West Asia Organization for Cancer Prevention (WAOCP), APOCP's West Asia Chapter. Asian Pacific Journal of Cancer Prevention 1513-7368 19 7 2018 07 01 The Frequency of SF3B1 Mutations in Thai Patients with Myelodysplastic Syndrome 1825 1831 64833 10.22034/APJCP.2018.19.7.1825 EN Punchita Rujirachaivej Division of Hematology, Clinical Pathology Laboratory, HRH Princess Maha Chakri Sirindhorn Medical Center, Nakhon, Nayok,Thailand. Teerapong Siriboonpiputtana Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Prathumthani, Thailand. 0000-0002-5610-4306 Budsaba Rerkamnuaychoke Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Prathumthani, Thailand. Suthada Magmuang Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Prathumthani, Thailand. Takol Chareonsirisuthigul Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Prathumthani, Thailand. 0000-0003-3524-0349 Paisarn Boonsakan Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Prathumthani, Thailand. Sawang Petvises Department of Medical Technology, Faculty of Allied Health Sciences, Thammasat University, Prathumthani, Thailand. Tanasan Sirirat Department of Clinical Microscopy, Faculty of Medical Technology, Huacheiw Chalermprakiet University, Bangkok, Thailand. Pimjai Niparuck Division of Hematology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Prathumthani, Thailand. Suporn Chuncharunee Division of Hematology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Prathumthani, Thailand. Journal Article 2017 11 21 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. https://journal.waocp.org/article_64833_6610760fa1ba82f5dc546030c3b01326.pdf