Hereditary leiomyomatosis and renal cell cancer
Other Names for this Disease
- Familial leiomyomatosis
- Familial leiomyomatosis and renal cell cancer
- Familial leiomyomatosis cutis et uteri
- Familial leiomyomatosis with renal carcinoma
- Familial multiple cutaneous leiomyomas
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Hereditary leiomyomatosis and renal cell cancer (HLRCC) is caused by changes (mutations) in the FH gene. This gene gives the body instructions for making an enzyme called fumarase which is needed for a series of reactions that lets cells use oxygen and energy (the citric acid cycle, or Krebs cycle). People with HLRCC are born with one mutated copy of the FH gene in each cell. The second copy of the gene in some cells can mutate later on from factors in the environment, such as radiation from the sun or an error during cell division. A mutation can interfere with fumarase's role in the citric acid cycle, which may affect the regulation of oxygen levels in cells. Long-term oxygen deficiency in cells with two mutated copies of the FH gene may contribute to tumors growth and the tendency to develop leiomyomas and/or renal cell cancer.
Last updated: 1/9/2014
- Hereditary leiomyomatosis and renal cell cancer. Genetics Home Reference. April 2008; http://ghr.nlm.nih.gov/condition=hereditaryleiomyomatosisandrenalcellcancer. Accessed 6/30/2009.