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