口腔鳞状细胞癌（OSCC）是头颈鳞状细胞癌（HNSCC）最常见的亚型。由于缺乏确定的治疗靶点，目前 OSCC 的治疗选择有限。在本研究中，我们旨在分析日本 OSCC 患者的基因组图谱，并将其与 HNSCC 患者的基因组图谱进行比较，以确定潜在的治疗靶点。我们提取了 OSCC 患者 (n = 242) 和其他 HNSCC (n = 402) 在 2019 年 6 月至 2024 年 4 月期间根据国家健康保险从癌症基因组学和治疗中心数据库中接受了全面的基因组分析测试。 OSCC 中发现的最常见的基因组改变是 TP53 (85.5%)，其次是由 TERT (62.4%)、CDKN2A (41.3%)、FGF19 (24.9%) 和 CCND1 (23.6%) 组成。 FGF19 和 CCND1 共同扩增，CDKN2A 和 CDKN2B 共同缺失。在所有 HNSCC 亚型中，OSCC 中 TERT、HRAS 和 CASP8 突变的频率最高。青少年和年轻人的 EGFR 改变频率明显高于老年 OSCC 患者。与基因组完整性和 RTK-RAS 通路相关的基因在 OSCC 中经常发生改变。本研究分析了日本 OSCC 患者的基因组图谱以及 OSCC 与其他 HNSCC 亚型之间的遗传差异。该分析为 OSCC 个性化治疗的开发提供了见解。版权所有 © 2024 作者。由爱思唯尔有限公司出版。保留所有权利。

Oral squamous cell carcinoma (OSCC) is the most common subtype of head and neck squamous cell carcinoma (HNSCC). Treatment options for OSCC are currently limited owing to the lack of identified therapeutic targets. In this study, we aimed to analyze the genomic profiles of Japanese patients with OSCC and compare them to those of patients with HNSCC to identify potential therapeutic targets.We extracted the clinical and genomic information of patients with OSCC (n = 242) and those with other HNSCC (n = 402) who underwent comprehensive genomic profiling tests under the National Health Insurance between June 2019 and April 2024 from the Center for Cancer Genomics and Therapeutics database.The most frequent genomic alterations identified in OSCC were TP53 (85.5 %), followed by TERT (62.4 %), CDKN2A (41.3 %), FGF19 (24.9 %), and CCND1 (23.6 %). FGF19 and CCND1 were co-amplified, and CDKN2A and CDKN2B were co-deleted. The frequencies of TERT, HRAS, and CASP8 alterations were the highest in OSCC among all HNSCC subtypes. The frequency of EGFR alterations was substantially higher in adolescent and young adults than older patients with OSCC. Genes associated with genomic integrity and the RTK-RAS pathway were frequently altered in OSCC.This study analyzed the genomic profiles of patients with OSCC in Japan and the genetic differences between OSCC and other HNSCC subtypes. This analysis offers insights into the development of personalized therapeutics for OSCC.Copyright © 2024 The Authors. Published by Elsevier Ltd.. All rights reserved.