Early Genetic Evolution of Driver Mutations in Uveal Melanoma.

ABSTRACT: Uveal melanoma (UM) is an aggressive cancer of the eye that frequently results in metastatic death. UMs are most likely to metastasize when they are small, at a time when they are difficult to distinguish from benign nevi and often observed without treatment. Unfortunately, little is known about the early genetic evolution of UM or potential biomarkers to indicate small tumors undergoing malignant transformation. Here, we performed targeted next generation sequencing for the 7 canonical UM driver mutations in 1140 primary UMs, including 131 small early-stage tumors. We found that the evolutionary burst of genetic aberrations that determines the archetypal UM subtypes and metastatic propensity has already occurred by the time most small tumors are biopsied, although a significantly larger p

SUBMITTER: Dollar JJ 

PROVIDER: S-EPMC12204427 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature