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Hereditary Leiomyomatosis and Renal Cell Cancer

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What is hereditary leiomyomatosis and renal cell cancer?

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary condition associated with multiple leiomyomas (fibroid skin tumors), uterine fibroids (non-cancerous growths in a woman's uterus), and type 2 papillary renal (kidney) cancer. A person with HLRCC can have a few skin tumors or many skin tumors. These skin tumors generally develop in adulthood and occur on the chest, back, arms, and legs; the tumors can be painful, but they are not cancerous. Women with HLRCC can develop uterine fibroids as young as their teens or early 20s.

What causes HLRCC?

HLRCC is a genetic condition. This means that the risk of cancer and other features of HLRCC can be passed from generation to generation in a family. A specific gene called the fumarate hydratase (FH) gene is believed to cause most cases of HLRCC. Research is ongoing to learn more about this condition.

How is HLRCC inherited?

Normally, every cell has two copies of each gene: one inherited from the mother and one inherited from the father. HLRCC follows an autosomal dominant inheritance pattern, in which a mutation (alteration) happens in only one copy of the gene. This means that a parent with a gene mutation may pass along a copy of their normal gene or a copy of the gene with the mutation. Therefore, a child who has a parent with a mutation has a 50% chance of inheriting that mutation. A brother, sister, or parent of a person who has a mutation also has a 50% chance of having the same mutation.

How common is HLRCC?

HLRCC is considered to be rare. The number of people and families who have this condition is unknown.

How is HLRCC diagnosed?

HLRCC is suspected when a person has a history of multiple leiomyomas. A family history of fibroid tumors and type 2 papillary renal cancer also raises the possibility of HLRCC. Genetic testing to look for mutations in theFHgene is available for people suspected of having HLRCC.

What are the estimated cancer risks associated with HLRCC?

HLRCC is associated with an increased risk of type 2 papillary renal cell carcinoma. For people with HLRCC, the estimated risk for this type of kidney cancer is about 15%.

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