期刊
ORL-JOURNAL FOR OTO-RHINO-LARYNGOLOGY HEAD AND NECK SURGERY
卷 74, 期 1, 页码 33-37出版社
KARGER
DOI: 10.1159/000334968
关键词
Acoustic neuroma; Neurofibromatosis; Methylation-specific polymerase chain reaction
资金
- foundation Tumor Research Head and Neck, Wiesbaden, Germany
Background: Vestibular schwannomas (VS) are benign tumors of the nervous system that are usually sporadic but also occur in the inherited disorder neurofibromatosis type 2 (NF2). In VS, losses of chromosomal material and mutations of the NF2 gene have been established to be causative. For a subset of VS without detectable gene alterations, promoter inactivation by hypermethylation has been suggested. However, published data are very limited and contradictory. Methods: We analyzed NF2 gene promoter methylation in 35 sporadic VS by methylation-specific PCR. Results: Twenty-three of the tumors were informative, showing no promoter methylation. In the remaining 12 tumors, promoter methylation could neither be verified nor excluded. Conclusions: Our study suggests that NF2 gene inactivation by promoter hypermethylation is a rare or very uncommon mechanism of NF2 gene inactivation in sporadic VS. Other mechanisms destabilizing the NF2 gene product, yet to be identified, might play a role in the genesis of VS apart from the loss or mutation of the NF2 gene. Copyright (C) 2012 S. Karger AG, Basel
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