Study to Test Genetic Alterations Among Different Dermoscopic Types of Melanocytic Nevi.
This project is a multicenter study in which we will investigate a dual concept of nevogenesis. Study location is the Department of Dermatology at the Medical University of Graz in collaboration with centers in Austria (Vienna), Italy (Naples, Benevento, Modena), Spain (Barcelona) and the United States (New York).
The hypothesis is that small congenital melanocytic nevi (CMN), "early" acquired melanocytic nevi in childhood (AMN) and dermal nevi, all dermatoscopically characterized by globular pattern, belong to the same spectrum of genetically determined melanocytic proliferations that develop due to endogenous pathways, in contrast to "true" acquired melanocytic nevi, dermatoscopically showing reticular pattern, that develop due to exogeneous factors such as UV-exposure.
|Study Design:||Allocation: Non-Randomized
Endpoint Classification: Bio-availability Study
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Basic Science
|Official Title:||BRAF and Nevi.Nevi Are Common Benign Pigmented Tumors of the Skin. Mutations in So-called BRAF and NRAS Genes Genes Appear to be Initiating Events Responsible for the Formation of Nevi.|
- Frequency of BRAF Mutations Among Nevi [ Time Frame: up to 30 months ] [ Designated as safety issue: No ]All nevi were analyzed for BRAF mutations using the (less sensitive) Sanger method. A random subset of nevi was also analyzed using the (more sensitive) Ultradeep pyro-sequencing method (UDPS). The frequency is reported here as the number of BRAF mutations found by each method.
- Frequency of NRAS Mutations Among Nevi [ Time Frame: 30 months ] [ Designated as safety issue: No ]All nevi were analyzed for NRAS mutations using the (less sensitive) Sanger method. The (more sensitive) Ultradeep pyro-sequencing method (UDPS) is not applicable for this mutation. The frequency is reported here as the number of NRAS mutations from the analyzed nevi.
|Study Start Date:||September 2006|
|Study Completion Date:||April 2010|
|Primary Completion Date:||March 2009 (Final data collection date for primary outcome measure)|
Experimental: Nevi from participants
Benign nevi dermoscopically sub-classified into 4 dermoscopic types (i.e., with globular, reticular, mixed pattern with globules in the center and mixed pattern with globules at the periphery) were excised from healthy volunteers for further genetical analysis
Genetic: To test the frequency of BRAF and NRAS mutations among nevi
Benign nevi excised for the study purpose where genetically analyzed for the presence/absence of BRAF and NRAS mutations
Other Name: NM_004333; Homo sapiens v-raf murine sarcoma viral oncogene homolog B1
The investigations to this study will verify whether small CMN, "early" AMN and dermal nevi, characterized by globular pattern differ in their genetic alterations compared to reticular typed nevi. It will be expected that globular typed nevi and eventually dermal nevi lack B-RAF mutations whereas reticular nevi show alterations in the B-RAF gene. Study location: Graz
Please refer to this study by its ClinicalTrials.gov identifier: NCT00422448
|Department of Dermatology, Medical University of Graz|
|Graz, Austria, 8036|
|Study Chair:||Iris Zalaudek, MD||Department of Dermatology, Medical University of Graz|