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A review on the Idylla platform: towards the assessment of actionable genomic alterations in one day
  1. Arnaud Uguen1,2,
  2. Giancarlo Troncone3
  1. 1Department of Pathology, CHRU Brest, Brest, France
  2. 2Inserm U1053 BaRITOn, Bordeaux, France
  3. 3Department of Public Health, Anatomic Pathology Unit, University of Napoli Federico II, Napoli, Italy
  1. Correspondence to Dr Arnaud Uguen, Department of Pathology, University Hospital Morvan, Brest 29609, France; arnaud.uguen{at}chu-brest.fr

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Introduction

Cancer still represents a major cause of death in the world. In the last decades, a better understanding of the molecular bases of cancer initiation, progression and antitumour immunity response escape has led to the development of new therapeutic strategies. Indeed, targeted treatments against oncogenic proteins and immune-checkpoint inhibitors have considerably improved quality of life and treatment outcomes of patients with cancer. Thus, assessment of predictive biomarker is crucial. According to the US Food and Drug Administration, a companion diagnostic assay, which provides essential information for the safe and effective use of a corresponding drug, is a unique medical device. Conversely, in the European Union the same biomarker can be analysed by using different diagnostic platforms, with different advantages and drawbacks. Nevertheless, any commercially available diagnostic assay needs to achieve validation, for approval by the European Community for in vitro diagnostic use (CE-IVD).

Although the next-generation sequencing (NGS) of even whole exomes or genomes is today feasible in expert centres, currently only limited pieces of genomic information are clinically relevant for the therapeutic management of patients with advanced cancers. Indeed, besides clinical trials and experimental protocols, the list of predictive actionable genomic biomarkers is quite short to date. Relevant examples include in colorectal cancer mutations of KRAS and NRAS; in lung cancer, mutations of EGFR and rearrangements of ALK and ROS1; and in melanoma BRAF and NRAS mutations.1–8 Reflecting the requirements of expensive equipments, experience and skilled personnel, these mutational assays are often centralised in reference laboratories. The longer interval of time between test prescription and result delivery may delay the treatment of patients with advanced cancers, some of them suffering from acute deterioration and needing rapid therapeutic decisions. The Idylla system (Biocartis, Mechelen, Belgium) can be easily implemented in pathology laboratories to diagnose quickly and simply oncogenic mutations.9–26 This …

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