目的:评估HNSCC中两个最常见且互斥的-124C>T和-146C>TTERT启动子突变的患病率,并分析其预后作用。
方法:数据库Medline(通过Ovid),Embase(通过Ovid),科克伦图书馆,Scopus,和WebofScience(核心收藏)从开始到2022年12月进行搜索,以确定分析HNSCC中TERT启动子突变的研究。合并TERT启动子突变的患病率和死亡/进展的风险比(sHR),具有相应的置信区间(CI),估计。
结果:最初的搜索返回了6416篇文章,其中17项研究,包括1830名患者,符合患病率荟萃分析的标准。其中,8项研究拟合了纳入标准以分析TERT启动子突变的预后影响。总的来说,21%(95%CI:12%-31%)的HNSCC具有TERT启动子突变。TERT启动子突变更常见于口腔癌(患病率=47%,95%CI:33%-61%),其次是喉/下咽癌(患病率=12%,95%CI:4%-25%),虽然它们在口咽癌中相当罕见(患病率=1%,95%CI:0%-4%)。TERT启动子突变-124C>T与较高的死亡风险(sHR=2.01,95%CI:1.25-3.23)和进展风险(sHR=2.79,95%CI:1.77-4.40)相关,而-146C>TTERT启动子突变与总体生存期和无进展生存期均无显著相关性.
结论:TERT启动子突变主要局限于口腔癌。-124C>T是最常见的TERT启动子突变,并且与HNSCC的不良结局显着相关。
To estimate the prevalence of two most common and mutually exclusive -124 C > T and -146 C > T TERT promoter mutations in HNSCC and analyse their prognostic role.
The databases Medline (via Ovid), Embase (via Ovid), Cochrane Library, Scopus, and Web of Science (Core Collection) were searched from inception to December 2022 to identify studies analysing TERT promoter mutations in HNSCC. Pooled prevalence of TERT promoter mutations and hazard ratio (sHR) of death/progression, with corresponding confidence intervals (CI), were estimated.
The initial search returned 6416 articles, of which 17 studies, including 1830 patients, met the criteria for prevalence meta-analysis. Among them, 8 studies fitted the inclusion criterion to analyse the prognostic impact of TERT promoter mutations. Overall, 21% (95% CI: 12%-31%) of HNSCCs harboured TERT promoter mutation. TERT promoter mutations were more commonly found in oral cavity cancer (prevalence = 47%, 95% CI: 33%-61%), followed by laryngeal/hypopharyngeal cancer (prevalence = 12%, 95% CI: 4%-25%), while they were quite rare in oropharyngeal cancer (prevalence = 1%, 95% CI: 0%-4%). TERT promoter mutation -124 C > T was associated with a higher risk of death (sHR = 2.01, 95% CI: 1.25-3.23) and progression (sHR = 2.79, 95% CI: 1.77-4.40), while -146 C > T TERT promoter mutation did not show any significant correlation neither to overall nor progression-free survival.
TERT promoter mutations were mainly topographically restricted to oral cavity cancer. -124 C > T was the most common TERT promoter mutation and was significantly associated to worse outcome in HNSCC.