Study to Test Genetic Alterations Among Different Dermoscopic Types of Melanocytic Nevi.

Medical University of Graz43 enrolled

Overview

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.

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

Study Type

INTERVENTIONAL

Allocation

NON_RANDOMIZED

Purpose

BASIC_SCIENCE

Masking

NONE

Enrollment

Conditions

Nevi

Interventions

Eligibility

Sex: ALLMin age: 9 YearsMax age: 80 YearsHealthy volunteers:

Medical Language ↔ Plain English

Inclusion Criteria: * Healthy individuals aged 9 to 80 years showing one or more dermoscopically benign nevi with either uniform globular-cobblestone pattern or reticular pattern or a combination of both types Exclusion Criteria: * Children under the age of 9 years * Pregnant woman * Patients with atypical nevi (i.e., melanoma cannot be clinically ruled out) * Patients with immunosuppression * Patients with sun exposure 4 weeks before enrollment

Outcomes

Primary Outcomes

Frequency of BRAF Mutations Among Nevi

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.

Time frame: up to 30 months

Secondary Outcomes

Frequency of NRAS Mutations Among Nevi

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.

Time frame: 30 months