The occurrence of cerebellar hemangioblastoma in numerous first degree relatives with von Hippel-Lindau disease.
Von Hippel-Lindau disease is an autosomal dominant disorder caused by a mutation of VHL gene. The incidence of the disease is one in 36,000 and its clinical manifestation is a familial occurrence of hemangioblastoma of the central nervous system and retina, renal cell cancer and pheochromocytoma. Cerebellar hemangioblastoma is the most frequent or sometimes the only abnormality observed in this syndrome. We present a family with von Hippel-Lindau disease in which four first degree relatives had a cerebellar hemangioblastoma. This neoplasm caused the death of two brothers aged 27 and 24 years old, respectively and their mother aged 62. The third son of this family was affected ten years ago, at the age of 30. The healthy family members are counselled in Oncological Genetic Outpatient Unit in Gdańsk.
Wysocka
B
B
Department of Biology and Genetics, Medical University, Gdańsk.
Wełnicka-Jaśkiewicz
M
M
Matuszewska
K
K
Słoniewski
P
P
Jassem
J
J
Izycka-Swieszewska
E
E
Borowska-Lehman
J
J
Limon
J
J
D000328:Adult; D000368:Aged; D002528:Cerebellar Neoplasms / Q000150:complications / Q000235:genetics* / Q000473:pathology; D005260:Female; D018325:Hemangioblastoma / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D006623:von Hippel-Lindau Disease / Q000150:complications*