Genetic alterations that act as drivers of craniopharyngiomas - benign tumors that can lead to adverse outcomes such as severe headaches, sleep disorders, visual defects and obesity - are reported this week in Nature Genetics. The work identifies key pathways underlying these rare brain tumors and targets for drug development.
Gad Getz, Sandro Santagata and colleagues sequenced the protein-coding regions of craniopharyngioma tumors from 15 patients, and followed with additional targeted sequencing of 98 tumors from another 95 patients. They identified recurrent alterations in two genes in a high percentage of craniopharyngiomas. Alterations in CTTNB1 were found in 96% of adamantinomatous tumors, a subtype more common in children, while a recurrent alteration in BRAF was found in 95% of papillary tumors, more common in adults. This is the first reported genetic alteration associated with the papillary subtype. This discovery may aid clinicians in diagnosing patients with craniopharyngiomas.