国家神经系统疾病临床医学研究中心数据管理与共享系统

Data Management And Sharing System of China National Clinical Research Center for Neurological Diseases

《国家中心数据管理与共享系统操作说明书 —— 研究者部分》

Dramatic efficacy of dabrafenib in Erdheim-Chester disease (ECD): a pediatric patient with multiple large intracranial ECD lesions hidden by refractory Langerhans cell histiocytosis

第一作者：Hao Xiaolei,Feng Ruie

通讯作者：Tian Yongji

ECD = Erdheim-Chester disease; Erdheim-Chester dis

基本信息

2018-09-28

已发表文章

发表杂志：Journal of Neurosurgery-Pediatrics

发表类型: Case Report

影响因子(IF): 2.375

PMID: 30265230 Pubmed原文链接 全文下载

主要研究背景及目的

方法

An 11-year-old boy, who was diagnosed with LCH 7 years previously, presented with multiple giant intracranial lesions. At the time of his initial diagnosis, only one intracranial lesion was observed, and it began to enlarge. Currently, up to 7 intracranial lesions can be observed in this patient. However, the diagnosis of ECD was not confirmed until this most recent open resection. The BRAF V600E mutation was detected in both LCH and ECD lesions. Dabrafenib therapy exhibited dramatic efficacy in this pediatric patient.

结论

Recent studies regarding treatment with BRAF inhibitors for neurological involvement in mixed ECD and LCH are also reviewed.

主要结果

This case represents the first successful application of dabrafenib in a pediatric patient with intracranial ECD lesions as well as mixed ECD and LCH. In this article, the authors describe the intricate diagnosis and treatment processes in this patient.