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端粒酶逆转录酶(TERT)启动子突变与口腔鳞状细胞癌的关联:一项系统评价和荟萃分析

Association of TERT promoter mutation with oral squamous cell carcinoma: a systematic review and meta-analysis.

作者信息

Yuwanati Monal, Sarode Sachin, Sarode Gargi, Gadbail Amol, Gondivkar Shailesh, Chaurasia Akhilanand, Dwivedi Dhara, Delgadillo-Barrera Sara

机构信息

Saveetha Institute of Medical and Technical Sciences, Saveetha Dental College and Hospitals, Saveetha University, Chennai, 600077, India.

Dr. D.Y. Patil Dental College & Hospital, Dr. D.Y. Patil Vidyapeeth, Maharashtra State, Pune, India.

出版信息

Sci Rep. 2025 Apr 30;15(1):15257. doi: 10.1038/s41598-025-98133-6.

Abstract

The telomerase reverse transcriptase (TERT) promoter mutations have been linked to the prognosis and survival of several cancers; however, it is still debatable in case of oral squamous cell carcinoma. The exact reason for it is currently unknown. However, considering its role in cell survival and proliferation it is imperative to evaluate the association between TERT promoter mutations and OSCC. The systematic review and meta-analysis were carried out to gather evidence for TERT promotor mutation in OSCC. Electronic databases along with grey literature were searched for relevant studies. We used fixed- or random-effect models to calculate pooled proportion, estimated odds ratios or standardized mean differences, and corresponding 95% confidence intervals (CIs). We included 13 eligible studies incorporating 816 cases. The average frequency of TERT promotor mutation was 46.1% (0.46, 95% CI, 0.33, 0.60). However, TERT promoter mutations were not associated with gender, habit (smoking and betel nut), nodal involvement, metastases, and TNM stage. C228T (189/287), C250T (73/287), C228A, and other variants of TERT mutation were frequently detected TERT mutation variant in OSCC. TERT promoter mutations could be considered as biomarkers assisting in risk stratification and prognostic prediction.

摘要

端粒酶逆转录酶(TERT)启动子突变与多种癌症的预后和生存相关;然而,在口腔鳞状细胞癌中情况仍存在争议。其确切原因目前尚不清楚。然而,考虑到其在细胞存活和增殖中的作用,评估TERT启动子突变与口腔鳞状细胞癌之间的关联势在必行。我们进行了系统评价和荟萃分析,以收集口腔鳞状细胞癌中TERT启动子突变的证据。我们检索了电子数据库以及灰色文献中的相关研究。我们使用固定效应或随机效应模型来计算合并比例、估计比值比或标准化均数差以及相应的95%置信区间(CI)。我们纳入了13项符合条件的研究,共816例病例。TERT启动子突变的平均频率为46.1%(0.46,95%CI,0.33,0.60)。然而,TERT启动子突变与性别、习惯(吸烟和嚼槟榔)、淋巴结受累、转移及TNM分期无关。C228T(189/287)、C250T(73/287)、C228A以及TERT突变的其他变体是口腔鳞状细胞癌中经常检测到的TERT突变变体。TERT启动子突变可被视为有助于风险分层和预后预测的生物标志物。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/86a1/12043803/5a9c29f73aa8/41598_2025_98133_Fig1_HTML.jpg

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