Next generation sequencing - a science tool or routine pathology?

Autor: Krsková L, Kalinová M, Němečková T, Šípalová B, Mrhalová M, Koblížek M, Balko J, Háček J, Nováková-Kodetová D, Vícha A, Brož P, Zápotocký M, Kabíčková E, Zámečník J
Jazyk: angličtina
Zdroj: Ceskoslovenska patologie [Cesk Patol] 2021 Summer; Vol. 57 (3), pp. 136-143.
Abstrakt: 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.
Databáze: MEDLINE