Pathologic frozen and paraffin-embedded material from patients with von Hippel-Lindau (VHL) disease referred to the Clinical Center for treament is reviewed and correlated with clinical features of disease. Tumor and normal tissue is microdissected from routine histological glass slides and the DNA is extracted and analyzed for loss of heterozygosity (LOH) on chromosome 3p25.5 and mutations of the VHL gene. The data will be used to determine the role of the VHL gene in the pathogenesis and of multiple tumors arising in this patient population throughout their lifetime. Sporadic tumors of the kidneys, pancreas and central nervous system are also being investigated for 3p LOH and mutations of the VHL gene. The information will be used to establish the role of the VHL gene in sporadic tumorigenesis.
