具有新型RREB1::TFE3基因融合的上皮样血管内皮瘤。

IF 3.1 3区 医学 Q1 PATHOLOGY
Thomas Schumacher, Baptiste Ameline, Alexander Vogetseder, Beata Bode, Teodor Svantesson
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引用次数: 0

摘要

上皮样血管内皮瘤(EHE)是一种少见的具有中等恶性潜能的血管肿瘤。大多数病例的特征是WWTR1::CAMTA1基因融合,其次是YAP1::TFE3基因融合。我们报告了一例78岁女性的EHE,其RREB1::TFE3基因融合,据我们所知,以前没有描述过。在同时诊断为转移性肺腺癌的影像学检查中,偶然发现肿瘤为胸下软组织肿块。除此之外,患者的表现与EHE的常见临床表现一致。然而,在组织学上,肿瘤部分表现出不寻常的形态:一方面,单一上皮样肿瘤细胞的固体区域具有丰富的嗜酸性细胞质,另一方面,区域具有相当多且不寻常的多形性和多核性,因此与经典分子亚型的原型表型不明确一致。总之,本研究扩展了EHE的分子谱,为进一步研究其分子异质性提供了依据。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
An epithelioid hemangioendothelioma with a novel RREB1::TFE3 gene fusion.

Epithelioid hemangioendothelioma (EHE) is a rare vascular tumor of intermediate malignant potential. Most cases are characterized by a WWTR1::CAMTA1 gene fusion, with YAP1::TFE3 being the second most common. We present a case of EHE in a 78-year-old woman with an RREB1::TFE3 gene fusion, which, to our knowledge, has not previously been described. The tumor was detected incidentally as a subpectoral soft tissue mass during imaging for a simultaneously diagnosed metastatic pulmonary adenocarcinoma. Aside from this, the patient's presentation was consistent with common clinical findings in EHE. Histologically, however, the tumor partly revealed an uncommon morphology: on one hand, solid areas of monomorphic epithelioid tumor cells with abundant eosinophilic cytoplasm, and on the other, regions with considerable and unusual pleomorphism and multinucleation, thus not clearly aligning with the prototypical phenotypes of the classical molecular subtypes. In summary, this case expands the molecular spectrum of EHE and supports further investigation into its molecular heterogeneity.

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来源期刊
Virchows Archiv
Virchows Archiv 医学-病理学
CiteScore
7.40
自引率
2.90%
发文量
204
审稿时长
4-8 weeks
期刊介绍: Manuscripts of original studies reinforcing the evidence base of modern diagnostic pathology, using immunocytochemical, molecular and ultrastructural techniques, will be welcomed. In addition, papers on critical evaluation of diagnostic criteria but also broadsheets and guidelines with a solid evidence base will be considered. Consideration will also be given to reports of work in other fields relevant to the understanding of human pathology as well as manuscripts on the application of new methods and techniques in pathology. Submission of purely experimental articles is discouraged but manuscripts on experimental work applicable to diagnostic pathology are welcomed. Biomarker studies are welcomed but need to abide by strict rules (e.g. REMARK) of adequate sample size and relevant marker choice. Single marker studies on limited patient series without validated application will as a rule not be considered. Case reports will only be considered when they provide substantial new information with an impact on understanding disease or diagnostic practice.
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