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.

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.

2022年11月15日 · We set out to evaluate the prevalence, clinical and co-mutational profile of pathogenic ETV6 mutations in a cohort of patients undergoing targeted next-generation sequencing (NGS) in MNs.

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. The ETV6 protein is found in the nucleus of cells throughout the body, where it turns off (represses) gene activity.

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.

ETV6/RUNX1 (E/R) is the most common fusion gene in childhood acute lymphoblastic leukemia (ALL). Multiple lines of evidence imply a “two-hit” model for the molecular pathogenesis of E/R -positive ALL, whereby E/R rearrangement is followed by a series of secondary mutations that trigger overt leukemia.

2021年1月21日 · Leukemia predisposition variants in ETV6 lead to dramatic loss of transcription repressor activity, mainly by disrupting DNA binding. Germline ETV6 variants influence ALL transcriptional profile with a striking resemblance of ETV6-RUNX1 ALL …

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.

Etv6 is one of the few ETS proteins that functions as a transcriptional repressor. Etv6 is somewhat unusual among ETS family members because it is able to form homodimers in vivo, and its repressor activity is directly linked to its ability to self-associate [55].

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.