Mutations in the von hippel-lindau tumour suppressor gene in central nervous system hemangioblastomas.
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.
Cybulski
Cezary
C
International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland. cezarycy@sci.pam.szczecin.pl.
Matyjasik
Joanna
J
Soroka
Marianna
M
Szymaś
Janusz
J
Górski
Bohdan
B
Debniak
Tadeusz
T
Jakubowska
Anna
A
Bernaczyk
Andrzej
A
Zimnoch
Lech
L
Bierzyńska-Macyszyn
Grazyna
G
Trojanowski
Tomasz
T
Wierzba-Bobrowicz
Teresa
T
Prudlak
Edmund
E
Markowska-Wojciechowska
Alicja
A
Nowacki
Przemysław
P
Roszkiewicz
Andrzej
A
Kordek
Radzisław
R
Szylberg
Tadeusz
T
Matyja
Ewa
E
Zieliński
Krzysztof
K
Woźniewicz
Bogdan
B
Taraszewska
Anna
A
Kozłowski
Wojciech
W
Lubiński
Jan
J