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December 8, 2025Blood

Clinical outcomes in spliceosome-mutant myelodysplastic neoplasms and Acute Myeloid Leukemia

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Authors

SPShyam A. Patel

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Overview

Observational study finds spliceosome mutations affect survival in 97 patients with myelodysplastic neoplasms and AML, suggesting treatment insights.

Key Points

  • Evaluate the impact of spliceosome mutations on survival outcomes in myelodysplastic neoplasms and acute myeloid leukemia.
  • Conducted an observational study of 97 patients with spliceosome mutations from the UMass Chan Leukemia Registry.
  • Included patients with overt myeloid neoplasm and excluded those with clonal hematopoiesis involving spliceosome mutations.
  • Collected clinical data on demographics, treatment type, and outcomes longitudinally.
  • Analyzed outcomes based on therapy type and time-to-event endpoints, including overall survival.
  • Median overall survival (OS) for the cohort was 29 months.
  • U2AF1 mutation had the shortest median OS of 15 months and SF3B1 had the longest at 52 months, but differences were not significant.
  • Median OS for patients treated with HMA, cytotoxic chemotherapy, and targeted therapies were 18, 20, and 71 months, respectively, with no significant differences based on treatment type.

Cite This Study

Shyam A. Patel (2025) studied this question.

synapsesocial.com/papers/69362f364fa91c937236d2bahttps://doi.org/10.1182/blood-2025-7038
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Also Consider

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  1. 1Spliceosome mutations in AML: Prevalence, clinical features, and treatment outcomes in a contemporary cohort2025 · 1 citations
  2. 2Splicing factor mutations clearance and outcomes in clonal myeloid neoplasms: a referral center experience2026
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  4. 4Abstract P03: Splicing factor mutations induce stress granule upregulation in myeloid malignancies2024
  5. 5Long-read transcriptome sequencing of CLL and MDS patients uncovers molecular effects of SF3B1 mutations2024