t(2;12)(q31;p13) ETV6/?
2006-11-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France
Clinics and Pathology
Disease
Non Hodgkin lymphoma (NHL) and myelodysplastic syndrome (chronic myelomonocytic leukemia (CMML)
Epidemiology
Only 2 cases to date (male patients): 1 NHL aged 30 yrs and 1 CMML aged 78 yrs
Prognosis
The CMML case died 2 yrs 9 mths after diagnosis
Genes Involved and Proteins
Note
ETV6 was found involved in the NHL case
Highly cited references
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37686522 | 2023 | The Impact of ETV6-NTRK3 Oncogenic Gene Fusions on Molecular and Signaling Pathway Alterations. | 121 |
| 36766699 | 2023 | The Landscape of Secondary Genetic Rearrangements in Pediatric Patients with B-Cell Acute Lymphoblastic Leukemia with t(12;21). | 110 |
| 36350827 | 2023 | ETV6 Deficiency Unlocks ERG-Dependent Microsatellite Enhancers to Drive Aberrant Gene Activation in B-Lymphoblastic Leukemia. | 82 |
| 36658219 | 2023 | ETV6 dependency in Ewing sarcoma by antagonism of EWS-FLI1-mediated enhancer activation. | 75 |
| 36411286 | 2022 | Regulome analysis in B-acute lymphoblastic leukemia exposes Core Binding Factor addiction as a therapeutic vulnerability. | 71 |
| 28831010 | 2017 | Nasopharyngeal carcinoma super-enhancer-driven ETV6 correlates with prognosis. | 68 |
| 36543959 | 2023 | ETV3 and ETV6 enable monocyte differentiation into dendritic cells by repressing macrophage fate commitment. | 66 |
| 35198911 | 2022 | Identification of new ETV6 modulators through a high-throughput functional screening. | 66 |
| 34587239 | 2022 | t(4;12)(q12;p13) ETV6-rearranged AML without eosinophilia does not involve PDGFRA: relevance for imatinib insensitivity. | 66 |
| 37670323 | 2023 | RNA binding protein IGF2BP1 synergizes with ETV6-RUNX1 to drive oncogenic signaling in B-cell Acute Lymphoblastic Leukemia. | 65 |
| 35803545 | 2022 | Germline ETV6 mutation promotes inflammation and disrupts lymphoid development of early hematopoietic progenitors. | 63 |
| 34624096 | 2022 | ETV6-NCOA2 fusion induces T/myeloid mixed-phenotype leukemia through transformation of nonthymic hematopoietic progenitor cells. | 63 |
| 32326970 | 2020 | A novel ETV6-miR-429-CRKL regulatory circuitry contributes to aggressiveness of hepatocellular carcinoma. | 60 |
| 32841218 | 2020 | ETV6 germline mutations cause HDAC3/NCOR2 mislocalization and upregulation of interferon response genes. | 60 |
| 27229714 | 2016 | Characterization of leukemias with ETV6-ABL1 fusion. | 59 |
| 37469802 | 2023 | Optical Genome Mapping Identifies Novel Recurrent Structural Alterations in Childhood ETV6::RUNX1+ and High Hyperdiploid Acute Lymphoblastic Leukemia. | 59 |
| 28637624 | 2017 | ETV6 in hematopoiesis and leukemia predisposition. | 58 |
| 33450226 | 2021 | Biophysical characterization of the ETV6 PNT domain polymerization interfaces. | 58 |
| 26711002 | 2016 | Determination of ETV6-RUNX1 genomic breakpoint by next-generation sequencing. | 57 |
| 26102509 | 2015 | Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia. | 55 |
| 39880832 | 2025 | Molecular and pharmacological heterogeneity of ETV6::RUNX1 acute lymphoblastic leukemia. | 55 |
| 30087163 | 2018 | Transcription factor Etv6 regulates functional differentiation of cross-presenting classical dendritic cells. | 55 |
| 36292767 | 2022 | Elevated ETV6 Expression in Glioma Promotes an Aggressive In Vitro Phenotype Associated with Shorter Patient Survival. | 52 |
| 31248877 | 2019 | ETV6-related thrombocytopenia and leukemia predisposition. | 51 |
| 32693409 | 2021 | Molecular basis of ETV6-mediated predisposition to childhood acute lymphoblastic leukemia. | 50 |
| 38356460 | 2024 | ETV6::ACSL6 translocation-driven super-enhancer activation leads to eosinophilia in acute lymphoblastic leukemia through IL-3 overexpression. | 50 |
| 25281506 | 2015 | ETV6 (TEL1) regulates embryonic hematopoiesis in zebrafish. | 50 |
| 37522715 | 2023 | ETV6 represses inflammatory response genes and regulates HSPC function during stress hematopoiesis in mice. | 48 |
| 31822803 | 2020 | Characterization of novel genetic alterations in salivary gland secretory carcinoma. | 48 |
| 28219927 | 2017 | Molecular role of the PAX5-ETV6 oncoprotein in promoting B-cell acute lymphoblastic leukemia. | 43 |
| 35685921 | 2022 | Low Prevalence of ETV6::RUNX1 Fusion Gene in a Hispanic Population. | 40 |
| 32957984 | 2020 | Clinicopathological findings of pediatric NTRK fusion mesenchymal tumors. | 38 |
| 37895201 | 2023 | Complex Genomic Rearrangements Involving ETV6::ABL1 Gene Fusion in an Individual with Myeloid Neoplasm. | 33 |
| 9050885 | 1997 | Functional characterization of ETV6 and ETV6/CBFA2 in the regulation of the MCSFR proximal promoter. | 33 |
| 29254279 | 2017 | Modeling the process of childhood ETV6-RUNX1 B-cell leukemias. | 31 |
| 30940639 | 2019 | Germline deletion of ETV6 in familial acute lymphoblastic leukemia. | 30 |
| 33677868 | 2021 | [Clinical features and prognosis of ETV6-RUNX1-positive childhood B-precursor acute lymphocyte leukemia]. | 29 |
| 23204479 | 2012 | Modeling ETV6-JAK2-induced leukemia: insights from the zebrafish. | 26 |
| 32406789 | 2021 | ETV6-related thrombocytopenia and platelet dysfunction. | 23 |
| 39101978 | 2024 | ETV6 Molecular Heterogeneity in Salivary Secretory Carcinoma: A Case Series Report and Literature Review. | 22 |
| 32723365 | 2020 | ETV6-ACSL6 fusion gene in myeloid neoplasms: clinical spectrum, current practice, and outcomes. | 22 |
| 38203288 | 2023 | ETV6::ABL1-Positive Myeloid Neoplasm: A Case of a Durable Response to Imatinib Mesylate without Additional or Previous Treatment. | 21 |
| 37503586 | 2023 | Myeloproliferative Neoplasm Driven by ETV6-ABL1 in an Adolescent with Recent History of Burkitt Leukemia. | 21 |
| 38952502 | 2024 | Mixed-phenotype (B-lymphocytic/myeloid) acute leukemia with ETV6-ABL1 expression. | 20 |
| 38806630 | 2024 | Backtracking NOM1::ETV6 fusion to neonatal pathogenesis of t(7;12) (q36;p13) infant AML. | 15 |
| 39066837 | 2024 | ETV6::ABL1 fusion: from overlooked minor clone in myeloproliferative neoplasm to major player in leukemic transformation. | 15 |
| 34535762 | 2022 | ETV6-RUNX1 and RUNX1 directly regulate RAG1 expression: one more step in the understanding of childhood B-cell acute lymphoblastic leukemia leukemogenesis. | 15 |
| 35586967 | 2022 | ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism. | 14 |
| 35537115 | 2022 | Clonal hematopoiesis in patients with ANKRD26 or ETV6 germline mutations. | 13 |
| 37381775 | 2023 | ETV6 fusions from insertions of exons 3-5 in pediatric hematologic malignancies. | 12 |
| 29471895 | 2018 | ETV6/FLT3 Fusion Is a Novel Client Protein of Hsp90. | 12 |
| 36538046 | 2023 | ETS Fight Club on Microsatellite Enhancers. | 10 |
| 37601849 | 2023 | Leukaemic cells expressing ETV6::FRK are sensitive to dasatinib in vivo. | 9 |
| 24335410 | 2014 | "There will be blood" from fibroblasts. | 8 |
| 26219557 | 2015 | ETV6 mutations define a new cancer predisposition syndrome. | 7 |
| 28299659 | 2017 | Mechanism of ETV6-RUNX1 Leukemia. | 0 |
| 33226740 | 1993 | ETV6 Thrombocytopenia and Predisposition to Leukemia. | 0 |
| 27450272 | 2017 | Transcription factor defects causing platelet disorders. | 0 |
| 28693791 | 2017 | ETV6 and ETV7: Siblings in hematopoiesis and its disruption in disease. | 0 |
| 38824653 | 2024 | ETV6::RUNX1-like Acute Lymphoblastic Leukemia. | 0 |
| 28555414 | 2017 | Germline ETV6 mutations and predisposition to hematological malignancies. | 0 |
| 29894279 | 2018 | Acute myeloid leukemia carrying ETV6 mutations: biologic and clinical features. | 0 |
| 37144345 | 2023 | The clinical and molecular spectrum of ETV6 mutated myeloid neoplasms. | 0 |
| 22578774 | 2012 | ETV6 fusion genes in hematological malignancies: a review. | 0 |
| 37085035 | 2023 | Single-cell analysis of megakaryopoiesis in peripheral CD34(+) cells: insights into ETV6-related thrombocytopenia. | 0 |
| 28299660 | 2017 | ETV6-RUNX1 (+) Acute Lymphoblastic Leukaemia in Identical Twins. | 0 |
| 15826831 | 2005 | ETV6: a versatile player in leukemogenesis. | 0 |
| 32836179 | 2020 | Siblings with ETV6/RUNX1-positive B-lymphoblastic leukemia: A single site experience and review of the literature. | 0 |
| 38629245 | 2024 | RAF1 gene fusions are recurrent driver events in infantile fibrosarcoma-like mesenchymal tumors. | 0 |
| 39017849 | 2024 | The Diverse Roles of ETV6 Alterations in B-Lymphoblastic Leukemia and Other Hematopoietic Cancers. | 0 |
| 32659251 | 2020 | ETV6 gene aberrations in non-haematological malignancies: A review highlighting ETV6 associated fusion genes in solid tumors. | 0 |
| 9031109 | 1996 | ETV6 gene rearrangements in hematopoietic malignant disorders. | 0 |
| 36069745 | 2022 | Myeloid neoplasm with ETV6::ACSl6 fusion: landscape of molecular and clinical features. | 0 |
| 33475741 | 2021 | Germline ETV6 variants: not ALL created equally. | 0 |
| 36274330 | 2022 | Myxoid spindle cell sarcoma with ETV6-NTRK3 fusion. | 0 |
| 37597896 | 2023 | Translate or differentiate? Molecular mechanisms of ETV6-related thrombocytopenia. | 0 |
| 35228392 | 2022 | ETV6 Regulates Hemin-Induced Erythroid Differentiation of K562 Cells through Mediating the Raf/MEK/ERK Pathway. | 0 |
| 29034503 | 2018 | Detection of a new heterozygous germline ETV6 mutation in a case with hyperdiploid acute lymphoblastic leukemia. | 0 |
| 9523202 | 1998 | The second ETV6 allele is not necessarily deleted in acute leukemias with a ETV6/ABL fusion. | 0 |
| 11173830 | 2000 | Fusion genes in leukemia: an emerging network. | 0 |
| 33396988 | 2021 | [ETV6-rearranged low-grade sinonasal non-intestinal-type adenocarcinoma: a clinicopathological analysis]. | 0 |
| 22373549 | 2012 | Detection of ETV6 gene rearrangements in adult acute lymphoblastic leukemia. | 0 |
| 15826836 | 2005 | ETV6-NTRK3: a chimeric protein tyrosine kinase with transformation activity in multiple cell lineages. | 0 |
| 39138661 | 2025 | Correction to: ETV6::ABL1 fusion: from overlooked minor clone in myeloproliferative neoplasm to major player in leukemic transformation. | 0 |
| 38441775 | 2024 | Characteristics and literature review of ETV6::ABL1 fusion gene-positive acute myeloid leukemia. | 0 |
| 37157849 | 2023 | Cannibalism in an ETV6::RUNX1 paediatric B acute lymphoblastic leukaemia. | 0 |
| 39037342 | 2024 | Acute myeloid leukemia with ETV6::CHIC2 fusion gene: 'Pitfalls' in diagnosis. | 0 |
| 28063378 | 2017 | Overexpression of PTP4A3 in ETV6-RUNX1 acute lymphoblastic leukemia. | 0 |
| 25850516 | 2015 | Functional analysis of truncated forms of ETV6. | 0 |
| 35787922 | 2022 | Therapeutic targeting of RBPJ, an upstream regulator of ETV6 gene, abrogates ETV6-NTRK3 fusion gene transformations in glioblastoma. | 0 |
| 11066076 | 2000 | t(7;12)(q36;p13), a new recurrent translocation involving ETV6 in infant leukemia. | 0 |
| 33660258 | 2021 | Management of ETV6-ABL1-positive childhood acute lymphoblastic leukaemia: report of two cases, a literature review and a call for action. | 0 |
| 37985135 | 2024 | Platelet expression of the transcription factor ETV6 associates with ETV6-related thrombocytopenia and can be detected by immunofluorescence on the blood film. | 0 |
| 21156245 | 2010 | B lymphoblastic leukemia with ETV6 amplification. | 0 |
| 38712034 | 2024 | Enigmatic missense mutations can cause disease via creation of de novo nuclear export signals. | 0 |
| 31482743 | 2020 | Myeloid neoplasm with eosinophilia and ETV6-JAK2 fusion. | 0 |
| 28395118 | 2017 | ETV6/RUNX1-like acute lymphoblastic leukemia: A novel B-cell precursor leukemia subtype associated with the CD27/CD44 immunophenotype. | 0 |
| 35506873 | 2022 | Apparent coexistence of ETV6::RUNX1 and KMT2A::MLLT3 fusions due to a nonproductive KMT2A rearrangement in B-ALL. | 0 |
| 33345679 | 2021 | A Multipronged Screening Approach Targeting Inhibition of ETV6 PNT Domain Polymerization. | 0 |
| 24740533 | 2014 | False positivity of ETV6/RUNX1 detected by FISH in healthy newborns and adults. | 0 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 9389705 | 1997 | Heterogeneity in the breakpoints in balanced rearrangements involving band 12p13 in hematologic malignancies identified by fluorescence in situ hybridization: TEL (ETV6 ) is involved in only one half. | Sato Y et al |
Summary
t(2;12)(q31;p13) G- banding - Courtesy Melanie Zenger and Claudia Haferlach.
Citation
Jean-Loup Huret
t(2;12)(q31;p13) ETV6/?
Atlas Genet Cytogenet Oncol Haematol. 2006-11-01
Online version: http://atlasgeneticsoncology.org/haematological/1459/t(2
