Onkológia 1/2019

Advances in molecular monitoring and the importance of screening BCR/ABL1 mutation for Ph-positive chronic myelocytic leukemia

Molecular monitoring of BCR/ABL 1 transcripts for patients with chronic myeloid leukemia (CML) is now used to assess response to tyrosine kinase inhibitors (TKI), including treatment failure that mandates a change of therapy. The last few years have witnessed the emergence of a new molecular response target, which is the achievement and maintenance of deep molecular response.Quantitative reverse-transcriptase-polymerase-chain-reaction (qRT-PCR) assessment of BCR-ABL1 transcript levels has become the standard of care protocol in CML. However, further developments are required to assess leukemic burden more efficiently, monitor minimal residual disease (MRD), detect mutations that drive resistance to tyrosine kinase inhibitor (TKI) therapy and identify predictors of response to TKI therapy. Cartridge-based BCR-ABL1quantitation, digital PCR and next generation sequencing (NGS) are examples of technologies which are currently being explored, evaluated and translated into the clinic. Here we review the emerging molecular methods/technologies currently being developed to advance molecular monitoring.

Keywords: chronic myeloid leukemia, molecular monitoring, BCR-ABL1, resistance, mutations, digital PCR, next generation sequencing