脑胶质瘤患者异柠檬酸脱氢酶(IDH)1/2基因突变与O6-甲基鸟嘌呤-DNA甲基转移酶(MGMT)基因启动子区甲基化的相关性研究  

Correlation between isocitrate dehydrogenase(IDH)1/2 gene mutation and methylation of promoter region of O6-methylguanine-DNA methyltransferase(MGMT)gene in patients with glioma

作　　者：林华亮 郑泽洲 郑伟杰 LIN Hualiang;ZHENG Zezhou;ZHENG Weijie(Department of Emergency Surgery,the Second People's Hospital of Longhu District in Shantou,Guangdong,Shantou 515041,China;The Second Department of Neurosurgery,Shantou Central Hospital,Guangdong,Shantou 515100,China;Department of Neurosurgery,Shantou Chaonan Minsheng Hospital,Guangdong,Shantou 515144,China)

机构地区：[1]广东省汕头市龙湖区第二人民医院急诊外科,广东汕头515041 [2]广东省汕头市中心医院神经外二科,广东汕头515100 [3]广东省汕头潮南民生医院神经外科,广东汕头515144

出　　处：《中国医药科学》2021年第9期19-22,共4页China Medicine And Pharmacy

基　　金：广东省医学科学技术研究基金项目(A2019392)。

摘　　要：目的探讨脑胶质瘤患者异柠檬酸脱氢酶(IDH)1/2基因突变与O6-甲基鸟嘌呤-DNA甲基转移酶(MGMT)基因启动子区甲基化的相关性。方法回顾性分析汕头市龙湖区第二人民医院普外科2018年1月至2020年2月脑胶质瘤患者60例临床资料,观察脑胶质瘤患者IDH 1/2基因突变与MGMT基因启动子区甲基化,观察IDH 1/2基因突变与MGMT基因启动子区甲基化相关性分析情况。结果18例患者检测出IDH 1/2基因突变,其中WHO的分级Ⅱ级8例、Ⅲ级7例,Ⅳ级3例,分级在IDH 1/2基因突变分布中,差异有统计学意义(χ^(2)=108.454,P=0.000),33例患者检测出MGMT基因启动子区甲基化,其中WHO的分级Ⅰ级2例、Ⅱ级8例、Ⅲ级8例,Ⅳ级15例,分级在MGMT基因启动子区甲基化分布中,差异无统计学意义(χ^(2)=0.527,P=0.538)。IDH 1/2基因突变与MGMT基因启动子区甲基化呈现明显正相关,差异有统计学意义(r=0.368,P=0.014)。结论脑胶质瘤患者IDH1/2基因突变与MGMT基因启动子区甲基化呈正相关,为指导临床诊断治疗提供了理论依据。Objective To investigate the correlation between isocitrate dehydrogenase(IDH)1/2 gene mutation and methylation of promoter region of O6-methylguanine-DNA methyltransferase(MGMT)gene in patients with glioma.Methods The clinical data of 60 patients with glioma in Department of General Surgery of the Second People's Hospital of Longhu District in Shantou of Shantou from January 2018 to February 2020 were analyzed retrospectively.IDH 1/2 gene mutation and the methylation of the promoter region of MGMT gene in patients with glioma were observed.The correlation analysis between IDH 1/2 gene mutation and the methylation of the promoter region of MGMT gene was observed.Results IDH 1/2 gene mutations were detected in 18 cases,including 8 cases of WHO gradeⅡ,7 cases of WHO gradeⅢ,and 3 cases of WHO gradeⅣ.The differences in the grading of IDH 1/2 gene mutations were statistically significant(χ^(2)=108.454,P=0.000).The methylation in the promoter region of MGMT gene was detected in 33 cases,included 2 cases of WHO grade I,8 cases of WHO gradeⅡ,8 cases of WHO gradeⅢ,and 15 cases of WHO gradeⅣ.There were no significant differences in the grading of methylation of promoter region of MGMT gene(χ^(2)=0.527,P=0.538).The mutation of IDH 1/2 gene was positively correlated with the methylation of promoter region of MGMT gene(r=0.368,P=0.014),and the difference was statistically significant.Conclusion The mutation of IDH1/2 gene in patients with glioma is positively correlated with the methylation of promoter region of MGMT gene,which provides a theoretical basis for guiding clinical diagnosis and treatment.

关 键 词：脑胶质瘤 异柠檬酸脱氢酶1/2 O6-甲基鸟嘌呤-DNA甲基转移酶 启动子 甲基化 

分 类 号：R739.4[医药卫生—肿瘤]