Clinical Trial: Hereditary Leiomyomatosis Renal Cell Cancer - Study of the Genetic Cause and the Predisposition to Renal Cancer
Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational
Official Title: Hereditary Leiomyomatosis Renal Cell Cancer (HLRCC): Identification of the Disease Gene and Characterization of the Predisposition to Renal Cancer
Brief Summary:
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
- 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.
- 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.
- 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.
- Determine genotype/phenotype correlations. [ Time Frame: On-going ]
- Determine the incidence and characteristics of HLRCC associated fumarate hydratase gene mutations. [ Time Frame: On-going ]
- Define the types and characteristics (including patterns of growth) of renal cancer associated with HLRCC. [ Time Frame: On-going ]
- Define the risk of developing renal cancer, cutaneous leiomyoma and uterine leiomyoma in this hereditary cancer syndrome. [ Time Frame: On-going ]
- Determine if other genes cause HLRCC. [ Time Frame: On-going ]
Detailed Summary:
Background:
Objectives:
Eligibility:
-An individual from a family in which one or more family members have:
Design:
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Sponsor: National Cancer Institute (NCI)
Current Primary Outcome:
Original Primary Outcome:
Current Secondary Outcome:
Original Secondary Outcome:
Information By: National Institutes of Health Clinical Center (CC)
Dates:
Date Received: December 17, 2002
Date Started: December 17, 2002
Date Completion:
Last Updated: April 21, 2017
Last Verified: November 8, 2016
