ETV6 in Hematopoiesis and Leukemia Predisposition

Overview

Journal Semin Hematol

Specialty Hematology

Date 2017 Jun 23

PMID 28637624

Citations 57

Authors

Hanno Hock

Akiko Shimamura

Affiliations

Soon will be listed here.

Abstract

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. Recently, autosomal dominant germline ETV6 mutations were discovered in families with inherited thrombocytopenia and a propensity to develop hematological malignancy, unequivocally demonstrating a role for ETV6 in leukemogenesis. Studies of germline ETV6 mutations also uncovered an important function of ETV6 in megakaryocyte development. Here we discuss our current understanding of the role of ETV6 in malignancy and in hematopoiesis.

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