Bethesda, Maryland 20892


Purpose:

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).


Study summary:

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.


Criteria:

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


NCT ID:

NCT00055627


Primary Contact:

Study Chair
William M. Linehan, MD
NCI - Urologic Oncology Branch


Backup Contact:

N/A


Location Contact:

Bethesda, Maryland 20892
United States

Patient Recruitment
Phone: 888-NCI-1937

Site Status: Recruiting


Data Source: ClinicalTrials.gov

Date Processed: December 17, 2017

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