| Abstract: | Genetic mutations in genes encoding critical component of RNA splicing machinery including SF3B1 are frequentlyidentified and recognized as the pathogenesis in the development of myelodysplatic syndrome (MDS). In this study,PCR sequencings specific for SF3B1 exon 13, 14, 15, and 16 were performed to analyse genomic DNA isolated frombone marrow samples of 72 newly diagnosed MDS patients. We found that 10 of 72 (14%) patients harbor SF3B1missense mutations including E622D (1/72), R625C/G (2/72), H662Q (1/72), K666T (1/72), K700E (4/72) and G740E(1/72), respectively. Mutations were predominantly located on exon 14 and 15 of SF3B1 coding sequence. Interestingly,patients with SF3B1 mutations exhibited higher platelet counts (195×109/L VS. 140×109/L, p-value = 0.025) as well aslower hemoglobin levels (81 g/L VS. 92 g/L, p-value = 0.009) and associated with ring sideroblast phenotype (p-value< 0.001) when compared with patients without the SF3B1 mutation. In summary, we reported the frequency of SF3B1mutations in Thai patients with different subtypes of MDS. SF3B1 mutations were predominantly occurred in MDS-RSand considered as favourable prognosis value. This study further highlighted the clinical important of SF3B1 mutationsanalysis for the classification of MDS. |
