Recruiting

Observational Study

Sponsor:

National Cancer Institute (NCI)

Code:

NCT00040352

Conditions

Melanoma

Dysplastic Nevus Syndrome

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Accepted

Study Details

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 >=4 weeks 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.

Conditions

Melanoma

Dysplastic Nevus Syndrome

Study ID

NCT00040352

Start date

Jul 1, 2002

Status verified date

Aug 21, 2026

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Accepted

  • INCLUSION CRITERIA:
  • On referral, persons >=4 weeks old of any sex, 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

Study Design

Enrollment

3000 participants

Anticipated

Interventions and Outcome Measures

Arms

Affected Individual

An individual with personal medical history of melanoma of an unusual type, pattern, or number, a known or suspected condition predisposing to melanoma, either genetic or congenital factors (giant congenital nevi, dysplastic nevi, Spitzoid tumors), or unusual demographic features, or any of the other criteria noted in Section 4.1 of the protocol

Unaffected individual

A family member of an affected participant. Family members may include parents, siblings, children or extended family.

Primary outcome measure

  • All cancers that occur in individuals and families at high risk of melanoma [ Time Frame: Ongoing ]

Central Contacts and Locations

Central contacts

NCI Family Study Referrals

(800) 518-8474ncifamilystudyreferrals@mail.nih.gov

Michael R Sargen, M.D.

(240) 276-7354michael.sargen@nih.gov

Locations

National Cancer Institute (NCI)

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

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

Contacts

For more information at the NIH Clinical Center contact National Cancer Institute Referral Office

888-624-1937

More Information

Sponsor

National Cancer Institute (NCI)

Last update posted

Sep 3, 2026

Last verified

Aug 21, 2026

Keywords

  • Skin Cancer
  • Risk Factors
  • Melanoma Precursors
  • Genetics
  • Melanoma

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by National Cancer Institute (NCI) on 2026-09-03.