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December 8, 2025BloodOpen Access

Impact of cohesin complex gene mutations on clinical outcomes in Acute Myeloid Leukemia

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Authors

MAMoath AlbliwiJHJohn HannaDNDaniel Paul Nurse

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Overview

Retrospective cohort analysis reveals gene mutations impact response rates and survival outcomes in AML patients, highlighting potential prognostic significance.

Key Points

  • This research aims to investigate the impact of cohesin complex gene mutations on clinical outcomes in patients with acute myeloid leukemia (AML).
  • Conducted a retrospective cohort study of adult patients with newly diagnosed AML from 2015 to 2023.
  • Determined gene mutation status for SMC1A, SMC3, RAD21, and STAG2 using Next-Generation Sequencing.
  • Evaluated overall survival, event-free survival, and treatment response rates using multivariable Cox and logistic regression models.
  • STAG2 was the most common mutation found, followed by SMC1A, SMC3, and RAD21.
  • Patients with SMC1A mutations showed better cytogenetic responses compared to wild-type.
  • RAD21 mutations showed a trend toward improved overall survival while associated outcomes varied among different mutations.

Cite This Study

Albliwi et al. (2025) studied this question.

synapsesocial.com/papers/69362f3a4fa91c937236d3cbhttps://doi.org/10.1182/blood-2025-4626
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Subunit-specific analysis of cohesin-mutant myeloid malignancies reveals distinct ontogeny and outcomes2024 · 16 citations
  2. 2Increased prevalence of alternative splicing in core-cohesin subunit mutated AML as compared to STAG2 mutated AML2025
  3. 3Computational Analysis of Cohesin Complex Genes and their Role in the Pathogenesis of AML2024 · 1 citations
  4. 4Additional myelodysplasia-related genes mutations affected the clinical presentations and prognosis of patients with SRSF2/TET2 co-mutations2025
  5. 5Epigenetic dysregulation of the polycomb axis in Acute Myeloid Leukemia: Clinical and prognostic correlates2025