An Automated Real-Time PCR Assay versus Next-Generation Sequencing in the Detection of V600 Mutations in Melanoma Tissue Samples.

Background: Next-generation sequencing (NGS) is the most commonly used method for determining mutational status in patients with advanced melanoma. Automated PCR-based methods, such as the Idylla system, are increasingly used for mutation diagnostics, but it is unclear what impact the choice of diagnostic method has on the management of melanoma.

Objectives: To compare the concordance rate of V600 mutational analysis using Idylla and NGS and to analyze the technical and clinical turnaround time. The clinical relevance is compared by analyzing the impact on the treatment decision.

Methods: In this monocentric prospective cohort study, the mutation status of 51 patients was determined using both methods in parallel.

Results: V600 mutation was detected in 23/51 cases (45%). Idylla showed a 100% concordant result with a faster turnaround time (0.2 days) compared to NGS (12.2 days). In general, less tumor material was required for Idylla than for NGS. Most patients received immunotherapy as a first-line therapy regardless of the V600 status.

Conclusions: Idylla testing proved to be a reliable and rapid alternative to NGS in the determination of V600 mutation. Although status was available earlier, this had no influence on the treatment decision in most cases.