Genomic profiles of patients with skin melanoma in the era of immune checkpoint inhibitors.

ABSTRACT: The use of immune checkpoint inhibitors (ICIs) for treating melanoma has dramatically improved patient prognosis. The genomic profiles of patients receiving ICI therapy would provide valuable information for disease management and treatment. We investigated the genomic profiles of patients with melanoma who had received ICI therapy and explored associations with clinical features and outcomes via a large-scale nationwide database in Japan (the C-CAT database). We identified 339 patients eligible for this study. The most frequent genetic mutations were found in the BRAF (27%), TERT (24%), and NRAS (19%) genes, and the most common copy number variations (CNVs) were in the CDKN2A (36%), CDKN2B (26%), and MTAP (19%) genes. Associations with high tumor mutational burden (TMB-high) status were s

SUBMITTER: Liang Y 

PROVIDER: S-EPMC11967263 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature