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伴有融合现象的骨盆骨角蛋白阳性巨细胞丰富性肿瘤:一例报告

Keratin Positive Giant Cell Rich Tumor of the Pelvic Bone with a Fusion: A Case Report.

作者信息

Geuens Lise, Sciot Raf, Vanden Bempt Isabelle, Douchy Thomas, Sinnaeve Friedl, Wafa Hazem

机构信息

Department of orthopedic oncology, UZ Leuven, Leuven, Belgium.

Department of pathology, UZ Leuven, Leuven, Belgium.

出版信息

Int J Surg Pathol. 2025 Aug;33(5):1267-1270. doi: 10.1177/10668969241308224. Epub 2025 Jan 8.

Abstract

Keratin positive giant cell rich tumor is a rare mesenchymal tumor first described in 2020. It can occur in both soft tissue and bone and predominantly affects young women. The tumor's biological behavior remains uncertain despite its low-grade classification. Characterized by keratin expression and a gene fusion, keratin positive giant cell rich tumors resemble conventional giant cell tumors but lacks gene mutations. This article presents a 31-year-old woman with a keratin positive giant cell rich tumor in the pelvic bone, detailing her clinical presentation, diagnostic process, treatment, and postoperative recovery. Histological examination revealed numerous osteoclast-like giant cells within a mononuclear stroma, with RNA sequencing confirming the fusion. The patient's management included surgical resection, with no recurrence at six months follow-up. The discussion emphasizes the need for further research to understand keratin positive giant cell rich tumors pathogenesis and explore potential targeted therapies.

摘要

富含角蛋白的阳性巨细胞瘤是一种罕见的间充质肿瘤,于2020年首次被描述。它可发生于软组织和骨骼,主要影响年轻女性。尽管该肿瘤被归类为低级别,但它的生物学行为仍不确定。富含角蛋白的阳性巨细胞瘤以角蛋白表达和基因融合为特征,类似于传统巨细胞瘤,但缺乏基因突变。本文介绍了一名31岁患有骨盆骨富含角蛋白的阳性巨细胞瘤的女性,详细阐述了她的临床表现、诊断过程、治疗及术后恢复情况。组织学检查显示在单核基质中有大量破骨细胞样巨细胞,RNA测序证实了融合。患者的治疗包括手术切除,随访6个月无复发。讨论强调需要进一步研究以了解富含角蛋白的阳性巨细胞瘤的发病机制,并探索潜在的靶向治疗方法。

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