- Gene affected:
- SF3B1 - Splicing Factor 3b Subunit 1
- Clinical significance
- SF3B1 is strongly associated with ring sideroblasts in the bone marrow, and this knowledge has led to changes to the WHO Classification for Haematological Malignancy diagnostic criteria for Myelodysplasia with Ring Sideroblasts (MDS-RS). Splicing inhibitors are in early clinical trials including a specific SF3B1 inhibitor.
Function of gene
SF3B1 forms part of the spliceosome complex and is involved in transcription and mRNA processing. Spliceosome mutations are thought to promote malignancy through missplicing of genes involved in epigenetic regulation, transcription, and genome integrity.
NGS panel gene coverage
Context: Mutations in SF3B1 are strongly associated with JAK2 mutations in MDS/MPD-RS-T and MFS. They also have associations with CALR and MPL less frequently in these disorders.
- GeneWiki link: