Does the BRAF(V600E) mutation herald a new treatment era for Erdheim-Chester disease? A case-based review of a rare and difficult to diagnose disorder.
Erdheim-Chester disease is a multi-system histiocyte disorder characterised by histological xanthogranulomatous inflammation. We report a 67-year-old man who had fatal multi-systemic Erdheim-Chester disease involvement, including retroperitoneal fibrosis, dilated cardiomyopathy and bone pain that was diagnosed late in its course and was refractory to interferon-alfa. A pathogenic BRAF(V600E) mutation, identified after death in this patient, provides insights into pathogenesis and opens potential lines of treatment.
Department of Clinical Immunology and Allergy, Westmead Hospital, Sydney, New South Wales, Australia; Department of Allergy, Immunology and Respiratory Medicine, Alfred Hospital, Melbourne, Victoria, Australia.
J
J
Bosco
A
A
Allende
W
W
Varikatt
R
R
Lee
G J
GJ
Stewart
D000368:Aged; D031249:Erdheim-Chester Disease / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D016896:Treatment Outcome
C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf
BRAFV600E; Erdheim-Chester disease; non-Langerhans-cell histiocytosis; retroperitoneal fibrosis