IDH1基因突变在脑胶质瘤中的研究进展

The Role of IDH1 Mutation in Gliomas-A Review

脑胶质瘤是中枢神经系统较常见的肿瘤之一,尽管目前诊疗技术得到长足的发展,但疗效仍然不尽如人意。随着分子病理学的发展,人们越来越关注脑胶质瘤中一些分子水平的异常在诊断和治疗疾病中的意义。近年来研究发现,脑胶质瘤患者存在高频率的异柠檬酸脱氢酶-1(isocitrate dehydrogenases-1,IDH1)基因突变现象,而且该突变与脑胶质瘤的诊断分型和临床预后有明确的关系,对其深入研究,有望找到脑胶质瘤治疗的新靶点,对改善当前脑胶质瘤治疗现状有着深远的意义。

Abstract Gliomas are the most frequent and lethal cancers of the central nervous system （ CNS ）. Despite recent therapeutic advances in surgical resection, adjuvant radiation therapy, and chemotherapy, the results remain unsatisfactory. Glioma grades increase and become more malignant, inducing patient morbidity and mortality. With the increasing knowledge regarding the glioma genetic aberrations, mutations of the gene encoding isocitrate dehydrogenase-1 （ IDH1 ） have been shown in a significant glioma proportion, usually producing a good outcome. IDH1 mutations are useful genetic alterations for the diagnosis, classification, novel targeting, and good prognosis of gliomas. A comprehensive review on the role of IDH1 mutation in gliomas is provided in this study.