Les méthodes de séquençage de « nouvelle génération » (NGS) et le cancer broncho-pulmonaire: principales technologies, applications et limites actuelles en pathologie

Substantial advances have been made in understanding molecular and cellular mechanisms driving tumor initiation and progression in non-small-cell lung cancer (NSCLC). Over the last decade, these findings have led to the discovery of a variety of molecular targets and the development of targeted therapies. This approach is currently best exemplified by treating patients with NSCLC with first-line tyrosine kinase inhibitors when their cancers harbor gain-of-function hotspot mutations in the epidermal growth factor receptor (EGFR) gene or anaplastic lymphoma kinase (ALK) gene rearrangements. As cancer is a complex disease driven by heritable or somatic mutations, new DNA sequencing technologies will have a significant impact on the detection, management and treatment of cancer. Next-generation sequencing is enabling the catalogue the genomic landscape of thousands of cancer genomes. These discoveries will ultimately lead to a better understanding of disease pathogenesis, bridging to a new era of molecular pathology and personalised medicine. Many molecular pathology laboratories are now considering the sequencing platforms, methods and additional equipment required for making the transition to NGS. Here we review the current status of NGS technologies, challenges and applications with special consideration given to the development of clinical sequencing.