Current and Emerging Biomarkers in Melanoma
For the last decade, molecular classification of cutaneous melanoma has guided systemic therapy for unresectable and metastatic disease. During this period, we have also learned where somatic mutation testing can be strategically used to help resolve diagnostic uncertainty. While standard-of-care mutation testing in melanoma has remained stable, therapeutic breakthroughs and the evolution of medical oncology has outpaced laboratory biomarker development. Now, more than ever, there is significant clinical need for assays that improve risk stratification for this deadly disease. Recent data from clinical trial specimens hint at potential utility for circulating tumor DNA testing in improving risk stratification for stage II-IV melanoma. Nevertheless, more clinical validation studies are needed. In contrast, genomic signatures derived from melanoma and other tumors, such as global mutation burden and inflammatory gene expression, are purely investigational but suggest a biomarker framework for future clinical trials in immuno-oncology.
