Is VHL associated with pheochromocytoma?

Patients with von Hippel-Lindau (VHL) syndrome have a 25–30% chance of developing pheochromocytoma. Although practice guidelines recommend biochemical and radiological screening every 1–2 years for pheochromocytoma in patients with VHL, there are limited data on the optimal age and frequency for screening.

What is Von Hippel-Lindau disease?

Von Hippel-Lindau syndrome (VHL) is a hereditary condition associated with tumors arising in multiple organs. VHL-related tumors include hemangioblastomas, which are blood vessel tumors of the brain, spinal cord, and retina.

Is VHL considered cancer?

A rare, inherited disorder that causes tumors and cysts to grow in certain parts of the body, including the brain, spinal cord, eyes, inner ear, adrenal glands, pancreas, kidney, and reproductive tract. The tumors are usually benign (not cancer), but some may be malignant (cancer).

Where is VHL located?

Germline mutations in the VHL protein (pVHL) is at the root of VHL. The gene is located on the short arm of chromosome 3p. VHL is caused by an inactivation of pVHL and subsequent overproduction of vascular endothelial growth factor (VEGF), platelet-derived growth factor (PDGF), and transforming growth factor (TGF)-α.

What chromosome is VHL on?

VHL disease is an autosomal dominant disorder resulting from a deletion or mutation in the VHL gene located on the short arm of chromosome 3. Each child of a person with VHL is at 50% risk of inheriting the altered copy of the gene.

What does the VHL gene do?

The VHL gene provides instructions for making a protein that functions as part of a complex (a group of proteins that work together) called the VCB-CUL2 complex. This complex targets other proteins to be broken down (degraded) by the cell when they are no longer needed.

What diseases cause benign tumors?

Neurofibromatosis is a rare inherited disorder that results in benign tumors of the nerves and other parts of the body. Symptoms of this disease range from being virtually unnoticeable to causing neurologic problems or bone defects that affect the skull and spine.

How is VHL treated?

Treatment of most cases of VHL usually involves surgery to remove the tumors before they become harmful. Certain tumors can be treated with focused high-dose irradiation. Individuals with VHL need careful monitoring by a physician and/or medical team familiar with the disorder.

What disease causes tumors all over the body?

Neurofibromatosis (NF), a type of phakomatosis or syndrome with neurological and cutaneous manifestations, is a rare genetic disorder that typically causes benign tumors of the nerves and growths in other parts of the body, including the skin.

What are the symptoms of a cancerous cyst?

Symptoms can range from mild to severe. They can include abdominal bloating and pressure, painful intercourse, and frequent urination. Some women experience menstrual irregularities, unusual hair growth, or fevers. Like noncancerous ovarian cysts, cancerous tumors sometimes cause no or only minor symptoms at first.

What is the function of the von Hippel-Lindau protein?

The VHL protein likely plays a role in other cellular functions, including the regulation of other genes and control of cell division. Based on this function, the VHL protein is classified as a tumor suppressor, which means it prevents cells from growing and dividing too rapidly or in an uncontrolled way.

How common is Von Hippel-Lindau?

The incidence of von Hippel-Lindau syndrome is estimated to be 1 in 36,000 individuals.

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