TERT启动子突变在中枢神经系统孤立性纤维性肿瘤预后中的相关性分析

Correlation of TERT promoter mutation with prognosis of patients withsolitary fibrous tumors of central nervous system

目的探讨TERT(telomerase reverse transcriptase)基因启动子对中枢神经系统孤立性纤维性肿瘤(solitary fibrous tumors of the central nervous system,CNS SFT)预后的影响。方法采用Sanger测序法检测61例CNS SFT和20例胸膜孤立性纤维性肿瘤(solitary fibrous tumors,SFT)中TERT启动子突变。采用Kaplan-Meier法分析各项指标与预后的相关性。Cox比例风险回归模型分析预后影响因素。结果81例样本中有8例样本检测到TERT突变,其中7例突变位点均为C228T,1例检测到少见位点突变C216T。生存分析显示,TERT启动子突变与患者无进展生存期(progression-free survival,PFS)无关(P=0.469)。CNS SFT比胸膜SFT更易复发(P=0.002)。多因素分析显示,肿瘤发生部位及有无坏死是SFT独立预后因素(HR=4.294,95%CI=1.163~15.845,P=0.029;HR=5.887,95%CI=1.322~26.255,P=0.020)。结论TERT启动子突变对CNS SFT及胸膜SFT缺乏明确的预后价值,组织学特征是判断其预后的最佳指标。

Purpose To investigate the effect of telomerase reverse transcriptase(TERT)gene promoter mutation on the prognosis of solitary fibrous tumors of the central nervous system(CNS SFT).Methods Sanger sequencing was used to detect TERT promoter mutations in 61 cases of CNS SFT and 20 cases of solitary fibrous tumors(SFT)of the pleura.Kaplan-Meier method was used to analyze the correlation between each index and prognosis.Cox proportional risk regression model was established for multivariate survival analysis of independent prognostic influences.Results TERT mutations were detected in 8 of the 81 samples,7 of which were at C228T,and one rare locus mutation,C216T,was also detected.Survival analysis showed no significant correlation between TERT mutation and progression-free survival(PFS,P=0.469).CNS SFT was more likely to recur than pleural SFT(P=0.002).Multivariate survival analysis showed that tumor location and necrosis were independent prognostic factors of SFT(HR=4.294,95%CI=1.163-15.845,P=0.029;HR=5.887,95%CI=1.322-26.255,P=0.020).Conclusion TERT promoter mutations lack clear prognostic value for CNS SFT and pleural SFT,and the histological features are still the best indicators of their prognosis.