The Frequency of SF3B1 Mutations in Thai Patients with Myelodysplastic Syndrome

Document Type: Research Articles

Authors

1 Division of Hematology, Clinical Pathology Laboratory, HRH Princess Maha Chakri Sirindhorn Medical Center, Nakhon, Nayok,Thailand.

2 Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Prathumthani, Thailand.

3 Department of Medical Technology, Faculty of Allied Health Sciences, Thammasat University, Prathumthani, Thailand.

4 Department of Clinical Microscopy, Faculty of Medical Technology, Huacheiw Chalermprakiet University, Bangkok, Thailand.

5 Division of Hematology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Prathumthani, Thailand.

Abstract

Genetic mutations in genes encoding critical component of RNA splicing machinery including SF3B1 are frequently
identified 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 from
bone marrow samples of 72 newly diagnosed MDS patients. We found that 10 of 72 (14%) patients harbor SF3B1
missense 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 as
lower 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 SF3B1
mutations in Thai patients with different subtypes of MDS. SF3B1 mutations were predominantly occurred in MDS-RS
and considered as favourable prognosis value. This study further highlighted the clinical important of SF3B1 mutations
analysis for the classification of MDS.

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