Fast Five Quiz: Genetic/Biomarker Testing in Melanoma

Adil Daud, MD


February 22, 2022

Tumor/nodes/metastasis stage and presence/absence of a BRAF V600E/K mutation (for patients with stage III-IV melanoma) are the most relevant features in terms of deciding between immunotherapy or targeted therapy. In 2015, researchers found that mutations and/or amplifications in KIT can be used to guide treatment with KIT tyrosine kinase inhibitors. To date, however, clinicopathologic features associated with response to immunotherapy, including PD-L1 expression and tumor mutation burden, cannot be relied upon to inform therapeutic decisions in melanoma.

The total number of mutations present in a tumor appears to correlate with response to immune checkpoint inhibitors. Of note, mutation burden assessed by targeted next-generation sequencing strongly correlates with results from whole-exome sequencing assays. Researchers are still working to identify the optimal prognostic biomarkers, which will allow clinicians to choose the best therapeutic options for patients with this condition.

Learn more about the workup for malignant melanoma.


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