Ⅰ型神经纤维瘤病治疗新时代——司美替尼应用现状  

A New Era: Treatment of Neurofibromatosis Type 1——Progress in the Application of Selumetinib

作　　者：郭雅欣 王鹤晓 齐瑞群[1] 陈洪铎[1] 徐学刚[1] 高兴华[1] GUO Yaxin;WANG Hexiao;QI Ruiqun;CHEN Hongduo;XU Xuegang;GAO Xinghua(Department of Dermatology,the First Hospital of China Medical University,Key Laboratory of Immunodermatology,Ministry of Education and NHC,National Joint Engineering Research Center for Theranostics of Immunological Skin Diseases,Shenyang 110001,China)

机构地区：[1]中国医科大学附属第一医院皮肤科,教育部和国家卫生健康委员会免疫皮肤病学重点实验室,免疫性皮肤病诊疗国家地方联合工程研究中心,辽宁沈阳110001

出　　处：《中国皮肤性病学杂志》2022年第12期1344-1349,共6页The Chinese Journal of Dermatovenereology

基　　金：中国国家重点研究开发计划(2016YFC0901504);111项目(D18011);教育部重点实验室开放课题(2020GDND06)

摘　　要：Ⅰ型神经纤维瘤病是一种罕见的可累及多系统的常染色体显性遗传病,发病率约1/3 000。典型的临床表现包括牛奶咖啡斑、神经纤维瘤、皱褶部雀斑、Lisch结节及骨骼发育不良。本病是由抑癌基因NF1变异所致,引起神经纤维蛋白表达下调或失活,激活RAS/RAF/MEK/ERK信号通路,导致细胞过度增殖。通过近年开展的临床前及临床研究发现,MEK抑制剂司美替尼在治疗Ⅰ型神经纤维瘤病,尤其是针对有症状的无法手术切除的丛状神经纤维瘤患儿,疗效显著且比较安全。Neurofibromatosis type 1(NF1) is a rare autosomal dominant multisystem disorder affecting approximately 1 in 3 000 individuals. The typical clincial manifestations of NF1 including café-au-lait macules, neurofibromas, freckles in the folds, Lisch nodules and skeletal dysplasias. It is widely accepted that gene mutations in NF1 is the pathogenesis. Alterations in NF1 leads to downregulation or inactivation of neurofibromin expression, and activation of the RAS/RAF/MEK/ERK signaling pathway, which ultimately results in excessive cell proliferation. Based on recent pre-clinical and clinical studies, MEK inhibitor of Selumetinib has shown promising clinical efficacy and is relatively safe in treating NF1, particularly for children with symptomatic inoperable plexiform neurofibromas.

关 键 词：Ⅰ型神经纤维瘤病 丛状神经纤维瘤 MEK抑制剂 司美替尼 

分 类 号：R596.1[医药卫生—内科学]