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Splicing factor 3b subunit 1 mutation patterns and prognostic implications in myelodysplastic syndromes, acute

Chun Qiao1,2,3,4,5, Yi Xia2,3,4,5, Zhen Guo2,3,4,5

  • 1State Key Laboratory of Natural Medicines, China Pharmaceutical University, Nanjing, China.

Cancer
|July 22, 2025
PubMed

Insights

Specific Splicing Factor 3b Subunit 1 (SF3B1) variants impact outcomes in hematologic malignancies. The SF3B1 p.K700E mutation improves survival in myelodysplastic syndromes but worsens it in acute myeloid leukemia.

Area of Science:

  • Hematology
  • Oncology
  • Genetics

Background:

  • SF3B1 mutations are linked to hematologic cancers.
  • The clinical impact of specific SF3B1 variants is not well understood.

Purpose of the Study:

  • To investigate the clinicopathologic features, mutational profiles, and outcomes associated with SF3B1 variants in hematologic malignancies.
  • To determine the prognostic significance of distinct SF3B1 mutations.

Main Methods:

  • Analysis of 1691 patients with myelodysplastic syndromes (MDS), acute myeloid leukemia (AML), and chronic lymphocytic leukemia (CLL).
  • Evaluation of SF3B1 mutation status, specific variant frequencies (e.g., p.K700E, p.I704F), and co-mutated genes (TET2, ATM, TP53).
  • Kaplan-Meier and multivariable analyses to assess overall survival (OS) and progression-free survival (PFS).

Main Results:

  • SF3B1 mutations were found in 17.4% of MDS, 3.0% of AML, and 8.5% of CLL cases.
  • SF3B1 p.K700E was the most common variant, particularly in MDS (61.4%).
  • SF3B1 p.K700E improved OS and PFS in MDS but worsened them in AML. In CLL, p.I704F reduced OS, and p.K700E shortened time-to-treatment.

Conclusions:

  • Distinct SF3B1 variants have differential prognostic implications in hematologic malignancies.
  • Incorporating specific SF3B1 variants into prognostic models is crucial for patient stratification.
  • SF3B1 mutation status and variant type are important factors in predicting outcomes for MDS, AML, and CLL patients.
Abstract

Keywords:
acute myeloid leukemiachronic lymphocytic leukemiagene mutationmyelodysplastic syndromesprognosissplicing factor 3b subunit 1 (SF3B1)

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