1Department of Oncology, Sidney Kimmel Comprehensive Cancer Center.
2The Russell H. Morgan Department of Radiology and Radiological Science, and.
J Natl Compr Canc Netw. 2020 Jun;18(6):650-655. doi: 10.6004/jnccn.2020.7549.
Erdheim-Chester disease (ECD) is an extremely rare and aggressive non-Langerhans histiocytic disorder. ECD typically presents with bone pain in middle-aged adults, although some patients present with multisystem disease involving the skeleton, central nervous system, cardiovascular system, lungs, and other disease sites. The etiology of ECD is currently unknown, but it is thought to be a reactive or neoplastic disorder. Recently, mutation of the BRAF gene has been found in >50% of ECD cases, and this gene has become a therapeutic target for patients with ECD. Vemurafenib, a BRAF inhibitor, has been approved by the FDA for treatment of ECD. This report presents an elderly male patient with an aggressive phenotype of ECD and highlights the utility of multimodality imaging in monitoring the clinical course and disease response to treatment with vemurafenib.
厄尔-道格拉斯病（ECD）是一种极为罕见且侵袭性的非朗格汉斯细胞组织细胞增生症。ECD 通常表现为中年患者的骨痛，尽管一些患者表现为涉及骨骼、中枢神经系统、心血管系统、肺部和其他疾病部位的多系统疾病。ECD 的病因目前尚不清楚，但它被认为是一种反应性或肿瘤性疾病。最近，超过 50%的 ECD 病例中发现了 BRAF 基因突变，该基因已成为 ECD 患者的治疗靶点。BRAF 抑制剂 vemurafenib 已被 FDA 批准用于治疗 ECD。本报告介绍了一名老年男性 ECD 侵袭性表型患者，并强调了多模态成像在监测临床病程和疾病对 vemurafenib 治疗反应中的作用。
