TERT启动子突变、ATRX表达水平在人脑胶质瘤病人预后评估中的作用

Role of TERT promoter mutation and ATRX expression level in prognosis assessement of patients with glioma

目的探讨端粒酶逆转录酶(TERT)启动子突变、α-地中海贫血伴智力低下综合征基因(ATRX)表达水平在人脑胶质瘤病人预后评估中的价值。方法回顾性分析2016年6月~2018年6月手术治疗的102例人脑胶质瘤的临床资料。术后检测脑胶质瘤组织TERT启动子突变及ATRX表达情况。所有病人术后随访2年。结果102例中,低级别胶质瘤48例(WHO分级Ⅱ级),高级别胶质瘤54例(Ⅲ级31例,Ⅳ级23例)。低级别组TERT启动子突变率(37.50%,18/48)明显低于高级别组(59.26%,32/54;P<0.05),而ATRX表达阳性率(60.42%,29/48)明显高于高级别组(37.04%,20/54;P<0.05)。多因素Cox比例回归风险模型结果显示,TERT启动子突变、ATRX表达阴性是生存预后不良的独立危险因素(P<0.05)。生存曲线分析显示,TERT启动子突变型胶质瘤病人较野生型病人生存期明显缩短(P<0.05),ATRX表达阴性胶质瘤病人较表达阳性病人生存期明显缩短(P<0.05)。结论TERT启动子突变、ATRX基因表达对人脑胶质瘤预后评估具有重要价值。

Objective To explore the value of telomerase reverse transcriptase(TERT)promoter mutation andα-thalassemia with alpha thalassaemia/mental retardation syndrome,X-linked(ATRX)gene expression in the prognosis assessement of patients with glioma.Methods The clinical data of 102 glioma patients who underwent surgery from June 2016 to June 2018 were analyzed retrospectively.Glioma tissues were collected to detect the promoter mutation of TERT and expression level of ATRX.All the patients were followed up for 2 years.Results Of these 102 glioma patients,48 patients were of low-grade gliomas and 54 of high-grade.The mutation rate of TERT promoter in the low-grade group(37.50%,18/48)was significantly lower than that(59.26%,32/54)in the highgrade group(P<0.05),and the positive rate of ATRX expression in the low-grade group(60.42%,29/48)was significantly higher than that(37.04%,20/54)in the high-grade group(P<0.05).Multivariate Cox proportional regression risk model analysis showed that TERP promoter mutation and negative expression of ATRX were independent risk factors for poor survival prognoses in the patients with glioma(P<0.05).Kaplan-Meier survival analysis showed that the survival time of TERT promoter mutant glioma patients was significantly shorter than that of wild type patients(P<0.05),and the survival time of ATRX negative glioma patients was significantly shorter than that of positive patients(P<0.05).Conclusion TERT promoter mutation and ATRX expression are of great value in the prognosis evaluation of patients with glioma.