Background and Objectives: Melanoma is the leading cause of skin cancer-related mortality due to its high propensity for early metastasis, although survival rates have improved with the advent of targeted and immune-based therapies. Accurate detection of targetable mutations and assessment of tumor mutational burden are essential for informed therapeutic decision-making. Mutation profiling is routinely performed using next-generation sequencing (NGS). The Oncomine Focus Assay (OFA) detects common alterations in 52 genes across various tumor entities, whereas MelArray is a melanoma-specific NGS panel covering mutations in 190 melanoma-relevant genes and providing a genome-wide copy number analysis. Moreover, tumor mutational burden is being assessed. Materials and Methods: In this retrospective study, we analyzed the phenotypic characteristics of 100 patients with cutaneous melanoma who underwent NGS testing using either OFA or MelArray. The aims were to compare the diagnostic yield of the two panels and to investigate potential associations between mutational profiles and clinicopathological features of melanoma. Results: Tumor location, ulceration, and Breslow thickness showed significant correlations with the melanoma subtypes. BRAF mutations were the most frequent driver alterations across all cutaneous melanoma subtypes; however, no significant correlation between specific driver mutations and phenotypic characteristics was identified. MelArray detected a notably high number of alterations in the TERT promoter and CDKN2A genes, which were not captured by OFA and are of potential therapeutic relevance. Conclusions: In conclusion, MelArray enables a more comprehensive molecular characterization of cutaneous melanoma compared with a small generic cancer panel and may support more personalized therapeutic decision-making.
Quacoe et al. (Tue,) studied this question.
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