Background:Thyroid cancer (TC) involves diverse genetic alterations, with their prognostic significance often debated.Objectives:This study evaluates the impact ofBRAF,TERTpromoter,TP53, and PI3K pathway mutations detected via Next-Generation Sequencing (NGS) on overall survival (OS) and disease-free survival (DFS) in follicular-derived TC patients.Methods:A comprehensive search was conducted in MEDLINE, Scopus, and EMBASE databases from 2013 to 2023 for studies using NGS on TC patients. Hazard ratios (HR) and 95% confidence intervals (CI) for OS and DFS were extracted from original studies or estimated from Kaplan–Meier curves (KMC). A random-effects model, weighted by inverse variance, was used to calculate pooled HRs. Publication bias was assessed using Egger’s regression test and visual funnel plot analysis.Results:Of the 3921 initial studies, nine studies involving 1075 patients were included in the meta-analysis.BRAFmutations showed no significant effect on OS (HR = 1.11, 95% CI: 0.66–1.88) or DFS (HR = 1.23, 95% CI: 0.66–2.29). In contrast,TERTpromoter mutations were strongly associated with worse OS (HR = 1.90, 95% CI: 1.17–3.09) and DFS (HR = 2.76, 95% CI: 1.86–4.10).TP53and PI3K pathway mutations were linked to shorter OS (HR = 2.87, 95% CI: 1.44–5.86 and HR = 2.17, 95% CI: 1.05–4.15, respectively), though their impact on DFS remains unclear due to limited data.Conclusions:These findings highlightTERTpromoter mutations as strong prognostic markers for both OS and DFS, whileTP53and PI3K mutations indicate higher mortality risk.
背景：甲状腺癌涉及多种基因改变，其预后意义常存争议。目的：本研究通过二代测序技术检测滤泡源性甲状腺癌患者中BRAF、TERT启动子、TP53及PI3K通路突变，评估其对总生存期和无病生存期的影响。方法：系统检索2013年至2023年间MEDLINE、Scopus和EMBASE数据库中应用NGS技术研究甲状腺癌的文献。从原始研究中提取或通过卡普兰-迈耶曲线估算总生存期和无病生存期的风险比及其95%置信区间。采用逆方差加权的随机效应模型计算汇总风险比，并通过Egger回归检验与漏斗图可视化分析评估发表偏倚。结果：在初步筛选的3921项研究中，最终纳入9项研究共1075例患者进行荟萃分析。BRAF突变对总生存期（HR=1.11，95%CI：0.66-1.88）和无病生存期（HR=1.23，95%CI：0.66-2.29）均无显著影响。相比之下，TERT启动子突变与较差的总生存期（HR=1.90，95%CI：1.17-3.09）和无病生存期（HR=2.76，95%CI：1.86-4.10）显著相关。TP53与PI3K通路突变均与较短的总生存期相关（HR分别为2.87[95%CI：1.44-5.86]和2.17[95%CI：1.05-4.15]），但因数据有限，其对无病生存期的影响尚不明确。结论：研究结果表明TERT启动子突变是总生存期和无病生存期的重要预后标志物，而TP53与PI3K通路突变提示更高的死亡风险。
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