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December 8, 2025BloodOpen Access

Whole genome sequencing of cell-free DNA for assessment of minimal residual disease in high-risk smoldering multiple myeloma

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Authors

EHElizabeth HillBZBachisio ZicchedduTJTomáš Jelı́nek

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Overview

Interventional trial using whole genome sequencing detects minimal residual disease in plasma for high-risk smoldering myeloma, suggesting improved monitoring methods.

Key Points

  • To evaluate the effectiveness of whole genome sequencing of cell-free DNA for assessing minimal residual disease in patients with high-risk smoldering multiple myeloma.
  • Used whole genome sequencing of baseline marrow and plasma samples
  • Developed an ultra-sensitive tumor-informed detection approach (MRDetect)
  • Compared plasma MRD results with bone marrow assessments for accuracy
  • CFDNA WGS detected MRD+ in 93% of cases where marrow was positive
  • Increased baseline tumor fraction linked to disease progression
  • Five out of seven patients with disease progression were plasma MRD+ at end of therapy

Cite This Study

Hill et al. (2025) studied this question.

synapsesocial.com/papers/69362f714fa91c937236e1f8https://doi.org/10.1182/blood-2025-3920
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