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Genetic Study of Cancer Risk and Gene Identification in Patients and Families With Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome
This study is currently recruiting participants.
Study NCT00055627   Information provided by National Cancer Institute (NCI)
First Received: March 6, 2003   Last Updated: July 14, 2009   History of Changes

March 6, 2003
July 14, 2009
December 2002
 
 
 
Complete list of historical versions of study NCT00055627 on ClinicalTrials.gov Archive Site
 
 
 
Genetic Study of Cancer Risk and Gene Identification in Patients and Families With Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome
Hereditary Leiomyomatosis Renal Cell Cancer (HLRCC): Identification Of The Disease Gene And Characterization of The Predisposition To Renal Cancer

RATIONALE: Genetic studies may help in understanding the genetic processes involved in the development of some types of cancer and may help doctors identify patients who are at risk for cancer.

PURPOSE: This clinical trial is studying cancer risk and gene identification in patients and families with hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC).

OBJECTIVES:

  • Determine the types and characteristics (e.g., patterns of growth) of renal cancer in patients and families with hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome.
  • Determine the risk of renal cancer in patients and their families with HLRCC.
  • Determine the incidence of germline fumarate hydratase (fumerase) mutations in this population.
  • Determine whether other genes are responsible for HLRCC.
  • Correlate genotype and phenotype in this population.
  • Determine the clinical manifestations of HLRCC.

OUTLINE: Detailed family and medical histories are obtained from participants. Participants then undergo one or more of the following: physical examination, blood draw, imaging studies, and karyotypic analysis.

Blood or buccal smears are examined by linkage or DNA analysis and other genetic studies.

Participants may receive an explanation of study findings, appropriate counseling about their own status, and recommendations for follow-up/treatment. Participants may receive DNA results from analysis of their fumarate hydratase gene.

Some participants with indeterminate renal lesions are followed every 3-36 months, depending on the characteristics (e.g., size and/or growth) of the lesion.

PROJECTED ACCRUAL: A total of 90-120 participants will be accrued for this study within 3 years.

 
Observational
 
Precancerous/Nonmalignant Condition
  • Genetic: DNA ploidy analysis
  • Genetic: cytogenetic analysis
  • Genetic: genetic linkage analysis
  • Genetic: microarray analysis
  • Genetic: mutation analysis
  • Other: medical chart review
 

*   Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
 
Recruiting
120
 
 

DISEASE CHARACTERISTICS:

  • Patients with known or suspected hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome and their family members

    • Spouses also eligible
  • One or more family members must have 1 of the following:

    • 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 type II papillary carcinoma

PATIENT CHARACTERISTICS:

Age

  • Any age

Performance status

  • Not specified

Life expectancy

  • Not specified

Hematopoietic

  • Not specified

Hepatic

  • Not specified

Renal

  • Not specified

Other

  • Negative pregnancy test (if undergoing imaging tests)

PRIOR CONCURRENT THERAPY:

Biologic therapy

  • Not specified

Chemotherapy

  • Not specified

Endocrine therapy

  • Not specified

Radiotherapy

  • Concurrent standard-care radiotherapy allowed

Surgery

  • Concurrent standard-care surgery allowed
Both
 
No
 
United States
 
NCT00055627
 
CDR0000269913, NCI-03-C-0066
National Cancer Institute (NCI)
 
Study Chair: William M. Linehan, MD NCI - Urologic Oncology Branch
National Cancer Institute (NCI)
July 2009

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP