BCR-ABL1 kinase domain mutational analysis of CD34+ stem/progenitor cells in newly diagnosed CML patients by Next-Generation Sequencing

Mutations in the BCR-ABL1 kinase domain (KD) represent one of the most important causes of resistance to tyrosine kinase inhibitors (TKIs) treatment in patients with chronic myeloid leukemia (CML). The resistance-causing mutations are hypothesized to expand directly from the stem and/or progenitor cells and are present in CD341 cells significantly earlier than they occur in bone marrow or peripheral blood. Thus, early detection of these mutations is of great importance, since it can affect the subsequent TKI therapy.