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Abstract BACKGROUND Neurofibromatosis type 1 (NF-1) is a multisystem disease inherited in an autosomal dominant fashion. About 15% of the pediatric cases have associated brain tumors, among which the optic pathway gliomas (OPG) remain the most common. Due to their location, OPG can cause visual impairment, and endocrinal dysfunction, hence requiring therapeutic interventions, more commonly in sporadic non-NF-1 cases. METHODS NF-1 children with associated OPG followed at a single tertiary pediatric oncology center since its establishment from 2018 to 2023 were retrospectively evaluated. RESULTS Forty patients were identified either as firstly diagnosed NF-1 cases in our center or referred to us for follow up. Twenty-three of them who had associated OPG (mean age at diagnosis 83.7 months) were included in our study. The commonest clinical presentation was the bilateral initial visual affection occurring in 13 patients. Six had hormonal imbalance and four presented with seizures. Biopsy was taken only in 30%, with histopathology being mainly pilocytic astrocytoma. In terms of treatment, 10 cases received only one line of chemotherapy, six patients were kept on follow up, and the rest received more than one line of therapy. Overall survival (OS) was 100% throughout the study period, and progression-free survival was 64.1% at 1.5 years, and 46.8% at 5 years. Visual assessment at the end of treatment was stable in 71%, better in 22%, and worse in 7% of cases. Same pattern was observed in MRI assessment post therapy showing 57% stable disease, 39% regression, and 4% progression. CONCLUSIONS Survival of children with OPG is different in every center of the world as decisions regarding their management being challenging. Therefore, NF-1 multidisciplinary clinics are important to be established, with a high emphasis on early detection and referral of patients, standardization of symptoms grading and indications to start treatment.
Omran et al. (Tue,) studied this question.