Clinical performance evaluation of the Idylla NRAS-BRAF mutation test on retrospectively collected formalin-fixed paraffin-embedded colorectal cancer tissue
| Autor: | Ellen Vercauteren, Andrea Jane Lisgo, Tine Meyer, Michael Power, Ben Chaffey, Torben Steiniche, John Simpson, Angela Silmon, Philip Sloan, Liam Little, Anna Long, Louise Johnston |
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| Rok vydání: | 2017 |
| Předmět: |
Male
0301 basic medicine Neuroblastoma RAS viral oncogene homolog Oncology Tissue Fixation Colorectal cancer DNA Mutational Analysis Bioinformatics GTP Phosphohydrolases 0302 clinical medicine molecular pathology Medicine Digital polymerase chain reaction Aged 80 and over Membrane Proteins/analysis Paraffin Embedding Molecular pathology Proto-Oncogene Proteins B-raf/analysis General Medicine Middle Aged 030220 oncology & carcinogenesis Mutation (genetic algorithm) Original Article Female Colorectal Neoplasms Proto-Oncogene Proteins B-raf Adult GTP Phosphohydrolases/analysis medicine.medical_specialty Concordance DNA Mutational Analysis/methods colorectal cancer Real-Time Polymerase Chain Reaction/methods Real-Time Polymerase Chain Reaction Pathology and Forensic Medicine Young Adult 03 medical and health sciences molecular oncology Formaldehyde Internal medicine Humans Allele frequency Aged Retrospective Studies business.industry Gene Expression Profiling Membrane Proteins Cancer medicine.disease Colorectal Neoplasms/genetics 030104 developmental biology Gene Expression Profiling/methods business |
| Zdroj: | Johnston, L, Power, M, Sloan, P, Long, A, Silmon, A, Chaffey, B, Lisgo, A J, Little, L, Vercauteren, E, Steiniche, T, Meyer, T & Simpson, J 2018, ' Clinical performance evaluation of the Idylla NRAS-BRAF mutation test on retrospectively collected formalin-fixed paraffin-embedded colorectal cancer tissue ', Journal of Clinical Pathology, vol. 71, no. 4, pp. 336-343 . https://doi.org/10.1136/jclinpath-2017-204629 Journal of Clinical Pathology |
| ISSN: | 1472-4146 0021-9746 |
| DOI: | 10.1136/jclinpath-2017-204629 |
| Popis: | AimsUnderstanding 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.MethodsTwo-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.ResultsThe 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.ConclusionThese 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. |
| Databáze: | OpenAIRE |
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