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Somatic SF3B1 mutations in myelodysplastic syndrome with ring sideroblasts and chronic lymphocytic leukaemia
  1. Allister Foy,
  2. Mary Frances McMullin
  1. Haematology, Belfast Health and Social Care Trust, Belfast, UK
  1. Correspondence to Dr Allister Foy,Haematology, Belfast Health and Social Care Trust, Belfast, UK; allisterfoy{at}


SF3B1 is the largest subunit of the Spliceosome Factor 3b (SF3B) complex and part of the U2 small nuclear ribosomal protein. It functions as an important part of spliceosomal assembly, converting precursor messenger RNA (mRNA) to mRNA ready for ribosomal translation. Mutations of SF3B1 are commonly seen in myelodysplastic syndromes with ring sideroblasts (MDS-RS)and MDS/myeloproliferative neoplasm (MPN-RS-T). These mutations are typically heterozygous missense substitutions, of which, 55% involve K700E. MDS-RS and MDS/MPN-RS-T usually carry a more favourable prognosis than other subtypes of MDS. SF3B1 itself does not influence survival in these conditions, but does correlate with increased thrombotic risk. Mutated SF3B1 is present in 9%–15% of chronic lymphocytic leukaemia cases and on its own correlates with improved responsiveness to ibrutinib, but is associated with additional adverse genetic abnormalities including TP53 and ATM mutations, which traditionally confer adverse outcomes.

  • spliceosomes
  • cancer genetics
  • haematology
  • myelodysplasia
  • lymphoma

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  • Handling editor Tahir S Pillay.

  • Contributors AF & MFM conceived and planned the article. AF performed the literature review and drafted the work. MFM revised the article and gave approval for submission. AF made changes to the manuscript following reviewer comments. AF & MFM act as guarantors and controlled the decision to publish.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Provenance and peer review Commissioned; externally peer reviewed.

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