Matthias Papo1, Fleur Cohen-Aubart1, Ludovic Trefond1, Adeline Bauvois1, Zahir Amoura1, Jean-François Emile2, Julien Haroche3. 1. Assistance Publique-Hôpitaux de Paris, Service de Médecine Interne 2, Centre National de Références des Histiocytoses, Hôpital Pitié-Salpêtrière, Sorbonne Université, 47-83, Boulevard de l'Hôpital, 75651, Paris Cedex 13, France. 2. EA4340-BECCOH, Versailles University, & Département de Pathologie, Hôpital Ambroise Paré, AP-HP, 9 Avenue Charles de Gaulle, 92100, Boulogne, France. 3. Assistance Publique-Hôpitaux de Paris, Service de Médecine Interne 2, Centre National de Références des Histiocytoses, Hôpital Pitié-Salpêtrière, Sorbonne Université, 47-83, Boulevard de l'Hôpital, 75651, Paris Cedex 13, France. julien.haroche@aphp.fr.
Abstract
PURPOSE OF REVIEW: Provide an overview of recent progress in decoding the pathogenesis and treatment of systemic histiocytoses. RECENT FINDINGS: Advances in molecular techniques over the last few years, enabling the identification of several MAPK mutations in lesion histiocytes, have revolutionized our understanding of histiocytosis that led to a revised classification and new treatments. Since the 2010 discovery of the BRAFV600E mutation in 57% of Langerhans cell histiocytosis (LCH) lesions, several other kinase mutations have been found, mostly in the MAPK pathway, and also in other key signaling pathways, in LCH, Erdheim-Chester Disease (ECD) and, less frequently, Destombes-Rosai-Dorfman disease (RDD). Those revolutionary breakthroughs enhanced our understanding of the pathogenesis of histiocytosis and led to trials with targeted therapies that demonstrated notable efficacy.
PURPOSE OF REVIEW: Provide an overview of recent progress in decoding the pathogenesis and treatment of systemic histiocytoses. RECENT FINDINGS: Advances in molecular techniques over the last few years, enabling the identification of several MAPK mutations in lesion histiocytes, have revolutionized our understanding of histiocytosis that led to a revised classification and new treatments. Since the 2010 discovery of the BRAFV600E mutation in 57% of Langerhans cell histiocytosis (LCH) lesions, several other kinase mutations have been found, mostly in the MAPK pathway, and also in other key signaling pathways, in LCH, Erdheim-Chester Disease (ECD) and, less frequently, Destombes-Rosai-Dorfman disease (RDD). Those revolutionary breakthroughs enhanced our understanding of the pathogenesis of histiocytosis and led to trials with targeted therapies that demonstrated notable efficacy.
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