Uveal melanoma is the most common intraocular tumor that has a strong propensity for fatal metastasis. Extra ocular extension, recurrence, and metastasis are associated with an extremely poor prognosis. There is no standard treatment for the advanced and metastatic disease so far. Genotypic characterization of UM might identify patients who could benefit from a drug-target based approach. The present investigation studies the GNAQ, GNA11, BRAF, NRAS and KIT mutational status in a large series of uveal melanomas patients and evaluates their possible associations with clinicopathological prognostic parameters. In order to assess for clonal evolution matched metastatic tissue have been also analyzed in 6 selected patients. Our findings showed that, mutations in GNAQ or GNA11 are common in primary UM, whereas BRAF, NRAS and KIT are rare. Genes GNAQ, GNA11 and BRAF are concordant in the majority of the cases between primary and metastasis tumors, acquisition of further mutations in these genes can occur during tumor progression.
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