GNQ-209PMutation in Metastatic Uveal Melanoma andTreatment Outcome

Metastatic prognosis in uveal melanoma is assessed by gene expression profiling (GEP) testing of the tumor cells, usually obtainedby fine needle aspiration (FNA). GEP has demonstrated high accuracy in distinguishing class I and II tumors, both havingdifferent metastatic potential. Transcriptomic studies identified distinct mutations including somatic mutations inGNAQandGNA11, detected in more than 80%, and contribute to the upregulation of the mitogen-activated protein kinase (MAPK) pathwayand the development of uveal melanoma (UM). *e role of these mutations in treatment selection and possible benefit fromtargeted therapy are somewhat unclear. However, until the discovery of novel agents, local versus systemic therapies remainoptions for treatment that can still be considered for disease control in certain cases. We report a series of patients with metastaticUM with distinct mutational profiles. One had significant liver metastases with provenGNQ-209Pmutation on tissue biopsy whileperipheral blood molecular profiling did not show these mutations. *e other three cases had noGNQ-209Pmutation. All casesreceived nab-paclitaxel (Abraxane) as a treatment drug, and we record their responses to treatment and their molecular-profiling results.