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Abstract：
BACKGROUND: Desmoplastic small round cell tumor (DSRCT) is a rare and rapidly metastasizing soft tissue sarcoma, distinguished by its unique cell morphology and pleomorphic differentiation.
METHODS: This report describes the case of an 18-year-old male diagnosed with abdominopelvic DSRCT exhibiting metastases to the peritoneum, liver, pleura, bone, and muscle. The patient primarily presented with symptoms of incomplete intestinal obstruction and an abdominal mass.
METHODS: Colonoscopy revealed lumen stenosis caused by external compression mass. Contrast-enhanced computed tomography and 18F-fluorodeoxyglucose positron emission tomography/computed tomography revealed multiple lesions in the abdominopelvic cavity. A needle biopsy of an abdominal wall lesion established it as a malignant tumor, origin unknown. Immunohistochemical staining post-surgery showed positive results for Cytokeratin (CK), CK7, Desmin, Vimentin, Caudal type homeobox 2 (CDX2), and Ki-67. Fluorescence in situ hybridization analysis revealed an Ewing sarcoma breakpoint region 1/EWS RNA binding protein 1 (EWSR1) rearrangement, and next-generation sequencing identified an EWSR1-Wilms tumor protein 1 (WT1) gene fusion.
METHODS: The patient underwent laparoscopic exploratory surgery, which encompassed biopsy, ascites drainage, adhesion lysis, reinforcement of weakened sections of the small intestinal walls, and repositioning of twisted intestines. Postoperatively, the treatment protocol included fasting, rehydration, gastrointestinal decompression, and parenteral nutrition. However, the patient did not received chemotherapy.
RESULTS: The patient declined further treatment and deceased in early November.
CONCLUSIONS: This case highlights the nonspecific nature of DSRCT symptoms. In clinical practice, it is crucial to meticulously evaluate unexplained intestinal obstruction in young patients, considering DSRCT as a differential diagnosis to avoid delays in diagnosis.
METHODS: This report describes the case of an 18-year-old male diagnosed with abdominopelvic DSRCT exhibiting metastases to the peritoneum, liver, pleura, bone, and muscle. The patient primarily presented with symptoms of incomplete intestinal obstruction and an abdominal mass.
METHODS: Colonoscopy revealed lumen stenosis caused by external compression mass. Contrast-enhanced computed tomography and 18F-fluorodeoxyglucose positron emission tomography/computed tomography revealed multiple lesions in the abdominopelvic cavity. A needle biopsy of an abdominal wall lesion established it as a malignant tumor, origin unknown. Immunohistochemical staining post-surgery showed positive results for Cytokeratin (CK), CK7, Desmin, Vimentin, Caudal type homeobox 2 (CDX2), and Ki-67. Fluorescence in situ hybridization analysis revealed an Ewing sarcoma breakpoint region 1/EWS RNA binding protein 1 (EWSR1) rearrangement, and next-generation sequencing identified an EWSR1-Wilms tumor protein 1 (WT1) gene fusion.
METHODS: The patient underwent laparoscopic exploratory surgery, which encompassed biopsy, ascites drainage, adhesion lysis, reinforcement of weakened sections of the small intestinal walls, and repositioning of twisted intestines. Postoperatively, the treatment protocol included fasting, rehydration, gastrointestinal decompression, and parenteral nutrition. However, the patient did not received chemotherapy.
RESULTS: The patient declined further treatment and deceased in early November.
CONCLUSIONS: This case highlights the nonspecific nature of DSRCT symptoms. In clinical practice, it is crucial to meticulously evaluate unexplained intestinal obstruction in young patients, considering DSRCT as a differential diagnosis to avoid delays in diagnosis.
摘要：
背景：促纤维化小圆细胞瘤（DSRCT）是一种罕见且快速转移的软组织肉瘤，其独特的细胞形态和多形性分化。
方法：本报告描述了一名18岁男性被诊断为腹骨盆DSRCT表现为腹膜转移的病例，肝脏,胸膜,骨头,和肌肉。患者主要表现为不完全性肠梗阻和腹部肿块的症状。
方法：结肠镜检查显示由外部压迫性肿块引起的管腔狭窄。对比增强计算机断层扫描和18F-氟代脱氧葡萄糖正电子发射断层扫描/计算机断层扫描显示腹肾盂腔有多处病变。腹壁病变的穿刺活检将其确定为恶性肿瘤，起源未知。术后免疫组化染色显示细胞角蛋白（CK）阳性，CK7,Desmin,Vimentin,尾端型homeobox2(CDX2),Ki-67荧光原位杂交分析显示尤文肉瘤断点区1/EWSRNA结合蛋白1（EWSR1）重排，下一代测序鉴定了EWSR1-Wilms肿瘤蛋白1（WT1）基因融合。
方法：患者接受腹腔镜探查手术，包括活检，腹水引流,粘连裂解,增强小肠壁的弱化部分，和扭曲的肠的重新定位。术后,治疗方案包括禁食，补液,胃肠减压,和肠外营养。然而,患者未接受化疗。
结果：患者拒绝进一步治疗，于11月初死亡。
结论：该病例突出了DSRCT症状的非特异性。在临床实践中,仔细评估年轻患者不明原因的肠梗阻至关重要，考虑DSRCT作为鉴别诊断以避免延误诊断。
方法：本报告描述了一名18岁男性被诊断为腹骨盆DSRCT表现为腹膜转移的病例，肝脏,胸膜,骨头,和肌肉。患者主要表现为不完全性肠梗阻和腹部肿块的症状。
方法：结肠镜检查显示由外部压迫性肿块引起的管腔狭窄。对比增强计算机断层扫描和18F-氟代脱氧葡萄糖正电子发射断层扫描/计算机断层扫描显示腹肾盂腔有多处病变。腹壁病变的穿刺活检将其确定为恶性肿瘤，起源未知。术后免疫组化染色显示细胞角蛋白（CK）阳性，CK7,Desmin,Vimentin,尾端型homeobox2(CDX2),Ki-67荧光原位杂交分析显示尤文肉瘤断点区1/EWSRNA结合蛋白1（EWSR1）重排，下一代测序鉴定了EWSR1-Wilms肿瘤蛋白1（WT1）基因融合。
方法：患者接受腹腔镜探查手术，包括活检，腹水引流,粘连裂解,增强小肠壁的弱化部分，和扭曲的肠的重新定位。术后,治疗方案包括禁食，补液,胃肠减压,和肠外营养。然而,患者未接受化疗。
结果：患者拒绝进一步治疗，于11月初死亡。
结论：该病例突出了DSRCT症状的非特异性。在临床实践中,仔细评估年轻患者不明原因的肠梗阻至关重要，考虑DSRCT作为鉴别诊断以避免延误诊断。
