异柠檬酸脱氢酶基因突变在肝内胆管癌中的作用

Isocitrate dehydrogenase gene mutations in intrahepatic cholangiocarcinoma

异柠檬酸脱氢酶（IDH）是肝内胆管癌（ICC）中最常见的基因变异之一。在ICC和其他恶性肿瘤中，突变翻译后的IDH酶可产生异常代谢产物羟戊二酸（2-HG），并取代正常代谢产物a酮戊二酸（a-KG），从而抑制多量a-KG依赖的双加氧酶活性，导致细胞分化改变，肿瘤形成。本文对ICC中IDH基因突变作用的研究进展进行综述。

Mutations in isocitrate dehydrogenase are a- mong the most common genetic alterations in intrahepatic cholan- giocarcinoma （ICC）. Mutant IDH proteins in ICC and other ma- lignancies acquire an abnormal enzymatic activity, allowing the conversion of alpha-ketoglutarate （alphaKG） to 2-hydroxyglutar- ate （2HG）, which inhibits the activity of multiple alphaKG-de- pendent dioxygenases, and results in alterations in cell differen- tiation and tumorigenesis. This review will focus on recent ad- vances, which may help understand the function of IDH mutation in intrahepatic cholangiocarcinoma.