Genetic Identification (ID) of Segmental Dysplastic Nevi

Identification of the Genetic Mutation Responsible for Segmental Dysplastic Nevi

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).

Study Overview

• Status: Unknown
• Conditions: Segmental Dysplastic Nevi
• Intervention / Treatment: 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
• Enrollment (Anticipated): 1

Contacts and Locations

Study Locations

• Canada
  • Nova Scotia
    • Halifax, Nova Scotia, Canada, B3H1V7
      • Capital Heatlh
      • Contact: Denise F Teas, CCRP, CRA; Phone Number: 902-423-0482; Email: denise.teas@hotmail.com
      • Contact: Richard GB Langley, MD, FRCPC; Phone Number: 902-423-0482; Email: richard.langley@dal.ca

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (ADULT, OLDER_ADULT)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

One patient who is already known to the principal investigator

Description

Inclusion Criteria:

• Patient with a positive history of segmental dysplastic nevi

Exclusion Criteria:

• None

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

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

Collaborators and Investigators

• Sponsor: Nova Scotia Health Authority
• Investigators: Principal Investigator: Richard GB Langley, MD, FRCPC, Capital Health/Dalhousie University

Study record dates

Study Major Dates

• Study Start: August 1, 2009
• Primary Completion (ANTICIPATED): December 1, 2009
• Study Completion (ANTICIPATED): March 1, 2010

Study Registration Dates

• First Submitted: August 7, 2009
• First Submitted That Met QC Criteria: August 7, 2009
• First Posted (ESTIMATE): August 10, 2009

Study Record Updates

• Last Update Posted (ESTIMATE): September 3, 2009
• Last Update Submitted That Met QC Criteria: September 1, 2009
• Last Verified: September 1, 2009

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Neoplasms by Histologic Type; Neoplasms; Genetic Diseases, Inborn; Neoplastic Syndromes, Hereditary; Nevi and Melanomas; Hyperplasia; Nevus; Dysplastic Nevus Syndrome
• Other Study ID Numbers: SDN-001