促纤维组织增生性小圆细胞肿瘤的临床病理特征

Clinicopathological characteristics of desmoplastic small round cell tumor

目的探讨促纤维组织增生性小圆细胞肿瘤(DSRCT)的临床病理特点及鉴别诊断,并探讨其与临床表现之间的联系。方法对1例促纤维组织增生性小圆细胞肿瘤累及小肠、大肠及盆腔的临床病理学特点、免疫表型及特异性基因进行分析,并结合相关文献进行讨论。结果病变累及部位原有结构被破坏,肿瘤组织呈大小不一、形状不规则巢状、条索状及片状分布,瘤细胞体积中等大小,胞界不清,胞质红染/淡染,核类圆、略不规则,深染,可见核仁及核分裂象,间质多量纤维组织增生伴片状坏死;免疫组化染色显示肿瘤细胞表达EMA、desmin、NSE、WT-1、HER-2及p40等标记物。结论促纤维组织增生性小圆细胞肿瘤临床表现复杂多样与其发生部位有关,病理形态学、免疫组化结合EWS-WT1基因检测是诊断的重要方法。

Objective To analyze the clinicopathological features and differential diagnosis in desmoplastic small round cell tumor(DSRCT).Methods The histological changes,immunohistochemical phenotypes and specific genes were analyzed in one case of DSRCT involving the small intestine,large intestine and pelvis with the review of related literatures.Results The original structure of the affected part of the lesion was destroyed,and the tumor tissues were distributed in different sizes,with irregular nests,cords and patches patterns.The tumor cells were medium in size,with unclear cell boundaries,red/lightly stained cytoplasm,round and slightly irregular nuclei,darkly stained,nucleoli and mitotic images were visible,and there was a large amount of fibrous tissue proliferation in the interstitium with lamellar necrosis.Immunohistochemical staining showed that tumor cells expressed markers such as EMA,Desmin,NSE,WT-1,HER-2 and P40.Conclusion Complex clinical manifestations are related to its location of DSRCT,and it is usually diagnosed by the morphology,immunohistochemistry combined with the amplification of EWS-WT1.