Genetic and clinicopathologic study on a family with central nervous system hemangioblastoma in Luodian County, Guizhou Province
10.3760/cma.j.issn.1671-8925.2018.05.012
- VernacularTitle: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
- Author:
Tao LUO
1
;
Qu WANG
;
Chao WANG
;
Hao YIN
;
Chuangxi LIU
;
Guoqiang HAN
;
Yunbiao XIONG
;
Fangyou GAO
Author Information
1. 贵州省人民医院神经外科
- Keywords:
Central nervous system hemangioblastoma;
Familial;
Sporadic;
Genetics;
Pathology
- From:
Chinese Journal of Neuromedicine
2018;17(5):497-502
- CountryChina
- Language:Chinese
-
Abstract:
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-α 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.
