Liu Dan, Liu Xiaoge, Deng Yan, Wu Ran, Li Xin
Department of Radiology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology, Chengdu, China.
Department of Ultrasound, Ya' an People's Hospital, Ya' an, China.
Front Pediatr. 2025 Aug 29;13:1602157. doi: 10.3389/fped.2025.1602157. eCollection 2025.
Undifferentiated small round cell sarcoma (USRCS) is an extremely rare and highly aggressive group of malignant neoplasms affecting bones and soft tissues. USRCSs, particularly extraosseous variants pose significant diagnostic challenges due to their rarity, similar clinicoradiological features, nonspecific morphology and the necessity for comprehensive molecular analyses. This paper discusses a rare interesting case of retroperitoneal USRCS in a 12-year-old female with a five-day history of diarrhea and slight right lower abdominal pain. Hematological profile, renal function test, liver function test and tumor markers were in normal limits. Preoperative imaging revealed a well-defined, highly vascularized mass in the lower right retroperitoneal space, featuring patchy calcification and osseous and fatty components that compressed the right ureter, causing obstructive hydroureteronephrosis. Given the clinical and imaging findings. The lesion was initially misdiagnosed as a benign teratoma. However, postoperative pathology and genetic testing confirmed USRCS, remarkably, the Ki-67 index was only 10%. The patient did not undergo any additional postoperative treatment and achieved long-term survival. Despite USRCS in the retroperitoneal space with calcification has been reported, we believe this is the first published case of USRCS with calcification and osseous and fatty components mimicking teratoma. The case is important in that it demonstrates the unusual imaging appearance of retroperitoneal USRCS.
未分化小圆细胞肉瘤(USRCS)是一组极其罕见且侵袭性很强的恶性肿瘤,可累及骨骼和软组织。USRCS,尤其是骨外型,由于其罕见性、相似的临床放射学特征、非特异性形态以及进行全面分子分析的必要性,带来了重大的诊断挑战。本文讨论了一例罕见且有趣的病例,一名12岁女性患有腹膜后USRCS,有5天腹泻和右下腹轻微疼痛病史。血液学检查、肾功能检查、肝功能检查和肿瘤标志物均在正常范围内。术前影像学检查显示右下腹腹膜后间隙有一个边界清晰、血管丰富的肿块,有斑片状钙化以及骨质和脂肪成分,压迫右输尿管,导致梗阻性肾盂积水。鉴于临床和影像学检查结果,该病变最初被误诊为良性畸胎瘤。然而,术后病理和基因检测确诊为USRCS,值得注意的是,Ki-67指数仅为10%。该患者未接受任何额外的术后治疗,实现了长期生存。尽管已有腹膜后间隙伴有钙化的USRCS的报道,但我们认为这是首例有钙化以及骨质和脂肪成分且酷似畸胎瘤的USRCS病例报道。该病例的重要性在于它展示了腹膜后USRCS不同寻常的影像学表现。