神经纤维瘤病Ⅱ型发病机理的研究现况  

Current Research on Pathogenesis of Neurofibromatosis Type 2

作　　者：左文静 纵亮[1] 杨仕明[1] ZUO Wenjing;ZONG Liang;YANG Shiming(Department of Otorhinolaryngology Head and neck surgery,General Hospital of PLA;Nankai University)

机构地区：[1]中国人民解放军总医院耳鼻咽喉头颈外科,北京100853 [2]南开大学,天津300071

出　　处：《中华耳科学杂志》2018年第4期488-492,共5页Chinese Journal of Otology

基　　金：首都卫生发展科研专项重点攻关项目(2016-1-5014);国家自然基金面上项目(81670940);军事医学创新工程和青年培育项目(16QNP133)。

摘　　要：神经纤维瘤病是由于神经嵴细胞分化异常所导致的多系统、多器官损害性疾病,是人类神经系统常见的遗传病之一。按其表型及致病基因不同可分为I型(NF-1)和Ⅱ型(NF-2)两类。NF-2主要累及中枢神经系统(听神经、脑膜、脊髓等),最明显的特征是双侧前庭神经鞘膜瘤(又称"听神经瘤"),同时可合并多发性脑膜瘤、室管膜瘤、其它脑神经及脊神经的神经鞘瘤。神经纤维瘤病Ⅱ型(neurofibromatosis type Ⅱ,NF-2)是由于NF2基因突变导致的常染色体显性遗传病,临床以双侧听神经瘤(vestibular schwannomas, VSs)为特征性表现,常伴多发的神经系统肿瘤及眼和皮肤等相关病变。由于NF-2的病变部位特殊,对听觉功能影响严重,致残致死率较高,治疗手段有限,因此近年来受到了临床医生和研究人员的广泛关注。Neurofibromatosis is one of the most common genetic diseases of the human nervous system,and caused by abnormal differentiation of neural crest cells.Based on its phenotype and pathogenetic genes,it can be classified as type I(NF-1)or type II(NF-2).Nf-2 mainly involves the central nervous system(auditory nerve,meninges and spinal cord).The appearance of bilateral vestibular nerve sheath tumor(also known as"acoustic neuroma")is the most obvious feature,which may be associated with multiple meningioma,ependymoma,and other cranial and spinal nerve neurilemmoma.NF-2 is an autosomal dominant hereditary disease caused by mutation of the NF2 gene.The characteristic bilateral acoustic neuroma(vestibular schwannomas,VSs)is often accompanied by multiple nervous system tumors,eye and skin diseases and so on.Because of its unique lesion locations,serious impact on auditory function,high morbidity/mortality rate and limited treatments,NF-2 has attracted wide attention by clinicians and researchers in recent years.

关 键 词：神经纤维瘤病II型 MERLIN蛋白 动物模型 生物信息学 

分 类 号：R764[医药卫生—耳鼻咽喉科]