转移至胸膜和纵隔淋巴结的原发性肺上皮样血管内皮细胞瘤，具有突出的横纹肌样细胞形态，显示CAMTA1::WWTR1融合以及新型PRDM1和TNFRSF14突变。

IF 1.2 4区医学 Q4 CELL BIOLOGY Cytopathology Pub Date : 2024-06-28 DOI:10.1111/cyt.13416

Maria F. Gonzalez, Anjali Seth

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引用次数: 0

摘要

WWTR1::CAMTA1融合的上皮样血管内皮瘤病例可表现为横纹细胞形态。由于缺乏胞浆内腔隙、明显的横纹状细胞形态以及血管标志物表达的多变性，EHE 的诊断具有挑战性。因此，高度怀疑和辅助研究（免疫组化和新一代测序）有助于对这些病例做出明确诊断。

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Primary pulmonary epithelioid hemangioendothelioma metastatic to the pleura and mediastinal lymph node with a prominent rhabdoid cytomorphology showing CAMTA1::WWTR1 fusion and novel PRDM1 and TNFRSF14 mutations

Cases of epithelioid hemangioendothelioma with WWTR1::CAMTA1 fusion can show rhabdoid cytomorphology. Lack of intracytoplasmic luminal spaces, marked rhabdoid cytomorphology, and variability in the expression of vascular markers makes the diagnosis of EHE challenging. Therefore, a high level of suspicion and ancillary studies (immunohistochemistry and next generation sequencing) help reach a definitive diagnosis in these cases.

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来源期刊

Cytopathology 生物-病理学

CiteScore

2.30

自引率

15.40%

发文量

107

审稿时长

6-12 weeks

期刊介绍： The aim of Cytopathology is to publish articles relating to those aspects of cytology which will increase our knowledge and understanding of the aetiology, diagnosis and management of human disease. It contains original articles and critical reviews on all aspects of clinical cytology in its broadest sense, including: gynaecological and non-gynaecological cytology; fine needle aspiration and screening strategy. Cytopathology welcomes papers and articles on: ultrastructural, histochemical and immunocytochemical studies of the cell; quantitative cytology and DNA hybridization as applied to cytological material.