PMID- 34551560 OWN - NLM STAT- MEDLINE DCOM- 20210924 LR - 20210924 IS - 1210-7875 (Print) IS - 1210-7875 (Linking) VI - 57 IP - 3 DP - 2021 Summer TI - Next generation sequencing - a science tool or routine pathology? PG - 136-143 AB - 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. FAU - Krskova, Lenka AU - Krskova L FAU - Kalinova, Marketa AU - Kalinova M FAU - Nemeckova, Tereza AU - Nemeckova T FAU - Sipalova, Barbora AU - Sipalova B FAU - Mrhalova, Marcela AU - Mrhalova M FAU - Koblizek, Miroslav AU - Koblizek M FAU - Balko, Jan AU - Balko J FAU - Hacek, Jaromir AU - Hacek J FAU - Novakova-Kodetova, Daniela AU - Novakova-Kodetova D FAU - Vicha, Ales AU - Vicha A FAU - Broz, Petr AU - Broz P FAU - Zapotocky, Michal AU - Zapotocky M FAU - Kabickova, Edita AU - Kabickova E FAU - Zamecnik, Josef AU - Zamecnik J LA - eng PT - Journal Article TT - Sekvenovani nove generace - nastroj vědy či rutinni patologie? PL - Czech Republic TA - Cesk Patol JT - Ceskoslovenska patologie JID - 0050734 SB - IM MH - *High-Throughput Nucleotide Sequencing MH - Humans MH - In Situ Hybridization, Fluorescence MH - Multiplex Polymerase Chain Reaction MH - *Neoplasms/diagnosis/genetics MH - Translocation, Genetic OTO - NOTNLM OT - Fusion genes OT - next generation sequencing (NGS) OT - somatic mutations OT - targeted therapy EDAT- 2021/09/24 06:00 MHDA- 2021/09/25 06:00 CRDT- 2021/09/23 05:29 PHST- 2021/09/23 05:29 [entrez] PHST- 2021/09/24 06:00 [pubmed] PHST- 2021/09/25 06:00 [medline] AID - 128079 [pii] PST - ppublish SO - Cesk Patol. 2021 Summer;57(3):136-143.