BRAF-Mutated Erdheim-Chester Disease: Profound Response to Vemurafenib Visualized With Serial Multimodality Imaging.

Document Type

Article

Publication Date

6-2020

Institution/Department

Radiology

Journal Title

Journal of the National Comprehensive Cancer Network

MeSH Headings

Antineoplastic Agents, Erdheim-Chester Disease, Female, Humans, Male, Middle Aged, Multimodal Imaging, Proto-Oncogene Proteins B-raf, Vemurafenib

Abstract

Erdheim-Chester disease (ECD) is an extremely rare and aggressive non-Langerhans histiocytic disorder. ECD typically presents with bone pain in middle-aged adults, although some patients present with multisystem disease involving the skeleton, central nervous system, cardiovascular system, lungs, and other disease sites. The etiology of ECD is currently unknown, but it is thought to be a reactive or neoplastic disorder. Recently, mutation of the BRAF gene has been found in >50% of ECD cases, and this gene has become a therapeutic target for patients with ECD. Vemurafenib, a BRAF inhibitor, has been approved by the FDA for treatment of ECD. This report presents an elderly male patient with an aggressive phenotype of ECD and highlights the utility of multimodality imaging in monitoring the clinical course and disease response to treatment with vemurafenib.

ISSN

1540-1413

First Page

650

Last Page

655

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