Hahn Daniel, Velasquez Lauren, Muller Nickolas, Lawless Margaret
Internal Medicine, Touro College of Osteopathic Medicine, New York, USA.
Pathology, St. Mary's General Hospital, Passaic, USA.
Cureus. 2025 Mar 19;17(3):e80853. doi: 10.7759/cureus.80853. eCollection 2025 Mar.
Retroperitoneal Ewing sarcoma is a rare and aggressive extraskeletal variant of Ewing sarcoma, often presenting with nonspecific symptoms that can delay diagnosis. We discuss the case of a 19-year-old male who presented to the emergency room with progressive left abdominal and flank pain. Imaging revealed a retroperitoneal, necrotic mass and biopsy with immunohistochemistry confirmed retroperitoneal Ewing sarcoma with NKX2.2 and CD99 positivity. Fluorescence in situ hybridization (FISH) analysis showed that 98% of cells had an EWSR1 gene rearrangement. For treatment, the patient underwent a CT-guided biopsy and chemotherapy was initiated. The sometimes-insidious progression of retroperitoneal Ewing sarcoma, coupled with the retroperitoneal space's ability to accommodate tumors without significant symptoms, often leads to late-stage diagnosis and poor prognosis. This report emphasizes the importance of early recognition and highlights the need for further research into optimal diagnostic protocols and treatment strategies.
腹膜后尤因肉瘤是尤因肉瘤一种罕见且侵袭性的骨外变体，常表现为非特异性症状，可导致诊断延迟。我们讨论了一名19岁男性的病例，该患者因进行性左腹部和侧腹痛就诊于急诊室。影像学检查发现腹膜后有一个坏死肿块，活检及免疫组化证实为腹膜后尤因肉瘤，NKX2.2和CD99呈阳性。荧光原位杂交（FISH）分析显示98%的细胞存在EWSR1基因重排。治疗方面，患者接受了CT引导下活检并开始化疗。腹膜后尤因肉瘤有时进展隐匿，加上腹膜后间隙能够容纳肿瘤而无明显症状，常导致晚期诊断和预后不良。本报告强调了早期识别的重要性，并突出了对最佳诊断方案和治疗策略进行进一步研究的必要性。
