Ge Ling-Ling, Xing Ming-Yan, Zhang Hai-Bing, Li Qing-Feng, Wang Zhi-Chao
Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, 639 Zhizaoju Road, 200011, Shanghai, P.R. China.
CAS Key Laboratory of Nutrition, Metabolism and Food Safety, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.
Cell Oncol (Dordr). 2022 Dec;45(6):1137-1153. doi: 10.1007/s13402-022-00723-3. Epub 2022 Nov 3.
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder that affects nearly 1 in 3000 infants. Neurofibromin inactivation and NF1 gene mutations are involved in various aspects of neuronal function regulation, including neuronal development induction, electrophysiological activity elevation, growth factor expression, and neurotransmitter release. NF1 patients often exhibit a predisposition to tumor development, especially in the nervous system, resulting in the frequent occurrence of peripheral nerve sheath tumors and gliomas. Recent evidence suggests that nerves play a role in the development of multiple tumor types, prompting researchers to investigate the nerve as a vital component in and regulator of the initiation and progression of NF1-related nervous system tumors.
In this review, we summarize existing evidence about the specific effects of NF1 mutation on neurons and emerging research on the role of nerves in neurological tumor development, promising a new set of selective and targeted therapies for NF1-related tumors.
1型神经纤维瘤病（NF1）是一种常染色体显性遗传病，每3000名婴儿中约有1人受其影响。神经纤维瘤蛋白失活和NF1基因突变参与神经元功能调节的各个方面，包括神经元发育诱导、电生理活动增强、生长因子表达和神经递质释放。NF1患者往往有肿瘤发生倾向，尤其是在神经系统，导致周围神经鞘瘤和胶质瘤频繁发生。最近的证据表明，神经在多种肿瘤类型的发生中起作用，促使研究人员将神经作为NF1相关神经系统肿瘤发生和进展的重要组成部分及调节因子进行研究。
在本综述中，我们总结了关于NF1突变对神经元的具体影响以及神经在神经肿瘤发生中作用的最新研究证据，有望为NF1相关肿瘤提供一套新的选择性和靶向性治疗方法。
