551. Clinical Intervention Using NGS-Based Kinase Domain Mutation Testing in CML Patients
- Author
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Kizilors, Aytug, Harrington, Patrick, Jackson, Sophie, Lea, Nicholas, Newman, Joel, Gale, Richard, Hassan, Sandra, Dimitriadou, Evangelia, Crisà, Elena, Ficinski, Luke, Sa, Isabel, Arasaretnam, Anita, Dhanapal, Vijayavalli, Corbett, Timothy, Ireland, Robin M., Pagliuca, Antonio, Mufti, Ghulam J., and De Lavallade, Hugues
- Abstract
Kinase domain (KD) mutations in the BCR-ABL1 gene are associated with resistance to tyrosine kinase inhibitors (TKI) in chronic myeloid leukemia (CML). Next-generation Sequencing (NGS) allows detection of low-level KD mutations (<20% VAF), although the detection of true low level KD mutation can be challenging. We have previously reported an improved single round PCR based NGS method to ensure higher accuracy for clinical use (Kizilors et al. ASH 2015). To implement this improved assay in our routine clinical setting, we obtained ISO 15189 accreditation for NGS based BCR-ABL1 KD mutation detection.
- Published
- 2018
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