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
Gynecological examination for women
Interviews with a cancer doctor, cancer nurses, kidney surgeon, and genetic counselor
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 (for participants 15 years of age and older only)
Skin biopsy (surgical removal of a small sample of skin tissue)
Cheek swab or mouth rinse to collect cells for genetic analysis
Medical photographs of lesions
Questionnaire
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.
INCLUSION CRITERIA:
Patients suspected or known to have phenotype or genotype suggestive of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome (HLRCC), such as:
Cutaneous leiomyoma and kidney cancer
Cutaneous leiomyoma and uterine leiomyoma
Multiple cutaneous leiomyoma
Kidney cancer and uterine leiomyomata
Renal tumor histology consistent with HRLRCC including, but not limited to: Collecting Duct and/or Papillary, Type II
All patients and parents/guardians, for children younger than 18 years of age, must sign an informed consent document indicating their understanding of the investigational nature and the risks of this study before any protocol related studies are performed. Patients under the age of 18 but who are age 13 or older will be asked to sign an assent document prior to participation.
Participants must be >= 2 years of age.
A relative (related by blood) of a patient with a confirmed or suspected diagnosis of HLRCC.
EXCLUSION CRITERIA:
None
| Facility | Status | Contact |
|---|---|---|
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Facility
National Institutes of Health Clinical Center
Bethesda, Maryland 20892
United States
Status
Recruiting
Contact
For more information at the NIH Clinical Center contact National Cancer Institute Referral Office
888-624-1937
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Recruiting |