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December 8, 2025Blood

Increased prevalence of alternative splicing in core-cohesin subunit mutated AML as compared to STAG2 mutated AML

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Authors

JMJosiah MurrayLBLauren BanaagKKKhanmi Kasomva

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Overview

Findings reveal increased alternative splicing in core-cohesin mutated AML, suggesting distinct pathways in disease biology.

Key Points

  • Increased alternative splicing occurs in acute myeloid leukemia (AML) with core-cohesin mutations compared to STAG2.
  • Analysis of RNA sequencing identified significant alternative splicing events linked to altered gene expression and cohesin occupancy.
  • Cohesin mutations, especially in RAD21 and SMC3, demonstrate unique impacts on transcription and genomic positioning in AML cells.
  • Elevated splicing events may have therapeutic implications for AML treatment strategies involving targeted inhibitors.

Cite This Study

Murray et al. (2025) studied this question.

synapsesocial.com/papers/69362f3d4fa91c937236d4b9https://doi.org/10.1182/blood-2025-3246
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Also Consider

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  1. 1Impact of cohesin complex gene mutations on clinical outcomes in Acute Myeloid Leukemia2025
  2. 2Enhanced FLI1 accessibility mediates STAG2-mutant leukemogenesis2025
  3. 3SF3B1 mutations K700E, K666N, and R625H: Gene expression and aberrant splicing consequences2025
  4. 4A Unifying Mechanism for Shared Splicing Aberrations in Splicing Factor Mutant Cancers2025
  5. 5Investigating suspected germline STAG2 variants in myeloid neoplasms2025