Publication: The frequency of SF3B1 mutations in Thai patients with myelodysplastic syndrome
Issued Date
2018-07-01
Resource Type
ISSN
2476762X
15137368
15137368
Other identifier(s)
2-s2.0-85050399772
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Mahidol University
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SCOPUS
Bibliographic Citation
Asian Pacific Journal of Cancer Prevention. Vol.19, No.7 (2018), 1825-1831
Suggested Citation
Punchita Rujirachaivej, Teerapong Siriboonpiputtana, Budsaba Rerkamnuaychoke, Suthada Magmuang, Takol Chareonsirisuthigul, Paisarn Boonsakan, Sawang Petvises, Tanasan Sirirat, Pimjai Niparuck, Suporn Chuncharunee The frequency of SF3B1 mutations in Thai patients with myelodysplastic syndrome. Asian Pacific Journal of Cancer Prevention. Vol.19, No.7 (2018), 1825-1831. doi:10.22034/APJCP.2018.19.7.1825 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/45121
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Title
The frequency of SF3B1 mutations in Thai patients with myelodysplastic syndrome
Abstract
© 2018 Asian Pacific Organization for Cancer Prevention. 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 (195×10 9 /L VS. 140×10 9 /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.