RUNX1--ETV6

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RUNX1 ETV6

COSMIC

The fusion gene pair RUNX1--ETV6 information is not available in COSMIC database.

ChimerKB

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The fusion gene pair RUNX1--ETV6 information is available in CHIMERKB (CHIMERDB 3.0) database.

Fusion_pair5'Gene Junction (Chr/Position/Strand)3'Gene Junction (Chr/Position/Strand)Breakpoint_TypeGenome_BuildDiseaseValidationPMIDGene TypeSource
RUNX1_ETV6-/-/ -/-/ - hg18 acute lymphoblastic leukemia - 7761424 Oncogene; Transcription_Factor OMIM
RUNX1_ETV6-/-/ -/-/ - hg18 acute lymphocytic leukemia - 12124316 Oncogene; Transcription_Factor OMIM

ChimerPUB

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The fusion gene pair RUNX1--ETV6 information is available in CHIMERPUB (CHIMERDB 3.0) database.

Fusion_pairTranslocationPMIDDiseaseValidationGene TypeSentence_highlight
RUNX1_ETV6t(12;21) / 16213362acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia FISH - The t(12;21) produces the gene fusion ETV6/RUNX1 and is a frequent rearrangement in childhood ALL, associated with a good prognosis. /// "Seventy-one bone marrow samples were analyzed with FISH, using ETV6/RUNX1 DNA probes. " /// "Six showed ETV6/RUNX1 fusion and 17, with extra RUNX1 copies, presented an additional chromosome 21 or dup(21)(q22). "
RUNX1_ETV6t(14;20) / t(7;11)(q35;q24) / t(1;14)(p32;q32) / t(7;11) / 16154840acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia FISH - Finally, we also observed cryptic insertions of AF4 and ETV6 in combination with complex rearrangements, leading to MLL/AF4 and ETV6/RUNX1 gene fusions.
RUNX1_ETV6t(12;21) / t(3;12) / t(12;21) / 20049174acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia FISH - Finally, our findings confirm that additional or secondary genetic changes are commonly encountered in pediatric B-lineage ALL with ETV6-RUNX1 gene fusion which is envisaged to play a pivotal role in disease progression.. /// This translocation leads ETV6-RUNX1 (previously TEL-AML1) fusion gene. /// 16 patients (28%) had ETV6-RUNX1 rearrangement. /// ETV6-RUNX1 Rearrangement in Tunisian Pediatric B-Lineage Acute Lymphoblastic Leukemia.. /// Seven patients without ETV6-RUNX1 rearrangement showed extra signals of the RUNX1 gene.
RUNX1_ETV6- 15162063acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia FISH - It was demonstrated that ETV6/RUNX1 gene fusion was a frequent event (0.59-1.84/100 cells) in peripheral blood lymphocytes from normal individuals and the ALL patients who underwent chemotherapy showed significantly (P = 0.0043) increased frequencies (0.62-3.96/100 cells) of the rearrangement when compared with the control groups (patients at diagnosis and healthy subjects). /// "Twelve ALL patients (aged 5 to 16 years) and twelve healthy subjects (aged 18 to 22 years) were studied for the presence of ETV6/RUNX1 (TEL/AML1) translocations, which were detected by FISH (fluorescence in situ hybridization). " /// Analysis of ETV6/RUNX1 fusions for evaluating the late effects of cancer therapy in ALL (acute lymphoblastic leukemia) cured patients.. /// "Therefore, increased frequencies of ETV6/RUNX1 fusions in ALL cured patients indicate the influence of previous exposure to anti-cancer drugs, and they may represent an important genetic marker for estimating the risk of relapse, or development of secondary neoplasias.. "
RUNX1_ETV6- 14695996acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia FISH - We therefore propose that the potential of the immunogenotype to diversify depends primarily on the stage of IG/TCR gene configuration of the cell in which the ETV6/RUNX1 gene fusion takes place.. /// " Recent data suggest that late relapses evolve from an ancestral ETV6/RUNX1-positive (also designated TEL/AML1-positive) clone resulting from secondary changes (ETV6 deletion) that differ from those of the initial leukemia and, as a consequence, may also deviate in their clonotypic immunoglobulin/T-cell receptor (IG/TCR) gene rearrangements. " /// Clonal variation of the immunogenotype in relapsed ETV6/RUNX1-positive acute lymphoblastic leukemia indicates subclone formation during early stages of leukemia development..
RUNX1_ETV6- 12800152acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia FISH - Previous studies on concordant acute lymphoblastic leukemia (ALL) in identical twins have identified the leukemia as monoclonal with MLL or ETV6-RUNX1 gene fusion as early or initiating events in utero.
RUNX1_ETV6- 21160474- FISH - Here we have examined this issue in childhood acute lymphoblastic leukaemia in which the ETV6-RUNX1 gene fusion is an early or initiating genetic lesion followed by a modest number of recurrent or 'driver' copy number alterations.
RUNX1_ETV6t(12;21)(p13;q22) / 19594616acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia FISH;PCR;RT-PCR - TEL/AML1 (ETV6/RUNX1) fusion resulting from the translocation t(12;21)(p13;q22) constitutes the most common chimeric fusion gene in initial childhood B-cell precursor (BCP) acute lymphoblastic leukemia (ALL) (19-27%) and has been associated with good prognosis. /// Interphase FISH on TEL/AML1 positive acute lymphoblastic leukemia relapses--analysis of clinical relevance of additional TEL and AML1 copy number changes.. /// "In children with TEL/AML1 positive ALL relapse, additional (a) TEL loss, (b) combined AML1 and der(21) gain, (c) combined TEL loss and AML1 gain as well as (d) the occurrence of a subpopulation with the signal pattern 1T/3A/1TA appear to be related to higher peripheral blast counts (PBCs) at relapse diagnosis (a and d) or a tendency towards the occurrence of a subsequent relapse (b and c) (P-values <0.05). " /// "Three secondary aberrations in TEL/AML1 positive ALL have been suspected to negatively influence outcome: deletion of the second TEL allele (T), gain of the second AML1 allele (A) and duplication of the derivative chromosome 21 (der(21), TA). " /// "In this study, bone marrow samples from 38 children with relapsed TEL/AML1 RT-PCR positive and negative BCP-ALL were analyzed for these mutations by interphase fluorescence in situ hybridization and results were compared with published data. " /// "Our data together with published results on TEL/AML1 positive ALL suggest that frequencies of additional TEL and AML1 mutations are, with the exception of loss of untranslocated TEL, higher in first relapses than in initial disease. "
RUNX1_ETV6t(12;21)(p13;q22) / t(9;22)(q34;q11) / 24816234acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia FISH - Primary established genetic abnormalities in B-cell precursor acute lymphoblastic leukemia include high hyperdiploidy (51-65 chromosomes), the translocations t(12;21)(p13;q22)/ETV6-RUNX1 fusion and t(9;22)(q34;q11)/BCR-ABL1 fusion, MLL rearrangements and intrachromosomal amplification of chromosome 21.
RUNX1_ETV6t(12;21)(p13;q22) / 17284366acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia FISH - The procedure was tested with CD10(+) acute lymphoblastic leukemia cell line harboring the t(12;21)(p13;q22) resulting in the ETV6/RUNX1 rearrangement (formerly TEL/AML1), as well as peripheral blood lymphocytes of healthy individuals. /// Automated detection of residual leukemic cells by consecutive immunolabeling for CD10 and fluorescence in situ hybridization for ETV6/RUNX1 rearrangement in childhood acute lymphoblastic leukemia..
RUNX1_ETV6t(12;21) / p13.3;q22 / t(9;22) / 26514535acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia FISH - The highest observed numerical chromosomal alteration was high hyperdiploidy (12.9%) with abnormal karyotypes while abnormal 12p (7.5%) was the highest observed structural abnormality followed by t(12;21)(p13.3;q22) resulting in ETV6/RUNX1 fusion (5.4%) and t(9;22)(q34.1;q11.2) resulting in BCR/ABL1 fusion (4.3%).
RUNX1_ETV6t(12;21) / 16157196acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia FISH - It seems therefore that the prognostic value of the t(12;21) does not vary and that ETV6/RUNX1 rearrangement is an independent indicator of good prognosis.. /// "To determine the cytogenetic and molecular abnormalities associated with the ETV6/RUNX1 rearrangement and the influence of this rearrangement in patients' evolution, we analyzed the molecular cytogenetic profiles of 56 children with this rearrangement and B-cell precursor acute lymphoblastic leukemia. " /// The ETV6/RUNX1 rearrangement is found in 20-30% of children with B-cell precursor acute lymphoblastic leukemia and is associated with a good outcome.
RUNX1_ETV6t(9;22) / t(1;19) / 18838613acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia FISH - Patients with high hyperdiploidy, ETV6-RUNX1, or 11q23/MLL rearrangements had low rates of deletion (11%, 15%, 13%), whereas patients with t(9;22), t(1;19), TLX3, or TLX1 rearrangements had higher frequencies (61%, 42%, 78%, and 89%).
RUNX1_ETV6- 18181181acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia FISH - We have retrospectively analyzed the blood and bone marrow of a child who presented with aplastic anemia 9 months before the development of ETV6-RUNX1 fusion gene positive ALL. /// "Retrospective analysis of aplastic phase bone marrow showed that the ETV6-RUNX1 fusion was present along with all of the additional genetic changes assessed, albeit subclonal to ETV6-RUNX1. "
RUNX1_ETV6t(12;21)(p13;q22) / t(12;21) / 18241254- FISH - The prognostic impact of t(12;21)(p13;q22) [ETV6/RUNX1 fusion] in paediatric acute lymphoblastic leukaemia (ALL) has been extensively debated, particularly with regard to the frequency of late relapses and appropriate treatment regimens. /// Outcome of ETV6/RUNX1-positive childhood acute lymphoblastic leukaemia in the NOPHO-ALL-1992 protocol: frequent late relapses but good overall survival.. /// "We have retrospectively collected 679 ALLs with known ETV6/RUNX1 status, as ascertained by fluorescence in situ hybridization or reverse-transcription polymerase chain reaction, treated according to the Nordic Society of Paediatric Haematology and Oncology -ALL-1992 protocol. " /// "As yet, there is no reliable plateau in the EFS curve, a fact that raises the question as to when the prognostic ramifications of ALLs harbouring ETV6/RUNX1 should be evaluated.. "
RUNX1_ETV6t(9;22)(q34;q11) / t(4;11)(q21;q23) / t(12;21)(p13;q22) / 20701601- FISH - The abnormalities with the most significant impact for treatment and management of BCP-ALL are t(9;22)(q34;q11)/BCR-ABL1, t(4;11)(q21;q23)/MLL-AFF1 and near-haploidy/low hypodiploidy for high risk stratification and, to a lesser extent, t(12;21)(p13;q22)/ETV6-RUNX1 and high hyperdiploidy for good risk management.
RUNX1_ETV6t(9;22) / 24255623acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia FISH - Intrachromosomal amplification of chromosome 21 (iAMP21) detected by ETV6/RUNX1 FISH screening in childhood acute lymphoblastic leukemia: a case report..
RUNX1_ETV6- 21549623acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia FISH - We performed a comprehensive study using FISH, G-banding and IHC to identify PAX5 deletion and expression in 102 CD19+ clinical B-ALL cases (79 children and 33 adults) and investigated its relationship with common cytogenetic changes including BCR-ABL1, ETV6-RUNX1 and MLL rearrangements, and CDKN2A deletion.
RUNX1_ETV6t(12;21) / 24740533leukemia FISH;PCR - False positivity of ETV6/RUNX1 detected by FISH in healthy newborns and adults.. /// Reverse-transcriptase PCR screening may indicate presence of ETV6-RUNX1 transcripts in random cord blood samples.
RUNX1_ETV6- 19167608acute myeloid leukemia;acute lymphoblastic leukemia;chronic myeloid leukemia FISH - Bone marrow and/or peripheral blood samples were characterized using conventional G-banding techniques and fluorescent in situ hybridization (FISH) techniques with commercially available RUNX1/RUNX1T1 or ETV6/RUNX1 dual-color fusion probes. /// "Eight of these had, by interphase FISH, RUNX1/RUNX1T1 or RUNX1/ETV6 fusion, and 19 had three or more RUNX1 signals not related to fusion with RUNX1T1 or ETV6 gene. "
RUNX1_ETV6- 24790906- FISH - Multiprobe FISH detected the chromosomal aberrations identified by G-banding, as well as additional aberrations in 6 of 30 (20.0%) cases, which included ETV6/RUNX1 translocation, p16 deletion, TP53 deletion, and IGH break-apart.
RUNX1_ETV6- 23190578acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia FISH - Eight common translocations and rearrangements, including ETV6-RUNX1, TCF3-PBX1, BCR-ABL1, ETV6, TCF3, MLL, IGH@, and PAX5, were tested for using dual-color DNA probes. /// ETV6-RUNX1 was the most frequent translocation detected in 11 children (34.4%). /// ETV6-RUNX1 fusion and ETV6 split-apart rearrangements were not visible by cytogenetics. /// All patients with the ETV6-RUNX1 fusion were also identified by split signals for ETV6.
RUNX1_ETV6- 26625756acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia FISH - Comparisons between ETV6-RUNX1 positive and negative groups were accomplished using chi-square test or Fisher's exact test. /// "Clinical parameters and ETV6-RUNX1 status (using FISH technique) of pALL patients attending the Pediatric Oncology Clinic, King Abdulaziz Medical City, Riyadh from 2006 to 2011 were studied. " /// Low Frequency of ETV6-RUNX1 (t 12. /// None of the ETV6-RUNX11 patients had ?? 5% blasts (no remission) at day 14 as compared with 9% in the ETV6-RUNX1 negative group (Figure 1). /// Different geographical locations have been reported to have different frequencies of ETV6-RUNX1 ranging from 10% in Southeast Asia to 30% in Australia. /// All ETV6-RUNX1 patients (100%) were of B-cell lineage and 80% (4/5) were in the 3-7 year age group. /// "Frequency of ETV6-RUNX1 positive patients (less than 10%) in our pALL patients is much lower than reported for most European countries, North America, Australia and Japan while it is in accordance with ETV6-RUNX1 frequencies from Egypt (11.6%), Pakistan (10%), Spain (2%) and India (5-7%). " /// "Therefore, the objective of this study was to establish the ETV6-RUNX1 status of Saudi Arabian pALL patients and its association with clinical parameters and early remission. " /// "This shows ethnic differences in genetics of pALL as well as higher frequencies of ETV6-RUNX1 positive pALL mostly in more industrialized countries, probably due to some industrial pollutants or westernized lifestyle.. " /// Only 5 (9.3%) patients were ETV6-RUNX1 positive while 49(80.7%) were ETV6-RUNX1 negative. /// ETV6-RUNX1 positive pALL patients have good prognosis as compared to ETV6-RUNX1 negative counterparts.
RUNX1_ETV6- 26781410acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia FISH - The clinical data of 95 children with ETV6/RUNX1-positive ALL who were treated from January 2006 to November 2012 were analyzed retrospectively, including clinical features, results of karyotype analysis, and results of FISH. /// " To investigate the application of multiplex ligation-dependent probe amplification (MLPA) in the detection of copy number variations (CNVs) in pediatric ETV6/RUNX1-positive acute lymphoblastic leukemia (ALL), to compare this method with conventional karyotype analysis and fluorescence in situ hybridization (FISH), and to evaluate the value of MLPA. " /// [Detection of copy number variations in pediatric ETV6/RUNX1-positive acute lymphoblastic leukemia with multiplex ligation-dependent probe amplification].. /// MLPA is an efficient and convenient method to detect CNVs in children with ETV6/RUNX1-positive ALL..
RUNX1_ETV6- 18617057acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia FISH - The most common abnormality was the p16 deletion (22.8%), followed by MLL and ETV6/RUNX1 rearrangements (8.7%), and the BCR/ABL fusion was the least frequent (2.7%). /// " We evaluated the prevalence of BCR/ABL, MLL, and ETV6/RUNX1 rearrangements as well as CDKN2A (alias p16) deletion in a group of Mexican children with acute lymphoblastic leukemia (ALL) to determine whether the changes coexist, and to compare the incidences found with other reports in the literature. " /// "In addition, we confirmed the low frequency of the ETV6/RUNX1 fusion observed in Hispanics. "
RUNX1_ETV6- 15704129acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia FISH - This study was undertaken in order to compare the interphase and metaphase cytogenetics of 28 patients with ETV6/RUNX1 positive acute lymphoblastic leukemia, at diagnosis and relapse. /// ETV6/RUNX1 fusion at diagnosis and relapse: some prognostic indications.. /// The significant fusion positive population heterogeneity revealed at interphase by a commercial probe for ETV6/RUNX1 fusion has not been described before.
RUNX1_ETV6- 17972957T ALL FISH;PCR - We describe four cases of childhood B-cell progenitor acute lymphoblastic leukaemia (BCP-ALL) and one of T-cell (T-ALL) with unexpected numbers of interphase signals for ETV6 with an ETV6-RUNX1 fusion probe. /// We have also shown breakpoints in intron 2 of ETV6 in two cases of insertion with ETV6-RUNX1 fusion..
RUNX1_ETV6- 17011991acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia FISH - We report two new cases of childhood ALL, without a ETV6/RUNX1 (alias TEL/AML1) rearrangement, showing high-level amplification of the AML1 gene detected by fluorescence in situ hybridization and comparative genomic hybridization analysis.
RUNX1_ETV6del(9p) / del(12p) / t(12;21) / 17690704acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia FISH - Seventeen ETV6/RUNX1-positive pediatric acute lymphoblastic leukemias were investigated by high-resolution array-based comparative genomic hybridization (array CGH), gene expression profiling and fluorescence in situ hybridization. /// Combined high-resolution array-based comparative genomic hybridization and expression profiling of ETV6/RUNX1-positive acute lymphoblastic leukemias reveal a high incidence of cryptic Xq duplications and identify several putative target genes within the commonly gained region..
RUNX1_ETV6- 23210573acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia FISH;PCR - BCR-ABL1, FUS-ERG, MLL-AF4, ETV6-RUNX1, E2A-PBX1, dupMLL, MLL-AF10, MLL-ENL, SET-NUP214 and SIL-TAL1 were detected in 36 (14.06%), 14 (5.47%), 14 (5.47%), four (1.56%), four (1.56%), five (1.95%), four (1.56%), two (0.78%), two (0.78%) and five patients (1.95%), respectively.
RUNX1_ETV6- 21482711plasmocytoma FISH - Clonal origins of relapse in ETV6-RUNX1 acute lymphoblastic leukemia.. /// "These data indicate subclonal diversity at diagnosis, providing a variable basis for intraclonal origins of relapse and extended periods (years) of dormancy, possibly by quiescence, for stem cells in ETV6-RUNX1(+) acute lymphoblastic leukemia.. " /// " B-cell precursor childhood acute lymphoblastic leukemia with ETV6-RUNX1 (TEL-AML1) fusion has an overall good prognosis, but relapses occur, usually after cessation of treatment and occasionally many years later. "
RUNX1_ETV6- 19998443acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia FISH - This study describes the cytogenetics of 33 children with ETV6-RUNX1 positive acute lymphoblastic leukemia (ALL) who had been in continuous complete remission for a minimum of 8.8 years [median event-free survival (EFS) 10.9 years]. /// Cytogenetics of long-term survivors of ETV6-RUNX1 fusion positive acute lymphoblastic leukemia..
RUNX1_ETV6- 23171811acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia; FISH;PCR;RT-PCR - The ETV6/ABL1 fusion was also confirmed by fluorescence in situ hybridization using a mixture of BCR/ABL1 and ETV6/RUNX1 probes.
RUNX1_ETV6t(12;21)(p13;q22) / 8p21.3 / 11p11.2 / 22076464acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - We performed a genome-wide association study of 355?750 single-nucleotide polymorphisms (SNPs) in 474 controls and 419 childhood ALL cases characterized by a t(12;21)(p13;q22) - the most common chromosomal translocation observed in childhood ALL - which leads to an ETV6-RUNX1 gene fusion.
RUNX1_ETV6t(12;21) / 20190817acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - Approximately 25% of childhood B-cell precursor acute lymphoblastic leukemia have an ETV6/RUNX1 (E/R) gene fusion that results from a t(12;21). /// ETV6/RUNX1 abrogates mitotic checkpoint function and targets its key player MAD2L1..
RUNX1_ETV6t(12;21) / 22094587acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - The ETV6/RUNX1 (E/R) gene fusion is generated by the t(12;21) and found in approximately 25% of childhood B-cell precursor acute lymphoblastic leukemia. /// Silencing of ETV6/RUNX1 abrogates PI3K/AKT/mTOR signaling and impairs reconstitution of leukemia in xenografts..
RUNX1_ETV6t(12;21) / t(12;21) / 9p21.3 / 12p13.2 / 19665068acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - By contrast, the t(12;21) ETV6-RUNX1 fusion gene is typically detected in children older than 2 years. /// ETV6-RUNX1 fusion gene and additional genetic changes in infant leukemia: a genome-wide analysis.. /// "In a series of Brazilian infant leukemia cases, however, four younger cases harbored ETV6-RUNX1, at ages 2, 3, 5, and 7 months. "
RUNX1_ETV6t(12;21) / 22404039- - - The chromosomal translocation t(12;21) resulting in the ETV6/RUNX1 fusion gene is the most frequent structural cytogenetic abnormality among patients with childhood acute lymphoblastic leukaemia (ALL). /// We investigated 62 ETV6/RUNX1-positive childhood ALL patients by single nucleotide polymorphism array to explore acquired copy number alterations (CNAs) at diagnosis. /// "The present study sheds further light on the genetic diversity of ETV6/RUNX1-positive childhood ALL, which may be important for understanding poor responses among this otherwise highly curable subset of ALL and lead to novel targeted treatment strategies.. " /// Genome-wide analysis of cytogenetic aberrations in ETV6/RUNX1-positive childhood acute lymphoblastic leukaemia..
RUNX1_ETV6t(12;21) / 26580398acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - Childhood acute lymphoblastic leukemia (ALL) with t(12;21), which results in expression of the ETV6/RUNX1 fusion gene, is the most common chromosomal lesion in precursor-B (pre-B) ALL. /// A Double Negative Loop Comprising ETV6/RUNX1 and MIR181A1 Contributes to Differentiation Block in t(12;21)-Positive Acute Lymphoblastic Leukemia.. /// "Taken together, our results demonstrate that MIR181A1 and ETV6/RUNX1 regulate each other, and we propose that a double negative loop involving MIR181A1 and ETV6/RUNX1 may contribute to ETV6/RUNX1-driven arrest of differentiation in pre-B ALL. " /// We identified 17 microRNAs that were downregulated in ETV6/RUNX1+ compared with ETV6/RUNX1- clinical samples. /// "Using chromatin immunoprecipitation, we demonstrated that ETV6/RUNX1 directly binds the regulatory region of MIR181A1, and knockdown of ETV6/RUNX1 increased miR-181a-1 level. " /// "We further showed that miR-181a (functional counterpart of miR-181a-1) could target ETV6/RUNX1 and cause a reduction in the level of the oncoprotein ETV6/RUNX1, cell growth arrest, an increase in apoptosis, and induction of cell differentiation in ETV6/RUNX1+ cell line. "
RUNX1_ETV6t(12;21)(p13;q22) / 26852652acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - We have identified leukemia fusion gene ETV6/RUNX1 mRNA to be highly enriched in immunoprecipitated fraction of endogenous IGF2BP1 from a model cell line REH and t(12;21)(p13;q22)-positive ALL samples. /// "Furthermore, downregulation of IGF2BP1 by two-fold has resulted in a corresponding decrease of ETV6/RUNX1 mRNA validating this transcript as a target of IGF2BP1 protein in t(12;21)(p13;q22)-positive ALL. " /// ETV6/RUNX1 transcript is a target of RNA-binding protein IGF2BP1 in t(12;21)(p13;q22)-positive acute lymphoblastic leukemia.. /// These data infer that IGF2BP1 is a potent regulator of ETV6/RUNX1 mRNA stability and potentially link this evolutionary-highly conserved protein to cell transformation events in ETV6/RUNX1-mediated leukemogenesis of t(12;21)(p13;q22)-positive ALL.
RUNX1_ETV6- 25388957acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - Studies on twins with concordant acute lymphoblastic leukemia (ALL) have revealed that ETV6-RUNX1 gene fusion is a common, prenatal genetic event with other driver aberrations occurring subclonally and probably postnatally. /// We reasoned that shared clonal rearrangements of IG or TCR genes by concordant ALL in twins would be informative about the fetal cell type in which clonal advantage is elicited by ETV6-RUNX1. /// The fetal cell type that is transformed by ETV6-RUNX1 is not identified by such studies or by the analysis of early B-cell lineage phenotype of derived progeny. /// Clonal origins of ETV6-RUNX1? acute lymphoblastic leukemia: studies in monozygotic twins.. /// Our data suggest that the pre-leukemic initiating function of ETV6-RUNX1 fusion is associated with clonal expansion early in the fetal B-cell lineage.
RUNX1_ETV6- 25273558acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - We show that the MYC and JunD transcriptional circuits are specifically deregulated after ETV6-RUNX1 and TCF3-PBX1 gene fusions, respectively. /// "Using as models three different chromosomal translocations-ETV6-RUNX1 (TEL-AML1), BCR-ABL1, and TCF3-PBX1 (E2A-PBX1)-frequently found in precursor-B-cell acute lymphoblastic leukemia (preB-ALL), we develop an approach to extract perturbed molecular interactions from gene expression changes. " /// "Through a novel approach combining gene expression and interactome data analysis, we provide new insight into TCF3-PBX1 and ETV6-RUNX1 acute lymphoblastic leukemia. "
RUNX1_ETV6- 26327566acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - The ETV6/RUNX1 gene fusion defines the largest genetic subgroup of childhood ALL with overall rapid treatment response. /// Genetic alterations in glucocorticoid signaling pathway components are associated with adverse prognosis in children with relapsed ETV6/RUNX1-positive acute lymphoblastic leukemia..
RUNX1_ETV6- 21900195acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - ETV6-RUNX1 gene fusion is usually an early, prenatal event in childhood acute lymphoblastic leukemia (ALL). /// "Here, we show that ETV6-RUNX1 directly binds the EPOR promoter and that expression of ETV6-RUNX1 alone in normal pre-B cells is sufficient to activate EPOR transcription. " /// "EPOR mRNA is selectively and ectopically expressed in ETV6-RUNX1(+) ALL, but the presence of a functional EPOR on the cell surface and its role in leukemogenesis driven by ETV6-RUNX1 remains to be identified. " /// These data support the contention that ETV6-RUNX1 directly activates ectopic expression of a functional EPOR and provides cell survival signals that may contribute critically to persistence of covert premalignant clones in children.. /// ETV6-RUNX1 promotes survival of early B lineage progenitor cells via a dysregulated erythropoietin receptor..
RUNX1_ETV6t(12;21) / t(12;21)(p13;q22) / t(12;21) / 12p11.21 / 12p13.2 / 12p12.3 / 23077088acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - 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.
RUNX1_ETV6- 24413735acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - 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..
RUNX1_ETV6t(9;22) / t(1;19) / t(4;11) / t(12;21) / t(12;21) / t(4;11) / 20930648acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia PCR;RT-PCR - 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. "
RUNX1_ETV6t(12;21)(p13;q22) / t(12;21) / t(12;21) / 17285576acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - 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..
RUNX1_ETV6t(12;21) / t(6;11) / 1p23;q13 / 18328947acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - 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.. "
RUNX1_ETV6t(12;21)(p13;q22) / t(12;21) / t(12;21) / 19264230acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - 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..
RUNX1_ETV6t(12;21)(p13;q22) / t(12;21) / 16965388- - - 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.
RUNX1_ETV6del(6q) / 20513752acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - 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. "
RUNX1_ETV6t(12;21) / t(1;19) / 22005784acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia - - 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).
RUNX1_ETV6t(12;21)(p13;q22) / 22156147acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - 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..
RUNX1_ETV6t(12;21) / 25355294acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - 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.
RUNX1_ETV6- 22528566acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia - - 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. "
RUNX1_ETV6t(1;19) / t(12;21) / t(8;21) / t(8;14) / t(9;22) / t(10;11) / t(15;17) / inv(16) / 15843827hematologic 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].
RUNX1_ETV6t(12;21) / 21444869acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - 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.
RUNX1_ETV6t(12;21) (p13;q22) / t(12;21) / 21173572T ALL;leukemia - - In B-ALL KIBRA methylation was associated with ETV6/RUNX1 [t(12;21) (p13;q22)] chromosomal translocation (p = 0.0082) phenotype, suggesting that KIBRA may play an important role in t(12;21) leukemogenesis.
RUNX1_ETV6- 22994759acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia FISH;PCR;RT-PCR - Survival of patients with fusion gene ETV6-RUNX1 was better when compared to patients harboring other genes. /// "19), ETV6-RUNX1 (t 12. "
RUNX1_ETV6t(12;21) / 19710699- PCR - Characterizing chromosomal break points of t(12;21)[ETV6-RUNX1]-positive leukaemia using multiple tiling PCR on whole-genome-amplified DNA..
RUNX1_ETV6t(12;21) / t(12;21)(p13;q22) / 20713965acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - t(12;21)(p13;q22)[ETV6-RUNX1] is the most common chromosomal translocation in childhood acute lymphoblastic leukemia, and it can often be backtracked to Guthrie cards supporting prenatal initiation and high levels of circulating t(12;21)-positive cells at birth. /// Prevalence of t(12;21)[ETV6-RUNX1]-positive cells in healthy neonates..
RUNX1_ETV6t(12;21)(p13;q22) / 18767146acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia PCR;RT-PCR - The ETV6-RUNX1 fusion is the molecular consequence of the t(12;21)(p13;q22) seen in approximately 25% of children with acute lymphoblastic leukemia (ALL). /// This study identifies deletions of TBL1XR1 as a recurrent abnormality in ETV6-RUNX1 positive ALL. /// The complex genomic profile of ETV6-RUNX1 positive acute lymphoblastic leukemia highlights a recurrent deletion of TBL1XR1..
RUNX1_ETV6t(9;22) / 20409752- - - Multivariate analysis incorporating age, white-cell count, and treatment parameters showed that six cytogenetic abnormalities (ETV6-RUNX1, high hyperdiploidy, iAMP21, t(9;22), loss of 13q, and abnormal 17p) retained their significance for effect on relapse risk. /// "Two chromosomal abnormalities were associated with a significantly better outcome (ETV6-RUNX1, hazard ratio [HR] 0.51, 95% CI 0.38-0.70 and high hyperdiploidy, 0.60, 0.47-0.78), whereas five abnormalities were associated with an increased risk of relapse (intrachromosomal amplification of chromosome 21 [iAMP21], 6.04, 3.90-9.35. "
RUNX1_ETV6t(12;21) / t(15;17) / 20211010acute lymphoblastic leukemia;myeloid leukemia;lymphoblastic leukemia;leukemia - - This study revealed that e.g., the t(12;21) [ETV6-RUNX1] subtype of ALL and the t(15;17) [PML-RARA] subtype of AML had transcriptional programs similar to those in normal Pro-B cells and promyelocytes, respectively.
RUNX1_ETV6t(4;11) / t(12;21) / 21172890acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - they were less likely to have the t(12;21)(ETV6-RUNX1) compared with younger patients.
RUNX1_ETV6t(12;21) (p13;q22) / t(9;22) (q34;q11) / 22382891acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia - - The pediatric patients had higher incidence of hyperdiploidy and t(12;21) (p13;q22)/ETV6-RUNX1 than adults (P<0.0001). /// "In comparison with Western cohorts, the incidence of t(9;22) (q34;q11)/BCR-ABL (14.60%) in B-ALL and HOX11 expression in T-ALL (25.24%) seemed to be much higher in our group, while the incidence of t(12;21) (p13;q22)/ETV6-RUNX1 (15.34%) seemed to be lower in Chinese pediatric patients. "
RUNX1_ETV6t(12;21) / 23722552acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia PCR - Focusing on samples carrying the t(12;21) ETV6-RUNX1 fusion, we identified 119 subtype-specific high-confidence marker CpG-loci.
RUNX1_ETV6t(12;21)(p13;q22) / 19679565acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - Acute lymphoblastic leukemia (ALL) is the most common childhood malignancy, with high hyperdiploidy [51-67 chromosomes] and the t(12;21)(p13;q22) [ETV6/RUNX1 fusion] representing the most frequent abnormalities. /// We performed genome-wide methylation profiling using bacterial artificial chromosome arrays and promoter-specific analyses of high hyperdiploid and ETV6/RUNX1-positive ALLs.
RUNX1_ETV6p11-13;q11 / 26237075acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - In this study, genome-wide methylation analysis, using the Illumina Infinium HumanMethylation450 BeadChip platform, was carried out on 52 diagnostic patient samples from 4 genetic subtypes [ETV6-RUNX1, high hyperdiploidy (HeH), TCF3-PBX1 and dic(9;20)(p11-13;q11)] in a 1:1 case-control design with patients who went on to relapse (as cases) and patients achieving long-term remission (as controls). /// We observed significant enrichment of the neuroactive ligand-receptor interaction pathway in TCF3-PBX1 as well as an enrichment of genes involved in immunity and infection pathways in ETV6-RUNX1 subtype. /// Our data revealed that ETV6-RUNX1 and dic(9;20) subtypes were mostly associated with hypermethylation.
RUNX1_ETV6t(12;21) / t(1;19) / 21152005acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - Folylpolyglutamate synthetase (FPGS) activity was higher in B vs T lineage ALL (p<0.005), MTX influx and FPGS activity were higher in hyperdiploid vs non-hyperdiploid ALL (p<0.03), MTX influx and FPGS activity were lower in the t(12;21) (ETV6-RUNX1) subtype (p<0.05), and the ratio of FPGS to ?-glutamyl hydrolase (GGH) activity was lower in the t(1;19) (TCF3-PBX1) subtype (p<0.03) than other genetic subtypes.
RUNX1_ETV6- 26269126acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - Its most common chromosomal aberration is the ETV6-RUNX1 fusion gene, with ~25% of ETV6-RUNX1 patients also carrying PAX5 alterations. /// Powerful synergies exists in our model suggesting STAT pathway activation and mutation of Trp53 are potent drivers of B-ALL in the context of Etv6-RUNX1;Pax5(+/-).. /// Somatic drivers of B-ALL in a model of ETV6-RUNX1. /// We have recreated this mutation background by inter-crossing Etv6-RUNX1 (Etv6 (RUNX1-SB)) and Pax5(+/-) mice and performed an in vivo analysis to find driver genes using Sleeping Beauty transposon-mediated mutagenesis and also exome sequencing. /// Combination of Etv6-RUNX1 and Pax5(+/-) alleles generated a transplantable B220 + CD19+ B-ALL with a significant disease incidence.
RUNX1_ETV6- 26520622acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - Further, for the first time we demonstrate differential histone H4 acetylation in molecular subclasses of BCP-ALL including cases with ETV6-RUNX1 fusion gene or PAX5 deletion or deletions in genes linked to B cell development. /// Preserved global histone H4 acetylation linked to ETV6-RUNX1 fusion and PAX5 deletions is associated with favorable outcome in pediatric B-cell progenitor acute lymphoblastic leukemia..
RUNX1_ETV6- 22976839acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia; - - Logistic regression was used to evaluate the association of polymorphisms with cases and controls, with age and somatic fusion genes (MLL-r and ETV6-RUNX1) as covariables.
RUNX1_ETV6- 26856288acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - Frequency and clinical impact of ETV6/RUNX1, AF4-MLL, and BCR/ABL fusion genes on features of acute lymphoblastic leukemia at presentation.. /// "Abnormal genes detected were BCR/ABL1 major transcript in 5 (12.5%), ETV6/RUNX1 in 2 (5.0%), MLL/AF4 none and none of the patients had more than one fusion gene. " /// "Three major translocations (ETV6-RUNX1, BCR-ABL, and AF4-MLL) in acute lymphoblastic leukemia (ALL) have been shown to affect treatment outcome. " /// "Presence of fusion the genes BCR/ABL1, ETV6/RUNX1, and MLL/AF4 does not have any impact on the clinical and laboratory features of ALL at presentation.. "
RUNX1_ETV6t(12;21)(p13;q22) / t(12;21) / 21914494acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - Within the B-cell precursor group, t(12;21)(p13;q22) [ETV6/RUNX1] cases (n = 19) showed a much higher frequency of hTERT methylation than high-hyperdiploid (51-61 chromosomes) ALL (n = 44) (63% and 7%, respectively.
RUNX1_ETV6t(4;11) / t(9;11) / t(11;19) / t(12;21) / t(1;19) / 25137060leukemia PCR - We validated GIPFEL for the five most common gene fusions associated with childhood leukemia (MLL-AF4, MLL-AF9, MLL-ENL, ETV6-RUNX1, and TCF3-PBX1).
RUNX1_ETV6- 23859904acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - This study assesses whether an ethnic influence has an effect on the frequency of any of the four fusion genes: BCR-ABL1, ETV6-RUNX1, TCF3-PBX1, and MLL-AFF1 found in ALL. /// The low incidence of the ETV6-RUNX1 fusion gene found in Guatemala matches the incidence rates that have been reported in Spain and Indian Romani. /// "Frequency of the ETV6-RUNX1, BCR-ABL1, TCF3-PBX1, and MLL-AFF1 fusion genes in Guatemalan pediatric acute lymphoblastic leukemia patients and their ethnic associations.. " /// and 6 patients (4.5%) were ETV6-RUNX1 positive.
RUNX1_ETV6- 19152679prostate cancer;leukemia - - Using this array, proof of principle was demonstrated by detection of known fusion genes (such as TCF3:PBX1, ETV6:RUNX1, and TMPRSS2:ERG) from all six positive controls consisting of leukemia cell lines and prostate cancer biopsies.
RUNX1_ETV6- 20620598acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - Across the four countries, the ETV6-RUNX1 (TEL-AML1) fusion gene was present in only 5% of cases. /// " An international project was conducted to identify the common acute lymphoblastic leukemia (ALL)-specific fusion genes (ETV6-RUNX1,MLL-AF4,TCF3-PBX1, and BCR-ABL1) in developing countries to provide additional prognostic information at diagnosis. "
RUNX1_ETV6t(12;21)(p13;q22) / 24121163- - - The reciprocal translocation t(12;21)(p13;q22), the most common structural genomic alteration in B-cell precursor acute lymphoblastic leukaemia in children, results in a chimeric transcription factor TEL-AML1 (ETV6-RUNX1). /// "In summary, this work for the first time gives a comprehensive insight into how TEL-AML1 expression may directly and indirectly contribute to alter cells to become prone for leukemic transformation. " /// The impact of TEL-AML1 (ETV6-RUNX1) expression in precursor B cells and implications for leukaemia using three different genome-wide screening methods.. /// "By integration of promoter binding identified with chromatin immunoprecipitation (ChIP)-on-chip, gene expression and protein output through microarray technology and stable labelling of amino acids in cell culture, we identified 217 directly and 118 indirectly regulated targets of the TEL-AML1 fusion protein. " /// We identified directly and indirectly regulated target genes utilizing an inducible TEL-AML1 system derived from the murine pro B-cell line BA/F3 and a monoclonal antibody directed against TEL-AML1.
RUNX1_ETV6- 24557455- FISH;PCR;RT-PCR - ETV6/RUNX1 rearrangement identified by RT-PCR without evidence on FISH..
RUNX1_ETV6- 25692130acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - The earliest deaths occurred at months 1, 2, and 3 after diagnosis in patients with MLL, ETV6-RUNX1, and BCR-ABL1 gene rearrangements, respectively. /// "The aims of this multicenter study were to determine the prevalence of the four most common gene rearrangements [ETV6-RUNX1, TCF3-PBX1, BCR-ABL1, and MLL rearrangements] and to explore their relationship with mortality rates during the first year of treatment in ALL children from Mexico City. " /// "ETV6-RUNX1 was detected in 21 (7.4%) patients, TCF3-PBX1 in 20 (7.1%) patients, BCR-ABL1 in 5 (1.8%) patients, and MLL rearrangements in 4 (1.4%) patients. "
RUNX1_ETV6t(2;8) / inv(4)(p16q25) / t(1;7)(q25;q32) / t(5;6)(q21;q21) / 26648836acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia FISH;PCR;RT-PCR - Since December 2002, RT-PCR determinations were systematically carried out for BCR-ABL1, KMT2A-AFF1, ETV6-RUNX1, and TCF3-PBX1 rearrangements in children, adding KMT2A-MLLT3 and KMT2A-MLLT1 in infants.
RUNX1_ETV6- 18455790acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia PCR;RT-PCR - BCR-ABL, ETV6-RUNX1 and E2A-PBX1: prevalence of the most common acute lymphoblastic leukemia fusion genes in Mexican patients.. /// "With regards to the immunophenotype, ETV6-RUNX1 was expressed in both pre-B and T-cell cases, while the presence of E2A-PBX1 and BCR-ABL was associated with the pre-B ALL phenotype. " /// "The ETV6-RUNX1 fusion was found in 7 cases (13.5%), BCR-ABL fusion was detected in 2 cases (3.8%), and 6 patients (11.5%) expressed the chimeric gene E2A-PBX1. "
RUNX1_ETV6t(12;21) / 16627248acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - In this study we compared MRD by quantification of Ig/TCR targets and genomic ETV6-RUNX1 specific sequences.
RUNX1_ETV69p21.3 / 18275435T ALL - - Molecular cytogenetic and array comparative genomic hybridization results enabled the division of B-precursor ALL patients into five groups: high hyperdiploidy, intrachromosomal amplification of 21q, ETV6/RUNX1 rearrangement, others and no CNA.
RUNX1_ETV6- 25982135acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia - - Of those tested, ETV6-RUNX1 translocation was detected in 13.2%, while BCR-ABL1 translocation and MLL gene rearrangements were seen in 7.3% and 4.6%, respectively.
RUNX1_ETV6t(9;22) / 26085716- - - Some chromosomal abnormalities are associated with more favorable outcomes, such as high hyperdiploidy (51-65 chromosomes) and the ETV6-RUNX1 fusion.
RUNX1_ETV6t(12;21) / 15982341- - - A common profile for children with ALL with an ETV6-RUNX1 fusion, amplification or deletion of ETV6, amplification of RUNX1 or hyperdiploidy with an additional chromosome 21 was identified.
RUNX1_ETV6inv(16) / t(4;11) / t(11;19) / 23091311- PCR - Fifteen fusion transcripts were included: BCR-ABL1, PML-RARA, ZBTB16-RARA, RUNX1-RUNX1T1, CBFB-MYH11, DEK-NUP214, TCF3-PBX1, ETV6-RUNX1, MLL-AFF1, MLL-MLLT4, MLL-MLLT3, MLL-MLLT10, MLL-ELL, MLL-MLLT1, and MLL-MLLT6. /// "Seven cryptic translocations including ETV6-RUNX1, MLL-MLLT3, MLL-MLLT4, and PML-RARA were detected. "
RUNX1_ETV6- 23491079acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - We report on a rare case of a 3-year-old boy with B-cell acute lymphoblastic leukemia (B-ALL), which was characterized simultaneously with two different fusion transcripts: ETV6-RUNX1 and BCR-ABL1 (e1a2). /// Simultaneous occurrence of ETV6-RUNX1 and BCR-ABL1 (e1a2) transcripts in a child with B-cell acute lymphoblastic leukemia.. /// "however, molecular analysis revealed the BCR-ABL1 (p190) and ETV6-RUNX1 transcripts. "
RUNX1_ETV6- 23488608leukemia - - The ETV6/RUNX1 fusion transcript is not detected in RNA isolated from neonatal dried blood spots from children later diagnosed with the corresponding leukemia..
RUNX1_ETV6- 11173830leukemia - - ETV6/RUNX1 (AML1), RUNX1/CBFA2T1 (ETO), ETV6/EVI1, RUNX1/EVI1, ETV6/ABL, BCR/ABL).
RUNX1_ETV6t(12;21) / 16914570acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia PCR - A group of four genes (DKK3, sFRP2, PTEN, and P73) showed specificity for ETV6/RUNX1-positive subset of samples. /// To examine cancer genes undergoing epigenetic inactivation in a set of ETV6/RUNX1-positive acute lymphoblastic leukemias in order to define the CpG island methylator phenotype (CIMP) in the disease and evaluate its relationship with clinical features and outcome. /// Methylation-specific PCR was used to analyze the methylation status of 38 genes involved in cell immortalization and transformation in 54 ETV6/RUNX1-positive samples in comparison with 190 ETV6/RUNX1-negative samples. /// Our results suggest that methylation profile may be a potential new biomarker of risk prediction in ETV6/RUNX1-positive acute lymphoblastic leukemias.. /// ETV6/RUNX1-positive samples had at least one gene methylated in 89% of the cases.
RUNX1_ETV6- 23940019acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia - - The distribution of common genetic abnormalities was similar to that reported from western populations, with 24.6% hyperdiploidy, 21% RUNX1-ETV6 positivity, 4.2% BCR-ABL1 positivity, and 2.5% with MLL gene rearrangement.
RUNX1_ETV6Chr2:88273220-91084234 / Chr12:10383878-16017619 / 18557744down syndrome - - five cases with high-hyperdiploidy (HH) and nine cases with ETV6-RUNX1 positive clones. /// "ALL from non-DS patients showed a similar overall karyotypic stability, although gains of chromosome 21 were infrequent in the ETV6-RUNX1 positive cases. " /// "This overall analysis supports the suggestion that, although constitutional trisomy 21 predisposes to ALL/AMKL, the cytogenetic changes associated with DS-ALL in particular, are most similar to those found in non-DS ETV6-RUNX1 positive ALL. "
RUNX1_ETV6t(12;21)(p13;q22) / 26484077leukemia - - Identification of TEL-AML1 (ETV6-RUNX1) associated DNA and its impact on mRNA and protein output using ChIP, mRNA expression arrays and SILAC.. /// "We here describe in detail the experimental procedure, quality controls and contents of the ChIP, mRNA expression and SILAC datasets associated with the study published by Linka and colleagues in the Blood Cancer Journal [1] utilizing a short term induction of TEL-AML1 in an inducible precursor B-cell line model. " /// To identify direct targets of the fusion protein a short-term induction of TEL-AML1 is needed. /// "Direct as well as secondary indirect effects of the TEL-AML1 fusion protein are commonly recorded by using cell lines and patient samples, often bearing the TEL-AML1 fusion protein for decades. "
RUNX1_ETV6t(12;21) / 23151340acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - Chromosomal Aberrations in ETV6/RUNX1-positive Childhood Acute Lymphoblastic Leukemia using 244K Oligonucleotide Array Comparative Genomic Hybridization.. /// A high resolution 244K array-based Comparative Genomic Hybridization (array-CGH) was used to study eleven ETV6/RUNX1-positive childhood acute lymphoblastic leukemia (ALL) patients.
RUNX1_ETV6- 18767247leukemia - - However, in recent years, different lymphoma/leukemia-associated rearrangements, such as BCR/ABL, IGH/BCL2, ETV6/RUNX1 and MLL duplications, have been detected in healthy individuals.
RUNX1_ETV6- 24319172acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - Cytogenetics provide reliable risk stratification for treatment: high hyperdiploidy and ETV6-RUNX1 are good risk, whereas BCR-ABL1, MLL rearrangements, and hypodiploidy are poor risk.
RUNX1_ETV6- 23675566leukemia PCR - The most known fusions are ETV6-RUNX1 or BCR-ABL1 in B-cell progenitor (BCP)-ALL, and rearrangements of MLL in pediatric ALL and AML.
RUNX1_ETV6t(12;21)(p13;q22) / 23694795acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - TEL-AML1 (ETV6-RUNX1) showing erythrophagocytosis and thrombophagocytosis by leukemic blasts. /// TEL-AML1 (ETV6-RUNX1). /// TEL-AML1 (ETV6-RUNX1): a case report..
RUNX1_ETV6t(9;22) / t(9;22) / 20016538acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - Although long-term outcome in TPOG clinical trials is comparable with results being reported worldwide, the persistent strength of certain prognostic variables and the lower frequencies of favorable outcome predictors, such as ETV6-RUNX1 and hyperdiploidy >50, in Taiwanese children warrant renewed effort to cure a higher proportion of patients while preserving their quality of life..
RUNX1_ETV63p14.2 / 24241490acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - Within this cohort of patients with relapsed ETV6/RUNX1-positive acute lymphoblastic leukemia, the largest analyzed for genome wide DNA copy number alterations to date, alterations were present in every ETV6/RUNX1-positive relapse and a high proportion of them occurred in recurrent overlapping chromosomal regions. /// The clinical heterogeneity among first relapses of childhood ETV6/RUNX1-positive acute lymphoblastic leukemia indicates that further genetic alterations in leukemic cells might affect the course of salvage therapy and be of prognostic relevance. /// Copy number genome alterations are associated with treatment response and outcome in relapsed childhood ETV6/RUNX1-positive acute lymphoblastic leukemia.. /// "To assess the incidence and prognostic relevance of additional copy number alterations at relapse of the disease, we performed whole genome array comparative genomic hybridization of leukemic cell DNA from 51 patients with first ETV6/RUNX1-positive relapse enrolled in and treated according to the relapse trials ALL-REZ of the Berlin-Frankfurt-M?nster Study Group. " /// "Loss of the glucocorticoid receptor gene NR3C1 (5q31.3) was associated with a poor response to induction treatment (P=0.003), possibly accounting for the adverse prognosis of some of the ETV6/RUNX1-positive relapses. "
RUNX1_ETV6- 15193447acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - Forty-one point six percent of patients with normal karyotypes and 66.6% of patients without mitoses presented with the ETV6/RUNX1 rearrangement. /// ETV6/RUNX1 rearrangement in childhood B-precursor acute lymphoblastic leukemia with normal karyotypes or without cytogenetic results.. /// The ETV6/RUNX1 rearrangement (also known as TEL/AML1) was evaluated in 39 children with B-precursor acute lymphoblastic leukemia (ALL) who had a normal karyotype or lack of mitoses. /// One patient without the ETV6/RUNX1 rearrangement and without mitoses showed two extra signals of the RUNX1 gene..
RUNX1_ETV6- 23716539acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - Similarly, the MLL/AF4 rearrangement constantly increased up to the 5(th) decade, while the ETV6/RUNX1 rearrangement disappeared from the age of 30 onwards.
RUNX1_ETV6- 22226019acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia PCR;RT-PCR - the incidence of recurrent rearrangements was: ETV6-RUNX1, 12.9%.
RUNX1_ETV6- 17854676acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - Presenting features of 201 children with acute lymphoblastic leukemia: comparison according to presence or absence of ETV6/RUNX1 rearrangement..
RUNX1_ETV6- 22373549acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia PCR;RT-PCR - Furthermore, real-time quantitative RT-PCR assays showed that the ETV6-RUNX1 mRNA transcript levels decreased during conventional chemotherapy or hematopoietic stem cell transplantation. /// "ETV6-RUNX1 were observed in six cases (3.4%), ETV6-JAK2 in three cases (1.7%), ETV6-ABL1 in two cases (1.1%), and ETV6-ABL2, ETV6-NCOA2, ETV6-SYK, and PAX5-ETV6 each in one case (0.6%). "
RUNX1_ETV6- 19454491acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - In contrast, cases with ETV6/RUNX1 rearrangement had weak CD123 expression.
RUNX1_ETV6- 23911702acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - T-cell acute lymphoblastic leukemia: 31 ?? 8% versus 11 ?? 3%, P=0.003) and kept its significance in multivariate analysis considering sex, age, initial white blood cell count, and minimal residual disease in B-cell-precursor- and T-cell acute lymphoblastic leukemia, and additionally presence of ETV6/RUNX1, MLL/AF4 and BCR/ABL1 rearrangements in B-cell-precursor acute lymphoblastic leukemia (P=0.002 and P=0.025, respectively). /// "In B-cell-precursor acute lymphoblastic leukemia we observed a significant association of a high CD45 expression with older age, high initial white blood cell count, ETV6/RUNX1 negativity, absence of high hyperdiploidy (P<0.0001), MLL/AF4 positivity (P=0.002), BCR/ABL1 positivity (P=0.007), prednisone poor response (P=0.002) and minimal residual disease (P<0.0001). "
RUNX1_ETV6- 17015828acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - The TEL-AML1 (ETV6-RUNX1) fusion in precursor-B (pre-B) ALL is the most common genetic rearrangement in childhood cancer. /// "We demonstrate that TEL-AML1 induces a B cell differentiation arrest, and that leukemia development is associated with loss of TEL expression and elevated Bcl2/Bax ratio. " /// "The TEL-AML1 transgenic zebrafish models human pre-B ALL, identifies the molecular pathways associated with leukemia development, and serves as the foundation for subsequent genetic screens to identify modifiers and leukemia therapeutic targets.. " /// "TEL-AML1 expression in all lineages, but not lymphoid-restricted expression, led to progenitor cell expansion that evolved into oligoclonal B-lineage ALL in 3% of the transgenic zebrafish. " /// TEL-AML1 transgenic zebrafish model of precursor B cell acute lymphoblastic leukemia..
RUNX1_ETV6- 21569007- - - Native ETV6 deletions accompanied by ETV6-RUNX1 rearrangements are associated with a favourable prognosis in childhood acute lymphoblastic leukaemia: a candidate for prognostic marker..
RUNX1_ETV6- 22217495acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia PCR - This study explores the feasibility of demonstrating translocation ETV6-RUNX1 transcripts by reverse transcription polymerase chain reaction in newborns enrolled in a large Danish National Birth Cohort.
RUNX1_ETV6- 19414342- - - Most of the translocations involving RUNX1 lead to the formation of a fusion transcript made of the 5' region of RUNX1, including the RHD, fused to the 3' region of a partner gene, with the exception of RUNX1-ETV6 in which the 3' sequences of RUNX1, including the RHD, are fused to the 5' region of ETV6, including its promotor.
RUNX1_ETV6- 19837270acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - ETV6/RUNX1, formerly TEL/AML1.
RUNX1_ETV6- 24897505- - - To date, this has mainly focused on ALL with MLL or ETV6-RUNX1 fusions, with hyperdiploid ALL remaining less well characterised.
RUNX1_ETV6- 15908956acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - The transformed leukemia-initiating stem cells in both P190 and P210 BCR-ABL1 ALLs had, as in ETV6-RUNX1 ALLs, a committed B progenitor phenotype. /// "In all patients, normal and leukemic repopulating stem cells could successfully be separated prospectively, and notably, the size of the normal HSC compartment in ETV6-RUNX1 and P190 BCR-ABL1 ALLs was found to be unaffected by the expansive leukemic stem cell population.. " /// Primary ETV6-RUNX1 (also known as TEL-AML1) fusions and subsequent leukemic transformations were targeted to committed B-cell progenitors.
RUNX1_ETV6- 24045615acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - In initial and validation analyses, SLX4IP deletions were significantly associated with male gender and ETV6/RUNX1-rearranged ALL (both overall P < 0.0001).
RUNX1_ETV6- 26883104acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - BCR-ABL1, ETV6-RUNX1, E2A-PBX1, and MLL rearrangements (B-NEG ALL) and the differences between children, adolescents/young adults (AYA) and adults, we analyzed 168 B-NEG ALLs by genome-wide technologies.
RUNX1_ETV6- 26185316acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - CD13 was often detected in ETV6-RUNX1 with additional RUNX1 gain (38%) with an even higher frequency in double ETV6-RUNX1 translocation (77%), but was not detected in RUNX1 amplification (0%, P < .05). /// "We compared clinicopathologic factors, including age, sex, WBC count, cerebrospinal fluid (CSF) involvement, immunophenotype, and blast proliferation rate between B-ALL with RUNX1 amplification (10 cases) and B-ALL with ETV6-RUNX1 translocation (67 cases) in childhood B-ALL. " /// "CD7 was often expressed in RUNX1 amplification but not in ETV6-RUNX1 (44% vs 0%, P = .0001) and appeared to correlate with CSF involvement in the former group (3/4 [75%]). " /// Abnormalities of the RUNX1 gene in childhood B-acute lymphoblastic leukemia (B-ALL) are manifested by ETV6-RUNX1 or RUNX1 amplification. /// "Children with RUNX1 amplification were older and more often CSF positive, while those with ETV6-RUNX1 were younger, more frequently had hyperleukocytosis, and had higher blast proliferation rates. "
RUNX1_ETV6- 24648275acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia - - The distribution of common genetic abnormalities reflected a similar percentage of hyperdiploidy (25.6%), but a lower percentage of ETV6-RUNX1 translocation (14.7%) compared to large series reported from Western populations.
RUNX1_ETV6- 23317202acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia FISH;PCR;RT-PCR - The highest relapse-free survival was documented with ETV6-RUNX1 (14.2 months) followed closely by those cases in which no gene was detected (13.100). /// "19), ETV6-RUNX1 (t 12. "
RUNX1_ETV6- 20442364acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia;down syndrome - - We reviewed data from 2811 children with ALL enrolled in Children's Oncology Group P9900, which included prospective testing for the major cytogenetic lesions in childhood ALL: ETV6-RUNX1, TCF3-PBX1, BCR-ABL1, and MLL translocations and trisomies of chromosomes 4 and 10. /// "However, when children with MLL translocations, BCR-ABL1, ETV6-RUNX1, and trisomies 4 and 10 were excluded, the EFS and OS were similar for children with and without DS (EFS 68.0 %+/- 9.3% vs 70.5% +/- 1.9%, P = .817. " /// "Children with DS-ALL had lower rates of the favorable cytogenetic lesions ETV6-RUNX1 (2.5% vs 24%, P < .001) and trisomies 4 and 10 (7.7% vs 24%, P < .001). "
RUNX1_ETV6- 21145270- - - Febrile infections in young children do not frequently induce translocation ETV6-RUNX1..
RUNX1_ETV6t(12;21)(p13;q22) / t(8;12;21) / 26711002acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia - - The t(12;21)(p13;q22) ETV6-RUNX1 gene fusion is one of the most common chromosomal translocation in childhood acute lymphoblastic leukemia (ALL). /// "Interestingly, the three-way translocation, including ETV6-RUNX1, was detected in five patients. " /// Determination of ETV6-RUNX1 genomic breakpoint by next-generation sequencing..
RUNX1_ETV6- 21224468acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia ISH - Approximately 25% of childhood acute lymphoblastic leukemias carry the ETV6/RUNX1 fusion gene. /// ETV6/RUNX1-positive relapses evolve from an ancestral clone and frequently acquire deletions of genes implicated in glucocorticoid signaling.. /// Fluorescence in situ hybridization screening of additional 24 relapsed and 72 nonrelapsed ETV6/RUNX1-positive cases demonstrated that BMF deletions were significantly more common in relapse cases (16.6% vs 2.8%. /// These findings implicate glucocorticoid-associated drug resistance in ETV6/RUNX1-positive relapse pathogenesis and therefore might help to guide future therapies..
RUNX1_ETV6- 16552772acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia ISH - Fluorescence in situ hybridization revealed that eight of the nine B-cell precursor (BCP) cases and none of the three T-cell ALL cases had an ETV6/RUNX1 rearrangement. /// Near-tetraploidy in childhood B-cell precursor acute lymphoblastic leukemia is a highly specific feature of ETV6/RUNX1-positive leukemic cases..
RUNX1_ETV6- 18565891acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia ISH - We screened 1,625 patients who were enrolled onto the Austrian and German ALL-Berlin-Frankfurt-M?nster (ALL-BFM) trials 86, 90, 95, and 2000 with ETV6/RUNX1-specific fluorescent in situ hybridization probes, and we identified 29 patient cases (2%) who had an iAMP21.

ChimerSEQ

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The fusion gene pair RUNX1--ETV6 information is not available in CHIMERSEQ (CHIMERDB 3.0) database.

ChiTaRS 2.1

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The fusion gene pair RUNX1--ETV6 information is not available in CHITARS database.

FARE-CAFE

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The fusion gene pair RUNX1--ETV6 information is available in FARE-CAFE.

Cancer Information
Fusion_ProteinCancer_TypeFP_Experimental_MethodFP_KaryotypeFP_Reference
RUNX1/AML1-ETV6 Childhood leukemia RT-PCR,Southern Blotting t(12;21)(p13;q22) PubMed: 9539781

Genomic Information
Fusion_ProteinFusion_Protein_Isoforms5'_ProteinF_B_PFBP_in_Exon/Intron5'_Protein_on_Positive/Negative_Strands3'_ProteinS_B_P3'_Protein_on_Positive/Negative_StrandsSBP_in_Exon/IntronFusion_Protein_mRNA_sequenceFusion_Protein_ReferenceFusion_Protein_GenbankID
RUNX1/AML1-ETV6 RUNX1/AML1-ETV6-Isoform1 RUNX1/AML1 _ _ 0 ETV6 _ 1 _ _ _ _
RUNX1/AML1-ETV6 RUNX1/AML1-ETV6-Isoform2 RUNX1/AML1 36286068 _ 0 ETV6 12030458 1 0 _ _ _

Domains and DDI Information
Fusion_ProteinFusion_Protein_IsoformsDomains_in_5'PartnerDDIs_for_Domains_in_5'PartnerDomains_in_3'PartnerDDIs_for_Domains_in_3'Partner5'_Protein5'P_Domains5'P_Domains_DDI_partners3'_Protein3'P_Domains3'P_Domains_DDI_partnersMissing_FP_DomainsMissing_FP_Domains_DDI
RUNX1/AML1-ETV6 RUNX1/AML1-ETV6-Isoform1 - - - -RUNX1/AML1 1) Runt
2) RunxI
1) Runt , CBF_beta
ETV6 1) SAM_PNT
2) Ets
1) SAM_PNT , Phage_lysozyme
2) SRF-TF , Ank_2 , PAX , Ets
1) Runt
2) RunxI
3) SAM_PNT
4) Ets
1) Runt , CBF_beta
2) SAM_PNT , Phage_lysozyme
3) SRF-TF , Ank_2 , PAX , Ets
RUNX1/AML1-ETV6 RUNX1/AML1-ETV6-Isoform2 1) Runt
1) Runt , CBF_beta
- -RUNX1/AML1 1) Runt
2) RunxI
1) Runt , CBF_beta
ETV6 1) SAM_PNT
2) Ets
1) SAM_PNT , Phage_lysozyme
2) SRF-TF , Ank_2 , PAX , Ets
1) RunxI
2) SAM_PNT
3) Ets
1) SAM_PNT , Phage_lysozyme
2) SRF-TF , Ank_2 , PAX , Ets

miRNA Information
Fusion_ProteinmiRNAs_Targets_Fusion_proteinMissing_MiRNAs_Targets_Fusion_proteinFP_miRNA_Validation_method
RUNX1/AML1-ETV6 hsa-miR-129-5phsa-miR-296-3phsa-miR-99b-5phsa-miR-92a-3p hsa-miR-27a-3phsa-miR-17-5phsa-miR-20a-5phsa-miR-106a-5phsa-miR-423-5p qPCR,Microarray,NGS

Transcription Factors Information
Fusion_Protein5'P_Ref_mRNA_seqIDFP_Transcription_factorsFP_Missing_TFsFP_TF_Reference
RUNX1/AML1-ETV6 NM_001001890.2 1) MITF_HUMAN
2) HIF1A_HUMAN
3) STAT1_HUMAN
4) RB1_HUMAN
5) RBL2_HUMAN
6) ZNF263_HUMAN
7) E2F4_HUMAN
8) P53_HUMAN
9) RUNX1_HUMAN
10) PRDM14_HUMAN
11) ESTROGEN RECEPTOR ALPHA_HUMAN
12) ETS1_HUMAN
13) EGR1_HUMAN
14) FOS_HUMAN
15) GATA2_HUMAN
16) GATA3_HUMAN
17) E2F1_HUMAN
18) SOX2_HUMAN
19) TAL1_HUMAN
20) CTCF_HUMAN
21) BRG1_HUMAN
22) HNF4A_HUMAN
23) TFAP2C_HUMAN
24) FOXA1_HUMAN
25) CEBPA_HUMAN A
26) STAT6_HUMAN A
27) ESR1_HUMAN A
28) ESR2_HUMAN A
29) AR_HUMAN A
30) MEIS1_HUMAN A
31) FOXP1_HUMAN A
32) NR1H3_HUMAN A
33) SETDB1_HUMAN A
34) SPI1_HUMAN A
35) TAL1_HUMAN A
36) TRIM24_HUMAN A
37) VDR_HUMAN
1) TRIM28_HUMAN
1) 21258399
2) 19828020
3) 19122651
4) 20385362
5) 20385362
6) 19887448
7) 21247883
8) 21394211
9) 20019798
10) 20953172
11) 20547749
12) 20019798
13) 20690147
14) 20139302
15) 21808000
16) 21878914
17) 21310950
18) 21211035
19) 21795385
20) 21795385
21) 19505939
22) 21646355
23) 21572391
24) 21572391
25) 20219941 A
26) 21828071 A
27) 20348243 A
28) 21235772 A
29) 21572438 A
30) 21241896 A
31) 21924763 A
32) 22292898 A
33) 21430779 A
34) 21241896 A
35) 21241896 A
36) 21164480 A
37) 21846776

TicDB

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The fusion gene pair RUNX1--ETV6 information is not available in TicDB.

TUMOR FUSION Gene Data Portal

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The fusion gene pair RUNX1--ETV6 information is not available in TUMOR FUSION Gene Data Portal.

FusionCancer

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The fusion gene pair RUNX1--ETV6 information is not available in FusionCancer Database.

ConjoinG

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The fusion gene pair RUNX1--ETV6 information is not available in ConjoinG Database.

1000Genome

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Fusion gene RUNX1--ETV6 has not been seen in a healthy sample (RNA-seq data from some samples from 1000 genomes project: Greger et al., Tandem RNA Chimeras Contribute to Transcriptome Diversity in Human Population and Are Associated with Intronic Genetic Variants, Plos One, Aug 2014 ). Therefore this candidate fusion gene has a low probability of being a false positive. [Fusion gene List compiled from FusionCatcher]

18Cancers

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Fusion gene RUNX1--ETV6 is not found in a RNA-seq dataset of 18 types of cancers from 600 tumor samples (B. Alaei-Mahabadia et al., Global analysis of somatic structural genomic alterations and their impact on gene expression in diverse human cancers, PNAS, Nov. 2016 )

Bodymap2

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Fusion gene RUNX1--ETV6 is not found in the list of known false positive fusion genes. The list has been generated from healthy human samples collected from 16 organs from Illumina BodyMap2 RNA-seq database. A candidate fusion gene found in this list has a very high probability of being a false positive. [Fusion gene List compiled from FusionCatcher]

HPA

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Fusion gene RUNX1--ETV6 is not found in a healthy sample (RNA-seq database of 27 healthy tissues from 95 human individuals). A candidate fusion gene found in this dataset has a very high probability of being a false positive. [Fusion gene List compiled from FusionCatcher]

Non_Tumor_Cells

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Fusion gene RUNX1--ETV6 was not found among the fusion genes which have been previously reported/found in non-tumor cell lines, like for example HEK293. The genes which are observed in those list can be considered as non-somatic mutation. [Fusion gene List compiled from FusionCatcher]

Babiceanu_Dataset

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The fusion gene pair RUNX1--ETV6 information is not available in Babiceanu_Dataset.

Banned_Dataset

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Fusion gene RUNX1--ETV6 is not found in the list of known false positive fusion genes. A candidate fusion gene found in this list has a very high probability of being a false positive. [Fusion gene List compiled from FusionCatcher]

Known_Fusions

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Fusion gene RUNX1--ETV6 has not been found in the list of fusions previously reported or published in scientific articles/reports/books/abstracts/databases, indexed by Google, Google Scholar, PubMed, etc. The list has been manually curated by FusionCatcher software. This label has only the role to answer with YES or NO the question "has ever before a given (candidate) fusion gene been published or reported?". This label does not have in anyway the role to provide the original references to the original scientific articles/reports/books/abstracts/databases for a given fusion gene.[Fusion gene List compiled from FusionCatcher]

ONGene Database

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The head gene RUNX1 is a known oncogene according to ONGENE database.


The tail gene ETV6 is a known oncogene according to ONGENE database.

Bushman Cancer Gene Database

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The head gene RUNX1 is cancer associated according to Bushman Cancer Gene database.


The tail gene ETV6 is cancer associated according to Bushman Cancer Gene database.

Tumor Gene Set By Uniprot

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The head gene RUNX1 is proto-oncogene or tumor suppresor gene according to Uniprot database.


The tail gene ETV6 is proto-oncogene or tumor suppresor gene according to Uniprot database.

Oesophagus_Dataset

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Fusion gene RUNX1--ETV6 is not found in oesophageal tumors from TCGA samples, which are published here.

Gliomas_Dataset

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Fusion gene RUNX1--ETV6 is not found in the RNA-seq dataset of 272 glioblastomas, published here.

Prostate_Dataset

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The fusion gene pair RUNX1--ETV6 information is not available in Prostate Dataset (150 prostate tumor RNAs, Robison et al, Integrative Clinical Genomics of Advanced Prostate Cancer, Cell, Vol. 161, May 2015, http://dx.doi.org/10.1016/j.cell.2015.05.001).

Pancreases_Dataset

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Fusion gene RUNX1--ETV6 is not found in pancreatic tumor dataset, published here.

GTEx

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Fusion gene RUNX1--ETV6 has not been found in a healthy sample (GTEx database of healthy tissues (thru FusionAnnotator)). A candidate fusion gene found in this set has a very high probability of being a false positive. [Fusion gene List compiled from FusionCatcher]

Klijin_Dataset

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The fusion gene pair RUNX1--ETV6 information is not available in Klijn Dataset.

Fimereli_Dataset

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The fusion gene pair RUNX1--ETV6 information is not found in Fimereli_Dataset.

Literature

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The fusion gene pair RUNX1--ETV6 information is not found in known fusion genelist compiled from literature.

Cortex_Dataset

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Fusion gene RUNX1--ETV6 is not found in Cortex_Dataset (Fusion genes found in healthy human brains (BA9 prefrontal cortex)) . A candidate fusion gene found in this dataset has a very high probability of being a false positive.

ChromothripsisDB

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The fusion gene pair RUNX1--ETV6 information is not available in ChromothripsisDB database.