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中枢神经系统血管母细胞瘤中冯·希佩尔-林道肿瘤抑制基因的突变

Mutations in the von hippel-lindau tumour suppressor gene in central nervous system hemangioblastomas.

作者信息

Cybulski Cezary, Matyjasik Joanna, Soroka Marianna, Szymaś Janusz, Górski Bohdan, Debniak Tadeusz, Jakubowska Anna, Bernaczyk Andrzej, Zimnoch Lech, Bierzyńska-Macyszyn Grazyna, Trojanowski Tomasz, Wierzba-Bobrowicz Teresa, Prudlak Edmund, Markowska-Wojciechowska Alicja, Nowacki Przemysław, Roszkiewicz Andrzej, Kordek Radzisław, Szylberg Tadeusz, Matyja Ewa, Zieliński Krzysztof, Woźniewicz Bogdan, Taraszewska Anna, Kozłowski Wojciech, Lubiński Jan

机构信息

International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.

出版信息

Hered Cancer Clin Pract. 2004 Mar 15;2(2):93-7. doi: 10.1186/1897-4287-2-2-93.

Abstract

Central nervous system hemangioblastomas (cHAB) are rare tumours which most commonly arise in the cerebellum. Most tumours are sporadic, but as many as one third of cHABs occur in the course of the hereditary disorder - von Hippel-Lindau disease (VHL). In order to diagnose new VHL families in Poland we performed sequencing of the entire VHL gene in archival material (paraffin embedded hemangioblastoma tissues) in a large series of 203 unselected patients with cHAB. VHL gene mutations were detected in 70 (41%) of 171 tumour samples from which DNA of relatively good quality was isolated. We were able to obtain blood samples from 19 of mutation positive cases. Eight (42%) of these harboured germline mutations in persons from distinct undiagnosed VHL families.

摘要

中枢神经系统血管母细胞瘤(cHAB)是一种罕见肿瘤,最常发生于小脑。大多数肿瘤为散发性,但多达三分之一的cHAB发生于遗传性疾病——冯·希佩尔-林道病(VHL)病程中。为了在波兰诊断新的VHL家系,我们对203例未经选择的cHAB患者的存档材料(石蜡包埋的血管母细胞瘤组织)进行了整个VHL基因的测序。在171个分离出质量相对较好DNA的肿瘤样本中,有70个(41%)检测到VHL基因突变。我们从19例突变阳性病例中获取了血样。其中8例(42%)在来自不同未确诊VHL家系的个体中携带种系突变。

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