Radiation Oncology/Cancer Syndromes/VHL

Von Hippel-Lindau Disease

• wikipedia entry
• Affected organs may include kidneys, retinas, brain, spinal cord, adrenals, pancreas, inner ear, or the scrotum; hemangioblastoma of the CNS, retinal angiomas, endolymphatic sac tumors, clear cell renal carcinoma, neuroendocrine tumors of the pancreas, pheochromocytoma
• Tumor suppressor gene: VHL (3p26)
• The VHL protein (pVHL) is involved in the regulation of a protein known as hypoxia inducible factor 1α (HIF1α)
• In normal physiological conditions, pVHL recognizes and binds to HIF1α only when oxygen is present due to the post translational hydroxylation of 2 proline residues within the HIF1α protein
• In low oxygen conditions or in cases of VHL disease where the VHL gene is mutated, pVHL does not bind to HIF1α
• Please also see the hypoxia chapter