[1]赵宇航　王泽芬　徐成仕　李　凯　李志强.人脑胶质瘤IDH1突变状态与MGMT启动子甲基化、P53和TERT突变相关性[J].中国临床神经外科杂志,2018,(05):339-342.[doi:10.13798/j.issn.1009-153X.2018.05.011]
　ZHAO Yu-hang,WANG Ze-fen,XU Cheng-shi,et al.Correlativity of IDH1 mutation with MGMT promoter methylation and P53 and TERT mutations in gliomas[J].,2018,(05):339-342.[doi:10.13798/j.issn.1009-153X.2018.05.011]
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人脑胶质瘤IDH1突变状态与MGMT启动子甲基化、P53和TERT突变相关性()
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《中国临床神经外科杂志》[ISSN:1009-153X/CN:42-1603/TN]

卷:
期数:
2018年05期
页码:
339-342
栏目:
论著
出版日期:
2018-05-25

文章信息/Info

Title:
Correlativity of IDH1 mutation with MGMT promoter methylation and P53 and TERT mutations in gliomas
文章编号:
1009-153X（2018）05-0339-04
作者:
赵宇航　王泽芬　徐成仕　李　凯　李志强
作者单位：430071 武汉，武汉大学中南医院神经外科（赵宇航、徐成仕、李　凯、李志强）；430071 武汉，武汉大学医学部基础医学院生理教研室（王泽芬）
Author(s):
ZHAO Yu-hang1;  WANG Ze-fen2;  XU Cheng-shi1;  LI-Kai1;  LI Zhi-qiang1.
1. Department of Neurosurgery, Zhongnan Hospital, Wuhan University, Wuhan 430071, China; 2. Department of Physiology, School of Basic Medicine Sciences, Wuhan University, Wuhan 430071, China
关键词:
胶质瘤; 异柠檬脱氢酶1; O6-甲基鸟嘌呤-DNA甲基转移酶; P53; 端粒酶逆转录酶
Keywords:
Gliomas;  IDH1;  MGMT;  P53;  TERT;  Mutaion;  Correlativity
分类号:
R 739.41; Q 754
DOI:
10.13798/j.issn.1009-153X.2018.05.011
文献标志码:
A
摘要:
目的 探讨脑胶质瘤异柠檬脱氢酶1（IDH1）突变与O6-甲基鸟嘌呤-DNA甲基转移酶 （MGMT）启动子甲基化状态、P53和端粒酶逆转录酶（TERT）突变之间的相关性。方法 收集2016年6月至2017年9月手术切除并经病理诊断为胶质瘤标本72例（WHO Ⅱ级14例，Ⅲ级19例，Ⅳ级39例）。采用PCR荧光探针法检测MGMT基因启动子甲基化状态，毛细管电泳法检测基因IDH1、P53、TERT突变情况；采用列联系数分析IDH1突变与MGMT基因启动子甲基化、P53、TERT突变状态的相关性。采用多因素Logistic回归分析检验IDH1突变的相关因素。结果 72例中，IDH1突变率为29.2%，MGMT启动子甲基化率为47.2%，P53突变率为41.4%，TERT突变率为50%。相关性分析发现IDH1突变与MGMT启动子甲基化（列联系数=0.44；P<0.001）、P53突变（列联系数=0.32；P<0.05）均有显著相关性，但与TERT启动子突变无明显相关性（P>0.05）。IDH1野生型胶质瘤中MGMT启动子甲基化与TERT启动子基因突变具有相关性（列联系数=0.28，P<0.05）。IDH1突变型胶质瘤中MGMT启动子甲基化与P53基因突变具有相关性（列联系数=0.27，P<0.05）。多因素Logistic回归分析，结果显示病人年龄、MGMT启动子甲基化是IDH1突变独立相关因素（P<0.05）。结论 胶质瘤IDH1突变可能与MGMT启动子甲基化、P53和TERT突变之间存在复杂的相互调节作用。
Abstract:
Objective To explore the relationship of isocitrate dehydrogenase (IDH1) mutation with O6-alkylguanine DNA alkyltransferase (MGMT) promter methylation status and P53 and telomerase reverse transcriptase (TERT) mutations in gliomas. Methods The status of MGMT promoter methylation was determined by PCR-fluorescence probe and IDH1, P53 and TERT mutations were detected by capillary electrophoresis in 72 specimens of gliomas. The relationship of IDH1 mutation with MGMT promoter methylation and P53 and TERT mutations was statistically analyzed. Results The rates of IDH1, P53 and TERT promoter mutations were 28.2%, 41.4% and 50% respectively in 72 specimens of gliomas, in which the positive rates of MGMT promoter methylation was 47.2%. The IDH1 mutation was significantly related positively with MGMT promoter methylation (P<0.01). The significantly positive relationship was also observed between MGMT promoter methylation and P53 mutation (P<0.05) in the primary gliomas and between MGMT promoter methylation and TERT mutation (P<0.05) in wild-type IDH1 gliomas. Conclusions It is suggested that complex interactions may exist among IDH1 mutation, MGMT promoter methylation and P53 and TERT mutations. Further study of their mechanism should be performed for future exploring the targeted therapy of the gliomas.

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备注/Memo

备注/Memo:
基金项目：国家自然科学基金（81573459） 通讯作者：李志强，E-mail：lizhiqiang@whu.edu.cn
更新日期/Last Update: 2018-04-25