Mutations in the vhl gene lead to a lack of regulation of cell growth and survival, allowing cells to grow and divide uncontrollably. Clinical hallmarks of vhl disease include the development of retinal and central nervous system cns hemangioblastomas bl. Tumors may be either noncancerous or cancerous and most frequently appear during young adulthood. It is characterized by visceral cysts and benign tumors with potential for subsequent malignant transformation. It can affect several different parts of the body and cause several types of problems. Increased renal cancer clear cell renal cell carcinoma. Tumors in vhl include hemangioblastomas, which are blood vessel tumors of the brain, spinal cord, and eye. The most common causes of death in vhl disease patients are renal cell carcinoma and neurologic complications from cerebellar hemangioblastomas. Pmc free article moore at, maher er, rosen p, gregor z, bird ac. The tumors in vhl include hemangioblastomas, which are blood.
The characteristic neurological tumor is a hemangioblastoma, which may. Preconception decision to become pregnant pregnancy complications related to hemangioblastomas or pheochromocytomas intensified surveillance for cerebellar hemangioblastoma and pheochromocytoma during preconception and pregnancy. Pheochromocytoma, pancreatic neuroendocrine tumours and papillary cystadenoma of the epididymis. Read more about symptoms, diagnosis, treatment, complications, causes and prognosis. Hemangioblastomas that develop in the brain and spinal cord can cause headaches, vomiting, weakness, and a loss of muscle coordination ataxia. The identification of a diseasecausing vhl germline mutation subsequently allows family. A germline mutation in the vonhippel lindau vhl gene predisposes carriers to development of abundantly vascularised. Less commonly, endolymphatic sac tumors, papillary cystadenomas of the epididymis or broad ligament, or neuroendocrine tumors of the pancreas. The vhl alliance is a major resource for vhl diagnosis, screening and treatment. Multiple renal cysts are very common and the lifetime risk of rcc is very high 70%.
Complex segregation analysis with pointers was performed in 38 kindreds with two or more affected members. A 25 year old male came to ceitc outdoor clinic on 24th jan, 2017 with the complain of painless loss of vision in right eye for 2 months. Slowgrowing hemgioblastomas benign tumors with many blood vessels may develop in the brain, spinal cord, the retinas of the eyes, and near the inner ear. The spectrum of clinical manifestations of the disease is broad and includes retinal and central nervous system hemangioblastomas, endolymphatic sac tumors, renal cysts and. Compliance with periodic surveillance for vonhippel lindau disease.
Associate professor of medicine, harvard medical school, boston, usa 11. A germline mutation of this gene is the basis of familial inheritance of vhl syndrome. Dominant inheritance with almost complete penetrance. Although vhl disease can have serious complications, if these are detected early they can usually be treated successfully. Vhl disease effects 1 in 36,000 people 10,000 cases in the u. People with vhl also have an increased risk of developing clear cell renal cell. Listing a study does not mean it has been evaluated by the u. The use of molecular genetic testing for determining the genetic status of presumably atrisk relatives when a family enfefmedad with a clinical diagnosis of vhl syndrome is not available for testing is not straightforward. It is named after the two doctors who described it. But some tumors, such as those in the kidney and pancreas, can become cancerous.
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