High frequency of AML1/RUNX1 point mutations in radiation-associated myelodysplastic syndrome around Semipalatinsk nuclear test site.
High frequency of AML1/RUNX1 point mutations in radiation-associated myelodysplastic syndrome around Semipalatinsk nuclear test site.
复制标题
DOI：
10.1269/jrr.08040
复制
发表时间：
2008-09
影响因子：
2
通讯作者：
D. Zharlyganova;H. Harada;Y. Harada;S. Shinkarev;Z. Zhumadilov;Aigul Zhunusova;Naylya J Tchaizhunusova-Naylya-J-Tchaizhunu
中科院分区：
文献类型：
--
作者：
D. Zharlyganova;H. Harada;Y. Harada;S. Shinkarev;Z. Zhumadilov;Aigul Zhunusova;Naylya J Tchaizhunusova-Naylya-J-Tchaizhunu
众所周知，骨髓是对电离辐射敏感的器官，在广岛和长崎的放射治疗病例和原子弹爆炸幸存者中诊断出许多急性髓性白血病（AML）或骨髓增生异常综合征（MDS）患者。已知AML 1/RUNX 1基因在原子弹幸存者和放射治疗相关的MDS/AML患者中频繁突变。在这项研究中，我们调查了塞米巴拉金斯克核试验场（SNTS）附近居民中辐射暴露的MDS/AML患者的AML 1突变，由于辐射效应，固体癌症和白血病的风险增加。在18例放射暴露的MDS/AML患者中，有7例（39%）发现了AML 1突变。而13例未暴露的MDS/AML患者中未发现AML 1突变。AML/MDS患者中AML 1基因突变频率显著高于未接受放射治疗的患者（p < 0.05），AML 1基因突变与个体估计剂量之间存在显著相关性（p < 0.05）。考虑到这些结果，AML 1点突变可能是区分放射诱导的MDS/AML与自发性MDS/AML的有用生物标志物。
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.