Nevi
Conditions
Keywords
Dermoscopy, Histopathology, Genetics, Nevi, Nevogenesis
Brief summary
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.
Detailed description
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
Interventions
GENETICTo 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
Sponsors
Medical University of Graz
Study design
Allocation
NON_RANDOMIZED
Intervention model
SINGLE_GROUP
Primary purpose
BASIC_SCIENCE
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
9 Years to 80 Years
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Frequency of BRAF Mutations Among Nevi | up to 30 months | 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Frequency of NRAS Mutations Among Nevi | 30 months | 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. |
Countries
Austria
Participant flow
Recruitment details
Pigmented lesion clinic from October 2006 to March 2009
Pre-assignment details
Insufficient prospective accrual of patients during the 1st year of enrollment lead to additional retrospective inclusion of a dataset of 21 paraffin-embedded tissue specimens from excised nevi .
Participants by arm
| Arm | Count |
|---|---|
| Nevi with or without BRAF and NRAS | 43 |
| Total | 43 |
Baseline characteristics
| Characteristic | Nevi |
|---|---|
| Age, Categorical <=18 years | 0 Participants |
| Age, Categorical >=65 years | 0 Participants |
| Age, Categorical Between 18 and 65 years | 43 Participants |
| Age Continuous | 39.3 years STANDARD_DEVIATION 9.413 |
| Region of Enrollment Austria | 22 participants |
| Region of Enrollment Italy | 21 participants |
| Sex: Female, Male Female | 23 Participants |
| Sex: Female, Male Male | 20 Participants |
Adverse events
| Event type | EG000 affected / at risk |
|---|---|
| deaths Total, all-cause mortality | — / — |
| other Total, other adverse events | 0 / 0 |
| serious Total, serious adverse events | 0 / 0 |
Outcome results
Primary
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
Population: 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.
| Arm | Measure | Group | Value (NUMBER) |
|---|---|---|---|
| Nevi | Frequency of BRAF Mutations Among Nevi | Sanger method (n=45) | 6 BRAF mutations |
| Nevi | Frequency of BRAF Mutations Among Nevi | UDPS (n=24) | 19 BRAF mutations |
Secondary
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
Population: 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.
| Arm | Measure | Value (NUMBER) |
|---|---|---|
| Nevi | Frequency of NRAS Mutations Among Nevi | 0 NRAS mutations |