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Does the BRAF V600E mutation herald a new treatment era for E rdheim– C hester disease? A case‐based review of a rare and difficult to diagnose disorder
Author(s) -
Bosco J.,
Allende A.,
Varikatt W.,
Lee R.,
Stewart G. J.
Publication year - 2015
Publication title -
internal medicine journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.596
H-Index - 70
eISSN - 1445-5994
pISSN - 1444-0903
DOI - 10.1111/imj.12685
Subject(s) - medicine , erdheim–chester disease , etanercept , pathogenesis , mutation , inflammation , disease , pathology , cancer research , fibrosis , dilated cardiomyopathy , histiocyte , rare disease , immunology , histiocytosis , heart failure , tumor necrosis factor alpha , biochemistry , chemistry , gene
Abstract E rdheim– C hester 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.