HEREDITARY LEIOMYOMATOSIS & RENAL CELL CANCER (HLRCC)
Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is characterized by cutaneous leiomyomata, which is a benign tumor of smooth muscle origin, uterine leiomyomata (fibroids), and/or renal tumors. The cutaneous leiomyomata are located on the trunk, extremities, and sometimes on the face. These skin colored/brown nodules or papules appear at an average age of 25 years and increase in size and number with age. Females are affected with uterine leiomyomata and tend to have irregular or heavy menstruation and pelvic pain. A single aggressive kidney tumor occurs in up to one-third of families, at a median age of 44 years, and can cause hematuria and lower back pain. Approximately 50% of these renal tumors result in metastasis. Most renal tumors are papillary, but other kidney tumor types include tubulo-papillary renal cell carcinomas to collecting-duct renal cell carcinomas.
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. Excess fumarate interferes 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.
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 of the FH gene
Deletion/Duplication analysis is also available for this gene.
Purpose: Confirmation of Clinical Diagnosis
Detection Frequency: ~99%
Turn-Around-Time: 5 weeks
Specimen Requirements: 2-5 ml Blood- EDTA tube (Lavender Top)
For Buccal Swab or Saliva samples please contact the lab to obtain a collection kit.
OUHSC Genetics Laboratory 1122 NE 13th Street, Suite 1400, Oklahoma City, OK 73104
Phone (405)271-3589 Fax (405)271-7117 After hours phone (405)496-9514
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