Molecular Characterization of Advanced-Stage Melanomas in Clinical Practice Using a Laboratory-Developed...

Area of Science:

• Oncology
• Genetics
• Molecular Biology

Background:

• Cutaneous melanoma is a lethal skin cancer driven by genetic mutations.
• Next-generation sequencing (NGS) is crucial for understanding melanoma's molecular landscape.
• Accurate molecular profiling aids diagnosis, prognosis, and targeted therapy.

Purpose of the Study:

• To evaluate a laboratory-designed NGS panel for routine advanced-stage melanoma assessment.
• To determine the reliability and utility of the multi-gene NGS panel in clinical practice.
• To identify frequently altered genes and assess variant concordance between primary and metastatic lesions.

Main Methods:

• Utilized a laboratory-developed multi-gene NGS panel to analyze 229 amplicons across 25 genes.
• Tested 260 advanced-stage melanoma specimens.
• Compared NGS results from primary and metastatic lesions in eight cases.

Main Results:

• The NGS panel demonstrated high reliability, with a failure rate of only 1.2%.
• BRAF (44.0%) and TERT (59.9%) were the most frequently altered genes.
• 59.3% of mutated cases showed at least two concurrent variants.
• 100% concordance in genetic variants was observed between primary and metastatic melanoma samples.

Conclusions:

• The laboratory-developed NGS panel is a valid and reliable tool for routine clinical assessment of advanced-stage melanoma.
• NGS provides comprehensive molecular insights essential for personalized melanoma management.
• Consistent genetic profiles between primary and metastatic sites support the use of NGS for treatment decisions.