Congenital Nevi, Melanoma, Spitzoid Melanoma
Conditions
Keywords
etiology, melanoma, children, adolescents, young adults, genetic predisposition, epidemiology, exposomes
Brief summary
The primary objective of this study is the identification of environmental and genetic factors involved in the risk and progression of melanoma in children, adolescents and young adults (CAYA). The secondary objectives are to generate a model integrating the genetic and environmental factors to estimate the risk of developing melanoma and improve the primary prevention of melanoma through evidence-based interpretation of environmental risk.
Detailed description
By retrieving data from several epidemiological and clinical registries across Europe it is aimed to integrate and maximize efforts in order to create a large dataset that serves for a comprehensive analysis of genetic and environmental factors influencing the etiology of melanoma in CAYA. The data will be combined with exposome information about climate and pollution for the development of a weighted risk score. Furthermore, germline high risk mutations and germline low-medium risk variants will be analyzed. Genome and transcriptome sequencing of blood and in selected cases tumour will provide the most comprehensive data to create a polygenic risk score for CAYA melanoma. Transcriptome data will help to identify and characterize the effect of variants of unknown significance in coding, intronic as well as regulatory regions. Tumour sequencing can provide additional information on functional relevance of variants, e.g. secondary hits in tumour tissue or second hits in tumour suppressor genes. Such identification will be highly advantageous to design prevention strategies for melanoma development in CAYA.
Interventions
None listed
Sponsors
Hospital Clinic of Barcelona
University Of Perugia
Fondazione IRCCS Istituto Nazionale dei Tumori, Milano
Karolinska University Hospital
Leibniz Research Institute for Environmental Medicine Düsseldorf
Princess Maxima Center for Pediatric Oncology
Medical University of Gdansk
University Hospital Tuebingen
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
No minimum to 30 Years
Inclusion criteria
* confirmed melanoma * age until 30 years old
Exclusion criteria
* no available biological material * no signed informed consent
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Identification of environmental and genetic factors involved in the risk and progression of melanoma in children, adolescents and young adults (CAYA) | 01.01.2024 - 30.11.2025 | By retrieving data from several epidemiological and clinical registries across Europe we aim to create a large dataset that serves for a comprehensive analysis of genetic and environmental factors influencing the etiology of melanoma in CAYA. Data on climate variables such as surface temperature, solar radiation, and air pollutants will be collected from ground-based instruments, such as air quality monitoring stations, and satellites and reanalysis data from the Copernicus Atmosphere Monitoring Service (CAMS). Data analysis from genome sequencing will be done using established bioinformatic pipelines and combined with exposome information about climate and pollution for the development of a weighted risk score. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Generating a polygenic risk score for melanoma in CAYA by using the Lindeman-Merenda-Gold (LMG) method | 01.06.2024 - 31.05.2026 | Genome and transcriptome sequencing of blood and in selected cases tumour will provide the most comprehensive data to create a polygenic risk score for melanoma in CAYA. We will develop a weighted risk score for each environmental factor, which comprises the effects of several variables measuring the respective risk factor. Additionally, a weighted risk score for the epigenetic variables will be build. To estimate the relative contribution of environmental and epigenetic factors we will calculate the relative importance (proportion of explained variance) of the weighted risk scores in an ordinary linear regression model using the Lindeman-Merenda-Gold (LMG) method. |
| Prevention strategies for melanoma development in CAYA | 01.06.2025 - 30.09.2026 | The detected risk factors and determinants will be used by health professionals to update clinical guidelines for prevention, screening and early detection of melanoma in CAYA. Health care system strategies will be implemented in European countries overcoming current gaps in European countries on prevention and diagnosis of melanoma in CAYA. The success will be measured by incidence rates of melanoma. |
Countries
Germany, Italy, Poland, Spain, Sweden
Contacts
Primary ContactInes B Brecht, MD, PhD
Backup ContactChristopher Schroeder, MD
Outcome results
None listed