Aims Understanding the molecular mechanisms of underlying disease has led to a movement away from the one-drug-fits-all paradigm towards treatment tailored to the genetic profile of the patient. The Biocartis Idylla platform is a novel fully automated, real-time PCR–based in vitro diagnostic system. The Idylla NRAS-BRAF mutation test has been developed for the qualitative detection of mutations in NRAS and BRAF oncogenes, facilitating genetic profiling of patients with cancer. The aim of this study was to carry out a formal clinical performance evaluation.
Methods Two-hundred and forty-two formalin-fixed paraffin-embedded (FFPE) human malignant colorectal cancer (CRC) tissue samples were identified in departmental archives and tested with both the Idylla NRAS-BRAF mutation test and the Agena Bioscience MassARRAY test.
Results The overall concordance between the Idylla NRAS-BRAF mutation test and the MassARRAY comparator reference test result was 241/242 (99.59%, lower bound of one-sided 95% CI=98.1%) for NRAS and 242/242 (lower bound of 95% one-sided 95% CI=98.89%) for BRAF. The Idylla NRAS-BRAF test detected one NRAS mutation that had not been reported by the MassARRAY comparator reference test. Reanalysis of this sample by droplet digital PCR confirmed that the mutation was present, but at an allelic frequency below the stated sensitivity level of the MassARRAY system.
Conclusion These results confirm that the Idylla NRAS-BRAF mutation test has high concordance with a widely used NRAS-BRAF test, and is therefore suitable for use as an in vitro diagnostic device for this application.
- colorectal cancer
- molecular oncology
- molecular pathology
This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Statistics from Altmetric.com
Contributors Biocartis devised the project; LJ managed the project; TS and TM in Aarhus and AL in Newcastle located the CRC samples; Idylla and MassARRAY testing was carried out by NewGene; LJ and MP performed the analyses; all authors contributed to the final manuscript.
Funding The Idylla system and cartridges were provided by Biocartis who funded the study.
Competing interests EV is employed by Biocartis. Agena Bioscience have provided training, assay reagents and supported conference attendance by NewGene staff (AS, BC, AJL, LL) during the 36 months prior to this publication. All other authors have no completing interest to decline.
Ethics approval National Research and Ethics Service (London—Bloomsbury Research and Ethics Committee, reference 16/LO/0509) and the Central Denmark Region Committees on Health Research Ethics.
Provenance and peer review Not commissioned; externally peer reviewed.
Data sharing statement No additional unpublished data are available for sharing.
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.