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Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Melanoma

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT00040352
Recruitment Status : Recruiting
First Posted : June 26, 2002
Last Update Posted : March 7, 2023
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) )

Study Description
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Brief Summary:

This study will investigate how genetic and environmental factors contribute to the development of melanoma, a type of skin cancer, and related conditions.

Individuals >= 2 years with a personal or family history of melanoma or atypical spitzoid/Spitz tumor may be eligible for this study. Participants will:

  • Fill out one or two questionnaires about their personal and family medical history.
  • Provide written consent for researchers to review their medical records and pathology materials related to their care and those of deceased relatives with melanomas, tumors, cancer, or other related illnesses for whom they are the next-of-kin or legally authorized representative.
  • Donate a blood or cheek cell sample to be used for genetic studies. (The blood sample is collected through a needle in an arm vein. The cheek cell sample is obtained either by gently brushing the inside of the mouth with a soft brush or by swishing a tablespoon of mouthwash and then spitting it into a container.)
  • Undergo a skin biopsy (removal of a small piece of skin tissue) for genetic study. For this procedure, the area of skin to be removed is numbed with a local anesthetic and a 1/4-inch piece of skin is excised with a cookie cutter-like instrument. The wound is then covered with a band-aid.

Participants may be asked to travel to the NIH Clinical Center for evaluation, including a medical history, physical examination, and some of the following procedures:

  • Full body skin examination to evaluate the type and number of moles and document any evidence of sun damage to the skin. The examination involves all the skin from the scalp to the bottoms of the feet. After the examination, a medical photographer will photograph the skin, with close-ups of skin lesions marked by the examiner. If there are parts of the skin the participant does not want examined or photographed, he or she can tell the examiner.
  • Blood draw of about 120 milliliters (4 ounces) or less
  • Skin biopsy
  • Cheek cell sample
  • X-rays, ultrasound and magnetic resonance imaging (MRI) studies to detect tumors or changes in tumors or other types of changes in specific tissues. MRI is a diagnostic test that uses strong magnetic fields and radiowaves to examine body tissues. The subject lies on a table that is moved into a large tunnel-like machine (the scanner) for about 45 minutes to 1 hour.

When the tests are finished, a doctor will discuss the results with the participant and the need, if any, for clinical follow-up.


Condition or disease
Melanoma Dysplastic Nevus Syndrome

Detailed Description:

Study Description:

Melanoma-prone families and individuals with risk factors for melanoma, including people with Spitzoid tumors and giant congenital nevi, are human models of susceptibility to neoplasia from which mechanisms of cancer susceptibility may be elucidated. For most of the high-risk cancer susceptibility genes, including CDKN2A and CDK4 in melanoma-prone families, germline mutations conferring risk have been found through family studies. Investigations of individuals and families at high risk of melanoma have led to etiologic clues that are important in the general population and have identified persons most likely to benefit from chemoprevention trials and screening programs aimed at early diagnosis of melanoma.

Objectives:

  1. To evaluate and define the clinical spectrum and natural history of disease in syndromes predisposing to melanoma
  2. To evaluate potential precursor states of disease in individuals and families at risk
  3. To quantify risks of melanoma, pancreatic cancer, and other cancers in family members and individuals with an elevated risk for melanoma
  4. To map, clone, and determine function of tumor susceptibility genes in melanoma-prone families, including modifier genes such as pigmentation or dysplastic nevi genes
  5. To identify genetic determinants and gene-environmental interactions conferring melanoma (and other cancer) risk in individuals and families
  6. To evaluate gene-gene and gene-environment interactions in melanoma (and other cancer) formation
  7. To characterize genetic alternations in precursor lesions and melanomas that occur in individuals and families with an increased risk of melanoma.
  8. To educate and counsel study participants about their melanoma risk and methods for primary and secondary prevention of melanoma
  9. To develop educational materials for medical professionals and high-risk family members

Endpoints:

Primary endpoints:

All cancers that occur in individuals and families at high risk of melanoma

Secondary endpoints:

Secondary endpoints are markers of pre-malignant conditions, such as dysplastic nevi, giant congenital nevi, and Spitzoid tumors

Study Design
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Study Type : Observational
Estimated Enrollment : 3000 participants
Observational Model: Family-Based
Time Perspective: Other
Official Title: Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Melanoma
Actual Study Start Date : July 1, 2002

Resource links provided by the National Library of Medicine

MedlinePlus Genetics related topics: Melanoma

Groups and Cohorts
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Outcome Measures
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Primary Outcome Measures :
  1. All cancers that occur in individuals and families at high risk of melanoma [ Time Frame: Ongoing ]
    1. Identification of major susceptibility genes for melanoma and dysplastic nevi. 2. Prospective risk of melanoma after initial exam and melanoma education. 3. Mortality of melanoma in families. 4. Identification of other risk factors for familial melanoma. 5. Identification of other cancers in melanoma-prone individuals and families.


Secondary Outcome Measures :
  1. Secondary endpoints are markers of pre-malignant conditions, such as dysplastic nevi, giant congenital nevi, and Spitzoid tumors [ Time Frame: Ongoing ]
    Identify markers, genes in premalignant conditions.


Eligibility Criteria
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Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   2 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
All members of families with three or more living melanoma cases in the U.S. are eligible for inclusion in the study if the families are willing to participate.@@@@@@
Criteria
  • INCLUSION CRITERIA:
  • On referral, persons >=2 years old of any gender, race or ethnicity will be considered for inclusion in the study because of the criteria noted below.

  • Affected: An individual who meets any of the following criteria will be eligible to participate in this study:

    • personal medical history of melanoma of an unusual type, pattern, or number diagnosed at any age; or,
    • known or suspected factor(s) predisposing to melanoma, either genetic or congenital factors (giant congenital nevi, dysplastic nevi, Spitzoid tumors), or unusual demographic features (e.g., very young age of onset, multiple melanomas, previous history of heritable retinoblastoma, Hodgkin s disease, lymphoma, immunodeficiency syndrome, or organ transplant).
    • Ability of the individual or their parent or legal guardian, to understand, and their willingness to provide informed consent.

  • Unaffected: An individual who meets any of the following criteria will be eligible to participate in this study:

    • family medical history of melanoma of an unusual type, pattern, or number; or,
    • known or suspected factor(s) predisposing to melanoma, either genetic or congenital factors (giant congenital nevi, dysplastic nevi. Spitzoid tumors), or unusual demographic features (e.g., very young age of onset, multiple melanomas, previous history of heritable retinoblastoma, Hodgkin s disease, lymphoma, immunodeficiency syndrome, or organ transplant).
    • Ability of the individual or their parent, or legal guardian to understand, and their willingness to provide informed consent.
  • Personal and family medical history must be verified through questionnaires, interviews, and review of pathology slides and medical records.

EXCLUSION CRITERIA:

  • Referred individuals and families for whom reported diagnoses cannot be verified;
  • Inability to provide informed consent
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00040352


Contacts
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Contact: NCI Family Study Referrals (800) 518-8474 ncifamilystudyreferrals@mail.nih.gov
Contact: Michael R Sargen, M.D. (240) 276-7354 michael.sargen@nih.gov

Locations
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United States, Maryland
National Cancer Institute (NCI) Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact National Cancer Institute Referral Office    888-624-1937      
National Institutes of Health Clinical Center Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact National Cancer Institute Referral Office    888-624-1937      
Sponsors and Collaborators
National Cancer Institute (NCI)
Investigators
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Principal Investigator: Michael R Sargen, M.D. National Cancer Institute (NCI)
More Information
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Additional Information:

Publications:

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

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Responsible Party: National Cancer Institute (NCI)
ClinicalTrials.gov Identifier: NCT00040352    
Obsolete Identifiers: NCT00045240
Other Study ID Numbers: 020211
02-C-0211
First Posted: June 26, 2002    Key Record Dates
Last Update Posted: March 7, 2023
Last Verified: March 3, 2023

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) ):
Genetics
Risk Factors
Natural History
 Melanoma Precursors
Skin Cancer
Melanoma
Additional relevant MeSH terms:
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Melanoma
Dysplastic Nevus Syndrome
Neuroendocrine Tumors
Neuroectodermal Tumors
Neoplasms, Germ Cell and Embryonal
Neoplasms by Histologic Type
 Neoplasms
Neoplasms, Nerve Tissue
Nevi and Melanomas
Nevus
Neoplastic Syndromes, Hereditary
Genetic Diseases, Inborn