摘要
Ⅰ型神经纤维瘤病(NF1)是一种由nf1基因突变引起的常染色体显性遗传疾病,nf1基因及其编码的蛋白产物神经纤维瘤蛋白在肿瘤抑制方面有着重要作用。部分NF1患者以丛状型神经纤维瘤为主要表现,而丛状型神经纤维瘤的外科治疗效果欠佳,同时传统放疗、化疗方案无效,为临床治疗带来极大的难度,是目前多组学及靶向治疗的研究热点。该文综述了NF1相关丛状型神经纤维瘤的临床特点、靶点探究现状和针对丛状型神经纤维瘤的药物临床试验进展。
Neurofibromatosis typeⅠ(NF1)is an autosomal dominant genetic disease triggered by mutations of nf1gene,nf1 gene and its encoded protein product neurofibromatoprotein play important roles in tumor supressive activity.Plexiform neurofibroma was the main manifestation among some patients For plexiform neurofibroma,surgical treatment did not have satisfactory effect.meanwhile,traditional radiotherapy and chemotherapy are ineffective.All of those above serve as challenges for clinical treatment and have been received much more attention from study of multimoics and targeting therapy In this Review,the clinical features of NF1-associated plexiform neurofibromasand,the progress regarding investigation of drug targets and clinical trials for the drug of plexiform neurofibroma will be presented.
作者
任捷艺
顾熠辉
李青峰
王智超
Ren Jieyi;Gu Yihui;Li Qingfeng;Wang Zhichao(Department of Plastic and Reconstructive Surgery,Shanghai Ninth People's Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200011,China)
出处
《中华整形外科杂志》
CAS
CSCD
北大核心
2020年第1期83-87,共5页
Chinese Journal of Plastic Surgery
基金
国家自然科学基金国际(地区)合作与交流项目(81620108019)
上海交通大学医学院附属第九人民医院青年医师协同创新团队计划(QC201803)。
