NF1 Gene Mutation Mediates Neuronal Signaling De-Regulation Triggering Pediatric Optic Glioma Development: Another Small Step towards a Cure of NF1 Disorder?

Pediatric optic pathway gliomas (OPGs) account for 20% of brain tumors [1]. These tumors are characterized by a low-grade growth and in some cases can be associated with a tumor predisposition syndrome. In particular, 15% of patients with neurofibromatosis type 1 (NF1) develop OPGs [2]. Sporadic and NF1-associated OPGs show different outcomes and are characterized by different radiological features [3], nevertheless both forms show activation of the MAPK (mitogen-activated protein kinase) and mTOR pathways.