C2 neurofibromas in neurofibromatosis type 1: genetic and imaging characteristics

Mueez Waqar, Susan Huson, D Gareth Evans, John Ealing, Konstantina Karabatsou, K. Joshi George, Calvin Soh

Research output: Contribution to journalArticlepeer-review

Abstract

Object. C2 nerve root neurofibromas have been reported frequently in patients with neurofibromatosis type 1 (NF1), though their genetic and imaging characteristics are unexplored. The aim of this study was to characterise genetic and spinal imaging findings in a large cohort of NF1 patients with C2 neurofibromas. Methods. Review of national NF1 referrals 2009-2016. Inclusion criteria: at least one C2 root neurofibroma; MRI cervical spine/whole spine available for analysis. Blinded imaging review by a neuroradiologist with interest in NF1. Results. 54 patients with 106 C2 neurofibromas were included. The median age was 32.5 years (range 15-61 years) and there was a slight male excess (M:F, 33:21). Splice-site (30%) and missense variants (20%) were frequent. Spinal neurofibromas were distributed in all spine regions (65%) or the cervical spine alone (22%). Most (93%) C2 neurofibromas were visible on MRI head scans. Intradural invasion and cord compression in the cervical spine included the C2 level in 95% and 80% of patients, respectively. Compared to all other cervical spine neurofibromas, C2 neurofibromas had higher rates of intraspinal extension (75% vs. 32%; OR=6.20, 95% CI 3.85-9.97; p<0.001), intradural invasion (53% vs. 26%; OR=3.20, 95% CI 2.08-4.92; p<0.001) and cord compression (25% vs. 13%; OR=2.26, 95% CI 1.35-3.79; p=0.002). However, C2 neurofibromas had lower rates of extraforaminal growth beyond the transverse process (12% vs. 62%; OR=0.09, 95% CI 0.05-0.16; p<0.001). Conclusions. C2 neurofibromas are associated with an aggressive intraspinal phenotype, limited growth outside the spinal canal and uncommon genetic profile. These observations require future study.
Original languageEnglish
JournalJournal of neurosurgery. Spine
Volume30
Early online date19 Oct 2018
DOIs
Publication statusPublished - Jan 2019

Keywords

  • Neurofibromatosis
  • neurofibromatosis type 1
  • Von Recklinghausen’s disease
  • spinal neurofibromas
  • spinal neurofibromatosis

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