Departments of Pediatric Hematology and Oncology.
Pediatric Radiology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
J Pediatr Hematol Oncol. 2021 Apr 1;43(3):e375-e379. doi: 10.1097/MPH.0000000000001770.
The objective of this study was to report the case of a girl diagnosed as suffering from multisystem, BRAF V600E-positive refractory Langerhans cell histiocytosis (LCH) and coexistent Erdheim-Chester disease (ECD) with perirenal, intracranial involvement and the dramatic response to clofarabine treatment.
Histiocytoses are rare diseases with a broad clinical spectrum. Recent evidence supports a molecular and clinical overlap between LCH and ECD, and mixed LCH/ECD is now a separate entity. However, only a few pediatric cases of mixed disease have been reported in the literature.
In a child with refractory, multisystem histiocytosis and atypical presentations, mixed LCH/ECD should be suspected in the differential diagnosis.
本研究旨在报告一例患有多系统、BRAF V600E 阳性难治性朗格汉斯细胞组织细胞增生症（LCH）和同时并发肾周、颅内受累的 Erdheim-Chester 病（ECD）的女孩病例，并探讨其对克拉屈滨治疗的显著反应。
组织细胞增生症是一种罕见疾病，具有广泛的临床谱。最近的证据支持 LCH 和 ECD 之间存在分子和临床重叠，混合性 LCH/ECD 现在是一个独立的实体。然而，文献中仅报道了少数儿童混合疾病的病例。
对于患有难治性、多系统组织细胞增生症和不典型表现的儿童，应在鉴别诊断中怀疑混合性 LCH/ECD。
