Gene in eye melanomas indicates good outcome

January 28, 2013

A mutated gene in melanoma tumors of the eye may predict a positive prognosis, according to recent research.

A mutated gene in melanoma tumors of the eye may predict a positive prognosis, according to recent research.

Investigators with Washington University in St. Louis School of Medicine identified mutations in the gene SF3B1 in almost 20 percent of uveal melanoma tumors from 102 patients. They found that mutations in this gene were linked with favorable features, such as younger patient age at prognosis and low rate of metastasis, according to a news release.

The SF3B1 mutations were always found at the same site of the gene. More common in uveal melanomas is the mutated gene BAP1. Researchers determined that SF3B1 and BAP1 mutations were “almost mutually exclusive,” in that patients who had a mutation in one of the genes were not likely to have a mutation in the other gene.

“This suggests mutations in these genes may represent alternative pathways in tumor progression,” study authors noted.

The study was published online in Nature Genetics.