Di Mauro Annabella, Tafuto Salvatore, Cannella Lucia, Collina Francesca, Neri Giovanni, Clemente Ottavia, D'Arbitrio Imma, Ricci Francesca, Lastoria Secondo, Ferrara Gerardo, De Chiara Annarosaria
Pathology Unit, Istituto Nazionale Tumori, IRCCS-Fondazione G. Pascale, 80131 Napoli, Italy.
Sarcomas and Rare Tumors Unit, Istituto Nazionale Tumori, IRCCS-Fondazione G. Pascale, 80131 Naples, Italy.
Curr Oncol. 2025 Apr 10;32(4):219. doi: 10.3390/curroncol32040219.
Pseudomyogenic haemangioendotheliomas (PMH) are exceedingly rare, mostly occurring in soft tissue, with malignant cases even more uncommon. In this report, we present a case of a 28-year-old male initially suspected of having a fibroblastic osteosarcoma of the right femur, which was then correctly diagnosed as a primary pseudomyogenic hemangioendothelioma of the bone with synchronous metastases to other skeletal segments. Molecular analysis through targeted RNA sequencing confirmed the correct diagnosis, revealing a fusion transcript . To our knowledge, this is one of the few reported cases of suffering from multiple pathological fractures. The rapid skeletal progression and the onset of distant metastases in this case is highly unusual considering the typically indolent clinical course commonly reported in the literature for this tumor.
假肌源性血管内皮瘤（PMH）极为罕见，大多发生于软组织，恶性病例更为少见。在本报告中，我们呈现了一例28岁男性病例，该患者最初被怀疑患有右股骨成纤维细胞性骨肉瘤，随后被正确诊断为原发性骨假肌源性血管内皮瘤并伴有其他骨骼节段的同步转移。通过靶向RNA测序进行的分子分析证实了正确诊断，揭示了一种融合转录本。据我们所知，这是少数有多发病理性骨折报道的病例之一。考虑到文献中通常报道的该肿瘤典型的惰性临床病程，此病例中骨骼的快速进展和远处转移的发生极为罕见。
