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Erdheim-Chester Disease: a Concise Review

  • Orphan Diseases (B Manger, Section Editor)
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Abstract

Purpose of Review

This report provides an overview of the current knowledge of molecular characterization, clinical description, and treatment of Erdheim-Chester disease (ECD), a multi-systemic adult histiocytosis of the L group.

Recent Findings

The recent identification of several MAPK mutations in histiocytes of ECD lesions. Leading to targeted therapies.

Summary

The discovery of the BRAFV600E mutation in ECD lesions followed by several other kinase mutations in the MAPK pathway has revolutionized our understanding of the disease pathogenesis and led to trials with targeted therapies that demonstrated robust efficacy.

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Authors and Affiliations

  1. Sorbonne Université, Assistance Publique–Hôpitaux de Paris, Service de Médecine Interne 2, Centre National de Référence des Histiocytoses, Hôpital Pitié–Salpêtrière, 47–83, boulevard de l’Hôpital, 75651, Paris Cedex 13, France

    Matthias Papo, Pierre Bay, Alistair Baber, Zahir Amoura & Julien Haroche

  2. INSERM UMR1163 and CNRS URL 8254, Imagine Institute, Paris, France

    Matthias Papo, Thiago Trovati Maciel & Olivier Hermine

  3. EA4340-BECCOH, Versailles University & Département de Pathologie, Hôpital Ambroise Paré, AP-HP, 9 avenue Charles de Gaulle, 92100, Boulogne, France

    Jean-François Emile

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  1. Matthias Papo
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  2. Jean-François Emile
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Correspondence to Julien Haroche.

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Papo, M., Emile, JF., Maciel, T.T. et al. Erdheim-Chester Disease: a Concise Review. Curr Rheumatol Rep 21, 66 (2019). https://doi.org/10.1007/s11926-019-0865-2

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