The following is a summary of “Genomic DNA-based measurable residual disease monitoring in pediatric acute myeloid leukemia: unselected consecutive cohort study,” published in the November 2023 issue of Oncology by Zaliova et al.

Monitoring measurable residual disease (MRD) in childhood acute myeloid leukemia (AML) serves as a crucial tool for gauging treatment response and detecting potential relapses early. The conventional methods for assessing MRD in childhood AML, namely flow cytometry and quantitative detection of leukemia-specific abnormalities at the mRNA level, present notable limitations. Recently, researchers explored the feasibility of MRD monitoring using genomic DNA (gDNA) in specific AML subgroups. In this study, the study group aimed to extend this assessment to encompass all subtypes of AML in pediatric patients.

Their comprehensive analysis involved 133 consecutively diagnosed children. By integrating next-generation sequencing into the diagnostic framework, they successfully identified (presumed) primary genetic anomalies suitable as MRD targets in 97% of these patients. Subsequently, they devised patient-specific quantification assays and proceeded to monitor MRD in 122 children. Investigators achieved gDNA-based MRD monitoring by quantifying primary aberrations with a sensitivity of at least 10^-4 in 86% of patients. Additionally, they attained MRD monitoring in 8% of cases by quantifying secondary aberrations at a sensitivity level of 5 × 10^-4 or at the mRNA level.

Significantly, their findings unveiled that gDNA-based MRD holds independent predictive value, particularly in early time points for patients categorized into intermediate-/high-risk treatment groups. This suggests its potential as a prognostic marker guiding treatment strategies. Their study demonstrates the wide-ranging applicability, feasibility, and clinical relevance of gDNA-based MRD monitoring in childhood AML.

This research showcases the broad utility and importance of gDNA-based MRD monitoring across various AML subtypes in pediatric patients. The successful identification of suitable genetic aberrations and the subsequent development of patient-specific monitoring assays underscore the potential of gDNA-based MRD as a valuable prognostic indicator. These findings emphasize the significance of incorporating genomic approaches into MRD assessment, paving the way for more effective treatment strategies and improved outcomes in childhood AML.

Source: nature.com/articles/s41375-023-02083-9