Skip to main content
Top
Published in: Japanese Journal of Radiology 5/2014

01-05-2014 | Case Report

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

Authors: Toshihiro Furuta, Shigeru Kiryu, Haruyasu Yamada, Masataka Hosoi, Mineo Kurokawa, Teppei Morikawa, Junji Shibahara, Kuni Ohtomo

Published in: Japanese Journal of Radiology | Issue 5/2014

Login to get access

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.
Literature
1.
go back to reference 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;75:157–69.CrossRef 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;75:157–69.CrossRef
2.
go back to reference Tan AP, Tan LK, Choo IH. Erdheim–Chester disease involving breast and muscle: imaging findings. AJR Am J Roentgenol. 1995;164:1115–7.PubMedCrossRef Tan AP, Tan LK, Choo IH. Erdheim–Chester disease involving breast and muscle: imaging findings. AJR Am J Roentgenol. 1995;164:1115–7.PubMedCrossRef
3.
go back to reference Ferrozzi F, Bova D, Tognini G, Zuccoli G. Pseudotumoral bilateral involvement of the breast in Erdheim–Chester disease: CT appearance. J Comput Assist Tomogr. 2000;24:281–3.PubMedCrossRef Ferrozzi F, Bova D, Tognini G, Zuccoli G. Pseudotumoral bilateral involvement of the breast in Erdheim–Chester disease: CT appearance. J Comput Assist Tomogr. 2000;24:281–3.PubMedCrossRef
4.
go back to reference Andrade VP, Nemer CC, Prezotti AN, Goulart WS. Erdheim–Chester disease of the breast associated with Langerhans-cell histiocytosis of the hard palate. Virchows Archiv. 2004;445:405–9.PubMedCrossRef Andrade VP, Nemer CC, Prezotti AN, Goulart WS. Erdheim–Chester disease of the breast associated with Langerhans-cell histiocytosis of the hard palate. Virchows Archiv. 2004;445:405–9.PubMedCrossRef
5.
go back to reference Barnes PJ, Foyle A, Hache KA, Langley RG, Burrell S, Juskevicius R. Erdheim–Chester disease of the breast: a case report and review of the literature. Breast J. 2005;11:462–7.PubMedCrossRef Barnes PJ, Foyle A, Hache KA, Langley RG, Burrell S, Juskevicius R. Erdheim–Chester disease of the breast: a case report and review of the literature. Breast J. 2005;11:462–7.PubMedCrossRef
6.
go back to reference 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;34:584–8.PubMedCrossRef 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;34:584–8.PubMedCrossRef
7.
8.
go back to reference 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;60:3128–38.PubMedCrossRef 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;60:3128–38.PubMedCrossRef
9.
go back to reference 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;52:41–6.CrossRef 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;52:41–6.CrossRef
10.
go back to reference 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;120:2700–3.PubMedCrossRef 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;120:2700–3.PubMedCrossRef
Metadata
Title
Erdheim–Chester disease with an 18F-fluorodeoxyglucose-avid breast mass and BRAF V600E mutation
Authors
Toshihiro Furuta
Shigeru Kiryu
Haruyasu Yamada
Masataka Hosoi
Mineo Kurokawa
Teppei Morikawa
Junji Shibahara
Kuni Ohtomo
Publication date
01-05-2014
Publisher
Springer Japan
Published in
Japanese Journal of Radiology / Issue 5/2014
Print ISSN: 1867-1071
Electronic ISSN: 1867-108X
DOI
https://doi.org/10.1007/s11604-014-0295-z

Other articles of this Issue 5/2014

Japanese Journal of Radiology 5/2014 Go to the issue