1 1Department of Pediatric Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, China National Clinical Research Center for Neurological Diseases, Center of Brain Tumor, Beijing Institute for Brain Disorders, Beijing Key Laboratory of Brain Tumor; and
2 2Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, People’s Republic of China
Erdheim-Chester disease (ECD) is a rare non–Langerhans cell form of histiocytosis that can affect the central nervous system. ECD predominantly affects adults, and only a few pediatric cases have been reported. The co-occurrence of ECD and Langerhans cell histiocytosis (LCH) is exceedingly rare. 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. 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. Recent studies regarding treatment with BRAF inhibitors for neurological involvement in mixed ECD and LCH are also reviewed.
DiamondELSubbiahVLockhartACBlayJYPuzanovIChauI: Vemurafenib for BRAF V600-mutant Erdheim-Chester Disease and Langerhans cell histiocytosis: analysis of data from the histology-independent, phase 2, open-label VE-BASKET study. JAMA Oncol4:384–3882018
HarocheJCharlotteFArnaudLvon DeimlingAHélias-RodzewiczZHervierB: High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses. Blood120:2700–27032012
LaurencikasEGavhedDStålemarkHvan’t HooftIPrayerDGroisN: Incidence and pattern of radiological central nervous system Langerhans cell histiocytosis in children: a population based study. Pediatr Blood Cancer56:250–2572011