Frequent IDH1 mutations in supratentorial primitive neuroectodermal tumors (sPNET) of adults but not children.

摘要

Supratentorial primitive neuroectodermal tumors (sPNET) are rare aggressive embryonal tumors of the cerebral hemispheres, which predominantly occur in childhood but also arise in adults. Despite multi-modal therapy, less than half of affected patients will survive 5 years post-diagnosis, and late effects associated with current treatment protocols are a significant complication in survivors.1 Advances in our understanding of the molecular basis of sPNET development will be critical to improve outcome. The biological mechanisms underlying sPNET pathogenesis, however, remain poorly understood and afford few opportunities for the application of novel or targeted therapeutic approaches to achieve this objective.