ETV6 in hematopoiesis and leukemia predisposition.

ETV6 in hematopoiesis and leukemia predisposition.
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DOI:
10.1053/j.seminhematol.2017.04.005
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发表时间:
2017-04
影响因子:
3.6
通讯作者:
Shimamura A
Shimamura A
中科院分区:
医学3区
文献类型:
--
作者:
Hock H;Shimamura A

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ETV6(也称为TEL)基因编码在造血和胚胎发育中起关键作用的转录抑制因子。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,常染色体显性生殖系ETV6突变被发现在家族遗传性血小板减少症和发展血液恶性肿瘤的倾向,明确证明了作用ETV6白血病。生殖系ETV6突变的研究也揭示了ETV6在巨核细胞发育中的重要功能。在这里,我们讨论我们目前的理解ETV6在恶性肿瘤和造血中的作用。
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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影响因子: --
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