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Investigator(s):
W. Marston Linehan, M.D. Principal Investigator Phone: 301-496-6353 linehanm@mail.nih.gov
Referral Contact(s):
Lindsay A. Middleton, R.N., C.G.C. Genetic Counselor Phone: 301-402-7911

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Key Eligibility Criteria:

• Patients with known or suspected hereditary leiomyomatosis 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

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Study Outline:

• Detailed family and medical histories are obtained from patients; patients then undergo one or more of the following: physical examination, blood draw, imaging studies, karyotypic analysis
• Blood or buccal smears are examined by linkage or DNA analysis and other genetic studies
• Patients may receive an explanation of study findings, appropriate counseling about their own status, and recommendations for follow-up/treatment

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Additional Information:

• This trial will be conducted at the NIH Clinical Center in Bethesda, MD. It is open to patients who meet the eligibility requirements, regardless of where they live in the United States.
• There is no charge for medical care received at NIH Clinical Center.
• PDQ (Physicians Data Query) - provides additional details about this study for health care providers.

Reviewed: 12/14/12
Updated: 2/15/10