title: Mutation Analysis of Isocitrate Dehydrogenase (IDH1/2) and DNA Methyltransferase 3A (DNMT3A) in Thai Patients with Newly Diagnosed Acute Myeloid Leukemia
abstract: Acute myeloid leukemia (AML) is a clonal hematopoietic stem/progenitor cell disorder which features several
  genetic mutations. Recurrent genetic alterations identified in AML are recognized as causes of the disease, finding
  application as diagnostic, prognostic and monitoring markers, with potential use as targets for cancer therapy. Here, we
  performed a pyrosequencing technique to investigate common mutations of IDH1, IDH2 and DNMT3A in 81 newly
  diagnosed AML patients. The prevalences of IDH1, IDH2 and DNMT3A mutations were 6.2%, 18.5%, and 7.4%,
  respectively. In addition, exclusive mutations in IDH1 codon 132 (R132H, R132C, R132G and R132S) were identified
  in all IDH1-mutated cases indicating that these are strongly associated with AML. Interestingly, higher median blast cell
  counts were significantly associated with IDH1/2 and DNMT3A mutations. In summary, we could establish a routine
  robust pyrosequencing method to detect common mutations in IDH1/2 and DNMT3A and demonstrate the frequency
  of those mutations in adult Thai AML patients.
authors.affiliation: Doctoral Program in Clinical Pathology, Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University. Bangkok, 10400, Thailand. Email:budsaba.rer@mahidol.ac.th
authors.forename: Tanasan
authors.initials: T
authors.lastname: Sirirat
authors.forename: Suporn
authors.initials: S
authors.lastname: Chuncharunee
authors.forename: Pimjai
authors.initials: P
authors.lastname: Nipaluk
authors.forename: Teerapong
authors.initials: T
authors.lastname: Siriboonpiputtana
authors.forename: Takol
authors.initials: T
authors.lastname: Chareonsirisuthigul
authors.forename: Nittaya
authors.initials: N
authors.lastname: Limsuwannachot
authors.forename: Budsaba
authors.initials: B
authors.lastname: Rerkamnuaychoke
keywords: Acute myeloid leukemia; isocitrate dehydrogenase; DNA methyltransferase; pyrosequencing