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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 highlights the prominence of mutant SF3B1 in chronic myeloid leukemia and its relation to anemia.

Key Points

  • The presence of mutant SF3B1 likely preceded BCR::ABL1, leading to an MDS phenotype.
  • Hemoglobin levels fluctuated, with initial treatment showing only minimal change in disease indicators.
  • Single cell DNA sequencing identified 45% of cells with both mutations, indicating clonal dynamics in hematopoiesis.
  • Findings suggest mutant SF3B1 may affect myeloid cell proliferation, emphasizing distinct CML characteristics.

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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