Current Bioinformatics Seminar
Time: 11AM Tuesdays.
Venue: Davis Auditorium and Online
15 July 2025
This is a WEHI only event.Identification of diagnostic and prognostic genomics biomarkers for primary dermal melanoma
Peinan ZhaoWEHI Bioinformatics
Melanoma is the most lethal type of skin cancer. Most melanomas start in the epidermis, which is the top layer of the skin. Those melanomas can metastasise, spreading to deeper skin layers such as the dermis, and also more widely. The development of metastases is associated with poor patient outcomes. A less common subtype of melanoma, called primary dermal melanoma (PDM), begins in the dermis. PDMs look very similar to metastases in the dermis, but have a much lower chance of future relapse and progression to ultimately fatal disease. This presents major challenges for clinicians in making a correct diagnosis and in determining how likely to relapse are patients with a dermal melanoma. New markers are sorely needed that distinguish PDMs from melanoma metastases. To address this, TSO500 sequencing was performed on patient cohorts diagnosed with either PDMs or melanoma dermal metastases. Feature selection using regularised random forest revealed that genomics copy number variations (CNVs) were major distinctive features between PDMs and dermal metastases. Furthermore, Lasso-Cox regression demonstrated that CNVs affecting a key melanoma-associated gene named BRAF were closely associated with patient outcomes. Our findings indicate that incorporating DNA sequencing to detect CNVs improves the ability of clinicians to diagnose and predict relapse in patients with dermal melanomas. This could change the way that patients are cared after surgical removal of these melanomas.