日本口服鳞状细胞癌的突变景观来自全面的基因组分析测试
Mutational landscape of Japanese patients with oral squamous cell carcinoma from comprehensive genomic profiling tests
影响因子:3.90000
分区:医学2区 / 牙科与口腔外科2区 肿瘤学3区
发表日期:2024 Dec
作者:
Norihisa Ichimura, Yusuke Urata, Takeru Kobayashi, Ryo Ebata, Hiroya Matsumoto, Hideharu Hibi
摘要
口服鳞状细胞癌（OSCC）是头和颈部鳞状细胞癌（HNSCC）最常见的亚型。由于缺乏确定的治疗靶标，OSCC的治疗方案目前受到限制。在这项研究中，我们旨在分析日本OSCC患者的基因组谱，并将其与HNSCC患者的基因组谱进行比较，以识别潜在的治疗靶点。我们提取了OSCC患者的临床和基因组信息（n = 242）（n = 242）（n = 242），以及其他HNSCC（n = 402）（n = 402）的综合综合性综合保险（6月9日）的临床和基因组信息。 Therapeutics数据库。在OSCC中鉴定出的最常见的基因组改变为TP53（85.5％），其次是TERT（62.4％），CDKN2A（41.3％），FGF19（24.9％）和CCND1（23.6％）。 FGF19和CCND1被共扩散，CDKN2A和CDKN2B被共删除。在所有HNSCC亚型中，TERT，HRA和CASP8变化的频率是OSCC中最高的。在青少年和年轻人中，EGFR改变的频率大大高于OSCC的老年患者。 OSCC中经常改变与基因组完整性和RTK-RAS途径相关的基因。这项研究分析了日本OSCC患者的基因组谱以及OSCC与其他HNSCC亚型之间的遗传差异。该分析为OSCC的个性化治疗剂的开发提供了见解。
Abstract
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.