;q11) chromosomal translocation results in generation of the NUP98/TOP1 chimeric gene.     ///    \"This abnormality has been observed primarily in therapy-related leukemias, and TOP1/NUP98 transcripts have not been demonstrated. \"    ///    \"In addition, a reciprocal TOP1/NUP98 transcript was detected for the first time in our patient.. \"'), ('3228', 'SYT_SSX', '', 'SYT', 'SSX', '18387992', '113', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The presence of an SYT-SSX gene fusion resulting from t(X;18) was demonstrated from paraffin blocks by reverse transcriptase polymerase chain reaction in both cases. '), ('3229', 'TERT_CLPTM1L', '5p15.33 / ', 'TERT', 'CLPTM1L', '23137523', '113', 'mantle cell lymphoma;lymphoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', '', '', 'Molecular characterization of chromosomal band 5p15.33: a recurrent breakpoint region in mantle cell lymphoma involving the TERT-CLPTM1L locus.. '), ('3230', 'ETO_AML1', 'p34;q22 / t(8;21)  / p35;q22 / ', 'ETO', 'AML1', '20949334', '113', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Involvement of chromosome region 1p34 has never been reported earlier, although region 1p35 as a variant in AML with t(8;21) has been reported with an AML1/ETO fusion signal on the 1p35 rather than der(8).     ///    Fluorescence in situ hybridization analysis using dual-color fluorescence ETO and AML1 probes located at 8q22 and 21q22 respectively showed an AML1/ETO fusion signal on the derivative chromosome 8. '), ('3231', 'SYT_SSX2', '', 'SYT', 'SSX2', '24638484', '113', 'Hodgkin lymphoma;nephroblastoma', 'PCR', '', '', '', '', '', '', '', 'Reverse transcription followed by PCR of the junctional regions of the SYT-SSX1 and SYT-SSX2 fusion gene transcripts resulted in a positive band at the expected size, corresponding to positivity for the SYT-SSX transcript and confirming the diagnostic translocation.The patient had an uneventful post-operative period and follow-up after 1 year revealed no evidence of recurrence. '), ('3232', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '16502581', '113', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The use of reverse-transcription polymerase chain reaction (RT-PCR) for the detection of the PML-RARA and RARA-PML fusion genes is the only technique that defines the PML breakpoint type and that allows the definition of a correct strategy for subsequent minimal residual disease (MRD) monitoring. '), ('3233', 'BCR_ABL1', 't(9;22)(q34;q11) / t(9;22)  / ', 'BCR', 'ABL1', '9376660', '113', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The reciprocal ABL-BCR gene found in the derivative 9q+ chromosome of the t(9;22) is transcriptionally active in nearly two-thirds of CML patients but has not been shown so far to have a functional role in CML.     ///    \"Exceptional CML cases have been described with BCR breakpoints outside the three defined cluster regions, or with unusual breakpoints in ABL resulting in BCR-ABL transcripts with b2a3 or b3a3 junctions, or with aberrant fusion transcripts containing variable lengths of intronic sequence inserts. \"'), ('3234', 'MALT1_API2', 't(11;18)(q21;q21) / ', 'MALT1', 'API2', '19279678', '113', 'MALT lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Our data indicate the presence of MALT1-API2 transcripts in the majority of t(11;18)(q21;q21)-positive MALT lymphomas.     ///    Expression of MALT1-API2 transcripts in t(11;18)(q21;q21)-positive MALT lymphomas was however not associated with a reduction of BCL10 protein levels.     ///    Auto-ubiquitination-induced degradation of MALT1-API2 prevents BCL10 destabilization in t(11;18)(q21;q21)-positive MALT lymphoma..     ///     The translocation t(11;18)(q21;q21) is the most frequent chromosomal aberration associated with MALT lymphoma and results in constitutive NF-kappaB activity via the expression of an API2-MALT1 fusion protein.     ///    The properties of the reciprocal MALT1-API2 were never investigated as it was reported to be rarely transcribed.     ///    \"As we observed MALT1-API2 to be an efficient target of its own E3 ubiquitin ligase activity, our data suggest that this inherent instability of MALT1-API2 prevents its accumulation and renders a potential effect on MALT lymphoma development via destabilization of BCL10 unlikely.. \"    ///    \"Here we show that this RING domain enables MALT1-API2 to function as an E3 ubiquitin ligase for BCL10, inducing its ubiquitination and proteasomal degradation in vitro. \"    ///    \"Based on the breakpoints in the MALT1 and API2 gene, the MALT1-API2 protein contains the death domain and one or both immunoglobulin-like domains of MALT1 (approximately 90% of cases)--mediating the possible interaction with BCL10--fused to the RING domain of API2. \"'), ('3235', 'SYT_SSX', '', 'SYT', 'SSX', '24638484', '113', 'Hodgkin lymphoma;nephroblastoma', 'PCR', '', '', '', '', '', '', '', 'Reverse transcription followed by PCR of the junctional regions of the SYT-SSX1 and SYT-SSX2 fusion gene transcripts resulted in a positive band at the expected size, corresponding to positivity for the SYT-SSX transcript and confirming the diagnostic translocation.The patient had an uneventful post-operative period and follow-up after 1 year revealed no evidence of recurrence. '), ('3236', 'ETV6_AML1', 't(12;21)  / t(12;21)(p13;q22) / t(12;21) / ', 'ETV6', 'AML1', '9305598', '113', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Although deletion of ETV6 and t(12;21) were associated in most patients, in eight cases (six B lineage and two T-ALL) LOH was detected at the ETV6 locus without ETV6-AML1 hybrid RNA. '), ('3237', 'SYT_SSX1', '', 'SYT', 'SSX1', '24638484', '113', 'Hodgkin lymphoma;nephroblastoma', 'PCR', '', '', '', '', '', '', '', 'Reverse transcription followed by PCR of the junctional regions of the SYT-SSX1 and SYT-SSX2 fusion gene transcripts resulted in a positive band at the expected size, corresponding to positivity for the SYT-SSX transcript and confirming the diagnostic translocation.The patient had an uneventful post-operative period and follow-up after 1 year revealed no evidence of recurrence. '), ('3238', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '16086077', '112', 'thyroid carcinoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Our findings show that follicular thyroid carcinoma (PTC) may also harbor the PAX8-PPARgamma fusion gene and indicate that a subset of FVPTC shares some molecular features of FTA and FTC..     ///     The occurrence of the PAX8-PPARgamma fusion gene is thought to be restricted to follicular tumors (adenomas and carcinomas) of the thyroid (FTA and FTC).     ///    \"Using interphase fluorescent in situ hybridization (FISH), together with recombinant tissue-type polymerase chain reaction (RT-PCR) and immunohistochemistry, we detected the PAX8-PPARgamma translocation in 4 of 8 cases of the follicular variant of papillary thyroid carcinoma (FVPTC) exclusively or almost exclusively (>95%) composed of follicles. \"    ///    A subset of the follicular variant of papillary thyroid carcinoma harbors the PAX8-PPARgamma translocation.. '), ('3239', 'BCR_ABL1', 'inv(16) / t(9;22)  / inv(16)  / t(8;10)(p23;q25) / t(8;10) / t(10;16)(p13;q22) / inv(16)(p13q22) / t(10;16) / t(9;22)(q34;q11) / ', 'BCR', 'ABL1', '23054652', '112', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'p210 BCR/ABL1 as a secondary change in a patient with acute myelomonocytic leukemia (M4Eo) with inv(16)..     ///    \"To our knowledge, this is the first reported case of de novo AML in which has p210(BCR/ABL1) occurred as a secondary change of inv(16).. \"    ///    CBFB/MYH11 (A type) and BCR/ABL1 (b3a2) fusion transcripts were both detected by real-time quantitative RT-PCR.     ///    Fluorescence in situ hybridization detected both the CBFB and the BCR/ABL1 rearrangements. '), ('3240', 'MLLT10_MLL', 't(10;11)(p12;q23) / ', 'MLLT10', 'MLL', '20299091', '112', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', 'KB', '', 'Infantile mixed phenotype acute leukemia (bilineal and biphenotypic) with t(10;11)(p12;q23);MLL-MLLT10..     ///    \" We report a case of a 6-month-old boy with a mixed phenotype acute leukemia (MPAL), bilineal and biphenotypic immunophenotype (B-lymphoid lineage and combined B-lymphoid and monocytic lineage) with t(10;11)(p12;q23);MLL-MLLT10. \"    ///    \"To the best of our knowledge, this is the first reported MLL-MLLT10 rearranged case presenting as MPAL in an infant. \"'), ('3241', 'TCF3_PBX1', 't(9;22)  / t(4;11)  / t(1;19) / t(12;21)(p13;q22) / ', 'TCF3', 'PBX1', '19713226', '112', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'In the context of the German Multicenter Therapy Study Group for Adult Acute Lymphoblastic Leukemia (GMALL) we used reverse transcriptase polymerase chain reaction to investigate 441 cases of BCR-ABL- and MLL-AF4-negative B-precursor acute lymphoblastic leukemia for the TCF3-PBX1 (E2A-PBX1) and ETV6-RUNX1 (TEL-AML1) fusion transcripts generated by the t(1;19)(q23;p13.3) and t(12;21)(p13;q22) translocations.     ///    Clinical features and prognostic implications of TCF3-PBX1 and ETV6-RUNX1 in adult acute lymphoblastic leukemia..     ///    We identified 23 adult patients with TCF3-PBX1 and ten with ETV6-RUNX1. '), ('3242', 'SYT_SSX1', '', 'SYT', 'SSX1', '17110350', '112', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'SYT-SSX1 gene fusion transcript was detected by reverse transcription-polymerase chain reaction, which is diagnostic of primary synovial sarcoma of the lung. '), ('3243', 'ETO_AML1', 't(8;21) / ', 'ETO', 'AML1', '16025155', '112', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'The AML1-ETO fusion gene and the FLT3 length mutation collaborate in inducing acute leukemia in mice..     ///    \" The molecular characterization of leukemia has demonstrated that genetic alterations in the leukemic clone frequently fall into 2 classes, those affecting transcription factors (e.g., AML1-ETO) and mutations affecting genes involved in signal transduction (e.g., activating mutations of FLT3 and KIT). \"    ///    Here we report that AML1-ETO collaborates with FLT3-LM in inducing acute leukemia in a murine BM transplantation model.     ///    \"The model is supported by experimental data indicating that AML1-ETO and FLT3 length mutation (FLT3-LM), 2 of the most frequent genetic alterations in AML, are both insufficient on their own to cause leukemia in animal models. \"'), ('3244', 'CLTC_ALK', 't(2;5)(p23;q35) / t(2;17)(p23;q25) / t(2;11;2)(p23;p15;q31) / ', 'CLTC', 'ALK', '12112524', '112', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Our study led to the detection of the CLTC-ALK fusion in an ALCL case and to the identification of two novel fusion partners of ALK: ALO17 (KIAA1618), a gene with unknown function, which was fused to ALK in an ALCL case with a t(2;17)(p23;q25), and CARS, encoding the cysteinyl-tRNA synthetase, which was fused to ALK in an IMT case with a t(2;11;2)(p23;p15;q31).     ///    \"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. \"    ///    \"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.\"'), ('3245', 'NUP98_HOXA9', '', 'NUP98', 'HOXA9', '9858599', '112', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Here we demonstrate that the NUP98-HOXA9 fusion gene encodes two nuclear oncoproteins with either 19 or 37 NUP98 FG repeats fused to the DNA binding and PBX heterodimerization domains of the transcription factor HOXA9.     ///    CREB binding protein interacts with nucleoporin-specific FG repeats that activate transcription and mediate NUP98-HOXA9 oncogenicity..     ///    \"Together, our results suggest that NUP98-HOXA9 chimeras are aberrant transcription factors that deregulate HOX-responsive genes through the transcriptional activation properties of nucleoporin-specific FG repeats that recruit CBP/p300. \"    ///    \"Both NUP98-HOXA9 chimeras transformed NIH 3T3 fibroblasts, and this transformation required the HOXA9 domains for DNA binding and PBX interaction. \"'), ('3246', 'ETV6_JAK2', 't(8;9)(p22;p24) / t(9;12)(p24;p13) / t(9;22)(p24;q11????2) / / ', 'ETV6', 'JAK2', '24913195', '112', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Furthermore, lymphoid and myeloid neoplasms associated respectively with t(9;12)(p24;p13); ETV6-JAK2 and with t(9;22)(p24;q11????2); BCR-JAK2 should be documented carefully in order to define their features more clearly and assess whether they can be recognized as entities.    ///    ETV6-JAK2 and with t(9;22)(p24;q11??2). '), ('3247', 'MLL_AF4', 't(4;11) / ', 'MLL', 'AF4', '8152249', '112', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'However, in the MV411 cell line bearing a t(4;11), which served as a positive control in our MLL-1/AF4-PCR assay, the reciprocal AF4/MLL-1 mRNA was detected.     ///    \"Moreover, we investigated all ten patients for the reciprocal mRNA transcript AF4/MLL-1 by a similar PCR approach. \"'), ('3248', 'RUNX1T1_RUNX1', 't(8;21)(q22;q22) / inv(16)(p13.1;q22) / t(16;16) / p13.1;q22 / ', 'RUNX1T1', 'RUNX1', '22145956', '112', 'acute myeloid leukemia;myeloid leukemia;leukemia;systemic mastocytosis\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'RUNX1-RUNX1T1 or inv(16)(p13.1;q22)/t(16;16)(p13.1;q22). '), ('3249', 'PSOD_KMT2A', 't(9;11)(p22;q23) / t(9;11) / ', 'PSOD', 'KMT2A', '14647461', '112', '', '', '', 'Oncogene', '', '', '', '', '', 'Here, we investigated the MLL-AF9 function by means of an antisense phosphorothioate-oligodeoxyribonucleotide (MLL-AF9-PS-ODNas) using the THP-1 AML-M5 cell line carrying t(9;11).     ///    \"Having confirmed that MLL-AF9-PS-ODNas induces strong inhibition of THP-1 cell growth, but only a moderate increase in apoptosis, we found that MLL-AF9-PS-ODNas did not induce morpho-functional terminal differentiation or restore M-CSF-, G-CSF- or GM-CSF-induced differentiation. \"    ///    \"Moreover, THP-1 cells showed the same phenotype with/without MLL-AF9-PS-ODNas. \"'), ('3250', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '21836606', '112', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'In conclusion, PIG7 could be transactivated by AML1, which subsequently induces differentiation and apoptosis of leukemia cells, especially those with AML1-ETO fusion gene..     ///    \"PIG7, transactivated by AML1, promotes apoptosis and differentiation of leukemia cells with AML1-ETO fusion gene.. \"    ///    \" AML1, the potent transcription factor in hematopoiesis, is antagonized by AML1-ETO in t(8;21) leukemia. \"    ///    \"The results demonstrated that exogenous AML1b could upregulate PIG7 expression in HEK-293 and CV-1 cells in sequence-specific and dosage-dependent manners, and this effect was antagonized by AML1-ETO. \"'), ('3251', 'YWHAE_NUTM2B', '5p15.33 / ', 'YWHAE', 'NUTM2B', '25481751', '112', 'clear cell sarcoma;sarcoma\r\r', '', '', '', '', '', '', 'KB', '', 'Most CCSKs display few genomic aberrations, and no general underlying mechanism for tumor initiation has yet been identified, although a YWHAE-NUTM2B/NUTM2E fusion gene has been observed in a minority of cases.     ///    The presence of the YWHAE-NUTM2B/NUTM2E fusion was confirmed in two cases. '), ('3252', 'MKL1_MAL', 't(1,22)  /  / ', 'MKL1', 'MAL', '12019265', '112', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Recently, a human homologue of BSAC named MAL/MKL1 (megakaryocytic acute leukemia/megakaryoblastic leukemia-1) was identified as a fusion transcript generated by t(1,22) translocation in acute megakaryoblastic leukemia. '), ('3253', 'FGFR1OP_FGFR1', 't(6;8)(q27;p12) / ', 'FGFR1OP', 'FGFR1', '15570299', '112', 'myeloproliferative disorder\r\r', '', 'Kinase', '', '', '', '', 'KB', '', 'Clinical variability of patients with the t(6;8)(q27;p12) and FGFR1OP-FGFR1 fusion: two further cases..     ///     We report two new cases with the t(6;8)(q27;p12) and FGFR1OP-FGFR1 fusion. '), ('3254', 'MLLT3_MLL', 't(9;11)(p21-22;q23) / ', 'MLLT3', 'MLL', '20395514', '112', 'acute myeloid leukemia;myeloid leukemia;leukemia;breast cancer\r\r', '', '', 'Oncogene', '', '', '', '', 'Seq', ' We compared pathogenetic features of 32 de novo and 29 therapy-related (t) t(9;11)(p21-22;q23)/MLLT3-MLL acute myeloid leukemia (AML) cases to identify progression factors and to assess whether distinction between these manifestations is warranted.     ///    \"MLLT3-MLL rearrangement was commonly the sole karyotypic abnormality at diagnosis, with many secondary chromosomal changes emerging at relapse in both subgroups. \"    ///    Ras activation seems to complement the MLLT3-MLL oncogene in transformation with features of de novo and t-AML with MLLT3-MLL being similar.. '), ('3255', 'OTT_MAL', 't(1;22)(p13;q13) / t(9;11)(p22;q23) / t(9;11) / ', 'OTT', 'MAL', '26215111', '112', 'leukemia;down syndrome\r\r', '', '', '', '', '', '', '', '', 'and intermediate risk-others including t(1;22)(p13;q13)/OTT-MAL (RBM15-MKL1) and 11q23/MLL except t(9;11). '), ('3256', 'HLF_E2A', 't(17;19) / ', 'HLF', 'E2A', '8180393', '112', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', '', '', 'Two types of genomic rearrangements create alternative E2A-HLF fusion proteins in t(17;19)-ALL..     ///    These features underscore the requirement for DNA binding and/or dimerization conferred by the bZIP portion of the E2A-HLF chimera in t(17;19)-ALL..     ///     The t(17;19)(q21-q22;p13.3) in acute lymphoblastic leukemia results in creation of an E2A-HLF fusion protein with structural and functional properties of a chimeric transcription factor. '), ('3257', 'RANBP2_ALK', 'inv(2)(p23q13) / del(1)(p13p22) / ', 'RANBP2', 'ALK', '25766836', '112', 'acute myeloid leukemia;myeloid leukemia;leukemia;lung cancer\r\r', 'PCR;ISH', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'An elderly woman with AML with an inv(2)(p23q13)/RANBP2-ALK and monosomy 7 was treated with crizotinib.     ///     This is the first report on the development of a p.G1269A mutation within the kinase domain (KD) of ALK after crizotinib treatment in RANBP2-ALK acute myeloid leukemia (AML). '), ('3258', 'RNF213_ALK', 't(2;5)(p23;q35) / t(2;17)(p23;q25) / t(2;11;2)(p23;p15;q31) / ', 'RNF213', 'ALK', '12112524', '112', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Our study led to the detection of the CLTC-ALK fusion in an ALCL case and to the identification of two novel fusion partners of ALK: ALO17 (KIAA1618), a gene with unknown function, which was fused to ALK in an ALCL case with a t(2;17)(p23;q25), and CARS, encoding the cysteinyl-tRNA synthetase, which was fused to ALK in an IMT case with a t(2;11;2)(p23;p15;q31). '), ('3259', 'ETO_AML1', 't(8;21) / del(9)(q22) / ', 'ETO', 'AML1', '16938118', '112', '', '', '', '', '', '', '', '', '', 'Identification of additional cytogenetic and molecular genetic abnormalities in acute myeloid leukaemia with t(8;21)/AML1-ETO..     ///    We analysed 99 patients with an AML1-ETO rearrangement for additional aberrations.     ///    \"These clinical findings support the model that AML1-ETO collaborates with other genetic alterations, such as mutations of receptor tyrosine kinases, to induce AML.. \"    ///     AML1-ETO collaborates with further genetic abnormalities to induce acute myeloid leukaemia (AML). '), ('3260', 'IGF2_H19', '11p15.5 / ', 'IGF2', 'H19', '23719190', '112', 'Beckwith-Wiedemann syndrome;Silver-Russell syndrome', '', '', '', '', '', '', '', '', 'The relevant imprinted chromosomal region in BWS is 11p15.5, which consists of two imprinting domains, IGF2/H19 and CDKN1C/KCNQ1OT1. '), ('3261', 'TAL_SIL', 't(5;14)(q35;q32) / t(5;14)  / ', 'TAL', 'SIL', '14504110', '112', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Clinical significance of HOX11L2 expression linked to t(5;14)(q35;q32), of HOX11 expression, and of SIL-TAL fusion in childhood T-cell malignancies: results of EORTC studies 58881 and 58951..     ///    \"Additionally, in 138 of these patients, HOX11 expression and SIL-TAL rearrangement were also assessed. \"    ///    \"Patients with HOX11-high expression and those with SIL-TAL fusion had low levels of residual disease at the end of induction and a favorable prognosis: the 3-year EFS rate was 83.3% (+/- 8.5%) and 75.3% (+/- 12.6%), respectively. \"'), ('3262', 'KCNQ1OT1_CDKN1C', '11p15.5 / ', 'KCNQ1OT1', 'CDKN1C', '23719190', '112', 'Beckwith-Wiedemann syndrome;Silver-Russell syndrome', '', 'Kinase', '', '', '', '', '', '', 'The relevant imprinted chromosomal region in BWS is 11p15.5, which consists of two imprinting domains, IGF2/H19 and CDKN1C/KCNQ1OT1. '), ('3263', 'NUTM2E_NUTM2B', '5p15.33 / ', 'NUTM2E', 'NUTM2B', '25481751', '112', 'clear cell sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Most CCSKs display few genomic aberrations, and no general underlying mechanism for tumor initiation has yet been identified, although a YWHAE-NUTM2B/NUTM2E fusion gene has been observed in a minority of cases.     ///    The presence of the YWHAE-NUTM2B/NUTM2E fusion was confirmed in two cases. '), ('3264', 'PAX7_FKHR', 't(2;13)  / t(1;13)  / ', 'PAX7', 'FKHR', '11826361', '112', 'rhabdomyosarcoma;Beckwith Wiedemann syndrome;neuroblastoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Furthermore, cytogenetic analysis of the tumors did not detect the t(2;13) or t(1;13) translocations that generate the PAX3- or PAX7-FKHR fusion proteins common to alveolar RMS. '), ('3265', 'MLLT3_MLL', 't(1;22)(p13;q13) / t(9;11)(p22;q23) / t(9;11) / ', 'MLLT3', 'MLL', '26215111', '112', 'leukemia;down syndrome\r\r', '', '', 'Oncogene', '', '', '', '', 'Seq', 'poor risk-normal karyotypes, -7, 9p abnormalities including t(9;11)(p22;q23)/MLL-MLLT3, -13/13q-, and -15. '), ('3266', 'RBM15_MKL1', 't(1;22)(p13;q13) / t(9;11)(p22;q23) / t(9;11) / ', 'RBM15', 'MKL1', '26215111', '112', 'leukemia;down syndrome\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'and intermediate risk-others including t(1;22)(p13;q13)/OTT-MAL (RBM15-MKL1) and 11q23/MLL except t(9;11). '), ('3267', 'BCR_ABL1', 'del(22)(q11.2) / ', 'BCR', 'ABL1', '19998064', '112', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Persistence of derivative chromosome 22 after achieving a major molecular response in chronic myeloid leukemia with a cryptic BCR-ABL1 fusion gene..     ///    \"A detailed chromosome/molecular studies, including serial karyotyping analysis, finally resulted in the karyotyping at the disease onset to be 47,XX,+del(22)(q11.2), with two genetic evens, namely a cryptic BCR-ABL1 transcript on chromosome 9 and derivative chromosome 22 unrelated to BCR-ABL1. \"    ///     We herein report the findings of a 47-year-old Japanese female with chronic myeloid leukemia (CML) with a cryptic BCR-ABL1 transcript on chromosome 9 and a derivative chromosome 22 unrelated to BCR-ABL1. '), ('3268', 'MYB_NFIB', '', 'MYB', 'NFIB', '26095796', '111', 'breast cancer', 'PCR;ISH', '', '', '', '', '', 'KB', 'Seq', 'The molecular underpinning of breast AdCCs other than the MYB-NFIB fusion gene remains largely unexplored.    ///     Adenoid cystic carcinoma (AdCC) is a rare type of triple-negative breast cancer (TNBC) characterized by the presence of the MYB-NFIB fusion gene.     ///    Fluorescence in situ hybridization and reverse-transcription PCR were used to define the presence of MYB gene rearrangements and MYB-NFIB chimeric transcripts. '), ('3269', 'KIAA1549_BRAF', '', 'KIAA1549', 'BRAF', '21424530', '111', 'pilocytic astrocytoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Genetically, tandem duplications at chromosome 7q34 resulting in KIAA1549-BRAF fusion genes constitute the most common mechanism identified to date.     ///    \"Genetically, tandem duplications at chromosome 7q34 resulting in KIAA1549-BRAF fusion genes constitute the most common mechanism identified to date.\"'), ('3270', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '17651453', '111', 'thyroid carcinoma\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Three of five (60%) follicular thyroid adenomas and 1 of 7 (14%) follicular thyroid carcinomas, with the PAX8/PPARgamma fusion gene, were aneuploid.     ///    \"RAS mutations and PAX8/PPARgamma fusion gene were investigated in 101 and 87 of these samples, respectively. \"    ///    None of the tumours with RAS mutations expressed the PAX8/PPARgamma fusion gene.     ///    \"The aim of our study was to investigate the correlation between aneuploidy, RAS mutations and PAX8/PPARgamma gene rearrangement in thyroid follicular tumours. \"'), ('3271', 'TPM4_ALK', '', 'TPM4', 'ALK', '10934142', '111', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We have cloned two ALK fusion genes, TPM4-ALK and TPM3-ALK, which encode approximately 95-kd fusion oncoproteins characterized by constitutive kinase activity and tyrosylphosphorylation.     ///    TPM3-ALK and TPM4-ALK oncogenes in inflammatory myofibroblastic tumors.. '), ('3272', 'EML4_ALK', '', 'EML4', 'ALK', '24982409', '111', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The responses to first-line cytotoxic chemotherapy were retrospectively compared between advanced or postoperative recurrent patients with non-squamous NSCLC who harbor the EML4-ALK fusion gene (ALK+), EGFR mutation (EGFR+), or neither abnormality (wild-type).     ///    Non-small cell lung cancer patients with EML4-ALK fusion gene are insensitive to cytotoxic chemotherapy..     ///    NSCLC patients with the EML4-ALK fusion gene might be relatively insensitivite to cytotoxic chemotherapy..     ///    \"The responses to first-line cytotoxic chemotherapy were retrospectively compared between advanced or postoperative recurrent patients with non-squamous NSCLC who harbor the EML4-ALK fusion gene (ALK+), EGFR mutation (EGFR+), or neither abnormality (wild-type).\"    ///    \" Although patients with the echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase gene (EML4-ALK) re-arrangement and epidermal growth factor gene EGFR mutations have proven sensitive to specific inhibitors, there is currently no consensus regarding the sensitivity of non-small cell lung cancer (NSCLC) patients with such mutations to cytotoxic chemotherapy. \"    ///    \"Although patients with the echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase gene (EML4-ALK) re-arrangement and epidermal growth factor gene EGFR mutations have proven sensitive to specific inhibitors, there is currently no consensus regarding the sensitivity of non-small cell lung cancer (NSCLC) patients with such mutations to cytotoxic chemotherapy.\"'), ('3273', 'TFG_ALK', 't(2;5)(p23;q35) / t(2;3)(p23;q21) / t(2;5)  / ', 'TFG', 'ALK', '10556217', '111', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In these cases, TFG was involved in 2 different fusion genes, TFG-ALK(S) and TFG-ALK(L), coding respectively 85-kD and 97-kD chimeric proteins.     ///    TRK-fused gene (TFG) is a new partner of ALK in anaplastic large cell lymphoma producing two structurally different TFG-ALK translocations.. '), ('3274', 'TPM3_ALK', '', 'TPM3', 'ALK', '10934142', '111', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We have cloned two ALK fusion genes, TPM4-ALK and TPM3-ALK, which encode approximately 95-kd fusion oncoproteins characterized by constitutive kinase activity and tyrosylphosphorylation.     ///    \"We have cloned two ALK fusion genes, TPM4-ALK and TPM3-ALK, which encode approximately 95-kd fusion oncoproteins characterized by constitutive kinase activity and tyrosylphosphorylation.\"    ///    \"Notably, a TPM3-ALK oncogene was reported recently in anaplastic lymphoma, and TPM3-ALK is thereby the first known fusion oncogene that transforms, in vivo, both mesenchymal and lymphoid human cell lineages.. \"    ///    TPM3-ALK and TPM4-ALK oncogenes in inflammatory myofibroblastic tumors.. '), ('3275', 'ZNF198_FGFR1', '', 'ZNF198', 'FGFR1', '17027752', '111', '', '', 'Kinase', '', '', '', '', 'KB', '', ' The ZNF198/FGFR1 fusion gene in atypical myeloproliferative disease produces a constitutively active cytoplasmic tyrosine kinase, unlike ZNF198 which is normally a nuclear protein.     ///    Overall our results suggest that the sumoylation of ZNF198 is important for PML body formation and that the abrogation of sumoylation of ZNF198 in ZNF198/FGFR1 expressing cells may be an important mechanism in cellular transformation..     ///    \"In cells expressing ZNF198/FGFR1, which also lack the SUMO-1 binding site, SUMO-1 is preferentially localized in the cytoplasm, which is associated with loss of distinct PML bodies. \"    ///    \"Treatment of cells expressing ZNF198/FGFR1 with ATO demonstrated reduced autophosphorylation of the ZNF198/FGFR1 protein and induced apoptosis, which is not seen in cells expressing wild-type ZNF198. \"    ///    We have now shown that the ZNF198/FGFR1 fusion kinase interacts with the endogenous ZNF198 protein suggesting that the function of ZNF198 may be compromised in cells expressing it. '), ('3276', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '18843283', '111', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The year 2008 marks the fifth anniversary since the publication which identified the FIP1L1-PDGFRA fusion gene in patients with idiopathic hypereosinophilia.     ///    Five years since the discovery of FIP1L1-PDGFRA: what we have learned about the fusion and other molecularly defined eosinophilias.. '), ('3277', 'EML4_ALK', '', 'EML4', 'ALK', '25704901', '111', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'These alterations have been defined as \"driver mutations\", such as mutations in EGFR and EML4-ALK fusion gene, and are highly sensitive to specific therapies.     ///    \"Personalized medicine is now a reality for patients with advanced NSCLC on the basis of routine screening for EGFR, HER2, KRAS, BRAF, PI3KCA mutations and EML4-ALK rearrangement.\"    ///    \"Personalized medicine is now a reality for patients with advanced NSCLC on the basis of routine screening for EGFR, HER2, KRAS, BRAF, PI3KCA mutations and EML4-ALK rearrangement. \"'), ('3278', 'TEL_AML1', '', 'TEL', 'AML1', '15356660', '111', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' Several studies involving identical twins with concordant leukemia and retrospective scrutiny of archived neonatal blood spots have shown that the TEL-AML1 fusion gene in childhood acute lymphoblastic leukemia (ALL) frequently arises before birth.     ///    \"Interestingly, both the identical TEL-AML1 fusion sequence and distinct immunoglobulin gene rearrangements were identified on the neonatal blood spots indicating that separate preleukemic clones evolved already before birth. \"'), ('3279', 'MLLT10_MLL', '', 'MLLT10', 'MLL', '16111539', '111', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', 'KB', '', 'MLL-MLLT10 fusion gene in pediatric acute megakaryoblastic leukemia..     ///    \" The occurrence of MLL gene rearrangement in acute megakaryoblastic leukemia (AML-M7, acute myeloid leukemia, French-American-British type M7) is very rare and limited to pediatric age: in particular, MLL-MLLT10 fusion, previously reported as characteristic of monocytic leukemia, has been reported in only one case of pediatric megakaryoblastic leukemia. \"'), ('3280', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '17938925', '111', 'chronic idiopathic myelofibrosis', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'After 2001, the detection of the high frequency of the JAK2V617F mutation in PV, CIMF, and ET, and of the FIP1L1-PDGFRA fusion gene in CEL further added important information in the diagnosis of CMPD. '), ('3281', 'ETO_AML1', '', 'ETO', 'AML1', '12760263', '111', 'leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' The t (8;21) (q22;q22), which produces the fusion gene AML1/ETO, is associated with relatively good prognosis and, in particular, with a good response to cytosine arabinoside.     ///    RNAs were extracted from leukemic cells and reverse transcriptase mediated polymerase chain reaction (RT-PCR) for AML1/ETO fusion transcript was done.     ///    The incidence of AML1/ETO fusion transcripts was 22.0% in AML and 44.8% in AML-M2.     ///    \"AML-M2 patients with AML1/ETO rearrangement had also a tendency of longer overall survival and progression free survival, although there was no significant difference between both groups. \"    ///    \"Our data suggest that AML1/ETO rearrangement is detected frequently in AML, especially M2, and is a favorable prognostic factor. \"    ///    \"We performed this study to investigate the incidence of AML1/ETO rearrangement in adult acute myelogenous leukemia (AML), especially in M2 subtype, to make a comparison of clinical, morphological and immunophenotypic characteristics between AML1/ETO rearrangement positive and negative group in patients with AML and to analyze the correlation with other biological parameters. \"    ///    \"AML patients with AML1/ETO had a tendency of higher complete remission rate (81.8% vs 56.6%, p = 0.13). \"    ///    \"The morphologic finding of bone marrow in AML-M2 showed higher incidence of Auer rods, large blast with prominent golgi and abnormal granules in AML1/ETO positive patients. \"    ///    \"50.9 weeks vs 20.4 weeks, p = 0.02) of AML1/ETO positive group were longer than those of the negative group in AML. \"'), ('3282', 'TEL_AML1', '', 'TEL', 'AML1', '15863202', '111', '', '', '', '', '', '', '', '', '', ' TEL/AML1 fusion gene is present in 20-25% of childhood acute lymphoblastic leukaemias.     ///    \"In order to unravel at which stage of B-cell precursor development the fusion is originated, we analysed frequency and pattern of immunoreceptor (immunoglobulin and T-cell receptor) gene rearrangements in 47 TEL/AML1-positive and 43 TEL/AML1-negative cases of the same CD10+ immunophenotype. \"    ///    More mature immunogenotype of TEL/AML1-positive cases and changes in 37% of rearrangements between diagnosis and relapse suggest that in most cases the TEL/AML1 fusion is formed during immunoreceptor gene rearrangement process..     ///    \"Moreover, we compared corresponding immunoreceptor gene rearrangements in 11 cases of TEL/AML1-positive leukaemia at diagnosis and relapse. \"    ///    TEL/AML1 and immunoreceptor gene rearrangements-which comes first?. '), ('3283', 'MALT1_API2', '', 'MALT1', 'API2', '14674990', '111', 'MALT lymphoma;T cell lymphoma;B cell lymphoma;lymphoma;lymphoproliferative disorder\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'These findings indicate that the nuclear expression of BCL10 is unlikely to correlate with the API2-MALT1 fusion gene in ocular adnexal MALT lymphoma..     ///    \"To clarify the correlation between BCL10 protein expression and API2-MALT1 gene rearrangement, the 51 cases of MALT lymphoma and 5 cases of DLBCL were analyzed by immunohistochemical and RT-PCR methods. \"    ///    No evidence of a correlation between BCL10 expression and API2-MALT1 gene rearrangement in ocular adnexal MALT lymphoma..     ///    API2-MALT1 transcription was not demonstrated in either the MALT lymphoma cases or the DLBCL cases studied using a multiplex one-tube reverse transcriptase-PCR method. '), ('3284', 'TEL_AML1', '', 'TEL', 'AML1', '17581672', '111', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'In addition, the TEL/AML1 fusion gene is most frequently found in children older than 24 months.     ///    \"A molecular study on a Brazilian cohort (age range 0-23 months) has detected TEL/AML1+ve (N = 9), E2A/PBX1+ve (N = 4), PML/RARA+ve (N = 4), and AML1/ETO+ve (N = 2) cases. \"'), ('3285', 'TEL_RUNX1', 't(12;21)(p12;q22) / ', 'TEL', 'RUNX1', '15179033', '111', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' Human chromosomal translocation t(12;21)(p12;q22) is one of the most frequent rearrangement in human leukemia, and produces the TEL/RUNX1 fusion protein.     ///    It appears that loss of TEL function activates a pathway that cooperates with TEL/RUNX1 and sequesters coactivator(s) into nonfunctional complex in the cytoplasm thus inhibiting transcription of target genes..     ///    Immunoprecipitation and immunofluorescence analysis showed that p300 interacts with TEL/RUNX1 and is sequestered in the cytoplasm by it.     ///    These results suggest that the p300-TEL/RUNX1 complex and heterodimerization of TEL/RUNX1 with TEL may be responsible for the ability of TEL/RUNX1 to inhibit RUNX1-mediated transactivation.     ///    \"Here, we demonstrate that the repressor activity of TEL/ RUNX1 differs from that of TEL, even though both TEL and TEL/RUNX1 interact with the nuclear hormone co-repressor (N-CoR) and histone deacetylase (mSin3A) in vivo. \"    ///    \"Co-immunoprecipitation experiments demonstrated that TEL/RUNX1 forms homodimers in vivo, and heterodimerizes with the TEL when the two proteins are expressed together. \"    ///    The TEL/RUNX1 fusion protein creates a transcriptional repressor that interferes in dominant fashion with RUNX1-dependent transactivation.     ///    Mechanism of transcriptional repression by TEL/RUNX1 fusion protein.. '), ('3286', 'NUT_BRD4', '', 'NUT', 'BRD4', '24326851', '111', '', '', 'Kinase', '', '', '', '', 'KB', '', 'Here we describe a classic NMC with a BRD4-NUT fusion gene in a middle-aged woman. '), ('3287', 'RELA_C11orf95', '', 'RELA', 'C11orf95', '25182241', '111', 'ependymoma\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Although no recurrently mutated genes were found throughout these groups of ependymomas, PFA exhibited a CpG island methylator phenotype, PFB was associated with extensive chromosomal aberrations, and the C11orf95-RELA fusion gene was frequently observed in supratentorial ependymomas. '), ('3288', 'BCR_ABL1', 't(1;19) / t(12;21) / t(8;21) / t(8;14) / t(9;22) / t(10;11) / t(15;17) / inv(16) / ', 'BCR', 'ABL1', '15843827', '111', 'hematologic malignancy', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Using cDNA microarrays, we determined the gene expression profiles of 40 cell lines as well as of primary leukemias harboring 11q23/MLL rearrangements, t(1;19)[TCF3/PBX1], t(12;21)[ETV6/RUNX1], t(8;21)[RUNX1/CBFA2T1], t(8;14)[IGH@/MYC], t(8;14)[TRA@/MYC], t(9;22)[BCR/ABL1], t(10;11)[PICALM/MLLT10], t(15;17)[PML/RARA], or inv(16)[CBFB/MYH11]. '), ('3289', 'WWTR1_CAMTA1', '', 'WWTR1', 'CAMTA1', '26763770', '111', 'fibrous histiocytoma;sarcoma;histiocytoma\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'the WWTR1-CAMTA1 fusion gene with CAMTA1 protein expression in epithelioid haemangioendothelioma. '), ('3290', 'MYH11_CBFB', '', 'MYH11', 'CBFB', '20808941', '111', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'In contrast, fusion genes such as AML1/ETO or CBFB/MYH11 failed to reproduce the epigenetic signature observed in the patients. '), ('3291', 'TAL1_SIL', '', 'TAL1', 'SIL', '25543465', '111', 'T ALL\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', '[Correlation between expression of SIL-TAL1 fusion gene and deletion of 6q in T-cell acute lymphoblastic leukemia]..     ///    \"Array-CGH results of 2 T-ALL cases with SIL-TAL1 rearrangement revealed that this fusion gene was resulted from a cryptic deletion of 1p32, and the overlap region of 6q deletion was 6q14.1-16.3. \"    ///    \"The results showed that SIL-TAL1 rearrangements were identified in 10/26 (38.5%) pediatric and 2/42 (4.8%) adult T-ALL cases, which indicate a pediatric preference for SIL-TAL1 rearrangements in T-ALL. \"    ///    The incidence of SIL-TAL1 rearrangements was analyzed by nest real-time quantitative polymerase chain reaction (RT-PCR) in 68 patients with T-ALL.     ///     The present study was designed to investigate the prevalence and clinical significance of SIL-TAL1 rearrangements in T-cell acute lymphoblastic leukemia (T-ALL).     ///    \"In contrast to the cases without SIL-TAL1 fusion, there are many adverse prognostic factors in the cases with SIL-TAL1 fusion, such as higher WBC count and higher LDH levels. \"    ///    These cases with SIL-TAL1 fusion had a higher white blood cell (WBC) count and higher serum levels of lactate dehydrogenase (LDH) than cases without SIL-TAL1 fusion. '), ('3292', 'RARA_PML', 't(1;19) / t(12;21) / t(8;21) / t(8;14) / t(9;22) / t(10;11) / t(15;17) / inv(16) / ', 'RARA', 'PML', '15843827', '111', 'hematologic malignancy', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Using cDNA microarrays, we determined the gene expression profiles of 40 cell lines as well as of primary leukemias harboring 11q23/MLL rearrangements, t(1;19)[TCF3/PBX1], t(12;21)[ETV6/RUNX1], t(8;21)[RUNX1/CBFA2T1], t(8;14)[IGH@/MYC], t(8;14)[TRA@/MYC], t(9;22)[BCR/ABL1], t(10;11)[PICALM/MLLT10], t(15;17)[PML/RARA], or inv(16)[CBFB/MYH11]. '), ('3293', 'POU5F1_FUS', '', 'POU5F1', 'FUS', '25066216', '111', 'myoepithelioma\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Myoepithelioma of bone with a novel FUS-POU5F1 fusion gene..     ///    We report a novel FUS-POU5F1 fusion gene in an intraosseous myoepithelioma of the sacrum. '), ('3294', 'MYH11_CBFB', 't(8;21)(q22;q22) / inv(16)(p13q22) / t(16;16)(p13;q22) / t(8;21)  / inv(16) / inv(16)  / ', 'MYH11', 'CBFB', '22032582', '111', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The rearrangements t(8;21) and inv(16) involve the  RUNX1/RUNX1T1  ( AML1-ETO ) and  CBFB/MYH11  genes, respectively. '), ('3295', 'PICALM_MLL', 't(1;19) / t(12;21) / t(8;21) / t(8;14) / t(9;22) / t(10;11) / t(15;17) / inv(16) / ', 'PICALM', 'MLL', '15843827', '111', 'hematologic malignancy', '', '', '', '', '', '', '', '', 'Using cDNA microarrays, we determined the gene expression profiles of 40 cell lines as well as of primary leukemias harboring 11q23/MLL rearrangements, t(1;19)[TCF3/PBX1], t(12;21)[ETV6/RUNX1], t(8;21)[RUNX1/CBFA2T1], t(8;14)[IGH@/MYC], t(8;14)[TRA@/MYC], t(9;22)[BCR/ABL1], t(10;11)[PICALM/MLLT10], t(15;17)[PML/RARA], or inv(16)[CBFB/MYH11]. '), ('3296', 'RUNX1T1_RUNX1', 't(8;21)  / t(8;21) / ', 'RUNX1T1', 'RUNX1', '24616160', '111', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'In this study, we investigated the feasibility and performances of RUNX1-RUNX1T1 DNA as MRD marker in AML with t(8;21).     ///    Minimal residual disease monitoring in t(8;21) acute myeloid leukemia based on RUNX1-RUNX1T1 fusion quantification on genomic DNA..     ///    RUNX1-RUNX1T1 fusion transcript is a well-established marker for minimal residual disease (MRD) monitoring.     ///    \"Discordant MRD results were observed in 10/71 (14%) of the samples: in three samples from two patients who relapsed, RUNX1-RUNX1T1 was detectable only on DNA, while RUNX1-RUNX1T1 was detectable only on RNA in seven samples. \"    ///    \"RUNX1-RUNX1T1 MRD levels measured on DNA and RNA were strongly correlated (r = 0.8, P < 0.0001). \"    ///    RUNX1-RUNX1T1 DNA quantification was performed by real-time quantitative PCR using patient-specific primers and probe. '), ('3297', 'EML4_ALK', '', 'EML4', 'ALK', '23301645', '111', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'EML4-ALK fusion gene, first described five years ago in patients with lung adenocarcinoma, undoubtedly has oncogenic potential and represents a promising candidate for targeted therapy.     ///    \"[EML4-ALK fusion gene in patients with lung carcinoma: biology, diagnostics and targeted therapy].. \"    ///    \"Therefore, novel, highly specific inhibitors able to overcome resistance of mutated EML4-ALK are needed. \"    ///    EML4-ALK fusion occurs due to paracentric inversion in the short arm of chromosome 2 and is detected in 3-5% of patients with non-small cell lung cancer. ');
INSERT INTO `ChimerPub_dump` VALUES ('3298', 'ETO_AML1', '', 'ETO', 'AML1', '20808941', '111', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'In contrast, fusion genes such as AML1/ETO or CBFB/MYH11 failed to reproduce the epigenetic signature observed in the patients. '), ('3299', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '15500716', '111', 'hypereosinophilic syndrome\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'FIP1L1-PDGFRA fusion genes were found in 3 of the 4 HES patients.     ///    The identification of FIP1L1-PDGFRA rearrangement is a useful molecular mark for HES diagnosis and works as the therapeutic target of imatinib.     ///    \" To determine whether FIP1L1-PDGFRA fusion exists in hypereosinophilic syndrome (HES) patients, explore the relationship between FIP1L1-PDGFRA fusion and clinical phenotypes, and observe and reveal the expression of signal transducer and activator of transcription 5 (STAT(5)) in granulocytes of HES and the biological significance thereof. \"    ///    \"[Identification of FIP1L1-PDGFRA fusion, and expression of signal transducer and activator of transcription 5 in hypereosinophilic syndrome].. \"    ///    \"The expression of STAT(5) protein was upregulated in FIP1L1-PDGFRA positive HES patients, while STAT(5) protein expression was negative in HES patients without FIP1L1-PDGFRA fusion. \"    ///    \"Furthermore, the activation of STAT(5), a downstream signal of the FIP1L1-PDGFRA fusion, indicates that HES is a malignant clonal disease of the hematopoietic tissue.. \"    ///    FIP1L1-PDGFRA fusion has a universal significance for HES.     ///    The patients with FIP1L1-PDGFRA fusion were susceptible to cardiac involvement. '), ('3300', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '26449661', '111', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The t(8;21) rearrangement, which creates the AML1-ETO fusion protein, represents the most common chromosomal translocation in acute myeloid leukemia (AML).     ///    \"CBL depletion by shRNA also promotes the growth of AML1-ETO cells, demonstrating the inhibitory function of endogenous CBL in t(8;21) AML. \"    ///    \"Interestingly, we found the protein tyrosine phosphatase UBASH3B/Sts-1, which is known to inhibit CBL function, is upregulated by AML1-ETO through transcriptional and miR-9-mediated regulation. \"    ///    \"The growth inhibition caused by UBASH3B/Sts-1 depletion can be rescued by ectopic expression of CBL mutants, suggesting that UBASH3B/Sts-1 supports the growth of AML1-ETO cells partly through modulation of CBL function. \"    ///    \"Mechanistically, loss of CBL function confers hyper-responsiveness to thrombopoietin and enhances STAT5/AKT/ERK/Src signaling in AML1-ETO cells. \"    ///    \"In this study, we demonstrate that CBL mutations collaborate with AML1-ETO to expand human CD34+ cells both in vitro and in a xenograft model. \"    ///    UBASH3B/Sts-1 depletion induces an aberrant pattern of CBL phosphorylation and impairs proliferation in AML1-ETO cells.     ///    UBASH3B/Sts-1-CBL axis regulates myeloid proliferation in human preleukemia induced by AML1-ETO.. '), ('3301', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '20010473', '111', 'leukemia;hypereosinophilic syndrome\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In chronic myeloid neoplasm with eosinophilia and abnormalities of PDGFRA the FIP1L1-PDGFRA fusion gene can be detected.     ///    \"Thus, reverse-transcription polymerase chain reaction (RT-PCR)is indicated in all patients with HES in order to detect the FIP1L1-PDGFRA transcript. \"'), ('3302', 'MYH11_CBFB', 't(1;19) / t(12;21) / t(8;21) / t(8;14) / t(9;22) / t(10;11) / t(15;17) / inv(16) / ', 'MYH11', 'CBFB', '15843827', '111', 'hematologic malignancy', '', '', '', '', '', '', '', '', 'Using cDNA microarrays, we determined the gene expression profiles of 40 cell lines as well as of primary leukemias harboring 11q23/MLL rearrangements, t(1;19)[TCF3/PBX1], t(12;21)[ETV6/RUNX1], t(8;21)[RUNX1/CBFA2T1], t(8;14)[IGH@/MYC], t(8;14)[TRA@/MYC], t(9;22)[BCR/ABL1], t(10;11)[PICALM/MLLT10], t(15;17)[PML/RARA], or inv(16)[CBFB/MYH11]. '), ('3303', 'SEPT9_ABL1', '', 'SEPT9', 'ABL1', '25068103', '111', 'T cell leukemia', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'We herein report a case of T-PLL with a novel SEPT9-ABL1 fusion gene which induced strong resistance to tyrosine kinase inhibitors such as imatinib and dasatinib.     ///    Identification of a novel SEPT9-ABL1 fusion gene in a patient with T-cell prolymphocytic leukemia.. '), ('3304', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '25101977', '111', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Here we show that in t(8;21) acute myelogenous leukemia (AML), hematopoietic stem cells (HSCs) transform into LSCs via definitively-ordered acquisition of Class II (AML1/ETO) and then Class I (c-KIT mutant) abnormalities.     ///    \"Thus, in t(8;21) AML, the acquisition of AML1/ETO is not sufficient, and the subsequent upregulation of AML1/ETO and the additional c-KIT mutant signaling are critical steps for transformation into LSCs.. \"    ///    \"At diagnosis, all single LSCs had both AML1/ETO and c-KIT mutations. \"    ///    \"These cells had wild-type c-KIT, which expressed AML1/ETO at a low level, and could differentiate into mature blood cells, suggesting that they may be the persistent preleukemic stem cells. \"    ///    \"However, in remission, 16 out of 1,728 CD34(+)CD38(-) HSCs and 89 out of 7,187 single HSC-derived myeloerythroid colonies from these patients had AML1/ETO, whose breakpoints were identical to those found in LSCs. \"'), ('3305', 'THY1_ETS1', 't(11;14)  / t(11;19)  / t(11;14)(q23;q32) / t(11;19)(q23;p13) / ', 'THY1', 'ETS1', '1742746', '111', 'leukemia;B cell lymphoma;lymphoma\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', ' We previously demonstrated that the breakpoint of t(11;14)(q23;q32) in the RC-K8 B cell lymphoma cell line lies between CD3 and THY1/ETS1 on chromosome 11q23, and we cloned this region and named it the rck locus.     ///    These data allowed us to construct the following order of genes: 11 cen-q23-CD3-rck-PBGD-THY1/ETS1. '), ('3306', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '16136348', '111', 'hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'This refined hypothesis has been confirmed by the discovery of the novel FIP1L1-PDGFRA fusion gene, which is a gain-of-function gene on chromosome 4q12. '), ('3307', 'TP53BP1_PDGFRB', '', 'TP53BP1', 'PDGFRB', '22169300', '111', 'myeloproliferative disorder\r\r', 'PCR', 'Kinase', '', '', 'Receptor', 'Transcription_Factor', 'KB', '', 'GIT2-PDGFRB, TP53BP1-PDGFRB and WDP48-PDGFRB fusion gene in 1 case, respectively. '), ('3308', 'TCF3_PBX1', 't(1;19) / t(12;21) / t(8;21) / t(8;14) / t(9;22) / t(10;11) / t(15;17) / inv(16) / ', 'TCF3', 'PBX1', '15843827', '111', 'hematologic malignancy', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Using cDNA microarrays, we determined the gene expression profiles of 40 cell lines as well as of primary leukemias harboring 11q23/MLL rearrangements, t(1;19)[TCF3/PBX1], t(12;21)[ETV6/RUNX1], t(8;21)[RUNX1/CBFA2T1], t(8;14)[IGH@/MYC], t(8;14)[TRA@/MYC], t(9;22)[BCR/ABL1], t(10;11)[PICALM/MLLT10], t(15;17)[PML/RARA], or inv(16)[CBFB/MYH11]. '), ('3309', 'BP5_BP4', 'chr15:28 / ', 'BP5', 'BP4', '18805830', '111', '', '', '', '', '', '', '', '', '', 'BP4-BP5 covers approximately 1.5 Mb (chr15:28.719-30.298 Mb) and includes six reference genes and 1 miRNA gene, while the smaller duplications cover approximately 500 kb (chr15:28.902-29.404 Mb) and contain three reference genes and one miRNA gene.     ///    \"The phenotype of chromosome 15q13.2q13.3 BP4-BP5 microdeletion/duplication syndrome may include features of autism spectrum disorder, a variety of neuropsychiatric disorders, and cognitive impairment. \"    ///    \"These BP4-BP5 deletion cases exhibit minor dysmorphic features, significant expressive language deficits, and a spectrum of neuropsychiatric impairments that include autism spectrum disorder, attention deficit hyperactivity disorder, anxiety disorder, and mood disorder. \"    ///    \"We report the clinical features of five patients with a BP4-BP5 deletion, three with a BP4-BP5 duplication, and two with an overlapping but smaller duplication identified by whole genome high resolution oligonucleotide array CGH. \"    ///    \"The BP4-BP5 deletion and duplication events span CHRNA7, a candidate gene for seizures. \"    ///    \" Segmental duplications at breakpoints (BP4-BP5) of chromosome 15q13.2q13.3 mediate a recurrent genomic imbalance syndrome associated with mental retardation, epilepsy, and/or electroencephalogram (EEG) abnormalities. \"'), ('3310', 'PDGFRB_HIP1', '', 'PDGFRB', 'HIP1', '22169300', '111', 'myeloproliferative disorder\r\r', 'PCR', 'Kinase', '', '', 'Receptor', '', 'KB', '', 'HIP1-PDGFRB fusion gene in 2 cases. '), ('3311', 'MYH11_CBFB', 'inv(16)(p13q22) / del(16)(q22) / del(16)  / ', 'MYH11', 'CBFB', '8739792', '111', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'To our knowledge, this is the first report of an AML (M1) case with del(16) and CBFB/MYH11 rearrangement..     ///    CBFB/MYH11 fusion transcripts in a case of acute myelogenous leukemia (M1) with partial deletion of the long arm of chromosome 16.. '), ('3312', 'ZNF198_FGFR1', 't(8;13)  / t(8;13)(p11;q12) / ', 'ZNF198', 'FGFR1', '9889006', '111', '', 'PCR', 'Kinase', '', '', '', '', 'KB', '', 'It remains unclear why the t(8;13) translocation breakpoints occur within such small genomic regions, and it is possible that strict ZNF198-FGFR1 coding requirements restrict the positions of the breakpoints.. '), ('3313', 'MLLT10_MLL', 't(10;19;11) / p12.31;q13.31 / ', 'MLLT10', 'MLL', '25725124', '111', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', 'KB', '', 'Molecular cytogenetics revealed that the MLL gene was disrupted and even partially lost due to a t(10;19;11)(p12.31;q13.31;q23.3), an MLL/MLLT10 fusion appeared, and the der(Y) was an asymmetric inverted duplication with breakpoints in Yp11.2 and Yq11.23. '), ('3314', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '20633965', '111', 'hypereosinophilic syndrome;lymphoproliferative disorder\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', '[Synchronous detection of T-cell clonality and FIP1L1-PDGFRA fusion gene in a hypereosinophilic syndrome].. '), ('3315', 'TEL_AML1', 't(12;21)(p12;q22) / ', 'TEL', 'AML1', '12220513', '111', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' Human chromosome translocation t(12;21)(p12;q22) is the most frequent chromosome rearrangement in childhood B-lineage acute lymphoblastic leukemia (ALL), and produces the TEL/AML1 fusion protein.     ///    \"Furthermore, TEL/AML1 has been shown to interfere with AML1-mediated transactivation on the CR1 gene. \"    ///    \"To understand the mechanism of the TEL/AML1-mediated repression, we used transient-transfection assay and immunofluorescence to monitor subcellular localization of TEL/AML1. \"    ///    \"Here, we show that TEL/AML1 is localized in the cytoplasm and the transcriptional activities of CR1 promoter are affected by the subcellular localization of TEL/AML1 fusion protein.. \"    ///    Correlation between cellular localization of TEL/AML1 fusion protein and repression of AML1-mediated transactivation of CR1 gene..     ///    \"The chimeric protein, TEL/AML1 contains the first 336 amino acids of TEL that is linked to residues 21-480 of AML1 and the fusion protein is generally known as a transcription repressor to the various target genes. \"'), ('3316', 'Immunoglobulin _BCL2', 't(14;18)  / t(14;18) / ', 'Immunoglobulin ', 'BCL2', '7518860', '111', 'non Hodgkin lymphoma;follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Using the polymerase chain reaction (PCR) assay for the major breakpoint regions (MBR) of the bcl-2/immunoglobulin H (IgH) translocation, 22 patients had autografts positive for the t(14;18) translocation, whereas seven patients had PCR-negative transplants. '), ('3317', 'RUNX1_CBFA2T1', 't(1;19) / t(12;21) / t(8;21) / t(8;14) / t(9;22) / t(10;11) / t(15;17) / inv(16) / ', 'RUNX1', 'CBFA2T1', '15843827', '111', 'hematologic malignancy', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Using cDNA microarrays, we determined the gene expression profiles of 40 cell lines as well as of primary leukemias harboring 11q23/MLL rearrangements, t(1;19)[TCF3/PBX1], t(12;21)[ETV6/RUNX1], t(8;21)[RUNX1/CBFA2T1], t(8;14)[IGH@/MYC], t(8;14)[TRA@/MYC], t(9;22)[BCR/ABL1], t(10;11)[PICALM/MLLT10], t(15;17)[PML/RARA], or inv(16)[CBFB/MYH11]. '), ('3318', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '25928846', '111', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'The t(8;21) chromosomal translocation produces AML1-ETO, an oncogenic fusion protein that compromises the function of AML1, a transcription factor critical for myeloid cell differentiation.     ///    \"Our findings establish a novel and dominant t(8;21) AML leukemia signature characterized by occupancy of AML1-ETO/N-CoR at promoter-distal genomic regions enriched in motifs for myeloid differentiation factors, thus providing mechanistic insight into the leukemic phenotype.. \"    ///    Genome-wide co-occupancy of AML1-ETO and N-CoR defines the t(8;21) AML signature in leukemic cells..     ///    We report the co-localization of AML1-ETO with the N-CoR co-repressor to be primarily on genomic regions distal to transcriptional start sites (TSSs).     ///    \"Furthermore, a substantial fraction of AML1-ETO/p300 co-localization occurs near TSSs in promoter regions associated with transcriptionally active loci. \"    ///    \"Because of the pressing need for new therapies in the treatment of acute myleoid leukemia, we investigated the genome-wide occupancy of AML1-ETO in leukemic cells to discover novel regulatory mechanisms involving AML-ETO bound genes. \"    ///    \"In contrast, the AML1-ETO/p300 gene network is less responsive to AML1-ETO depletion and less associated with the differentiation block characteristic of leukemic cells. \"    ///    \"A significant discovery of our study is that genes co-occupied by AML1-ETO and N-CoR (e.g., TYROBP and LAPTM5) are associated with the leukemic phenotype, as determined by analyses of gene ontology and by the observation that these genes are predominantly up-regulated upon AML1-ETO depletion. \"'), ('3319', 'ZNF198_FGFR1', '', 'ZNF198', 'FGFR1', '19175693', '111', 'essential thrombocythemia;polycythemia vera;primary myelofibrosis;systemic mastocytosis', '', 'Kinase', '', '', '', '', 'KB', '', 'It is hoped that the same will happen in other MPN with specific genetic alterations: polycythemia vera (JAK2 V617F and other JAK2 mutations), essential thrombocythemia (JAK2V617F and MPL515 mutations), primary myelofibrosis (JAK2 V617F and MPL515 mutations), systemic mastocytosis (KITD816V and other KIT mutations) and stem cell leukaemia/lymphoma (ZNF198-FGFR1 and other FGFR1 fusion genes). '), ('3320', 'MLT_API2', 't(11;18) / t(11;18)(q21;q21) / ', 'MLT', 'API2', '10751367', '111', 'B cell lymphoma;lymphoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The product of the t(11;18), an API2-MLT fusion, marks nearly half of gastric MALT type lymphomas without large cell proliferation..     ///    A genuine API2-MLT fusion transcript of variable length was demonstrated in 11 out of 58 cases.     ///    Here we report the development of an RT-PCR approach for the detection of the API2-MLT fusion transcript and its application for the analysis of 58 cases of gastric lymphoma.     ///    These observations allowed us to work out a highly sensitive diagnostic test for the API2-MLT fusion on an ABI Prism 7700 sequence detector that confirmed the results of our initial approach.     ///    The API2-MLT fusion was found in 48% of gastric marginal zone cell lymphomas of MALT type that did not contain a large cell component and it was lacking in all other lymphomas of the stomach.. '), ('3321', 'MYH11_CBFB', 'inv(16)  / ', 'MYH11', 'CBFB', '25266220', '111', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Here, we report a novel hypomethylation pattern, specific to CBFB-MYH11 fusion resulting from inv(16) rearrangement that is associated with genes previously described as upregulated in inv(16) AML.     ///    CBFB-MYH11 hypomethylation signature and PBX3 differential methylation revealed by targeted bisulfite sequencing in patients with acute myeloid leukemia.. '), ('3322', 'PICALM_MLLT10', 't(1;19) / t(12;21) / t(8;21) / t(8;14) / t(9;22) / t(10;11) / t(15;17) / inv(16) / ', 'PICALM', 'MLLT10', '15843827', '111', 'hematologic malignancy', '', '', '', '', '', '', 'KB', 'Seq', 'Using cDNA microarrays, we determined the gene expression profiles of 40 cell lines as well as of primary leukemias harboring 11q23/MLL rearrangements, t(1;19)[TCF3/PBX1], t(12;21)[ETV6/RUNX1], t(8;21)[RUNX1/CBFA2T1], t(8;14)[IGH@/MYC], t(8;14)[TRA@/MYC], t(9;22)[BCR/ABL1], t(10;11)[PICALM/MLLT10], t(15;17)[PML/RARA], or inv(16)[CBFB/MYH11]. '), ('3323', 'BCR_ABL1', '', 'BCR', 'ABL1', '20955401', '111', 'non Hodgkin lymphoma;hypereosinophilic syndrome;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Molecular features of 10 pHES patients were analysed at presentation and during their clinical course, including analysis of BCR-ABL1 and FIP1L1/PDGFRA fusion genes, quantitation of WT1 gene copy number and clonality of T-cell receptor (TCR) and immunoglobulin heavy chain (IGH). '), ('3324', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '22528566', '111', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'The simultaneous presence of two adverse genetic aberrations is of special interest: ETV6-RUNX1 fusion gene is associated with good prognosis and intrachromosomal amplification of the homologue RUNX1 gene is associated with poor prognosis.     ///    \"We report six childhood acute lymphoid leukemia (ALL) cases with rare cytogenetic aberrations: five with RUNX1, ABL1 or MLL proto-oncogene amplification and one case of multiple copies of ETV6/RUNX1 fusion genes. \"'), ('3325', 'RARA_PML', 't(15;17) / t(15;17)  / ', 'RARA', 'PML', '7647002', '111', '', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', ' Acute promyelocytic leukaemia (APL) is characterized by t(15;17), which results in the formation of two chimaeric genes, PML-RAR alpha and RAR alpha-PML.     ///    \"Our results, however, show persistence of t(15;17) cells expressing RAR alpha-PML fusion mRNA in patients in long-term remission of APL. \"    ///    Persistence of RAR alpha-PML fusion mRNA detected by reverse transcriptase polymerase chain reaction in patients in long-term remission of acute promyelocytic leukaemia..     ///    PML-RAR alpha transcripts have been detected in all cases of APL whilst those of RAR alpha-PML have been detected in only about 67% of cases.     ///    The level of sensitivity for detecting RAR alpha-PML was some 10-fold higher than that for PML-RAR alpha.     ///    \"All patients were negative for PML-RAR alpha, whereas in six patients (remission 3-9 years) RAR alpha-PML was consistently detected. \"    ///    \"Only one patient at remission showed the 5\' breakpoint RAR alpha-PML, with the rest showing the 3\' breakpoint 144 bp RAR alpha-PML. \"'), ('3326', 'TRA_MYC', 't(1;19) / t(12;21) / t(8;21) / t(8;14) / t(9;22) / t(10;11) / t(15;17) / inv(16) / ', 'TRA', 'MYC', '15843827', '111', 'hematologic malignancy', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Using cDNA microarrays, we determined the gene expression profiles of 40 cell lines as well as of primary leukemias harboring 11q23/MLL rearrangements, t(1;19)[TCF3/PBX1], t(12;21)[ETV6/RUNX1], t(8;21)[RUNX1/CBFA2T1], t(8;14)[IGH@/MYC], t(8;14)[TRA@/MYC], t(9;22)[BCR/ABL1], t(10;11)[PICALM/MLLT10], t(15;17)[PML/RARA], or inv(16)[CBFB/MYH11]. '), ('3327', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '20589620', '111', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The FIP1L1-PDGFRA fusion gene is the most frequent genetic aberration in myeloid neoplasms associated with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1.     ///    Pediatric cases are rare and so far only one case of FIP1L1-PDGFRA positive disease has been reported. '), ('3328', 'SPAG9_JAK2', 't(9;17)(p24;q21) / ', 'SPAG9', 'JAK2', '25951811', '111', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' We have identified a novel SPAG9-JAK2 fusion in a B-cell precursor acute lymphoblastic leukemia (ALL) with t(9;17)(p24;q21) and a poor outcome, using paired-end transcriptome sequencing.     ///    Having both a tyrosine kinase-activating rearrangement and genomic lesions affecting lymphoid transcription factors suggested that the leukemia was of the Philadelphia chromosome (Ph)/BCR-ABL1-like ALL subtype and that JAK2 inhibitors might be able to overcome this aggressive ALL with SPAG9-JAK2.. '), ('3329', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '23199263', '111', 'dermatofibrosarcoma protuberans;sarcoma\r\r', '', '', 'Oncogene', '', '', '', 'KB', '', 'To our knowledge, this is the second case of atrophic dermatofibrosarcoma protuberans confirmed by detection of COL1A1-PDGFB fusion gene.     ///    Atrophic dermatofibrosarcoma protuberans: report of a case demonstrated by detecting COL1A1-PDGFB rearrangement.. '), ('3330', 'RUNX1_ETV6', 't(1;19) / t(12;21) / t(8;21) / t(8;14) / t(9;22) / t(10;11) / t(15;17) / inv(16) / ', 'RUNX1', 'ETV6', '15843827', '111', 'hematologic malignancy', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Using cDNA microarrays, we determined the gene expression profiles of 40 cell lines as well as of primary leukemias harboring 11q23/MLL rearrangements, t(1;19)[TCF3/PBX1], t(12;21)[ETV6/RUNX1], t(8;21)[RUNX1/CBFA2T1], t(8;14)[IGH@/MYC], t(8;14)[TRA@/MYC], t(9;22)[BCR/ABL1], t(10;11)[PICALM/MLLT10], t(15;17)[PML/RARA], or inv(16)[CBFB/MYH11]. '), ('3331', 'EML4_ALK', '', 'EML4', 'ALK', '21475126', '111', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The EML4-ALK fusion gene was first identified as a potentially targetable oncogenic driver in non-small cell lung cancer in 2007.     ///    \"Here we review the discovery of EML4-ALK, the development of clinical diagnostics for ALK rearrangements, the clinical epidemiology of lung cancers driven by EML4-ALK, and ongoing ALK inhibitor-based clinical trials.. \"    ///    New targets in advanced NSCLC: EML4-ALK.. '), ('3332', 'ETO_AML1', 't(8;21)(q22;q22) / inv(16)(p13q22) / t(16;16)(p13;q22) / t(8;21)  / inv(16) / inv(16)  / ', 'ETO', 'AML1', '22032582', '111', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The rearrangements t(8;21) and inv(16) involve the  RUNX1/RUNX1T1  ( AML1-ETO ) and  CBFB/MYH11  genes, respectively. '), ('3333', 'PDGFRB_CEP85L', 't(5;6)  / ', 'PDGFRB', 'CEP85L', '23186533', '111', 'hematologic malignancy\r\r', 'PCR', 'Kinase', '', '', 'Receptor', '', '', '', 'Recurrent CEP85L-PDGFRB fusion in patient with t(5;6) and imatinib-responsive myeloproliferative neoplasm with eosinophilia..     ///    \"Minimal residual disease screening over 3 years with nested PCR failed to detect CEP85L-PDGFRB mRNA or genomic DNA, confirming a long-term molecular remission on imatinib.. \"    ///    \"Here, we report a recurrent CEP85L-PDGFRB fusion in a patient with eosinophilia and an MPN. \"'), ('3334', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '20955401', '111', 'non Hodgkin lymphoma;hypereosinophilic syndrome;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Molecular features of 10 pHES patients were analysed at presentation and during their clinical course, including analysis of BCR-ABL1 and FIP1L1/PDGFRA fusion genes, quantitation of WT1 gene copy number and clonality of T-cell receptor (TCR) and immunoglobulin heavy chain (IGH).     ///    One patient had a PDGFRA/FIP1L1 fusion and achieved hematologic and molecular remission after imatinib therapy. '), ('3335', 'HBG2_HBG1', '', 'HBG2', 'HBG1', '19807730', '111', '', '', '', '', '', '', '', '', '', 'Three subjects were found to have deletions in the globin gene cluster, including a beta-thalassaemia due to deletion of HBB (beta-globin gene), an HPFH due to deletions of HBD (delta-globin gene) and HBB, and an HPFH due to a novel HBG2-HBG1 fusion gene consisting of exons 1 and 2 of HBG2 ((G)gamma-globin gene) and exon 3 of HBG1 ((A)gamma-globin gene).     ///    The case with the HBG2-HBG1 fusion suggested the existence of another mechanism for the reactivation of HBG2 and HBG1. '), ('3336', 'RARA_PL', 't(3;15) (q26;q13) / t(15;17) (q22;q21) / ', 'RARA', 'PL', '24009642', '111', 'disseminated intravascular coagulation\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', ' Acute promyelocytic leukaemia (APML) is a biologically and clinically distinct variant of AML, currently classified as acute myeloid leukaemia with recurrent cytogenetic anomalies t(15;17) (q22;q21), promyelocytic leukaemia-retinoic acid receptor alpha, diagnosis regardless of blast count in the World Health Organization classification system. '), ('3337', 'ETV6_NTRK3', 't(12;15)(p13;q25) / / ', 'ETV6', 'NTRK3', '18068631', '110', 'breast cancer;breast carcinoma\r\r', '', 'Kinase', '', '', '', '', 'KB', 'Seq', 'To better understand the cellular origin of breast cancer, we developed a mouse model that recapitulates expression of the ETV6-NTRK3 (EN) fusion oncoprotein, the product of the t(12;15)(p13;q25) translocation characteristic of human secretory breast carcinoma.    ///    \" To better understand the cellular origin of breast cancer, we developed a mouse model that recapitulates expression of the ETV6-NTRK3 (EN) fusion oncoprotein, the product of the t(12;15)(p13;q25) translocation characteristic of human secretory breast carcinoma. \"'), ('3338', 'NUP98_PHF23', 't(11;17)(p15;p13) / ', 'NUP98', 'PHF23', '17287853', '110', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', 'Seq', 'A novel NUP98-PHF23 fusion resulting from a cryptic translocation t(11;17)(p15;p13) in acute myeloid leukemia.     ///    A novel NUP98-PHF23 fusion resulting from a cryptic translocation t(11;17)(p15;p13) in acute myeloid leukemia.. '), ('3339', 'TEL_AML1', 't(12;21)(p13;q22) / ', 'TEL', 'AML1', '11432885', '110', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The aim of this study was to investigate whether, in relapsed childhood acute lymphoblastic leukemia (ALL), the frequent genetic feature of TEL-AML1 fusion resulting from the cryptic chromosomal translocation t(12;21)(p13;q22) is an independent risk factor.     ///    \"The probabilities with SE of event-free survival and survival at 5 years for matched TEL-AML1 positives and negatives are 0.63 +/- 0.10 versus 0.38 +/- 0.10 (P =.09) and 0.82 +/- 0.09 versus 0.42 +/- 0.19 (P =.10), respectively. \"    ///    \"A total of 249 patients were eligible for this study: 53 (21%) were positive for TEL-AML1, and 196 (79%) were negative. \"    ///    TEL-AML1 expression does not constitute an independent risk factor in relapsed childhood BCP-ALL after matching for relevant prognostic parameters.     ///    \"These results were confirmed by multivariate analysis, revealing an independent prognostic significance of time point and site of relapse (both P <.001) but not of TEL-AML1 expression (P =.09). \"'), ('3340', 'PDGFB_COL1A1', 't(17;22) / t(17;22)(q22;q13) / ', 'PDGFB', 'COL1A1', '16843106', '110', 'dermatofibrosarcoma protuberans;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', '', 'KB', '', 'COL1A1-PDGFB fusion in a pediatric Bednar tumor with 2 copies of a der(22)t(17;22)..     ///    Fluorescence in situ hybridization (FISH) analysis demonstrated the COL1A1-PDGFB fusion on both der(22) chromosomes. '), ('3341', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '18416028', '110', 'acute myeloid leukemia;leukemia', '', '', '', '', '', '', '', '', 'In this context, we recently reported a link between the differentiation block of leukemia and the epigenetic silencing of the microRNA-223 gene by the AML1/ETO oncoprotein, the product of the t(8;21) the commonest AML-associated chromosomal translocation. '), ('3342', 'ETO_AML1', 't(8;21)(q22;q22) / t(8;21)  / t(8;21) / ', 'ETO', 'AML1', '18952841', '110', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' AML1-ETO is generated from t(8;21)(q22;q22), which is a common form of chromosomal translocation associated with development of acute myeloid leukemia (AML).     ///    \"In t(8;21) AML patient-derived primary leukemic cells and cell lines, abnormal cytoplasmic localization of SON was detected, which may keep cells proliferating in the presence of full-length AML1-ETO. \"    ///    \"However, full-length AML1-ETO is a major form of fusion product in many t(8;21) AML patients, suggesting additional molecular mechanisms of t(8;21)-related leukemogenesis. \"    ///    \"Here, we report that disruption of the zinc-chelating structure in the NHR4 domain of AML1-ETO by replacing only one critical amino acid leads to rapid onset of leukemia, demonstrating that the NHR4 domain with the intact structure generates inhibitory effects on leukemogenesis. \"    ///    Disruption of the NHR4 domain structure in AML1-ETO abrogates SON binding and promotes leukemogenesis..     ///    \"Although full-length AML1-ETO alone fails to promote leukemia because of its detrimental effects on cell proliferation, an alternatively spliced isoform, AML1-ETO9a, without its C-terminal NHR3/NHR4 domains, strongly induces leukemia. \"'), ('3343', 'TEL_AML1', 't(9;22) / t(1;19) / t(4;11) / t(12;21)  / t(12;21) / ', 'TEL', 'AML1', '12116073', '110', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In this cohort of Taiwan children, the relative frequencies of the four translocations of B-lineage ALL were as following: 6% with ALL-type t(9;22)/BCR-ABL, 7% t(1;19)/E2A-PBX1, 3% t(4;11)/MLL-AF4, and 18% t(12;21)/TEL-AML1, comparable to those in the Western countries.     ///    \"We use a multiplex RT-PCR assay to detect both the CML- and ALL-type BCR-ABL transcripts of the t(9;22), all described variants of the E2A-PBX1 transcripts of t(1;19), the MLL-AF4 transcripts of t(4;11), and all described variants of TEL-AML1 (also termed ETV6-CBFA2) of the cryptic t(12;21) in 165 leukemic samples at diagnosis. \"'), ('3344', 'TAL1_SIL', '', 'TAL1', 'SIL', '9080116', '110', 'T ALL\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Therefore, we tried to interfere with the transcription of the SIL/tal-1 fusion gene, the most common form of aberrant tal-1, by treatment with antisense oligodeoxynucleotides (ODNs).     ///    With both approaches a single-dose application of 3 mumol of ODN led to a significant antiproliferative effect of a about 25-60% in two T-ALL cell lines characterized by the SIL/tal-1 fusion gene.     ///    \"The potential of two different strategies was investigated, one targeting the cell line specific SIL/tal-1 fusion region, the other using an ODN complementary to tal-1 sequence downstream of the region not affected by any of the known types of tal-1 rearrangement. \"'), ('3345', 'PMX1_NUP98', 't(1;11)  / ', 'PMX1', 'NUP98', '16651408', '110', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'To gain insights into the molecular mechanisms underlying the leukemogenesis of NUP98-HOX fusion products, we cloned NUP98-PMX1 from a CML-blast crisis patient with t(1;11) as a secondary chromosomal translocation, and functionally studied the fusion products in detail through various molecular and protein biochemical assays.     ///    Trans-repressive effect of NUP98-PMX1 on PMX1-regulated c-FOS gene through recruitment of histone deacetylase 1 by FG repeats..     ///    \"Moreover, we have provided evidence that the FG domains of NUP98-PMX1 and two other NUP98-containing fusion proteins, i.e., NUP98-HOXA9 and NUP98-HOXC11, all exhibit dual binding ability to both CREB binding protein, a coactivator, and histone deacetylase 1, a corepressor. \"    ///    \"In addition to many interesting features, we have found that the NUP98-PMX1 fusion protein exerts a repressive effect on PMX1 or serum response factor-mediated c-FOS activation, probably through the recruitment of a common corepressor histone deacetylase 1 by FG domains of the NUP98-PMX1 fusion protein. \"'), ('3346', 'MALT1_API2', 't(11;18)(q21;q21) / ', 'MALT1', 'API2', '15280657', '110', '', '', '', '', '', '', '', '', '', 'MALTs are genetically characterized by the t(11;18)(q21;q21) chromosomal translocation that results in API2/MALT1 fusion products.     ///    \"Furthermore, we demonstrate that API2/MALT1 mediated NF-kappaB activation does not alter p53 protein levels or subcellular localization suggesting a post-translational or indirect mechanism of p53 deregulation.. \"    ///    Actvation of NF-kappaB by the API2/MALT1 fusions inhibits p53 dependant but not FAS induced apoptosis: a directional link between NF-kappaB and p53..     ///    \"Here, we demonstrate that API2/MALT1 mediated inhibition of apoptosis is p53 specific, as distinct API2/MALT1 fusion proteins fail to protect cells from FAS induced cell death. \"    ///    It was shown that distinct API2/MALT1 chimeric proteins function as oncogenes that bilaterally confer a proliferative advantage to the neoplastic clone by activating the NF-kappaB signaling pathway and also inhibiting p53 mediated cell death. '), ('3347', 'RARA_PML', 't(15;17)  / t(15;17) / ', 'RARA', 'PML', '19109227', '110', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', ' Acute promyelocytic leukemia (APL) is a hematopoietic malignant disease characterized by the chromosomal translocation t(15;17), resulting in the formation of the PML-RARA gene. '), ('3348', 'NUP98_HOXA13', 't(7;11)(p15;p15) / ', 'NUP98', 'HOXA13', '12112533', '110', 'acute myeloid leukemia;myeloid leukemia;leukemia;hematologic malignancy\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', '', 'KB', '', 'The protein encoded by the NUP98-HOXA13 fusion gene is similar to that encoded by NUP98-HOXA9, and the expression pattern of the HOXA13 gene in leukemic cell lines is similar to that of the HOXA9 gene, suggesting that the NUP98-HOXA13 fusion protein may play a role in leukemogenesis through a mechanism similar to that of the NUP98-HOXA9 fusion protein..     ///    \"The NUP98-HOXA13 fusion protein consists of the N-terminal phenylalanine-glycine repeat motif of NUP98 and the C-terminal homeodomain of HOXA13, similar to the NUP98-HOXA9 fusion protein. \"'), ('3349', 'PCM1_JAK2', 't(8;9)  / ', 'PCM1', 'JAK2', '16424865', '110', 'T cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'A t(8;9) translocation with PCM1-JAK2 fusion in a patient with T-cell lymphoma.. '), ('3350', 'PCM1_JAK2', 't(8;9)  / ', 'PCM1', 'JAK2', '16034466', '110', 'myeloproliferative disorder;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'PCM1-JAK2 fusion in myeloproliferative disorders and acute erythroid leukemia with t(8;9) translocation.. '), ('3351', 'KIF5B_PDGFRA', '', 'KIF5B', 'PDGFRA', '16498388', '110', 'myeloproliferative disorder;leukemia;hypereosinophilic syndrome\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Identification of a novel imatinib responsive KIF5B-PDGFRA fusion gene following screening for PDGFRA overexpression in patients with hypereosinophilia.     ///    Identification of a novel imatinib responsive KIF5B-PDGFRA fusion gene following screening for PDGFRA overexpression in patients with hypereosinophilia..     ///    \"Imatinib, a known inhibitor of PDGFRalpha, produced a complete cytogenetic response and disappearance of the KIF5B-PDGFRA fusion by PCR, from both genomic DNA and mRNA. \"'), ('3352', 'ETO_AML1', 't(8;21) / t(8;21)  / ', 'ETO', 'AML1', '16741927', '110', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'In addition to blocking differentiation, AML1-ETO is also shown to induce growth arrest in AML cells, which is unfavorable for leukemogenesis harboring the t(8;21) translocation.     ///    \" AML1-ETO, a fusion protein generated by the chromosomal translocation t(8;21), is frequently associated with acute myeloid leukemia (AML). \"    ///    \"We also show that the CX43 induction inhibits the proliferation of U937 cells at G1 phase, while the suppression of CX43 expression by small interfering RNA (siRNA) effectively overcomes the growth-inhibitory effect of AML1 -ETO in leukemic cells. \"    ///    \"Furthermore, either AML1-ETO or CX43 induction elevates cell-cycle negative regulator P27(kip1) protein by inhibiting its degradation, which is antagonized by siRNA against CX43. \"    ///    \"Here we provide the first demonstration that the conditional expression of AML1-ETO by the ecdysone-inducible system dramatically increases the expression of connexin 43 (CX43), together with growth arrest at G1 phase in leukemic U937 cells. \"    ///    Leukemogenic AML1-ETO fusion protein upregulates expression of connexin 43: the role in AML 1-ETO-induced growth arrest in leukemic cells.. '), ('3353', 'EWS_CHOP', 't(12;22)  / t(12;16)(q13;p11) / t(12;22) / t(12;16) / ', 'EWS', 'CHOP', '9306965', '110', 'liposarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Additional evidence of a variant translocation t(12;22) with EWS/CHOP fusion in myxoid liposarcoma: clinicopathological features.. '), ('3354', 'TCF3_PBX1', 't(1;19)(q23;p13.3) / t(1;19)(q23;p13) / / ', 'TCF3', 'PBX1', '21534874', '110', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'We compared the outcome of balanced and unbalanced der(19)t(1;19) cases and also patients with t(1;19)/TCF3-PBX1 versus patients without this translocation, to assess its prognostic value.    ///    \"We compared the outcome of balanced and unbalanced der(19)t(1;19) cases and also patients with t(1;19)/TCF3-PBX1 versus patients without this translocation, to assess its prognostic value. \"    ///    Patients with t(1;19)/TCF3-PBX1 presented a good outcome with no differences between balanced and unbalanced subgroups.     ///    \"From January 1990 to December 2010, t(1;19)(q23;p13)/TCF3-PBX1 was detected in 48 cases. \"    ///    \"Thus, risk-adjustment therapy would not be necessary for cases with t(1;19)/TCF3-PBX1.. \"    ///    The pEFS of patients with t(1;19)/TCF3-PBX1 was significantly superior to that of patients without t(1;19)/TCF3-PBX1 (p-value?<0.0001).     ///    Prognostic impact of t(1;19)/ TCF3-PBX1 in childhood acute lymphoblastic leukemia in the context of Berlin-Frankfurt-M?nster-based protocols..     ///    \"The probability of event-free survival (pEFS) (standard error) of patients with t(1;19)/TCF3-PBX1 was 85% (6%), for the unbalanced group 78% (10%), and 88% (8%) for the balanced. \"'), ('3355', 'NPM_ALK', 't(2;5)(p23;q35) / t(2;5)  / ', 'NPM', 'ALK', '9121481', '110', 'non Hodgkin lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Cell fractionation studies of the t(2;5) translocation-containing lymphoma cell line SUP-M2 showed NPM-ALK to be localized within both the cytoplasmic and nuclear compartments.     ///    \"This engineered TPR-ALK hybrid protein, which transformed cells almost as efficiently as NPM-ALK, was localized solely within the cytoplasm of cells. \"    ///    \"Further, the activation of the truncated ALK protein by a completely heterologous oligomerization domain suggests that the functionally important role of the NPM segment of NPM-ALK in transformation is restricted to the formation of kinase-active oligomers and does not involve the alteration of normal NPM functions.. \"    ///    Sedimentation gradient experiments revealed that NPM-ALK forms in vivo multimeric complexes of approximately 200 kDa or greater that also contain normal NPM.     ///    \"These data indicate that the nuclear and nucleolar localization of NPM-ALK, which probably occur because of transport via the shuttling activity of NPM, is not required for oncogenesis. \"    ///    Immunostaining performed with both polyclonal and monoclonal anti-ALK antibodies confirmed the dual location of the oncoprotein and also indicated that NPM-ALK is abundant within both the nucleoplasm and the nucleolus.     ///    \"Here, we demonstrate the transforming ability of NPM-ALK and show that oncogenesis by the chimeric protein requires the activation of its kinase function as a result of oligomerization mediated by the NPM segment. \"'), ('3356', 'NPM_ALK', 't(2;5)  / ', 'NPM', 'ALK', '17073594', '110', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In human non-Hodgkin lymphomas, the NPM-ALK oncogene arising from the t(2;5) chromosomal translocation represents the most important oncogenic tyrosine kinase identified so far.     ///    Targeting the oncogenic tyrosine kinase NPM-ALK in lymphoma: the role of murine models in defining pathogenesis and treatment options..     ///    \"Here, the latest developments in the analysis of NPM-ALK induced lymphomagenesis by murine models is reviewed.. \"'), ('3357', 'FUS_DDIT3', 't(12;16)(q13;p11) / ', 'FUS', 'DDIT3', '18850010', '110', 'liposarcoma;sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'The FUS-DDIT3 fusion oncogene results from a t(12;16)(q13;p11) chromosome translocation and has a causative role in the initiation of myxoid/round cell liposarcomas (MLS/RCLS).     ///    \"The nuclear factor NFKBIZ colocalizes with FUS-DDIT3 in nuclear structures, and immunoprecipitation experiments showed that FUS-DDIT3 binds the C-terminal of NFKBIZ. \"    ///    \"The FUS-DDIT3 protein induces increased expression of the CAAT/enhancer-binding protein (C/EBP) and nuclear factor-kappaB (NF-kappaB)-controlled gene IL8, and the N-terminal FUS part is required for this activation. \"    ///    Chromatin immunoprecipitation analysis showed that FUS-DDIT3 binds the IL8 promoter.     ///    \"Taken together, the results indicate that FUS-DDIT3 deregulates some NF-kappaB-controlled genes through interactions with NFKBIZ. \"    ///    We therefore probed for possible interaction of FUS-DDIT3 with members of the NF-kappaB family.     ///    \"Taken together, the results indicate that FUS-DDIT3 deregulates some NF-kappaB-controlled genes through interactions with NFKBIZ.\"    ///    The myxoid liposarcoma FUS-DDIT3 fusion oncoprotein deregulates NF-kappaB target genes by interaction with NFKBIZ.. '), ('3358', 'PCM1_JAK2', 't(8;9)  / ', 'PCM1', 'JAK2', '16564930', '110', 'myeloproliferative disorder\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Myeloproliferative disorders carrying the t(8;9) (PCM1-JAK2) translocation.. '), ('3359', 'TPM4_ALK', '', 'TPM4', 'ALK', '12787312', '110', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Six cases showed immunohistochemical expression of the ALK protein, and two ALK-positive lesions examined by reverse transcription-polymerase chain reaction and a subsequent sequencing analysis harbored the TPM4-ALK fusion gene. '), ('3360', 'EML4_ALK', '', 'EML4', 'ALK', '18593892', '110', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The genome of a subset of non-small-cell lung cancers (NSCLC) harbors a small inversion within chromosome 2 that gives rise to a transforming fusion gene, EML4-ALK, which encodes an activated protein tyrosine kinase.     ///    \"Although breakpoints within EML4 have been identified in introns 13 and 20, giving rise to variants 1 and 2, respectively, of EML4-ALK, it has remained unclear whether other isoforms of the fusion gene are present in NSCLC cells. \"    ///    \"Although breakpoints within EML4 have been identified in introns 13 and 20, giving rise to variants 1 and 2, respectively, of EML4-ALK, it has remained unclear whether other isoforms of the fusion gene are present in NSCLC cells.\"    ///    A lung cancer cell line expressing endogenous variant 3 of EML4-ALK underwent cell death on exposure to a specific inhibitor of ALK catalytic activity.     ///    Identification of novel isoforms of the EML4-ALK transforming gene in non-small cell lung cancer..     ///    Both variants 3a and 3b of EML4-ALK exhibited marked transforming activity in vitro as well as oncogenic activity in vivo. '), ('3361', 'MALT1_API2', '', 'MALT1', 'API2', '16630483', '110', 'MALT lymphoma;B cell lymphoma;lymphoma\r\r', 'PCR', '', '', '', '', '', '', '', '[Detection of API2-MALT1 fusion gene in extranodal B-cell lymphoma and its significance]..     ///    The expression of API2-MALT1 mRNA was studied in all cases by reverse transcriptase (RT)-polymerase chain reaction (PCR) and nested PCR.     ///    API2-MALT1 transcripts were detected in 39 of the 94 lymphoma cases (with 28 cases being MALT lymphoma and 11 cases being extranodal DLBCL).     ///    \"The expression of API2-MALT1 mRNA can be detected in both MALT lymphoma and extranodal DLBCL, but not in Hashimoto\'s thyroiditis. \"    ///    \" To study the expression of API2-MALT1 mRNA in mucosa-associated lymphoid tissue (MALT) lymphoma, extranodal diffuse large B-cell lymphoma (DLBCL) and Hashimoto\'s thyroiditis, to investigate the expression pattern of API2-MALT1 variants, and to correlate the findings with the clinicopathologic features and prognosis. \"'), ('3362', 'ETO _AML1', 't(8;21) / t(8;21)  / ', 'ETO ', 'AML1', '11983111', '110', '', '', '', '', '', '', '', '', '', ' The AML1/ETO protein derived from the t(8;21) translocation retains the DNA binding domain of AML1, the runt homology domain (RHD), and nearly the complete ETO protein with its four nervy homology regions (NHR1-4).     ///    Analysis of the nuclear distribution of the translocation t(8;21)-derived fusion protein AML1/ETO by confocal laser scanning microscopy..     ///    \"To analyze which domains of AML1/ETO are responsible for its intranuclear transport and its subnuclear distribution, AML1/ETO deletion constructs tagged with green fluorescence protein were expressed transiently in 293 cells. \"    ///    \"Co-localization with AML1/ETO was complete with constructs containing the NHR2 domain, indicating that NHR2 has a crucial role in the subnuclear distribution of AML1/ETO. \"    ///    \"Finally, AML1/ETO could not be co-localized with PML and SUMO-1, indicating that AML1/ETO is not part of the nuclear bodies and probably not SUMOylated.. \"    ///    The nuclear localization signal (NLS) of AML1/ETO was mapped to a region encoded by the carboxy-terminal part of NHR1 and the sequences following up to NHR2 corresponding to the amino acids 304-489 of the AML1/ETO protein. '), ('3363', 'ETO_CDR', 't(8;21)  / t(8;21) / ', 'ETO', 'CDR', '10076566', '110', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' A proto-oncogene, MTG8 (ETO/CDR), is disrupted in the t(8;21) translocation associated with acute myeloid leukemia, and the gene product, MTG8, is a phosphoprotein capable of cell transformation in concert with v-H-ras.     ///    \"Association of MTG8 (ETO/CDR), a leukemia-related protein, with serine/threonine protein kinases and heat shock protein HSP90 in human hematopoietic cell lines.. \"'), ('3364', 'BCR_ABL1', 't(9;22) / ', 'BCR', 'ABL1', '24407376', '110', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The BCR-ABL1 oncoprotein is the cause of chronic myeloid leukemia and occurs as a consequence of the translocation t(9;22), a well-defined genetic event that results in the formation of the Philadelphia chromosome.     ///    Genetic events other than BCR-ABL1.. '), ('3365', 'P12_P11', 't(10;14)  / t(10;14) (p11;p12) / ', 'P12', 'P11', '6829605', '110', '', '', '', '', '', '', '', '', '', 'Duplication 10p in a girl due to a maternal translocation t(10;14) (p11:p12).. '), ('3366', 'PPHLN1_FGFR2', 't(10;12)(q26;q12) / ', 'PPHLN1', 'FGFR2', '25608663', '110', 'bile duct cancer', '', 'Kinase', '', '', '', '', '', '', 'Here we demonstrate that the chromosomal translocation t(10;12)(q26;q12) leading to FGFR2-PPHLN1 fusion possesses transforming and oncogenic activity, which is successfully inhibited by a selective FGFR2 inhibitor in vitro.     ///    \"By performing RNA- and exome-sequencing analyses, we report a novel fusion event, FGFR2-PPHLN1 (16%), and damaging mutations in the ARAF oncogene (11%). \"    ///    Massive parallel sequencing uncovers actionable FGFR2-PPHLN1 fusion and ARAF mutations in intrahepatic cholangiocarcinoma.. '), ('3367', 'MALT1_API2', 't(11;18)(q21;q21) / t(11;18) / ', 'MALT1', 'API2', '26981201', '110', 'MALT lymphoma', '', '', '', '', '', '', '', '', 'Cytogenetic abnormalities are commonly acquired during the course of disease and the most common is chromosomal translocation t(11;18)(q21;q21), which creates the API2-MALT1 fusion oncoprotein.     ///    \"By effectively mimicking ligand-bound TNF receptor, API2-MALT1 promotes TRAF2-dependent ubiquitination of RIP1, which then acts as a scaffold for nucleating and activating the canonical NF-?B machinery. \"    ///    \"Thus, API2-MALT1 harnesses multiple unique pathways to achieve deregulated NF-?B activation. \"    ///    \"In this review, we highlight the most recent results characterizing these unique and diverse gain-of-function activities of API2-MALT1 and how they contribute to lymphomagenesis. \"    ///    API2-MALT1 oncoprotein promotes lymphomagenesis via unique program of substrate ubiquitination and proteolysis..     ///    \"Like NIK, LIMA1 represents a unique substrate for API2-MALT1 protease activity, but unlike NIK, its cleavage sets in motion a major NF-?B-independent pathway for promoting oncogenesis. \"    ///    \"Specifically, API2-MALT1 recruits and subverts multiple other signaling factors, including LIM domain and actin-binding protein 1 (LIMA1) and Smac/DIABLO. \"    ///    Emerging data from our group and others have also detailed additional gain-of-function activities of API2-MALT1 that extend beyond NF-?B activation.     ///    \"In this regard, API2-MALT1 recognizes NF-?B inducing kinase (NIK), the essential upstream regulator of non-canonical NF-?B, and cleaves it to generate a stable, constitutively active fragment. \"'), ('3368', 'PAX7_FKHR', '', 'PAX7', 'FKHR', '12239174', '110', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'We also observed that cell lines derived from alveolar RMS, which is characterized by recurrent PAX3- and PAX7-FKHR gene fusions and is associated with a poor prognosis, expressed higher levels of CXCR4 than lines derived from embryonal RMS. '), ('3369', 'RAR_PL', 't(15;17)  / ', 'RAR', 'PL', '21422471', '110', 'chronic myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;T cell leukemia;leukemia;lymphoma\r\r', '', '', '', '', '', '', '', '', 'In the past 3 decades, arsenic was revived and shown to be able to induce complete remission and to achieve, when combined with all-trans retinoic acid and chemotherapy, a 5-year overall survival of 90% in patients with acute promyelocytic leukemia driven by the t(15;17) translocation-generated promyelocytic leukemia-retinoic acid receptor ? (PML-RAR?) fusion. '), ('3370', 'PML_RARA', 't(15;17)  / ', 'PML', 'RARA', '8564566', '110', '', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The t(15;17) translocation, specifically associated with the human acute promyelocytic leukemia (APL), fuses the retinoic acid receptor alpha (RAR alpha) to a novel gene PML generating the hybrid protein PML-RAR.     ///    This observation suggested that the changes in the myeloblastin regulation by RA found in NB4 cells could be ascribed to the presence of the fusion protein PML-RAR. '), ('3371', 'BCL2_IGH', 't(14;18)  / ', 'BCL2', 'IGH', '15470494', '110', 'non Hodgkin lymphoma;non Hodgkin lymphoma;follicular lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' We have previously reported an overexpression of Smad1 in follicular lymphoma (FL) cells, which are characterized by the t(14;18) bcl2/IgH translocation. '), ('3372', 'MALT1_API2', 't(14;18)(q32;q21) / t(11;18)(q21;q21) / ', 'MALT1', 'API2', '20430965', '110', 'MALT lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'The t(14;18)(q32;q21)/IGH-MALT1 translocation in MALT lymphomas is a CpG-type translocation, but the t(11;18)(q21;q21)/API2-MALT1 translocation in MALT lymphomas is not.. '), ('3373', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '26261653', '110', 'dermatofibrosarcoma protuberans;sarcoma\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', '', 'KB', '', 'Atrophic dermatofibrosarcoma protuberans with the fusion gene COL1A1-PDGFB detected by RT-PCR using only a single primer pair.. '), ('3374', 'NTRK3_ETV6', 't(12;15)(p13;q25) / ', 'NTRK3', 'ETV6', '25087572', '110', 'salivary gland neoplasm', '', 'Kinase', '', '', '', '', 'KB', 'Seq', ' Aspiration cytologic findings of mammary analogue secretory carcinoma (MASC), a newly established salivary gland neoplasm defined by a t(12;15)(p13;q25) ETV6-NTRK3 translocation, are not fully characterized to date. '), ('3375', 'SART3_PDGFRB', '', 'SART3', 'PDGFRB', '20107158', '110', '', 'PCR', 'Kinase', '', '', 'Receptor', '', '', '', 'Subsequently, a new SART3-PDGFRB fusion gene was identified by 5\'-rapid amplification of cDNA ends polymerase chain reaction (5\'-RACE-PCR). '), ('3376', 'NCOR1_ETO', 't(8;21)  / ', 'NCOR1', 'ETO', '25928846', '110', 'leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Our findings establish a novel and dominant t(8;21) AML leukemia signature characterized by occupancy of AML1-ETO/N-CoR at promoter-distal genomic regions enriched in motifs for myeloid differentiation factors, thus providing mechanistic insight into the leukemic phenotype.. '), ('3377', 'RARA_PML', 't(15;17) / ', 'RARA', 'PML', '24865730', '110', '', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The disease is caused by a single genetic event, namely the translocation t(15;17), which gives rise to the oncoprotein PML-RARA. '), ('3378', 'IGH_CCND1', 't(11;14)(q13;q32) / ', 'IGH', 'CCND1', '18518902', '110', 'mantle cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'All expressed cyclin D1 and carried the t(11;14)(q13;q32)/CCND1-IGH translocation. '), ('3379', 'P26_BCL2', 't(14;18)  / t(14;18) / ', 'P26', 'BCL2', '8104532', '110', 'chronic lymphocytic leukemia;non Hodgkin lymphoma;leukemia;lymphoma;lymphoproliferative disorder\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'However, immunoblot analysis using antibodies specific for the Bcl-2 protein showed that 14 of 20 cases (70%) contained levels of p26-Bcl-2 that were equal to or greater than those found in a t(14;18)-bearing lymphoma cell line. '), ('3380', 'MMSET_FGFR3', '4p16.3 / ', 'MMSET', 'FGFR3', '12965277', '110', 'monoclonal gammopathy', '', 'Kinase', '', '', '', '', '', '', 'Among the earliest genetic events are translocations of the immunoglobulin heavy-chain gene locus, which leads to dysregulation of oncogenes at translocation partner regions (cyclin D1 at 11q13, FGFR3/MMSET at 4p16.3, c-MAF at 16q23, and cyclin D3 at 6p21), and deletions of 13q14, the site of a putative tumour suppressor gene, which is an adverse prognostic indicator. '), ('3381', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '11986239', '110', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'In utero origin of t(8;21) AML1-ETO translocations in childhood acute myeloid leukemia..     ///    The t(8;21) AML1-ETO translocations were sequenced at the genomic level in 10 diagnostic leukemia samples from children with available neonatal Guthrie blood spots.     ///    \"Clonotypic genomic AML1-ETO sequences were detected in the Guthrie spots for 5 individuals, providing unambiguous evidence of prenatal origin in these cases. \"'), ('3382', 'SYT_SSX2', '', 'SYT', 'SSX2', '14704716', '110', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'For five cases, the presence of either an SYT-SSX1 (three cases) or SYT-SSX2 (two cases) gene fusion was known. '), ('3383', 'EWSR1_ATF1', 't(12;22)  / ', 'EWSR1', 'ATF1', '25671361', '110', 'chondrosarcoma;ewing sarcoma;clear cell sarcoma;melanoma;sarcoma\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'The molecular analysis carried out in one of the cutaneous metastases revealed translocation t(12;22) (EWSR1-ATF1) and ultimately led to the correct diagnosis of unusual Ewing-like clear cell sarcoma. '), ('3384', 'MALT1_API2', 't(11;18) / ', 'MALT1', 'API2', '24363507', '110', 'MALT lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'pylori-independent cases, activation of the nuclear factor-?B pathway by oncogenic products of specific chromosomal translocations such as t(11;18)/API2-MALT1, or inactivation of tumor necrosis factor alpha-induced protein 3 (A20) are considered to contribute to the lymphomagenesis. '), ('3385', 'RUNX1_ETV6', 't(12;21) / ', 'RUNX1', 'ETV6', '21444869', '110', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'In contrast, infusion duration had no significant impact on MTXPG(1-7) accumulation or antileukemic effects in ALL with the t(12;21)/(ETV6-RUNX1) chromosomal translocation. '), ('3386', 'MYC_IGH', 't(12;15)  / ', 'MYC', 'IGH', '14983023', '110', 'lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Mice doubly deficient for the five previously analyzed NHEJ factors and p53 inevitably develop progenitor B lymphomas harboring der(12)t(12;15) translocations and immunoglobin heavy chain (IgH)/c-myc coamplification mediated by a breakage-fusion-bridge mechanism. '), ('3387', 'TEL_JAK2', 't(9;12)(p24;p13) / ', 'TEL', 'JAK2', '12136932', '110', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' The TEL/JAK2 chromosomal translocation (t(9;12)(p24;p13)) is associated with T cell childhood acute lymphoblastic leukemia.     ///    Amifostine could promote apoptosis or lower the threshold for apoptosis induction dependent on TEL/JAK2 activation..     ///    TEL-mediated oligomerization of the TEL/JAK2 proteins results in the constitutive activation of the tyrosine kinase activity.     ///    \"Moreover, TEL/JAK2 tyrosine kinase might be involved in cellular response to DNA damage. \"    ///    TEL/JAK2 tyrosine kinase inhibits DNA repair in the presence of amifostine..     ///    Leukemia cells expressing TEL/JAK2 tyrosine kinase become resistant to anti-neoplastic drugs.     ///    Because TEL/JAK2-transformed cells can be considered as model cells for certain human leukemias and lymphomas we anticipate an enhancement of idarubicin cytotoxicity by amifostine in these diseases.     ///    Idarubicin induced DNA damage in both cell types but amifostine reduced its extent in control non-transformed BaF3 cells and enhanced it in TEL/JAK2-transformed cells.     ///    We investigated the effects of amifostine on idarubicin-induced DNA damage and repair in murine pro-B lymphoid BaF3 cells and BaF3-TEL/JAK2-transformed cells using alkaline single cell gel electrophoresis (comet assay).     ///    The TEL/JAK2 fusion protein contains the JAK2 catalytic domain and the TEL-specific oligomerization domain. '), ('3388', 'P14_P12', '3p14.2 / t(3;8) / p14.2;q24 / 3p21.1 / t(3;8)  / ', 'P14', 'P12', '8033088', '110', 'renal cell carcinoma;small cell lung cancer', '', '', '', '', '', '', '', '', 'However, the region 3p14-p12, a region that contains the familial RCC-associated t(3;8)(p14.2;q24) chromosome translocation and the small cell lung carcinoma-associated homozygous deletion at 3p13-12, has also been reported to exhibit allele loss in a large fraction of RCCs. '), ('3389', 'RARA_PLZF', 't(5;17)  / t(5;17)(q32;q12) / t(2;5)  / t(15;17)  / t(11;17)  / ', 'RARA', 'PLZF', '8562957', '110', 'acute promyelocytic leukemia;leukemia;lymphoma\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'The RARA sequences are the same as the RARA sequences found in the PML-RAR and PLZF-RAR fusion seen in t(15;17) and t(11;17) APL, respectively. '), ('3390', 'ETO_AML1', 't(8;21)  / t(8;21)(q22;q22) / ', 'ETO', 'AML1', '25948228', '110', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' The t(8;21)(q22;q22) translocation is the most common chromosomal abnormalities in AML, and the chromosomal translocation forms AML1-ETO.     ///    \"In this article the AML1-ETO structure and t(8;21) AML pathogenesis, the clinical researches of t(8;21) AML treatment and basic researches of t(8;21) AML treatment are summarized. \"'), ('3391', 'TEL_ARG', 't(1;12)(q25;p13) / ', 'TEL', 'ARG', '15729383', '110', '', '', '', '', '', '', '', '', '', ' The TEL/ARG oncogene is formed by t(1;12)(q25;p13) reciprocal translocation and is associated with human leukemia.     ///    \"To determine the molecular mechanisms, a series of mutants of TEL/ARG were generated, and each cDNA was expressed in Ba/F3 or CHO cells. \"    ///    \"When expressed in CHO cells, wild-type TEL/ARG induced the formation of fillopodia, in a fashion dependent on the C-terminal portion and intact kinase activity. \"    ///    We have previously demonstrated that the expression of TEL/ARG in Ba/F3 cells results in prolonged viability and hyper-responsiveness to IL-3.     ///    \"Thus, these results suggest several critical domains within TEL/ARG necessary for function, and indicate that the signaling pathways necessary for viability, growth factor hyper-responsiveness and cytoskeletal reorganization are likely to be separate.. \"    ///    Signal transduction and cellular functions of the TEL/ARG oncoprotein.. '), ('3392', 'MYC_BCL2', 't(6;14;18)(p25;q32;q21) / t(14;18)(q32;q21) / t(8;22) / ', 'MYC', 'BCL2', '23995111', '110', 'leukemia\r\r', '', '', 'Oncogene', '', '', '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.. \"'), ('3393', 'MALT1_API2', 't(1;14) / ', 'MALT1', 'API2', '19860212', '110', 'MALT lymphoma;B cell lymphoma;gastric cancer;lymphoma\r\r', '', '', '', '', '', '', '', '', 't (11;18)/API2-MALT1 and t(1;14)/IGH-BCL10 are specifically associated with the gastric MALT lymphoma entity, and the oncogenic products of these translocations have been shown to target a common molecular pathway, i.e., the nuclear factor-kappaB pathway. '), ('3394', 'MLL_MEN', 't(11;19) / 19p13.1 / ', 'MLL', 'MEN', '7718874', '110', 'myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The MLL/MEN fusion was consistent in all three cases of the t(11;19)(q23;p13.1)-carrying leukemia examined by RNA-based polymerase chain reaction.     ///    Cloning of several species of MLL/MEN chimeric cDNAs in myeloid leukemia with t(11;19)(q23;p13.1) translocation..     ///    The MLL/MEN fusion transcripts of 8.0 kb were detected in leukemic cells of two cases with the translocation.     ///    \"Although the MLL gene was alternatively spliced, the fusion protein should contain an N-terminal half of the MLL, including AT hook motifs, that is fused to the MEN protein with a lysine-rich sequence, suggesting that the MLL/MEN fusion protein could be a chimeric transcription factor. \"'), ('3395', 'RUNX1T1_RUNX1', 't(8;11;21)(q22;q24;q22) / ', 'RUNX1T1', 'RUNX1', '25318951', '110', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'A new complex translocation t(8;11;21)(q22;q24;q22) in acute myeloid leukemia with RUNX1/RUNX1T1.. '), ('3396', 'MYH11_CBFB', 'inv(16) / inv(16)  / ', 'MYH11', 'CBFB', '23236551', '110', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Although CBFB-MYH11 mRNA was detected in RT-PCR, the conventional cytogenetic analysis failed to reveal inv(16).     ///    Acute myeloid leukemia with cryptic CBFB-MYH11 type D.. '), ('3397', 'BCR_ABL1', 'p35;q24 / ', 'BCR', 'ABL1', '25899399', '110', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'A novel e8a2 BCR-ABL1 fusion with insertion of MAST2 exon 2 in a four-way translocation t (1;17;9;22) (p35;q24;q44;q11) in a patient with chronic myeloid leukemia.. ');
