Protocol Number: 03-C-0066

Title:

Hereditary Leiomyomatosis Renal Cell Cancer (HLRCC): Identification of the Disease Gene and Characterization of the Predisposition to Renal Cancer

Number:

03-C-0066

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; or kidney cancer and uterine leiomyomas. 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:

- Interviews with a cancer doctor, cancer nurses, genetic counselor and kidney surgeon;

- 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;

- Skin examination;

- Skin biopsy (surgical removal of a small sample of skin tissue);

- Cheek swab to collect cells for genetic analysis;

- Medical photographs of lesions.

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.

Sponsoring Institute:

National Cancer Institute (NCI)

Recruitment Detail

Type: Active Accrual Of New Subjects

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility Criteria:

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

Spouses enrolled primarily for linkage analysis

EXCLUSION CRITERIA

Persons unable to give informed consent.

Special Instructions: Currently Not Provided

Keywords:

Fibroid

Kidney

Cutaneous

Carcinoma

Tumor

Recruitment Keywords:

None

Conditions:

Leiomyomatosis

Kidney Neoplasms

Investigational Drug(s):

None

Investigational Device(s):

None

Contacts:

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citations:

Linehan WM, Lerman MI, Zbar B. Identification of the von Hippel-Lindau (VHL) gene. Its role in renal cancer. JAMA. 1995 Feb 15;273(7):564-70. Review. No abstract available. PMID: 7837390

Latif F, Tory K, Gnarra J, Yao M, Duh FM, Orcutt ML, Stackhouse T, Kuzmin I, Modi W, Geil L, et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science. 1993 May 28;260(5112):1317-20. PMID: 8493574

Zbar B, Tory K, Merino M, Schmidt L, Glenn G, Choyke P, Walther MM, Lerman M, Linehan WM. Hereditary papillary renal cell carcinoma. J Urol. 1994 Mar;151(3):561-6. Review. PMID: 8308957

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
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