Hereditary leiomyomatosis and renal cell cancer

What causes hereditary leiomyomatosis and renal cell cancer?

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 on 05-01-20

How is hereditary leiomyomatosis and renal cell cancer inherited?

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is inherited in an autosomal dominant pattern, which means that having one mutated copy of the gene in each cell is enough to cause symptoms of the condition. In some cases, an affected person inherits the mutated copy of the gene from an affected parent. Other cases result from new mutations in the gene and that occur for the first time in in the affected individual.

When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated gene. This is the case regardless of which parent has the condition.

Last updated on 05-01-20

What is the long-term outlook for individuals with hereditary leiomyomatosis and renal cell cancer?

Because the cutaneous leiomyomas are difficult to treat, many people choose not to undergo treatment for these. For some people, surgery to remove them can relieve pain. The uterine fibroids in women with HLRCC can cause severe symptoms. Many affected women have a hysterectomy (removal of the uterus) at a young age (at or before age 30) to relieve the symptoms. Approximately 10% to 16% of affected people develop renal cell cancer. Surgical removal of these cancers often require earlier and more extensive surgery than for other hereditary kidney cancers. The overall prognosis for an affected person with renal cell cancer depends on the stage of the disease at the time of diagnosis and the overall health of the individual. The survival rate is the highest if the tumor is in the early stages and has not spread outside the kidney.

Last updated on 05-01-20

How might hereditary leiomyomatosis and renal cell cancer be treated?

Skin growths (cutaneous leiomyomas) associated with hereditary leiomyomatosis and renal cell cancer (HLRCC) should be examined by a dermatologist. Treatment of these may include surgery to remove a painful growth; cryoablation and/or lasers; and/or medications such as calcium channel blockers, alpha blockers, nitroglycerin, antidepressants, and/or antiepileptic drugs (AEDs), which have been reported to reduce pain. Uterine fibroids should be evaluated by a gynecologist. These are typically treated in the same manner as those that occur in the general population. However, most women with HLRCC need medication and/or surgical removal of the fibroids (myomectomy) at a younger age. Medications may include gonadotropin-releasing hormone agonists (GnRHa), antihormonal drugs, and pain relievers. Hysterectomy should be performed only when necessary. Early detection of kidney tumors in HLRCC is important because they grow aggressively. Total nephrectomy may be strongly considered in individuals with a detectable renal mass.

Last updated on 05-01-20

In-Depth Information

Medscape Reference leiomyoma

Medscape Reference has a page on leiomyoma that includes some information on hereditary leiomyomatosis and renal cell cancer. You may need to register to view this medical reference page, but registration is free.

Last updated on 04-27-20

Name: National Kidney Foundation 30 East 33rd Street
New York, NY, 10016, United States
Phone: 212-889-2210 Toll Free: 800-622-9010 Fax : 212-689-9261 Email: Url:
Name: National Uterine Fibroids Foundation P.O. Box 9688
Colorado Springs, CO, 80932-0688 , United States
Phone: 719-633-3454 Toll Free: 800-874-7247 Email: Url:
Name: Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Family Alliance c/o VHL Family Alliance 1208 VFW Parkway, Suite 303
Boston, MA, 02132, United States
Phone: 617-277-5667 ext. 3 Toll Free: 800-767-4845 ext. 3 Email: Url:
Name: The Kidney Foundation of Canada 700-15 Gervais Drive Toronto Ontario M3C 1Y8
Phone: 416-445-0373 Toll Free: 800-387-4474 Fax : 416-445-7440 Email: Url:
Name: American Kidney Fund, Inc. 6110 Executive Boulevard Suite 1010
Rockville, MD, 20852, United States
Phone: 301-881-3052 Toll Free: 866-300-2900 Email: Url:

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