Retrospective multicentric study on non-optic CNS tumors in children and adolescents with neurofibromatosis type 1

Claudia Santoro*, Stefania Picariello, Federica Palladino, Pietro Spennato, Daniela Melis, Jonathan Roth, Mario Cirillo, Lucia Quaglietta, Alessandra D’amico, Giuseppina Gaudino, Maria Chiara Meucci, Ursula Ferrara, Shlomi Constantini, Silverio Perrotta, Giuseppe Cinalli

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


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 progressionfree 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. Twentyone 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.

Original languageEnglish
Article number1426
Issue number6
StatePublished - Jun 2020
Externally publishedYes


  • Brain tumors
  • CNS
  • Children
  • Frame-shift
  • Low-grade glioma
  • NF1
  • Neurofibromatosis type 1


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