Departments of Otolaryngology, Head and Neck Surgery, University of Tokyo, Tokyo, Japan.
Department of Integrative Genomics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Head Neck. 2023 Dec;45(12):3107-3118. doi: 10.1002/hed.27540. Epub 2023 Oct 10.
The importance of TERT promoter (pTERT) mutation of oral cavity squamous cell carcinoma (OCSCC) with clinical features and genetic alterations are not well recognized.
We retrospectively analyzed genetic data from multiple databases, including 260 cases from the C-CAT database, 407 cases from the MSK-MetTropism database, and 40 OCSCC datasets from in-house clinical samples.
From C-CAT database, TP53 (66%), CDKN2A (51%), and pTERT (29%) were the most frequent mutations observed. pTERT mutations were more prevalent in OCSCC (63%), younger individuals, and women (46%), with lower rates of alcohol abuse and smoking and co-mutated with TP53, HRAS, and CASP8. MSK-MetTroposim data validated with the enrichment of pTERT mutations in OCSCC, among women and Asian individuals. In-house datasets OCSCC with pTERT mutation (50%) characterized by fewer recurrent neck metastases.
The study suggests that OCSCC with pTERT mutation represents a distinct subgroup with unique clinical and genetic characteristics.
口腔鳞状细胞癌（OCSCC）中 TERT 启动子（pTERT）突变的临床特征和遗传改变的重要性尚未得到充分认识。
我们回顾性分析了来自多个数据库的遗传数据，包括 C-CAT 数据库中的 260 例、MSK-MetTropism 数据库中的 407 例和来自内部临床样本的 40 例 OCSCC 数据集。
从 C-CAT 数据库中观察到，TP53（66%）、CDKN2A（51%）和 pTERT（29%）是最常见的突变。pTERT 突变在 OCSCC 中更为常见（63%），在年轻个体和女性中更为常见（46%），饮酒和吸烟的发生率较低，与 TP53、HRAS 和 CASP8 共突变。MSK-MetTroposim 数据与 OCSCC 中 pTERT 突变的富集相吻合，尤其是在女性和亚洲人群中。内部 OCSCC 数据集的 pTERT 突变（50%）特征是颈部复发转移较少。
该研究表明，pTERT 突变的 OCSCC 代表了具有独特临床和遗传特征的一个独特亚组。
