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Cytomorphology of Erdheim–Chester disease presenting as a retroperitoneal soft tissue lesion

Erdheim–Chester disease (ECD) is a rare, multisystem disorder of macrophages. Patients manifest with histiocytic infiltrates that lead to xanthogranulomatous lesions in multiple organ systems. The cytologic features of this disorder are not well characterized. As a result, the cytologic diagnosis of...

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Autores principales: Purgina, Bibianna, Jaffe, Ronald, Monaco, Sara E., Khalbuss, Walid E., Beasley, H. Scott, Dunn, John A., Pantanowitz, Liron
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3263029/
https://www.ncbi.nlm.nih.gov/pubmed/22279491
http://dx.doi.org/10.4103/1742-6413.91242
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author Purgina, Bibianna
Jaffe, Ronald
Monaco, Sara E.
Khalbuss, Walid E.
Beasley, H. Scott
Dunn, John A.
Pantanowitz, Liron
author_facet Purgina, Bibianna
Jaffe, Ronald
Monaco, Sara E.
Khalbuss, Walid E.
Beasley, H. Scott
Dunn, John A.
Pantanowitz, Liron
author_sort Purgina, Bibianna
collection PubMed
description Erdheim–Chester disease (ECD) is a rare, multisystem disorder of macrophages. Patients manifest with histiocytic infiltrates that lead to xanthogranulomatous lesions in multiple organ systems. The cytologic features of this disorder are not well characterized. As a result, the cytologic diagnosis of ECD can be very challenging. The aim of this report is to describe the cytomorphology of ECD in a patient presenting with a retroperitoneal soft tissue lesion. A 54-year-old woman with proptosis and diabetes insipidus was found on imaging studies to have multiple intracranial lesions, sclerosis of both femurs and a retroperitoneal soft tissue mass. Fine needle aspiration (FNA) and a concomitant core biopsy of this abnormal retroperitoneal soft tissue revealed foamy, epithelioid and multinucleated histiocytes associated with fibrosis. The histiocytes were immunoreactive for CD68, CD163, Factor XIIIa and fascin, and negative for S100, confirming the diagnosis of ECD. ECD requires a morphologic diagnosis that fits with the appropriate clinical context. This case describes the cytomorphologic features of ECD and highlights the role of cytology in helping reach a diagnosis of this rare disorder.
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spelling pubmed-32630292012-01-25 Cytomorphology of Erdheim–Chester disease presenting as a retroperitoneal soft tissue lesion Purgina, Bibianna Jaffe, Ronald Monaco, Sara E. Khalbuss, Walid E. Beasley, H. Scott Dunn, John A. Pantanowitz, Liron Cytojournal Case Report Erdheim–Chester disease (ECD) is a rare, multisystem disorder of macrophages. Patients manifest with histiocytic infiltrates that lead to xanthogranulomatous lesions in multiple organ systems. The cytologic features of this disorder are not well characterized. As a result, the cytologic diagnosis of ECD can be very challenging. The aim of this report is to describe the cytomorphology of ECD in a patient presenting with a retroperitoneal soft tissue lesion. A 54-year-old woman with proptosis and diabetes insipidus was found on imaging studies to have multiple intracranial lesions, sclerosis of both femurs and a retroperitoneal soft tissue mass. Fine needle aspiration (FNA) and a concomitant core biopsy of this abnormal retroperitoneal soft tissue revealed foamy, epithelioid and multinucleated histiocytes associated with fibrosis. The histiocytes were immunoreactive for CD68, CD163, Factor XIIIa and fascin, and negative for S100, confirming the diagnosis of ECD. ECD requires a morphologic diagnosis that fits with the appropriate clinical context. This case describes the cytomorphologic features of ECD and highlights the role of cytology in helping reach a diagnosis of this rare disorder. Medknow Publications & Media Pvt Ltd 2011-12-27 /pmc/articles/PMC3263029/ /pubmed/22279491 http://dx.doi.org/10.4103/1742-6413.91242 Text en © 2011 Purgina, et al.; licensee Cytopathology Foundation Inc. http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Purgina, Bibianna
Jaffe, Ronald
Monaco, Sara E.
Khalbuss, Walid E.
Beasley, H. Scott
Dunn, John A.
Pantanowitz, Liron
Cytomorphology of Erdheim–Chester disease presenting as a retroperitoneal soft tissue lesion
title Cytomorphology of Erdheim–Chester disease presenting as a retroperitoneal soft tissue lesion
title_full Cytomorphology of Erdheim–Chester disease presenting as a retroperitoneal soft tissue lesion
title_fullStr Cytomorphology of Erdheim–Chester disease presenting as a retroperitoneal soft tissue lesion
title_full_unstemmed Cytomorphology of Erdheim–Chester disease presenting as a retroperitoneal soft tissue lesion
title_short Cytomorphology of Erdheim–Chester disease presenting as a retroperitoneal soft tissue lesion
title_sort cytomorphology of erdheim–chester disease presenting as a retroperitoneal soft tissue lesion
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3263029/
https://www.ncbi.nlm.nih.gov/pubmed/22279491
http://dx.doi.org/10.4103/1742-6413.91242
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