Genetic Identification (ID) of Segmental Dysplastic Nevi

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. Read our disclaimer for details. Identifier: NCT00955578
Recruitment Status : Unknown
Verified September 2009 by Nova Scotia Health Authority.
Recruitment status was:  Not yet recruiting
First Posted : August 10, 2009
Last Update Posted : September 3, 2009
Information provided by:
Nova Scotia Health Authority

Brief Summary:
The investigators' goal is to identify the mutation in the gene that is responsible for the development of segmental dysplastic nevi. To identify the gene the investigators may use a candidate gene approach (i.e. sequence specific genes that are thought to be involved: NRAS, BRAF, etc) or a genome-wide approach trying to implicate regions in the genome (Loss-of-heterozygosity or copy number changes on comparative genomic hybridization).

Condition or disease Intervention/treatment
Segmental Dysplastic Nevi Procedure: Punch Biopsy

Detailed Description:

Dysplastic (atypical) melanocytic (DMN) nevi have been identified as being potential precursors of melanoma and markers for patients at risk of developing primary melanoma1. In addition, having an increased number of nevi is associated with increased risk1. DMN are present in 2-5% of white adults in the U.S. population and international studies have documented up to 18% prevalence2. These lesions may be present in at least 17% of white adults with melanoma and 20-50% of melanomas may arise in nevi and atypical nevi2. The exact gene(s) involved in the development of nevi have yet to be elucidated.

Segmental dysplastic nevi are nevi that are restricted to one area of the body3. This condition is much rarer than the occurrence of dysplastic nevi, but nonetheless, may involve the same genetic mutation. The pattern of distribution in SDN is thought to result from mosaicism, i.e. the part of the body that expresses the dysplastic nevi has a mutation in a gene, however, the rest of the body does not contain this same mutation. Other mosaic disorders that have been studied in greater detail than SDN have been shown to be caused by a single gene mutation4. It appears that SDN is no different and that it too is caused by a mutation in a single gene, however, this gene is not yet known.

In this study we will perform a genetic analysis of tissue from a patient known to have SDN. With the information we gather from this analysis, we may be able to find the gene responsible for the development of dysplastic nevi.

Primary Research Objective:

To investigate the genetic mutation involved in the development of dysplastic nevi by examining a patient with SDN.

Study Type : Observational
Estimated Enrollment : 1 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Identification of the Genetic Mutation Responsible for Segmental Dysplastic Nevi
Study Start Date : August 2009
Estimated Primary Completion Date : December 2009
Estimated Study Completion Date : March 2010

Resource links provided by the National Library of Medicine

Group/Cohort Intervention/treatment
Segmental Dysplastic Nevi
One patient who has been diagnosed with SDN and has had previous biopsies in the past, comparing to current biopsies
Procedure: Punch Biopsy
5-6 punch biopsies of affected areas

Biospecimen Retention:   Samples With DNA
The participant will be involved in the study for the length of time required to obtain 5 to 6 skin biopsiesThe laboratory testing that will be performed includes a genetic analysis of the tissue obtained from biopsy. The genetic analysis will take place in the genetics lab of Dr. Hensin Tsao, Massachusetts General Hospital, Bartlett 622, 48 Blossom Street, Boston MA, 02114.

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
One patient who is already known to the principal investigator

Inclusion Criteria:

  • Patient with a positive history of segmental dysplastic nevi

Exclusion Criteria:

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 identifier (NCT number): NCT00955578

Canada, Nova Scotia
Capital Heatlh Not yet recruiting
Halifax, Nova Scotia, Canada, B3H1V7
Contact: Denise F Teas, CCRP, CRA    902-423-0482   
Contact: Richard GB Langley, MD, FRCPC    902-423-0482   
Sponsors and Collaborators
Nova Scotia Health Authority
Principal Investigator: Richard GB Langley, MD, FRCPC Capital Health/Dalhousie University

Responsible Party: Denise Teas or Richard Langley, MD, FRCPC, Dermatologist, Capital Health/Dalhousie University Identifier: NCT00955578     History of Changes
Other Study ID Numbers: SDN-001
First Posted: August 10, 2009    Key Record Dates
Last Update Posted: September 3, 2009
Last Verified: September 2009

Additional relevant MeSH terms:
Dysplastic Nevus Syndrome
Nevi and Melanomas
Neoplasms by Histologic Type
Pathologic Processes
Neoplastic Syndromes, Hereditary
Genetic Diseases, Inborn