Case Report: Evolution of a Severe Vascular Refractory Form of ECD Requiring Liver Transplantation Correlated With the Change in the Monocyte Subset Analysis

Erdheim-Chester disease is a rare histiocytosis characterized by iconic features associated with compatible histology. Most patients have somatic mutations in the MAP-kinase pathway gene, and the mutations occur in CD14(+) monocytes. Differentiation of the myeloid lineage plays a central role in the pathogenesis of histiocytosis. Monocytes are myeloid-derived white blood cells, divided into three subsets, but only the CD14(++)CD16(-) ``classical monocyte'' can differentiate into dendritic cells and tissue macrophages. Since most mutations occur in CD14(+) cells and since ECD patients have a particular monocytic phenotype resembling CMML, we studied the correlation between disease activity and monocytic subset distribution during the course of a severe vascular form of ECD requiring liver transplantation. During early follow-up, increased CD14(++)CD16(-) ``classical monocyte'' associated with decreased CD14(low)CD16(++) ``non-classical monocyte'' correlated with disease activity. Further studies are needed to confirm the use of monocyte as a marker of disease activity in patients with ECD.