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标题：Aml1 Gene Rearrangements and Mutations in Radiation-Associated Acute Myeloid Leukemia and Myelodysplastic Syndromes
其他标题：Aml1 Gene Rearrangements and Mutations in Radiation-Associated Acute Myeloid Leukemia and Myelodysplastic Syndromes
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作者：Sergiy Klymenko ; Klaus TROTT ; Michael ATKINSON 等
期刊名称：Journal of Radiation Research
印刷版ISSN：0449-3060
电子版ISSN：1349-9157
出版年度：2005
卷号：46
期号：2
页码：249-255
DOI：10.1269/jrr.46.249
摘要：Several studies suggested a causal link between AML1 gene rearrangements and both radiation-induced acute myeloid leukaemia (AML) and myelodysplastic syndromes (MDS). Fifty-three AML samples were analyzed for the presence of AML1 abnormalities using fluorescent in-situ hybridization (FISH) and reverse transcription polymerase chain reaction (RT-PCR). Of these patients, 24 had experienced radiation exposure due to the Chernobyl accident, and 29 were non-irradiated spontaneous AML cases and served as controls. AML1/ETO translocations were found in 9 of 29 spontaneous AML but only in 1 of 24 radiation-associated AML cases. This difference between translocation frequencies is statistically significant in the age-unstratified cohorts ( p = 0.015). Following age stratification, the difference becomes less pronounced but remains on borderline significance ( p = 0.053). AML1 mutation status was assessed in 5 clean-up workers at Chernobyl NPP with MDS, or AML following MDS, by direct sequencing of genomic DNA from the coding region (exon 3 through 8). In one patient who developed MDS following an acute radiation syndrome, a hexanucleotide duplication of CGGCAT in exon 8 was found, inserted after base position 1502. Our results suggest that AML1 gene translocations are infrequent in radiation-induced leukemogenesis but are consistent with the idea that radiation may contribute to the development of MDS through AML1 gene mutation.
关键词：AML1 ; Acute myeloid leukaemia; Myelodysplastic syndromes; Ionizing radiation; Chernobyl accident