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June 27, 2026Blood AdvancesOpen Access

Rapid and Reproducible Karyotyping with Long Read Sequencing in AML Patients

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Authors

MHMichael HeuserADAnna DolnikIAIsabell Arnhardt

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Overview

Randomized trial demonstrates rapid detection of chromosomal abnormalities in AML, suggesting improved treatment timelines.

Key Points

  • The aim is to evaluate a long-read sequencing approach for rapid karyotyping in acute myeloid leukemia patients.
  • Analyzed 100 diagnostic AML samples, including both retrospectively and prospectively enrolled cases.
  • Used long-read sequencing low-coverage whole genome sequencing with Oxford Nanopore Technology.
  • Validated reproducibility through replicate sequencing at independent laboratories.
  • LcWGS identified chromosomal aberrations with 93% sensitivity and specificity.
  • Median turnaround time for results was approximately 34 hours, with actionable results in under 72 hours.
  • Patients with complex karyotypes showed significantly shorter overall and relapse-free survival.

Cite This Study

Heuser et al. (2026) studied this question.

synapsesocial.com/papers/6a3f694caea7db3c19540273https://doi.org/10.1182/bloodadvances.2026019960
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