Key gene discovered in rare brain tumors

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Researchers have discovered a mutated gene that causes a type of tenacious, benign brain tumor that can have serious lifelong effects.

Researchers at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, Massachusetts General Hospital, and the Broad Institute of MIT and Harvard believe their discovery is encouraging because it may be possible to attack the tumors with targeted drugs already in use for other kinds of tumors. The mutated gene, called BRAF, was found in all samples of tumors called papillary craniopharyngiomas. The investigators were surprised to discover that the mutated BRAF gene was the sole driver of 95 percent of the papillary craniopharyngiomas they had analyzed, instead of multiple mutations.

“From a clinical perspective, identifying the BRAF mutation in the papillary tumors is really wonderful, because we have drugs that get into the brain and inhibit this pathway,” Sandro Santagata, MD, PhD, a co-senior author, was quoted as saying. "Previously, there were no medical treatments—only surgery and radiation—and now we may be able to go from this discovery right to a well-established drug therapy."

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