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Erdheim-Chester Disease with Emperipolesis: A Unique Case Involving the Heart
Histiocytosis is an uncommon disease characterized by excessive accumulation of histiocytes. Here, we report a rare case of non-Langerhans-cell histiocytosis in a 51-year-old woman who presented with severe symptoms of pericardial effusion. Radiologic investigation also detected multiple bone (lower...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Korean Cancer Association
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5398381/ https://www.ncbi.nlm.nih.gov/pubmed/27488869 http://dx.doi.org/10.4143/crt.2016.078 |
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author | Zhu, Pengcheng Li, Naping Yu, Lu Miranda, Mariajose Navia Wang, Guoping Duan, Yaqi |
author_facet | Zhu, Pengcheng Li, Naping Yu, Lu Miranda, Mariajose Navia Wang, Guoping Duan, Yaqi |
author_sort | Zhu, Pengcheng |
collection | PubMed |
description | Histiocytosis is an uncommon disease characterized by excessive accumulation of histiocytes. Here, we report a rare case of non-Langerhans-cell histiocytosis in a 51-year-old woman who presented with severe symptoms of pericardial effusion. Radiologic investigation also detected multiple bone (lower limbs, vertebrae, ribs, and ilium) lesions. Resected pericardium showed abundant mono- or multi-nucleated non-foamy histiocytes (CD68(+)/CD163(+)/S-100(+)/CD1α(−)/langerin(−)) in a fibroinflammatory background. The histiocytes demonstrated emperipolesis of lymphocytes, a hallmark feature of Rosai-Dorfman disease (RDD). However, molecular analysis revealed a BRAF V600E mutation of the proliferating histiocytes, highlighting the neoplastic features frequently observed in another non-Langerhans-cell histiocytosis known as Erdheim-Chester Disease (ECD). We consider this case to be a unique presentation of ECD harboring some RDD-like cells with emperipolesis, but not a case of RDD with a BRAF mutation concerning its clinical manifestation (involvement of the heart and bones) and neoplastic features. |
format | Online Article Text |
id | pubmed-5398381 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Korean Cancer Association |
record_format | MEDLINE/PubMed |
spelling | pubmed-53983812017-05-05 Erdheim-Chester Disease with Emperipolesis: A Unique Case Involving the Heart Zhu, Pengcheng Li, Naping Yu, Lu Miranda, Mariajose Navia Wang, Guoping Duan, Yaqi Cancer Res Treat Case Report Histiocytosis is an uncommon disease characterized by excessive accumulation of histiocytes. Here, we report a rare case of non-Langerhans-cell histiocytosis in a 51-year-old woman who presented with severe symptoms of pericardial effusion. Radiologic investigation also detected multiple bone (lower limbs, vertebrae, ribs, and ilium) lesions. Resected pericardium showed abundant mono- or multi-nucleated non-foamy histiocytes (CD68(+)/CD163(+)/S-100(+)/CD1α(−)/langerin(−)) in a fibroinflammatory background. The histiocytes demonstrated emperipolesis of lymphocytes, a hallmark feature of Rosai-Dorfman disease (RDD). However, molecular analysis revealed a BRAF V600E mutation of the proliferating histiocytes, highlighting the neoplastic features frequently observed in another non-Langerhans-cell histiocytosis known as Erdheim-Chester Disease (ECD). We consider this case to be a unique presentation of ECD harboring some RDD-like cells with emperipolesis, but not a case of RDD with a BRAF mutation concerning its clinical manifestation (involvement of the heart and bones) and neoplastic features. Korean Cancer Association 2017-04 2016-07-28 /pmc/articles/PMC5398381/ /pubmed/27488869 http://dx.doi.org/10.4143/crt.2016.078 Text en Copyright © 2017 by the Korean Cancer Association This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Zhu, Pengcheng Li, Naping Yu, Lu Miranda, Mariajose Navia Wang, Guoping Duan, Yaqi Erdheim-Chester Disease with Emperipolesis: A Unique Case Involving the Heart |
title | Erdheim-Chester Disease with Emperipolesis: A Unique Case Involving the Heart |
title_full | Erdheim-Chester Disease with Emperipolesis: A Unique Case Involving the Heart |
title_fullStr | Erdheim-Chester Disease with Emperipolesis: A Unique Case Involving the Heart |
title_full_unstemmed | Erdheim-Chester Disease with Emperipolesis: A Unique Case Involving the Heart |
title_short | Erdheim-Chester Disease with Emperipolesis: A Unique Case Involving the Heart |
title_sort | erdheim-chester disease with emperipolesis: a unique case involving the heart |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5398381/ https://www.ncbi.nlm.nih.gov/pubmed/27488869 http://dx.doi.org/10.4143/crt.2016.078 |
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