ETV6 (i.e. translocation-Ets-leukemia virus) protein is a transcription factor that in humans is encoded by the ETV6 (previously known as TEL) gene. The ETV6 protein regulates the development and growth of diverse cell types, particularly those of hematological tissues.

2024年12月25日 · ETV6 (ETS Variant Transcription Factor 6) is a Protein Coding gene. Diseases associated with ETV6 include Thrombocytopenia 5 and Hematologic Cancer. Among its related pathways are Signaling by PDGFR in disease and FLT3 signaling in disease.

2020年11月19日 · ETV6 thrombocytopenia and predisposition to leukemia is a nonsyndromic genetic disorder of thrombocytopenia and high risk of leukemia without any other known congenital anomalies. Formal clinical diagnostic criteria have not been published.

2019年8月22日 · Germ line mutations in ETV6 are responsible for a familial thrombocytopenia and leukemia predisposition syndrome. Thrombocytopenia is almost completely penetrant and is usually mild. Leukemia is reported in ∼30% of carriers and is most often B-cell acute lymphoblastic leukemia.

The ETV6 (also known as TEL) gene encodes a transcriptional repressor that plays a critical role in hematopoiesis and in embryonic development. While somatic ETV6 translocations and missense mutations are frequently observed in human cancers, the role of ETV6 in malignant transformation was unclear.

2022年11月15日 · Somatic ETV6 mutations are rare but recurrent events in hematologic malignancies, including myeloid neoplasms (MN), and are associated with a negative prognostic impact in MDS (Bernard et al. 2022). We set out to evaluate the prevalence, clinical and co-mutational profile of pathogenic ETV6 mutations in a cohort of patients undergoing targeted ...

The ETV6 (also known as TEL) gene encodes a transcriptional repressor that plays a critical role in hematopoiesis and in embryonic development. While somatic ETV6 translocations and missense mutations are frequently observed in human cancers, the role of ETV6 in malignant transformation was unclear. …

ETV6::ACSL6 translocation-driven super-enhancer activation leads to eosinophilia in acute lymphoblastic leukemia through IL-3 overexpression. Characteristics and literature review of ETV6::ABL1 fusion gene-positive acute myeloid leukemia. ETV6 fusions from insertions of exons 3-5 in pediatric hematologic malignancies.

The ETV6 gene provides instructions for producing a protein that functions as a transcription factor, which means that it attaches (binds) to specific regions of DNA and controls the activity of certain genes. Learn about this gene and related health conditions.

2023年1月19日 · Here we describe the results of a genome-scale CRISPR–Cas9 screen revealing that the wild-type ETS TF ETS variant 6 (ETV6; also known as TEL) is a crucial Ewing-sarcoma-selective TF...