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Genetic Identification (ID) of Segmental Dysplastic Nevi

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified September 2009 by Nova Scotia Health Authority.
Recruitment status was:  Not yet recruiting
Information provided by:
Nova Scotia Health Authority Identifier:
First received: August 7, 2009
Last updated: September 1, 2009
Last verified: September 2009
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 Intervention
Segmental Dysplastic Nevi Procedure: Punch Biopsy

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Identification of the Genetic Mutation Responsible for Segmental Dysplastic Nevi

Resource links provided by NLM:

Further study details as provided by Nova Scotia Health Authority:

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.

Estimated Enrollment: 1
Study Start Date: August 2009
Estimated Study Completion Date: March 2010
Estimated Primary Completion Date: December 2009 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
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

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.


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
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:

  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its identifier: 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
  More Information

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
Study First Received: August 7, 2009
Last Updated: September 1, 2009

Additional relevant MeSH terms:
Dysplastic Nevus Syndrome
Nevi and Melanomas
Neoplasms by Histologic Type
Pathologic Processes
Neoplastic Syndromes, Hereditary
Genetic Diseases, Inborn processed this record on September 21, 2017