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VHL Gene Deletion and Enhanced VEGF Gene Expression Detected in the Stromal Cells of Retinal Angioma
Chi-Chao Chan, MD;
Alexander O. Vortmeyer, MD;
Emily Y. Chew, MD;
W. Richard Green, MD;
Dawn M. Matteson, MS;
De F. Shen, PhD;
W. Marston Linehan, MD;
Irina A. Lubensky, MD;
Zhengping Zhuang, MD, PhD
Arch Ophthalmol. 1999;117:625-630.
Objectives Retinal angioma frequently occurs in von Hippel-Lindau (VHL) disease. However, VHL gene alterations have not been documented in retinal angiomas.
Methods Using tissue microdissection and polymerase chain reaction amplification, we have analyzed 7 retinal angiomas associated with VHL disease for loss of heterozygosity of the VHL gene. In addition, vascular endothelial growth factor expression was evaluated in these tumors by immunohistochemistry and in situ hybridization.
Results All 6 informative retinal angiomas showed loss of heterozygosity of the VHL gene. Loss of heterozygosity was detected in vacuolated "stromal" cells, but not in vascular cells or reactive glial tissue. Vascular endothelial growth factor protein and messenger RNA were also present in vacuolated "stromal" cells.
Conclusions These findings suggest that vacuolated "stromal" cells represent the true neoplastic component in retinal angioma. These cells express vascular endothelial growth factor and therefore may be responsible for abundant neovascularization of retinal angioma.
From the Laboratory of Immunology and Clinical Trials Branch, National Eye Institute (Drs Chan, Chew, and Shen and Ms Matteson); Laboratory of Pathology (Drs Vortmeyer, Lubensky, and Zhuang) and Urologic Oncology Branch (Dr Linehan), National Cancer Institute; National Institutes of Health, Bethesda, Md; and the Eye Pathology Laboratory, Wilmer Ophthalmological Institute, Johns Hopkins Medical Institution, Baltimore, Md (Dr Green).
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