Desmoplastic small round cell tumors (DSRCTs) of the gastrointestinal (GI) tract are a rare and highly aggressive variant of soft tissue sarcomas, predominantly affecting the abdominal region. These tumors are believed to originate from multipotent mesenchymal stem cells or primitive progenitor cells. They are composed of small round tumor cells associated with prominent stromal desmoplasia, polyphenotypic differentiation, andEWSR1::WT1gene fusion. Diagnostically, DSRCTs present a significant challenge due to their histological resemblance to other small round cell tumors, such as Ewing sarcoma and rhabdomyosarcoma, necessitating the use of ancillary tests, including immunopanels and molecular analysis, to reach a definitive diagnosis. Immunohistochemical staining, including markers like cytokeratin, vimentin, desmin, and WT1, has proven valuable in differentiating DSRCTs from their mimickers. The prognosis of these tumors is highly dependent on factors such as tumor location and stage at diagnosis, and given their aggressive nature, a multidisciplinary approach may be required that combines surgical resection, chemotherapy, and radiation therapy, among other options. In this review, we provide a synopsis of the pathophysiology of DSRCTs and the latest diagnostic advancements, including the utility of molecular profiling and novel biomarkers.
胃肠道促结缔组织增生性小圆细胞肿瘤是一种罕见且高度侵袭性的软组织肉瘤亚型，主要累及腹部区域。这类肿瘤被认为起源于多能间充质干细胞或原始祖细胞，其组织学特征表现为小圆形肿瘤细胞伴随显著的间质促结缔组织增生、多表型分化以及EWSR1::WT1基因融合。由于该肿瘤在组织学上与尤文肉瘤、横纹肌肉瘤等其他小圆细胞肿瘤具有相似性，诊断时需借助免疫组化检测和分子分析等辅助检查才能明确诊断，这给临床鉴别带来显著挑战。免疫组织化学染色（包括细胞角蛋白、波形蛋白、结蛋白和WT1等标志物）已被证实对鉴别促结缔组织增生性小圆细胞肿瘤与其他相似肿瘤具有重要价值。此类肿瘤的预后高度依赖于肿瘤位置和诊断时的分期等因素，鉴于其侵袭性特征，通常需要采用包括手术切除、化疗和放疗在内的多学科综合治疗方案。本文综述了促结缔组织增生性小圆细胞肿瘤的病理生理学机制及最新诊断进展，重点探讨了分子谱分析和新型生物标志物的临床应用价值。
Desmoplastic Small Round Cell Tumors of the Gastrointestinal Tract
肿瘤(癌症)患者之家