Optic Pathway Glioma in Type 1 Neurofibromatosis: Review of Its Pathogenesis, Diagnostic Assessment, and Treatment Recommendations

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.

Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966

“…These criteria usually appear in the following predictable order: café-au-lait macules, axillary freckling, Lisch nodules, and neurofibromas. The characteristic osseous lesions usually appear within the first year of life, and the mean age at diagnosis of optic gliomas ranges from 3 to 6 years [18][19][20].…”

Non-Oncological Neuroradiological Manifestations in NF1 and Their Clinical Implications

“…NF1 patients are known to be prone to CNS tumor development, and the natural history of optic pathway glioma as well as non-optic tumors has been largely described in the literature [ 8 , 9 , 10 , 11 ]. Besides tumor-related manifestations, NF1 is also characterized by a wide spectrum of CNS alterations, with variable impacts on functioning and life quality, which can be observed to varying degrees in up to 70% patients [ 12 , 13 ].…”

Reklinghauzeno Liga Oftalmologijoje. Klinikiniai Atvejai

“…Tai multisisteminė liga, kurios gydymui prireikia skirtingų specialybių gydytojų. Ligos paplitimas yra 1:3000 [2], nepriklausomai nuo lyties ar rasės [3]. Apie pusę visų atvejų liga paveldima autosominiu dominantiniu keliu, esant mutacijai NF1 geno srityje.…”

“…atvejų bei optinio nervo glioma aptinkama apie 5-25 proc. atvejų [2,5]. Lišo mazgeliai tai melanocitinės rainelės hamartomos, stebimos rainelės paviršiuje.…”

“…atvejų pasireiškia tumoro plitimas į hipotalamą bei trečiąjį skilvelį [8,9]. Esant tumorui optinio nervo srityje, dažniausi simptomai − lėtas, skausmingas vienpusis regos prastėjimas, optinio disko patinimas ar atrofija, gali atsirasti proptozė, nistagmas ar žvairumas [2,8].…”