Department of Internal Medicine, French Reference Center for Rare Autoimmune and Systemic Diseases, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, 47-83 boulevard de l'Hôpital, 75651 Paris Cedex 13, France.
Rheum Dis Clin North Am. 2013 May;39(2):299-311. doi: 10.1016/j.rdc.2013.02.011. Epub 2013 Mar 14.
Erdheim-Chester disease (ECD) is a rare form of non-Langerhans' cell histiocytosis. Diagnosis of ECD is based on the identification in tissue biopsy of histiocytes, which are typically foamy and immunostain for CD68+ CD1a-. Central nervous system involvement is a major prognostic factor in ECD. Interferon alpha may be the best first-line therapy and significantly improves survival of ECD. The BRAFV600E mutation is found in more than 50% of cases. Vemurafenib has been used for a small number of patients harbouring this mutation; inhibition of BRAF activation by vemurafenib was highly beneficial in these cases of severe multisystemic and refractory ECD.
厄尔-当姆-切斯特病（ECD）是一种罕见的非朗格汉斯细胞组织细胞增生症。ECD 的诊断基于在组织活检中识别组织细胞，这些细胞通常是泡沫状的，免疫染色为 CD68+ CD1a-。中枢神经系统受累是 ECD 的一个主要预后因素。干扰素-α可能是最好的一线治疗方法，可显著改善 ECD 的生存率。超过 50%的病例中发现 BRAFV600E 突变。少数携带这种突变的患者使用了维莫非尼；维莫非尼对 BRAF 激活的抑制在这些严重的多系统和难治性 ECD 病例中非常有益。
