Boscolo-Rizzo Paolo, Tirelli Giancarlo, Polesel Jerry, Sia Egidio, Phillips Veronica, Borsetto Daniele, De Rossi Anita, Giunco Silvia
Department of Medical, Surgical and Health Sciences, Section of Otolaryngology, University of Trieste, Trieste, Italy.
Department of Medical, Surgical and Health Sciences, Section of Otolaryngology, University of Trieste, Trieste, Italy.
Oral Oncol. 2023 May;140:106398. doi: 10.1016/j.oraloncology.2023.106398. Epub 2023 Apr 17.
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.
评估头颈部鳞状细胞癌（HNSCC）中两种最常见且相互排斥的TERT启动子突变-124 C>T和-146 C>T的发生率，并分析其预后作用。
检索Medline（通过Ovid）、Embase（通过Ovid）、Cochrane图书馆、Scopus和科学网（核心合集）数据库，从建库至2022年12月，以识别分析HNSCC中TERT启动子突变的研究。估计TERT启动子突变的合并发生率以及死亡/进展的风险比（标准化风险比）及其相应的置信区间（CI）。
初步检索返回6416篇文章，其中17项研究（包括1830例患者）符合发生率荟萃分析的标准。其中，8项研究符合纳入标准以分析TERT启动子突变的预后影响。总体而言，21%（95%CI：12%-31%）的HNSCC存在TERT启动子突变。TERT启动子突变在口腔癌中更常见（发生率=47%，95%CI：33%-至61%），其次是喉/下咽癌（发生率=12%，95%CI：4%-25%），而在口咽癌中则相当罕见（发生率=1%，95%CI：0%-4%）。TERT启动子突变-124 C>T与更高的死亡风险（标准化风险比=2.01，95%CI：1.25-3.23）和进展风险（标准化风险比=2.79，95%CI：1.77-4.40）相关，而-146 C>T TERT启动子突变与总生存期或无进展生存期均无显著相关性。
TERT启动子突变主要在地形上局限于口腔癌。-124 C>T是最常见的TERT启动子突变，并且与HNSCC中更差的预后显著相关。
