Matthias Papo1,2, Jean-François Emile3, Thiago Trovati Maciel2, Pierre Bay1, Alistair Baber1, Olivier Hermine2, Zahir Amoura1, Julien Haroche4. 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. 2. INSERM UMR1163 and CNRS URL 8254, Imagine Institute, Paris, France. 3. EA4340-BECCOH, Versailles University & Département de Pathologie, Hôpital Ambroise Paré, AP-HP, 9 avenue Charles de Gaulle, 92100, Boulogne, France. 4. 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. julien.haroche@aphp.fr.
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. 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.
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. 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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