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.
Copyright © 2013 Elsevier Inc. All rights reserved.
MeSH terms
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Biomarkers / metabolism
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Central Nervous System Diseases / etiology
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Central Nervous System Diseases / pathology
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Diagnosis, Differential
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Enzyme Inhibitors / therapeutic use
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Erdheim-Chester Disease* / complications
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Erdheim-Chester Disease* / diagnosis
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Erdheim-Chester Disease* / drug therapy
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Histiocytes / metabolism
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Histiocytes / pathology
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Histiocytosis, Langerhans-Cell / diagnosis
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Humans
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Immunologic Factors / therapeutic use*
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Indoles / therapeutic use
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Interferon-alpha / therapeutic use*
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Mutation
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Prognosis
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Proto-Oncogene Proteins B-raf / antagonists & inhibitors
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Proto-Oncogene Proteins B-raf / genetics
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Sulfonamides / therapeutic use
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Vemurafenib
Substances
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Biomarkers
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Enzyme Inhibitors
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Immunologic Factors
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Indoles
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Interferon-alpha
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Sulfonamides
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Vemurafenib
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BRAF protein, human
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Proto-Oncogene Proteins B-raf