Hereditary Leiomyomatosis Renal Cell Cancer (HLRCC): Identification of the Disease Gene, and Characterization of the Predisposition to Renal Cancer
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 1,130
- 试验地点
- 1
- 主要终点
- Determine the clinical manifestations of HLRCC
研究概览
简要总结
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.
详细描述
Background:
- Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is a rare autosomal dominantly inherited disorder which confers susceptibility to develop cutaneous and uterine leiomyomas and renal cell carcinoma.
- HLRCC is caused by mutations in the Krebs cycle enzyme, fumarate hydratase localized on chromosome 1q42.3-q43.
Objectives:
- Define the risk of developing renal cancer, cutaneous leiomyoma and uterine leiomyoma in this hereditary cancer syndrome
- Define the types and characteristics (including patterns of growth) of renal cancer associated with HLRCC
- Determine the incidence and characteristics of HLRCC-associated fumarate hydratase gene mutations
- Determine genotype/phenotype correlations
- Determine if other genes cause HLRCC
Eligibility:
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 年龄范围
- 2 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •INCLUSION CRITERIA:
- •Individuals 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; or
- •Cutaneous leiomyoma and uterine leiomyoma; or
- •Multiple cutaneous leiomyoma; or
- •Kidney cancer and uterine leiomyomata; or
- •Renal tumor histology consistent with HLRCC including, but not limited to: Collecting Duct and/or Papillary, Type II
- •All participants 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.
- •Participants must be >= 2 years of age.
- •A relative (related by blood) of an individual with a confirmed or suspected diagnosis of HLRCC.
排除标准
- 未提供
研究组 & 干预措施
1 / Individuals
Individuals with known or suspected Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome (HLRCC)
3 / Non-Biologic Family Members
Spouses enrolled primarily for linkage analysis (Spouses have been removed from the inclusion criteria for this study. This closed cohort is for spouses previously enrolled on study.)
2 / Family Members
Family members (related by blood) of individuals who have or are suspected of having Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome (HLRCC)
结局指标
主要结局
Determine the clinical manifestations of HLRCC
时间窗: on-going
Collection of blood, urine and/or benign and malignant tissue.
Determine if other genes cause HLRCC.
时间窗: on-going
Molecular genetic differences between normal and tumorigenic cells.
Determine genotype/phenotype correlations.
时间窗: on-going
Detection and expression analysis of gene(s).
Define the types and characteristics (including patterns of growth) of renal cancer associated with HLRCC.
时间窗: on-going
Detection and expression analysis of gene(s).
Determine the incidence and characteristics of HLRCC-associated fumarate hydratase gene mutations.
时间窗: on-going
Molecular genetic differences between normal and tumorigenic fumarate hydratase (fumerase) mutations.
Define the risk of developing renal cancer, cutaneous leiomyoma and uterine leiomyoma in this hereditary cancer syndrome.
时间窗: on-going
Collection of blood, urine and/or benign and malignant tissue.
次要结局
未报告次要终点