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Current Rheumatology Reports
Published in: Current Rheumatology Reports 12/2019

01-12-2019 | Langerhans Cell Histiocytosis | Orphan Diseases (B Manger, Section Editor)

Erdheim-Chester Disease: a Concise Review

Authors: Matthias Papo, Jean-François Emile, Thiago Trovati Maciel, Pierre Bay, Alistair Baber, Olivier Hermine, Zahir Amoura, Julien Haroche

Published in: Current Rheumatology Reports | Issue 12/2019

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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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Metadata
Title
Erdheim-Chester Disease: a Concise Review
Authors
Matthias Papo
Jean-François Emile
Thiago Trovati Maciel
Pierre Bay
Alistair Baber
Olivier Hermine
Zahir Amoura
Julien Haroche
Publication date
01-12-2019
Publisher
Springer US
Published in
Current Rheumatology Reports / Issue 12/2019
Print ISSN: 1523-3774
Electronic ISSN: 1534-6307
DOI
https://doi.org/10.1007/s11926-019-0865-2

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