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• W2970926647 abstract "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." @default.
• W2970926647 created "2019-09-05" @default.
• W2970926647 creator A5029582404 @default.
• W2970926647 creator A5066028521 @default.
• W2970926647 date "2019-08-31" @default.
• W2970926647 modified "2023-10-14" @default.
• W2970926647 title "Somatic <i>SF3B1</i> mutations in myelodysplastic syndrome with ring sideroblasts and chronic lymphocytic leukaemia" @default.
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• W2970926647 doi "https://doi.org/10.1136/jclinpath-2019-205895" @default.
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