title: High frequency of AML1/RUNX1 point mutations in radiation-associated myelodysplastic syndrome around Semipalatinsk nuclear test site.
abstract: It is known that bone marrow is a sensitive organ to ionizing radiation, and many patients with acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS) have been diagnosed in radiation-treated cases and atomic bomb survivors in Hiroshima and Nagasaki. The AML1/RUNX1 gene has been known to be frequently mutated in MDS/AML patients among atomic bomb survivors and radiation therapy-related MDS/AML patients. In this study, we investigated the AML1 mutations in radiation-exposed patients with MDS/AML among the residents near the Semipalatinsk Nuclear Test Site (SNTS), where the risk of solid cancers and leukemias was increased due to the radiation effects. AML1 mutations were identified in 7 (39%) of 18 radiation-exposed MDS/AML patients. In contrast, no AML1 mutation was found in 13 unexposed MDS/AML cases. The frequency of AML1 mutations in radiation-exposed patients with MDS/AML was significantly higher compared with unexposed patients (p < 0.05).We also found a significant correlation between individual estimated doses and AML1 mutations (p < 0.05). Considering these results, AML1 point mutations might be a useful biomarker that differentiates radio-induced MDS/AML from spontaneous MDS/AML.
authors: Department of Radiation Biophysics, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima, Japan.
authors: Dinara
authors: D
authors: Zharlyganova
authors: Hironori
authors: H
authors: Harada
authors: Yuka
authors: Y
authors: Harada
authors: Sergey
authors: S
authors: Shinkarev
authors: Zhaxybay
authors: Z
authors: Zhumadilov
authors: Aigul
authors: A
authors: Zhunusova
authors: Naylya J
authors: NJ
authors: Tchaizhunusova
authors: Kazbek N
authors: KN
authors: Apsalikov
authors: Vadim
authors: V
authors: Kemaikin
authors: Kassym
authors: K
authors: Zhumadilov
authors: Noriyuki
authors: N
authors: Kawano
authors: Akiro
authors: A
authors: Kimura
authors: Masaharu
authors: M
authors: Hoshi
mesh_terms: D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D004781:Environmental Exposure / Q000032:analysis* / Q000706:statistics & numerical data*; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D015994:Incidence; D008297:Male; D009190:Myelodysplastic Syndromes / Q000453:epidemiology* / Q000235:genetics*; D009689:Nuclear Warfare; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011832:Radiation Injuries / Q000453:epidemiology* / Q000235:genetics*; D018570:Risk Assessment / Q000379:methods; D012307:Risk Factors; D014586:USSR / Q000453:epidemiology
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; C493728:RUNX1 protein, human