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Dramatic efficacy of dabrafenib in Erdheim-Chester disease (ECD): a pediatric patient with multiple large intracranial ECD lesions hidden by refractory Langerhans cell histiocytosis
First author：Hao Xiaolei,Feng Ruie
Corresponding author：Tian Yongji
essential_information
- Person in charge：Hao Xiaolei,Feng Ruie
- Data Sources： OTHERS
- Number of papers：OTHERS20190848
- Published time：2018-09-28
2018-09-28
Published articles
Journal：Journal of Neurosurgery-Pediatrics
Publication type: Case Report
IF(IF): 2.375
PMID: 30265230 Link To Pubmed Full text Download
Background And Purpose
Method
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.
Conclusion
Recent studies regarding treatment with BRAF inhibitors for neurological involvement in mixed ECD and LCH are also reviewed.
Main results
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.