Von Hippel–Lindau
From Kidney Cancer Resource
Contents |
Overview
Von Hippel-Lindau disease (VHL) is a rare inherited genetic condition involving the abnormal growth of tumors in parts of the body which are particularly rich in blood supply.
Features
Features of VHL are:
- angiomatosis - little knots of capillaries in the retina and various organs.
- hemangioblastomas - tumors of the central nervous system (CNS, especially the cerebellum, brain stem, and spinal cord).
- pheochromocytoma - tumors of the adrenal medulla that often produce catecholamines
- Renal Cell Carcinoma - in some forms
- pancreas - Cysts and Tumours of the Pancreas, which may be neuroendocrine Tumours
Untreated, VHL may result in blindness and permanent brain damage; death is usually caused by complications of malignant tumors in the brain or kidney, cardiovascular disease secondary to pheochromocytoma. With early detection and appropriate treatment, there is more hope today for people with VHL than ever before.
Types
There are various subtypes:
- Type 1 (angiomatosis without pheochromocytoma)
- Type 2 (angiomatosis with pheochromocytoma)
- Type 2A (with Renal Cell Carcinoma)
- Type 2B (without Renal Cell Carcinoma)
- Type 2C (only pheochromocytoma and no angiomatosis or Renal Cell Carcinoma)
Articles
Cancer Cell 08-Jul-08
A Molecule Targeting VHL-Deficient Renal Cell Carcinoma that Induces Autophagy Turcotte S, Chan DA, Sutphin PD, Hay MP, Denny WA, Giaccia AJ Department of Radiation Oncology, Stanford University School of Medicine, Stanford, CA 94305, USA.
Renal cell carcinomas (RCCs) are refractory to standard therapies. The von Hippel-Lindau (VHL) tumor suppressor gene is inactivated in 75% of RCCs. By screening for small molecules selectively targeting VHL-deficient RCC cells, we identified STF-62247. STF-62247 induces cytotoxicity and reduces tumor growth of VHL-deficient RCC cells compared to genetically matched cells with wild-type VHL.
STF-62247-stimulated toxicity occurs in a HIF-independent manner through autophagy. Reduction of protein levels of essential autophagy pathway components reduces sensitivity of VHL-deficient cells to STF-62247. Using a yeast deletion pool, we show that loss of proteins involved in Golgi trafficking increases killing by STF-62247. Thus, we have found a small molecule that selectively induces cell death in VHL-deficient cells, representing a paradigm shift for targeted therapy.
Original article Click Here
MedicalNewsToday (KC) 22-Jun-08
- Renal Tumors Undergoing Active Surveillance Demonstrate Gompertzian Growth Kinetics
References
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