Schumacher Thomas, Ameline Baptiste, Vogetseder Alexander, Bode Beata, Svantesson Teodor
Department of Pathology, Cantonal Hospital Lucerne, Lucerne, Switzerland.
Institute for Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.
Virchows Arch. 2025 Jul 12. doi: 10.1007/s00428-025-04183-6.
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.
上皮样血管内皮瘤（EHE）是一种具有中等恶性潜能的罕见血管肿瘤。大多数病例的特征是WWTR1::CAMTA1基因融合，YAP1::TFE3是第二常见的。我们报告了一例78岁女性的EHE病例，其具有RREB1::TFE3基因融合，据我们所知，此前尚未有过相关描述。该肿瘤是在对同时诊断出的转移性肺腺癌进行成像检查时，偶然发现为胸肌下软组织肿块。除此之外，患者的表现与EHE的常见临床发现一致。然而，在组织学上，肿瘤部分呈现出一种不常见的形态：一方面，是具有丰富嗜酸性细胞质的单形性上皮样肿瘤细胞的实性区域，另一方面，是具有相当程度且不寻常的多形性和多核的区域，因此与经典分子亚型的典型表型并不完全相符。总之，该病例扩展了EHE的分子谱，并支持对其分子异质性进行进一步研究。
