This study is currently recruiting participants.
Number
03-C-0066
Sponsoring Institute
National Cancer Institute (NCI)
Recruitment Detail
Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 2 Years Max Age: N/A
Referral Letter Required
No
Population Exclusion(s)
None
Keywords
Renal Cancer; Hereditary Leiomyomatosis; Uterine Fibroid; Cutaneous Leiomyoma; Natural History
Recruitment Keyword(s)
Condition(s)
Renal Tumor Histology; Cutaneous Leiomyoma; Kidney Cancer
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Supporting Site
National Cancer Institute
-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:
1. Genetic research to identify the gene responsible for HLRCC
2. Evaluation of liver, kidney, heart, pancreas, and thyroid function
3. Complete blood count and clotting profile
4. Pregnancy test for pre-menopausal women
5. 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.
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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
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:
Principal Investigator
Referral Contact
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