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前庭神经鞘瘤的分子遗传学

The molecular genetics of vestibular schwannoma.

作者信息

Moffat D A, Irving R M

机构信息

Department of Otoneurological and Skull Base Surgery, Addenbrooke's Hospital, Cambridge.

出版信息

J Laryngol Otol. 1995 May;109(5):381-4. doi: 10.1017/s0022215100130245.

Abstract

Vestibular schwannoma occurs both as a sporadic tumour and in the dominantly inherited familial cancer syndrome neurofibromatosis type 2 (NF2). The gene for NF2 has recently been isolated on chromosome 22, and the demonstration of inactivating germline mutations in NF2 patients and NF2 associated tumours suggests that it acts as a tumour suppressor. The results of recent research in Cambridge suggest that somatic mutations of the NF2 tumour suppressor gene are a critical step in the pathogenesis of both familial and indeed non-familial unilateral sporadic vestibular schwannoma and that the mechanism of tumourigenesis complies with the 'two-hit' model. This paper represents a brief review of the current status of molecular biology in relation to vestibular schwannoma in particular and is discussed in relation to the molecular pathology of skull base tumours as a whole.

摘要

前庭神经鞘瘤既可以散发性肿瘤的形式出现,也可出现在显性遗传的家族性癌症综合征2型神经纤维瘤病(NF2)中。NF2基因最近已在22号染色体上分离出来,NF2患者及与NF2相关肿瘤中失活性种系突变的证实表明它起着肿瘤抑制基因的作用。剑桥大学近期的研究结果表明,NF2肿瘤抑制基因的体细胞突变是家族性以及非家族性单侧散发性前庭神经鞘瘤发病机制中的关键步骤,并且肿瘤发生机制符合“两次打击”模型。本文简要综述了尤其是与前庭神经鞘瘤相关的分子生物学现状,并结合整个颅底肿瘤的分子病理学进行了讨论。

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