贵州省罗甸县一中枢神经系统血管母细胞瘤家系成员的VHL基因分析及病理学研究  

Genetic and clinlcopathologic study on a family with central nervous system hemangioblastoma in Luodian County, Guizhou Province

作　　者：罗涛[1] 王曲[1] 王超[1] 尹浩[1] 刘窗溪[1] 韩国强[1] 熊云彪[1] 高方友[1] Luo Tao;Wang Qu;Wang Chao;Yin Hao;Liu Chuangxi;Hart Guoqiang;Xiong Yunbiao;Gao Fangyou(Department of Neurosurgery, Provincial People＇s Hospital of Guizhou, Guiyang 550002, Chin)

机构地区：[1]贵州省人民医院神经外科,贵阳550002

出　　处：《中华神经医学杂志》2018年第5期497-502,共6页Chinese Journal of Neuromedicine

摘　　要：目的 探讨中枢神经系统血管母细胞瘤（CNS-HB）家系的致病基因以及家族性与散发性CNS-HB的病理学特征. 方法 提取贵州省罗甸县一CNS-HB家系中现存活的42例成员的外周血DNA,采用PCR技术对VHL基因外显子1、2、3进行扩增并测序.应用HE染色和免疫组化染色分别对该家系中6例家族性CNS-HB患者的肿瘤标本（囊性6枚,实性3枚）,以及做对照的9例散发性CNS-HB患者的肿瘤标本（囊性8枚,实性1枚）进行染色观察. 结果 42例成员均未发现VHL基因突变.HE染色可见肿瘤细胞主要由毛细血管网和间质细胞组成,间质细胞体积较大,胞质丰富,淡嗜伊红,形态各异,泡沫状或毛玻璃样,散在地分布于毛细血管网间,无核分裂象及坏死.免疫组化染色显示间质细胞的抑制素-α阳性表达比为11/18,Ki-67阳性表达比为14/18;血管内皮细胞的CD31阳性表达比为17/18.家族性与散发性CNS-HB组织中抑制素-α、Ki-67、CD31的阳性表达比差异均无统计学意义（P＞0.05）. 结论 家族性CNS-HB的发病机制不仅与VHL基因突变有关,还与其他因素相关.家族性与散发性CNS-HB的病理学特征相似.Objective To explore the pathogenic gene for the family with central nervous system hemangioblastoma （CNS-HB） in Luodian County, Guizhou Province and the pathologic features of familial and sporadic CNS-HB. Methods The peripheral blood from 42 members of the family with CNS-HB was obtained for DNA extraction. The exons 1, 2 and 3 of VHL gene were amplified and sequenced by PCR. Light microscopy and immunohistochemical staining were applied for pathological observation of the tumor tissues harvested intraoperatively from 6 cases of the familial CNS-HB and from another 9 cases of sporadic CNS-HB as controls. A total of 9 specimens of familial CNS-HB （6 cystic and 3 solid） and 9 specimens of sporadic CNS-HB （8 cystic and one solid） were harvested. Results VHL gene mutations were not detected among the 42 members of familial CNS-HB. HE staining showed that the tumors were made up of capillary network and large vacuolated interstitial cells with abundant cytoplasm which were pale eosinophilic, polygon-shaped, foamy or ground-glass opaque, and scattered between the capillary network. No nucleus fission or necrosis was observed, Immunohistochemical staining showed the positive expression of Inhibin-a was 11/18 and that of Ki-67 was 14/18 in the interstitial cells and the positive expression of CD31 in the endothelial cells was 17/18. There were no significant differences between familial and sporadic CNS-HB in the positive expression of Inhibin-α, Ki-67 or CD31 （P〉0.05）. Conclusions The pathogenesis of familial CNS-HB may be associated with not only VHL gene mutation but also other factors. Familial and sporadic CNS-HB may be similar in pathological features.

关 键 词：中枢神经系统血管母细胞瘤 家族性 散发性 遗传学 病理学 

分 类 号：R739.41[医药卫生—肿瘤]