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

National Cancer Institute (NCI) · NCT00050752

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Opens the official ClinicalTrials.gov record, with the study team’s contacts. Bored Studies doesn’t enroll anyone.

Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Ages 2+ · All sexes
Healthy volunteers
Accepted
Study type
Observational
Target enrollment
1350
US sites recruiting
1
Study start
February 24, 2003
Record last updated
October 26, 2026

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the study is about

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:
  • Genetic research to identify the gene responsible for HLRCC
  • Evaluation of liver, kidney, heart, pancreas, and thyroid function
  • Complete blood count and clotting profile
  • Pregnancy test for pre-menopausal women
  • 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.

...

Conditions: Renal Tumor Histology; Cutaneous Leiomyoma; Kidney Cancer

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full criteria
  • 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

Recruiting US locations

  • National Institutes of Health Clinical Center

    Bethesda, MD 20892

    Site contact: For more information at the NIH Clinical Center contact National Cancer Institute Referral Office · 888-624-1937

Study contacts (from the official record)

  • Deborah A Nielsen, R.N. · (240) 760-6247 · deborah.nielsen@nih.gov
  • W. Marston Linehan, M.D. · (240) 858-3700 · linehanm@mail.nih.gov
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Hereditary Leiomyomatosis Renal Cell Cancer - Study of the Genetic… (NCT00050752) | Bored Studies