Roeliene Kruizinga and colleagues describe a study to determine in VHL-related and sporadic hemangioblastomas CXCR4, CXCL12, and VEGFA protein expression and correlate this to hemangioblastoma size and expression in normal surrounding tissue. They did not find relation between preoperative tumor size and CXCR4 or CXCL12 expression and, compared to normal surrounding tissue CXCR4, CXCL12, and VEGFA there were overexpressed in hemangioblastomas. Most interestingly, they found that sporadic hemangioblastomas overexpress CXCR4 compared to VHL-related hemangioblastoma.
Kruizinga, Roeliene C. et al. Familial Cancer.
"Alamut is the best tool I have used for the annotation of DNA variants. It has a great user interface, combines data from multiple sources and allows for ease of variant interpretation by clinical geneticists."
JORDAN LERNER-ELLIS, Ph.D.
Mt. Sinai Hospital, Toronto