The FH gene provides instructions for making an enzyme called fumarase (also known as fumarate hydratase). Fumarase participates in an important series of reactions known as the citric acid cycle, which allows cells to use oxygen and generate energy. Specifically, fumarase helps convert a molecule called fumarate to a molecule called malate.
FH gene mutations interfere with the enzyme's role in the citric acid cycle, resulting in a buildup of fumarate. Researchers believe that the excess fumarate may interfere with the regulation of oxygen levels in the cell. Chronic oxygen deficiency in cells with two mutated copies of the FH gene may encourage tumor formation and result in the tendency to develop leiomyomas and renal cell cancer.
|Hereditary leiomyomatosis and renal cell cancer (HLRCC)
||50 mutations of the FH gene have been identified with this disorder. Patient may develop cutaneous leiomyomas that increase in size and number over time Most women with HLRCC also develop numerous uterine fibroids that are very large. 10 percent to 16 percent of people with HLRCC develop renal cell cancer.
Methodology: Sequencing of entire coding region
Purpose: Confirmation of Clinical Diagnosis
Test Requisition: Sequencing Requisition
CPT Code: 81405 Cost: $1075.00
Turn-around-time: 5-6 weeks
1. Tolvanen, J.; Uimari, O.; Ryynanen, M.; Aaltonen, L. A.; Vahteristo, P. (2012). "Strong family history of uterine leiomyomatosis warrants fumarate hydratase mutation screening". Human Reproduction 27 (6): 1865–9.
2. Toro, J.; Nickerson, M.; Wei, M.; Warren, M.; Glenn, G.; Turner, M.; Stewart, L.; Duray, P.; Tourre, O.; Sharma, N.; Choyke, P.; Stratton, P.; Merino, M.; Walther, M. M.; Linehan, W. M.; Schmidt, L. S.; Zbar, B. (2003). "Mutations in the Fumarate Hydratase Gene Cause Hereditary Leiomyomatosis and Renal Cell Cancer in Families in North America". The American Journal of Human Genetics 73 (1): 95–106.
3. King A, Selak MA, Gottlieb E. (2006) “Succinate dehydrogenase and fumarate hydratase: linking mitochondrial dysfunction and cancer”. Oncogene.7;25(34):4675-82. Review.
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