Emerging diagnostic and therapeutic approaches in core binding factor acute myeloid leukaemia

In acute myeloid leukaemia (AML), the presence of t(8;21)(q22;q22) and inv(16)(p13q22)/t(16;16)(p13;q22) and/or the corresponding molecular rearrangements RUNX1/RUNX1T1 and CBFB/MYH11 [collectively referred to as core binding factor (CBF) AML] predict for a more favourable outcome in patients receiving cytarabine-anthracycline based induction and upon achievement of complete remission, high-dose cytarabine consolidation chemotherapy. However, 40-45% of these patients eventually relapse and die of their disease. Here, we review emerging molecular and therapeutic results that may be used to guide the clinical management of this subset of patients.

Integration of cytogenetic results with molecular genetic and epigenetic data refines the diagnosis, classification and risk-stratification of CBF AML. Clinical studies with targeting compounds (e.g. gemtuzumab ozogamicin, dasatinib) added to intensive chemotherapy appear beneficial both in younger and older patients, albeit the latter continue to have a significantly worse outcome than the former. Regularly molecular monitoring of disease during remission may provide a strategy for early therapeutic intervention before overt relapse.

Emerging evidence supports that novel diagnostic, treatment and molecular disease monitoring approaches may improve the prognosis of CBF AML.