Mutations with prognostic value in uveal melanoma: analytical study of variants detected by targeted next-generation sequencing.

A total of 231 pathogenic variants were identified across 28 genes.

In multivariable Cox analysis, larger tumour size (HR = 3.07), and higher mitotic index (HR = 1.31) were significantly associated with increased metastatic risk, along with mutations in BAP1, CHEK2, and DICER1.

Logistic regression showed that BAP1 and LRP1B mutations were associated with epithelioid/mixed histology, while SF3B1 mutation was associated with spindle cell morphology.