Erdheim-Chester disease, moving away from the orphan diseases: A case report.
Erdheim-Chester disease, moving away from the orphan diseases: A case report.
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DOI：
10.1016/j.rmcr.2016.11.013
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发表时间：
2017
影响因子：
1.1
通讯作者：
Dourado, Claudia
中科院分区：
文献类型：
--
作者：
Stempel, Jessica M;Bustamante Alvarez, Jean G;Carpio, Andres Mora;Mittal, Varun;Dourado, Claudia
据报道，Erdheim-Chester病约有750例，是一种极其罕见的组织细胞疾病。受影响的部位通常包括长骨、大血管和中枢神经系统。然而，皮肤和肺的受累也可以发生。通过对CD68、CD163和XIIIA因子阳性的泡沫组织细胞进行免疫过氧化物酶染色，确定诊断。最近发表的文献描述了Erdheim-Chester病与BRAF V600E突变之间的关联。这一发现促使了对BRAF抑制剂治疗可能性的研究，BRAF抑制剂是治疗其他BRAF突变阳性疾病的成功药物。Vemurafenib是一种BRAF激酶抑制剂，已被证明对BRAF V600E突变阳性的恶性肿瘤有效，如NSCLC和黑色素瘤，以及几个Erdheim-Chester病的病例报告。我们报告一例在我们机构诊断的Erdheim-Chester病，用维莫拉非尼治疗。
With approximately 750 cases reported, Erdheim-Chester disease is an exceedingly rare histiocyte cell disorder. Affected sites typically include long bones, large vessels and central nervous system. However, cutaneous and pulmonary involvement can also occur. The diagnosis is ascertained by identification of foamy histiocytes positive for CD68, CD163, and factor XIIIa on immunoperoxidase staining. Recently published literature have described an association between Erdheim-Chester disease and BRAF V600E mutation. This finding prompted the investigation of therapeutic possibilities with BRAF inhibitors, successful agents against other BRAF mutation-positive diseases. Vemurafenib, a BRAF kinase inhibitor, has been shown to be effective in BRAF V600E mutation-positive malignancies, such as NSCLC and melanoma, as well as in several case reports of Erdheim-Chester disease. We report a case of Erdheim-Chester disease diagnosed at our institution, treated with vemurafenib.