儿童神经纤维瘤病1型颅内肿瘤性病变的治疗进展  

Advances in the treatment of intracranial neoplastic lesions in children with neurofibromatosis 1

作　　者：刘美伶 周亚兵[2] 王晓强[1] LIU Meiling;ZHOU Yabing;WANG Xiaoqiang(Department of Pediatric Neurosurgery,Xinhua Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200092,China;Department of Traditional Chinese Medicine,Xinhua Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200092,China)

机构地区：[1]上海交通大学医学院附属新华医院儿神经外科,上海200092 [2]上海交通大学医学院附属新华医院中医科,上海200092

出　　处：《上海交通大学学报（医学版）》2024年第3期399-406,共8页Journal of Shanghai Jiao tong University:Medical Science

基　　金：上海市“科技创新行动计划”医学创新研究专项(20Y21900500)。

摘　　要：神经纤维瘤病1型(neurofibromatosis 1,NF1)好发于儿童,是神经系统最常见的常染色体显性遗传病之一,是基因缺陷使神经嵴细胞发育异常导致的多系统损害。NF1的外显率几乎是100%,主要临床特征为皮肤牛奶咖啡斑和周围神经多发神经纤维瘤。NF1在颅内能引起肿瘤性病变,后者按照病理学依据可分为低级别肿瘤、高级别肿瘤和类似肿瘤病变。合并NF1的颅内肿瘤多为低级别肿瘤,视路胶质瘤最为多见,其次是脑干胶质瘤,其余部位和类型的肿瘤也有所发生;高级别肿瘤并不常见。而类似肿瘤病变即不明明亮物体虽不是肿瘤,但却是NF1儿童最常见的具有部分肿瘤性质的颅内异常病变。这些肿瘤性病变可通过观察、手术、化学治疗、放射治疗、靶向治疗等方式处理,不同病变的最佳处理方式不同,其预后也有所不同。目前针对儿童NF1颅内肿瘤性病变的治疗方式还有所争议。该文就此种病变的特点和治疗进展进行阐述,旨在提高大众对NF1肿瘤性病变的认知水平,提供针对性的诊疗方案,推进NF1患者完善神经外科治疗。Neurofibromatosis 1(NF1)is one of the most common autosomal dominant genetic diseases of the nervous system,which occurs predominantly in children.It is a multi-system damage caused by genetic defects that cause abnormal development of neural crest cells.The penetrance of NF1 is almost 100%,and the main clinical features are cafe-au-lait spots on the skin and multiple neurofibromas in peripheral nerves.NF1 can lead to intracranial neoplastic lesions,which can be divided into low grade tumors,high grade tumors and tumor-like lesions according to pathology.Most intracranial tumors with NF1 are low grade tumors,and optic pathway gliomas are the most universal,followed by brainstem gliomas,but other types of low grade tumors can also occur on other sites.High grade tumors are uncommon.Although tumor-like lesions/unidentified bright objects are not tumors,they are the most widespread intracranial abnormalities with partial tumor nature in NF1 children.These neoplastic lesions can be treated by observation,surgery,chemotherapy,radiotherapy,targeted therapy,etc.The best treatment for different lesions is different,and their prognosis is also distinct.At present,the treatment of intracranial neoplastic lesions of NF1 in children is still controversial.This article reviews the characteristics and treatment progress of this disease,aiming to improve the public's awareness of NF1 neoplastic lesions,provide professional plans of diagnosis and treatment,and finally promote the perfect neurosurgical therapy of NF1 patients.

关 键 词：神经纤维瘤病1型 颅内肿瘤性病变 儿童 治疗 

分 类 号：R739.41[医药卫生—肿瘤]