Identifying challenges in Neurofibromatosis: a modified Delphi procedure

Research output: Contribution to journalArticlepeer-review

  • External authors:
  • Britt A E Dhaenens
  • Rosalie E Ferner
  • Annette Bakker
  • Marco Nievo
  • Pierre Wolkenstein
  • Cornelia Potratz
  • Scott R Plotkin
  • Guenter Heimann
  • Eric Legius
  • Rianne Oostenbrink


Neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) are rare conditions with pronounced variability of clinical expression. We aimed to reach consen-sus on the most important manifestations meriting the development of drug trials. The five-staged modified Delphi procedure consisted of two questionnaires and a consensus meeting for 40 NF experts, a survey for 63 patient representatives, and a final workshop. In the question-naires, manifestations were scored on multiple items on a 4-point Likert scale. The highest aver-age scores for NF experts deciding the “need for new treatment” were for malignant peripheral nerve sheath tumour (MPNST) (4,0) and high grade glioma (HGG) (3,9) for NF1; meningioma (3,9) for NF2 and pain (3,9) for SWN. The patient representatives assigned high scores to all manifestations, with plexiform neurofibroma being highest in NF1 (4,0), vestibular schwannoma in NF2 (4,0), and pain in SWN (3,9).

Twelve experts participated in the consensus meeting and prioritised manifestations. MPNST was ranked the highest for NF1, followed by benign peripheral nerve sheath tumours. Tumour mani-festations received highest ranking in NF2, and pain was the most prominent problem for SWN. Patient representative ratings for NF1 were similar to the experts’ opinions, except that they ranked HGG as the most important manifestation. For NF2 and SWN, the patient representatives agreed with the experts. We conclude that NF experts and patient representatives consent to pri-oritise development of drug trials for MPNST, benign peripheral nerve sheath tumours, cutaneous manifestations and HGG for NF1; tumours for NF2; and pain for SWN.

Bibliographical metadata

Original languageEnglish
JournalEuropean Journal of Human Genetics
Early online date26 Apr 2021
Publication statusPublished - 26 Apr 2021