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Uveal melanoma

Uveal melanoma (UM) is the most frequently occurring primary tumor in the eye, with an incidence of 7 per million every year in the Western world. Approximately 50% of all patients will die of metastatic disease. Several prognostic factors have been reported in UM of which the most promising are cytogenetic anomalies. Structural abnormalities on chromosomes 3, 6, and 8q have been linked to metastatic death. Although these associations are rather strong, they are not specific or sensitive enough for the prediction of clinical outcome. Next generation sequencing has revealed  non-random mutations in several genes such as GNAQ, GNA11, BAP1, SF3B1 or EIF1AX.These mutations have like gene expression profiling been associated with  different  tumour classes with a strong correlation with survival. This enabled us to select patients eligible for immunotherapy and in collaboration with NLS in Nijmegen a patient trial  is in progress. Our research is focused on a further characterization of the involved chromosomal regions and the epigenetic mechanism such as miRNA and mRNA expression and the role of DNA methylation.





*Rotterdam Ocular Melanoma Study Group (ROMS) is a collaborative research group with members from the Rotterdam Eye Hospital, Departments of Ophthalmology, Pathology and Clinical Genetics, of the Erasmus MC, Rotterdam, the Netherlands (http://www6.erasmusmc.nl/oogheelkunde/research/ROMS/).