%0 Journal Article
%T Neurofibromatosis type 2 (NF2): A clinical and molecular review
%A D Gareth R Evans
%J Orphanet Journal of Rare Diseases
%D 2009
%I BioMed Central
%R 10.1186/1750-1172-4-16
%X Neurofibromatosis type 2(NF2), Bilateral acoustic neurofibromatosis, Central neurofibromatosis. OMIM #101000Neurofibromatosis type 2 (NF2) is a dominantly inherited tumour prone disorder characterised by the development of multiple schwannomas and meninigiomas [1]. The disease can be diagnosed when a pathogenic mutation in the NF2 gene is identified or when the criteria in table 1[1] are fulfilled.When using established clinical diagnostic criteria [1] and based on mutations in the NF2 gene [2,3] assessment of the frequency of NF2 in the population can be made. This is complicated by the high rate of mosaicism [4]. There have only been two epidemiological studies of NF2 one in North West England [5,6], [Evans DG et al. Birth incidence and prevalence of tumour prone syndromes: estimates from a UK genetic family register service. Am J Med Genet 2009. unpublished] and one in Finland [7]. The incidence of NF2 was initially reported as 1:33¨C40,000 individuals in a 4 million population in England [5]. Disease prevalence was somewhat lower at 1: 200,000. However, a recent update suggests that the incidence may be as high as 1:25,000 [6]. Disease prevalence has now risen to around 1 in 60,000 due to earlier diagnosis and better survival due to improved treatment [Evans DG et al. Birth incidence and prevalence of tumour prone syndromes: estimates from a UK genetic family register service. Am J Med Genet 2009. unpublished]. A lower incidence of 1 in 87,410 was reported in a 1.7 million population in Finland [7].NF2, in contrast to neurofibromatosis type 1 (NF1) is characterised by the development of schwannomas, meningiomas and ependymomas, with the great majority of patients developing bilateral schwannoma involvement of the superior vestibular branch of the eighth cranial nerve [1]. Although the disease is still classified as "neurofibromatosis", neurofibromas are relatively infrequent. The first clear description of NF2 was in 1822 by Wishart [8]. NF1 was fully delineated
%U http://www.ojrd.com/content/4/1/16