Wang Pei, Liu Yixiong, Liu Xiquan, Yan Qingguo, Wang Lu
Department of Pathology, Weinan Central Hospital Weinan, Shaanxi, P. R. China.
State Key Laboratory of Cancer Biology, Department of Pathology, Xijing Hospital and School of Basic Medicine, Fourth Military Medical University Xi'an, Shaanxi, P. R. China.
Int J Clin Exp Pathol. 2018 May 1;11(5):2864-2868. eCollection 2018.
Desmoplastic small round cell tumor (DSRCT) is a rare malignancy most commonly originating in the peritoneum. Only rare cases occur outside the abdomen. The present study describes a case of DSRCT in a young adolescent male who initially presented with an orbital mass. The diagnosis was confirmed by the presence of a polyphenotypic immunoprofile (positive for desmin and neural markers) and the characteristic EWS-WT1 gene fusion. Tumor histologically had an entirely solid pattern, lacking evidence of desmoplastic stroma. This purely solid variant shows that when occurring at an atypical location, DSRCT may be difficult to recognize. This reported case of DSRCT draws attention to the importance of including DSRCT in the differential diagnosis of orbital tumors.
促结缔组织增生性小圆细胞肿瘤(DSRCT)是一种罕见的恶性肿瘤,最常见于起源于腹膜。仅极少数病例发生在腹部以外。本研究描述了一例年轻青少年男性的DSRCT病例,该患者最初表现为眼眶肿物。通过多表型免疫组化特征(结蛋白和神经标志物阳性)以及特征性的EWS-WT1基因融合确诊。肿瘤组织学上呈现完全实性的形态,缺乏促结缔组织增生性间质的证据。这种纯实性变体表明,当DSRCT发生在非典型部位时,可能难以识别。该报道的DSRCT病例提醒人们注意在眼眶肿瘤的鉴别诊断中纳入DSRCT的重要性。