He Xue-Rui, Liu Zheng, Wei Jing, Li Wan-Jun, Liu Tao
Department of Ophthalmology, 3201 Hospital, Xi'an Jiaotong University Health Science Center, 783 Tianhan Ave, Hanzhong, 723000, Shaanxi Province, China.
Department of Ophthalmology, Xi'an Hospital, Aviation Industry Corporation of China, Beijing, China.
Int Ophthalmol. 2019 Feb;39(2):471-475. doi: 10.1007/s10792-018-0829-y. Epub 2018 Jan 30.
Desmoplastic small round cell tumor is a rare malignant neoplasm that most often occurs in the abdomen or pelvis of young men. We herein describe a rare case of desmoplastic small round cell tumor arising from the left orbit in a 16-year-old male.
A biopsy was performed and the histology showed the nests of tumor cells with small round cell morphology. The tumor cells showed immunopositivity for desmin, CD99, CD56, SMA, NSE, CgA, SYN, Ki67 and vimentin. Fluorescence in situ hybridization study using EWSR1 break-apart probe was positive for EWSR1 gene rearrangement. After complete surgical resection of the tumor, we did not find tumor recurrence or metastasis with one-year follow-up. Furthermore, a review of the relevant English literature has been discussed.
In the present study, for the first time, we report a case of desmoplastic small round cell tumor which is located in the orbital region.
促结缔组织增生性小圆细胞肿瘤是一种罕见的恶性肿瘤，最常发生于年轻男性的腹部或盆腔。我们在此描述一例16岁男性患者左眼眶发生促结缔组织增生性小圆细胞肿瘤的罕见病例。
进行了活检，组织学检查显示肿瘤细胞巢呈小圆细胞形态。肿瘤细胞对结蛋白、CD99、CD56、平滑肌肌动蛋白、神经元特异性烯醇化酶、嗜铬粒蛋白A、突触素、Ki67和波形蛋白呈免疫阳性。使用EWSR1断裂分离探针进行的荧光原位杂交研究显示EWSR1基因重排呈阳性。肿瘤完整手术切除后，随访一年未发现肿瘤复发或转移。此外，还讨论了相关英文文献综述。
在本研究中，我们首次报告了一例位于眼眶区域的促结缔组织增生性小圆细胞肿瘤病例。
