Ⅱ型神经纤维瘤病相关多组学及治疗研究进展
Research advances in multi-omics and treatment in neurofibromatosis type 2
林知 1杜乐辉 2焦顺昌1
作者信息
- 1. 解放军总医院第一医学中心肿瘤内科,北京 100853
- 2. 解放军总医院第一医学中心放射治疗科,北京 100853
- 折叠
摘要
Ⅱ型神经纤维瘤病是一种NF2基因突变或缺失导致的常染色显性遗传疾病,主要表现为中枢神经系统及周围神经系统肿瘤的生长.常见的Ⅱ型神经纤维瘤病有双侧前庭神经鞘瘤、脑膜瘤、室管膜瘤、椎管内神经鞘瘤、周围神经鞘瘤等.Ⅱ型神经纤维瘤病常累及多个系统,严重影响患者的生活质量与生存时间.本文基于目前Ⅱ型神经纤维瘤病的相关研究进展,从流行病学、临床特征、发病机制、遗传学、NF2基因表型与疾病特征的相关性、临床治疗等方面展开综述,以期增进对该疾病发病机制及治疗策略的了解.
Abstract
Neurofibromatosis type 2 is a common autosomal dominant hereditary disorder caused by mutations or deletions in the NF2 gene.The disease is characterized by the growth of tumors of the central nervous system and the peripheral nervous system.Common neurofibromatosis type 2 includes bilateral vestibular schwannomas,meningiomas,ependymomas,intravertebral schwannomas,and peripheral schwannomas.Tumors associated with NF2 commonly affect multiple neural systems,significantly impacting patients'quality of life and survival.This article aims to provide an overview of NF2 based on current research progress in epidemiology,clinical characteristics,pathogenesis,genetics,correlations between NF2 gene phenotypes and disease features,and clinical management,so as to enhance our understanding of the disease's mechanisms and therapeutic strategies.
关键词
Ⅱ型神经纤维瘤病/临床特征/表观遗传/基因突变/临床治疗Key words
neurofibromatosis type 2/clinical characteristics/epigenetics/gene mutations/clinical treatment引用本文复制引用
基金项目
国家重点研发计划(2022YFC240715)
出版年
2024
国家科技期刊平台
NSTL
万方数据