Novel Illumina‐based next generation sequencing approach with one‐round amplification provides early and reliable detection of BCR‐ABL1 kinase domain mutations in chronic myeloid leukemia. (9th February 2020)

• Record Type: Journal Article
• Authors: Romzova, Marianna; Smitalova, Dagmar; Tom, Nikola; Jurcek, Tomas; Culen, Martin; Zackova, Daniela; Mayer, Jiri; Racil, Zdenek
• Is Part Of: British journal of haematology. Volume 189:Number 3(2020)
• Page Start: 469
• Page End: 474
• Publication Date: 2020-02-09
• Subjects: next generation sequencing -- illumina -- BCR‐ABL1 -- kinase domain mutation -- TKI resistance; Hematology -- Periodicals; Blood -- Diseases -- Periodicals; 616.15
• DOI: 10.1111/bjh.16382
• Languages: English
• ISSNs: 0007-1048

Abstract

Summary: The occurrence of mutations in the BCR‐ABL1 kinase domain (KD) can lead to treatment resistance in chronic myeloid leukaemia patients. Nowadays, next‐generation sequencing (NGS) is an alternative method for the detection of kinase domain mutations, compared to routinely used Sanger sequencing, providing a higher sensitivity of mutation detection. However, in the protocols established so far multiple rounds of amplification limit reliable mutation detection to approximately 5% variant allele frequency. Here, we present a simplified, one‐round amplification NGS protocol for the Illumina platform, which offers a robust early detection of BCR‐ABL1 KD mutations with a reliable detection limit of 3% variant allele frequency.