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

Warning

This publication doesn't include Institute of Computer Science. It includes Central European Institute of Technology. Official publication website can be found on muni.cz.

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	https://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