SF3B1 mutation analysis is performed by next-generation sequencing of all coding exons of the SF3B1 gene.
The splicing factor 3B subunit 1 gene (SF3B1) encodes part of the U2 small nuclear ribonucleoproteins complex involved in DNA damage repair. Mutations in SF3B1 are described in 15% of chronic lymphocytic leukemia (CLL) cases, particularly those with a deletion of the long arm of chromosome 11 (del11q), 28% of myelodysplastic syndrome (MDS) cases overall, and over 80% of MDS with ring sideroblasts (RS) cases. SF3B1 mutation is indicative of an intermediate risk prognosis in CLL, with poorer prognosis for those CLL patients with a co-occurrence of del(11q), but it is associated with a better prognosis in MDS, MDS/MPN-RS, and MDS/MPN-RS-T.
- Peripheral blood: 5 mL in EDTA tube.
- Bone marrow: 2 mL in EDTA tube.
- FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
Use cold pack for transport, making sure cold pack is not in direct contact with specimen.
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