Mankertz Fiona, Keßler Rebecca, Rau Andrea, Seebauer Christian, Ribback Silvia, Busemann Alexandra
Institute for Diagnostic Radiology and Neuroradiology, University Medicine Greifswald, Ferdinand-Sauerbruch-Str., 17475 Greifswald, Germany.
Department of Oral and Maxillofacial Surgery/Plastic Operations, University Medicine Greifswald, Ferdinand-Sauerbruch-Str., 17475 Greifswald, Germany.
Diseases. 2023 Aug 23;11(3):108. doi: 10.3390/diseases11030108.
An aneurysmal fibrous histiocytoma is a rare cutaneous soft-tissue tumour which accounts for approximately 0.06% of all dermatopathologies. Metastasis is exceedingly uncommon, to the point that there have only been eight reported cases in the scientific literature. We present the case of a 25-year-old male with a primary aneurysmal fibrous histiocytoma located in the nuchal region which exhibited rapid growth and abrupt ulceration over a short time span and showed signs of locoregional aggressive infiltration. A subsequent histopathological analysis confirmed the presence of diffuse solid and cystic pulmonary metastases. Further genetic sequencing verified LAMTOR1-PRKCD fusion. This case report seeks to review the existing literature on aneurysmal fibrous histiocytoma, discuss the challenges of differential diagnosis and propose standardised diagnostic criteria.
动脉瘤样纤维组织细胞瘤是一种罕见的皮肤软组织肿瘤，约占所有皮肤病理学病例的0.06%。转移极为罕见，以至于科学文献中仅报道过8例。我们报告一例25岁男性，其原发性动脉瘤样纤维组织细胞瘤位于颈部区域，在短时间内迅速生长并突然溃疡，表现出局部侵袭性浸润的迹象。随后的组织病理学分析证实存在弥漫性实性和囊性肺转移。进一步的基因测序证实了LAMTOR1-PRKCD融合。本病例报告旨在回顾关于动脉瘤样纤维组织细胞瘤的现有文献，讨论鉴别诊断的挑战并提出标准化诊断标准。
