title: Erdheim-Chester disease.
abstract: 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.
authors.affiliation: 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. julien.haroche@psl.aphp.fr
authors.forename: Julien
authors.initials: J
authors.lastname: Haroche
authors.forename: Laurent
authors.initials: L
authors.lastname: Arnaud
authors.forename: Fleur
authors.initials: F
authors.lastname: Cohen-Aubart
authors.forename: Baptiste
authors.initials: B
authors.lastname: Hervier
authors.forename: Frédéric
authors.initials: F
authors.lastname: Charlotte
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Emile
authors.forename: Zahir
authors.initials: Z
authors.lastname: Amoura
mesh_terms: D015415:Biomarkers / Q000378:metabolism; D002493:Central Nervous System Diseases / Q000209:etiology / Q000473:pathology; D003937:Diagnosis, Differential; D004791:Enzyme Inhibitors / Q000627:therapeutic use; D031249:Erdheim-Chester Disease / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy; D006644:Histiocytes / Q000378:metabolism / Q000473:pathology; D006646:Histiocytosis, Langerhans-Cell / Q000175:diagnosis; D006801:Humans; D007155:Immunologic Factors / Q000627:therapeutic use*; D007211:Indoles / Q000627:therapeutic use; D016898:Interferon-alpha / Q000627:therapeutic use*; D009154:Mutation; D011379:Prognosis; D048493:Proto-Oncogene Proteins B-raf / Q000037:antagonists & inhibitors / Q000235:genetics; D013449:Sulfonamides / Q000627:therapeutic use; D000077484:Vemurafenib
chemical_list: D015415:Biomarkers; D004791:Enzyme Inhibitors; D007155:Immunologic Factors; D007211:Indoles; D016898:Interferon-alpha; D013449:Sulfonamides; D000077484:Vemurafenib; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf