中国现代神经疾病杂志 ›› 2022, Vol. 22 ›› Issue (9): 823-828. doi: 10.3969/j.issn.1672-6731.2022.09.013

• 综述 • 上一篇    

2 脑胶质瘤DNA甲基化临床意义及研究进展

姚盈盈, 王雷明, 滕梁红   

  1. 100053 北京, 首都医科大学宣武医院病理科
  • 收稿日期:2022-09-13 出版日期:2022-09-25 发布日期:2022-10-10
  • 通讯作者: 滕梁红,Email:tenglh2012@163.com
  • 基金资助:
    北京市医院管理中心临床医学发展专项——扬帆计划(项目编号:ZYLX202113);京津冀专项项目[项目编号:19JCZDJC64900(Z)]

Clinical significance and research progress of DNA methylation in glioma

YAO Ying-ying, WANG Lei-ming, TENG Liang-hong   

  1. Department of Pathology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China
  • Received:2022-09-13 Online:2022-09-25 Published:2022-10-10
  • Supported by:
    This study was supported by Beijing Hospitals Management Center Clinical Medicine Development Special Project:"Sail" Plan (No. ZYLX202113), and Beijing-Tianjin-Hebei Special Project[No. 19JCZDJC64900 (Z)].

摘要: 脑胶质瘤存在特异性CpG岛甲基化表型(G-CIMP),与异柠檬酸脱氢酶(IDH)突变密切相关。经替莫唑胺治疗的胶质瘤复发时存在一种超突变,O6-甲基鸟嘌呤-DNA甲基转移酶(MGMT)启动子甲基化水平有助于预测超突变风险,从而为临床决策提供依据。全基因组DNA甲基化分析业已成为中枢神经系统肿瘤分类的有效辅助方法,本文综述DNA甲基化分析在胶质瘤中的研究进展,并探讨其临床意义。

关键词: 神经胶质瘤, 异柠檬酸脱氢酶, 突变, DNA甲基化, 综述

Abstract: Glioma has a specific CpG island methylator phenotype (G-CIMP), which is closely related to isocitrate dehydrogenase (IDH) mutation. A hypermutation is present at recurrence in temozolomide-treated gliomas, and O6-methylguanine-DNA methyltransferase (MGMT) promoter methylation levels can help predict the risk of hypermutation to inform clinical decision. Whole genome DNA methylation analysis has become an effective auxiliary method for the classification of central nervous system tumors. This article reviews the research progress of DNA methylation analysis in glioma and discusses its clinical significance.

Key words: Glioma, Isocitrate dehydrogenase, Mutation, DNA methylation, Review