High Frequency of AML1/RUNX1 Point Mutations in Radiation-Associated Myelodysplastic Syndrome Around Semipalatinsk Nuclear Test Site

Dinara ZHARLYGANOVA; Hironori HARADA; Yuka HARADA; Sergey SHINKAREV; Zhaxybay ZHUMADILOV; Aigul ZHUNUSOVA; Naylya J. TCHAIZHUNUSOVA; Kazbek N. APSALIKOV; Vadim KEMAIKIN; Kassym ZHUMADILOV; Noriyuki KAWANO; Akiro KIMURA; Masaharu HOSHI

doi:10.1269/jrr.08040

Regular Papers

High Frequency of AML1/RUNX1 Point Mutations in Radiation-Associated Myelodysplastic Syndrome Around Semipalatinsk Nuclear Test Site

Dinara ZHARLYGANOVA, Hironori HARADA, Yuka HARADA, Sergey SHINKAREV, Zhaxybay ZHUMADILOV, Aigul ZHUNUSOVA, Naylya J. TCHAIZHUNUSOVA, Kazbek N. APSALIKOV, Vadim KEMAIKIN, Kassym ZHUMADILOV, Noriyuki KAWANO, Akiro KIMURA, Masaharu HOSHI

Author information

Dinara ZHARLYGANOVA
Department of Radiation Biophysics, Research Institute for Radiation Biology and Medicine, Hiroshima University
Hironori HARADA
Department of Hematology and Oncology, Research Institute for Radiation Biology and Medicine, Hiroshima University
Yuka HARADA
International Radiation Information Center, Research Institute for Radiation Biology and Medicine, Hiroshima University
Sergey SHINKAREV
State Research Center Institute of Biophysics, Federal Medical Biological Agenc
Zhaxybay ZHUMADILOV
Semipalatinsk State Medical Academy
Aigul ZHUNUSOVA
Semipalatinsk State Medical Academy
Naylya J. TCHAIZHUNUSOVA
Kazakh Scientific Research Institute for Radiation Medicine and Ecology
Kazbek N. APSALIKOV
Kazakh Scientific Research Institute for Radiation Medicine and Ecology
Vadim KEMAIKIN
Department of Hematology, Astana City Hospital
Kassym ZHUMADILOV
Department of Radiation Biophysics, Research Institute for Radiation Biology and Medicine, Hiroshima University
Noriyuki KAWANO
International Radiation Information Center, Research Institute for Radiation Biology and Medicine, Hiroshima University
Akiro KIMURA
Department of Hematology and Oncology, Research Institute for Radiation Biology and Medicine, Hiroshima University
Masaharu HOSHI
Department of Radiation Biophysics, Research Institute for Radiation Biology and Medicine, Hiroshima University

Keywords: AML1 point mutation, Semipalatinsk Nuclear Test Site, Myelodysplastic syndrome

JOURNAL FREE ACCESS

2008 Volume 49 Issue 5 Pages 549-555

DOI https://doi.org/10.1269/jrr.08040

View "Advance Publication" version (August 23, 2008).

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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.

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