Studying the Molecular Changes from Normal Skin Cells to Nevus to Melanoma in Patients with Large Congenital Nevi and Melanoma under 30 Years

What this Trial Is About

Researchers are investigating the molecular changes from benign moles to malignant melanoma in children, adolescents, and young adults CAYA with large or giant congenital melanocytic nevi LGCMN. This study aims to identify the molecular profiles of cells involved in this progression and to better understand early diagnosis and treatment options. It also explores new pre-clinical strategies to improve patient responses using advanced molecular techniques. The study uses advanced genetic analyses including methylomics, RNA sequencing, spatial transcriptomics, and liquid biopsies to analyze affected tissue samples and cell-free DNA from blood or saliva. These analyses will be performed on frozen and formalin-fixed tissue samples, with integrated data analyses assisted by machine learning. The study is retrospective and multicentric, involving detailed molecular and experimental characterizations. Participants will provide tissue samples and biological material that will undergo various molecular tests such as single-cell RNA sequencing and spatial transcriptomics. The research team will evaluate molecular identity profiles over 26 months, alongside longitudinal cell-free DNA profiles. The study also includes functional lab analyses and bioinformatics to support findings. Participants samples and data will contribute to understanding disease progression and improving diagnosis and treatment strategies.

Understanding the Transition from Normal Melanocytes to Nevus to Melanoma