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Erdheim-Chester Disease: a Concise Review
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Journal Article
Erdheim-Chester Disease: a Concise Review
2019
Overview
Purpose of ReviewThis 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 FindingsThe recent identification of several MAPK mutations in histiocytes of ECD lesions. Leading to targeted therapies.SummaryThe 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.
Publisher
Springer Nature B.V
Subject
