Study finds targetable mutation in rare brain tumor

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Posted January 13, 2014
CT of a craniopharyngioma. This unenhanced CT shows a calcified cystic structure in the supra sellar region, together with hydrocephalus. Credit: doi:10.1186/1750-1172-2-18 (via Wikipedia)
A team led by investigators from Massachusetts General Hospital (MGH), Brigham and Women’s Hospital (BWH) and the Broad Institute has found that a gene mutation associated with several types of cancer also may be responsible for a rare but debilitating brain tumor called papillary craniopharyngioma. Their discovery, reported online in Nature Genetics, could lead to new therapies for this currently hard-to-treat tumor.


“We were delighted to find that the same BRAF mutation previously described in melanomas and other brain tumors appears to be driving the growth of these tumors,” says Priscilla Brastianos, MD, of the MGH Cancer Center and the Broad Institute, co-corresponding author of the report. “BRAF inhibitors have shown great promise in treating patients with other tumors with this mutation, and we hope to quickly evaluate these drugs in patients with papillary craniopharyngioma in hopes of reducing the serious consequences of this disease.”

Craniopharyngiomas arise at the base of the skull adjacent to the pituitary gland, the hypothalamus and other critical brain structures. Although they are not inherently aggressive tumors, because of their location they can significantly compromise vision and other neurologic and endocrine functions. The tumors cling to brain structures, usually making surgical removal challenging, and radiation therapy can cause vascular abnormalities or other tumors.

Read more at: MedicalXpress

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