ETV6在造血作用及白血病易感性中的作用
ETV6 in hematopoiesis and leukemia predisposition.
作者信息
Hock Hanno, Shimamura Akiko
机构信息
Cancer Center and Center for Regenerative Medicine, Massachusetts General Hospital, Harvard Medical School, and Harvard Stem Cell Institute, Boston, MA.
Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA.
出版信息
Semin Hematol. 2017 Apr;54(2):98-104. doi: 10.1053/j.seminhematol.2017.04.005. Epub 2017 Apr 7.
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.
摘要
ETV6（也称为TEL）基因编码一种转录抑制因子，它在造血和胚胎发育中起关键作用。虽然在人类癌症中经常观察到体细胞ETV6易位和错义突变，但ETV6在恶性转化中的作用尚不清楚。最近，在患有遗传性血小板减少症且有发生血液系统恶性肿瘤倾向的家族中发现了常染色体显性生殖系ETV6突变，明确证明了ETV6在白血病发生中的作用。对生殖系ETV6突变的研究还揭示了ETV6在巨核细胞发育中的重要功能。在此，我们讨论目前对ETV6在恶性肿瘤和造血中的作用的理解。
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Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia.与急性淋巴细胞白血病易感性相关的ETV6相关血小板减少症的临床和致病特征
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