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异柠檬酸脱氢酶-1(Isocitrate dehydrogenase-1,IDH1)突变是脑胶质瘤中基因突变所导致的代谢物生成异常,突变型胶质瘤与普通型胶质瘤具有不同的分子生物学特征,并常与患者良好预后相关。MGMT(O6-methylguanine-DNA methyltransferase)启动子甲基化能够降低胶质瘤中DNA修复蛋白MGMT的表达,提高患者对化疗药物烷化剂治疗的敏感性。IDH1突变和MGMT启动子甲基化在胶质瘤的生长过程中存在关联,二者的联合检测对胶质瘤的预后及治疗方式具有一定的提示作用,在胶质瘤的分子病理学诊断方面具有很大的应用前景。目前IDH1突变和MGMT启动子甲基化的检测已逐渐应用于临床,但其诊断方式及治疗指导意义有待进一步研究探讨。本文就IDH1基因突变及MGMT启动子甲基化在胶质瘤诊断及治疗方面的研究进展进行综述。
Isocitrate dehydrogenase-1 (IDH1) mutation is a result of gene mutation in glioma caused by abnormal metabolites, mutant glioma and ordinary glioma have different molecular biology Characteristics, and often associated with good prognosis in patients. MGMT (O6-methylguanine-DNA methyltransferase) promoter methylation can reduce the expression of DNA repair protein MGMT in glioma and improve the sensitivity of chemotherapeutic alkylating agents. IDH1 mutation and MGMT promoter methylation are associated with the growth of glioma. The combined detection of these two genes has some implications for the prognosis and treatment of gliomas. In the molecular pathological diagnosis of glioma Has great application prospects. At present, the detection of IDH1 mutation and MGMT promoter methylation has been gradually applied in clinic, but its diagnostic methods and therapeutic significance need to be further studied. This review summarizes the progress of IDH1 gene mutation and MGMT promoter methylation in the diagnosis and treatment of glioma.