Mutation profiling of uveal melanoma genes reveals significantly different patient prognosis

Researchers, based at the University of Pennsylvania, have shown that patients with a particular uveal melanoma mutational profile may carry a 10-fold increased risk of metastasis within 48 months. The recent data builds on previous genetic profiling and cytogenetic analysis which had shown that a regulatory enzyme referred to as BAP1 is mutated in cases of high metastatic risk while a translation initiation factor, EIF1AX, and a splicing factor, SF3B1, appeared to be more associated with a low metastatic risk. Combining the genetic predictors with chromosomal 3 status is expected to facilitate more accurate prognoses and risk management strategies in the clinical care of uveal melanoma.