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Abstract：
Ewing sarcoma (ES) is primarily recognized as a primary bone tumor; however, its extraosseous variant is exceptionally rare and presents unique clinical challenges. In this article, we report the case of a 22-year-old male who initially presented with abdominal swelling. Diagnostic tests included abdominal imaging and a CT scan, revealing a solid liver mass. A thorough evaluation confirmed it to be an extraosseous ES, supported by liver biopsy and immunohistochemistry demonstrating positive expression for AE1/AE3 and CD-99, along with genetic analysis revealing a rearrangement of the EWSR1 gene (translocation 22q12). The patient\'s treatment involved a multimodal approach, including perioperative chemotherapy, surgery, and postoperative chemotherapy, following which the patient remained in complete remission after 24 months. This case emphasizes the importance of considering rare malignancies such as ES in differential diagnoses for young patients with liver masses. It also accentuates the pivotal role of family physicians in early detection and holistic patient care, underscoring the need for comprehensive investigations when encountering persistent symptoms.
摘要：
尤文肉瘤（ES）主要被认为是原发性骨肿瘤；然而，它的骨外变异非常罕见，并提出了独特的临床挑战。在这篇文章中,我们报告一例22岁男性,最初出现腹部肿胀.诊断测试包括腹部成像和CT扫描，显示出一个坚实的肝脏肿块。彻底的评估证实它是一种骨外ES，由肝活检和免疫组织化学支持，证明AE1/AE3和CD-99阳性表达，以及遗传分析显示EWSR1基因重排（易位22q12）。患者的治疗涉及多模式方法，包括围手术期化疗，手术,术后化疗，随后患者在24个月后仍处于完全缓解状态。该病例强调了在对年轻肝脏肿块患者的鉴别诊断中考虑罕见恶性肿瘤如ES的重要性。它还强调了家庭医生在早期发现和整体患者护理中的关键作用，强调在遇到持续性症状时需要进行全面调查。
