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.

METASTATIC disease to the ureter secondary to tumour outside the genito-urinary system is rare. A review of the literature reveals less than 100 cases reported (Stow

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The rapidly developing field of personalized or precision medicine is moving clinical practice towards a new paradigm centred on ‘right patient – right medication – right time'. Such information is obtained through analysis of biomarkers, usually specific proteins or DNA sequences. To expand the range of conditions in which a precision approach can be used, it is vital that new biomarkers continue to be discovered and qualified as having clinical utility. Once this is achieved, it is just as important that clinically validated assays to measure these biomarkers are made available to clinical groups to guide prescribing practice.