Abstract | PURPOSE: DESIGN: Interventional case series with immunohistological and molecular pathological analyses. PARTICIPANTS: Immunohistochemistry and molecular pathology of the surgically excised retinal lesions were performed. INTERVENTION: Large retinal hemangioblastomas (1-3 disc diameters) and vasoproliferative tumors were resected surgically after laser photocoagulation in 4 patients. The excised tissues were snap frozen and evaluated by histology. Molecular pathology was performed for the VHL gene, and immunohistochemistry and molecular detection (reverse transcription polymerase chain reaction) were carried out for VEGF, CXCR4, and CXCL12. MAIN OUTCOME MEASURES: Evaluation of clinical presentations and molecular pathology of the excised retinal lesions. RESULTS: Large retinal hemangioblastomas were resected successfully from the 3 VHL cases. Postoperatively, all patients were stable. Molecular analyses disclosed the loss of heterozygosity at the VHL allele locus in the VHL retinal hemangioblastomas but not in the vasoproliferative tumor. High levels of transcript and protein were found for VEGF and CXCR4, whereas low levels of CXCL12 mRNA were expressed in the retinal hemangioblastomas associated with VHL disease. In contrast, very low levels of VEGF and CXCR4 mRNA were detected in the vasoproliferative tumor. Furthermore, increased expression of VEGF and CXCR4 was detected in more active hemangioblastomas. CONCLUSIONS:
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Authors | Xiaoling Liang, Defen Shen, Yongsheng Huang, Chunyue Yin, Christine M Bojanowski, Zhengping Zhuang, Chi-Chao Chan |
Journal | Ophthalmology
(Ophthalmology)
Vol. 114
Issue 1
Pg. 147-56
(Jan 2007)
ISSN: 1549-4713 [Electronic] United States |
PMID | 17070589
(Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Intramural, Research Support, Non-U.S. Gov't)
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Chemical References |
- CXCL12 protein, human
- Chemokine CXCL12
- Chemokines, CXC
- RNA, Messenger
- Receptors, CXCR4
- VEGFA protein, human
- Vascular Endothelial Growth Factor A
- Von Hippel-Lindau Tumor Suppressor Protein
- VHL protein, human
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Topics |
- Adolescent
- Adult
- Chemokine CXCL12
- Chemokines, CXC
(genetics, metabolism)
- Female
- Gene Expression Regulation, Neoplastic
- Hemangioblastoma
(genetics, pathology, surgery)
- Humans
- Immunoenzyme Techniques
- Male
- Molecular Biology
- RNA, Messenger
(metabolism)
- Receptors, CXCR4
(genetics, metabolism)
- Retinal Neoplasms
(genetics, pathology, surgery)
- Reverse Transcriptase Polymerase Chain Reaction
- Vascular Endothelial Growth Factor A
(genetics, metabolism)
- Von Hippel-Lindau Tumor Suppressor Protein
(genetics)
- von Hippel-Lindau Disease
(genetics, pathology, surgery)
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