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December 8, 2025BloodOpen Access

The presence of SH2B3 mutations identifies a distinct subtype of myelodysplastic neoplasms

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Authors

PAPamela AchaNANajla Al AliAMAlain Migeon

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Overview

Analysis reveals SH2B3 mutations improve leukemia-free survival in myelodysplastic neoplasms, suggesting unique clinical implications.

Key Points

  • MDS patients with SH2B3 mutations showed longer leukemia-free survival compared to non-mutated cases, highlighting improved outcomes.
  • In a cohort of 1,934 patients, SH2B3 mutations displayed significant prognostic implications for overall survival characteristics.
  • Analysis incorporated genomic sequencing and clinical data from MDS patients, assessing the impact of mutations and risk classifications.
  • The results indicate that SH2B3 mutations may define a unique category of MDS with potential for distinct treatment strategies.

Cite This Study

Acha et al. (2025) studied this question.

synapsesocial.com/papers/69362f4b4fa91c937236d797https://doi.org/10.1182/blood-2025-2070
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Also Consider

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

  1. 1Clinical characteristics and molecular profiling of SF3B1-mutated myelodysplastic syndrome (MDS) in a real-world practice2025
  2. 2Clinical characteristics and outcomes in patients with SH2B3-mutated erythrocytosis: A retrospective cohort study2025
  3. 3Germline variant database and visualization platform for BMF and hematologic malignancy predisposition syndromes: BMFgenes1.02025
  4. 4Additional myelodysplasia-related genes mutations affected the clinical presentations and prognosis of patients with SRSF2/TET2 co-mutations2025
  5. 5Not all that glitters is gold: A simple clinical score to unmask adverse SF3B1WT MDS-RS with low blast count2025