IndraLab

"The Rotterdam Ocular Melanoma Study Group investigated the association of EIF1AX , SF3B1 and BAP1 mutation with disease-free survival and metastatic risk of patients with uveal melanoma. xref In their recent article, they published a Kaplan-Meier survival probability curve regarding these mutations."

"Uveal melanoma (UM) is a relative rare disease and has a high mortality rate due to metastasis in about half of all patients within 15 y after diagnosis. xref , xref , xref It is the most common primary intra‐ocular malignancy in adults in the Western world. xref UM specific mutations in the alpha subunit genes GNAQ and GNA11 are described as well as mutations in BAP1 , SF3B1 , and EIF1AX . xref , xref , xref Mutations in the latter 3 genes are found in ∼75% of all UM and are useful for prognostication of patients. xref , xref , xref BAP1 ‐mutated UM gives rise to early‐onset metastasis whereas SF3B1 ‐mutated UM gives rise to late‐onset metastasis and EIF1AX ‐mutated UM hardly metastasizes. xref Mutations in PLCB4 and CYSLTR2 are described in UM in a mutually exclusive manner to GNAQ or GNA11 mutations but so far have not been associated with prognosis. xref , xref Copy number alterations in chromosomes 1, 3, 6, and 8 are correlated with prognosis of the UM patient. xref , xref UM with EIF1AX , SF3B1 and BAP1 mutations are associated with unique chromosomal patterns, suggesting distinct UM subclasses."

"Other significantly mutated genes in UM are BAP1 , EIF1AX and SF3B1 , which also form a second mutually‐exclusive subgroup xref (Table  xref )."