Clinical Trials Logo

Clinical Trial Summary

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.


Clinical Trial Description

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 caused HLRCC. Eligibility: -An individual from a family in which one or more biological family members have: - Cutaneous leiomyoma and kidney cancer. - Cutaneous leiomyoma and uterine leiomyoma. - Multiple cutaneous leiomyoma. - Kidney cancer and uterine leiomyomata. - Renal tumor histology consistent with HLRCC including, but not limited to: Collecting Duct and/or Papillary, Type II. Design: - These rare biological families will be recruited to genetically confirm diagnosis, determine size and location of renal tumors, size at presentation, growth rate and metastatic potential of renal tumors. - Genetic testing will be offered to gain appreciation of the effect of mutations on the relative activity of various germline and somatic mutations. - We will determine if there is a relationship between mutation and disease phenotype. ;


Study Design


Related Conditions & MeSH terms


NCT number NCT00050752
Study type Observational
Source National Institutes of Health Clinical Center (CC)
Contact Deborah A Nielsen, R.N.
Phone (240) 760-6247
Email deborah.nielsen@nih.gov
Status Recruiting
Phase
Start date February 24, 2003

See also
  Status Clinical Trial Phase
Completed NCT00541008 - Sunitinib as First-Line Therapy in Treating Patients With Locally Advanced Metastatic Papillary Renal Cell Cancer Phase 2
Completed NCT03520231 - Study Comparing Denosumab With Standard Treatment in Urothelial Cancer Patients With Bone Metastases Phase 2
Recruiting NCT04623502 - An Investigation of Kidney and Urothelial Tumor Metabolism in Patients Undergoing Surgical Resection and/or Biopsy N/A
Terminated NCT00788125 - Dasatinib, Ifosfamide, Carboplatin, and Etoposide in Treating Young Patients With Metastatic or Recurrent Malignant Solid Tumors Phase 1/Phase 2
Active, not recruiting NCT04383210 - Study of Seribantumab in Adult Patients With NRG1 Gene Fusion Positive Advanced Solid Tumors Phase 2
Active, not recruiting NCT03634540 - A Trial of Belzutifan (PT2977, MK-6482) in Combination With Cabozantinib in Patients With Clear Cell Renal Cell Carcinoma (ccRCC) (MK-6482-003) Phase 2
Completed NCT04534309 - Behavioral Weight Loss Program for Cancer Survivors in Maryland N/A
Active, not recruiting NCT01529658 - Renal Hypothermia During Partial Nephrectomy N/A
Completed NCT01048892 - Seneca Valley Virus-001 and Cyclophosphamide in Treating Young Patients With Relapsed or Refractory Neuroblastoma, Rhabdomyosarcoma, or Rare Tumors With Neuroendocrine Features Phase 1
Withdrawn NCT00769990 - Genistein in Treating Patients Undergoing External-Beam Radiation Therapy for Bone Metastases Phase 1/Phase 2
Completed NCT00790569 - Varenicline or Nicotine Patch and Nicotine Gum in Helping Smokers in a Methadone Treatment Program Stop Smoking N/A
Terminated NCT00896467 - Psychological and Emotional Impact in Patients Undergoing Treatment For Metastatic Cancer Either in a Clinical Trial or as Standard Off-Trial Therapy N/A
Recruiting NCT00301990 - Bevacizumab and Interleukin-2 in Treating Patients With Metastatic Kidney Cancer Phase 2
Completed NCT00098943 - NGR-TNF in Treating Patients With Advanced Solid Tumors Phase 1
Completed NCT00467077 - Gefitinib and PEG-Interferon Alfa-2b in Treating Patients With Unresectable or Metastatic Kidney Cancer Phase 2
Terminated NCT00899860 - Gene Expression in Normal Tissue and Tumor Tissue From Patients Who Have Undergone Surgery For Kidney Cancer N/A
Terminated NCT00089102 - Gemcitabine and Irinotecan in Treating Patients With Locally Advanced Unresectable or Metastatic Kidney Cancer Phase 2
Completed NCT00021021 - RPI.4610 in Treating Patients With Metastatic Kidney Cancer Phase 2
Completed NCT00006968 - Pentostatin Followed by Peripheral Stem Cell Transplantation in Treating Patients With Advanced Kidney Cancer Phase 1/Phase 2
Completed NCT00006022 - Interleukin-2 Plus Bryostatin 1 in Treating Patients With Melanoma or Kidney Cancer Phase 1