家族性中枢神经系统血管母细胞瘤VHL基因突变及表达
被引量:2
摘要
中枢神经系统血管母细胞瘤(central nervous system hemangioblastoma,CNSHB)是一种由密集血管丛和肿瘤基质细胞所组成的良性血管性肿瘤,占颅内肿瘤的2%和后颅窝肿瘤的10%。临床上可分为散发性HB和具有遗传背景的家族性HB。
出处
《中华神经外科杂志》
CSCD
北大核心
2013年第7期735-738,共4页
Chinese Journal of Neurosurgery
基金
贵州省科技厅社发项目基金[黔科合LG字(2012)053号]
贵阳市科技局民生计划[筑科合同(201203)39号]
参考文献11
-
1Vortmeyer AO,Gnarra JR,Emmert MR , et al . Von Hippel-Lindau gene deletion detected in the stromal cell component of acerebellar hemangioblastoma associated with von disease. HumPat hoi ,1997 ,28 :540-543.
-
2Hes FJ, van der Luijt RB, Janssen AL, et al. Frequency of VonHippel-Lindau germline mutations in classic and non-classic VonHippel-Lindau disease identified by DNA sequencing southernblot analysis and multiplex ligation-dependent probeamplification. Clin Genet,2007 , 72: 122-129.
-
3张大健,苏少波,刘春祥.Von Hippel-Lindau病变的研究进展病及其相关神经系统[J].国际遗传学杂志,2008,31(5):377-380. 被引量:5
-
4Losonczy G, Fazakas F,Pfliegler G, et al. Three novel germ-lineVHL mutations in hungarian Von Hippel-Lindau patients,including a nonsense mutation in a fifteen-year-old boy with renalcell carcinoma. BMC Med Genet,2013, 14: 3.
-
5丁兴华,周良辅,杜固宏.中枢神经系统血管母细胞瘤312例临床分析及长期随访[J].中华神经外科杂志,2005,21(2):83-87. 被引量:42
-
6Neumann HP, Eggert HR, Weigek K, et al. , Hemangiobla-stomas of the central neurous system. A 10-years study withspecial reference to Von Hippel-Lindau syndrome. J Neumsurg,1989, 70: 24-30.
-
7Russell RL, Gladys MG, Mcclettan W, et al. Von Hippel -Lindau disease. Lancet, 2003 ,361 : 2059-2066.
-
8丁兴华,赵曜,朱剑虹,周良辅.一例家族性中枢神经系统血管母细胞瘤的家系调查及VHL基因检测[J].中华神经外科杂志,2007,23(7):521-524. 被引量:12
-
9寸恩浩,杨军,于春江,李志强,梁继军.家族性同一部位血管母细胞瘤的诊断治疗(附两个家系报告)[J].中华神经外科杂志,2011,27(8):821-823. 被引量:5
-
10Carroll VA, Ashcroft M. Role of hypoxia-inducible factor( HIF-1alpha versus HIF-2 alpha in the regulation of HIF target genes inresponse to hypoxia, insulin-like growth factor-I, or lossof vonHippel-Lindau function : implications for targeting the HIFpathsay. Cancer Res, 2006, 66: 6264-6270.
二级参考文献56
-
1丁兴华,周良辅,杜固宏.中枢神经系统血管母细胞瘤312例临床分析及长期随访[J].中华神经外科杂志,2005,21(2):83-87. 被引量:42
-
2于士柱,杨露春,张景全,管欣琴,安同岭.家族性与非家族性血管母细胞瘤的临床病理对比分析[J].中国神经精神疾病杂志,1996,22(6):334-337. 被引量:5
-
3Choyke PL, Glenn GM, Wahher MM, et al. Von Hippel-Lindau disease: genetic, clinical, and imaging-features. Radiology, 1995, 194:629-642.
-
4Richard S, David P, Marsot-Dupuch K, et al. Central nervous system hemangioblastomas, endolymphatic sac tumors, and Von Hippel-Lindau disease. Neurosurg Rev, 2000,23 : 1-22.
-
5Shuin T, Yamazaki I, Tamura K, et al. Recent advances in ideas on the molecular pathology and clinical aspects of van Hippel-Lindan disease. Int J Clin Oncol, 2004, 9:283-287.
-
6Zbar B, Kaelin W, Maher E, et al. Third international meeting on yon Hipple-Lindau disease. Cancer Res, 1999, 59:2251-2253.
-
7Seizingger BR, Rouleau GA, Ozelius LJ, et al. von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma. Nature, 1988, 332:268-269.
-
8Latif F, Tory K, Gnarra J, et al. Identification of the Von Hippel- Lindau disease tumour suppressor gene. Science, 1993, 260: 1317-1320.
-
9Lonergan KM, Iliopoulos O, Ohh M, et al, Regulation of hypoxiainducible mRNAs by the yon Hippel-Lindau tumor suppressor protein requires binding to complexes containing elongins B/C and Cul2. Mol Cell Biol, 1998, 18:732-741.
-
10Pause A, Lee S, Worrell RA, et al. The yon Hippel-Lindau tumor suppressor gene product forms a stable complex with human CUL- 2, a member of the Cdc53 family of proteins. Proc Natl Acad Sci U S A, 1997, 94:2156-2161.
共引文献48
-
1刘金才,陈华平.血管母细胞瘤的MRI表现与诊断[J].CT理论与应用研究(中英文),2007,16(4):61-65. 被引量:1
-
2羊正祥,周志敏,耿炯,陈翔.延髓髓内血管母细胞瘤的诊断与治疗[J].临床神经外科杂志,2005,2(3):120-122. 被引量:3
-
3廖毅超,蒋广元,梁新强,宋星志,黄航.第四脑室肿瘤的手术处理策略(附21例报告)[J].右江民族医学院学报,2006,28(1):79-80. 被引量:1
-
4李剑,顾志恺,邓传宗.家族性脑血管母细胞瘤10例分析[J].中国神经肿瘤杂志,2005,3(4):280-283. 被引量:1
-
5戚芳,陈兵,赵革灵.后颅窝血管网织细胞瘤手术护理19例[J].齐齐哈尔医学院学报,2006,27(1):99-100.
-
6方兆阳,张永安,熊成英.颅内血管母细胞瘤49例临床分析及疗效观察[J].中华老年心脑血管病杂志,2007,9(1):60-60. 被引量:1
-
7尚寒冰,赵卫国,沈建康,濮春华,蔡瑜,林东,成侃.中枢神经系统血管母细胞瘤的显微外科治疗[J].中国现代神经疾病杂志,2008,8(1):52-55. 被引量:6
-
8查正江,吴霞,方晖,陈新生,李志宏,施正生,毛以成.颅内肿瘤352例诊治体会[J].安徽医学,2008,29(2):181-183. 被引量:2
-
9毛晓春,郑伟明,苏志鹏.家族性血管网状细胞瘤临床分析(附3个家系报告)[J].温州医学院学报,2008,38(1):82-84. 被引量:2
-
10曹胜武,傅震,胡卫星,李立新,顾培元.实质性小脑血管母细胞瘤12例临床分析[J].南京医科大学学报(自然科学版),2008,28(12):1653-1655. 被引量:2
同被引文献28
-
1王新莲,桑春玉,何悦明,胡业帅.MRI诊断家族性血管母细胞瘤三例[J].中华临床医师杂志(电子版),2011,5(6):1838-1840. 被引量:3
-
2丁兴华,周良辅,杜固宏.中枢神经系统血管母细胞瘤312例临床分析及长期随访[J].中华神经外科杂志,2005,21(2):83-87. 被引量:42
-
3方晖,查正江,陈新生.小脑血管母细胞瘤的诊断和治疗[J].中国临床神经科学,2006,14(5):505-508. 被引量:5
-
4丁兴华,赵曜,朱剑虹,周良辅.一例家族性中枢神经系统血管母细胞瘤的家系调查及VHL基因检测[J].中华神经外科杂志,2007,23(7):521-524. 被引量:12
-
5Conway JE,Chou D,Clatterbucu RE. Hemangioblas-tomas of the central nervous system in von Hippel-Lindau syndrome and sporadic disease[J].{H}NEUROSURGERY,2001,(01):55-62.
-
6Miyagami M,Katayama Y. Long-term prognosis of heman-gioblastomas of the central nervous system:clinical and immunohistochemical study in relation to recurrence[J].{H}Brain Tumor Pathology,2004,(02):75-82.
-
7Jarrell ST,Vortmeyer AO,Linehan WM. Metastases to hemangioblastomas in von-Hippel-Lindau disease[J].Neurosurg,2006,(02):256-263.
-
8Rasmussen A,Nava-Salazar S,Yescas P. Von H ippel-Lindau disease germline mutations in Mexican patients with cerebellar hemangioblastoma[J].Neurosurg,2006,(03):389-394.
-
9H.Richard Winn. Youmans Neurological Surgery(Volume 1)[M].Elsevier(Singapore)Pte Ltd,2004.829-841.
-
10Jagannathan J,Lonser RR,Smith R. Surgical management of cerebellar hemangioblastomas in patients with von Hippel-Lindau disease[J].Neurosurg,2008,(02):210-222.
引证文献2
-
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-
2张国臣,韩磊,赵四军,王重韧,尤宇,徐欣,赵明.同一家族五例血管母细胞瘤的诊治分析及文献复习[J].中华神经外科杂志,2017,33(11):1157-1159.
-
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-
2白杨,苏醒,王世强,赵忠赢,李蕴潜.家族性von Hippel-Lindau病三例[J].中华临床医师杂志(电子版),2013,7(12):199-199.
-
3丁兴华,赵曜,朱剑虹,周良辅.一例家族性中枢神经系统血管母细胞瘤的家系调查及VHL基因检测[J].中华神经外科杂志,2007,23(7):521-524. 被引量:12
-
4丁兴华,周良辅,毛颖,赵曜,龚佳蕾.应用cDNA微阵列技术初步分析中枢神经系统血管母细胞瘤的基因表达谱[J].中华实验外科杂志,2006,23(2):251-251. 被引量:5
-
5李兰凤,任志平.1例不典型小儿后颅窝肿瘤的临床观察及护理[J].护理实践与研究,2006,3(1):53-54.
-
6周辉,吴震,王亮,张俊廷.延-颈髓交界区血管母细胞瘤合并脑室内出血一例并文献复习[J].中华神经外科杂志,2013,29(8):781-783. 被引量:2
-
7王素英,丁华新,张慧芝,林芝,杨育生.von Hippel-Lindau综合征三例临床病理分析[J].中华病理学杂志,2015,44(4):284-285.
-
8邢成颜,翟峰,张作兵,王旭.林道氏综合征1例报道[J].医用放射技术杂志,2004(7):79-79.
-
9王年华,贾若飞,阙思伟,冷海斌,梅涛,聂猛,王俊,钟晨,袁辉纯,夏俊,谢小明,徐立新.中枢神经系统血管母细胞瘤的诊断及显微外科治疗[J].国际神经病学神经外科学杂志,2015,42(2):139-143. 被引量:3
-
10马德选,周良辅.中枢神经系统血管母细胞瘤[J].中华神经外科杂志,2014,30(2):206-208. 被引量:16