CDKN2A
医学
癌
癌症
腺样囊性癌
基因组学
内科学
肿瘤科
涎腺导管癌
数据库
病理
生物信息学
基因
基因组
生物
遗传学
计算机科学
作者
Sho Iwaki,Daisuke Kawakita,Toshitaka Nagao,Yuichiro Tada,Yoshitaka Honma,Mizuo Ando,Takuma Matoba,Kiyoshi Minohara,Satsuki Nakano,Takayuki Murase,Shinichi Iwasaki,Hiroshi Inagaki
摘要
Abstract Comprehensive information on genetic alterations in salivary gland cancer (SGC) is limited. This study aimed to elucidate the genetic and clinical characteristics of patients with SGC using the Center for Cancer Genomics and Advanced Therapeutics (C‐CAT) database, a Japanese national genomic database. We analyzed data of 776 patients with SGC registered in the C‐CAT database between June 1, 2019, and June 30, 2023. Adenoid cystic carcinoma was the most common histologic type, followed by salivary duct carcinoma (SDC) and adenocarcinoma not otherwise specified. Genetic data of 681 patients receiving FoundationOne® CDx were analyzed. We identified specific features of the combination of TP53 and CDKN2A alterations among the histological types. Specific LYN amplification was mainly detected in carcinoma ex pleomorphic adenoma and myoepithelial carcinoma. For SDC, the frequency of ERBB2 and BRAF alterations were higher in cases with metastatic lesions than in those with primary lesions. Although 28.6% patients were offered recommended treatment options, only 6.8% received the recommended treatments. This study highlights the differences in genetic alterations among the histological types of SGC, with comprehensive genomic profiling tests revealing lower drug accessibility. These findings could contribute to the development of personalized treatment for patients with SGC.
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