Neurofibromatosis type 2.

Lancet 2009 Jun 22;373(9679):1974-86. Epub 2009 May 22.

Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-1414, USA.

Neurofibromatosis type 2 is an autosomal-dominant multiple neoplasia syndrome that results from mutations in the NF2 tumour suppressor gene located on chromosome 22q. It has a frequency of one in 25,000 livebirths and nearly 100% penetrance by 60 years of age. Half of patients inherit a germline mutation from an affected parent and the remainder acquire a de novo mutation for neurofibromatosis type 2. Patients develop nervous system tumours (schwannomas, meningiomas, ependymomas, astrocytomas, and neurofibromas), peripheral neuropathy, ophthalmological lesions (cataracts, epiretinal membranes, and retinal hamartomas), and cutaneous lesions (skin tumours). Optimum treatment is multidisciplinary because of the complexities associated with management of the multiple, progressive, and protean lesions associated with the disorder. We review the molecular pathogenesis, genetics, clinical findings, and management strategies for neurofibromatosis type 2.

Download full-text PDF

Source
http://dx.doi.org/10.1016/S0140-6736(09)60259-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4748851PMC
June 2009

Publication Analysis

Top Keywords

neurofibromatosis type
16
peripheral neuropathy
4
neuropathy ophthalmological
4
neurofibromas peripheral
4
astrocytomas neurofibromas
4
ependymomas astrocytomas
4
ophthalmological lesions
4
lesions cataracts
4
retinal hamartomas
4
membranes retinal
4
epiretinal membranes
4
cataracts epiretinal
4
meningiomas ependymomas
4
tumours schwannomas
4
novo mutation
4
mutation neurofibromatosis
4
acquire novo
4
remainder acquire
4
parent remainder
4
type patients
4

Similar Publications