CpG island hypermethylation of the neurofibromatosis type 2 (NF2) gene is rare in sporadic vestibular schwannomas.

摘要: P. J. Kullar, D. M. Pearson, S. Malley, V. Collins and K. Ichimura (2010) Neuropathology Applied Neurobiology36, 505–514 CpG island hypermethylation of the neurofibromatosis type 2 (NF2) gene is rare in sporadic vestibular schwannomas Aims: Loss both wild-type copies found 2-associated schwannomas (VS). Previous studies have identified a subset VS with no loss or mutation NF2. We hypothesized that methylation NF2 resulting silencing may play role such tumours. Methods: Forty were analysed by array comparative genomic hybridization using 1 Mb whole genome chromosome 22 tile path arrays. The genes sequenced examined pyrosequencing. Results: Monosomy was only recurrent change found. Twelve tumours had mutations. Eight complete NF2, four one mutated allele, 11 allele 17 showed abnormalities. Methylation analysis low-level at limited number CpGs. No high-level Conclusions: This study shows significant proportion (>40%) unmethylated genes. indicates other mechanisms, yet to be identified, are operative oncogenesis these VSs.