Mutations in the von Hippel-Lindau Tumour Suppressor Gene in Central Nervous System Hemangioblastomas

Hereditary Cancer in Clinical Practice

Jan Lubiński⁵  Wojciech Kozłowski^1,14  Anna Taraszewska^1,10  Bogdan Woźniewicz⁷  Krzysztof Zieliński^1,17  Ewa Matyja^1,10  Tadeusz Szylberg²  Radzisław Kordek³  Andrzej Roszkiewicz^1,16  Przemysław Nowacki⁹  Alicja Markowska-Wojciechowska⁶  Edmund Prudlak^1,11  Teresa Wierzba-Bobrowicz^1,12  Tomasz Trojanowski^1,15  Grażyna Bierzyńska-Macyszyn^1,13  Lech Zimnoch^1,18  Andrzej Bernaczyk⁴  Anna Jakubowska⁵  Tadeusz Dębniak⁵  Bohdan Górski⁵  Janusz Szymaś¹  Marianna Soroka⁸  Joanna Matyjasik⁵  Cezary Cybulski⁵ 

[1] Department of Clinical Pathology, Poznań University of Medical Sciences, Poland;Department of Pathomorphology, Military Clinical Hospital, Bydgoszcz, Poland;Department of Pathology, Copernicus Memorial Hospital, Łódź, Poland;Department of Pathology, Regional Clinical Hospital, Częstochowa, Poland;International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland;Department Otolaryngology, Medical Academy, Wrocław, Poland;Department of Pathomorphology, Children's Memorial Health Institute, Warsaw, Poland;Department of Biology, University of Szczecin, Poland;Department of Neurology, Pomeranian Medical University, Szczecin, Poland;Department of Neuropathology, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland;Department of Pathology, Medical Academy, Wrocław, Poland;Department of Neuropathology, Institute of Psychiatry and Neurology, Warsaw, Poland;Department of Pathology, Medical Academy, Katowice, Poland;Department of Pathology, Military Clinical Hospital, Military Medical Academy, Warsaw, Poland;Department of Neurosurgery, University Medical School, Lublin, Poland;Department of Pathology, Medical University of Gdańsk, Poland;Department of Pathology, Military Clinical Hospital, Łódź, Poland;Department of Pathology, Medical University, Białystok, Poland

关键词: VHL gene;    germline mutations;    hemangioblastoma;    VHL disease;   

Others  :  825542
DOI  :  10.1186/1897-4287-2-2-93

 received in 2004-01-15, accepted in 2004-03-15,  发布年份 2004

【 摘 要 】

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.

   

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