Mutation discovery may help detect rare brain tumor

Posted Jan 23, 2014 by Tim Sandle
Researchers have identified a mutated gene that causes a type of brain tumor that can have devastating lifelong effects. Currently, the tumor can only be treated with challenging repeated surgeries and radiation.
Screenshot from a video about NDM-1  possibly an image of the gene.
Screenshot from a video about NDM-1, possibly an image of the gene.
YouTube video capture
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”.