ArticleOncogene2005
Somatic heterozygous mutations in ETV6 (TEL) and frequent absence of ETV6 protein in acute myeloid leukemia.
Article in Oncogene, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed, 73 citations in OpenAlex.
- ETV6 mutations in early immature human T cell leukemias.The Journal of experimental medicine · 2011Trial
- Impact of ETV6 mutations on clinical outcomes in acute myeloid leukemia: a real-world retrospective cohort study.Annals of hematology · 2025Article
- A germlineScience advances · 2025Article
- The Diverse Roles of ETV6 Alterations in B-Lymphoblastic Leukemia and Other Hematopoietic Cancers.Advances in experimental medicine and biology · 2024Review
- The Genetic Landscape of Myelodysplastic Neoplasm Progression to Acute Myeloid Leukemia.International journal of molecular sciences · 2023Review
- ETV6 Deficiency Unlocks ERG-Dependent Microsatellite Enhancers to Drive Aberrant Gene Activation in B-Lymphoblastic Leukemia.Blood cancer discovery · 2023Article
- Acute myeloid leukemia: novel mutations and their clinical implications.American journal of blood research · 2023Review
- Description of an Institutional Cohort of Myeloid Neoplasms Carrying ETV6-Locus Deletions or ETV6 Rearrangements.Acta haematologica · 2023Article
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- Identification of key long non-coding RNAs in gastric adenocarcinoma.Cancer biomarkers : section A of Disease markers · 2020Article
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- Novel strategy for rapid functional in vivo validation of oncogenic drivers in haematological malignancies.Scientific reports · 2019Article
- A three‑lncRNA signature for prognosis prediction of acute myeloid leukemia in patients.Molecular medicine reports · 2018Article
- Germline ETV6 mutations and predisposition to hematological malignancies.International journal of hematology · 2017Review
- ETV6 in hematopoiesis and leukemia predisposition.Seminars in hematology · 2017Review
- Clonal evolution of acute myeloid leukemia highlighted by latest genome sequencing studies.Oncotarget · 2016Review
- Deregulation of the protein phosphatase 2A, PP2A in cancer: complexity and therapeutic options.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2016Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
ETV6 (ets translocation variant gene 6) TEL (translocation ets leukemia), encoding a transcriptional repressor, is involved in various translocations associated with human malignancies. Strikingly, the nonrearranged ETV6 allele is often deleted or inactivated in cells harboring these translocations. Although ETV6 translocations are infrequent in acute myeloid leukemia (AML), mutations or deregulated expression of ETV6 may contribute to leukemogenesis. To investigate the involvement of ETV6 in AML, we analysed 300 newly diagnosed patients for mutations in the coding region of the gene. Furthermore, we studied protein expression in 77 patients using two ETV6-specific antibodies. Five somatic heterozygous mutations were detected, which affected either the homodimerization- or the DNA-binding domain of ETV6. The proteins translated from the cDNAs of these mutants were unable to repress transcription and showed dominant-negative effects. In addition, we demonstrate that one-third of AML patients have deficient ETV6 protein expression, which is not related to ETV6 mRNA expression levels. In conclusion, we demonstrate that ETV6 abnormalities are not restricted to translocations and occur more frequently in AML than previously thought. Additional comprehensive studies are required to define the clinical consequence of ETV6 loss of function in AML.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.