Erdheim–Chester disease with an 18F-fluorodeoxyglucose-avid breast mass and BRAF V600E mutation

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• 作者：Toshihiro Furuta (1)
  Shigeru Kiryu (1)
  Haruyasu Yamada (1)
  Masataka Hosoi (2)
  Mineo Kurokawa (2) (3)
  Teppei Morikawa (4)
  Junji Shibahara (4)
  Kuni Ohtomo (5)
  
• 关键词：Erdheim–Chester disease ; Breast ; 18F ; Fluorodeoxyglucose ; Positron emission tomography ; BRAF protein ; human
• 刊名：Japanese Journal of Radiology
• 出版年：2014
• 出版时间：May 2014
• 年：2014
• 卷：32
• 期：5
• 页码：282-287
• 全文大小：
• 参考文献：1. Veyssier-Belot C, Cacoub P, Caparros-Lefebvre D, Wechsler J, Brun B, Remy M, et al. Erdheim-Chester disease. Clinical and radiologic characteristics of 59 cases. Medicine (Baltimore). 1996;75:157-9. CrossRef
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  6. Provenzano E, Barter SJ, Wright PA, Forouhi P, Allibone R, Ellis IO. Erdheim–Chester disease presenting as bilateral clinically malignant breast masses. Am J Surg Pathol. 2010;34:584-. CrossRef
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  8. Arnaud L, Malek Z, Archambaud F, Kas A, Toledano D, Drier A, et al. 18F-fluorodeoxyglucose-positron emission tomography scanning is more useful in followup than in the initial assessment of patients with Erdheim–Chester disease. Arthritis Rheum. 2009;60:3128-8. CrossRef
  9. Diehl AM, Risse JH, Sengupta S, Vogl T, Freyschmidt J, Hamscho N, et al. Fluorine-18-fluoro-deoxyglucose positron emission tomography follow-up in Erdheim Chester disease: comparison with X-ray, scintigraphy, CT and MRI. Eur J Radiol Extra. 2004;52:41-. CrossRef
  10. Haroche J, Charlotte F, Arnaud L, von Deimling A, Helias-Rodzewicz Z, Hervier B, et al. High prevalence of BRAF V600E mutations in Erdheim–Chester disease but not in other non-Langerhans cell histiocytoses. Blood. 2012;120:2700-. CrossRef
  
• 作者单位：Toshihiro Furuta (1)
  Shigeru Kiryu (1)
  Haruyasu Yamada (1)
  Masataka Hosoi (2)
  Mineo Kurokawa (2) (3)
  Teppei Morikawa (4)
  Junji Shibahara (4)
  Kuni Ohtomo (5)
  
  1. Department of Radiology, Research Hospital, The Institute of Medical Science, The University of Tokyo, 4-6-1, Shirokanedai, Minato-ku, Tokyo, 108-8639, Japan
  2. Department of Hematology and Oncology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
  3. Department of Cell Therapy and Transplantation, The University of Tokyo Hospital, Tokyo, Japan
  4. Department of Pathology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
  5. Department of Radiology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
  
• ISSN：1867-108X

文摘

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.