Investigation of NPM1 mutation measurable residual disease (MRD) in acute myeloid leukaemia (AML) for early detection of relapse to guide pre-emptive therapy

Outcome of acute myeloid leukaemia (AML, an aggressive blood cancer) after disease recurrence (“relapse”) is very poor. This thesis examines the use of sensitive marker (measurable residual disease, MRD) to detect early signs of returning AML before relapses in a subgroup of AML with NPM1 mutations (leukaemia associated DNA changes). Venetoclax is a new treatment recently approved to target the “BCL2” (cancer survival pathway). I showed that early NPM1 MRD-guided treatment before relapse, using venetoclax plus low dose cytarabine (chemotherapy), is highly effective and tolerable, and could become the new treatment approach in relapsing AML.