title: Erdheim-Chester disease, moving away from the orphan diseases: A case report.
abstract: 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 otherBRAFmutation-positive diseases. Vemurafenib, a BRAF kinase inhibitor, has been shown to be effective inBRAFV600E 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.
authors.affiliation: Albert Einstein Medical Center, Department of Internal Medicine, Philadelphia, PA, USA.
authors.forename: Jessica M
authors.initials: JM
authors.lastname: Stempel
authors.affiliation: Albert Einstein Medical Center, Department of Internal Medicine, Philadelphia, PA, USA.
authors.forename: Jean G
authors.initials: JG
authors.lastname: Bustamante Alvarez
authors.affiliation: Albert Einstein Medical Center, Department of Internal Medicine, Philadelphia, PA, USA.
authors.forename: Andres Mora
authors.initials: AM
authors.lastname: Carpio
authors.affiliation: Albert Einstein Medical Center, Department of Internal Medicine, Philadelphia, PA, USA; Albert Einstein Medical Center, Department of Hematology and Oncology, Philadelphia, PA, USA.
authors.forename: Varun
authors.initials: V
authors.lastname: Mittal
authors.affiliation: Albert Einstein Medical Center, Department of Internal Medicine, Philadelphia, PA, USA; Albert Einstein Medical Center, Department of Hematology and Oncology, Philadelphia, PA, USA.
authors.forename: Claudia
authors.initials: C
authors.lastname: Dourado
keywords: BRAF V600E mutation; Erdheim-Chester disease; Vemurafenib