原发性肾血管母细胞瘤的临床病理特征

Clinicopathologic study of primary renal hemangioblastoma

目的：研究肾脏原发性血管母细胞瘤的临床病理学特征、免疫表型、诊断及鉴别诊断。方法对收集的3例肾脏原发性血管母细胞瘤进行了组织学、免疫组织化学、分子生物学分析，并复习相关文献。结果例1为57岁女性，例2为43岁男性，例3为53岁女性，影像学检查均发现肾脏占位性病变。均行患侧肾切除，镜下观察到3例均有厚壁纤维包膜与肾组织分界，2例富于细胞，1例富含血管网，肿瘤细胞呈上皮样或梭形，3例胞质内均有脂质空泡，2例见透明滴，2例有出血，1例有包膜侵犯并见坏死。免疫组织化学染色：本组肿瘤免疫组织化学表达α-抑制素（3／3）、S-100蛋白（3／3）、表皮生长因子受体（EGFR，2／2）、PAX-2（2／2）、PAX-8（2／2）及CA9（2／2），CD10（3／3）灶区阳性，而广谱细胞角蛋白（ CKpan，2／2）和HMB45（2／2）阴性。分子检测示2例VHL基因3个外显子均未突变，第3号染色体短臂无缺失。结论本组3例为特殊的肾血管母细胞瘤，其多样的组织学形态扩展了血管母细胞瘤的形态学谱系。在肾血管母细胞瘤中，PAX-2、PAX-8和CD10阳性结果应引起关注，联合使用多个免疫组织化学染色标志物有助于这些肾肿瘤的鉴别诊断。

Objective To study the clinicopathologic characteristics of primary renal hemangioblastoma.Methods The morphologic features, immunophenotype and molecular findings of 3 cases of primary renal hemangioblastoma were studied, with review of literature.Results The age of patients ranged from 43 to 57 years.There were 2 women and a man.The patients often presented with renal mass.Histologically, the tumors were surrounded by thick fibrous capsule and composed of epithelioid or spindle cells.Two cases had a prominent stromal component and the other one was rich in capillary network. Lipid vacuoles were observed in all cases.Features of hemorrhage were demonstrated in 2 cases.Capsular invasion and necrosis were seen in 1 case.Immunohistochemical study showed that the stromal cells were positive for alpha-inhibin （3/3）, S-100 protein （3/3）, EGFR （2/2）, PAX-2 （2/2）, PAX-8 （2/2） and CA9 （2/2） but negative for CKpan （2/2） and HMB45 （2/2）.Focal membranous staining for CD10 （3/3） was noted.No VHL gene mutations or chromosome 3p deletion were detected in the 2 cases studied. Conclusions Renal hemangioblastoma shows distinctive morphologic appearance with a wide range of variation.The unexpected positive staining for PAX-2, PAX-8 and CD10 in renal hemangioblastoma needs to be aware.Immunohistochemical study may be helpful in differential diagnosis of these renal tumors.