Erdheim Chester disease with appendicular skeletal, renal and pleural involvement responding to Zelboraf (BRAF inhibitor) treatment: case report Journal Article


Authors: Borys, D; Nystrom, L.; Song, A; Lomasney, L. M.
Article Title: Erdheim Chester disease with appendicular skeletal, renal and pleural involvement responding to Zelboraf (BRAF inhibitor) treatment: case report
Abstract: Erdheim Chester disease is a rare non-Langerhans cell histiocytosis which may involve multiple organs including bone, soft tissue, lungs, cardiovascular system, kidneys (retroperitoneum), skin, and central nervous system. Bone involvement is most common followed by other organs. This case report describes a 58-year-old man who presented with progressive renal dysfunction presumed due to obstruction. The patient failed multiple urinary tract interventions, and clinical course was complicated by recurrent low-grade fevers, and bilateral knee pain. Advanced imaging and histopathological features on bone biopsy were consistent with Erdheim Chester disease. Molecular studies of tissue showed BRAF V600 mutation. This patient was treated with Zelboraf (vemurafenib) BRAF inhibitor with subsequent improvement in renal and pleural dysfunction as well as decreased histiocytic soft tissue masses on CT.
Journal Title: Skeletal radiology
ISSN: 1432-2161; 0364-2348
Publisher: Unknown  
Date Published: 2016
Language: ENG
DOI/URL:
Notes: LR: 20160717; JID: 7701953; OTO: NOTNLM; 2016/04/07 [received]; 2016/06/27 [accepted]; 2016/06/23 [revised]; 2016/07/16 [aheadofprint]; aheadofprint