Hereditary Leiomyomatosis Renal Cell Cancer - Study of the Genetic Cause and the Predisposition to Renal Cancer

What this study involves

The registry says this study is recruiting. Individual locations may have different availability.

Study type

Observational

Phase

Not applicable / not listed

Age range

2 years - Not specified

Sex eligible

All sexes

Healthy volunteers

Accepted

Participants

1350 Estimated

These are starting points, not an eligibility decision. The research team must review the full requirements.

About the research

This study will investigate what causes hereditary leiomyomatosis renal (kidney) cell cancer, or HLRCC, and how the disease is related to the development of kidney tumors. Leiomyomas are benign (non-cancerous) tumors arising from smooth muscle. HLRCC can cause various health problems. Some people develop red bumps on their skin that can be painful at times. Some women with HLRCC can develop leiomyomas of the uterus. In some families, people with HLRCC develop kidney tumors. This study will try to determine:

• What gene changes (mutations) cause HLRCC
• What kind of kidney tumors develop in HLRCC and how they grow
• What the chance is that a person with HLRCC will develop a kidney tumor

People with known or suspected HLRCC (and their family members of any age) may be eligible for this study. This includes people in families in which one or more members has skin leiomyoma and kidney cancer; skin leiomyoma and uterine leiomyoma; multiple skin leiomyomas; kidney cancer and uterine leiomyomas, or kidney cancer consistent with HLRCC, including, but not limited to, collecting duct or papillary, type II. Candidates will be screened with a physical examination, family history, and, for affected family members, a review of medical records, including pathology slides and computed tomography (CT) or magnetic resonance imaging (MRI) scans.

Participants will undergo tests and procedures that may include the following:

• Review of medical records, x-rays, and tissue slides
• Physical examination and family history
• Skin examination
• Gynecological examination for women
• Interviews with a cancer doctor, cancer nurses, kidney surgeon, and genetic counselor
• Blood tests for:

1. Genetic research to identify the gene responsible for HLRCC
2. Evaluation of liver, kidney, heart, pancreas, and thyroid function
3. Complete blood count and clotting profile
4. Pregnancy test for pre-menopausal women
5. PSA test for prostate cancer in men over age 40
* CT or MRI scans (for participants 15 years of age and older only)
* Skin biopsy (surgical removal of a small sample of skin tissue)
* Cheek swab or mouth rinse to collect cells for genetic analysis
* Medical photographs of lesions
* Questionnaire

When the tests are completed, participants will discuss the results with a doctor and possibly a genetic nurse or genetic counselor. The genetic findings will not be revealed to participants because their meaning and implications may not yet be understood. Participants may be asked to return to NIH from every 3 months to every 3 years, depending on their condition, for follow-up examinations and tests.

Who may be able to participate?

The list below is the sponsor’s full registry wording. It can include conditions, prior treatment, test results and other requirements. A match in search does not mean you qualify.

• INCLUSION CRITERIA:
• Individuals that meet one or more of the following criteria:

• Suspected or known to have phenotype or genotype suggestive of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome (HLRCC), such as:

• Cutaneous leiomyoma and kidney cancer; or
• Cutaneous leiomyoma and uterine leiomyoma; or
• Multiple cutaneous leiomyoma; or
• Kidney cancer and uterine leiomyomata

OR

--Renal tumor histology consistent with HLRCC including, but not limited to: Collecting Duct and/or Papillary, Type II

OR

--Are a relative (related by blood) of an individual with a confirmed or suspected diagnosis of HLRCC.

• Participants must be \>= 2 years of age.
• All participants and parents/guardians, for children younger than 18 years of age, must sign an informed consent document indicating their understanding of the investigational nature and the risks of this study before any protocol related studies are performed.

EXCLUSION CRITERIA:

None

Study population

An individual (including patient) from a family in which one or more family member have: cutaneous leiomyoma and kidney cancer, cutaneous leiomyoma and uterine leiomyoma, multiple cutaneous leiomyoma, kidney cancer and uterine leiomyomata, renal tumor histology consistent with HLRCC including, but not limited to: Collecting Duct and/or Papillary, Type II.

Treatment, groups and participation

The registry may describe treatments and study duration without a complete visit calendar. Ask the study team for the exact schedule, procedures, risks, costs and alternatives. Keep your usual care plan unless your treating clinician tells you otherwise.

Assignment

Not reported

Masking

Not reported

What researchers are measuring

Outcome measures describe what is being studied. They are not proof that a treatment works.

Primary measures

Research locations (1)

The overall study status and a local site’s status can differ. Confirm that location’s availability before traveling.

1 locations

Study team and timeline

Lead sponsor

National Cancer Institute (NCI)

Study start

Feb 24, 2003 Actual

Primary completion

Not reported

Study completion

Not reported

First posted

Dec 18, 2002 Estimated

Last updated

Nov 10, 2026 Actual

Official study contacts