Modelling Acral Melanoma in Admixed Brazilians Uncovers Genomic Drivers and Targetable Pathways.

ABSTRACT: Acral melanoma (AM) is an aggressive melanoma subtype with limited therapeutic options and poor outcomes. In non-European descent and admixed populations, like those residing in Latin America, AM accounts for a significant proportion of cutaneous melanoma cases. Here, we performed comprehensive genomic and functional profiling of AM from a uniquely diverse Brazilian cohort. Whole-exome and transcriptome sequencing revealed low mutation burden and predominance of copy number alterations, including high-amplitude focal amplifications termed hailstorms. These hailstorms frequently affected chromosomes 11, 5 and 22 and key oncogenes such as CCND1, GAB2, CDK4, and TERT. The presence of hailstorms in the long arms of chromosomes 11 and 22 was associated with higher fo

SUBMITTER: Sousa-Squiavinato ACM 

PROVIDER: S-EPMC12363704 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature