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

Research output: Contribution to journalArticlepeer-review

19 Citations (Scopus)

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 unex-posed 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 AMLl 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.

Original languageEnglish
Pages (from-to)549-555
Number of pages7
JournalJournal of Radiation Research
Volume49
Issue number5
DOIs
Publication statusPublished - 2008
Externally publishedYes

Keywords

  • AML1 point mutation
  • Myelodysplastic syndrome
  • Semipalatinsk nuclear test site

ASJC Scopus subject areas

  • Radiation
  • Radiology Nuclear Medicine and imaging
  • Health, Toxicology and Mutagenesis

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