Mutational Analysis in Patients with Uveal Melanomas. Evidence for Clonal Evolution

      Аннотация: There is no standard treatment for the advanced and metastatic uveal melanoma so far, genotypic characterization of uveal melanoma might identify patients who could benefit from a drug-target based approach. In our study, mutations in genes GNAQ and GNA11, BRAF, NRAS, and KIT in primary and matched metastatic uveal melanoma specimens were evaluated. Statistical analysis was carried out to evaluate correlation between mutational status and clinico-pathological parameters. Results from this study showed 85.5% of primary uveal melanomas have mutations either in GNAQ or GNA11. No association was found between mutational status and prognostic parameters. GNAQ or GNA11 mutations are common in metastases, but further mutations can be acquired suggestive of cancer clonal evolution.

Ключевые слова: mutational analysis, Ocular melanoma