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Protocol Details

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

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




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


Population Exclusion(s)



Renal Cancer;
Hereditary Leiomyomatosis;
Uterine Fibroid;
Cutaneous Leiomyoma;
Natural History

Recruitment Keyword(s)



Renal Tumor Histology;
Cutaneous Leiomyoma;
Kidney Cancer

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Cancer Institute

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


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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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.



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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.

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.

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.

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Principal Investigator

Referral Contact

For more information:

W. Marston Linehan, M.D.
National Cancer Institute (NCI)
NIHBC 10 - CRC BG RM 1-5942
(240) 858-3700

Deborah A. Nielsen, R.N.
National Cancer Institute (NCI)
National Institutes of Health
Building 10
Room 13N218
10 Center Drive
Bethesda, Maryland 20892
(240) 760-6247

NCI Referral Office
National Institute of Health Clinical Center (CC), 9000 Rockville Pike, Bethesda, Maryland 20892, United States: NCI Clinical Trials Referral Office

Clinical Trials Number:


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