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December 8, 2025BloodOpen Access

Sensitive detection of novel structural variants and 3D chromosome conformation reveals likely novel drivers including enhancer hijacking in AML

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Authors

TKThomas KöhnkeAEAsiri EdiriwickremaCTCharu Tiwari

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Overview

Analysis identifies genetic alterations in AML, suggesting new drivers may influence disease outcomes.

Key Points

  • New mutations linked to gene expression dysregulation were observed, highlighting potential drivers in AML.
  • Copy number variation and structural variants were detected in a cohort lacking known driver mutations in AML.
  • Using a novel proximity ligation method and RNA-Sequencing, comprehensive genetic alterations were characterized.
  • Findings suggest the need to reevaluate AML’s genomic landscape for previously undetected mutations.

Cite This Study

Köhnke et al. (2025) studied this question.

synapsesocial.com/papers/69362f6c4fa91c937236e04bhttps://doi.org/10.1182/blood-2025-5257
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  2. 2Sparse whole genome sequencing and machine learning of AML genomes reveals novel, clinically relevant genetics.2025 · 1 citations
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  4. 4Long-read profiling of structural variants reveals mechanisms of chemo-resistance and prognostic heterogeneity in acute lymphoblastic leukemia2025 · 1 citations
  5. 5Development and clinical evaluation of a cost-effective method with capillary electrophoresis sequencer-based fragment analysis assay panel for genetic classification and risk stratification in de novo AML2025