Minimal Residual Disease (MRD) Monitoring

The monitoring of minimal residual disease (MRD) enables to predict hematological relapse in advance and to start the treatment of patients still during their clinical and hematological remission. Detection of MRD is performed by real-time PCR monitoring of WT1 and mutated NPM1 expression levels. WT1 is a non-specific molecular MRD marker used in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS). Its expression has to be sufficiently high at diagnosis to allow sensitive detection of MRD in follow-up samples.

Mutations in NPM1 are specific molecular markers of MRD for AML patients. For those patients who do not have NPM1 mutation or sufficiently high expression of WT1 at diagnosis, we monitor the expression of leukemia associated antigens (LAAs) genes: PRAME, MSLN, XAGE-1/GAGED2, ST18, CSPG4, CA9, and the prognostic marker BAALC. According to our data, there is a prognostic impact of WT1 and mutated NPM1 expression levels at diagnosis and during the therapy. Especially, the accomplishment of molecular response  is connected with favourable outcome.