2型神经纤维瘤病发病的遗传学及分子机制综述  

Genetic and molecular mechanisms of neurofibromatosis type 2

作　　者：黄永胜 黎凯 刘思景 陈逸恒 符志雄 郭伟韬 Huang Yongsheng;Li Kai;Liu Sijing;Chen Yiheng;Fu Zhixiong;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15期2222-2226,共5页International Medicine and Health Guidance News

基　　金：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：2型神经纤维瘤病(neurofibromatosistype 2,NF2)是一种常染色体的遗传性多发瘤性综合征,是由位于22号常染色体上的NF2抑癌基因突变引起的。大约有50%的NF2患者是遗传了父母携带的NF2突变基因,其余患者是在胚胎时期发生了偶发突变而引起的,大约有1/3的NF2偶发突变患者是体细胞突变的镶嵌体,而体细胞突变可能是发生在胚胎发育早期。NF2的发病率为1/21万,在不同年龄段的外显率存在差异,20岁时外显率大约为50%,但是到60岁时外显率接近100%。NF2患者常以神经系统肿瘤(神经鞘瘤、脑膜瘤、室管膜瘤、星形细胞瘤和神经纤维瘤)、周围神经病变、眼科病变(白内障和视网膜错构瘤)和皮肤病变(皮肤肿瘤)等为主要临床表现。现就近年来有关NF2发病的遗传学及相关分子机制研究进展综述如下。Neurofibromatosis type 2(NF2)is an autosomal inherited polyomatous syndrome caused by a mutation in NF2 tumor suppressor genes located on autosomal 22.About 50%NF2 patients are inherited from the NF2 mutations carried by their parents,and the remaining ones are caused by accidental mutations occurring in embryos.About 1/3 of NF2 incidental mutations are mosaics of somatic mutations,which may occur in early embryonic development.The incidence of NF2 is 1/210000,and the penetrance varies between different age groups,with the penetrance of about 50%at the age of 20,but nearly 100%at the age of 60.Patients with NF2 often present with nervous system tumors(schwannoma,meningioma,ependymoma,astrocytoma,and neurofibroma),peripheral neuropathy,ophthalmological lesions(cataract and retinal hamartoma),and cutaneous lesions(skin tumors).Here is a review of recent studies on the genetics and related molecular mechanisms of NF2 pathogenesis.

关 键 词：2型神经纤维瘤病 分子遗传学 发病机制 

分 类 号：R739.4[医药卫生—肿瘤]