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Daniel L Chao, J William Harbour; Relationships between clinical features, molecular classification, 4-gene mutation profile and outcomes in uveal melanoma. Invest. Ophthalmol. Vis. Sci. 2014;55(13):1286.
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© ARVO (1962-2015); The Authors (2016-present)
To analyze the relationships between clinical features, gene expression profile (GEP) molecular classification, and mutation status of four driver mutations in uveal melanoma.
70 primary untreated uveal melanomas underwent GEP classification and mutational analysis for GNAQ, GNA11, BAP1, SF3B1 mutations. GEP and mutation status were analyzed for association with patient age and sex, tumor diameter and thickness, ciliary body involvement, extraocular tumor extension, histological cell type, and metastasis.
GNAQ and GNA11 mutations were found in a mutually exclusive fashion in 85% of samples. BAP1 mutations were found almost exclusively in class 2 tumors and were associated with class 2 GEP, older patient age, ciliary body involvement, increased tumor diameter and thickness and epithelioid cell type. SF3B1 mutations were inversely associated with class 2 GEP, BAP1 mutations, and epithelioid cell type.
The relationships between GEP classification and the four driver mutations point out the two major pathways of uveal melanoma progression (class 1/SF3B1 versus class 2/BAP1 pathways), and provide a basis for rational drug selection for treating metastatic uveal melanoma.
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