Performance of Idylla™ RAS-BRAF mutation test for formalin-fixed paraffin-embedded tissues of colorectal cancer

Abstract

Background The Biocartis Idylla™ platform is a fully automated, real-time PCR-based diagnostic system. The Idylla™KRAS and NRAS-BRAF Mutation Tests have been developed for the qualitative detection of mutations in KRAS, NRAS and BRAF genes, facilitating the genomic profiling of patients with colorectal cancer. The aim of the present study was to evaluate clinical performances of these tests in Japan. Methods The RAS and BRAF mutation statuses of 253 formalin-fixed paraffin-embedded (FFPE) colorectal cancer tissues were analyzed using the Investigational Use Only Idylla™KRAS Mutation Test and the Idylla™NRAS-BRAF Mutation Test and an in vitro diagnostics (IVD) kit (MEBGEN RASKET™-B kit). Results The success rate for obtaining a valid mutational data without retest of the Idylla tests was 97.6% (247/253): 111 KRAS mutations (43.8%), 9 NRAS mutations (3.6%), and 36 BRAF V600E mutations (14.2%) were detected using the Idylla tests. Compared with the MEBGEN RASKET-B results, the positive concordance rate was 97.4%, the negative concordance rate was 95.7%, and the overall concordance rate was 95.3% (κ = 0.919, 95% CI 0.871–0.967). The average turnaround time to Idylla™KRAS and NRAS-BRAF Mutation Test was 5.6 working days (range: 3–11 days). Conclusion This result demonstrates a high concordance between the Idylla™KRAS and NRAS-BRAF Mutation Tests and an existing IVD kit. In this manner, the Idylla™ mutation tests were validated for the detection of clinically significant KRAS, NRAS, and BRAF mutations in FFPE samples from colorectal cancer patients.

Comparison and Validation of Rapid Molecular Testing Methods for Theranostic Epidermal Growth Factor Receptor Alterations in Lung Cancer: Idylla versus Digital Droplet PCR

“…Other publications focused on FFPE sections have reported lower detection thresholds, ranging between 1% and 5% VAF [35][36][37], but with Cq ref values ranging from 20 to 23 [36]. Notably, larger multicenter studies have set input criteria of 10% [38], 20% [25], and even 30% [39] tumor content for Idylla. This variation may reflect differences in tumor content determination among pathologists, which becomes particularly relevant in cases of low cellularity and when studies are conducted prospectively across multiple centers.…”

“…However, determining the sensitivity of del19 detection is touchier. We used 39 Regarding Idylla, 21 out of 31 (67.7%) del19 samples were correctly genotyped. Among the 10 misdetected del19 samples (samples 3, 4, 7, 8, 17, 51, 56, 67, 70, 71), two had Cq ref values > 26 (samples 51, 67) and were classified as FNq.…”

Performance of Ultra-Rapid Idylla™ EGFR Mutation Test in Non-Small-Cell Lung Cancer and Its Potential at Clinical Molecular Screening

“…The colorectal team in our department also performed a comparison study between the Idylla assay and the MEBGEN RASKET-B assay for KRAS, NRAS, and BRAF mutations using 253 CRC specimens. The authors observed the potential clinical usefulness of the Idylla assay, showing a high concordance rate of 97.4%, a negative concordance rate of 95.7%, and overall concordance rate of 95.3% (κ = 0.919, 95% CI 0.871-0.967) [33]. Another group compared the Idylla assay with anti-BRAF V600E (clone VE1) immunohistochemistry in 90 melanoma samples.…”

Liquid Biopsies: Emerging role and clinical applications in solid tumours

“… OncoBEAM (Sysmex) CE-IVD KRAS & NRAS mCRC [ 75 ] 9. Idylla (Biocartis) CE-IVD KRAS NRAS, BRAF mCRC [ 76 ] 10. HCCBlood Test (Epigenomics AG) CE-IVD SEPT9 methylation HCC (patients with liver cirrhosis) [ 77 ] 11.…”