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