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December 8, 2025Blood

Investigating suspected germline STAG2 variants in myeloid neoplasms

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Authors

SÜSerhan ÜnlüVVValeria VisconteAVAaron D. Viny

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Overview

Investigation reveals potential DNMT3A involvement in myeloid neoplasms, suggesting a need for further genomic evaluations.

Key Points

  • This research examines the role of germline STAG2 variants in myeloid neoplasms, focusing on whether these variants predispose individuals to cancer.
  • Analyzed a cohort of patients diagnosed with myeloid neoplasms for germline STAG2 variants.
  • Performed population-level frequency assessments using biobanks including UK Biobank.
  • Utilized genomic sequencing to confirm the presence of variants and their clinical associations.
  • Identified a total of 8 patients with suspected germline STAG2 variants.
  • Noted the presence of associated mutations in DNMT3A among other genes.
  • Observed variability in bone marrow blast percentages among patients at diagnosis.

Cite This Study

Ünlü et al. (2025) studied this question.

synapsesocial.com/papers/69362f6c4fa91c937236df93https://doi.org/10.1182/blood-2025-5609
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Also Consider

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

  1. 1Impact of cohesin complex gene mutations on clinical outcomes in Acute Myeloid Leukemia2025
  2. 2Germline alterations of hematopoietic growth factor receptors and maladaptive somatic genetic rescue leads to myeloid neoplasia2025
  3. 3Subunit-specific analysis of cohesin-mutant myeloid malignancies reveals distinct ontogeny and outcomes2024 · 16 citations
  4. 4Increased prevalence of alternative splicing in core-cohesin subunit mutated AML as compared to STAG2 mutated AML2025
  5. 5STAG1: Bridging the Gap Between Cohesin Complex and Epigenetic Machinery2026