t(2;12)(q31;p13) ETV6/?

2006-11-01   Jean-Loup Huret  

1.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 IDYearTitleCitations
376865222023The Impact of ETV6-NTRK3 Oncogenic Gene Fusions on Molecular and Signaling Pathway Alterations.121
367666992023The Landscape of Secondary Genetic Rearrangements in Pediatric Patients with B-Cell Acute Lymphoblastic Leukemia with t(12;21).110
363508272023ETV6 Deficiency Unlocks ERG-Dependent Microsatellite Enhancers to Drive Aberrant Gene Activation in B-Lymphoblastic Leukemia.82
366582192023ETV6 dependency in Ewing sarcoma by antagonism of EWS-FLI1-mediated enhancer activation.75
364112862022Regulome analysis in B-acute lymphoblastic leukemia exposes Core Binding Factor addiction as a therapeutic vulnerability.71
288310102017Nasopharyngeal carcinoma super-enhancer-driven ETV6 correlates with prognosis.68
365439592023ETV3 and ETV6 enable monocyte differentiation into dendritic cells by repressing macrophage fate commitment.66
351989112022Identification of new ETV6 modulators through a high-throughput functional screening.66
345872392022t(4;12)(q12;p13) ETV6-rearranged AML without eosinophilia does not involve PDGFRA: relevance for imatinib insensitivity.66
376703232023RNA binding protein IGF2BP1 synergizes with ETV6-RUNX1 to drive oncogenic signaling in B-cell Acute Lymphoblastic Leukemia.65
358035452022Germline ETV6 mutation promotes inflammation and disrupts lymphoid development of early hematopoietic progenitors.63
346240962022ETV6-NCOA2 fusion induces T/myeloid mixed-phenotype leukemia through transformation of nonthymic hematopoietic progenitor cells.63
323269702020A novel ETV6-miR-429-CRKL regulatory circuitry contributes to aggressiveness of hepatocellular carcinoma.60
328412182020ETV6 germline mutations cause HDAC3/NCOR2 mislocalization and upregulation of interferon response genes.60
272297142016Characterization of leukemias with ETV6-ABL1 fusion.59
374698022023Optical Genome Mapping Identifies Novel Recurrent Structural Alterations in Childhood ETV6::RUNX1+ and High Hyperdiploid Acute Lymphoblastic Leukemia.59
286376242017ETV6 in hematopoiesis and leukemia predisposition.58
334502262021Biophysical characterization of the ETV6 PNT domain polymerization interfaces.58
267110022016Determination of ETV6-RUNX1 genomic breakpoint by next-generation sequencing.57
261025092015Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia.55
398808322025Molecular and pharmacological heterogeneity of ETV6::RUNX1 acute lymphoblastic leukemia.55
300871632018Transcription factor Etv6 regulates functional differentiation of cross-presenting classical dendritic cells.55
362927672022Elevated ETV6 Expression in Glioma Promotes an Aggressive In Vitro Phenotype Associated with Shorter Patient Survival.52
312488772019ETV6-related thrombocytopenia and leukemia predisposition.51
326934092021Molecular basis of ETV6-mediated predisposition to childhood acute lymphoblastic leukemia.50
383564602024ETV6::ACSL6 translocation-driven super-enhancer activation leads to eosinophilia in acute lymphoblastic leukemia through IL-3 overexpression.50
252815062015ETV6 (TEL1) regulates embryonic hematopoiesis in zebrafish.50
375227152023ETV6 represses inflammatory response genes and regulates HSPC function during stress hematopoiesis in mice.48
318228032020Characterization of novel genetic alterations in salivary gland secretory carcinoma.48
282199272017Molecular role of the PAX5-ETV6 oncoprotein in promoting B-cell acute lymphoblastic leukemia.43
356859212022Low Prevalence of ETV6::RUNX1 Fusion Gene in a Hispanic Population.40
329579842020Clinicopathological findings of pediatric NTRK fusion mesenchymal tumors.38
378952012023Complex Genomic Rearrangements Involving ETV6::ABL1 Gene Fusion in an Individual with Myeloid Neoplasm.33
90508851997Functional characterization of ETV6 and ETV6/CBFA2 in the regulation of the MCSFR proximal promoter.33
292542792017Modeling the process of childhood ETV6-RUNX1 B-cell leukemias.31
309406392019Germline deletion of ETV6 in familial acute lymphoblastic leukemia.30
336778682021[Clinical features and prognosis of ETV6-RUNX1-positive childhood B-precursor acute lymphocyte leukemia].29
232044792012Modeling ETV6-JAK2-induced leukemia: insights from the zebrafish.26
324067892021ETV6-related thrombocytopenia and platelet dysfunction.23
391019782024ETV6 Molecular Heterogeneity in Salivary Secretory Carcinoma: A Case Series Report and Literature Review.22
327233652020ETV6-ACSL6 fusion gene in myeloid neoplasms: clinical spectrum, current practice, and outcomes.22
382032882023ETV6::ABL1-Positive Myeloid Neoplasm: A Case of a Durable Response to Imatinib Mesylate without Additional or Previous Treatment.21
375035862023Myeloproliferative Neoplasm Driven by ETV6-ABL1 in an Adolescent with Recent History of Burkitt Leukemia.21
389525022024Mixed-phenotype (B-lymphocytic/myeloid) acute leukemia with ETV6-ABL1 expression.20
388066302024Backtracking NOM1::ETV6 fusion to neonatal pathogenesis of t(7;12) (q36;p13) infant AML.15
390668372024ETV6::ABL1 fusion: from overlooked minor clone in myeloproliferative neoplasm to major player in leukemic transformation.15
345357622022ETV6-RUNX1 and RUNX1 directly regulate RAG1 expression: one more step in the understanding of childhood B-cell acute lymphoblastic leukemia leukemogenesis.15
355869672022ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism.14
355371152022Clonal hematopoiesis in patients with ANKRD26 or ETV6 germline mutations.13
373817752023ETV6 fusions from insertions of exons 3-5 in pediatric hematologic malignancies.12
294718952018ETV6/FLT3 Fusion Is a Novel Client Protein of Hsp90.12
365380462023ETS Fight Club on Microsatellite Enhancers.10
376018492023Leukaemic cells expressing ETV6::FRK are sensitive to dasatinib in vivo.9
243354102014"There will be blood" from fibroblasts.8
262195572015ETV6 mutations define a new cancer predisposition syndrome.7
282996592017Mechanism of ETV6-RUNX1 Leukemia.0
332267401993ETV6 Thrombocytopenia and Predisposition to Leukemia.0
274502722017Transcription factor defects causing platelet disorders.0
286937912017ETV6 and ETV7: Siblings in hematopoiesis and its disruption in disease.0
388246532024ETV6::RUNX1-like Acute Lymphoblastic Leukemia.0
285554142017Germline ETV6 mutations and predisposition to hematological malignancies.0
298942792018Acute myeloid leukemia carrying ETV6 mutations: biologic and clinical features.0
371443452023The clinical and molecular spectrum of ETV6 mutated myeloid neoplasms.0
225787742012ETV6 fusion genes in hematological malignancies: a review.0
370850352023Single-cell analysis of megakaryopoiesis in peripheral CD34(+) cells: insights into ETV6-related thrombocytopenia.0
282996602017ETV6-RUNX1 (+) Acute Lymphoblastic Leukaemia in Identical Twins.0
158268312005ETV6: a versatile player in leukemogenesis.0
328361792020Siblings with ETV6/RUNX1-positive B-lymphoblastic leukemia: A single site experience and review of the literature.0
386292452024RAF1 gene fusions are recurrent driver events in infantile fibrosarcoma-like mesenchymal tumors.0
390178492024The Diverse Roles of ETV6 Alterations in B-Lymphoblastic Leukemia and Other Hematopoietic Cancers.0
326592512020ETV6 gene aberrations in non-haematological malignancies: A review highlighting ETV6 associated fusion genes in solid tumors.0
90311091996ETV6 gene rearrangements in hematopoietic malignant disorders.0
360697452022Myeloid neoplasm with ETV6::ACSl6 fusion: landscape of molecular and clinical features.0
334757412021Germline ETV6 variants: not ALL created equally.0
362743302022Myxoid spindle cell sarcoma with ETV6-NTRK3 fusion.0
375978962023Translate or differentiate? Molecular mechanisms of ETV6-related thrombocytopenia.0
352283922022ETV6 Regulates Hemin-Induced Erythroid Differentiation of K562 Cells through Mediating the Raf/MEK/ERK Pathway.0
290345032018Detection of a new heterozygous germline ETV6 mutation in a case with hyperdiploid acute lymphoblastic leukemia.0
95232021998The second ETV6 allele is not necessarily deleted in acute leukemias with a ETV6/ABL fusion.0
111738302000Fusion genes in leukemia: an emerging network.0
333969882021[ETV6-rearranged low-grade sinonasal non-intestinal-type adenocarcinoma: a clinicopathological analysis].0
223735492012Detection of ETV6 gene rearrangements in adult acute lymphoblastic leukemia.0
158268362005ETV6-NTRK3: a chimeric protein tyrosine kinase with transformation activity in multiple cell lineages.0
391386612025Correction to: ETV6::ABL1 fusion: from overlooked minor clone in myeloproliferative neoplasm to major player in leukemic transformation.0
384417752024Characteristics and literature review of ETV6::ABL1 fusion gene-positive acute myeloid leukemia.0
371578492023Cannibalism in an ETV6::RUNX1 paediatric B acute lymphoblastic leukaemia.0
390373422024Acute myeloid leukemia with ETV6::CHIC2 fusion gene: 'Pitfalls' in diagnosis.0
280633782017Overexpression of PTP4A3 in ETV6-RUNX1 acute lymphoblastic leukemia.0
258505162015Functional analysis of truncated forms of ETV6.0
357879222022Therapeutic targeting of RBPJ, an upstream regulator of ETV6 gene, abrogates ETV6-NTRK3 fusion gene transformations in glioblastoma.0
110660762000t(7;12)(q36;p13), a new recurrent translocation involving ETV6 in infant leukemia.0
336602582021Management of ETV6-ABL1-positive childhood acute lymphoblastic leukaemia: report of two cases, a literature review and a call for action.0
379851352024Platelet expression of the transcription factor ETV6 associates with ETV6-related thrombocytopenia and can be detected by immunofluorescence on the blood film.0
211562452010B lymphoblastic leukemia with ETV6 amplification.0
387120342024Enigmatic missense mutations can cause disease via creation of de novo nuclear export signals.0
314827432020Myeloid neoplasm with eosinophilia and ETV6-JAK2 fusion.0
283951182017ETV6/RUNX1-like acute lymphoblastic leukemia: A novel B-cell precursor leukemia subtype associated with the CD27/CD44 immunophenotype.0
355068732022Apparent coexistence of ETV6::RUNX1 and KMT2A::MLLT3 fusions due to a nonproductive KMT2A rearrangement in B-ALL.0
333456792021A Multipronged Screening Approach Targeting Inhibition of ETV6 PNT Domain Polymerization.0
247405332014False positivity of ETV6/RUNX1 detected by FISH in healthy newborns and adults.0

Article Bibliography

Pubmed IDLast YearTitleAuthors
93897051997Heterogeneity 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

Atlas Image
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;12)(q31;p13)