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ETV6 (ets variant 6)

Written2014-03Etienne De Braekeleer, Nathalie Douet-Guilbert, Marc De Braekeleer
Cytogenetics Laboratory, Faculty of Medicine, University of Brest, France
This article is an update of :
2005-06Stevan Knezevich
BC Cancer Research Centre (BCCRC), Vancouver, British Columbia, Canada
1999-12Serge Pierrick Romana
Service de Cytogenetique (Unite de Cytogenetique Moleculaire), Hopital Necker-Enfants-Malades, 149, rue de Sevres, 75015 Paris, France

Abstract The ETV6 gene located at band 12p13 encodes a protein containing two major domains, the HLH (helix-loop-helix) domain, encoded by exons 3 and 4, and the ETS domain, encoded by exons 6 through 8, with in between the internal domain encoded by exon 5. ETV6 is a strong transcriptional repressor, acting through its HLH and internal domains. Five potential mechanisms of ETV6-mediated carcinogenesis have been identified: constitutive activation of the kinase activity of the partner protein, modification of the original functions of a transcription factor, loss of function of the fusion gene, affecting ETV6 and the partner gene, activation of a proto-oncogene in the vicinity of a chromosomal translocation and dominant negative effect of the fusion protein over transcriptional repression mediated by wild-type ETV6. Thirty-three ETV6 partner genes have been identified.

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HGNC (Hugo) ETV6
HGNC Alias symbTEL
HGNC Alias nameTEL oncogene
HGNC Previous nameets variant gene 6 (TEL oncogene)
 ETS variant 6
LocusID (NCBI) 2120
Atlas_Id 38
Location 12p13.2  [Link to chromosome band 12p13]
Location_base_pair Starts at 11649674 and ends at 11895377 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping ETV6.png]
  ETV6 (12p13.2) in normal cells: clone dJ852F10 - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
  ETV6 (ets variant 6) Hybridization with Vysis ETV6 break apart rearrangement probe (Abbott Molecular, US) showing the gene on 12p13.2 (red-green or a fused yellow signal) - Courtesy Adriana Zamecnikova.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ABL1 (9q34.12)::ETV6 (12p13.2)ABL2 (1q25.2)::ETV6 (12p13.2)ACSL1 (4q35.1)::ETV6 (12p13.2)
ACSL5 (10q25.2)::ETV6 (12p13.2)ACSL6 (5q31.1)::ETV6 (12p13.2)ADAMTS16 (5p15.32)::ETV6 (12p13.2)
ARNT (1q21.3)::ETV6 (12p13.2)BCL2L14 (12p13.2)::ETV6 (12p13.2)CDX2 (13q12.2)::ETV6 (12p13.2)
CHIC2 (4q12)::ETV6 (12p13.2)EMP1 (12p13.1)::ETV6 (12p13.2)ERC1 (12p13.33)::ETV6 (12p13.2)
ETV6 (12p13.2)::ABL1 (9q34.12)ETV6 (12p13.2)::ABL2 (1q25.2)ETV6 (12p13.2)::ACSL1 (4q35.1)
ETV6 (12p13.2)::ACSL5 (10q25.2)ETV6 (12p13.2)::ACSL6 (5q31.1)ETV6 (12p13.2)::ANLN (7p14.2)
ETV6 (12p13.2)::ARNT (1q21.3)ETV6 (12p13.2)::BAZ2A (12q13.3)ETV6 (12p13.2)::BCL2L14 (12p13.2)
ETV6 (12p13.2)::BORCS5 (12p13.2)ETV6 (12p13.2)::C19orf66 (19p13.2)ETV6 (12p13.2)::CDK2AP1 (12q24.31)
ETV6 (12p13.2)::CDKN1B (12p13.1)ETV6 (12p13.2)::CDX2 (13q12.2)ETV6 (12p13.2)::CHIC2 (4q12)
ETV6 (12p13.2)::CPED1 (7q31.31)ETV6 (12p13.2)::CREBBP (16p13.3)ETV6 (12p13.2)::EBF1 (5q33.3)
ETV6 (12p13.2)::ELMO1 (7p14.2)ETV6 (12p13.2)::EPHA6 (3q11.2)ETV6 (12p13.2)::ETV6 (12p13.2)
ETV6 (12p13.2)::FCHO2 (5q13.2)ETV6 (12p13.2)::FGFR3 (4p16.3)ETV6 (12p13.2)::FLT3 (13q12.2)
ETV6 (12p13.2)::FRK (6q22.1)ETV6 (12p13.2)::GOT1 (10q24.2)ETV6 (12p13.2)::GRIA2 (4q32.1)
ETV6 (12p13.2)::HOXD1 (2q31.1)ETV6 (12p13.2)::INO80D (2q33.3)ETV6 (12p13.2)::ITPR2 (12p11.23)
ETV6 (12p13.2)::ITPR2 (12p12.1)ETV6 (12p13.2)::JAK2 (9p24.1)ETV6 (12p13.2)::LPXN (11q12.1)
ETV6 (12p13.2)::LYN (8q12.1)ETV6 (12p13.2)::MDS2 (1p36.11)ETV6 (12p13.2)::MECOM (3q26.2)
ETV6 (12p13.2)::MN1 (22q12.1)ETV6 (12p13.2)::MNX1 (7q36.3)ETV6 (12p13.2)::NCOA2 (8q13.3)
ETV6 (12p13.2)::NID1 (1q42.3)ETV6 (12p13.2)::NKAIN2 (6q22.31)ETV6 (12p13.2)::NTRK3 (15q25.3)
ETV6 (12p13.2)::PAX5 (9p13.2)ETV6 (12p13.2)::PDGFRA (4q12)ETV6 (12p13.2)::PDGFRB (5q32)
ETV6 (12p13.2)::PER1 (17p13.1)ETV6 (12p13.2)::PGAP3 (17q12)ETV6 (12p13.2)::PLEKHG6 (12p13.31)
ETV6 (12p13.2)::PMEL (12q13.2)ETV6 (12p13.2)::PRDM16 (1p36.32)ETV6 (12p13.2)::PTPRO (12p12.3)
ETV6 (12p13.2)::PTPRR (12q15)ETV6 (12p13.2)::QSOX1 (1q25.2)ETV6 (12p13.2)::RARA (17q21.2)
ETV6 (12p13.2)::RERE (1p36.23)ETV6 (12p13.2)::RNF217 (6q22.31)ETV6 (12p13.2)::RNF217-AS1 (6q22.31)
ETV6 (12p13.2)::RUNX1 (21q22.12)ETV6 (12p13.2)::STK3 (8q22.2)ETV6 (12p13.2)::SYK (9q22.2)
ETV6 (12p13.2)::TAOK1 (17q11.2)ETV6 (12p13.2)::TTL (2q13)ETV6 (12p13.2)::YTHDF2 (1p35.3)
FGFR3 (4p16.3)::ETV6 (12p13.2)FLT3 (13q12.2)::ETV6 (12p13.2)HNRNPA2B1 (7p15.2)::ETV6 (12p13.2)
HOXD1 (2q31.1)::ETV6 (12p13.2)IKZF1 (7p12.2)::ETV6 (12p13.2)JAK2 (9p24.1)::ETV6 (12p13.2)
JCHAIN (4q13.3)::ETV6 (12p13.2)MDS2 (1p36.11)::ETV6 (12p13.2)MECOM (3q26.2)::ETV6 (12p13.2)
MN1 (22q12.1)::ETV6 (12p13.2)MNX1 (7q36.3)::ETV6 (12p13.2)MSH6 (2p16.3)::ETV6 (12p13.2)
NKAIN2 (6q22.31)::ETV6 (12p13.2)NTRK3 (15q25.3)::ETV6 (12p13.2)PAX5 (9p13.2)::ETV6 (12p13.2)
PDGFRB (5q32)::ETV6 (12p13.2)PDZD7 (10q24.31)::ETV6 (12p13.2)PER1 (17p13.1)::ETV6 (12p13.2)
PGAP3 (17q12)::ETV6 (12p13.2)RNF217-AS1 (6q22.31)::ETV6 (12p13.2)RUNX1 (21q22.12)::ETV6 (12p13.2)
SENP7 (3q12.3)::ETV6 (12p13.2)STPG1 (1p36.11)::ETV6 (12p13.2)SYK (9q22.2)::ETV6 (12p13.2)
TTL (2q13)::ETV6 (12p13.2)


  Schematic diagram of the ETV6 gene showing the 8 exons. Exon 1b is an alternative exon located in intron 2. Reprinted from Leukemia Research, vol 36, De Braekeleer E et al. ETV6 fusion genes in hematological malignancies: A review. Pages 945-961, 2012. With permission from Elsevier.
Description A member of the ets (E-26 transforming specific) family of transcription factors; the gene spans a region of 240 kb and consists of 8 exons. There are two start codons, one (exon 1a starting at codon 1) located at the beginning of the gene and another alternative (exon 1b starting at codon 43) upstream of exon 3.
Transcription Transcription is from telomere to centromere; there are three species of transcripts : 2400 kb, 4300 kb and 6200 kb; the gene encodes for a 1356 kb cDNA.


  Schematic diagram of the ETV6 protein showing the major domains. Reprinted from Leukemia Research, vol 36, De Braekeleer E et al. ETV6 fusion genes in hematological malignancies: A review. Pages 945-961, 2012. With permission from Elsevier.
Description The ETV6 protein is a 452 amino acid polypeptide that shares homology at the 5' and 3' ends with other ETS family members. ETS proteins form one of the largest families of signal-dependent transcriptional regulators, mediating cell proliferation, differentiation and tumorigenesis. The ETV6 protein contains two major domains, the HLH (helix-loop-helix) and ETS domains. The HLH domain, also referred to as the pointed or sterile alpha motif domain, is encoded by exons 3 and 4 and is responsible for hetero- and homodimerization with other ETV6 proteins and possibly other ets family members. The ETS domain, encoded by exons 6 through 8, is responsible for sequence specific DNA-binding and protein-protein interaction. A central domain, called internal domain, is encoded by exon 5 and is involved in the recruitment of a repression complex including N-Cor, mSin3 and SMRT.
Expression Expression arrays and Northern analysis have shown ubiquitous expression with greater expression in bone marrow, spleen and thymus.
Localisation Immunofluorescence has shown a nuclear localization.
Function The ETV6 protein plays a crucial role in the embryonic development and hematopoietic regulation. ETV6 is essential for normal development and is specifically required for maintaining blood vessel integrity within the developing yolk sac and survival of different cell types in the developing embryo. ETV6 is essential for the establishment of hematopoiesis of all lineages in the bone marrow.
ETV6 is a strong transcriptional repressor. Repression is mediated by the HLH domain and the internal domain. Repression by the HLH domain is mediated through interaction with the HLH domain of L3MBTL1, a member of the polycomb group of chromatin-associated proteins, that can maintain long term repression of genes through a histone deacetylase-independent mechanism. Repression by the internal domain is mediated through interaction with corepressors such as N-Cor, mSin3 and SMRT, which in turn can recruit histone deacetylases.


Note ETV6 is implicated in leukemia, myelodysplastic syndromes and sarcoma.
Deletions: ETV6 is frequently deleted in hematological malignancies. The deletion of the normal (untranslocated) ETV6 allele in the presence of a translocation affecting ETV6 is quite frequent, notably in patients with ETV6-RUNX1, ETV6-NTRK3, ETV6-ABL1, ETV6-ACSL6 and ETV6-STL fusion. Deletion of an ETV6 allele has also been observed in the absence of rearrangement of the second allele.

Implicated in

Entity MDS2/ETV6
Disease One CML with t(9;22) (no molecular analysis) and one refractory anemia with excess of blasts in transformation.
Abnormal Protein Truncated ETV6 protein lacking critical functional domains and suggesting a loss of function of ETV6.
Oncogenesis Loss of function of ETV6? Expression of RPL11, centromeric to MDS2 (63.5 kb) much higher in the patient than in controls.
Entity ARNT/ETV6
Disease One AML-M2 and one T-cell acute lymphoblastic leukemia.
Hybrid/Mutated Gene The ETV6-ARNT transcript contains the first 4 exons of ETV6 fused in frame with exon 1 or 2 of ARNT.
Abnormal Protein The ETV6-ARNT protein contains the oligomerization domain of ETV6 and almost all of the ARNT protein, including its major domains.
Oncogenesis Given the presence of the oligomerization domain of ETV6 in the ETV6-ARNT protein, it is expected that the HLH domain of ETV6 convert ARNT from a transcriptional activator into a repressor. Furthermore, the ETV6-ARNT fusion protein retaining the HLH domain of ETV6 could interact with the other ETV6 protein.
Entity ABL2/ETV6
Disease AML-M3, AML-M4, T-cell ALL, B-cell ALL.
Hybrid/Mutated Gene Breakpoint in intron 5 of ETV6 in all three cases.
Abnormal Protein Fusion protein contains the HLH oligomerization domain of ETV6 and the SH2, SH3, and protein tyrosine kinase domains of ABL2.
Oncogenesis Constitutive activation of the kinase activity of ABL2.
Note Rare, but recurrent, chromosomal aberration (more than 30 cases). Few patients studied on a molecular level.
Disease Myeloproliferative disorders, myelodysplastic syndromes and acute myelogenous leukemia.
Hybrid/Mutated Gene Two different mechanisms for generating the fusion gene.
First mechanism: in-frame chimeric transcript consisting of the first two exons of ETV6 fused to MDS1 sequences, which in turn is fused to the second exon of the EVI1 gene.
Second mechanism: direct fusion between ETV6 and EVI1, in which case an out-of-frame fusion between exon 2 of ETV6 and exon 2 of EVI1 is generated but the open reading frame of EVI1 is not disrupted.
Abnormal Protein In both fusion types, ETV6 contributes no known functional domain to the predicted chimeric protein.
Oncogenesis Oncogenic potential of the translocation could be the result of the ETV6 promoter driving the transcription of EVI1, resulting in activation of the transcription factor EVI1, which is not normally expressed in hematopoietic cells.
Entity FGFR3/ETV6
Disease Peripheral T-cell lymphoma
Hybrid/Mutated Gene Fusion of exon 5 of ETV6 to exon 10 of FGFR3.
Abnormal Protein Protein consists of the HLH domain of ETV6 and the tyrosine kinase domain of FGFR3.
Oncogenesis Constitutive activation of the kinase activity of FGFR3.
Entity CHIC2 (BTL)/ETV6
Note Rare but recurrent chromosomal abnormality. Ten cases with molecular analysis showed a CHIC2/ETV6 fusion gene.
Disease AML (FAB type M0, M1, M2, therapy-related), RAEB.
Hybrid/Mutated Gene At least two different mechanisms.
First mechanism: In-frame fusion between CHIC2 exons 1-3 and exons 2-8 of the ETV6 gene.
Second mechanism: Breakpoints located in introns 1 and 2 of ETV6 but outside the CHIC2 gene, with no detectable CHIC2-ETV6 fusion gene.
Abnormal Protein Fusion protein contains both the HLH and ETS domains of ETV6 but no specific domain of CHIC2.
Oncogenesis Ectopic expression of GSX2 detected in all cases studied, with or without the CHIC2-ETV6 fusion. GSX2 contains a homeobox domain very similar to the homeobox of the clustered HOX genes, which are involved in both normal and abnormal hematopoiesis. Overexpression of GSX2, but not CHIC2-ETV6 has transforming properties.
Entity ACSL6/ETV6
Note Recurrent translocation occurring in various myeloid malignancies, often associated with eosinophilia. Only seven cases with molecular analysis.
Disease Myelodysplastic syndrome (RAEB), AML, AEL, atypical CML, Polycythemia Vera.
Hybrid/Mutated Gene Different fusion genes are generated in four patients:
- in-frame fusion of exon 1 of ETV6 to the 3'UTR of ACSL6
- out-of-frame fusion of exon 2 of ETV6 to exon 11 of ACSL6
- out-of-frame fusion of exon 1 of ETV6 to exon 1 of ACSL6
- in-frame fusion of exon 1 of ETV6 to almost the complete ACSL6 (breakpoint at the 5' end of the ACSL6 gene).
Oncogenesis Given the absence of a common in-frame fusion gene generated by the t(5;12)(q31;p13) and the heterogeneity in the localization of the ACSL6 breakpoints, no common fusion protein can explain the pathogenic character of the translocation. IL3, located near the breakpoint at 5q31, is ectopically expressed in the leukemic cells, leading to a proliferative defect.
Note Recurrent chromosomal abnormality (dozens of cases).
Disease Myeloproliferative/myelodysplastic syndrome (usually referred as atypical Philadelphia-negative CML and CMML) with eosinophilia.
Hybrid/Mutated Gene Exon 4 of the ETV6 gene is generally fused in-frame to exon 11 of the PDGFRB gene.
Two cases showing a different fusion gene with the ETV6 breakpoint in intron 7.
Abnormal Protein Protein includes the HLH domain of ETV6 and the tyrosine kinase domain of PDGFRB.
In both cases showing a different fusion gene, the fusion protein retains the internal domain of ETV6 which has the ability to bind to corepressors and induce the transcription-repressive activity of ETV6.
Oncogenesis Constitutive activation of the kinase activity of PDGFRB.
In both cases showing a different fusion gene, it is likely that the fusion protein acts differently from that observed in the other cases.
Entity STL/ETV6
Note Only one case reported.
Disease B-cell ALL.
Hybrid/Mutated Gene Fusion gene only retains the first two exons of ETV6.
Abnormal Protein Fusion protein contains no important domains (HLH or ETS) of ETV6.
Oncogenesis It is likely that the truncated ETV6 contributes to leukemogenesis through ETV6 haploinsufficiency.
Entity MNX1(HLXB9)/ETV6
Note Recurrent translocation found in 20 to 30% of AML children less than 18 months of age. The 7q36 breakpoint heterogeneity suggests that this translocation does not lead to the formation of a unique fusion gene. Six cases with molecular analysis showing a MNX1/ETV6 fusion.
Disease AML
Hybrid/Mutated Gene 5' MNX1-3' ETV6 resulting in a transcript in which MNX1 exon 1 is joined with ETV6 exon 3.
Abnormal Protein Protein contains the HLH and ETS domains of ETV6 but not the homeobox domain of MNX1.
Oncogenesis It is thought that the chimeric protein acts as an aberrant transcription factor, which could affect both MNX1 and ETV6 pathways of transcription modulation.
Entity PAX5/ETV6
Note Nonrandom chromosome abnormality found in about 1% of childhood B-cell ALL.
Disease ALL.
Hybrid/Mutated Gene 5'PAX5-3'ETV6 transcript with fusion of exon 4 of PAX5 to exon 3 of ETV6.
Abnormal Protein The PAX5-ETV6 protein contains the "paired box" (DNA binding) domain of PAX5 fused to the HLH and ETS-binding domains of ETV6.
Oncogenesis It is thought that the chimeric protein could act as an aberrant transcription factor, which could affect both PAX5 and ETV6 pathways of transcription modulation.
Entity JAK2/ETV6
Note Only six cases described with ETV6/JAK2 fusion.
Disease Pre-B ALL, atypical CML, T-cell ALL.
Hybrid/Mutated Gene Breakpoint variability: introns 4 and 5 of ETV6 and introns 12 and 17 of JAK2.
Abnormal Protein Protein retains the HLH domain of ETV6 but different domains of JAK2 (complete JH2 and JH1 in one case, only part of JH2 in the other).
Oncogenesis Constitutive activation of the kinase activity of JAK2.
Entity SYK/ETV6
Note Only two cases reported.
Disease MDS.
Hybrid/Mutated Gene Chimeric gene fuses the first 5 exons of ETV6 with SYK starting with exon 5.
Abnormal Protein Fusion protein contains the HLH domain of ETV6 with part of the C-terminal SH2 and the complete protein kinase domain of SYK.
Oncogenesis Constitutive activation of SYK kinase activity.
Entity ABL1/ETV6
Note 26 cases described with different hemopathies but eosinophilia is a common feature.
Disease Acute myeloblastic leukemia (AML), chronic myelogenous leukemia (CML), B-cell acute lymphocytic leukemia (ALL), T-cell ALL, MDS (RAEB), chronic myeloproliferative neoplasm, Philadelphia chromosome-negative CML.
Hybrid/Mutated Gene Two ETV6-ABL1 transcripts are usually identified: one joining exon 5 of ETV6 to exon 2 of ABL1 and one joining ETV6 exon 4 to ABL1 exon 2.
Abnormal Protein The protein retains all three SH domains, including the tyrosine kinase domain, of ABL1 and the HLH domain of ETV6.
Oncogenesis Tyrosine kinase activation of ABL1.
Entity GOT1/ETV6
Note Two cases of MDS described.
Disease MDS (RA and RAEB).
Hybrid/Mutated Gene Transcript containing exon 2 to exon 9 of GOT1 and the first 2 or 3 exons of ETV6.
Abnormal Protein Absence or truncation of the HLH domain of ETV6 in the protein.
Oncogenesis Possibly inactivation of the wild type ETV6.
Entity ETV6/CDX2
Note The t(12;13)(p13;q12-14) is a rare, but recurrent, translocation reported in a range of malignant hemopathies. However, it is evident from FISH studies that they are heterogeneous at the molecular level.
Disease CML in transformation, myelodysplastic syndrome (MDS), acute non lymphocytic leukemia (AML), B and T- ALL. A sole case with ETV6/CDX2 fusion in a AML-M1.
Hybrid/Mutated Gene One in-frame fusion between exon 2 of ETV6 and exon 2 of CDX2; one fusion introducing an in-frame stop codon.
Abnormal Protein ETV6 contributes no functional domain to the fusion protein.
Oncogenesis It is likely that the ETV6 promoter drives the transcription and ectopic activation of CDX2, which has leukemogenesis properties.
Entity ETV6/TTL [not annotated gene in HGNC]
Note Identified in several cases of ALL and less frequently in acute or chronic myeloid malignancies.
Disease A sole case with TTL/ETV6 fusion in a ALL.
Hybrid/Mutated Gene ETV6/TTL fusion transcript: 3' TTL sequence introduces an in-frame stop codon after the end of ETV6 exon 1.
TTL-ETV6 transcript is a direct in-frame fusion between TTL exon 5 and ETV6 exon 2.
Abnormal Protein No ETV6 functional domains in the ETV6/TTL protein; HLH and ETS domains conserved in TTL-ETV6 protein.
Oncogenesis Chimeric protein could act as an aberrant transcription factor, affecting the ETV6 pathway of transcription modulation, or there could be a loss of function of ETV6 and/or TTL.
Entity ETV6/NTRK3
Disease Congenital Fibrosarcoma, Congenital Mesoblastic Nephroma (cellular and mixed variants), Secretory Ductal Carcinoma of Breast, rarely in AML (M0, M2) and chronic eosinophilia leukemia (1 case).
Hybrid/Mutated Gene 5' ETV6-3' NTRK3.
Abnormal Protein Fusion protein retains the HLH domain of ETV6 and the protein tyrosine kinase (PTK) domain of NTRK3.
Oncogenesis Constitutive active tyrosine kinase.
Entity ETV6/PER1
Disease Only one case of AML evolving from CMML.
Hybrid/Mutated Gene Fusion between exon 1 of the ETV6 gene and exon 22 and part of intron 21 of PER1.
Abnormal Protein No protein as PER1 has an antisense orientation.
Oncogenesis It is proposed that PER1 inactivation or deregulated expression of genes located close to the breakpoint, such as HES7 or STK12, could contribute to leukemogenesis.
Entity ETV6/RUNX1
Note Most common structural chromosomal abnormality in pediatric common or B-cell acute lymphoblastic leukemia, accounting for about 20-25% of the cases.
Disease Childhood B-cell (ALL).
Hybrid/Mutated Gene Fusion of the 5' region of ETV6 (from exon 1 to 5) with almost the entire coding region of RUNX1.
Abnormal Protein The fusion protein retains the HLH domain and the central repression domain of ETV6 as well as the RHD (Runt homology domain) and the transcription activation domain of RUNX1.
Oncogenesis The ETV6-RUNX1 fusion protein retains the ability to bind the RUNX1 target sequences and functions as a histone deacetylase (HDAC)-dependent repressor, causing deregulation of the RUNX1 target genes. ETV6-RUNX1 is also likely to disrupt normal ETV6 functions through HLH-mediated heterodimerization.
Entity MN1/ETV6
Note Rare anomaly in myeloid hemopathies (6 cases with molecular analysis).
Disease Myeloproliferative disorder, myelodysplastic syndrome, AML.
Hybrid/Mutated Gene Two different types of MN1/ETV6 fusion (types I and II).
Abnormal Protein Type I fusion protein contains almost the entire MN1 fused to ETV6 at a position N terminal to the HLH domain whereas type II fusion protein has only part of the HLH domain, making it nonfunctional. Both fusion types retain the ETS domain.
Oncogenesis Could act as an altered transcription factor by activating ETV6-responsive transcription and/or inhibiting RAR-mediated transcription and/or being a dominant-negative suppressor of MN1.
Note PDGFRA is a gene found to be fused with several partners in chronic eosinophilic leukemia.
Disease Only one case of myeloproliferative neoplasm associated with hypereosinophilia and ETV6/PDGFRA fusion.
Hybrid/Mutated Gene In-frame fusion gene between ETV6 exon 6 and PDGFRA exon 11.
Abnormal Protein Protein retains most of ETV6, including the HLH domain and part of the ETS domain, fused to the WW-like domain and the kinase domain of PDGFRA.
Oncogenesis Constitutive protein kinase activation.
Entity ETV6/FLT3
Note FLT3 is one of the most frequently mutated genes in hematological malignancies, being found in about 30% of AML patients and rarely in ALL patients.
Disease Three cases of myeloproliferative neoplasm with hypereosinophilia associated with ETV6/FLT3 fusion.
Hybrid/Mutated Gene In-frame fusion gene between ETV6 exon 4 or exon 5 and FLT3 exon 14.
Abnormal Protein Protein retains the HLH domain of ETV6 and the tyrosine kinase domains of FLT3.
Oncogenesis Constitutively tyrosine kinase activation.
Entity ETV6/FRK
Disease Only one case of AML-M4.
Hybrid/Mutated Gene ETV6 exon 4 fused in frame to exon 3 of FRK.
Abnormal Protein Chimeric protein composed of the HLH domain of ETV6 and most of the SH2 (likely to be nonfunctional) and the kinase domains of FRK.
Oncogenesis Dual action of constitutively tyrosine kinase activation and dominant-negative effect on ETV6-mediated transcriptional repression.
Entity ETV6/LYN
Disease Only one case of primary myelofibrosis associated with ETV6/LYN.
Hybrid/Mutated Gene Chimeric gene consists of the 5' region of ETV6 (breakpoint in intron 5) and the 3' region of LYN.
Abnormal Protein Protein retains the HLH domain of ETV6 and the tyrosine kinase domain of LYN.
Oncogenesis Constitutively tyrosine kinase activation.
Disease Only one case of AML-M2 associated with ETV6/PTPRR.
Hybrid/Mutated Gene ETV6 exon 4 is fused to exon 7 of the PTPRR; 10 isoforms through alternative splicing.
Abnormal Protein A truncated ETV6 including the HLH domain but no functional domains of PTPRR due to frameshift and a chimeric ETV6-PTPRR protein that includes the HLH domain of ETV6 and the protein tyrosine phosphatase domain of PTPRR among others.
Oncogenesis Dominant negative effect over transcriptional repression mediated by wild-type ETV6.
Entity ETV6/NCOA2
Disease Pediatric acute biphenotypic leukemia (6 cases with ETV6/NCOA2), adult T-ALL (1 case).
Hybrid/Mutated Gene Two different in-frame fusions are known:
- one between ETV6 exon 4 and NCOA2 exon 15 (five cases)
- one between ETV6 exon 5 and NCOA2 exon 14 (one case).
Abnormal Protein Protein consists of the HLH domain of ETV6 and the CBP interaction and the AD2 (transactivation domain 2) acetyltransferase domains of NCOA2.
Oncogenesis It is hypothesized that the ETV6-NCOA2 protein acts as a modulator of the transcriptional activity of CBP-dependent activators or can recruit CBP to ETV6 target genes resulting in their constitutive activation.
Entity Cryptic rearrangement shown by FISH between 12p13 and 12q24 ETV6/BAZ2A in a t(?1;12)(q42;p13)
Disease Only one case of pre-B ALL.
Hybrid/Mutated Gene Fusion of ETV6 and BAZ2A consisting of exons 1 and 2 of ETV6 and a sequence from intron 1 of BAZ2A.
Abnormal Protein No chimeric protein expected to be produced, but, maybe, a truncated ETV6.
Oncogenesis It is likely that the truncated ETV6 contributes to leukemogenesis through ETV6 haploinsufficiency.
Entity ETV6/FCHO2
Disease Only one case of AML-M1.
Hybrid/Mutated Gene Transcript consisting of ETV6 exons 1 and 2 with sequences of FCHO2.
Abnormal Protein No chimeric protein expected to be produced (genes in opposite orientations following the translocation), but, maybe, a truncated ETV6.
Oncogenesis It is likely that the truncated ETV6 contributes to leukemogenesis through ETV6 haploinsufficiency.
Entity ETV6/IGH co-localization
Disease One case of pediatric pre-B ALL.
Cytogenetics Co-localization of both ETV6 and IGH signals by FISH (no molecular analysis).
Entity ETV6/EMID1
Disease Only one case of AML-M2.
Cytogenetics Co-localization of both ETV6 and EMID1 signals by FISH (no molecular analysis).
Abnormal Protein No chimeric protein expected to be produced (genes in opposite orientations following the translocation), but, maybe, a truncated ETV6.
Entity ETV6/RARA
Disease Only one case of myelofibrosis evolved in AML.
Cytogenetics Co-localization of both ETV6 and RARA signals by FISH (no molecular analysis).
Abnormal Protein No chimeric protein expected to be produced (genes in opposite orientations following the translocation), but, maybe, a truncated ETV6.
Disease Only one case of acute megakaryoblastic leukemia (AML-M7).
Cytogenetics Co-localization of both ETV6 and NIPBL signals by FISH (no molecular analysis).


  Physical map of the breakpoint distribution in the ETV6 gene. Yellow boxes: receptor tyrosine kinase genes; orange boxes: non-receptor tyrosine kinase genes; red boxes: transcription factor genes; green boxes: homeobox genes; blue boxes: other genes. Reprinted from Leukemia Research, vol 36, De Braekeleer E. et al. ETV6 fusion genes in hematological malignancies: A review. Pages 945-961, 2012. With permission from Elsevier.


BCR/ABL-negative chronic myeloid leukemia with ETV6/ABL fusion.
Andreasson P, Johansson B, Carlsson M, Jarlsfelt I, Fioretos T, Mitelman F, Hoglund M.
Genes Chromosomes Cancer. 1997 Nov;20(3):299-304.
PMID 9365838
Genomic organization of TEL: the human ETS-variant gene 6.
Baens M, Peeters P, Guo C, Aerssens J, Marynen P.
Genome Res. 1996 May;6(5):404-13.
PMID 8743990
A physical, transcript, and deletion map of chromosome region 12p12.3 flanked by ETV6 and CDKN1B: hypermethylation of the LRP6 CpG island in two leukemia patients with hemizygous del(12p).
Baens M, Wlodarska I, Corveleyn A, Hoornaert I, Hagemeijer A, Marynen P.
Genomics. 1999 Feb 15;56(1):40-50.
PMID 10036184
Establishment and cytogenetic characterization of a human acute lymphoblastic leukemia cell line (ALL-VG) with ETV6/ABL1 rearrangement.
Baeumler J, Szuhai K, Falkenburg JH, van Schie ML, Ottmann OG, Nijmeijer BA.
Cancer Genet Cytogenet. 2008 Aug;185(1):37-42. doi: 10.1016/j.cancergencyto.2008.05.001.
PMID 18656692
Clinical and genetic studies of ETV6/ABL1-positive chronic myeloid leukaemia in blast crisis treated with imatinib mesylate.
Barbouti A, Ahlgren T, Johansson B, Hoglund M, Lassen C, Turesson I, Mitelman F, Fioretos T.
Br J Haematol. 2003 Jul;122(1):85-93.
PMID 12823349
Somatic heterozygous mutations in ETV6 (TEL) and frequent absence of ETV6 protein in acute myeloid leukemia.
Barjesteh van Waalwijk van Doorn-Khosrovani S, Spensberger D, de Knegt Y, Tang M, Lowenberg B, Delwel R.
Oncogene. 2005 Jun 9;24(25):4129-37.
PMID 15806161
Clinical effect of point mutations in myelodysplastic syndromes.
Bejar R, Stevenson K, Abdel-Wahab O, Galili N, Nilsson B, Garcia-Manero G, Kantarjian H, Raza A, Levine RL, Neuberg D, Ebert BL.
N Engl J Med. 2011 Jun 30;364(26):2496-506. doi: 10.1056/NEJMoa1013343.
PMID 21714648
A new complex rearrangement involving the ETV6, LOC115548, and MN1 genes in a case of acute myeloid leukemia.
Belloni E, Trubia M, Mancini M, Derme V, Nanni M, Lahortiga I, Riccioni R, Confalonieri S, Lo-Coco F, Di Fiore PP, Pelicci PG.
Genes Chromosomes Cancer. 2004 Nov;41(3):272-7.
PMID 15334551
Chromosome abnormalities of the short arm of chromosome 12 in hematopoietic malignancies: a report including three novel translocations involving the TEL/ETV6 gene.
Berger R, Le Coniat M, Lacronique V, Daniel MT, Lessard M, Berthou C, Marynen P, Bernard O.
Leukemia. 1997 Sep;11(9):1400-3.
PMID 9305591
TEL-AML1, expressed from t(12;21) in human acute lymphocytic leukemia, induces acute leukemia in mice.
Bernardin F, Yang Y, Cleaves R, Zahurak M, Cheng L, Civin CI, Friedman AD.
Cancer Res. 2002 Jul 15;62(14):3904-8.
PMID 12124316
Fusion of the homeobox gene HLXB9 and the ETV6 gene in infant acute myeloid leukemias with the t(7;12)(q36;p13).
Beverloo HB, Panagopoulos I, Isaksson M, van Wering E, van Drunen E, de Klein A, Johansson B, Slater R.
Cancer Res. 2001 Jul 15;61(14):5374-7.
PMID 11454678
A TEL/ABL fusion gene on chromosome 12p13 in a case of Ph-, BCR-atypical CML.
Brunel V, Sainty D, Carbuccia N, Mozzicconacci M, Fernandez F, Simonetti J, Gabert J, Dubreuil P, Lafage-Pochitaloff M, Birg F.
Leukemia. 1996;10:2003.
Translocation (12;22) (p13;q11) in myeloproliferative disorders results in fusion of the ETS-like TEL gene on 12p13 to the MN1 gene on 22q11.
Buijs A, Sherr S, van Baal S, van Bezouw S, van der Plas D, Geurts van Kessel A, Riegman P, Lekanne Deprez R, Zwarthoff E, Hagemeijer A, et al.
Oncogene. 1995 Apr 20;10(8):1511-9.
PMID 7731705
The MN1-TEL fusion protein, encoded by the translocation (12;22)(p13;q11) in myeloid leukemia, is a transcription factor with transforming activity.
Buijs A, van Rompaey L, Molijn AC, Davis JN, Vertegaal AC, Potter MD, Adams C, van Baal S, Zwarthoff EC, Roussel MF, Grosveld GC.
Mol Cell Biol. 2000 Dec;20(24):9281-93.
PMID 11094079
The paired box domain gene PAX5 is fused to ETV6/TEL in an acute lymphoblastic leukemia case.
Cazzaniga G, Daniotti M, Tosi S, Giudici G, Aloisi A, Pogliani E, Kearney L, Biondi A.
Cancer Res. 2001 Jun 15;61(12):4666-70.
PMID 11406533
The leukemia-associated gene TEL encodes a transcription repressor which associates with SMRT and mSin3A.
Chakrabarti SR, Nucifora G.
Biochem Biophys Res Commun. 1999 Nov 2;264(3):871-7.
PMID 10544023
Fusion of ETV6 to the caudal-related homeobox gene CDX2 in acute myeloid leukemia with the t(12;13)(p13;q12).
Chase A, Reiter A, Burci L, Cazzaniga G, Biondi A, Pickard J, Roberts IA, Goldman JM, Cross NC.
Blood. 1999 Feb 1;93(3):1025-31.
PMID 9920852
Clinical and cytogenetic features of 508 Chinese patients with myelodysplastic syndrome and comparison with those in Western countries.
Chen B, Zhao WL, Jin J, Xue YQ, Cheng X, Chen XT, Cui J, Chen ZM, Cao Q, Yang G, Yao Y, Xia HL, Tong JH, Li JM, Chen J, Xiong SM, Shen ZX, Waxman S, Chen Z, Chen SJ.
Leukemia. 2005 May;19(5):767-75.
PMID 15759035
Minimally differentiated acute myeloid leukemia with t(12;22)(p13;q11) translocation showing primary multidrug resistance and expressing multiple multidrug-resistant proteins.
Chen S, Xue Y, Zhu X, Wu Y, Pan J.
Acta Haematol. 2007;118(1):38-41. Epub 2007 Apr 27.
PMID 17476096
Myeloid- and lymphoid-specific breakpoint cluster regions in chromosome band 13q14 in acute leukemia.
Coignet LJ, Lima CS, Min T, Streubel B, Swansbury J, Telford N, Swanton S, Bowen A, Nagai M, Catovsky D, Fonatsch C, Dyer MJ.
Genes Chromosomes Cancer. 1999 Jul;25(3):222-9.
PMID 10379868
Fusion of a novel gene, BTL, to ETV6 in acute myeloid leukemias with a t(4;12)(q11-q12;p13).
Cools J, Bilhou-Nabera C, Wlodarska I, Cabrol C, Talmant P, Bernard P, Hagemeijer A, Marynen P.
Blood. 1999 Sep 1;94(5):1820-4.
PMID 10477709
Evidence for position effects as a variant ETV6-mediated leukemogenic mechanism in myeloid leukemias with a t(4;12)(q11-q12;p13) or t(5;12)(q31;p13).
Cools J, Mentens N, Odero MD, Peeters P, Wlodarska I, Delforge M, Hagemeijer A, Marynen P.
Blood. 2002 Mar 1;99(5):1776-84.
PMID 11861295
A novel ETV6-PDGFRB fusion transcript missed by standard screening in a patient with an imatinib responsive chronic myeloproliferative disease.
Curtis CE, Grand FH, Waghorn K, Sahoo TP, George J, Cross NC.
Leukemia. 2007b Aug;21(8):1839-41. Epub 2007 May 17.
PMID 17508004
ETV6 fusion genes in hematological malignancies: a review.
De Braekeleer E, Douet-Guilbert N, Morel F, Le Bris MJ, Basinko A, De Braekeleer M.
Leuk Res. 2012 Aug;36(8):945-61. doi: 10.1016/j.leukres.2012.04.010. Epub 2012 May 12. (REVIEW)
PMID 22578774
A fluorescence in situ hybridization study of TEL-AML1 fusion gene in B-cell acute lymphoblastic leukemia (1984-2001).
Douet-Guilbert N, Morel F, Le Bris MJ, Herry A, Le Calvez G, Marion V, Abgrall JF, Berthou C, De Braekeleer M.
Cancer Genet Cytogenet. 2003 Jul 15;144(2):143-7.
PMID 12850377
Fusion of ETV6 to neurotrophin-3 receptor TRKC in acute myeloid leukemia with t(12;15)(p13;q25).
Eguchi M, Eguchi-Ishimae M, Tojo A, Morishita K, Suzuki K, Sato Y, Kudoh S, Tanaka K, Setoyama M, Nagamura F, Asano S, Kamada N.
Blood. 1999 Feb 15;93(4):1355-63.
PMID 9949179
Screening for diverse PDGFRA or PDGFRB fusion genes is facilitated by generic quantitative reverse transcriptase polymerase chain reaction analysis.
Erben P, Gosenca D, Muller MC, Reinhard J, Score J, Del Valle F, Walz C, Mix J, Metzgeroth G, Ernst T, Haferlach C, Cross NC, Hochhaus A, Reiter A.
Haematologica. 2010 May;95(5):738-44. doi: 10.3324/haematol.2009.016345. Epub 2010 Jan 27.
PMID 20107158
ETV6-NTRK3--Trk-ing the primary event in human secretory breast cancer.
Euhus DM, Timmons CF, Tomlinson GE.
Cancer Cell. 2002 Nov;2(5):347-8. (REVIEW)
PMID 12450787
Chronic eosinophilic leukaemia with ETV6-NTRK3 fusion transcript in an elderly patient affected with pancreatic carcinoma.
Forghieri F, Morselli M, Potenza L, Maccaferri M, Pedrazzi L, Paolini A, Bonacorsi G, Artusi T, Giacobbi F, Corradini G, Barozzi P, Zucchini P, Marasca R, Narni F, Crescenzi B, Mecucci C, Falini B, Torelli G, Luppi M.
Eur J Haematol. 2011 Apr;86(4):352-5. doi: 10.1111/j.1600-0609.2011.01576.x.
PMID 21226763
Fusion of the TEL gene on 12p13 to the AML1 gene on 21q22 in acute lymphoblastic leukemia.
Golub TR, Barker GF, Bohlander SK, Hiebert SW, Ward DC, Bray-Ward P, Morgan E, Raimondi SC, Rowley JD, Gilliland DG.
Proc Natl Acad Sci U S A. 1995 May 23;92(11):4917-21.
PMID 7761424
Oligomerization of the ABL tyrosine kinase by the Ets protein TEL in human leukemia.
Golub TR, Goga A, Barker GF, Afar DE, McLaughlin J, Bohlander SK, Rowley JD, Witte ON, Gilliland DG.
Mol Cell Biol. 1996 Aug;16(8):4107-16.
PMID 8754809
TEL gene rearrangements in myeloid malignancy.
Golub TR.
Hematol Oncol Clin North Am. 1997 Dec;11(6):1207-20. (REVIEW)
PMID 9443053
A constitutively active SPTBN1-FLT3 fusion in atypical chronic myeloid leukemia is sensitive to tyrosine kinase inhibitors and immunotherapy.
Grand FH, Iqbal S, Zhang L, Russell NH, Chase A, Cross NC.
Exp Hematol. 2007 Nov;35(11):1723-7. Epub 2007 Aug 30.
PMID 17764812
Identification of an ETV6-ABL2 fusion transcript in combination with an ETV6 point mutation in a T-cell acute lymphoblastic leukaemia cell line.
Griesinger F, Janke A, Podleschny M, Bohlander SK.
Br J Haematol. 2002 Nov;119(2):454-8.
PMID 12406085
Recruitment of the nuclear receptor corepressor N-CoR by the TEL moiety of the childhood leukemia-associated TEL-AML1 oncoprotein.
Guidez F, Petrie K, Ford AM, Lu H, Bennett CA, MacGregor A, Hannemann J, Ito Y, Ghysdael J, Greaves M, Wiedemann LM, Zelent A.
Blood. 2000 Oct 1;96(7):2557-61.
PMID 11001911
Graft versus leukemia effect after haploidentical HSCT in a MLL-negative infant AML with HLXB9/ETV6 rearrangement.
Hauer J, Tosi S, Schuster FR, Harbott J, Kolb HJ, Borkhardt A.
Pediatr Blood Cancer. 2008 Apr;50(4):921-3.
PMID 17960638
Identification of a SRC-like tyrosine kinase gene, FRK, fused with ETV6 in a patient with acute myelogenous leukemia carrying a t(6;12)(q21;p13) translocation.
Hosoya N, Qiao Y, Hangaishi A, Wang L, Nannya Y, Sanada M, Kurokawa M, Chiba S, Hirai H, Ogawa S.
Genes Chromosomes Cancer. 2005 Mar;42(3):269-79.
PMID 15611931
A new ETV6/TEL partner gene, ARG (ABL-related gene or ABL2), identified in an AML-M3 cell line with a t(1;12)(q25;p13) translocation.
Iijima Y, Ito T, Oikawa T, Eguchi M, Eguchi-Ishimae M, Kamada N, Kishi K, Asano S, Sakaki Y, Sato Y.
Blood. 2000 Mar 15;95(6):2126-31.
PMID 10706884
Fusion of ETV6 to GOT1 in a case with myelodysplastic syndrome and t(10;12)(q24;p13).
Janssen H, Wlodarska I, Mecucci C, Hagemeijer A, Vandenberghe P, Marynen P, Cools J.
Haematologica. 2006 Jul;91(7):949-51. Epub 2006 Jun 1.
PMID 16757412
Myelodysplastic syndrome accompanied by basophilia and eosinophilia with t(5;12)(q31;p13).
Katsura Y, Suzukawa K, Nanmoku T, Nemoto N, Machino T, Obara N, Okoshi Y, Mukai HY, Hasegawa Y, Kojima H, Kawakami Y, Nagasawa T.
Cancer Genet Cytogenet. 2007 Oct 1;178(1):85-8.
PMID 17889716
Chronic phase of ETV6-ABL1 positive CML responds to imatinib.
Kawamata N, Dashti A, Lu D, Miller B, Koeffler HP, Schreck R, Moore S, Ogawa S.
Genes Chromosomes Cancer. 2008 Oct;47(10):919-21. doi: 10.1002/gcc.20593.
PMID 18615681
Insertion (12;9)(p13;q34q34): a cryptic rearrangement involving ABL1/ETV6 fusion in a patient with Philadelphia-negative chronic myeloid leukemia.
Kelly JC, Shahbazi N, Scheerle J, Jahn J, Suchen S, Christacos NC, Mowrey PN, Witt MH, Hostetter A, Meloni-Ehrig AM.
Cancer Genet Cytogenet. 2009 Jul;192(1):36-9. doi: 10.1016/j.cancergencyto.2009.02.012.
PMID 19480935
Chronic myelocytic leukemia with eosinophilia, t(9;12)(q34;p13), and ETV6-ABL gene rearrangement: case report and review of the literature.
Keung YK, Beaty M, Steward W, Jackle B, Pettnati M.
Cancer Genet Cytogenet. 2002 Oct 15;138(2):139-42. (REVIEW)
PMID 12505259
ETV6-NTRK3 gene fusions and trisomy 11 establish a histogenetic link between mesoblastic nephroma and congenital fibrosarcoma.
Knezevich SR, Garnett MJ, Pysher TJ, Beckwith JB, Grundy PE, Sorensen PH.
Cancer Res. 1998 Nov 15;58(22):5046-8.
PMID 9823307
Characterization of a newly identified ETV6-NTRK3 fusion transcript in acute myeloid leukemia.
Kralik JM, Kranewitter W, Boesmueller H, Marschon R, Tschurtschenthaler G, Rumpold H, Wiesinger K, Erdel M, Petzer AL, Webersinke G.
Diagn Pathol. 2011 Mar 15;6:19. doi: 10.1186/1746-1596-6-19.
PMID 21401966
A rare case of acute myeloid leukemia with a CHIC2-ETV6 fusiongen and multiple other molecular aberrations.
Kuchenbauer F, Schoch C, Holler E, Haferlach T, Hiddemann W, Schnittger S.
Leukemia. 2005 Dec;19(12):2366-8.
PMID 16224488
Constitutive kinase activation of the TEL-Syk fusion gene in myelodysplastic syndrome with t(9;12)(q22;p12).
Kuno Y, Abe A, Emi N, Iida M, Yokozawa T, Towatari M, Tanimoto M, Saito H.
Blood. 2001 Feb 15;97(4):1050-5.
PMID 11159536
Clonal eosinophils are a morphologic hallmark of ETV6/ABL1 positive acute myeloid leukemia.
La Starza R, Trubia M, Testoni N, Ottaviani E, Belloni E, Crescenzi B, Martelli M, Flandrin G, Pelicci PG, Mecucci C.
Haematologica. 2002 Aug;87(8):789-94.
PMID 12161353
A TEL-JAK2 fusion protein with constitutive kinase activity in human leukemia.
Lacronique V, Boureux A, Valle VD, Poirel H, Quang CT, Mauchauffe M, Berthou C, Lessard M, Berger R, Ghysdael J, Bernard OA.
Science. 1997 Nov 14;278(5341):1309-12.
PMID 9360930
Frequencies of ETV6-RUNX1 fusion and hyperdiploidy in pediatric acute lymphoblastic leukemia are lower in far east than west.
Liang DC, Shih LY, Yang CP, Hung IJ, Liu HC, Jaing TH, Yeh TC, Liang ST, Chang CL, Lee EH, Lai CL, Chang WH.
Pediatr Blood Cancer. 2010 Sep;55(3):430-3. doi: 10.1002/pbc.22628.
PMID 20658612
Detection of dual TEL-ABL transcripts and a Tel-Abl protein containing phosphotyrosine in a chronic myeloid leukemia patient.
Lin H, Guo JQ, Andreeff M, Arlinghaus RB.
Leukemia. 2002 Feb;16(2):294-7.
PMID 11840298
TEL is a sequence-specific transcriptional repressor.
Lopez RG, Carron C, Oury C, Gardellin P, Bernard O, Ghysdael J.
J Biol Chem. 1999 Oct 15;274(42):30132-8.
PMID 10514502
The utility of spectral karyotyping in the cytogenetic analysis of newly diagnosed pediatric acute lymphoblastic leukemia.
Lu XY, Harris CP, Cooley L, Margolin J, Steuber PC, Sheldon M, Rao PH, Lau CC.
Leukemia. 2002 Nov;16(11):2222-7.
PMID 12399965
A doctor(s) dilemma: ETV6-ABL1 positive acute lymphoblastic leukaemia.
Malone A, Langabeer S, O'Marcaigh A, Storey L, Bacon CL, Smith OP.
Br J Haematol. 2010 Oct;151(1):101-2. doi: 10.1111/j.1365-2141.2010.08323.x. Epub 2010 Jul 7.
PMID 20618334
Proteins of the ETS family with transcriptional repressor activity.
Mavrothalassitis G, Ghysdael J.
Oncogene. 2000 Dec 18;19(55):6524-32. (REVIEW)
PMID 11175368
Broad molecular screening of an unclassifiable myeloproliferative disorder reveals an unexpected ETV6/ABL1 fusion transcript.
Meyer-Monard S, Muhlematter D, Streit A, Chase AJ, Gratwohl A, Cross NC, Jotterand M, Tichelli A.
Leukemia. 2005 Jun;19(6):1096-9.
PMID 15789067
A fifteen-year cytogenetic remission following interferon treatment in a patient with an indolent ETV6-ABL positive myeloproliferative syndrome.
Mozziconacci MJ, Sainty D, Chabannon C.
Am J Hematol. 2007 Jul;82(7):688-9.
PMID 17366548
t(5;12)(q23-31;p13) with ETV6-ACSL6 gene fusion in polycythemia vera.
Murati A, Adelaide J, Gelsi-Boyer V, Etienne A, Remy V, Fezoui H, Sainty D, Xerri L, Vey N, Olschwang S, Birnbaum D, Chaffanet M, Mozziconacci MJ.
Leukemia. 2006 Jun;20(6):1175-8.
PMID 16572202
A novel cryptic translocation t(12;17)(p13;p12-p13) in a secondary acute myeloid leukemia results in a fusion of the ETV6 gene and the antisense strand of the PER1 gene.
Murga Penas EM, Cools J, Algenstaedt P, Hinz K, Seeger D, Schafhausen P, Schilling G, Marynen P, Hossfeld DK, Dierlamm J.
Genes Chromosomes Cancer. 2003 May;37(1):79-83.
PMID 12661008
Cloning and characterization of the novel chimeric gene TEL/PTPRR in acute myelogenous leukemia with inv(12)(p13q13).
Nakamura F, Nakamura Y, Maki K, Sato Y, Mitani K.
Cancer Res. 2005 Aug 1;65(15):6612-21.
PMID 16061641
Expression of the TEL/EVI1 fusion transcript in a patient with chronic myelogenous leukemia with t(3;12)(q26;p13).
Nakamura Y, Nakazato H, Sato Y, Furusawa S, Mitani K.
Am J Hematol. 2002 Jan;69(1):80-2.
PMID 11835339
TEL/MN1 fusion in a de novo acute myeloid leukaemia-M2 patient who showed strong resistance to treatment.
Nakazato H, Shiozaki H, Zhou M, Nakatsu M, Motoji T, Mizoguchi H, Miyawaki S, Sato Y.
Br J Haematol. 2001 Jun;113(4):1079-81.
PMID 11442509
Myeloproliferative disorder with eosinophilia and ETV6-ABL gene rearrangement: efficacy of second-generation tyrosine kinase inhibitors.
Nand R, Bryke C, Kroft SH, Divgi A, Bredeson C, Atallah E.
Leuk Res. 2009 Aug;33(8):1144-6. doi: 10.1016/j.leukres.2009.03.011. Epub 2009 Apr 25.
PMID 19394693
Detection of ETV6/MDS1/Evi-1 chimeric transcripts in a patient with acute myelocytic leukemia and t(3;12)(q26;p13)
Nishimura Y, Wada H, Mori A, Takatsuka H, Tamura A, Fujimori Y, Okamoto T, Takemoto Y, Kakishita E.
Int J Hematol. 2000 Jul;72(1):108-9.
PMID 10979219
MN1-ETV6 fusion gene arising from MDS with 5q-.
Nofrini V, Berchicci L, La Starza R, Gorello P, Di Giacomo D, Arcioni F, Pierini V, Crescenzi B, Romoli S, Matteucci C, Mecucci C.
Leuk Res. 2011 Jul;35(7):e123-6. doi: 10.1016/j.leukres.2011.03.019. Epub 2011 May 19.
PMID 21600651
Transient response to imatinib mesylate (STI571) in a patient with the ETV6-ABL t(9;12) translocation.
O'Brien SG, Vieira SA, Connors S, Bown N, Chang J, Capdeville R, Melo JV.
Blood. 2002 May 1;99(9):3465-7.
PMID 11964320
A novel gene, MDS2, is fused to ETV6/TEL in a t(1;12)(p36.1;p13) in a patient with myelodysplastic syndrome.
Odero MD, Vizmanos JL, Roman JP, Lahortiga I, Panizo C, Calasanz MJ, Zeleznik-Le NJ, Rowley JD, Novo FJ.
Genes Chromosomes Cancer. 2002 Sep;35(1):11-9.
PMID 12203785
ETV6-ARNT fusion in a patient with childhood T lymphoblastic leukemia.
Otsubo K, Kanegane H, Eguchi M, Eguchi-Ishimae M, Tamura K, Nomura K, Abe A, Ishii E, Miyawaki T.
Cancer Genet Cytogenet. 2010 Oct 1;202(1):22-6. doi: 10.1016/j.cancergencyto.2010.07.121.
PMID 20804916
Fusion of ETV6 with an intronic sequence of the BAZ2A gene in a paediatric pre-B acute lymphoblastic leukaemia with a cryptic chromosome 12 rearrangement.
Panagopoulos I, Strombeck B, Isaksson M, Heldrup J, Olofsson T, Johansson B.
Br J Haematol. 2006 May;133(3):270-5.
PMID 16643428
The novel activation of ABL by fusion to an ets-related gene, TEL.
Papadopoulos P, Ridge SA, Boucher CA, Stocking C, Wiedemann LM.
Cancer Res. 1995 Jan 1;55(1):34-8.
PMID 7805037
Three-way complex translocations in infant acute myeloid leukemia with t(7;12)(q36;p13): the incidence and correlation of a HLXB9 overexpression.
Park J, Kim M, Lim J, Kim Y, Han K, Lee J, Chung NG, Cho B, Kim HK.
Cancer Genet Cytogenet. 2009 Jun;191(2):102-5. doi: 10.1016/j.cancergencyto.2009.02.007.
PMID 19446746
Low incidence of TEL/AML1 fusion and TEL deletion in Korean childhood acute leukemia by extra-signal fluorescence in situ hybridization.
Park KU, She CJ, Shin HY, Ahn HS, Kim CJ, Cho BK, Cho HI, Lee DS.
Cancer Genet Cytogenet. 2001 Apr 1;126(1):73-7.
PMID 11343784
Fusion of TEL, the ETS-variant gene 6 (ETV6), to the receptor-associated kinase JAK2 as a result of t(9;12) in a lymphoid and t(9;15;12) in a myeloid leukemia.
Peeters P, Raynaud SD, Cools J, Wlodarska I, Grosgeorge J, Philip P, Monpoux F, Van Rompaey L, Baens M, Van den Berghe H, Marynen P.
Blood. 1997a Oct 1;90(7):2535-40.
PMID 9326218
Fusion of ETV6 to MDS1/EVI1 as a result of t(3;12)(q26;p13) in myeloproliferative disorders.
Peeters P, Wlodarska I, Baens M, Criel A, Selleslag D, Hagemeijer A, Van den Berghe H, Marynen P.
Cancer Res. 1997b Feb 15;57(4):564-9.
PMID 9044825
ETV6-ABL1-positive "chronic myeloid leukemia": clinical and molecular response to tyrosine kinase inhibition.
Perna F, Abdel-Wahab O, Levine RL, Jhanwar SC, Imada K, Nimer SD.
Haematologica. 2011 Feb;96(2):342-3. doi: 10.3324/haematol.2010.036673. Epub 2010 Dec 29.
PMID 21193423
Identification of a novel fusion gene, TTL, fused to ETV6 in acute lymphoblastic leukemia with t(12;13)(p13;q14), and its implication in leukemogenesis.
Qiao Y, Ogawa S, Hangaishi A, Yuji K, Izutsu K, Kunisato A, Imai Y, Wang L, Hosoya N, Nannya Y, Sato Y, Maki K, Mitani K, Hirai H.
Leukemia. 2003 Jun;17(6):1112-20.
PMID 12764377
Ectopic expression of the homeobox gene Cdx2 is the transforming event in a mouse model of t(12;13)(p13;q12) acute myeloid leukemia.
Rawat VP, Cusan M, Deshpande A, Hiddemann W, Quintanilla-Martinez L, Humphries RK, Bohlander SK, Feuring-Buske M, Buske C.
Proc Natl Acad Sci U S A. 2004 Jan 20;101(3):817-22. Epub 2004 Jan 12.
PMID 14718672
Fluorescence in situ hybridization analysis of t(3; 12)(q26; p13): a recurring chromosomal abnormality involving the TEL gene (ETV6) in myelodysplastic syndromes.
Raynaud SD, Baens M, Grosgeorge J, Rodgers K, Reid CD, Dainton M, Dyer M, Fuzibet JG, Gratecos N, Taillan B, Ayraud N, Marynen P.
Blood. 1996 Jul 15;88(2):682-9.
PMID 8695816
The t(12;21) of acute lymphoblastic leukemia results in a tel-AML1 gene fusion.
Romana SP, Mauchauffe M, Le Coniat M, Chumakov I, Le Paslier D, Berger R, Bernard OA.
Blood. 1995a Jun 15;85(12):3662-70.
PMID 7780150
High frequency of t(12;21) in childhood B-lineage acute lymphoblastic leukemia.
Romana SP, Poirel H, Leconiat M, Flexor MA, Mauchauffe M, Jonveaux P, Macintyre EA, Berger R, Bernard OA.
Blood. 1995b Dec 1;86(11):4263-9.
PMID 7492786
The role of TEL fusion genes in pediatric leukemias.
Rubnitz JE, Pui CH, Downing JR.
Leukemia. 1999 Jan;13(1):6-13. (REVIEW)
PMID 10049061
The t(1;12)(q21;p13) translocation of human acute myeloblastic leukemia results in a TEL-ARNT fusion.
Salomon-Nguyen F, Della-Valle V, Mauchauffe M, Busson-Le Coniat M, Ghysdael J, Berger R, Bernard OA.
Proc Natl Acad Sci U S A. 2000 Jun 6;97(12):6757-62.
PMID 10829078
TEL and KIP1 define the smallest region of deletions on 12p13 in hematopoietic malignancies.
Sato Y, Suto Y, Pietenpol J, Golub TR, Gilliland DG, Davis EM, Le Beau MM, Roberts JM, Vogelstein B, Rowley JD, et al.
Blood. 1995 Aug 15;86(4):1525-33.
PMID 7632960
ETV6 mutations and loss in AML-M0.
Silva FP, Morolli B, Storlazzi CT, Zagaria A, Impera L, Klein B, Vrieling H, Kluin-Nelemans HC, Giphart-Gassler M.
Leukemia. 2008 Aug;22(8):1639-43. doi: 10.1038/leu.2008.34. Epub 2008 Feb 28.
PMID 18305557
Cytogenetic and molecular heterogeneity of 7q36/12p13 rearrangements in childhood AML.
Simmons HM, Oseth L, Nguyen P, O'Leary M, Conklin KF, Hirsch B.
Leukemia. 2002 Dec;16(12):2408-16.
PMID 12454746
t(7;12)(q36;p13) and t(7;12)(q32;p13)--translocations involving ETV6 in children 18 months of age or younger with myeloid disorders.
Slater RM, von Drunen E, Kroes WG, Weghuis DO, van den Berg E, Smit EM, van der Does-van den Berg A, van Wering E, Hahlen K, Carroll AJ, Raimondi SC, Beverloo HB.
Leukemia. 2001 Jun;15(6):915-20. (REVIEW)
PMID 11417477
A gene amplified in a transformed mouse cell line undergoes complex transcriptional processing and encodes a nuclear protein.
Snyder LC, Trusko SP, Freeman N, Eshleman JR, Fakharzadeh SS, George DL.
J Biol Chem. 1988 Nov 15;263(32):17150-8.
PMID 3182840
PAX5/ETV6 fusion defines cytogenetic entity dic(9;12)(p13;p13).
Strehl S, Konig M, Dworzak MN, Kalwak K, Haas OA.
Leukemia. 2003 Jun;17(6):1121-3.
PMID 12764378
ETV6-NCOA2: a novel fusion gene in acute leukemia associated with coexpression of T-lymphoid and myeloid markers and frequent NOTCH1 mutations.
Strehl S, Nebral K, Konig M, Harbott J, Strobl H, Ratei R, Struski S, Bielorai B, Lessard M, Zimmermann M, Haas OA, Izraeli S.
Clin Cancer Res. 2008 Feb 15;14(4):977-83. doi: 10.1158/1078-0432.CCR-07-4022.
PMID 18281529
ETV6/GOT1 fusion in a case of t(10;12)(q24;p13)-positive myelodysplastic syndrome.
Struski S, Mauvieux L, Gervais C, Helias C, Liu KL, Lessard M.
Haematologica. 2008 Mar;93(3):467-8. doi: 10.3324/haematol.11988.
PMID 18310541
A t(6;12)(q23;p13) results in the fusion of ETV6 to a novel gene, STL, in a B-cell ALL cell line.
Suto Y, Sato Y, Smith SD, Rowley JD, Bohlander SK.
Genes Chromosomes Cancer. 1997 Apr;18(4):254-68.
PMID 9087565
Direct activation of STAT5 by ETV6-LYN fusion protein promotes induction of myeloproliferative neoplasm with myelofibrosis.
Takeda Y, Nakaseko C, Tanaka H, Takeuchi M, Yui M, Saraya A, Miyagi S, Wang C, Tanaka S, Ohwada C, Sakaida E, Yamaguchi N, Yokote K, Hennighausen L, Iwama A.
Br J Haematol. 2011 Jun;153(5):589-98. doi: 10.1111/j.1365-2141.2011.08663.x. Epub 2011 Apr 15.
PMID 21492125
MNX1-ETV6 fusion gene in an acute megakaryoblastic leukemia and expression of the MNX1 gene in leukemia and normal B cell lines.
Taketani T, Taki T, Sako M, Ishii T, Yamaguchi S, Hayashi Y.
Cancer Genet Cytogenet. 2008 Oct 15;186(2):115-9. doi: 10.1016/j.cancergencyto.2008.06.009.
PMID 18940475
TEL is one of the targets for deletion on 12p in many cases of childhood B-lineage acute lymphoblastic leukemia.
Takeuchi S, Seriu T, Bartram CR, Golub TR, Reiter A, Miyoshi I, Gilliland DG, Koeffler HP.
Leukemia. 1997 Aug;11(8):1220-3.
PMID 9264373
Identification of a novel TEL-Lyn fusion gene in primary myelofibrosis.
Tanaka H, Takeuchi M, Takeda Y, Sakai S, Abe D, Ohwada C, Sakaida E, Shimizu N, Saito Y, Miyagi S, Iwama A, Nakaseko C.
Leukemia. 2010 Jan;24(1):197-200. doi: 10.1038/leu.2009.167. Epub 2009 Aug 27.
PMID 19710703
Molecular and cytogenetic characterization of a novel rearrangement involving chromosomes 9, 12, and 17 resulting in ETV6 (TEL) and ABL fusion.
Tirado CA, Sebastian S, Moore JO, Gong JZ, Goodman BK.
Cancer Genet Cytogenet. 2005 Feb;157(1):74-7.
PMID 15676152
Expression of the ETV6-NTRK3 gene fusion as a primary event in human secretory breast carcinoma.
Tognon C, Knezevich SR, Huntsman D, Roskelley CD, Melnyk N, Mathers JA, Becker L, Carneiro F, MacPherson N, Horsman D, Poremba C, Sorensen PH.
Cancer Cell. 2002 Nov;2(5):367-76.
PMID 12450792
Chronic idiopathic myelofibrosis expressing a novel type of TEL-PDGFRB chimaera responded to imatinib mesylate therapy.
Tokita K, Maki K, Tadokoro J, Nakamura Y, Arai Y, Sasaki K, Eguchi-Ishimae M, Eguchi M, Mitani K.
Leukemia. 2007 Jan;21(1):190-2. Epub 2006 Nov 23.
PMID 17122866
Identification of new partner chromosomes involved in fusions with the ETV6 (TEL) gene in hematologic malignancies.
Tosi S, Giudici G, Mosna G, Harbott J, Specchia G, Grosveld G, Privitera E, Kearney L, Biondi A, Cazzaniga G.
Genes Chromosomes Cancer. 1998 Mar;21(3):223-9.
PMID 9523197
t(7;12)(q36;p13), a new recurrent translocation involving ETV6 in infant leukemia.
Tosi S, Harbott J, Teigler-Schlegel A, Haas OA, Pirc-Danoewinata H, Harrison CJ, Biondi A, Cazzaniga G, Kempski H, Scherer SW, Kearney L.
Genes Chromosomes Cancer. 2000 Dec;29(4):325-32. (REVIEW)
PMID 11066076
Heterogeneity of the 7q36 breakpoints in the t(7;12) involving ETV6 in infant leukemia.
Tosi S, Hughes J, Scherer SW, Nakabayashi K, Harbott J, Haas OA, Cazzaniga G, Biondi A, Kempski H, Kearney L.
Genes Chromosomes Cancer. 2003 Oct;38(2):191-200.
PMID 12939747
Modeling first-hit functions of the t(12;21) TEL-AML1 translocation in mice.
Tsuzuki S, Seto M, Greaves M, Enver T.
Proc Natl Acad Sci U S A. 2004 Jun 1;101(22):8443-8. Epub 2004 May 20.
PMID 15155899
Pediatric malignancies provide unique cancer therapy targets.
Uren A, Toretsky JA.
Curr Opin Pediatr. 2005 Feb;17(1):14-9. (REVIEW)
PMID 15659957
Molecular cytogenetic and clinical findings in ETV6/ABL1-positive leukemia.
Van Limbergen H, Beverloo HB, van Drunen E, Janssens A, Hahlen K, Poppe B, Van Roy N, Marynen P, De Paepe A, Slater R, Speleman F.
Genes Chromosomes Cancer. 2001 Mar;30(3):274-82.
PMID 11170285
FLT3 is fused to ETV6 in a myeloproliferative disorder with hypereosinophilia and a t(12;13)(p13;q12) translocation.
Vu HA, Xinh PT, Masuda M, Motoji T, Toyoda A, Sakaki Y, Tokunaga K, Sato Y.
Leukemia. 2006 Aug;20(8):1414-21. Epub 2006 Jun 8.
PMID 16761019
Response of ETV6-FLT3-positive myeloid/lymphoid neoplasm with eosinophilia to inhibitors of FMS-like tyrosine kinase 3.
Walz C, Erben P, Ritter M, Bloor A, Metzgeroth G, Telford N, Haferlach C, Haferlach T, Gesk S, Score J, Hofmann WK, Hochhaus A, Cross NC, Reiter A.
Blood. 2011 Aug 25;118(8):2239-42. doi: 10.1182/blood-2011-03-343426. Epub 2011 Jun 24.
PMID 21705501
Yolk sac angiogenic defect and intra-embryonic apoptosis in mice lacking the Ets-related factor TEL.
Wang LC, Kuo F, Fujiwara Y, Gilliland DG, Golub TR, Orkin SH.
EMBO J. 1997 Jul 16;16(14):4374-83.
PMID 9250681
The TEL/ETV6 gene is required specifically for hematopoiesis in the bone marrow.
Wang LC, Swat W, Fujiwara Y, Davidson L, Visvader J, Kuo F, Alt FW, Gilliland DG, Golub TR, Orkin SH.
Genes Dev. 1998 Aug 1;12(15):2392-402.
PMID 9694803
t(5;12)(q31;p12). A clinical entity with features of both myeloid leukemia and chronic myelomonocytic leukemia.
Wessels JW, Fibbe WE, van der Keur D, Landegent JE, van der Plas DC, den Ottolander GJ, Roozendaal KJ, Beverstock GC.
Cancer Genet Cytogenet. 1993 Jan;65(1):7-11. (REVIEW)
PMID 8431918
Fluorescence in situ hybridization characterization of new translocations involving TEL (ETV6) in a wide spectrum of hematologic malignancies.
Wlodarska I, La Starza R, Baens M, Dierlamm J, Uyttebroeck A, Selleslag D, Francine A, Mecucci C, Hagemeijer A, Van den Berghe H, Marynen P.
Blood. 1998 Feb 15;91(4):1399-406.
PMID 9454771
Fusion of ETV6 to fibroblast growth factor receptor 3 in peripheral T-cell lymphoma with a t(4;12)(p16;p13) chromosomal translocation.
Yagasaki F, Wakao D, Yokoyama Y, Uchida Y, Murohashi I, Kayano H, Taniwaki M, Matsuda A, Bessho M.
Cancer Res. 2001 Dec 1;61(23):8371-4.
PMID 11731410
TEL/AML1-positive patients lacking TEL exon 5 resemble canonical TEL/AML1 cases.
Zaliova M, Meyer C, Cario G, Vaskova M, Marschalek R, Stary J, Zuna J, Trka J.
Pediatr Blood Cancer. 2011 Feb;56(2):217-25. doi: 10.1002/pbc.22686. Epub 2010 Oct 22.
PMID 21157892
Role of the TEL-AML1 fusion gene in the molecular pathogenesis of childhood acute lymphoblastic leukaemia.
Zelent A, Greaves M, Enver T.
Oncogene. 2004 May 24;23(24):4275-83. (REVIEW)
PMID 15156184
Acute leukemias with ETV6/ABL1 (TEL/ABL) fusion: poor prognosis and prenatal origin.
Zuna J, Zaliova M, Muzikova K, Meyer C, Lizcova L, Zemanova Z, Brezinova J, Votava F, Marschalek R, Stary J, Trka J.
Genes Chromosomes Cancer. 2010 Oct;49(10):873-84. doi: 10.1002/gcc.20796.
PMID 20589932
High incidence of t(7;12)(q36;p13) in infant AML but not in infant ALL, with a dismal outcome and ectopic expression of HLXB9.
von Bergh AR, van Drunen E, van Wering ER, van Zutven LJ, Hainmann I, Lonnerholm G, Meijerink JP, Pieters R, Beverloo HB.
Genes Chromosomes Cancer. 2006 Aug;45(8):731-9.
PMID 16646086


This paper should be referenced as such :
Braekeleer E De, N Douet-Guilbert, Braekeleer M De
ETV6 (ets variant 6)
Atlas Genet Cytogenet Oncol Haematol. 2014;18(12):886-899.
Free journal version : [ pdf ]   [ DOI ]
History of this paper:
Romana, SP. ETV6 (ETS variant gene 6 (TEL oncogene)). Atlas Genet Cytogenet Oncol Haematol. 1999;3(4):181-182.
Knezevich, S. ETV6 (ETS variant gene 6 (TEL oncogene)). Atlas Genet Cytogenet Oncol Haematol. 2005;9(4):271-274.

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 109 ]
  t(9;12)(p24;p13) ETV6::JAK2
12p13 rearrangements (ETV6) in treatment related leukemia
12p rearrangements (ETV6) in ALL
12p abnormalities in myeloid malignancies
3q26 rearrangements (MECOM) in myeloid malignancies
8p11 myeloproliferative syndrome (FGFR1)
Chronic Eosinophilic Leukemia-Not Otherwise Specified (CEL-NOS)::Idiopathic Hypereosinophilic Syndrome (IHES)
Classification of myelodysplastic syndromes 2015
Classification of myelodysplasic syndromes 1999
Chronic Myelomonocytic Leukemia (CMML)
del(4)(q12q12) FIP1L1::PDGFRA
del(9p) in Acute Lymphoblastic Leukemia
dic(9;12)(p13;p13) PAX5::ETV6
dic(9;12)(p13;p12) PAX5::SLCO1B3
dic(9;20)(p11-13;q11) PAX5::Various
Early T-cell precursor acute lymphoblastic leukemia
ins(9;4)(q33;q12q25) CDK5RAP2::PDGFRA
ins(12;8)(p13;q11q21) ETV6::LYN
inv(12)(p13q15) ETV6::PTPRR
Mixed phenotype acute leukemia (MPAL)
Myeloid::Lymphoid neoplasms with abnormalities of PDGFRB
Pediatric T-Cell Acute Lymphoblastic Leukemia
12p rearrangements in CLL
t(1;7)(p36;p12) IKZF1::PRDM16
t(1;12)(q25;p13) ETV6::ABL2
t(1;12)(p36;p13) ETV6::MDS2
t(1;12)(p36;p13) ETV6::PRDM16
t(1;12)(q21;p13) ETV6::ARNT
t(1;21)(p32;q22) RUNX1::?
t(2;4)(p22;q12) STRN::PDGFRA
t(2;12)(q31;p13) ETV6::?
t(2;19)(p23;p13) TPM4::ALK
t(2;21)(p11;q22) RUNX1::?
t(3;7)(q26;q21) MECOM::CDK6
t(3;8)(q26;q24) PVT1::MECOM
t(3;12)(q26;p13) ETV6::MECOM::t(3;12)(q26;p13) ETV6::EVI1
t(4;10)(q12;p11) KIF5B::PDGFRA
t(4;11)(p12;q23) KMT2A::FRYL
t(4;12)(q12;p13) CHIC2::ETV6
t(4;12)(p16;p13) ETV6::FGFR3
t(4;12)(q12;p13) PDGFRA::ETV6
t(4;21)(q31;q22) RUNX1::?
t(5;9)(q14.1;p24) SSBP2::JAK2
t(5;12)(q33;p13) ETV6::PDGFRB
t(5;12)(p13;p13) NIPBL::ETV6
t(5;12)(q13;p13) ?::ETV6
t(5;12)(q31;p13) ETV6::ACSL6 in MDS,AML and AEL
t(5;12)(q33;p13) ERC1::PDGFRB
t(5;21)(q13;q22) RUNX1::?
t(6;12)(p21;p13) CCND3::ETV6 in lymphoid malignancies
t(6;12)(q22;p13) ETV6::FRK
t(6;21)(p22;q22) RUNX1-?
t(7;12)(q36;p13) MNX1::ETV6
t(7;12)(q34;p13) TRB::CCND2::t(12;14)(p13;q11) TRA or TRD::CCND2
t(8;12)(q13;p13) ETV6::NCOA2
t(9;12)(q22;p13) ETV6::SYK
t(10;12)(q24;p13) ETV6::GOT1
t(12;12)(p13;q13) ETV6::BAZ2A
t(12;13)(p12;q12-14) ETV6::CDX2
t(12;13)(p13;q12) ETV6::FLT3
t(12;13)(p13;q14) LIN00598::ETV6
t(12;14)(p13;q32) IGH::ETV6
t(2;12)(p12;p13) IGK::CCND2::t(12;14)(p13;q32) IGH::CCND2::t(12;22)(p13;q11) IGL::CCND2
t(12;15)(p13;q25) ETV6::NTRK3 in Hematological malignancies
t(12;17)(p13;p13) ETV6::PER1
t(12;17)(p13;q11-21) in ALL
t(12;18)(p13;q12) ETV6::SETBP1
t(12;21)(p13;q22) ETV6::RUNX1
t(12;21)(q24;q22) RUNX1::?
t(12;22)(p13;q12) MN1::ETV6
t(14;19)(q32;p13) IGH::EPOR::t(14;19)(q32;p13) IGH::BRD4 ?
t(14;21)(q22;q22) RUNX1::?
t(15;21)(q22;q22) RUNX1::?
t(20;21)(q13;q22) RUNX1::?
t(9;12)(q34;p13) ETV6::ABL1
T-lineage acute lymphoblastic leukemia (T-ALL)
Therapy-Related Hematopoietic Neoplasia
t(1;12)(q25;p13) ETV6::QSOX1
t(1;12)(q42;p13) ETV6::NID1
t(2;12)(p16;p13) MSH6::ETV6
t(3;12)(p22;p13) ETV6::CTNNB1
t(3;12)(q12;p13) SENP7::ETV6
t(5;12)(q33;p13) ETV6::EBF1
t(6;12)(q22-23;p13) STL::ETV6
t(6;12)(q22;p13) ETV6::RNF217
t(7;12)(p12;p13) IKZF1::ETV6
t(7;12)(p14;p13) ETV6::ANLN
t(7;12)(p14;p13) ETV6::ELMO1
t(8;12)(q22;p13) ETV6::STK3
t(10;12)(q24;p13) PDZD7::ETV6
t(11;12)(q12;p13) ETV6::LPXN
t(12;12)(p12;p13) ETV6::PTPRO
t(12;12)(p13;p13) ETV6::BCL2L14
t(12;12)(p13;p13) ETV6::BORCS5
t(12;12)(p13;p13) ETV6::CDKN1B
t(12;12)(p13;q13) ETV6::PMEL
t(12;12)(p13;q24) ETV6::CDK2AP1
t(12;15)(p13;q22) ETV6::RNU6-19P
t(12;16)(p13;p13) ETV6::CREBBP
t(12;17)(p13;q21) ETV6::RARA
t(12;22)(p13;q12) ETV6::EMID1
t(2;12)(q33;p13) ETV6::INO80D
+16 or trisomy 16 (solely)

External links


HGNC (Hugo)ETV6   3495
LRG (Locus Reference Genomic)LRG_609
Atlas Explorer : (Salamanque)ETV6
Entrez_Gene (NCBI)ETV6    ETS variant transcription factor 6
GeneCards (Weizmann)ETV6
Ensembl hg19 (Hinxton)ENSG00000139083 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000139083 [Gene_View]  ENSG00000139083 [Sequence]  chr12:11649674-11895377 [Contig_View]  ETV6 [Vega]
ICGC DataPortalENSG00000139083
TCGA cBioPortalETV6
AceView (NCBI)ETV6
Genatlas (Paris)ETV6
SOURCE (Princeton)ETV6
Genetics Home Reference (NIH)ETV6
Genomic and cartography
GoldenPath hg38 (UCSC)ETV6  -     chr12:11649674-11895377 +  12p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ETV6  -     12p13.2   [Description]    (hg19-Feb_2009)
GoldenPathETV6 - 12p13.2 [CytoView hg19]  ETV6 - 12p13.2 [CytoView hg38]
Genome Data Viewer NCBIETV6 [Mapview hg19]  
OMIM600618   601626   616216   
Gene and transcription
Genbank (Entrez)AA205762 AA452592 AI660081 AK289441 AV722693
RefSeq transcript (Entrez)NM_001987
Consensus coding sequences : CCDS (NCBI)ETV6
Gene ExpressionETV6 [ NCBI-GEO ]   ETV6 [ EBI - ARRAY_EXPRESS ]   ETV6 [ SEEK ]   ETV6 [ MEM ]
Gene Expression Viewer (FireBrowse)ETV6 [ Firebrowse - Broad ]
GenevisibleExpression of ETV6 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2120
GTEX Portal (Tissue expression)ETV6
Human Protein AtlasENSG00000139083-ETV6 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP41212   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP41212  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP41212
Domaine pattern : Prosite (Expaxy)ETS_DOMAIN_2 (PS00346)    ETS_DOMAIN_3 (PS50061)    PNT (PS51433)   
Domains : Interpro (EBI)Ets_dom    Pointed_dom    SAM/pointed_sf    WH-like_DNA-bd_sf    WH_DNA-bd_sf   
Domain families : Pfam (Sanger)Ets (PF00178)    SAM_PNT (PF02198)   
Domain families : Pfam (NCBI)pfam00178    pfam02198   
Domain families : Smart (EMBL)ETS (SM00413)  SAM_PNT (SM00251)  
Conserved Domain (NCBI)ETV6
PDB (RSDB)1JI7    1LKY    2DAO    2QAR    2QB0    2QB1    5L0P   
PDB Europe1JI7    1LKY    2DAO    2QAR    2QB0    2QB1    5L0P   
PDB (PDBSum)1JI7    1LKY    2DAO    2QAR    2QB0    2QB1    5L0P   
PDB (IMB)1JI7    1LKY    2DAO    2QAR    2QB0    2QB1    5L0P   
Structural Biology KnowledgeBase1JI7    1LKY    2DAO    2QAR    2QB0    2QB1    5L0P   
SCOP (Structural Classification of Proteins)1JI7    1LKY    2DAO    2QAR    2QB0    2QB1    5L0P   
CATH (Classification of proteins structures)1JI7    1LKY    2DAO    2QAR    2QB0    2QB1    5L0P   
AlphaFold pdb e-kbP41212   
Human Protein Atlas [tissue]ENSG00000139083-ETV6 [tissue]
Protein Interaction databases
IntAct (EBI)P41212
Ontologies - Pathways
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  negative regulation of transcription by RNA polymerase II  chromatin  RNA polymerase II transcription regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  DNA-binding transcription factor activity  protein binding  nucleus  nucleolus  cytosol  cytosol  plasma membrane  regulation of transcription by RNA polymerase II  vitellogenesis  protein domain specific binding  neurogenesis  cell differentiation  positive regulation of transcription by RNA polymerase II  hematopoietic stem cell proliferation  mesenchymal cell apoptotic process  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  negative regulation of transcription by RNA polymerase II  chromatin  RNA polymerase II transcription regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  DNA-binding transcription factor activity  protein binding  nucleus  nucleolus  cytosol  cytosol  plasma membrane  regulation of transcription by RNA polymerase II  vitellogenesis  protein domain specific binding  neurogenesis  cell differentiation  positive regulation of transcription by RNA polymerase II  hematopoietic stem cell proliferation  mesenchymal cell apoptotic process  
NDEx NetworkETV6
Atlas of Cancer Signalling NetworkETV6
Wikipedia pathwaysETV6
Orthology - Evolution
GeneTree (enSembl)ENSG00000139083
Phylogenetic Trees/Animal Genes : TreeFamETV6
Homologs : HomoloGeneETV6
Homology/Alignments : Family Browser (UCSC)ETV6
Gene fusions - Rearrangements
Fusion : MitelmanADAMTS16::ETV6 [5p15.32/12p13.2]  
Fusion : MitelmanBCL2L14::ETV6 [12p13.2/12p13.2]  
Fusion : MitelmanCHIC2::ETV6 [4q12/12p13.2]  
Fusion : MitelmanEMP1::ETV6 [12p13.1/12p13.2]  
Fusion : MitelmanETV6::ABL1 [12p13.2/9q34.12]  
Fusion : MitelmanETV6::ABL2 [12p13.2/1q25.2]  
Fusion : MitelmanETV6::ACSL6 [12p13.2/5q31.1]  
Fusion : MitelmanETV6::ARNT [12p13.2/1q21.3]  
Fusion : MitelmanETV6::BAZ2A [12p13.2/12q13.3]  
Fusion : MitelmanETV6::CDX2 [12p13.2/13q12.2]  
Fusion : MitelmanETV6::FGFR3 [12p13.2/4p16.3]  
Fusion : MitelmanETV6::FLT3 [12p13.2/13q12.2]  
Fusion : MitelmanETV6::FRK [12p13.2/6q22.1]  
Fusion : MitelmanETV6::GOT1 [12p13.2/10q24.2]  
Fusion : MitelmanETV6::INO80D [12p13.2/2q33.3]  
Fusion : MitelmanETV6::ITPR2 [12p13.2/12p12.1]  
Fusion : MitelmanETV6::JAK2 [12p13.2/9p24.1]  
Fusion : MitelmanETV6::MDS2 [12p13.2/1p36.11]  
Fusion : MitelmanETV6::MECOM [12p13.2/3q26.2]  
Fusion : MitelmanETV6::NCOA2 [12p13.2/8q13.3]  
Fusion : MitelmanETV6::NTRK3 [12p13.2/15q25.3]  
Fusion : MitelmanETV6::PDGFRA [12p13.2/4q12]  
Fusion : MitelmanETV6::PDGFRB [12p13.2/5q32]  
Fusion : MitelmanETV6::PER1 [12p13.2/17p13.1]  
Fusion : MitelmanETV6::PLEKHG6 [12p13.2/12p13.31]  
Fusion : MitelmanETV6::PRDM16 [12p13.2/1p36.32]  
Fusion : MitelmanETV6::PTPRR [12p13.2/12q15]  
Fusion : MitelmanETV6::RNF217-AS1 [12p13.2/6q22.31]  
Fusion : MitelmanETV6::RUNX1 [12p13.2/21q22.12]  
Fusion : MitelmanETV6::SYK [12p13.2/9q22.2]  
Fusion : MitelmanETV6::YTHDF2 [12p13.2/1p35.3]  
Fusion : MitelmanFLT3::ETV6 [13q12.2/12p13.2]  
Fusion : MitelmanIGHA2::ETV6 [14q32.33/12p13.2]  
Fusion : MitelmanIGH::ETV6 [14q32.33/12p13.2]  
Fusion : MitelmanMN1::ETV6 [22q12.1/12p13.2]  
Fusion : MitelmanMNX1::ETV6 [7q36.3/12p13.2]  
Fusion : MitelmanNTRK3::ETV6 [15q25.3/12p13.2]  
Fusion : MitelmanPAX5::ETV6 [9p13.2/12p13.2]  
Fusion : COSMICETV6 [12p13.2]  -  ABL1 [9q34.12]  [fusion_2362]  [fusion_2364]  [fusion_2366]  
Fusion : COSMICETV6 [12p13.2]  -  ITPR2 [12p11.23]  [fusion_679]  
Fusion : COSMICETV6 [12p13.2]  -  JAK2 [9p24.1]  [fusion_1066]  [fusion_1067]  [fusion_1068]  [fusion_498]  [fusion_989]  [fusion_993]  [fusion_994]  
Fusion : COSMICETV6 [12p13.2]  -  MN1 [22q12.1]  [fusion_2403]  [fusion_2406]  
Fusion : COSMICETV6 [12p13.2]  -  NTRK3 [15q25.3]  [fusion_1534]  [fusion_1536]  [fusion_495]  [fusion_571]  [fusion_823]  
Fusion : COSMICETV6 [12p13.2]  -  PDGFRB [5q32]  [fusion_2409]  [fusion_2412]  
Fusion : COSMICETV6 [12p13.2]  -  RUNX1 [21q22.12]  [fusion_2245]  [fusion_2247]  [fusion_2253]  [fusion_2254]  [fusion_2255]  [fusion_2256]  [fusion_2258]  
[fusion_2259]  [fusion_2260]  [fusion_2261]  [fusion_2262]  [fusion_2263]  [fusion_2264]  [fusion_2265]  [fusion_2266]  [fusion_2267]  [fusion_2268]  
[fusion_2269]  [fusion_2270]  [fusion_2271]  [fusion_2272]  [fusion_2273]  [fusion_2274]  [fusion_2275]  [fusion_2276]  [fusion_2277]  [fusion_2278]  
[fusion_2279]  [fusion_2280]  
Fusion : COSMICJAK2 [9p24.1]  -  ETV6 [12p13.2]  [fusion_991]  
Fusion : COSMICMN1 [22q12.1]  -  ETV6 [12p13.2]  [fusion_2401]  [fusion_2404]  
Fusion : COSMICNTRK3 [15q25.3]  -  ETV6 [12p13.2]  [fusion_825]  
Fusion : COSMICRUNX1 [21q22.12]  -  ETV6 [12p13.2]  [fusion_2249]  [fusion_2251]  [fusion_2257]  [fusion_2281]  [fusion_2282]  [fusion_2283]  [fusion_2284]  
[fusion_2285]  [fusion_2286]  
Fusion : FusionHubABL1--ETV6    ABL2--ETV6    ACS2--ETV6    ACSL1--ETV6    ACSL5--ETV6    ACSL6--ETV6    ADAMTS16--ETV6    AK125726--ETV6    AML1--ETV6    ARNT--ETV6   
BAZ2A--ETV6    BCL2L14--ETV6    BCR--ETV6    BORCS5--ETV6    BTL--ETV6    CASC1--ETV6    CBFA2T1--ETV6    CBX3--ETV6    CD70--ETV6    CDK2AP1--ETV6   
CDKN1B--ETV6    CDX2--ETV6    CHIC2--ETV6    CIT--ETV6    CREBBP--ETV6    DCAF5--ETV6    EBF1--ETV6    EFL1--ETV6    ELMO1--ETV6    ELN--ETV6   
EMP1--ETV6    ETV6--ABL1    ETV6--ABL2    ETV6--ACN9    ETV6--ACS2    ETV6--ACSL1    ETV6--ACSL5    ETV6--ACSL6    ETV6--ADCK3    ETV6--AML1   
ETV6--ANO6    ETV6--APOLD1    ETV6--ARG    ETV6--ARNT    ETV6--ATG7    ETV6--ATP5C1    ETV6--BAZ2A    ETV6--C19ORF66    ETV6--CBFA2    ETV6--CD163   
ETV6--CDKN1B    ETV6--CDX2    ETV6--CIDEA    ETV6--DOCK4    ETV6--DUSP16    ETV6--EPB41L2    ETV6--EPHA6    ETV6--ETV6    ETV6--EVI1    ETV6--FACL6   
ETV6--FGFR3    ETV6--FHL5    ETV6--FLT3    ETV6--FOXO1    ETV6--FOXP1    ETV6--GABARAPL1    ETV6--GBP2    ETV6--GOT1    ETV6--GRIA2    ETV6--GSX2   
ETV6--H4    ETV6--HCMOGT-1    ETV6--HIP1    ETV6--HLXB9    ETV6--HOXD1    ETV6--IGFBP7    ETV6--IGH@    ETV6--IGK@    ETV6--IKZF1    ETV6--INO80D   
ETV6--IRF8    ETV6--ITK    ETV6--ITLN1    ETV6--ITPR2    ETV6--JAK2    ETV6--KIAA1257    ETV6--LOH12CR1    ETV6--LPXN    ETV6--LRP6    ETV6--LYN   
ETV6--MAP4    ETV6--MDS2    ETV6--MECOM    ETV6--MICA    ETV6--MN1    ETV6--MNX1    ETV6--MSH6    ETV6--MST2    ETV6--NA    ETV6--NCOA2   
ETV6--NELL2    ETV6--NID1    ETV6--NIN    ETV6--NIPBL    ETV6--NKAIN2    ETV6--NTRK2    ETV6--NTRK3    ETV6--PAX5    ETV6--PCM1    ETV6--PDE4DIP   
ETV6--PDE6H    ETV6--PDGFRA    ETV6--PDGFRB    ETV6--PDZD7    ETV6--PER1    ETV6--PEX5    ETV6--PGAP3    ETV6--PHF11    ETV6--PIGR    ETV6--PIK3CD   
ETV6--PLEKHG6    ETV6--PLXDC2    ETV6--PMEL    ETV6--PML    ETV6--PRDM16    ETV6--PRH1-PRR4    ETV6--PRR4    ETV6--PRUNE2    ETV6--PSPC1    ETV6--PTPRO   
ETV6--PTPRR    ETV6--QSOX1    ETV6--RAB5EP    ETV6--RBM47    ETV6--RBM6    ETV6--RIMKLB    ETV6--RNU6-19P    ETV6--RPN1    ETV6--RUNX1    ETV6--SCYL2   
ETV6--SENP7    ETV6--SFSWAP    ETV6--SKP1    ETV6--SLC15A5    ETV6--SLCO1B3    ETV6--SOX5    ETV6--SPIDR    ETV6--SREK1IP1    ETV6--STL    ETV6--SUCLG1   
ETV6--SYK    ETV6--SYN1    ETV6--TAOK1    ETV6--TCBA1    ETV6--TMPRSS2    ETV6--TMTC2    ETV6--TRIP11    ETV6--TTL    ETV6--UBC    ETV6--WASF2   
ETV6--WDR70    ETV6--YBX3    ETV6--YTHDF2    ETV6--ZNF521    EVI1--ETV6    FGFR3--ETV6    FLT3--ETV6    FRK--ETV6    GOT1--ETV6    HIPK2--ETV6   
HLXB9--ETV6    HNRNPA2B1--ETV6    HOXD1--ETV6    JAK2--ETV6    LINC01252--ETV6    LPXN--ETV6    LYN--ETV6    MDS2--ETV6    MN1--ETV6    MNX1--ETV6   
NCOA2--ETV6    NTRK3--ETV6    P13--ETV6    PAX5--ETV6    PDGFRA--ETV6    PDGFRB--ETV6    PER1--ETV6    PGAP3--ETV6    RUNX1--ETV6    SEMA6A--ETV6   
SPTAN1--ETV6    STL--ETV6    SYK--ETV6    TEL1--ETV6    TRKC--ETV6    TTL--ETV6    VMP1--ETV6   
Fusion : QuiverETV6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerETV6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ETV6
Exome Variant ServerETV6
GNOMAD BrowserENSG00000139083
Varsome BrowserETV6
ACMGETV6 variants
Genomic Variants (DGV)ETV6 [DGVbeta]
DECIPHERETV6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisETV6 
ICGC Data PortalETV6 
TCGA Data PortalETV6 
Broad Tumor PortalETV6
OASIS PortalETV6 [ Somatic mutations - Copy number]
Cancer Gene: CensusETV6 
Somatic Mutations in Cancer : COSMICETV6  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DETV6
Mutations and Diseases : HGMDETV6
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
DgiDB (Drug Gene Interaction Database)ETV6
DoCM (Curated mutations)ETV6
CIViC (Clinical Interpretations of Variants in Cancer)ETV6
NCG (London)ETV6
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
OMIM600618    601626    616216   
Orphanet803    905    3734    21543    11012    13840    29205   
Genetic Testing Registry ETV6
NextProtP41212 [Medical]
Target ValidationETV6
Huge Navigator ETV6 [HugePedia]
Clinical trials, drugs, therapy
Protein Interactions : CTDETV6
Pharm GKB GenePA27909
Clinical trialETV6
DataMed IndexETV6
PubMed290 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 14:06:55 CET 2022

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