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Gene in eye melanomas linked to good prognosis

Melanomas that develop in the eye often are fatal. Now, scientists at Washington University School of Medicine in St. Louis report they have identified a mutated gene in melanoma tumors of the eye that appears to predict a good outcome.

The research is published in the advance online edition of Nature Genetics.

"We found mutations in a gene called SF3B1," says senior author Anne Bowcock, PhD, professor of genetics. "The good news is that these mutations develop in a distinct subtype of melanomas in the eye that are unlikely to spread and become deadly."

Eye tumors called uveal melanomas occur in about 2,000 patients a year, making up about 5 percent of all melanomas. In many patients, there are no symptoms, and the tumors become fatal when they spread to the liver.

Several years ago, Bowcock and the study's lead author, J. William Harbour, MD, a former Washington University eye surgeon who is now at the University of Miami, identified a commonly mutated gene, BAP1, in patients with uveal melanomas.

They found BAP1 alterations in about 80 percent of uveal melanomas with a poor prognosis, called class II tumors. About 75 percent of patients with these tumors die within five years, a sharp contrast to the generally favorable outcomes of patients whose tumors don't have BAP1 mutations, called class I.

For the new study, Bowcock and her colleagues initially sequenced the DNA of uveal melanomas from 18 patients whose BAP1 status was already known. Seven had no BAP1 mutations (class I tumors), and 11 had BAP1 mutations (class II tumors).

The researchers' analysis uncovered alterations in the SF3B1 gene in three of the patients.

"This is the first time mutations in this gene have been found in uveal melanoma," says Bowcock, who also is a professor of pediatrics and of medicine.

As part of the current study, the researchers also looked for SF3B1 mutations in uveal melanoma tumors f

Contact: Caroline Arbanas
Washington University School of Medicine

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