View Clinical Trial (Medical Research Study)
Clinical Manifestations and Molecular Bases of Heritable Urologic Malignant Disorders
| City: |
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Bethesda |
| State: |
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Maryland |
| Zip Code: |
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20892 |
| Conditions: |
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Birt Hogg Dube Syndrome - Hereditary Papillary Renal Cell Carcinoma - Kidney Cancer - Multiple Endocrine Neoplasia - Von Hippel-Lindau Syndrome |
| Purpose: |
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RATIONALE: Genetic studies may help in understanding the genetic processes involved in the
development of some types of cancer.
PURPOSE: Genetic trial to study the genes of patients who have an inherited urologic
(genitourinary) malignancy (cancer).
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| Study Summary: |
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OBJECTIVES:
- Characterize the natural and clinical histories of patients with inherited urologic
malignancies.
- Determine the genetic etiology of inherited urologic malignancies in which the gene
defect is unknown, using linkage analysis, positional cloning, and evaluation of
candidate genes.
- Correlate specific mutations and associated protein domains with disease phenotypic
expression, in terms of presenting age, clinical manifestations, histopathology, and
rate of recurrence, in this patient population.
- Identify and describe unknown or uncharacterized inherited urologic malignancies.
OUTLINE: Patients undergo genetic counseling and possible genetic testing followed by a
detailed personal and family medical history, complete physical examination, and collection
of blood and tissue samples. If clinically indicated, patients may undergo further
diagnostic studies. Testing may be done over 1-4 days.
Blood and tissue samples are examined for specific mutations by single strand conformational
polymorphism and DNA sequencing. If the genetic basis is unknown, linkage studies using
polymorphic microsatellite markers may be conducted.
All patients receive the results of the clinical tests. Patients with urologic malignancies
for which the genetic defect is known receive their genetic test results, with genetic
counseling available.
Patients with active lesions are followed every 3 months to every 3 years, depending on
clinical status.
PROJECTED ACCRUAL: A total of 3,500 patients will be accrued for this study. This study will
include but is not limited to individuals from specific populations.
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| Criteria: |
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DISEASE CHARACTERISTICS:
- Patients or family members of patients in one of the following disease categories:
- Suspected or established diagnosis of urologic malignant disorder for which
genetic defect is known and mutation detection can be implemented, including the
following:
- von Hippel-Lindau (VHL) syndrome
- Hereditary papillary renal carcinoma, Type I
- Hereditary papillary renal carcinoma, Type II
- Birt Hogg Dube syndrome
- Multiple endocrine neoplasia 2 (MEN2)
- Suspected or established diagnosis of an inherited urologic malignancy for which
the genetic defect is unknown, including but not limited to:
- Clear cell renal carcinoma
- Hereditary renal oncocytoma
- Hereditary chromophobe renal cell carcinoma
- Urologic malignancy of suspected, but not proven, genetic etiology, including
families with more than one individual affected by the same or related cancers
- Patients or their family members must manifest one or more of the following features
in a pattern suggestive of a heritable urologic malignancy:
- At least one histologically confirmed or suspected renal carcinoma and/or cyst
- Cerebellar, spinal, medullary, or cerebral hemangioblastomas
- Retinal angioma
- Pancreatic neuroendocrine carcinoma, microcystadenoma, and/or cysts
- Pheochromocytoma
- Papillary cystadenoma of the epididymis or broad ligament
- Endolymphatic sac tumor
- Cutaneous fibrofolliculomas or multiple skin-colored papules
- History of spontaneous pneumothorax
- Lung cysts
- Thyroid carcinoma
- Intestinal polyposis with or without colon cancer
- Cutaneous or uterine leiomyoma or uterine leiomyosarcoma or sarcoma
- Patients, their at-risk family members, or spouses of patients with suspected
inherited urologic malignancies who demonstrate one or more of the above clinical
findings but who live too far from NIH to be evaluated at the Clinical Center are
also eligible* NOTE: *Local diagnostic testing and blood collection may be necessary
- Relatives or spouses enrolled primarily for genetic linkage studies are eligible but
will not undergo imaging diagnostic testing
PATIENT CHARACTERISTICS:
Age:
- 2 and over
Performance status:
- Not specified
Hematopoietic:
- Not specified
Hepatic:
- Not specified
Renal:
- Not specified
PRIOR CONCURRENT THERAPY:
Biologic therapy:
- Not specified
Chemotherapy:
- Not specified
Endocrine therapy:
- Not specified
Radiotherapy:
- Not specified
Surgery:
- Not specified
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| NCT ID: |
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NCT00019617 |
| Primary Contact: |
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Study Chair
William M. Linehan, MD
NCI - Urologic Oncology Branch
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| Backup Contact: |
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N/A |
| Location Contact: |
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Bethesda, Maryland 20892
United States
Clinical Trials Office - Warren Grant Magnusen Clinical Center
Phone: 888-NCI-1937
Site Status: Recruiting |
| Data Source: |
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ClinicalTrials.gov |
| Date Processed: |
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May 21, 2013 |
| Modifications to this listing: |
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