pexidartinib and Erdheim-Chester-Disease

Erdheim-Chester disease (ECD) is a histiocytic neoplasm that predominantly harbors mitogen-activated protein kinase (MAPK) pathway variants. MAPK inhibitors typically are effective treatments, but mutations outside the MAPK pathway, such as CSF1R variants, may cause refractory ECD. We describe a patient with a novel somatic mutation in CSF1R (CSF1R

Topics: Aminopyridines; Cell Line; Erdheim-Chester Disease; Female; Humans; Mutation; Pyrroles; Receptors, Granulocyte-Macrophage Colony-Stimulating Factor