急性髓系白血病基因型的地域分布

The Regional Distribution of Genotypes of Acute Myeloid Leukemia

目的:总结全国多省市多医疗中心数据中急性髓系白血病常见3种突变基因在中国人群中的地域分布,包括CEBPA(CCAAT enhancer-binding protein alpha)、NPM1(Nucleophosmin)和FLT3-ITD(Fms-like tyrosine kinase3-Internal tandem duplications)。方法:对来自全国25家医院的879例急性髓系白血病(AML)成年患者的标本进行基因序列分析,针对上述3种基因进行突变检测。对所获得的数据按照中国北部、东部以及中西部等3个区域进行分析。结果:在北部、东部和中西部地区中,上述3个基因突变的发生率分别为8.9%、11.0%和13.1%,5.6%、7.7%和7.7%,9.0%、8.8%和13.2%。在上述地区发生FLT3-ITD突变的病例中,同时检测出NPM1或者CEBPA突变病例的比例分别为11.5%和20.0%、23.1%和0%,43.9%和25.0%。结论:本研究发现FLT3-ITD、NPM1和CEBPA基因突变的发生率在中国三个地理间十分不同。东部地区AML患者中3个被检测的基因突变发生率都是最低。并且在该人群中,未发现同时发生FLT3-ITD和NPM1基因突变的患者,与全国整体数据以及其他两个地区的结果有很大差异。

Objective： To research and explore the regional distribution of the three common gene mutation of acute myeloid leukaemia Chinese population with the data obtained from many nationwide medical centers in different provinces and cities, including the NPM1 （nucleophosmin） , CEBPA （ CCAAT enhancer - binding protein alpha） and flt3-itd （ like tyrosine kinase 3- Internal tandem duplications）. Methods： Gene sequence analysis were employed to analyze the specimens of 879 cases of acute myeloid leukemia （AML） obtained from 25 hospitals in the country according to the above three kinds of gene mutation detection. The data obtained were analyzed in accordance with the three regional distributions in north, east and central and west China. Results： The occurrence rates of the gene mutations were 8.9% , 11% andl3.1% in northern area, 13.2%, 7.7%, and 7.7% in eastern area, 8.8%, 9% and 5.6%, in central and western China. In the cases of FLT3-ITD mutations in those regions, the proportion of patients with NPM1 or CEBPA mutations was 11.5% and 23.1%, 20% and 0%, 43.9% and 25%. Conclusions： The incidences of mutations in CEBPA, NPM1 and FLT3-ITD are very different in the three regions of China. The incidence of mutationsof the AML patients in the eastern region is the lowest. There are no patients with FLT3-ITD and NPM1 mutations at the same time among population in this area. The results of the whole data and other two regions are very different from the whole country. It has significant differences compared with the overall data of the whole country ant those of the other two parts of the country.