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.
Highlights
Type 1 neurofibromatosis (NF1 #MIM 162200) is the most common neurocutaneous disorder, affecting approximately one out of 3000 people worldwide [1]
Optic pathway glioma (OPG) is the most common central nervous system neoplasia detected in pediatric patients affected by NF1, with an estimated prevalence ranging from 15% to 20% [6,9,10,11,12,13,14,15,16,17]
Asymptomatic OPGs are prevalent in children with NF1 who are younger than 10 years and frequency decreases with increasing age until adulthood [17]; the prevalence of symptomatic their frequency decreases with increasing age until adulthood [17]; the prevalence of tumors (3% to 5% of patients with NF1) remains stable [16,17]
Summary
Type 1 neurofibromatosis (NF1 #MIM 162200) is the most common neurocutaneous disorder, affecting approximately one out of 3000 people worldwide [1] This autosomal dominant tumor predisposition syndrome is caused by inactivating mutations in NF1, a tumor suppressor gene which encodes the RAS inhibitor neurofibromin involved in the regulation of cell growth and survival [2]. This condition is characterized by wide allelic heterogeneity, with more than 3000 different variants reported so far, owing to the high mutational rate of the NF1 gene and the absence of hotspots [3]. In this review we will summarize and discuss the clinical features of OPG, the current diagnostic and therapeutic protocols and the most recent advances on its pathophysiology obtained from preclinical models
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