Since the first identification of CTNNB1 mutations in adamantinomatous craniopharyngioma (ACP), much has been learned about the molecular pathways and processes that are disrupted in ACP pathogenesis. To date this understanding has not translated into tangible patient benefit. The recent development of novel techniques and a range of preclinical models now provides an opportunity to begin to support treatment decisions and develop new therapeutics based on molecular pathology. In this review the authors summarize many of the key findings and pathways implicated in ACP pathogenesis and discuss the challenges that need to be tackled to translate these basic science findings for the benefit of patients.
Keywords: ACP = adamantinomatous craniopharyngioma; BMP = bone morphogenetic protein; EGFR = epidermal growth factor receptor; FGF = fibroblast growth factor; PCP = papillary craniopharyngioma; SHH = sonic hedgehog; TNF = tumor necrosis factor; adamantinomatous craniopharyngioma; cfDNA = cell-free DNA; molecular therapeutics; targeted therapies.