NeurologyTier 2Disease (DEADMAN)

Neurofibromatosis type 2

Description

Autosomal dominant tumour-predisposition syndrome from NF2 gene mutations (merlin/schwannomin, a tumour suppressor) - causes multiple schwannomas, meningiomas, and ependymomas, distinct from NF1
Hallmark: bilateral vestibular schwannomas (acoustic neuromas) - near-pathognomonic

~1:25,000-33,000 births; ~50% de novo mutations; full penetrance but variable severity, including mosaicism in some de novo cases

NF2 on chromosome 22 encodes merlin, a cytoskeletal tumour suppressor - biallelic loss in Schwann cells/meningeal cells drives tumour formation
Distinct from NF1 (NF1 gene, chromosome 17, neurofibromin) - a different gene and a different tumour spectrum, with minimal phenotypic overlap despite the similar names

Bilateral vestibular schwannomas are diagnostic alone; otherwise clinical criteria combine unilateral vestibular schwannoma + family history, or multiple meningiomas/other NF2-associated tumours + family history (Manchester criteria)
MRI brain/spine with contrast for screening and surveillance; genetic testing confirms and enables family cascade testing
Annual audiometry for early vestibular schwannoma detection in known/at-risk individuals

Active surveillance for small, slow-growing, asymptomatic tumours
Bevacizumab (anti-VEGF) - can shrink vestibular schwannomas and preserve hearing, an alternative to surgery in selected cases
Surgery/stereotactic radiosurgery for growing or symptomatic tumours - hearing preservation is a central management goal, balanced against the risk of facial nerve injury
Multidisciplinary surveillance (neurology, neurosurgery, ENT, ophthalmology) across the full tumour spectrum

Meningiomas (often multiple), spinal ependymomas, peripheral schwannomas, juvenile posterior subcapsular cataracts, retinal hamartomas

Progressive bilateral hearing loss is near-universal without intervention; tumour burden accumulates over decades
Life expectancy is reduced compared with the general population, primarily from CNS tumour burden and treatment complications, not a single dominant tumour

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