神经纤维瘤病2型的诊断和治疗研究进展  

Diagnosis and treatment of neurofibromatosis type 2

作　　者：黎凯 刘思景 黄永胜 张锦祥 郭伟韬 Li Kai;Liu Sijing;Huang Yongsheng;Zhang Jinxiang;Guo Weitao(Guangdong Medical University,Zhanjiang 524000,China;The Second Hospital Affiliated to Guangdong Medical University,Zhanjiang 524000,China)

机构地区：[1]广东医科大学,湛江524000 [2]广东医科大学附属第二医院,湛江524000

出　　处：《国际医药卫生导报》2021年第21期3300-3304,共5页International Medicine and Health Guidance News

基　　金：2021年度广东省医学科学技术研究基金项目(B2021183);2020年度广东医科大学附属第二医院“冲补强”科研培育项目(2020P06);2020年度广东医科大学附属第二医院“冲补强”科研培育项目(2020P05)。

摘　　要：神经纤维瘤病2型(neurofbromatosis type 2,NF2)是一种以NF2肿瘤抑制基因突变引起的常染色体显性遗传病,具有特殊的神经系统病变。NF2最常见的临床表现是与双侧前庭神经鞘瘤的发展有关,然而,患者也容易合并其他多部位神经系统肿瘤,包括脑膜瘤、非前庭神经鞘瘤、胶质瘤等。一些患者还可能出现其他特征性表现,如眼部病变等。NF2有较高的发病率和严重的临床表现,相关病变的处理方法主要包括手术切除病损和对症治疗,近年来随着对其分子生物学更深入地了解,也提出了许多假定干预治疗的分子靶点。但目前还没有系统疗法来彻底解决该疾病。在这里,笔者回顾了NF2的相关临床表现、诊断以及目前治疗研究,并进行综述。Neurofibromatosis type 2(NF2)is an autosomal dominant genetic disorder caused by mutations in NF2 tumor suppressor genes,with specific neurological lesions.The most common clinical manifestations of NF2 are associated with the development of bilateral vestibular schwannomas;however,these patients are also prone to other multi-site neurological tumors,including meningiomas,non-vestibular schwannomas,and gliomas.Some patients may also have other characteristics,such as eye lesions.NF2 has a high incidence and severe clinical manifestations,and the management methods of related lesions mainly include surgical resection of the lesions and symptomatic treatment.In recent years,with the deeper understanding of its molecular biology,many molecular targets for hypothetical intervention have been proposed,but there is no systematic therapy to completely cure NF2.In this article,we review its clinical manifestations,diagnosis,and current treatment studies.

关 键 词：神经纤维瘤病2型 临床诊断 治疗方式 

分 类 号：R739.4[医药卫生—肿瘤]