PharmaTutor (March- 2014)
ISSN: 2347 - 7881
Received On: 15/01/2014; Accepted On: 22/01/2014; Published On: 05/03/2014
Author: Tapan Behl*, Ishneet Kaur, Puneet Sudan, Monika Sharma, Dr. Heena Goel
Assistant Professor, Department of Pharmacology,
Doaba Group of Colleges, Kharar, Mohali, Punjab, India
tapanbehl31@gmail.com
ABSTRACT:
Von Hippel-Lindau (VHL) syndrome is a rare genetic neoplastic disorder, arising from germline mutations in the VHL gene, characterized by the development of visceral cysts, specific benign and malignant tumors in multiple organ systems that have subsequent potential for spiteful change. It is caused by point mutations or deletions in a tumor suppressor gene. A tumor suppressor gene is the one which keeps cells from growing and dividing too rapidly in an uncontrolled way. Mutations in this gene prevent production of the VHL protein or lead to the production of an abnormal version of the protein. An altered or missing VHL protein cannot effectively regulate cell survival and division. As a result, cells grow and divide uncontrollably to form tumors and cysts that are characteristic of Von Hippel-Lindau syndrome. Although there is great variation in the clinical presentation, those who have a mutated gene are at greatly increased risk of developing spinal hemangioblastoma, renal cell carcinoma (RCC), retinal hemangioblastoma, cerebellar hemangioblastoma, pheochromocytoma, pancreatic and renal cysts, endolymphatic sac tumors, hemangiomas of the adrenals, liver and lungs, and papillary cystadenoma of the epididymis or broad ligament. The age at which the tumors present ranges from early childhood to the seventh decade of life. Early diagnosis, screening of family members and lifelong surveillance of VHL patients is recommended.
How to cite this article: T Behl, I Kaur, P Sudan, M Sharma, H Goel, Von Hippel-Lindau (VHL) Syndrome: A Critical Insight, PharmaTutor, 2014, 2(3), 114-118
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