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Detection of minimal residual disease in acute myeloid leukemia: evaluating utility and challenges

  • Writer: Altum Sequencing
    Altum Sequencing
  • Jun 4
  • 1 min read

FRONTIERS IN IMMUNOLOGY — 2024 


Álvarez N., et al.


This study evaluated liquid biopsy-based MRD monitoring in AML using cfDNA and NGS, highlighting both its potential and the technical challenges that remain. 


Topics

Hematologic malignancies · AML · MRD · CTCs · TRACKseq


Expanded summary

This brief research report explored the use of cell-free DNA from peripheral blood for MRD detection in acute myeloid leukemia. The study analyzed AML follow-up samples using NGS and compared cfDNA-based MRD assessment with circulating tumor cells and multiparameter flow cytometry. 


The workflow included 10 mL peripheral blood samples, cfDNA extraction, targeted NGS and patient-specific mutation tracking. A good correlation was observed between cfDNA and CTCs in paired samples, while cfDNA showed a higher tumor signal in the analyzed cohort, supporting its potential as a less invasive MRD source.


The study also emphasizes key challenges for AML liquid biopsy MRD, including marker selection, clonal hematopoiesis, biological interpretation and the need for further standardization. This makes it particularly valuable for positioning Altum as a scientifically rigorous platform rather than a single-test provider. 


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