Serum Markers /Angiogenesis in von Hippel-Lindau Disease

  • Tomlinson, Gail (PI)

Project: Research project

Project Details

Description

DESCRIPTION (provided by applicant): 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.
StatusFinished
Effective start/end date5/1/044/30/06

Funding

  • National Institutes of Health: $78,000.00
  • National Institutes of Health: $78,000.00

ASJC

  • Medicine(all)

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