端粒酶逆转录酶（TERT）基因启动子区突变与头颈部鳞状细胞癌。
Promoter region mutations of the telomerase reverse transcriptase (TERT) gene in head and neck squamous cell carcinoma.
机构信息
Department of Pathology, Sultan Abdulhamid Han Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.
Department of Otorhinolaryngology, Gulhane Medical School, Sultan Abdulhamid Han Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.
出版信息
Oral Surg Oral Med Oral Pathol Oral Radiol. 2020 Jul;130(1):63-70. doi: 10.1016/j.oooo.2020.02.015. Epub 2020 May 11.
OBJECTIVE
The aim of the present study was to assess the prevalence of TERT promoter region mutations in tumor samples of patients with squamous cell carcinoma at different sites of the head and neck region and correlate it with patients' clinicopathologic data.
STUDY DESIGN
Mutations in promoter region of the TERT gene were analyzed with polymerase chain reaction-based direct sequencing method using formalin-fixed, paraffin-embedded tumor samples of 189 HNSCCs. TERT promoter region mutations were assessed in terms of age, gender, location, smoking, alcohol consumption, and overall survival.
RESULTS
TERT promoter region mutations were detected in the oral cavity (75%); larynx (8.4%), hypopharynx (16.6%), and oropharynx (0%). TERT promoter region mutations are associated with younger age and female gender and have a reverse relationship with smoking and alcohol consumption.
CONCLUSIONS
We found statistically significant higher rates of TERT promoter region mutations in tumor samples of patients with squamous cell carcinoma in the oral cavity compared with other locations in the head and neck region.
目的
本研究旨在评估 TERT 启动子区域突变在头颈部不同部位鳞状细胞癌患者肿瘤样本中的发生率，并将其与患者的临床病理数据相关联。
研究设计
采用聚合酶链反应直接测序法，对 189 例 HNSCC 患者的福尔马林固定、石蜡包埋肿瘤样本进行 TERT 基因启动子区域突变分析。根据年龄、性别、部位、吸烟、饮酒和总生存期评估 TERT 启动子区域突变。
结果
在口腔（75%）、喉（8.4%）、下咽（16.6%）和口咽（0%）中检测到 TERT 启动子区域突变。TERT 启动子区域突变与年龄较小和女性有关，与吸烟和饮酒呈负相关。
结论
我们发现口腔鳞状细胞癌患者肿瘤样本中 TERT 启动子区域突变的发生率明显高于头颈部其他部位。
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