Prevalence and natural history of schwannomas in Neurofibromatosis type 2 (NF2): the influence of pathogenic variants

Research output: Contribution to journalArticlepeer-review

  • External authors:
  • Daniel Moualed
  • Jonathan Wong
  • Owen Thomas
  • Rukhtam Saqib
  • Cameron Choi
  • Simon Lloyd
  • Scott A Rutherford
  • Emma Stapleton
  • Charlotte Hammerbeck-ward
  • Roger Laitt
  • Andrew Wallace
  • Mark Kellett
  • Andrew King
  • Simon Freeman

Abstract

Aims: To characterise the natural history of vestibular, trigeminal and lower cranial nerve schwannomas (VS, TS, LCNS) in patients with Neurofibromatosis type 2 (NF2). To understand how pathogenic variants (PVs) of the NF2 gene affect tumour burden and growth rate.

Method: Retrospective analysis of a UK NF2 centre database and imaging. VS, TS and LCNS location and size were measured in accordance with a standardised protocol. PVs were categorised in accordance with the UK NF2 Genetic Severity Score (GSS).

Results: 153 patients (age 5-82) had 458 schwannomas, of which 362 were previously untreated comprising: 204 VS, 93 TS, and 65 LCNS (IX, X, XI). 322 schwannomas had sequential imaging allowing growth rate analysis with a mean follow-up of 45 months.
VS were universally present, and bilateral in 146/153 cases. 65% of tumours grew >2mm during the study period at mean rate 2.0mm/year. Significant association was found between increasing GSS and growth rate. TS occurred in 66/153 patients (bilateral in 27/153); 31% of tumours showed growth (mean 1.8mm/yr). Significant increase in tumour prevalence was noted with increasing GSS. LCNS were found in 47/153 patients (bilateral in 19/153); 27% of tumours showed growth (mean 1.9mm/yr). The trend for increased prevalence with increasing GSS did not reach significance.

Conclusion: We found that VS growth rate was significantly influenced by GSS and they were much more likely to grow than TS and LCNS. TS prevalence also correlated with increasing GSS.

Bibliographical metadata

Original languageEnglish
Pages (from-to)458-464
Number of pages7
JournalEuropean Journal of Human Genetics
Volume30
Issue number4
Early online date24 Jan 2022
DOIs
Publication statusPublished - 1 Apr 2022