Pronounced response of papillary craniopharyngioma to treatment with vemurafenib, a BRAF inhibitor

The BRAF V600E mutation has recently been identified in a high percentage of papillary craniopharyngiomas 1, 2. The V600E mutation constitutively activates the MEK-ERK pathway, and the mutation-specific BRAF inhibitor vemurafenib, which targets mutated BRAF, is effective in malignant melanoma 3. The use of vemurafenib in malignancy now includes hairy cell leukaemia which frequently carries the same mutation, thereby demonstrating that the agent targets the pathway rather than the specific tumor type 4. Papillary craniopharyngiomas are histologically benign but cause substantial morbidity due to visual loss, pituitary dysfunction, diabetes insipidus and hypothalamic disturbance. We report the first successful use of the BRAF inhibitor vemurafenib in a patient with progressive visual failure due to a recurrent papillary craniopharyngioma, thereby supporting the evidence that the BRAF V600E mutation is pathological in this condition.