期刊
SEMINARS IN HEMATOLOGY
卷 54, 期 2, 页码 98-104出版社
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1053/j.seminhematol.2017.04.005
关键词
ALL; MDS; ETV6; TEL; Platelets; Thrombocytopenia
类别
资金
- NIH/NIDDK [R24 DK099808]
- Hyundai Hope on Wheels Scholar Grant
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. (C) 2017 Elsevier Inc. All rights reserved.
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