63例高级别胶质瘤中IDH1和TERT突变状态的预后价值

Prognostic significance of IDH1 and TERT promotor mutations in 63 patients with high-grade gliomas

目的:探讨异柠檬酸脱氢酶-1(IDH1)和端粒酶逆转录酶(TERT)启动子突变对高级别胶质瘤患者的预后价值。方法:选取2014年9月至2017年6月于我院行手术切除且术后病理提示为高级别胶质瘤的患者63例(WHOⅢ级27例,Ⅳ级36例),完善临床资料、随访资料、分子检测结果。应用Sanger测序法检测样本中IDH1和TERT启动子突变情况,根据结果将患者分为不同亚组,通过比较其生存期的差异,分析基因突变与患者预后的关系。结果:63例高级别胶质瘤中,IDH1突变型和野生型患者的中位生存期分别为24和10个月,差异有统计学意义(P<0.01);TERT突变型和野生型的中位生存期无明显差异(P>0.05)。IDH1突变为高级别胶质瘤患者预后良好的因素,TERT突变不能单独提示预后,二者联合分析提示:IDH1突变/TERT突变组预后最好,IDH1野生/TERT突变组预后最差,IDH1突变/TERT野生组预后稍好于IDH1野生/TERT野生组,四组间预后有明显差异。结论:IDH1突变的高级别胶质瘤患者有较好的临床预后,在此基础上,TERT启动子突变检测有助于进一步划分其预后分层。

Objective:To explore the status and prognostic value of IDH1 and TERT promoter mutations in patients with high-grade gliomas.Methods:63 patients were enrolled at Cancer Hospital of China Medical University from September 2014 to June 2017 with pathological diagnosis of high-grade gliomas(WHOⅢ27 cases and WHOⅣ36 cases).Clinical data,follow-up data and genetic data were collected.Mutations of IDH1 and TERT genes were checked by DNA sequencing.The prognosis of different subgroups of patients with distinct status of IDH1 and TERT mutations were assessed.Results:The median survival time of IDH1 mut and IDH1 wt subgroups were 24 and 10 months with statistical significance(P<0.01).The median survival time of TERT mut was not much longer than that of TERT wt subgroup,without statistical significance(P>0.05).IDH1 mutation was a favorable prognostic factor for gliomas.TERT mutation alone was not a prognostic factor.High-grade gliomas were divided into four subgroups based on IDH1 and TERT mutation status:IDH1 mut/TERT mut,IDH1 mut/TERT wt,IDH1 wt/TERT wt and IDH1 wt/TERT mut.There was significant value among the four subgroups.Conclusion:IDH1 mutaion is an independent factor predicting favorable prognosis of gliomas.Status of TERT mutation can be added to help further divide high-grade gliomas and predict prognosis of different subgroups.