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Clinical performance evaluation of the Idylla NRAS-BRAF mutation test on retrospectively collected formalin-fixed paraffin-embedded colorectal cancer tissue

Lookup NU author(s): Dr Louise Johnston, Dr Michael Power, Professor Philip Sloan, Anna Long, Dr Angela Silmon, Dr Ben Chaffey, Jane Lisgo, Liam Little, Professor John Simpson

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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC 4.0).


Abstract

© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted. 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.


Publication metadata

Author(s): Johnston L, Power M, Sloan P, Long A, Silmon A, Chaffey B, Lisgo AJ, Little L, Vercauteren E, Steiniche T, Meyer T, Simpson J

Publication type: Article

Publication status: Published

Journal: Journal of Clinical Pathology

Year: 2018

Volume: 71

Issue: 4

Pages: 336-343

Print publication date: 01/04/2018

Online publication date: 12/09/2017

Acceptance date: 04/08/2017

ISSN (print): 0021-9746

ISSN (electronic): 1472-4146

Publisher: BMJ Group

URL: https://doi.org/10.1136/jclinpath-2017-204629

DOI: 10.1136/jclinpath-2017-204629

PubMed id: 28899979


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