Characterization and monitoring by droplet digital PCR of a novel BCR-ABL1 fusion transcript in a patient with chronic myeloid leukemia

Abstract

Chronic myeloid leukemia (CML) is characterized by the t(9;22) (q34;q11) translocation which leads to the generation of the BCR-ABL1 protein with constitutive tyrosine kinase activity. BCR-ABL1 is the molecular marker for the evaluation of minimal residual disease (MRD) and its levels throughout the follow up define the depth of molecular remission and guide clinical decisions like change of tyrosine-kinase inhibitor (TKI) or, more recently, discontinuation of therapy [1].