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.
Keywords: Erdheim-Chester Disease; Histiocytic Neoplasm; Histiocytosis; Myeloid Neoplasm; Targeted Therapy.