Department of Pathology, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital Zhengzhou Children's Hospital, Zhengzhou, 450018, China.
Department of Pathology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
Diagn Pathol. 2023 Jul 29;18(1):84. doi: 10.1186/s13000-023-01373-1.
Desmoplastic small round-cell tumors (DSRCT) frequently develop in the retroperitoneum, pelvis, omentum, and mesentery. Here, we present an unusual case of primary DSRCT in the liver. The patient was an 11-year-old boy with multiple solid masses in the liver parenchyma. The tumor in the needle biopsy had a histology revealing a small round cell morphology and desmoplasia. It shows the immunohistochemical features of DSRCT and documentation of EWSR1-WT1 fusion.A potential diagnostic pitfall is exerted when evaluating liver biopsy, in which DSRCT is a great mimicker and may be easily confused with more common liver malignancies of childhood, such as hepatoblastoma, calcifying nested stromal-epithelial tumor, undifferentiated embryonal sarcoma, and other small round cell tumors, as well as the fibrolamellar variant of hepatocellular carcinoma. This distinction is critical because an accurate therapeutic approach requires a correct diagnosis.
促结缔组织增生性小圆细胞肿瘤(DSRCT)常发生于腹膜后、骨盆、大网膜和肠系膜。本文报道了一例肝脏原发性 DSRCT 的罕见病例。患者为 11 岁男孩,肝脏实质内有多个实性肿块。针吸活检的肿瘤组织学表现为小圆细胞形态和促结缔组织增生,免疫组化显示 DSRCT 的特征,并证实 EWSR1-WT1 融合。在评估肝活检时可能会出现潜在的诊断陷阱,DSRCT 是一种很好的模拟物,可能很容易与儿童更常见的肝恶性肿瘤混淆,如肝母细胞瘤、钙化巢状间质-上皮肿瘤、未分化胚胎肉瘤和其他小圆细胞肿瘤,以及肝细胞癌的纤维板层变异型。这种鉴别至关重要,因为准确的治疗方法需要正确的诊断。