Diagnosis and management of NF1-PN

Diagnosis

NF1-PNs grow rapidly in early childhood and require timely evaluation, diagnosis and intervention for effective management.1
An international consensus recommendation details the diagnostic criteria to establish a diagnosis of NF1. The diagnostic criteria are met in an individual if two or more* of the following are present:2, 3

  • Six or more café-au-lait macules
  • Freckling in the axillary or inguinal region
  • Two or more neurofibromas of any type or one plexiform neurofibroma
  • Optic pathway glioma
  • Two or more Iris Lisch nodules
  • A distinctive osseous lesion
  • A heterozygous pathogenic NF1 variant

*One or more if the individual has a parent diagnosed with NF1.

Management of NF1-PN

The European guideline ERN GENTURIS for NF1 management recommends a multidisciplinary approach (MDT), involving specialists with expertise in treating NF1-PN.3, 4
Treatment options for patients with NF1-PN include active monitoring, symptomatic therapy, surgery and targeted drug therapy.4, 5
NF1-PN management guidelines suggest medical therapy as an active treatment option for symptomatic PN and inoperable symptomatic PN.4, 5

Monitoring of NF1-PN Patients

Clinical assessment by observation, palpitation and neurological examination should be carried out regularly and by clinicians with expertise in NF1-PN.3, 4
Imaging by whole body magnetic resonance imaging (MRI) should be carried out at least at transition from adolescence to adulthood.3, 4
Clinical assessment should be started at diagnosis or birth and repeated at every clinical visit, at least:4

  • Annually in children up to 10 years
  • Once every two years in children older than 10 years
  • Once every three years in adults
  • During transition from adolescence to adulthood more frequent clinical assessment may be warranted
References
Gross AM et al. Association of plexiform neurofibroma volume changes and development of clinical morbidities in neurofibromatosis 1. Neuro Oncol 2018;20(12):1643–1651.
Legius E et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: An international consensus recommendation. Genet Med. 2021;23(8):1506–1513.
Farschtschi S, Vaassen P, Kluwe L, Hartung T, Salamon J, Rosenbaum T. Age adapted diagnostic evaluation and treatment of patients with neurofibromatosis type 1 in Germany. Dtsch Arztebl Int 2025; 112(3)
Carton C et al. ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1. eClinicalMedicine. 2023;56:101818.
Fisher MJ, Blakeley JO, Weiss BD, et al. Management of neurofibromatosis type 1-associated plexiform neurofibromas. Neuro Oncol. 2022;24(11):1827–1844.