[Patients with papillary craniopharyngioma successfully treated with BRAF and MEK inhibitors]

Craniopharyngioma is a rare brain epithelial tumor infiltrating the hypothalamus causing visual loss, panhypopituitarism, cognitive deficits and obesity. 94% of papillary craniopharyngiomas harbour a BRAF mutation. Two patients with PCP and BRAF V600E mutation, with different tumor status, were treated with BRAF and MEK inhibitors. Case I is a male diagnosed with biopsy and treated for 16 months with BRAF and MEK inhibitors. After 12 months of treatment the tumor volume decreased from 2 220 mm3 to 90 mm3. The patient was treated with fractionated cranial irradiation (54 Gy) and has been without recurrence during two years' follow-up. Case II is a female patient with four surgeries due to recurrent papillar craniopharyngioma with BRAF V600E mutation. Due to further recurrence she received BRAF and MEK inhibitors for 31 months, and evaluation with MRI demonstrated a volume reduction from 633 mm3 to 483 mm3. The visual acuity in her left eye improved from 0.05 to 0.3. She is currently off treatment without recurrence.