Hereditary Leiomyomatosis Renal Cell Cancer - Study of the Genetic Cause and the Predisposition to Renal Cancer
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Purpose
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.
| Condition |
|---|
|
Renal Tumor Histology Cutaneous Leiomyomatosis Kidney Cancer |
| Study Type: | Observational |
| Study Design: | Time Perspective: Prospective |
| Official Title: | Hereditary Leiomyomatosis Renal Cell Cancer (HLRCC): Identification of the Disease Gene and Characterization of the Predisposition to Renal Cancer |
- Determine genotype/phenotype correlations. [ Time Frame: On-going ] [ Designated as safety issue: No ]
- Determine the incidence and characteristics of HLRCC associated fumarate hydratase gene mutations. [ Time Frame: On-going ] [ Designated as safety issue: No ]
- Define the types and characteristics (including patterns of growth) of renal cancer associated with HLRCC. [ Time Frame: On-going ] [ Designated as safety issue: No ]
- Define the risk of developing renal cancer, cutaneous leiomyoma and uterine leiomyoma in this hereditary cancer syndrome. [ Time Frame: On-going ] [ Designated as safety issue: No ]
- Determine if other genes cause HLRCC. [ Time Frame: On-going ] [ Designated as safety issue: No ]
| Estimated Enrollment: | 800 |
| Study Start Date: | December 2002 |
Background:
- Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is a rare autosomal dominantly inherited disorder which confers susceptibility to develop cutaneous and uterine leiomyomas and renal cell carcinoma.
- HLRCC is caused by mutations in the Krebs cycle enzyme, fumarate hydratase localized on chromosome 1q42.3-q43.
Objectives:
- Define the risk of developing renal cancer, cutaneous leiomyoma and uterine leiomyoma in this hereditary cancer syndrome
- Define the types and characteristics (including patterns of growth) of renal cancer associated with HLRCC.
- Determine the incidence and characteristics of HLRCC-associated fumarate hydratase gene mutations.
- Determine genotype/phenotype correlations.
- Determine if other genes caused HLRCC.
Eligibility:
-An individual from a family in which one or more family members 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.
Design:
- These rare families will be recruited to genetically confirm diagnosis, determine size and location of renal tumors, size at presentation, growth rate and metastatic potential of renal tumors.
- Genetic testing will be offered to gain appreciation of the effect of mutations on the relative activity of various germline and somatic mutations.
- We will determine if there is a relationship between mutation and disease phenotype.
Eligibility| Ages Eligible for Study: | 4 Years to 65 Years (Child, Adult) |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
- INCLUSION CRITERIA:
Patients with known or suspected Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome and their family members of any age will be recruited from the dermatology, urology, oncology, and genetics communities worldwide.
An individual 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 HRLRCC including, but not limited to: Collecting Duct and/or Papillary, Type II
Spouses enrolled primarily for linkage analysis
EXCLUSION CRITERIA:
Persons unable to give informed consent.
Contacts and LocationsPlease refer to this study by its ClinicalTrials.gov identifier: NCT00050752
| Contact: W. Marston Linehan, M.D. | (301) 496-6353 | wl3e@nih.gov |
| United States, Maryland | |
| National Institutes of Health Clinical Center, 9000 Rockville Pike | Recruiting |
| Bethesda, Maryland, United States, 20892 | |
| Contact: For more information at the NIH Clinical Center contact National Cancer Institute Referral Office (888) NCI-1937 | |
| Principal Investigator: | W. Marston Linehan, M.D. | National Cancer Institute (NCI) |
More Information
Additional Information:
Publications:
| Responsible Party: | National Cancer Institute (NCI) |
| ClinicalTrials.gov Identifier: | NCT00050752 History of Changes |
| Obsolete Identifiers: | NCT00055627 |
| Other Study ID Numbers: | 030066 03-C-0066 |
| Study First Received: | December 17, 2002 |
| Last Updated: | September 24, 2016 |
| Health Authority: | United States: Federal Government |
Keywords provided by National Institutes of Health Clinical Center (CC):
|
Renal Cancer Hereditary Leiomyomatosis Uterine Fibroid Cutaneous Leiomyoma |
Additional relevant MeSH terms:
|
Carcinoma, Renal Cell Kidney Neoplasms Disease Susceptibility Leiomyomatosis Adenocarcinoma Carcinoma Neoplasms, Glandular and Epithelial Neoplasms by Histologic Type Neoplasms Urologic Neoplasms |
Urogenital Neoplasms Neoplasms by Site Kidney Diseases Urologic Diseases Disease Attributes Pathologic Processes Leiomyoma Neoplasms, Muscle Tissue Neoplasms, Connective and Soft Tissue |
ClinicalTrials.gov processed this record on September 29, 2016