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异柠檬酸脱氢酶1/2(IDH1/2)和四氢叶酸还原酶2(TET2)突变在髓系疾病中的作用。

Roles of IDH1/2 and TET2 mutations in myeloid disorders.

作者信息

Inoue Satoshi, Lemonnier François, Mak Tak W

机构信息

The Campbell Family Institute for Breast Cancer Research, Princess Margaret Cancer Centre, Ontario Cancer Institute, University Health Network, 610 University Avenue, Toronto, ON, M5G 2M9, Canada.

出版信息

Int J Hematol. 2016 Jun;103(6):627-33. doi: 10.1007/s12185-016-1973-7. Epub 2016 Mar 15.

DOI:10.1007/s12185-016-1973-7
PMID:26980223
Abstract

Mutations of the epigenetic enzymes isocitrate dehydrogenase (IDH) 1 and 2, and the methylcytosine dioxygenase 'ten-eleven translocation 2' (TET2), are common in human myeloid malignancies and drivers of these disorders but the underlying mechanisms remain obscure. This review examines mutant IDH1/2 and TET2 enzymes in the context of responses to DNA damage and their potential involvement in age-related genomic instability. The clinical relevance of these findings and their potential application in novel therapeutic strategies is also discussed.

摘要

表观遗传酶异柠檬酸脱氢酶(IDH)1和2以及甲基胞嘧啶双加氧酶“10-11易位2”(TET2)的突变在人类髓系恶性肿瘤中很常见,是这些疾病的驱动因素,但其潜在机制仍不清楚。本综述在DNA损伤反应的背景下研究了突变型IDH1/2和TET2酶及其在与年龄相关的基因组不稳定中的潜在作用。还讨论了这些发现的临床相关性及其在新型治疗策略中的潜在应用。

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