Next generation sequencing – a science tool or routine pathology?

Czech version

Authors: Lenka Krsková ¹; Markéta Kalinová ¹; Tereza Němečková ¹; Barbora Šípalová ¹; Marcela Mrhalová ¹; Miroslav Koblížek ¹; Jan Balko ¹; Jaromír Háček ¹; Daniela Nováková-Kodetová ¹; Aleš Vícha ²; Petr Brož ^2,3; Michal Zápotocký ²; Edita Kabíčková ²; Josef Zámečník ¹
Authors‘ workplace: Ústav patologie a molekulární medicíny, 2. LF UK a FN Motol, Praha ¹; Klinika dětské hematologie a onkologie, 2. LF UK a FN Motol, Praha ²; Bioxsys s. r. o., Ústí nad Labem ³
Published in: Čes.-slov. Patol., 57, 2021, No. 3, p. 136-143
Category: Reviews Article

Overview

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.

Keywords:

next generation sequencing (NGS) – somatic mutations – Fusion genes – targeted therapy

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