期刊
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
卷 36, 期 6, 页码 505-514出版社
WILEY
DOI: 10.1111/j.1365-2990.2010.01090.x
关键词
array comparative genomic hybridization; CpG island; DNA methylation; NF2; pyrosequencing
资金
- Samantha Dickson Brain Tumour Trust
- Jacqueline Seroussi Memorial Foundation for Cancer Research
- Cambridge Fund for the Prevention of Disease (CAMPOD)
Aims: Loss of both wild-type copies of the neurofibromatosis type 2 (NF2) gene is found in both sporadic and neurofibromatosis type 2-associated vestibular schwannomas (VS). Previous studies have identified a subset of VS with no loss or mutation of NF2. We hypothesized that methylation of NF2 resulting in gene silencing may play a role in such tumours. Methods: Forty sporadic VS were analysed by array comparative genomic hybridization using 1 Mb whole genome and chromosome 22 tile path arrays. The NF2 genes were sequenced and methylation of NF2 examined by pyrosequencing. Results: Monosomy 22 was the only recurrent change found. Twelve tumours had NF2 mutations. Eight tumours had complete loss of wild-type NF2, four had one mutated and one wild-type allele, 11 had only one wild-type allele and 17 showed no abnormalities. Methylation analysis showed low-level methylation in four tumours at a limited number of CpGs. No high-level methylation was found. Conclusions: This study shows that a significant proportion of sporadic VS (> 40%) have unmethylated wild-type NF2 genes. This indicates that other mechanisms, yet to be identified, are operative in the oncogenesis of these VSs.
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