Department of Surgery, Faculty of Medicine, Kindai University, Osaka-sayama, Osaka, 589-8511, Japan.
Department of Genome Biology, Faculty of Medicine, Kindai University, Ohnohigashi 377-2, Osaka-Sayama, Osaka, 589-8511, Japan.
Int J Clin Oncol. 2022 Jul;27(7):1180-1187. doi: 10.1007/s10147-022-02167-z. Epub 2022 Apr 26.
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.
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).
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).
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.
Biocartis Idylla 平台是一个全自动、实时 PCR 为基础的诊断系统。Idylla KRAS 和 NRAS-BRAF 突变检测已被开发用于定性检测 KRAS、NRAS 和 BRAF 基因的突变，促进了结直肠癌患者的基因组分析。本研究的目的是评估这些检测在日本的临床性能。
使用研究用 Idylla KRAS 突变检测和 Idylla NRAS-BRAF 突变检测以及体外诊断试剂盒（MEBGEN RASKET-B 试剂盒）对 253 例福尔马林固定石蜡包埋（FFPE）结直肠癌组织的 RAS 和 BRAF 突变状态进行分析。
Idylla 检测无需重新检测即可获得有效突变数据的成功率为 97.6%（247/253）：111 个 KRAS 突变（43.8%）、9 个 NRAS 突变（3.6%）和 36 个 BRAF V600E 突变（14.2%）。与 MEBGEN RASKET-B 结果相比，阳性符合率为 97.4%，阴性符合率为 95.7%，总符合率为 95.3%（κ=0.919，95%CI 0.871-0.967）。Idylla KRAS 和 NRAS-BRAF 突变检测的平均周转时间为 5.6 个工作日（范围：3-11 天）。
本研究结果表明，Idylla KRAS 和 NRAS-BRAF 突变检测与现有的体外诊断试剂盒具有高度一致性。通过这种方式，Idylla 突变检测在检测结直肠癌患者 FFPE 样本中的临床意义重大的 KRAS、NRAS 和 BRAF 突变方面得到了验证。
