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 wa...

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Bibliographic Details
Published in:	Internal medicine journal Vol. 45; no. 3; pp. 348 - 351
Main Authors:	Bosco, J, Allende, A, Varikatt, W, Lee, R, Stewart, G J
Format:	Journal Article
Language:	English
Published:	Australia 01-03-2015
Subjects:	Aged Erdheim-Chester Disease - diagnosis Erdheim-Chester Disease - genetics Erdheim-Chester Disease - therapy Fatal Outcome Humans Male Mutation - genetics Proto-Oncogene Proteins B-raf - genetics Treatment Outcome BRAFV600E Erdheim-Chester disease non-Langerhans-cell histiocytosis retroperitoneal fibrosis
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Summary:	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.
Bibliography:	ObjectType-Case Study-3 SourceType-Scholarly Journals-1 content type line 23 ObjectType-Review-1 ObjectType-Feature-5 ObjectType-Report-2 ObjectType-Article-4
ISSN:	1445-5994
DOI:	10.1111/imj.12685