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Natural history of optic pathway gliomas in a cohort of unselected patients affected by Neurofibromatosis 1

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Abstract

Optic pathway glioma (OPG) represents the most common central nervous system tumor in children with Neurofibromatosis type-1 (NF1). Although overall survival is usually good, no clear prognostic factors have been identified so far. We assessed the natural history of OPG in a cohort of unselected patients affected by NF1. We retrospectively evaluated 414 consecutive patients affected by NF1 and referred to our NF1 clinic before age 6. Average follow-up was 11.9 years: 52 out of 414 patients had OPG with a total cumulative incidence of 15.4% at age 15 (Kaplan–Meier estimate) and a statistically significant difference according to sex. Brain and orbit MRI was performed in 44.7% of patients: 34.6% for screening purposes and 65.4% because of the presence of neurological, ocular or other symptoms. OPG was diagnosed in 12.5% of cases in the first group, whereas in 36.4% in the latter group (p = 0.001). Clinical management was conservative in most patients, while 8 of them underwent therapy mainly because of visual deterioration. OPG was diagnosed earlier in treated patients, but the difference was not statistically significant. Conversely, all patients who underwent screening MRI had normal visual outcome. In conclusion, OPG location does not correlate with need for treatment; female patients were more frequently affected by OPG but not more frequently treated. OPG diagnosis by screening MRI does not affect the natural history of the tumor.

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Acknowledgements

Funding for this work was provided by the Italian NF patients’ association Linfa Onlus (www.associazionelinfa.it). The ophthalmological part of this research was financially supported by Ministry of Health and Fondazione Roma. We appreciate the kind cooperation of the patients and their families.

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Authors and Affiliations

  1. Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Via Giustiniani 3, 35128, Padova, Italy

    Eva Trevisson, Matteo Cassina, Virginia Vicenzi & Maurizio Clementi

  2. Hematology-Oncology Clinic, Department of Woman and Child Health, University of Padova, Via Giustiniani 3, 35128, Padova, Italy

    Enrico Opocher & Elisabetta Viscardi

  3. Neurological Unit, Rovigo General Hospital, Viale Tre Martiri, 140, 45100, Rovigo, Italy

    Marta Lucchetta

  4. Department of Neurosciences, University of Padova, Via Giustiniani 2, 35128, Padova, Italy

    Raffaele Parrozzani & Edoardo Midena

  5. G.B. Bietti Eye Foundation, IRCCS, Ocular Oncology and Toxicology Research Unit, Via Livenza, 3, 00198, Roma, Italy

    Giacomo Miglionico & Edoardo Midena

  6. Neuroradiology Unit, Hospital of Padova, Via Giustiniani 2, 35128, Padova, Italy

    Rodica Mardari

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  1. Eva Trevisson
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Correspondence to Eva Trevisson.

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Trevisson, E., Cassina, M., Opocher, E. et al. Natural history of optic pathway gliomas in a cohort of unselected patients affected by Neurofibromatosis 1. J Neurooncol 134, 279–287 (2017). https://doi.org/10.1007/s11060-017-2517-6

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