Next-Generation Sequencing in Tumor Diagnosis and Treatment

Abstract

Next-Generation Sequencing (NGS) allows for the sequencing of multiple genes at a very high depth of coverage [...]

Next generation sequencing in cytology

“…NGS is a fascinating technology that has dramatically changed the way molecular predictive medicine is carried out. Since its introduction, it has enabled cytopathology laboratories across the globe to assess vast arrays of different biomarkers in different patients simultaneously, starting from very low nucleic acid input 10‐12 . The implication of NGS for targeted treatments in patients with advanced‐stage cancers is enormous, when one considers that a high percentage of these patients have only scant cytological samples for morph‐molecular purposes 9 .…”

“…Since its introduction, it has enabled cytopathology laboratories across the globe to assess vast arrays of different biomarkers in different patients simultaneously, starting from very low nucleic acid input. 10 , 11 , 12 The implication of NGS for targeted treatments in patients with advanced‐stage cancers is enormous, when one considers that a high percentage of these patients have only scant cytological samples for morph‐molecular purposes. 9 To circumvent this problem, scientists have resorted to using various cytopreparations, with results that are highly suitable for NGS analysis.…”

“…The introduction of next generation sequencing (NGS) technologies has been instrumental in overcoming this limitation. 10 , 11 Indeed, NGS is a fascinating tool that enables cytopathologists to analyse different biomarkers simultaneously, even when the starting material features a low tumour content. 10 , 11 , 12 In particular, NGS technologies are based on three main sequencing approaches: by synthesis, by hybridisation, and by ligation.…”

“… 10 , 11 Indeed, NGS is a fascinating tool that enables cytopathologists to analyse different biomarkers simultaneously, even when the starting material features a low tumour content. 10 , 11 , 12 In particular, NGS technologies are based on three main sequencing approaches: by synthesis, by hybridisation, and by ligation. 13 In spite of these differences, all three approaches employ the same exact four‐step workflow: (a) library generation; (b) clonal amplification of the single generated fragments; (c) massive parallel sequencing, and (d) data analysis.…”

The Role of the Pathologist in the Next-Generation Era of Tumor Molecular Characterization

“…Recent advances have enabled the preparation of high-quality NGS libraries from low DNA input, including degraded samples, allowing the use of NGS platforms on a more routine basis [ 55 ]. At present, many custom NGS panels have being approved for clinical use in diagnostic pathology, providing a cost- and time-effective solution to perform a comprehensive molecular characterization [ 56 , 57 , 58 , 59 ].…”