Measurable residual disease in acute myeloid leukemia

Acute myeloid leukemia (AML) is the most common form of acute leukemia. Unfortunately, the prognosis is poor, mostly due to high frequency of relapses using the current treatment strategies. Over the last years, it has become increasingly evident that the response to AML treatment, measurable residual disease (MRD), is a very strong prognostic factor. However, problems with standardization and applicability in individual patients hamper clinical usage of MRD analyses.

The overall aim of our research is to improve the basis for treatment decisions for children and adults with acute leukemia. We focus on improvement and usage of analyses of MRD. We have developed a novel analysis using next generation sequencing for MRD in AML based on the presence of leukemia-specific mutations; deep sequencing (deep seq). Our research has enabled clinical implementation of deep seq for MRD assessment in AML with mutation in NPM1. We currently evaluate the clinical usability of patient-tailored deep-seq for treatment response and for early detection of relapse. We are also working with more established methods for MRD analysis; flow cytometry and RT-qPCR, and how methods can be combined for improved understanding.

Our work is closely linked to the hematology diagnostics departments at Sahlgrenska University Hospital. We collaborate closely with clinical hematologists and pediatric oncologists and take active part in the Nordic Organization for Pediatric Hematology and Oncology, the Swedish AML group, and Genomics Medicine Sweden. Together with other hematology research groups at our institute, we aim for a fruitful hematological research environment and continuous translation of research results into clinical diagnostics.