? Von HippeI-Lindau disease (VHL) is a rare autosomal dominant tumor predisposition syndrome characterized by multi-system benign and malignant tumors characterized by angiogenic proliferation. Patients present at an average age of 26 years; 25-43 percent present with retinal hemangioblastoma, while 35-39 percent present with cerebellar hemangioblastoma. However, patients may be symptomatic during the first decade of life; therefore, future attempts at pre-clinical intervention will likely target both pediatric and adult populations. ? ? In this application, we take the initial steps to develop pre-clinical markers of neoptasia. We will establish a serum bank and a registry of families with Von Hippel-Lindau Disease. We hypothesize that serum levels of VEGF and its soluble receptor sVEGFR1 may be significantly different in patients genetically determined to have VHL than in mutation-negative controls. We will analyze serum from mutation-positive and age matched mutation negative individuals for levels of VEGF and sVEGF-R1. ? ? We will determine the correlation between severity of VHL disease and the serum levels of VEGF and sVEGF-R1. We will analyze serum levels in terms of mutation sub-type. As additional markers of angiogenesis become known, we will be strategically placed to perform analyses on our serum samples banked from these high-risk individuals. ? ? The establishment of a VHL registry in North Texas will also place us in an excellent position to develop clinical protocols aimed towards early detection of lesions in VHL patients. ? ?

Agency
National Institute of Health (NIH)
Institute
National Cancer Institute (NCI)
Type
Small Research Grants (R03)
Project #
1R03CA107884-01
Application #
6784375
Study Section
Special Emphasis Panel (ZCA1-SRRB-Q (J1))
Program Officer
Wagner, Paul D
Project Start
2004-05-01
Project End
2006-04-30
Budget Start
2004-05-01
Budget End
2005-04-30
Support Year
1
Fiscal Year
2004
Total Cost
$78,000
Indirect Cost
Name
University of Texas Sw Medical Center Dallas
Department
Pediatrics
Type
Schools of Medicine
DUNS #
800771545
City
Dallas
State
TX
Country
United States
Zip Code
75390