Pižem Jože, Boštjančič Emanuela, Zupan Andrej, Salapura Vladka, Mavčič Blaž, Blatnik Ana, Blatnik Olga, Unk Mojca, Kern Izidor, Švarc Miha, Matjašič Alenka
Institute of Pathology, Faculty of Medicine, University of Ljubljana, Korytkova 2, 1000, Ljubljana, Slovenia.
Faculty of Medicine, University of Ljubljana, Vrazov Trg 2, 1000, Ljubljana, Slovenia.
Virchows Arch. 2024 Dec;485(6):1175-1181. doi: 10.1007/s00428-024-03962-x. Epub 2024 Nov 4.
There is an emerging group of distinct vascular neoplasms with NFATC1/2 fusions, involving bones and soft tissues and often displaying focal epithelioid morphology, variable atypia of endothelial cells, predominantly vasoformative and in some cases focal solid growth. Although they may show aggressive local growth and may recur locally, malignant behaviour has not been documented. We present a case of a 35-year-old woman with multiple vascular neoplasms with a EWSR1::NFATC2 fusion involving the lungs, multiple bones (vertebra, femurs, tibia, pelvis) and probably the liver. The bone lesions were locally aggressive and recurred after surgical treatment. Nine years after the first manifestation, there was progression to an epithelioid angiosarcoma. The patient died 3 months after the diagnosis of epithelioid angiosarcoma with massive lung and liver involvement(metastases). In addition to the EWSR1::NFATC2 fusion, an activating PIK3CA gene mutation was identified in the angiosarcoma but not in the previously diagnosed bone tumours. To the best of our knowledge, this is the first documentation of malignant progression of a vascular neoplasm with NFATC1/2 fusion as well as visceral (lung) involvement.
出现了一组独特的具有NFATC1/2融合的血管肿瘤，累及骨骼和软组织，常表现为局灶性上皮样形态，内皮细胞异型性各异，主要呈血管形成性，在某些情况下呈局灶性实性生长。尽管它们可能表现出侵袭性局部生长且可能局部复发，但尚未有恶性行为的记录。我们报告一例35岁女性，患有多个具有EWSR1::NFATC2融合的血管肿瘤，累及肺、多块骨骼（椎骨、股骨、胫骨、骨盆），可能还累及肝脏。骨病变具有局部侵袭性，手术治疗后复发。首次发病9年后，进展为上皮样血管肉瘤。患者在诊断为上皮样血管肉瘤且肺和肝脏大量受累（转移）3个月后死亡。除了EWSR1::NFATC2融合外，在血管肉瘤中还鉴定出一个激活的PIK3CA基因突变，但在先前诊断的骨肿瘤中未发现。据我们所知，这是首次记录具有NFATC1/2融合的血管肿瘤发生恶性进展以及内脏（肺）受累的情况。
