Interestingly, SF3B1 mutations always occurred at the same site of the gene. And the SF3B1 and BAP1 mutations were found to be almost mutually exclusive, meaning that if patients had a mutation in one of the genes, they were unlikely to have a mutation in the other.
"This suggests mutations in these genes may represent alternative pathways in tumor progression," Bowcock says.
The SF3B1 gene also has been reported recently by other researchers to be mutated in a pre-leukemia illness called myelodysplastic syndrome. For these patients, SF3B1 mutations mean the condition is less likely to develop into a full-blown leukemia. Changes in the SF3B1 gene also have been found in chronic lymphocytic leukemia and less frequently in breast cancer and other solid tumors. The gene's link to prognosis is unclear for these cancers.
Normally, the SF3B1 gene is involved in converting DNA's chemical cousin, RNA, into messenger RNA. This messenger molecule carries DNA's code and serves as a template for making proteins. The researchers don't yet understand how mutations in this gene are involved in cancer but it's the next step of their research.
"We want to understand the functional consequences of mutations in SF3B1," Bowcock says. "How are changes in this gene linked to cancer development? This is the fourth gene known to be mutated in uveal melanoma along with BAP1 and the genes GNAQ and GNA11. A complete understanding of the molecular basis of this tumor will be invaluable in predicting prognosis and in the identification and development of novel treatments for this cancer."
|Contact: Caroline Arbanas|
Washington University School of Medicine