Neurofibromatosis type 2 and related disorders

Curr Opin Oncol. 2019 Nov;31(6):562-567. doi: 10.1097/CCO.0000000000000579.


Purpose of review: Neurofibromatosis type 2 (NF2) is a schwannoma predisposition syndrome, alongside schwannomatosis related to germline LZTR1 and SMARCB1 pathogenic variants. This review highlights their overlapping phenotypes, new insight into NF2 phenotype and treatment outcomes.

Recent findings: Mosaic NF2 is more prevalent than previously thought. Use of next-generation sequencing and tumour testing is needed to differentiate mosaic NF2 and schwannomatosis. Developing NF2 phenotypic insights include vasculopathy with brainstem infarction and vessel stenosis; focal cortical dysplasia in severe phenotypes; swallowing/speech difficulties and continued debate into malignancy in NF2. Proposed are: use of visual evoked potentials to monitor optic nerve sheath meningioma; potential routine magnetic resonance angiogram in adolescence and a genetic score to cohort patients with similar pathogenic_variants, for natural history/treatment outcome studies. Cohort studies found survival analysis to hearing loss and unilateral visual loss in severe mutation groups was 32 and 38 years; active management gave better outcomes than surveillance in spinal ependymoma; gamma knife, bevacizumab and hearing preservation surgery maintained or improved short-term hearing in selected patients, and gamma knife had a good long-term tumour control in mild patients with small tumours.

Summary: Further long-term outcome studies are needed comparing similar severity patients to allow informed decision making.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Humans
  • Neurofibromatosis 2 / genetics
  • Neurofibromatosis 2 / pathology
  • Neurofibromatosis 2 / physiopathology*