Comparison of uveal melanoma molecular classification systems

Purpose: to compare cytogenetic and mutational classifications of uveal melanoma (UM) in comprehensive analysis. Material and Methods. UM tissue from 154 eyes treated by enucleation or eye-sparing treatment was analyzed. Analysis included FISH for monosomy 3 and 8q gain, PCR for GNAQ, GNA11, EIF1AX and SF3B1 mutations and immunohistochemistry for BAP1. The group of 66 patients was used to compare cytogenetic and mutational classifications of uveal melanoma. Results. Discrepancy between cytogenetic and mutational classifications was revealed in 79% of cases. Unusual combination of EIF1 AX mutation with monosomy 3 or BAP1 inactivation was seen. Conclusion. Prognostic significance of the discrepancy between the two UM classifications is currently unknown. Further research is needed.