Progress in the research and theranostics of neurofibromatosis type Ⅰ
10.3781/j.issn.1000-7431.2023.2306-0272
- VernacularTitle:Ⅰ型神经纤维瘤病研究和诊治进展
- Author:
Zhiqing YUAN
1
;
Tian YANG
;
Tao CHEN
;
Rong HUA
;
Yingbin LIU
Author Information
1. 上海交通大学医学院附属仁济医院胆胰外科,上海市肿瘤研究所,肿瘤系统医学全国重点实验室,上海 200127
- Keywords:
Neurofibromatosis type 1;
Neurofibroma;
Autosomal dominant inheritance;
Selumetinib
- From:
Tumor
2023;43(9):756-762
- CountryChina
- Language:Chinese
-
Abstract:
Neurofibromatosis type 1 is a progressive autosomal dominant inherited disease caused by a mutation in neurofibromin 1(NF1)gene located on chromosome 1 7q1 1.2.NF1 can cause systemic peripheral neuropathy,but the clinical manifestations are varied due to the different onset times and lesion sites in different patients.The treatment of NF1 involves multiple disciplines due to different lesion sites.Clinical monitoring and symptomatic treatment are the main methods for NF1 management,while radical treatment is difficult.New drugs targeted at the pathogenic gene-related signaling pathways are expected to improve the therapeutic effect for NF1.This review summarizes the progress in the basic research and clinical diagnosis and treatment of NF1.
