ETV6 (ets variant 6)
2014-03-01 Etienne De Braekeleer , Nathalie Douet-Guilbert , Marc De Braekeleer AffiliationCytogenetics Laboratory, Faculty of Medicine, University of Brest, France
Identity
HGNC
LOCATION
12p13.2
IMAGE
LEGEND
ETV6 (12p13.2) in normal cells: clone dJ852F10 - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LEGEND
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.
LOCUSID
ALIAS
TEL,TEL/ABL,THC5
FUSION GENES
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.
DNA/RNA
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.
Proteins
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.
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.
Mutations
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.
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 name
t(1;12)(p36;p13) MDS2/ETV6
Disease
One CML with t(9;22) (no molecular analysis) and one refractory anemia with excess of blasts in transformation.
Fusion protein
Truncated ETV6 protein lacking critical functional domains and suggesting a loss of function of ETV6.
Oncogenesis
Entity name
t(1;12)(q21;p13) ARNT/ETV6
Disease
One AML-M2 and one T-cell acute lymphoblastic leukemia.
Hybrid gene
The ETV6-ARNT transcript contains the first 4 exons of ETV6 fused in frame with exon 1 or 2 of ARNT.
Fusion 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 name
t(1;12)(q25;p13) ABL2/ETV6
Disease
AML-M3, AML-M4, T-cell ALL, B-cell ALL.
Hybrid gene
Breakpoint in intron 5 of ETV6 in all three cases.
Fusion 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.
Entity name
t(3;12)(q26;p13) MDS1-EVI1 (MECOM)/ETV6
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 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.
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.
Fusion 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 name
t(4;12) (p16;p13) FGFR3/ETV6
Disease
Hybrid gene
Fusion of exon 5 of ETV6 to exon 10 of FGFR3.
Fusion 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 name
t(4;12)(q11;p13) 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 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.
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.
Fusion 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 name
t(5;12)(q31;p13) 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 gene
Different fusion genes are generated in four patients:
- in-frame fusion of exon 1 of ETV6 to the 3UTR 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).
- in-frame fusion of exon 1 of ETV6 to the 3UTR 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.
Entity name
t(5;12)(q33;p13) PDGFRB/ETV6
Note
Recurrent chromosomal abnormality (dozens of cases).
Disease
Myeloproliferative/myelodysplastic syndrome (usually referred as atypical Philadelphia-negative CML and CMML) with eosinophilia.
Hybrid 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.
Two cases showing a different fusion gene with the ETV6 breakpoint in intron 7.
Fusion 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.
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.
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 name
t(6;12)(q23;p13) STL/ETV6
Note
Only one case reported.
Disease
B-cell ALL.
Hybrid gene
Fusion gene only retains the first two exons of ETV6.
Fusion 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 name
t(7;12)(q36;p13) 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 gene
5 MNX1-3 ETV6 resulting in a transcript in which MNX1 exon 1 is joined with ETV6 exon 3.
Fusion 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 name
dic(9;12)(p13;p13) PAX5/ETV6
Note
Nonrandom chromosome abnormality found in about 1% of childhood B-cell ALL.
Disease
ALL.
Hybrid gene
5PAX5-3ETV6 transcript with fusion of exon 4 of PAX5 to exon 3 of ETV6.
Fusion 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 name
t(9;12) (p24;p13) JAK2/ETV6
Note
Only six cases described with ETV6/JAK2 fusion.
Disease
Pre-B ALL, atypical CML, T-cell ALL.
Hybrid gene
Breakpoint variability: introns 4 and 5 of ETV6 and introns 12 and 17 of JAK2.
Fusion 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 name
t(9;12)(q22;p13) SYK/ETV6
Note
Only two cases reported.
Disease
MDS.
Hybrid gene
Chimeric gene fuses the first 5 exons of ETV6 with SYK starting with exon 5.
Fusion 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 name
t(9;12)(q34;p13) 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 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.
Fusion 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 name
t(10;12)(q24;p13) GOT1/ETV6
Note
Two cases of MDS described.
Disease
MDS (RA and RAEB).
Hybrid gene
Transcript containing exon 2 to exon 9 of GOT1 and the first 2 or 3 exons of ETV6.
Fusion protein
Absence or truncation of the HLH domain of ETV6 in the protein.
Oncogenesis
Possibly inactivation of the wild type ETV6.
Entity name
t(12;13)(p13;q12) 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 gene
One in-frame fusion between exon 2 of ETV6 and exon 2 of CDX2; one fusion introducing an in-frame stop codon.
Fusion 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 name
t(12;13)(p13;q14) 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 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.
TTL-ETV6 transcript is a direct in-frame fusion between TTL exon 5 and ETV6 exon 2.
Fusion 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 name
t(12;15)(p13;q25) 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 gene
5 ETV6-3 NTRK3.
Fusion protein
Fusion protein retains the HLH domain of ETV6 and the protein tyrosine kinase (PTK) domain of NTRK3.
Oncogenesis
Constitutive active tyrosine kinase.
Entity name
t(12;17)(p13;p13) ETV6/PER1
Disease
Only one case of AML evolving from CMML.
Hybrid gene
Fusion between exon 1 of the ETV6 gene and exon 22 and part of intron 21 of PER1.
Fusion protein
No protein as PER1 has an antisense orientation.
Oncogenesis
Entity name
t(12;21)(p13;q22) 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 gene
Fusion of the 5 region of ETV6 (from exon 1 to 5) with almost the entire coding region of RUNX1.
Fusion 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 name
t(12;22)(p13;q11) MN1/ETV6
Note
Rare anomaly in myeloid hemopathies (6 cases with molecular analysis).
Disease
Myeloproliferative disorder, myelodysplastic syndrome, AML.
Hybrid gene
Two different types of MN1/ETV6 fusion (types I and II).
Fusion 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.
Entity name
t(4;12)(q23;p13) ETV6/PDGFRA
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 gene
In-frame fusion gene between ETV6 exon 6 and PDGFRA exon 11.
Fusion 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 name
t(12;13)(p13;q12) 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 gene
In-frame fusion gene between ETV6 exon 4 or exon 5 and FLT3 exon 14.
Fusion protein
Protein retains the HLH domain of ETV6 and the tyrosine kinase domains of FLT3.
Oncogenesis
Constitutively tyrosine kinase activation.
Entity name
t(6;12)(q21;p13) ETV6/FRK
Disease
Only one case of AML-M4.
Hybrid gene
ETV6 exon 4 fused in frame to exon 3 of FRK.
Fusion 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 name
ins(12;8)(p13;q11q21) ETV6/LYN
Disease
Only one case of primary myelofibrosis associated with ETV6/LYN.
Hybrid gene
Chimeric gene consists of the 5 region of ETV6 (breakpoint in intron 5) and the 3 region of LYN.
Fusion protein
Protein retains the HLH domain of ETV6 and the tyrosine kinase domain of LYN.
Oncogenesis
Constitutively tyrosine kinase activation.
Entity name
inv(12)(p13q13) ETV6/PTPRR
Disease
Only one case of AML-M2 associated with ETV6/PTPRR.
Hybrid gene
ETV6 exon 4 is fused to exon 7 of the PTPRR; 10 isoforms through alternative splicing.
Fusion 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 name
t(8;12)(q13;p13) ETV6/NCOA2
Disease
Pediatric acute biphenotypic leukemia (6 cases with ETV6/NCOA2), adult T-ALL (1 case).
Hybrid gene
Two different in-frame fusions are known:
- one between ETV6 exon 5 and NCOA2 exon 14 (one case).
- one between ETV6 exon 5 and NCOA2 exon 14 (one case).
Fusion 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 name
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 gene
Fusion of ETV6 and BAZ2A consisting of exons 1 and 2 of ETV6 and a sequence from intron 1 of BAZ2A.
Fusion 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 name
t(5;12;22)(q13;p13;q11) ETV6/FCHO2
Disease
Only one case of AML-M1.
Hybrid gene
Transcript consisting of ETV6 exons 1 and 2 with sequences of FCHO2.
Fusion 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 name
t(12;14)(p13;q32) 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 name
t(12;22)(p13;q12) ETV6/EMID1
Disease
Only one case of AML-M2.
Cytogenetics
Co-localization of both ETV6 and EMID1 signals by FISH (no molecular analysis).
Fusion protein
No chimeric protein expected to be produced (genes in opposite orientations following the translocation), but, maybe, a truncated ETV6.
Entity name
t(12;17)(p13;q21) 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).
Fusion protein
No chimeric protein expected to be produced (genes in opposite orientations following the translocation), but, maybe, a truncated ETV6.
Entity name
t(5;12)(p13;p13) NIPBL/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).
Breakpoints
Chromosomal distribution of the 33 ETV6 partners thus far identified.
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.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 9365838 | 1997 | BCR/ABL-negative chronic myeloid leukemia with ETV6/ABL fusion. | Andreasson P et al |
| 8743990 | 1996 | Genomic organization of TEL: the human ETS-variant gene 6. | Baens M et al |
| 10036184 | 1999 | 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 et al |
| 18656692 | 2008 | Establishment and cytogenetic characterization of a human acute lymphoblastic leukemia cell line (ALL-VG) with ETV6/ABL1 rearrangement. | Baeumler J et al |
| 12823349 | 2003 | Clinical and genetic studies of ETV6/ABL1-positive chronic myeloid leukaemia in blast crisis treated with imatinib mesylate. | Barbouti A et al |
| 15806161 | 2005 | Somatic heterozygous mutations in ETV6 (TEL) and frequent absence of ETV6 protein in acute myeloid leukemia. | Barjesteh van Waalwijk van Doorn-Khosrovani S et al |
| 21714648 | 2011 | Clinical effect of point mutations in myelodysplastic syndromes. | Bejar R et al |
| 15334551 | 2004 | A new complex rearrangement involving the ETV6, LOC115548, and MN1 genes in a case of acute myeloid leukemia. | Belloni E et al |
| 9305591 | 1997 | 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 et al |
| 12124316 | 2002 | TEL-AML1, expressed from t(12;21) in human acute lymphocytic leukemia, induces acute leukemia in mice. | Bernardin F et al |
| 11454678 | 2001 | Fusion of the homeobox gene HLXB9 and the ETV6 gene in infant acute myeloid leukemias with the t(7;12)(q36;p13). | Beverloo HB et al |
| 7731705 | 1995 | 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 et al |
| 11094079 | 2000 | 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 et al |
| 11406533 | 2001 | The paired box domain gene PAX5 is fused to ETV6/TEL in an acute lymphoblastic leukemia case. | Cazzaniga G et al |
| 10544023 | 1999 | The leukemia-associated gene TEL encodes a transcription repressor which associates with SMRT and mSin3A. | Chakrabarti SR et al |
| 9920852 | 1999 | Fusion of ETV6 to the caudal-related homeobox gene CDX2 in acute myeloid leukemia with the t(12;13)(p13;q12). | Chase A et al |
| 15759035 | 2005 | Clinical and cytogenetic features of 508 Chinese patients with myelodysplastic syndrome and comparison with those in Western countries. | Chen B et al |
| 17476096 | 2007 | Minimally differentiated acute myeloid leukemia with t(12;22)(p13;q11) translocation showing primary multidrug resistance and expressing multiple multidrug-resistant proteins. | Chen S et al |
| 10379868 | 1999 | Myeloid- and lymphoid-specific breakpoint cluster regions in chromosome band 13q14 in acute leukemia. | Coignet LJ et al |
| 10477709 | 1999 | Fusion of a novel gene, BTL, to ETV6 in acute myeloid leukemias with a t(4;12)(q11-q12;p13). | Cools J et al |
| 11861295 | 2002 | 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 et al |
| 17508004 | 2007 | A novel ETV6-PDGFRB fusion transcript missed by standard screening in a patient with an imatinib responsive chronic myeloproliferative disease. | Curtis CE et al |
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| 20107158 | 2010 | Screening for diverse PDGFRA or PDGFRB fusion genes is facilitated by generic quantitative reverse transcriptase polymerase chain reaction analysis. | Erben P et al |
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| 12161353 | 2002 | Clonal eosinophils are a morphologic hallmark of ETV6/ABL1 positive acute myeloid leukemia. | La Starza R et al |
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| 16572202 | 2006 | t(5;12)(q23-31;p13) with ETV6-ACSL6 gene fusion in polycythemia vera. | Murati A et al |
| 12661008 | 2003 | 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 et al |
| 16061641 | 2005 | Cloning and characterization of the novel chimeric gene TEL/PTPRR in acute myelogenous leukemia with inv(12)(p13q13). | Nakamura F et al |
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Other Information
Locus ID:
NCBI: 2120
MIM: 600618
HGNC: 3495
Ensembl: ENSG00000139083
Variants:
dbSNP: 2120
ClinVar: 2120
TCGA: ENSG00000139083
COSMIC: ETV6
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000139083 | ENST00000266427 | J3KN52 |
| ENSG00000139083 | ENST00000396373 | P41212 |
| ENSG00000139083 | ENST00000396373 | A0A0S2Z3C9 |
| ENSG00000139083 | ENST00000545027 | H0YG25 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA446155 | Precursor Cell Lymphoblastic Leukemia-Lymphoma | Disease | MultilinkAnnotation | associated | 26522332 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38441775 | 2024 | Characteristics and literature review of ETV6::ABL1 fusion gene-positive acute myeloid leukemia. | 0 |
| 38441775 | 2024 | Characteristics and literature review of ETV6::ABL1 fusion gene-positive acute myeloid leukemia. | 0 |
| 36543959 | 2023 | ETV3 and ETV6 enable monocyte differentiation into dendritic cells by repressing macrophage fate commitment. | 10 |
| 36565795 | 2023 | Fishing for ETV6/RUNX1 fusion and MLL gene rearrangements and their additional abnormalities in childhood acute lymphoblastic leukemia patients of Kashmir. | 1 |
| 36626254 | 2023 | Hereditary platelet disorders associated with germ line variants in RUNX1, ETV6, and ANKRD26. | 11 |
| 36658220 | 2023 | The ETS transcription factor ETV6 constrains the transcriptional activity of EWS-FLI to promote Ewing sarcoma. | 16 |
| 36764385 | 2023 | Functional damaging germline variants in ETV6, IKZF1, PAX5 and RUNX1 predisposing to B-cell precursor acute lymphoblastic leukemia. | 3 |
| 36848872 | 2023 | Description of an Institutional Cohort of Myeloid Neoplasms Carrying ETV6-Locus Deletions or ETV6 Rearrangements. | 0 |
| 37085035 | 2023 | Single-cell analysis of megakaryopoiesis in peripheral CD34(+) cells: insights into ETV6-related thrombocytopenia. | 0 |
| 37144345 | 2023 | The clinical and molecular spectrum of ETV6 mutated myeloid neoplasms. | 0 |
| 37381775 | 2023 | ETV6 fusions from insertions of exons 3-5 in pediatric hematologic malignancies. | 0 |
| 37415052 | 2023 | High-grade non-intestinal type sinonasal adenocarcinoma with ETV6::NTRK3 fusion, distinct from secretory carcinoma by immunoprofile and morphology. | 1 |
| 36543959 | 2023 | ETV3 and ETV6 enable monocyte differentiation into dendritic cells by repressing macrophage fate commitment. | 10 |
| 36565795 | 2023 | Fishing for ETV6/RUNX1 fusion and MLL gene rearrangements and their additional abnormalities in childhood acute lymphoblastic leukemia patients of Kashmir. | 1 |
| 36626254 | 2023 | Hereditary platelet disorders associated with germ line variants in RUNX1, ETV6, and ANKRD26. | 11 |
Citation
Etienne De Braekeleer ; Nathalie Douet-Guilbert ; Marc De Braekeleer
ETV6 (ets variant 6)
Atlas Genet Cytogenet Oncol Haematol. 2014-03-01
Online version: http://atlasgeneticsoncology.org/gene/38/aurkb-(aurora-kinase-b)
Historical Card
2005-06-01 ETV6 (ets variant 6) by Stevan Knezevich Affiliation
BC Cancer Research Centre (BCCRC), Vancouver, British Columbia, Canada
1999-12-01 ETV6 (ets variant 6) by Serge Pierrick Romana Affiliation
Service de Cytogenetique (Unite de Cytogenetique Moleculaire), Hopital Necker-Enfants-Malades, 149, rue de Sevres, 75015 Paris, France
