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

• Main Authors: Cybulski Cezary, Matyjasik Joanna, Soroka Marianna, Szymaś Janusz, Górski Bohdan, Dębniak Tadeusz, Jakubowska Anna, Bernaczyk Andrzej, Zimnoch Lech, Bierzyńska-Macyszyn Grażyna, 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
• Format: Article
• Language: English
• Published: BMC 2004-03-01
• Series: Hereditary Cancer in Clinical Practice
• Subjects: VHL disease; hemangioblastoma; germline mutations; VHL gene
• Online Access: http://www.hccpjournal.com/content/2/2/93

<p>Abstract</p> <p>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.</p>