Identification of Risk Factors, Exposomics and Genetic Susceptibility of Melanoma in Children, Adolescents and Young Adults (ExpoMel)

University Hospital Tuebingen

Status: Enrolling

Conditions: Congenital Nevi; Melanoma; Spitzoid Melanoma

Study type: Observational

Funder types: Other

Identifiers

NCT06680323

834/2023BO2

Details and patient eligibility

About

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.

Full 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.

Enrollment: 200 estimated patients

Sex: All

Ages: Under 30 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• confirmed melanoma
• age until 30 years old

Exclusion criteria

• no available biological material
• no signed informed consent

Trial design

200 participants in 3 patient groups

Classic melanoma

Description:

Classic malignant melanoma under the age of 30 years For patients with available biospecimen, the germline genome, transcriptome and in selected cases tumour normal exomes will be sequenced.

Spitzoid melanoma

Description:

Spitzoid melanoma under the age of 30 years For patients with available biospecimen, the germline genome, transcriptome and in selected cases tumour normal exomes will be sequenced.

Other melanoma

Description:

Other melanoma as melanoma on congenital nevi under the age of 30 years For patients with available biospecimen, the germline genome, transcriptome and in selected cases tumour normal exomes will be sequenced.