Sustained Efficacy of Targeted Therapy with Vemurafenib in BRAF^(V600e) - Mutated Erdheim - Chester Disease

Kimberly D. Tran, Juan Ayala-Haedo, Oliver Fischer, Sander R. Dubovy and Sara T. Wester

Department of Ophthalmology, University of Miami, USA

^*Correspondance to: Sara T. Wester 

 PDF  Full Text DOI: 10.25107/2474-1647.1230

Abstract

The authors report the case of a 45-year-old African American female with complex history of pituitary mass, diabetes insipidus, anasarca, congestive heart failure, right atrial mass, cardiac tamponade, pericardial effusions, retroperitoneal fibrosis, and lower extremity arthralgia, who presented for evaluation of bilateral exophthalmos and intraconal orbital masses. Orbital biopsy revealed histiocytic infiltrate with immunohistochemical staining positively for CD 68, and negatively for S100 and CD1a, as well as genetic testing positive for the proto-oncogene B-Raf protein (BRAFV600E) mutation. The presentation was suggestive of Erdheim-Chester Disease, and the patient was treated with Vemurafenib with significant sustained clinical improvement.

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Cite the article

Tran KD, Ayala-Haedo J, Fischer O, Dubovy SR, Wester ST. Sustained Efficacy of Targeted Therapy with Vemurafenib in BRAF ^(V600e) - Mutated Erdheim - Chester Disease. Clin Surg. 2016; 1: 1230.