The Frequency of SF3B1 Mutations in Thai Patients with Myelodysplastic Syndrome

Abstract

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