Department of Pathology, Peking University Shenzhen Hospital, 518001 Shenzhen, China.
Hum Pathol. 2010 Mar;41(3):438-42. doi: 10.1016/j.humpath.2009.08.015. Epub 2009 Nov 13.
Desmoplastic small round cell tumor is a highly aggressive neoplasm that generally involves the peritoneum and pelvis of young patients. Only rare cases occur outside the abdomen. We report a case presenting as a primary submandibular gland tumor in a 24-year-old man. Histologically, although there were irregular tumor islands lying in an abundant desmoplastic stroma, there were also areas comprising large cellular islands with scanty stroma in between, raising the differential diagnosis of various salivary gland carcinomas. The tumor cells were medium sized, with hyperchromatic nuclei and moderate amounts of cytoplasm. The diagnosis of desmoplastic small round cell tumor was confirmed by the presence of a polyphenotypic immunoprofile (positive for cytokeratin, desmin, and neuron-specific enolase) and the characteristic EWS-WT1 gene fusion. Although rare, desmoplastic small round cell tumor has to be considered in the differential diagnosis of poorly differentiated neoplasms of the salivary gland, especially in young patients.
促纤维增生性小圆细胞肿瘤是一种高度侵袭性的肿瘤，通常累及年轻患者的腹膜和骨盆。只有极少数情况下发生在腹部以外。我们报告了一例 24 岁男性表现为原发性下颌下腺肿瘤的病例。组织学上，尽管存在不规则的肿瘤岛状结构位于丰富的促纤维增生性基质中，但也有包含大细胞岛状结构且其间基质稀少的区域，这增加了各种唾液腺癌的鉴别诊断。肿瘤细胞中等大小，核深染，细胞质中等量。存在多表型免疫组化表型（细胞角蛋白、结蛋白和神经元特异性烯醇化酶阳性）和特征性 EWS-WT1 基因融合，诊断为促纤维增生性小圆细胞肿瘤。尽管罕见，但在鉴别诊断唾液腺低分化肿瘤时，尤其是在年轻患者中，必须考虑到促纤维增生性小圆细胞肿瘤。
