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

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Authors	ROMŽOVÁ Marianna SMITALOVÁ Dagmar TOM Nikola JURČEK Tomáš ČULEN Martin ŽÁČKOVÁ Daniela MAYER Jiří RÁČIL Zdeněk
Year of publication	2020
Type	Article in Periodical
Magazine / Source	British journal of haematology
MU Faculty or unit	Central European Institute of Technology
Citation
web	https://onlinelibrary.wiley.com/doi/full/10.1111/bjh.16382
Doi	http://dx.doi.org/10.1111/bjh.16382
Keywords	next generation sequencing; illumina; BCR-ABL1; kinase domain mutation; TKI resistance
Description	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.
Related projects:	Mutační analýza primitivních buněčných populací u chronické myeloidní leukémie: za hranicí BCR-ABL1