Article
Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era.
Blood - 28 May 2020
Goyal Gaurav, Heaney Mark L, Collin Matthew, Cohen-Aubart Fleur, Vaglio Augusto, Durham Benjamin H, Hershkovitz-Rokah Oshrat, Girschikofsky Michael, Jacobsen Eric D, Toyama Kazuhiro, Goodman Aaron M, Hendrie Paul, Cao Xin-Xin, Estrada-Veras Juvianee I, Shpilberg Ofer, Abdo André, Kurokawa Mineo, Dagna Lorenzo, McClain Kenneth L, Mazor Roei D, Picarsic Jennifer, Janku Filip, Go Ronald S, Haroche Julien, Diamond Eli L
Abstract excerpt
Erdheim-Chester disease (ECD) is a rare histiocytosis that was recently recognized as a neoplastic disorder owing to the discovery of recurrent activating MAPK (RAS-RAF-MEK-ERK) pathway mutations. Typical findings of ECD include central diabetes insipidus, restrictive pericarditis, perinephric fibrosis, and sclerotic bone lesions. The histopathologic diagnosis of ECD is often challenging due to nonspecific...
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