Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma
A partir de 18 échantillons tumoraux prélevés sur des patients atteints d'un mélanome de l'uvée, cette étude identifie la présence de mutations localisées exclusivement sur le codon 625 du gène SF3B1
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.