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

• Autoři: ROMŽOVÁ Marianna; SMITALOVÁ Dagmar; TOM Nikola; JURČEK Tomáš; ČULEN Martin; ŽÁČKOVÁ Daniela; MAYER Jiří; RÁČIL Zdeněk
• Rok publikování: 2020
• Druh: Článek v odborném periodiku
• Časopis / Zdroj: British journal of haematology
• Fakulta / Pracoviště MU: Středoevropský technologický institut
• www: https://onlinelibrary.wiley.com/doi/full/10.1111/bjh.16382
• Doi: http://dx.doi.org/10.1111/bjh.16382
• Klíčová slova: next generation sequencing; illumina; BCR-ABL1; kinase domain mutation; TKI resistance
• Popis: 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.

Související projekty

• Mutační analýza primitivních buněčných populací u chronické myeloidní leukémie: za hranicí BCR-ABL1