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摘要: 异柠檬酸脱氢酶(isocitrate dehydrogenase，IDH)作为三羧酸循环的关键酶，在细胞能量代谢中发挥重要作用。IDH基因突变可引起该酶的活性发生改变，导致大量肿瘤代谢物2-羟基戊二酸蓄积，从而引起严重的表观遗传调控紊乱和基因表达失调，促进肿瘤发生。近年来研究表明，IDH1和IDH2突变与胶质瘤、急性髓系白血病、肝内胆管癌等多种肿瘤的发生发展及其临床治疗具有密切关系。将IDH基因突变作为检测胶质瘤、急性髓系白血病、肝内胆管癌等肿瘤发生的分子标志物，以及靶向药物的开发位点具有重要意义。本文就IDH突变机制及其与多种肿瘤发生发展的关系，以及IDH突变治疗在基础研究和药物临床研究中的进展作一综述。Abstract: Isocitrate dehydrogenase (IDH), a key enzyme in the tricarboxylic acid cycle, plays an important role in cellular energy metabolism. When the IDH gene is mutated, the enzyme activity is altered, resulting in an accumulation of a large amount of the tumor metabolite 2-hydroxyglutaric acid (2-HG), causing severe epigenetic deregulation and dysregulation of gene expression, and promoting tumorigenesis. Recent studies have shown that IDH1 and IDH2 mutations are closely related to the occurrence and development of a variety of tumors such as glioma, acute myeloid leukemia(AML) and intrahepatic cholangiocarcinoma(iCCA) as well as their clinical treatment. It is of great significance to use IDH gene mutations as molecular indicators for detecting glioma, AML and iCCA tumorigenesis, and developing targeted drugs. This review is focused on the mechanism of IDH mutation, the relationship between mutant IDH and the development of multiple tumors, and the progress of treatment of IDH mutation in basic research and drug clinical trials.作者贡献：林美佳负责文献查阅及撰写论文；黄雄飞负责论文修改指导；曾也婷、王心睿负责论文审校。利益冲突：所有作者均声明不存在利益冲突
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