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
Language English Country England, Great Britain Media print-electronic
Document type Journal Article, Research Support, Non-U.S. Gov't
Grant support
17-30397A
Ministry of Health - International
PubMed
32037516
DOI
10.1111/bjh.16382
Knihovny.cz E-resources
- Keywords
- BCR-ABL1, TKI resistance, illumina, kinase domain mutation, next generation sequencing,
- MeSH
- Fusion Proteins, bcr-abl genetics MeSH
- Leukemia, Myelogenous, Chronic, BCR-ABL Positive genetics MeSH
- Humans MeSH
- Mutation MeSH
- High-Throughput Nucleotide Sequencing methods MeSH
- Healthy Volunteers MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- Fusion Proteins, bcr-abl MeSH
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.
Department of Biochemistry Faculty of Medicine Masaryk University Brno Czech Republic
Internal Hematology and Oncology Clinic University Hospital Brno Brno Czech Republic
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