title: Erdheim-Chester disease with an 18F-fluorodeoxyglucose-avid breast mass and BRAF V600E mutation.
abstract: Erdheim-Chester disease (ECD) is a non-Langerhans cell histiocytosis. Herein we report a case of a 49-year-old woman who developed bilateral knee pain. Imaging procedures revealed multiple long bone lesions and a well-defined 18F-fluorodeoxyglucose-avid mass in the left breast. The breast mass was resected, and an open biopsy was performed on the right femoral lesion. Both specimens revealed involvement by histiocytic infiltrates with features suggestive of ECD. The BRAF V600E mutation was detected by DNA sequencing and immunohistochemistry.
authors: Department of Radiology, Research Hospital, The Institute of Medical Science, The University of Tokyo, 4-6-1, Shirokanedai, Minato-ku, Tokyo, 108-8639, Japan, tfuruta-tky@umin.ac.jp.
authors: Toshihiro
authors: T
authors: Furuta
authors: Shigeru
authors: S
authors: Kiryu
authors: Haruyasu
authors: H
authors: Yamada
authors: Masataka
authors: M
authors: Hosoi
authors: Mineo
authors: M
authors: Kurokawa
authors: Teppei
authors: T
authors: Morikawa
authors: Junji
authors: J
authors: Shibahara
authors: Kuni
authors: K
authors: Ohtomo
mesh_terms: D001706:Biopsy; D001943:Breast Neoplasms / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000601:surgery; D003937:Diagnosis, Differential; D031249:Erdheim-Chester Disease / Q000175:diagnosis* / Q000235:genetics* / Q000601:surgery; D005260:Female; D019788:Fluorodeoxyglucose F18; D006801:Humans; D007150:Immunohistochemistry; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D049268:Positron-Emission Tomography; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D019275:Radiopharmaceuticals; D014057:Tomography, X-Ray Computed
chemical_list: D019275:Radiopharmaceuticals; D019788:Fluorodeoxyglucose F18; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf