Ⅱ型神经纤维瘤病的基础临床研究进展  

Advances in basic and clinical research of neurofibromatosis type 2

作　　者：苏剑煌 朱妍 霍丽蓉[1] SU Jianhuang;ZHU Yan;HUO Lirong(Central Laboratory,Fu Xing Hospital,Capital Medical University,Beijing 100038,China)

机构地区：[1]首都医科大学附属复兴医院中心实验室,北京100038

出　　处：《中国医药科学》2022年第15期28-32,共5页China Medicine And Pharmacy

基　　金：北京市西城区优秀人才项目(201915)。

摘　　要：Ⅱ型神经纤维瘤病(NF2)是一种常染色体显性遗传病,典型症状包括耳鸣、耳聋、眩晕、面瘫。NF2发病机制十分复杂,目前尚未阐明。研究表明NF2的发生与NF2基因突变、表观遗传修饰和细胞通路异常调控等因素有关。现有的NF2检查手段如核磁共振成像、听力检测、基因检测等都存在一定缺陷。在治疗方面,手术、放疗和药物治疗的效果欠佳,有待进一步提升。同时,随着技术的成熟,基因治疗有望成为新的治疗手段。本文对NF2的临床表现、发病机制、检查和治疗手段相关进展进行了回顾总结,以期能够为NF2的机制和治疗研究提供新的思路。Neurofibromatosis type 2(NF2)is an autosomal dominant genetic disorder,characterized by several symptoms:tinnitus,deafness,vertigo and facial paralysis.The pathogenesis of NF2 is very complicated,which has not been well elucidated yet.Studies have shown that the development of NF2 involves gene mutations,epigenetic modifications and dysregulated signaling pathways.Current NF2-associated examinations(eg,MRI,hearing tests and genetic tests)all have certain defects.In terms of treatments,the effects of surgery,radiotherapy and pharmacotherapy are sub-optimal and remain to be further improved.Meanwhile,as the technology mature,gene therapy is expected to be a novel therapeutic tool for NF2.This article reviews the present knowledge on NF2 clinical manifestations,possible pathogenesis and management,with a view to providing new ideas for future mechanistic and therapeutic studies.

关 键 词：Ⅱ型神经纤维瘤病 临床表现 发病机制 临床检查 临床治疗 

分 类 号：R739.4[医药卫生—肿瘤]