Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma

Abstract

Uveal melanoma is the most common primary cancer of the eye and often results in fatal metastasis. Here, we describe mutations occurring exclusively at codon 625 of the SF3B1 gene, encoding splicing factor 3B subunit 1, in low-grade uveal melanomas with good prognosis. Thus, uveal melanoma is among a small group of cancers associated with SF3B1 mutations, and these mutations denote a distinct molecular subset of uveal melanomas.

Figure 1

SF3B1 mutations in uveal melanoma. (a) Sanger sequence traces of representative tumor samples harboring wild type or mutant SF3B1 alleles at codon 625. (b) Kaplan-Meier survival plots of 102 uveal melanoma patients stratified by SF3B1 mutation status (top) and BAP1 mutation status (bottom).