一名48岁女性患有“未知的心脏肿瘤”的厄德海姆-切斯特病:尸检报告。

IF 0.2 AJSP-Reviews and Reports Pub Date : 2020-10-15 DOI:10.21203/rs.3.rs-91171/v1

L. A. Lynggård, M. Nørgaard, L. Fog, U. Baandrup

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摘要

Erdheim-Chester病(ECD)是一种罕见的非朗格汉斯细胞组织细胞增多症。ECD被认为是一种潜在的严重的多系统疾病，由于正常结构受到压迫，表现为危及生命。近年来，在100%的病例中发现了原癌基因BRAF (BRAFV600E)的突变。常见的受累部位有骨骼、中枢神经系统、心血管系统、肺、腹膜后和皮肤。我们提出的尸体解剖的情况下，48岁的高加索妇女与未知的肿瘤的心脏，其中尸检显示诊断ECD。强调与ECD相关的临床、放射学和病理表现。

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Erdheim-Chester Disease in a 48-Year Old Woman with “An Unknown Tumour of the Heart:” An Autopsy Report.

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.

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AJSP-Reviews and Reports PATHOLOGY-

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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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