In addition, this review highlights the critical role of SF3B1 as a potential biomarker of MDS in identifying disease phenotypes, promoting tumor progression, determining clinical features, and influencing tumor prognosis, demonstrates the therapeutic potential of targeting SF3B1 splicing factor mutations in MDS and provides new insights into the role of SF3B1 in MDS. The gene discussed is SF3B1; the disease is myelodysplastic syndrome.