以附睾囊肿为首发症状的VHL综合征3例报告

Epididymal cyst in von hippel-lindau syndrome;Clinicopathologic analysis of 3 cases

目的:提高对以附睾囊肿为首发症状的von Hippel-Lindau(VHL)综合征的认识水平。方法:手术治疗3例附睾囊肿患者,对附睾组织进行常规病理和免疫组学检测,并加强术后随访观察。结果:3例均行手术切除附睾囊肿,附睾组织常规病理检查显示囊壁被覆上皮乳头样增生,进一步行免疫组化检查显示缺氧诱导因子(HIF-1α)、血管内皮生长因子(VEGF)、α平滑肌动蛋白(α-SMA)、CD34等表达均为阳性。随访期内,3例患者分别因VHL综合征家族史并肾癌、视网膜血管网织细胞瘤并肾癌、视网膜血管网织细胞瘤并肾上腺嗜铬细胞瘤而被确诊为VHL综合征。结论:附睾囊肿病理检查异常时应进一步作免疫组化分析,若结果提示HIF-1α、VEGF、α-SMA、CD34阳性表达时,应想到VHL综合征的可能性,并完善相关检查或加强术后随访。

Objective：To investigate the clinicopathologic features of epididymal cyst in von Hippel-Lindau（VHL） syndrome. Methods：We reviewed the clinical data of 3 epididymal cyst patients treated by surgery,and detected the expressions of HIF-1α, VEGF,α-SMA and CD34 in the epididymal tissue samples by the immunohistochemistry SP method.Results：All the 3 patients underwent surgical removal of the epididymal cyst.Immunohistochemistry of the epididymal tissues showed HIF-1α,VEGF,α-SMA and CD34 to be positive.All the 3 cases were confirmed to be VHL syndrome,1 right after surgery,and the other 2 within 8 years postoperatively. Conclusion：Epididymal cyst is a usual benign disease,which may occur independently of or be complicated by VHL syndrome.If immunohistochemistry of epididymal tissues shows HIF-1α,VEGF,α-SMA and CD34 to be positive,VHL syndrome should be considered,and further clinical examinations and post-operation follow-up are necessitated.