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

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.

Keywords: Center for Cancer Genomics and Advanced Therapeutics; comprehensive genomic profiling; drug accessibility; genetic alteration; salivary gland carcinomas.

MeSH terms

  • Adenocarcinoma / genetics
  • Adenocarcinoma / pathology
  • Adenocarcinoma / therapy
  • Adult
  • Aged
  • Aged, 80 and over
  • Carcinoma, Adenoid Cystic / genetics
  • Carcinoma, Adenoid Cystic / pathology
  • Carcinoma, Ductal / genetics
  • Carcinoma, Ductal / pathology
  • Carcinoma, Ductal / therapy
  • Cyclin-Dependent Kinase Inhibitor p16 / genetics
  • Databases, Genetic
  • Female
  • Genomics / methods
  • Humans
  • Japan / epidemiology
  • Male
  • Middle Aged
  • Proto-Oncogene Proteins B-raf / genetics
  • Receptor, ErbB-2 / genetics
  • Salivary Gland Neoplasms* / genetics
  • Salivary Gland Neoplasms* / pathology
  • Salivary Gland Neoplasms* / therapy
  • Tumor Suppressor Protein p53 / genetics
  • Young Adult

Substances

  • Receptor, ErbB-2
  • Cyclin-Dependent Kinase Inhibitor p16
  • ERBB2 protein, human
  • Tumor Suppressor Protein p53
  • CDKN2A protein, human
  • TP53 protein, human
  • Proto-Oncogene Proteins B-raf
  • BRAF protein, human