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Neurofibromatosis type 2 and related disorders

Halliday, Dorothya,b; Parry, Allysonb,c; Evans, D. Garethd

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.

aGenomic Medicine

bOxford NF2 Unit

cDepartment of Neurosciences, Oxford University Hospitals NHS Foundation Trust, Oxford

dGenomic Medicine, Division of Evolution and Genomic Sciences, MAHSC, University of Manchester, St Mary's Hospital, Manchester, UK

Correspondence to Dorothy Halliday, Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Trust, Windmill Rd, Oxford, UK. Tel: +44 01865 226029; e-mail:

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