An Automated Real-Time PCR Assay versus Next-Generation Sequencing in the Detection of <i>BRAF</i> V600 Mutations in Melanoma Tissue Samples

oleh: Daniela Lenders, Irina Bonzheim, Matthias Hahn, Maximilian Gassenmaier, Valentin Aebischer, Andrea Forschner, Max Matthias Lenders, Lukas Flatz, Stephan Forchhammer

Format: Article
Diterbitkan: MDPI AG 2024-07-01

Deskripsi

Background: Next-generation sequencing (NGS) is the most commonly used method for determining <i>BRAF</i> mutational status in patients with advanced melanoma. Automated PCR-based methods, such as the Idylla<sup>TM</sup> 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 <i>BRAF</i> V600 mutational analysis using Idylla<sup>TM</sup> 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 <i>BRAF</i> mutation status of 51 patients was determined using both methods in parallel. Results: <i>BRAF</i> V600 mutation was detected in 23/51 cases (45%). Idylla<sup>TM</sup> 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<sup>TM</sup> than for NGS. Most patients received immunotherapy as a first-line therapy regardless of the <i>BRAF</i> V600 status. Conclusions: Idylla<sup>TM</sup> testing proved to be a reliable and rapid alternative to NGS in the determination of <i>BRAF</i> V600 mutation. Although <i>BRAF.</i> status was available earlier, this had no influence on the treatment decision in most cases.