Multi-center evaluation of the novel fully-automated PCR-based Idylla™ BRAF Mutation Test on formalin-fixed paraffin-embedded tissue of malignant melanoma.

The advent of BRAF-targeted therapies led to increased survival in patients with metastatic melanomas harboring a BRAF V600 mutation (implicated in 46–48% of malignant melanomas). The Idylla™ System (Idylla™), i.e., the real-time-PCR-based Idylla™ BRAF Mutation Test performed on the fully-automated Idylla™ platform, enables detection of the most frequent BRAF V600 mutations (V600E/E2/D, V600K/R/M) in tumor material within approximately 90 min and with 1% detection limit. Idylla™ performance was determined in a multi-center study by analyzing BRAF mutational status of 148 archival formalin-fixed paraffin-embedded (FFPE) tumor samples from malignant melanoma patients, and comparing Idylla™ results with assessments made by commercial or in-house routine diagnostic methods. Of the 148 samples analyzed, Idylla™ initially recorded 7 insufficient DNA input calls and 15 results discordant with routine method results. Further analysis learned that the quality of 8 samples was insufficient for Idylla™ testing, 1 sample had an invalid routine test result, and Idylla™ results were confirmed in 10 samples. Hence, Idylla™ identified all mutations present, including 7 not identified by routine methods. Idylla™ enables fully automated BRAF V600 testing directly on FFPE tumor tissue with increased sensitivity, ease-of-use, and much shorter turnaround time compared to existing diagnostic tests, making it a tool for rapid, simple and highly reliable analysis of therapeutically relevant BRAF mutations, in particular for diagnostic units without molecular expertise and infrastructure