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Challenges and opportunities of next-generation sequencing: a cytopathologist's perspective
- Source :
- Cytopathology : official journal of the British Society for Clinical Cytology. 26(5)
- Publication Year :
- 2015
-
Abstract
- Molecular cytopathology has gene sequencing as its core technology. Until recently, cytological samples were only tested by sequential single-gene mutational tests. Today, with the better understanding of the molecular events involved in malignancy and the mechanisms of pharmacotherapy, larger gene panels are more informative than a single biomarker. Next-generation sequencing (NGS), matched with the multiplex capture of targeted gene regions and analysed by sophisticated bioinformatics tools, enables the simultaneous detection of multiple mutations in multiple genes. With the development of miniaturised technology and benchtop sequencers, it is not unlikely that NGS will soon be adopted for routine molecular diagnostics, including cytological samples. This review addresses (1) the most relevant methodological and technical aspects of the NGS analysis workflow and the diverse platforms available; (2) the issues related to daily practice implementation, namely, the cytological sample requirement and the validation procedures; and (3) the opportunities that NGS offers in different fields of cytopathology, to increase mutation detection sensitivity in paucicellular smears and to extend the analysis to a larger number of gene regions. Cytopathologists involvement and coordination in this rapidly evolving field is crucial for the effective implementation of NGS in the present and future cytological practice.
- Subjects :
- Histology
Molecular Cytopathology
Computational biology
Biology
Bioinformatics
Ion Torrent
DNA sequencing
Pathology and Forensic Medicine
Illumina
Daily practice
Gene panel
Humans
Multiplex
Mutation detection
Pathology, Molecular
fine needle aspiration
Computational Biology
High-Throughput Nucleotide Sequencing
General Medicine
Ion semiconductor sequencing
Molecular diagnostics
targeted therapy
Workflow
Mutation
454 NGS
Next-generation sequencing
cytology
Biomarkers
Subjects
Details
- ISSN :
- 13652303
- Volume :
- 26
- Issue :
- 5
- Database :
- OpenAIRE
- Journal :
- Cytopathology : official journal of the British Society for Clinical Cytology
- Accession number :
- edsair.doi.dedup.....8ff2b684f1b4ed6b6b23ab5b266ff6ee