The mutation gene identified is called
BRAF. This related to was found in almost all samples of tumors called papillary craniopharyngiomas. This is a tumor that develops in the base of the brain near the pituitary gland, hypothalamus, and optic nerves. The papillary craniopharyngiomas occur mainly in adults. The BRAF gene is involved in sending signals inside cells, which are involved in directing cell growth.
The
significance of the research is that it now may be possible to attack the tumors with targeted drugs already in use for other kinds of tumors. This includes drugs that can get into the brain and inhibit the particular pathway.
The research was led by Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Massachusetts General Hospital, and the Broad Institute of MIT and Harvard. The findings have been reported in
Nature Genetics. The
paper is titled “Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas”.
