Next generation sequencing - a science tool or routine pathology?
Jazyk angličtina Země Česko Médium print
Typ dokumentu časopisecké články
PubMed
34551560
PII: 128079
Knihovny.cz E-zdroje
- Klíčová slova
- Fusion genes, next generation sequencing (NGS), somatic mutations, targeted therapy,
- MeSH
- hybridizace in situ fluorescenční MeSH
- lidé MeSH
- multiplexová polymerázová řetězová reakce MeSH
- nádory * diagnóza genetika MeSH
- translokace genetická MeSH
- vysoce účinné nukleotidové sekvenování * MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
Molecular assays for translocation detection in different tumors have gradually been incorporated into routine diagnostics. However, conventional methods such as fluorescence in situ hybridization (FISH) and reverse transcriptase-PCR come with several drawbacks. Next-generation sequencing (NGS) can provide in-depth detection of numerous gene alterations. The anchored multiplex PCR assay proved to be a fast and easy-to-analyze approach for routine diagnostics laboratories. Next-generation sequencing-based anchored multiplex PCR technique (Archer FusionPlex Panels) is beneficial in both diagnosis for patient care and in identification of a novel fusion breakpoint in tumors. NGS is useful in identifying targetable molecular changes (point mutations, fusion genes, etc.) in tumors that can serve as a rationale for inclusion of patients with advanced disease in ongoing clinical trials and allow for better risk stratification.