Autosomal dominantly inherited syndrome that predisposes individuals to bilateral vestibular schwannomas as well as multiple other tumors of the nervous system
Terminology
In 2022, the nomenclature for ոеսrοfibrοmatоѕiѕ type 2 and ѕϲhԝаոոοmatοѕis was revised to recognize the complete spectrum of ѕϲhԝаոnοmа predisposition syndromes, which are defined in many cases by pathogenic variants in one of several genes on chromosome 22
NF2-related ѕϲhԝаոոοmаtоsis (NF2-SWN), formerly ոеսrοfibrοmatоѕiѕ type 2
SMARCB1-related ѕϲhԝаոոοmаtosiѕ (SMARCB1-SWN)
LZTR1-related ѕϲhԝаոոοmаtоѕiѕ (LZTR1-SWN)
Other schwannomatoses, including those related to loss of heterozygosity of chromosome 22q (22q-SWN)
Aetiology
AD mutation of Merlin
Cytoskeletal protein
Ch22
Clinical
Bilateral tumours – Acoustic Neuromas → Hearing loss
Multiple Meningiomas
Ependymomas of Spinal Cord
Pathology
Similar to NF-1
Diagnostic Criteria
Either one of:
Bilateral masses of CN VIII (Vestibulocochlear Nerve) seen with CT / MRI
A first-degree relative with NF-2
and either
(a) A unilateral mass of CN VIII
(b) 2 of the following:
Neurofibroma
Meningioma
Glioma
Schwannoma
Juvenile Posterior Subcapsular Opacity
Investigations
Genetic testing
Management
Vestibular schwannomas are generally managed surgically if treatment is indicated, although first-line medical therapy with bevacizumab plays a role in select cases