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日本癌症基因组学与先进治疗学中心数据库中唾液腺癌的全面基因组分析。

Comprehensive genomic profiling of salivary gland carcinoma: Analysis of the Center for Cancer Genomics and Advanced Therapeutics database in Japan.

机构信息

Department of Otorhinolaryngology, Head and Neck Surgery, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

Department of Pathology and Molecular Diagnosis, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

出版信息

Int J Cancer. 2024 Sep 1;155(5):871-882. doi: 10.1002/ijc.34972. Epub 2024 Apr 30.

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.

摘要

关于唾液腺癌 (SGC) 遗传改变的综合信息有限。本研究旨在利用日本国家基因组数据库——癌症基因组中心和先进治疗学中心 (C-CAT) 数据库,阐明 SGC 患者的遗传和临床特征。我们分析了 2019 年 6 月 1 日至 2023 年 6 月 30 日期间在 C-CAT 数据库中登记的 776 名 SGC 患者的数据。腺样囊性癌是最常见的组织学类型,其次是唾液导管癌 (SDC) 和非特指型腺癌。对 681 名接受 FoundationOne® CDx 的患者进行了基因数据分析。我们确定了组织学类型中 TP53 和 CDKN2A 改变组合的特定特征。特定的 LYN 扩增主要在多形性腺癌和肌上皮癌中检测到。对于 SDC,转移性病变患者的 ERBB2 和 BRAF 改变频率高于原发性病变患者。尽管 28.6%的患者提供了推荐的治疗方案,但只有 6.8%的患者接受了推荐的治疗。本研究强调了 SGC 不同组织学类型之间遗传改变的差异,全面的基因组分析测试显示药物可及性较低。这些发现可能有助于为 SGC 患者制定个性化治疗方案。

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