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December 8, 2025BloodOpen Access

A case of co-mutation of SF3B1 and BCR::ABL1 demonstrating an MDS-phenotype

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Authors

VLVéronique LisiSDSvetlana Dmitrienko

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Overview

Case reveals SF3B1 and BCR::ABL1 co-mutation alters cell lineage in chronic myeloid leukemia, suggesting unique MDS characteristics.

Key Points

  • To clarify the clinical implications of co-mutations in SF3B1 and BCR::ABL1 in chronic myeloid leukemia and myelodysplastic syndrome.
  • Patient case study of a 74-year-old man with CML and SF3B1 mutation.
  • Whole genome sequencing was performed to identify genetic alterations.
  • Single-cell DNA sequencing provided insights into cell lineage and mutation prevalence.
  • Successful identification of co-mutation in patient with chronic myeloid leukemia and MDS.
  • Notable erythroid precursors and hematopoietic stem cells exhibited SF3B1 mutation presence.
  • Distinct differences in mutation representation across cell lineages were observed.

Cite This Study

Lisi et al. (2025) studied this question.

synapsesocial.com/papers/69362f7d4fa91c937236e4e9https://doi.org/10.1182/blood-2025-6761
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Also Consider

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

  1. 1Concurrent <i>SF3B1</i> Mutation and <i>BCR::ABL1</i> Demonstrating a Myelodysplastic Syndrome Phenotype: A Case Report2026
  2. 2Clinical characteristics and molecular profiling of SF3B1-mutated myelodysplastic syndrome (MDS) in a real-world practice2025
  3. 3Supplementary Figure S2 from Integrated genomic and transcriptomic analysis improves disease classification and risk stratification of MDS with ring sideroblasts.2024
  4. 4Supplementary Figure S2 from Integrated genomic and transcriptomic analysis improves disease classification and risk stratification of MDS with ring sideroblasts.2024
  5. 5Clinical Characteristics and Molecular Profiling of SF3B1-Mutated Myelodysplastic Syndrome (MDS) in a Real-World Practice2026