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.
authors.affiliation: Department of Pathology, Loyola University Medical Center Chicago, Maywood, IL, USA. dborys@lumc.edu.|Departmet of Orthopaedic Surgery, Loyola University Medical Center Chicago, Maywood, IL, USA. dborys@lumc.edu.|Loyola University Medical Center, 2160 S. First Ave., Maywood, IL, 60153, USA. dborys@lumc.edu.
authors.forename: Dariusz
authors.initials: D
authors.lastname: Borys
authors.affiliation: Departmet of Orthopaedic Surgery, Loyola University Medical Center Chicago, Maywood, IL, USA.
authors.forename: Lucas
authors.initials: L
authors.lastname: Nystrom
authors.affiliation: Department of Radiology, Loyola University Medical Center Chicago, Maywood, IL, USA.
authors.forename: Albert
authors.initials: A
authors.lastname: Song
authors.affiliation: Departmet of Orthopaedic Surgery, Loyola University Medical Center Chicago, Maywood, IL, USA.|Department of Radiology, Loyola University Medical Center Chicago, Maywood, IL, USA.
authors.forename: Laurie M
authors.initials: LM
authors.lastname: Lomasney
mesh_terms: D001847:Bone Diseases / Q000000981:diagnostic imaging / Q000188:drug therapy* / Q000473:pathology; D003937:Diagnosis, Differential; D031249:Erdheim-Chester Disease / Q000000981:diagnostic imaging / Q000188:drug therapy* / Q000473:pathology; D006801:Humans; D007211:Indoles / Q000627:therapeutic use*; D007674:Kidney Diseases / Q000000981:diagnostic imaging / Q000188:drug therapy* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010995:Pleural Diseases / Q000000981:diagnostic imaging / Q000188:drug therapy* / Q000473:pathology; D048493:Proto-Oncogene Proteins B-raf / Q000037:antagonists & inhibitors; D013449:Sulfonamides / Q000627:therapeutic use*; D014057:Tomography, X-Ray Computed / Q000379:methods; D016896:Treatment Outcome; D000077484:Vemurafenib
chemical_list: D007211:Indoles; D013449:Sulfonamides; D000077484:Vemurafenib; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf
keywords: Erdheim Chester disease; Histiocytosis; Nephropathy; Sclerotic bone lesions