title: Erdheim-Chester disease: characteristics and management.
abstract: Erdheim-Chester disease is a rare CD68(+), CD1a(-) non-Langerhans cell histiocytosis with multiorgan involvement. The etiology of Erdheim-Chester disease is unclear; there are no known associated infectious or hereditary genetic abnormalities. However, somatic BRAF mutations have recently been identified in these patients. Historically, the literature regarding the management of Erdheim-Chester disease consisted of case reports and small case series with anecdotal therapeutic responses to agents including, but not limited to, cytotoxic chemotherapy, bone marrow transplantation, cladribine, corticosteroids, IFN-α, the BCR-ABL/KIT inhibitor imatinib mesylate, the IL-1 receptor antagonist anakinra, the TNF-inhibitor infliximab, and recently the BRAF inhibitor vemurafenib. We performed a search of the literature using PubMed with the terms Erdheim Chester disease, without date limitations, including case reports, case series, original articles, and previous review articles. In the absence of large-scale studies, experience-based management prevails. The present review details our approach to the management of patients with Erdheim-Chester disease.
authors.affiliation: Hematology-Oncology, Banner MD Anderson Cancer Center, Gilbert, AZ. Electronic address: javier.munoz@me.com.
authors.forename: Javier
authors.initials: J
authors.lastname: Munoz
authors.affiliation: Department of Investigational Cancer Therapeutics (Phase I Clinical Trials Program), University of Texas MD Anderson Cancer Center, Houston.
authors.forename: Filip
authors.initials: F
authors.lastname: Janku
authors.affiliation: Division of Dermatology, University of California, San Diego, San Diego.
authors.forename: Philip R
authors.initials: PR
authors.lastname: Cohen
authors.affiliation: Center for Personalized Cancer Therapy, and Division of Hematology and Oncology, University of California San Diego Moores Cancer Center, San Diego.
authors.forename: Razelle
authors.initials: R
authors.lastname: Kurzrock
mesh_terms: D000465:Algorithms; D050071:Bone Density Conservation Agents / Q000627:therapeutic use; D016026:Bone Marrow Transplantation; D003131:Combined Modality Therapy; D003661:Decision Support Techniques; D003937:Diagnosis, Differential; D031249:Erdheim-Chester Disease / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology / Q000628:therapy*; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D011379:Prognosis
chemical_list: D050071:Bone Density Conservation Agents; D007166:Immunosuppressive Agents