Optic pathway glioma in type 1 neurofibromatosis: Review of its pathogenesis, diagnostic assessment, and treatment recommendations

Matteo Cassina, Luisa Frizziero, Enrico Opocher, Raffaele Parrozzani, Ugo Sorrentino, Elisabetta Viscardi, Giacomo Miglionico, Edoardo Midena, Maurizio Clementi, Eva Trevisson

Research output: Contribution to journalReview articlepeer-review

Abstract

Type 1 neurofibromatosis (NF1) is a dominantly inherited condition predisposing to tumor development. Optic pathway glioma (OPG) is the most frequent central nervous system tumor in children with NF1, affecting approximately 15-20% of patients. The lack of well-established prognostic markers and the wide clinical variability with respect to tumor progression and visual outcome make the clinical management of these tumors challenging, with significant differences among distinct centers. We reviewed published articles on OPG diagnostic protocol, follow-up and treatment in NF1. Cohorts of NF1 children with OPG reported in the literature and patients prospectively collected in our center were analyzed with regard to clinical data, tumor anatomical site, diagnostic workflow, treatment and outcome. In addition, we discussed the recent findings on the pathophysiology of OPG development in NF1. This review provides a comprehensive overview about the clinical management of NF1-associated OPG, focusing on the most recent advances from preclinical studies with genetically engineered models and the ongoing clinical trials.

Original languageEnglish
Article number1790
JournalCancers
Volume11
Issue number11
DOIs
Publication statusPublished - Nov 2019

Keywords

  • Brain/orbit MRI
  • Clinical trials
  • NF1
  • Optic pathway glioma
  • Type 1 neurofibromatosis

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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