Clinical trial · Observational
Hereditary Leiomyomatosis Renal Cell Cancer - Study of the Genetic Cause and the Predisposition to Renal Cancer
Hereditary Leiomyomatosis Renal Cell Cancer (HLRCC): Identification of the Disease Gene, and Characterization of the Predisposition to Renal Cancer
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 17, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260917-000001
Summary
Brief summary (as posted)
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: 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.
Conditions
Conditions (3)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Cutaneous Leiomyoma | Skin Leiomyoma | ALIAS | 0.90 |
| Kidney Cancer | Malignant Kidney Neoplasm | CURATED_EXACT | 0.92 |
| Renal Tumor Histology | — | UNRESOLVED | — |
Interventions
Interventions (0)
Data not yet available
Design
Arms and outcomes
Arms (3)
- label
- 1 / Individuals
- description
- Individuals with known or suspected Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome (HLRCC)
- label
- 2 / Family Members
- description
- Family members (related by blood) of individuals who have or are suspected of having Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome (HLRCC)
- label
- 3 / Non-Biologic Family Members
- description
- 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.)
Primary outcomes (6)
- measure
- Determine the incidence and characteristics of HLRCC-associated fumarate hydratase gene mutations.
- timeFrame
- on-going
- description
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 2 Years
Show eligibility criteria text
* 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. EXCLUSION CRITERIA: None
References
Publications (3)
- BACKGROUNDLinehan 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. No abstract available. PMID 7837390
- BACKGROUNDLatif 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. doi: 10.1126/science.8493574. PMID 8493574
- BACKGROUNDZbar 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. doi: 10.1016/s0022-5347(17)35015-2. PMID 8308957