176例血管母细胞瘤的临床病理特征分析

Clinicopathological Features Analysis of 176 cases of Hemangioblastoma

目的 探讨血管母细胞瘤的临床病理特征、诊断及鉴别诊断。方法 收集176例血管母细胞瘤患者的临床影像和组织学资料,行组织芯片及免疫组织化学染色等。结果 176例血管母细胞瘤主要位于小脑,其次位于脑干。22例表现为多灶性。6例Von Hippel-Lindau(VHL)综合征患者,其中1例出现肿瘤—肿瘤转移(肾透明细胞癌转移至血管母细胞瘤)。组织学上由富于脂质的泡沫状细胞和丰富的血管构成,其中4例伴有髓外造血,形态学与胚胎血岛形成显著相似。免疫组织化学染色结果显示,肿瘤细胞a-抑制素、D2-40、波形蛋白、性别决定区域Y相关的高迁移率族框(SOX)9和SOX2等呈阳性表达,而细胞角蛋白、CD10、胶质纤维酸性蛋白等呈阴性表达,Ki-67增殖指数低。随访144例,随访时间为1~288个月,27例复发,其余病例无瘤生存。结论 血管母细胞瘤是少见的中枢神经系统肿瘤,可伴髓外造血,应注意与中枢神经系统中其他肿瘤及转移性肾透明细胞癌等进行鉴别,免疫组织化学染色可辅助诊断及鉴别诊断。

Objective To investigate the clinicopathological features,diagnosis and differential diagnosis of hemangioblastoma.Methods Clinical imaging data and histology of 176 patients with hemangioblastoma were collected,tissue microarray and immunohistochemical staining were all done,and the literature was reviewed.Results 176 cases of hemangioblastoma were mainly located in the cerebellum,followed by the brainstem.22 cases showed multifocality.Of the 6 patients with Von Hippel-Lindau(VHL)syndrome,1 developed tumor-tumor metastasis(metastasis of renal clear cell carcinoma to hemangioblastoma).Histological features:It is composed of lipid-rich foamy cells and abundant blood vessels.Among them,4 cases are accompanied by extramedullary hematopoiesis,and the morphology is significantly similar to that of embryonic blood islands.Immunohistochemical staining showed that the tumor cells were mostly positively expressed a-inhibin,D2-40,Vimentin,SRY-related high mobility group-box gene 9(SOX9),SRY-related high mobility group-box gene 2(SOX2),etc.,while Cytokeratin(CK),CD10,glial fibrillary acidic protein(GFAP),etc.,were mostly negatively expressed,and the Ki-67 proliferation index was low.144 cases were followed up for 1 to 288 months.27 cases relapsed,and the remaining cases survived without tumor.Conclusion Hemangioblastoma is a rare central nervous system tumor,which may be accompanied by extramedullary hematopoiesis.It should be distinguished from other central nervous system tumors and metastatic renal clear cell carcinoma.Immunohistochemistry can assist in the diagnosis and differential diagnosis.