Abstract
The natural history of non-optic central nervous system (CNS) tumors in neurofibromatosis type 1 (NF1) is largely unknown. Here, we describe prevalence, clinical presentation, treatment, and outcome of 49 non-optic CNS tumors observed in 35 pediatric patients (0–18 years). Patient- and tumor-related data were recorded. Overall survival (OS) and progression-free survival (PFS) were evaluated. Eighteen patients (51%) harbored an optic pathway glioma (OPG) and eight (23%) had multiple non-optic CNS lesions. The majority of lesions (37/49) were managed with a wait-and-see strategy, with one regression and five reductions observed. Twenty-one lesions (42.9%) required surgical treatment. Five-year OS was 85.3%. Twenty-four patients progressed with a 5-year PFS of 41.4%. Patients with multiple low-grade gliomas progressed earlier and had a lower 5-year PFS than those with one lesion only (14.3% vs. 57.9%), irrespective of OPG co-presence. Non-optic CNS tumors are common in young patients with NF1. Neither age and symptoms at diagnosis nor tumor location influenced time to progression in our series. Patients with multiple lesions tended to have a lower age at onset and to progress earlier, but with a good OS.
Highlights
Neurofibromatosis type 1 (NF1) is a common autosomal-dominant condition with a worldwide prevalence of 1 in 3000 and an estimated incidence of 1 in 2500–3300 [1]
An MRI scan was obtained for 12 patients (34.2%) with symptoms of intracranial hypertension (4 cases); persistent headache (3 cases); neurological signs, including hemiparesis, right-side pyramidal signs, cerebellar signs, absence, and dizziness (4 cases); and endocrine disorder
MRI was performed as a follow-up of eight patients with optic pathway glioma (OPG) and one with moyamoya syndrome, and to screen 13 patients for OPG and one for intellectual disability (Table 1)
Summary
Neurofibromatosis type 1 (NF1) is a common autosomal-dominant condition with a worldwide prevalence of 1 in 3000 and an estimated incidence of 1 in 2500–3300 [1]. The haploinsufficiency of NF1 leads to increased cell survival and proliferation mediated by hyperactivation of the Ras/PI3K signaling axis and secondary increased mTOR activation [2]. Both adults and children with NF1 are prone to developing central nervous system (CNS) tumors. Up to 15% of NF1 patients develop a brain tumor within the first two decades of life [3]. The risk of new tumor development was recently estimated to be 0.19% per year of follow-up for each NF1 patient older than 10 years [4]
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