Sorbonne Université, Assistance Publique-Hôpitaux de Paris, Service de Médecine Interne 2, Centre National de Référence des Histiocytoses, Hôpital Pitié-Salpêtrière, 47-83, boulevard de l'Hôpital, 75651, Paris Cedex 13, France.
INSERM UMR1163 and CNRS URL 8254, Imagine Institute, Paris, France.
Curr Rheumatol Rep. 2019 Dec 5;21(12):66. doi: 10.1007/s11926-019-0865-2.
This report provides an overview of the current knowledge of molecular characterization, clinical description, and treatment of Erdheim-Chester disease (ECD), a multi-systemic adult histiocytosis of the L group.
The recent identification of several MAPK mutations in histiocytes of ECD lesions. Leading to targeted therapies. The discovery of the BRAF mutation in ECD lesions followed by several other kinase mutations in the MAPK pathway has revolutionized our understanding of the disease pathogenesis and led to trials with targeted therapies that demonstrated robust efficacy.
本报告概述了 Erdheim-Chester 病（ECD）的分子特征、临床描述和治疗的现有知识，ECD 是 L 组多系统的成人组织细胞增生症。
最近在 ECD 病变的组织细胞中发现了几种 MAPK 突变，从而导致了靶向治疗。在 ECD 病变中发现 BRAF 突变，随后在 MAPK 通路中发现了其他几种激酶突变，这彻底改变了我们对疾病发病机制的理解，并导致了靶向治疗的试验，显示出了强大的疗效。
