Understanding the Transition from Normal Melanocytes to Nevus to Melanoma (NevustoMel)

Fundacion Clinic per a la Recerca Biomédica

Status: Enrolling

Conditions: Nevi and Melanomas; Congenital Melanocytic Nevi; Melanoma, Skin

Treatments: Genetic: RNA sequencing; Genetic: Spatial transcriptomics; Genetic: Methylomics; Genetic: Liquid biopsy

Study type: Observational

Funder types: Other

Identifiers

NCT06605417

HORIZON-MISS-2021-CANCER-02-03 (Other Grant/Funding Number)

HCB/2023/0843

Details and patient eligibility

About

The primary objective of this study is to identify the molecular identity profiles of all cellular states that characterize the progression from benign nevi to malignant melanoma in CAYA patients with L/GCMN. The secondary objectives are:

• To longitudinally characterize the cell-free DNA (cfDNA) from CAYA patients.
• To improve the early diagnosis and treatments for intermediate conditions such as L/GCMN through evidence-based interpretation of personal risk from endogenous or exogenous sources.
• To test pre-clinical strategies to best model and improve patient response.

Full description

NevustoMel is an international multicentric retrospective cohort study with molecular and experimental design. It will involve the genomic characterization of cell-free DNA and affected tissues from patients. Methylomics and single-cell multi-omics will be used to identify co-existing molecular (transcriptional and epigenomic) states at single-cell level and will be generated from affected tissues. These results will be exploited using machine learning-assisted integration of multi-modal transcriptomics, epigenomics and spatial information. Integrated analyses of single-nucleus RNA sequencing from a selection of frozen tissues and spatial transcriptomics on formalin-fixed paraffin-embedded samples will allow the comparison of the findings to ground-state Human Developmental Cell Atlas data. Distinctions will be validated either with in situ hybridization (such as RNA sequencing) or immunostaining on test cohort tissues. These results will be complemented with in vitro functional analyses, high throughput sequencing and bioinformatic analyses.

Enrollment: 100 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• Congenital nevus with estimated size of 20 cm
• Be over 18 years of age

Exclusion criteria

• No available biological material
• Not having signed the informed consent

Trial design

100 participants in 2 patient groups

L/GCMN

Description:

Patients with congenital nevus with estimated size of 20 cm or more in adulthood (\> 18 years old)

Treatment:

Genetic: Liquid biopsy

Genetic: Methylomics

Genetic: Spatial transcriptomics

Genetic: RNA sequencing

Melanoma

Description:

Patients affected with Spitz-type or conventional melanomas in patients under 30 years of age

Treatment:

Genetic: Liquid biopsy

Genetic: Methylomics

Genetic: Spatial transcriptomics

Genetic: RNA sequencing