Türk Nöroşirürji Dergisi 2009 , Vol 19 , Num 1
Molecular Genetics of von Hippel-Lindau Disease
Fatih BAYRAKLI1, Tufan ÇANKAYA2, Yaşar BAYRİ3, İlter GÜNEY4
1 Acıbadem Maslak Hastanesi, Nöroşirürji Bölümü, İstanbul
2 İstanbul Cerrahi Hastanesi, Genetik Bölümü, İstanbul
3 Ondokuz Mayıs Üniversitesi Tıp Fakültesi, Nöroşirürji Bilim Dalı, Samsun
4 Marmara Üniversitesi Tıp Fakültesi, Tıbbi Genetik Bilim Dalı, İstanbul
VHL disease can be found in all ethnic groups. Both sexes are equally affected. VHL disease can be grouped together with the phakomatoses. Although the pathologic entities that are seen in VHL disease are rather well characterized, there is no pathognomonic lesion. Diagnosis relies on defined clinical criteria. the prevalence of disease ranges from 1:30,000 to 1:50,000 individuals.

von Hippel-Lindau (VHL) disease is an inherited multisystem familial cancer syndrome caused by mutations of the VHL gene on chromosome 3p25. A wide variety of neoplastic processes are known to be associated with VHL disease. The consequences of the VHL mutations and the pathway for tumor development continue to be elucidated. This paper will detail the genetic mechanisms that lead to the predisposition for neoplasia. Anahtar Kelimeler : von Hippel-Lindau disease, VHL, Genetics