Neurofibromatosis type 2 (NF2)

Central neurofibromatosis , Bilateral acoustic neurofibromatosis , Bilateral acoustic neurinoma , Bilateral acoustic schwannomas

autosomal dominant with almost complete penetrance; frequency is 3\/10^{5 newborns; neomutation represent 50% of cases; variable expressivity from mild disease through life (Gardner type) to severe condition at young age (Wishart type: with more than 3 tumours)}

101000

D009464;D016518

637 Neurofibromatosis type 2

C0027832;C0027859

NF2 is an hamartoneoplastic syndrome; hamartomas are localized tissue proliferations with faulty differenciation and mixture of component tissues; they are heritable malformations that have a potential towards neoplasia

NF2 cases represent about 5 % of schwannomas and meningiomas (i.e. risk increased by 2000), appearing at the age of 20, while they are found in the general population at the age of 50 and over

these tumours are usually benign, but their location within the central nervous system gives them a grave prognosis; patients with the Wishart severe form usually do not survive past 50 yrs

normal

chromosome 22 loss is very frequent both in sporadic and in NF2 schwannomas and meningiomas

17 exons (1-15, 17 constitutive, 16 alternatively spliced)

wide

membrane-cytoskeleton anchor; tumour suppressor

band 4.1 family , ezrin, radixin, moesin

germ-line mutations in NF2 patients lead to protein truncation; splice-site or missense mutations are also found; phenotype-genotype correlations are observed (i.e. that severe phenotype are found in cases with protein truncations rather than those with amino acid substitution)

mutation and allele loss events in tumours in neurofibromatosis type 2 and in sporadic schwannomas and meningiomas are in accordance with the two-hit model for neoplasia

120232

http:\/\/www.geneclinics.org\/profiles\/nf2 Neurofibromatosis Type 2 - GeneClinics