Multi-omic biomarker detection in UV-induced melanoma

Area of Science:

• Oncology
• Molecular Diagnostics
• Laboratory Medicine

Background:

• UV radiation-induced melanoma has distinct multi-omic signatures detectable in bodily fluids.
• Current biomarker discovery faces challenges in clinical translation due to analytical variability and lack of validation.

Purpose of the Study:

• To critically evaluate multi-omic biomarkers for UV-induced melanoma within clinical chemistry and diagnostic laboratory medicine.
• To emphasize robust analytical qualities, pre-analytical standardization, and clinical validation for biomarker utility.

Main Methods:

• Review of circulating tumor DNA (ctDNA) for mutation tracking (BRAF, NRAS, TERT) using ddPCR and NGS.
• Evaluation of epigenetic (RASSF1A methylation), miRNA, protein (S100B, CRP, IL-8), and metabolomic biomarkers.
• Assessment of analytical variability, pre-analytical confounders, and clinical utility.

Main Results:

• Longitudinal ctDNA dynamics show high concordance with tissue genotypes and may predict radiographic progression.
• Epigenetic and miRNA signatures show potential for diagnostic and prognostic stratification.
• Protein and metabolomic profiles indicate utility in therapy monitoring and treatment response assessment.

Conclusions:

• Standardization of specimen handling, reference materials, and analytical performance reporting is crucial for clinical utility.
• Addressing pre-analytical confounders and analytical variations is essential for biomarker translation.
• Multi-omic approaches, when rigorously validated and standardized, hold promise for minimally invasive melanoma monitoring.