title: Diagnosis and management of craniopharyngiomas in the era of genomics and targeted therapy.
abstract: Craniopharyngiomas are rare intracranial neoplasms that pose clinical challenges due to their location adjacent to vital structures. The authors have previously shown high mutation rates of BRAF V600E in papillary craniopharyngioma and of CTNNB1 in adamantinomatous craniopharyngioma. These activating driver mutations are potential therapeutic targets, and the authors have recently reported a significant response to BRAF/MEK inhibition in a patient with multiply recurrent PCP. As these targetable mutations warrant prospective research, the authors will be conducting a national National Cancer Institute-sponsored multicenter clinical trial to investigate BRAF/MEK inhibition in the treatment of craniopharyngioma. In this new era of genomic discovery, the treatment paradigm of craniopharyngioma is likely to change.
authors.affiliation: Division of Hematology and Oncology, Department of Medicine.|Division of Neuro-Oncology, Department of Neurology, and.|North Shore Medical Center, Salem, Massachusetts.
authors.forename: Juan Carlos
authors.initials: JC
authors.lastname: Martinez-Gutierrez
authors.affiliation: Division of Hematology and Oncology, Department of Medicine.|Division of Neuro-Oncology, Department of Neurology, and.
authors.forename: Megan R
authors.initials: MR
authors.lastname: D'Andrea
authors.affiliation: Department of Neurological Surgery, Massachusetts General Hospital, Boston.
authors.forename: Daniel P
authors.initials: DP
authors.lastname: Cahill
authors.affiliation: Department of Pathology, Brigham and Women's Hospital, Boston; and.
authors.forename: Sandro
authors.initials: S
authors.lastname: Santagata
authors.affiliation: Department of Neurological Surgery, Massachusetts General Hospital, Boston.
authors.forename: Fred G
authors.initials: FG
authors.lastname: Barker
authors.affiliation: Division of Hematology and Oncology, Department of Medicine.|Division of Neuro-Oncology, Department of Neurology, and.
authors.forename: Priscilla K
authors.initials: PK
authors.lastname: Brastianos
mesh_terms: D014408:Biomarkers, Tumor / Q000235:genetics; D002986:Clinical Trials as Topic / Q000379:methods; D003397:Craniopharyngioma / Q000000981:diagnostic imaging* / Q000235:genetics / Q000628:therapy*; D019468:Disease Management; D018390:Gene Targeting / Q000639:trends*; D023281:Genomics / Q000639:trends*; D006801:Humans; D009154:Mutation / Q000235:genetics; D010911:Pituitary Neoplasms / Q000000981:diagnostic imaging* / Q000235:genetics / Q000628:therapy*; D051176:beta Catenin / Q000235:genetics
chemical_list: D014408:Biomarkers, Tumor; C495270:CTNNB1 protein, human; D051176:beta Catenin
keywords: ACP = adamantinomatous craniopharyngioma; BRAF V600E; PCP = papillary craniopharyngioma; RCC = Rathke's cleft cyst; craniopharyngioma; genomics; targeted therapy