{"title":"Erdheim-Chester Disease in a 48-Year Old Woman with “An Unknown Tumour of the Heart:” An Autopsy Report.","authors":"L. A. Lynggård, M. Nørgaard, L. Fog, U. Baandrup","doi":"10.21203/rs.3.rs-91171/v1","DOIUrl":null,"url":null,"abstract":"\n Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis. ECD is considered a potentially severe multi-systemic disease with life-threatening manifestations due to the compression of normal structures. Recently, mutation of the proto-oncogene BRAF (BRAFV600E) has been found in 100% of cases. The common sites of involvement are the skeleton, central nervous system, cardiovascular system, lungs, retroperitoneum and skin. We present the autopsy case of a 48-year old caucasian woman with an unknown tumour of the heart, where autopsy revealed the diagnosis of ECD. The clinical, radiological, and pathological manifestations associated with ECD are highlighted.","PeriodicalId":43475,"journal":{"name":"AJSP-Reviews and Reports","volume":"8 1","pages":""},"PeriodicalIF":0.2000,"publicationDate":"2020-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"AJSP-Reviews and Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.21203/rs.3.rs-91171/v1","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis. ECD is considered a potentially severe multi-systemic disease with life-threatening manifestations due to the compression of normal structures. Recently, mutation of the proto-oncogene BRAF (BRAFV600E) has been found in 100% of cases. The common sites of involvement are the skeleton, central nervous system, cardiovascular system, lungs, retroperitoneum and skin. We present the autopsy case of a 48-year old caucasian woman with an unknown tumour of the heart, where autopsy revealed the diagnosis of ECD. The clinical, radiological, and pathological manifestations associated with ECD are highlighted.
期刊介绍：
Each issue of Pathology Case Reviews examines one vital theme in the field with peer-reviewed, clinically oriented case reports that focus on diagnosis, specimen handling and reports generation. Each theme-oriented issue covers both histopathologic and cytopathologic cases, offering a comprehensive perspective that includes editorials and review articles of the newest developments in the field, differential diagnosis hints, applications of new technologies, reviews of current issues and techniques and an emphasis on new approaches.
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