Abstract
Treatment of colorectal cancer (CRC) with monoclonal antibodies against epidermal growth factor receptor requires the assessment of the mutational status of exons 2, 3, and 4 of the NRAS and KRAS oncogenes. Moreover, the mutational status of exon 15 of the BRAF oncogene is a marker of poor prognosis in CRC. The Idylla NRAS-BRAF Mutation Test is a reliable, simple (<2 minutes hands-on time), and quick (<2 hours turnaround time) sample-to-result solution, enabling the detection of clinically relevant mutations in NRAS (18 mutations) and BRAF (5 mutations). A multicenter study was conducted in 14 centers using the Idylla NRAS-BRAF Mutation Test to assess the NRAS and BRAF mutational status of 418 formalin-fixed, paraffin-embedded tissue samples from CRC patients. Results were compared with those obtained earlier by routine reference methods, including next-generation sequencing, pyrosequencing, mass spectrometry–based assays, PCR-based assays, and Sanger sequencing. In case of discordance, additional tests were performed by digital droplet PCR. Overall, after testing confirmation and excluding invalids/errors by design, concordances between the Idylla NRAS-BRAF Mutation Test and the reference test results were found in almost perfect agreement. In conclusion, the Idylla NRAS-BRAF Mutation Test enables the routine detection of all NRAS and BRAF mutations deemed clinically relevant according to the latest clinical guidelines, without necessitating molecular expertise or infrastructure.
Original language | English |
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Pages (from-to) | 664-676 |
Number of pages | 13 |
Journal | Journal of Molecular Diagnostics |
Volume | 20 |
Issue number | 5 |
DOIs | |
State | Published - Sep 2018 |
Externally published | Yes |
Bibliographical note
Publisher Copyright:© 2018 American Society for Investigative Pathology and the Association for Molecular Pathology
Funding
Supported by each clinical center; work at Vitagénesis, SA de CV (Monterrey, Mexico), was supported by the Fund for Technology Innovation Pharmacogenetics and Precision Medicine grant CONACyT 260826; work at Fundación Jiménez Díaz University Hospital was supported by Institute of Health Carlos III (CIBERONC grants PI15/00934 and PT17/0015/0006). Idylla NRAS-BRAF Mutation Test cartridges were provided by Biocartis.
Funders | Funder number |
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Instituto de Salud Carlos III | PI15/00934, PT17/0015/0006 |
Consejo Nacional de Ciencia y Tecnología | 260826 |