摘要目的 分析合并不同染色体核型的初治原发性急性髓系白血病(acute myeloid leukemia,AML)患者的临床特点.方法 回顾144例患者的临床资料,其中男性76例,女性68例,中位年龄为41.5岁,年龄四分位间距为25.25～53.75岁.根据细胞遗传学预后分层标准,将患者分为预后良好(good prognosis,GP)组(55例)、预后中等(moderate prognosis,MP)组(71例)和预后不良(poor prognosis,PP)组(18例),其中PP组又分为复杂核型(complex karyotype,CK)组(15例)和非复杂核型(non-complexkaryotype,NCK)组(3例),以及单体核型(monosomal karyotype,MK)组(9例)和非单体核型(nonmonosomal karyotype,NMK)组(9例).分别采用≠检验、秩和检验或卡方检验比较各组患者临床特征的差异.结果 染色体核型GP、MP和PP组间AML的FAB分型亚型构成及NPM1与CSF1R基因突变的构成不同,差异有统计学意义(x2值分别为125.444,15.538和7.049,P值均＜0.05);PP组中CK组与NCK型组相比,骨髓中原始细胞比例和外周血血小板计数偏低,差异有统计学意义(t值分别为-3.059和-2.830,P值均＜0.05);MK组和NMK组相比外周血红细胞计数和血红蛋白偏低,差异有统计学意义(t值分别为-3.764和-3.384,P值均＜0.05).结论 染色体GP核型初治原发AML多为伴有重现性遗传的M2b和M3;MP核型初治原发AML患者多为WHO分型中AML-NOS中的M1、M2a和M5,且易合并NPM1基因突变;PP核型初治原发AML多为WHO分型中AML-NOS中的M2a和伴有重现性遗传的M5,且易合并CSF1R基因突变;PP组中CK与NCK患者相比有较低的骨髓原始细胞比例和外周血血小板,MK与NMK核型相比有较低的外周血红细胞计数和血红蛋白水平.

abstractsObjective To explore clinical features of patients with de novo primary acute myeloid leukemia (AML) and various chromosomal karyotypes.Methods Clinical data of 144 patients was retrospectively reviewed.The patients included 76 males and 68 females,with a median age of 41.5 years and inter-quartile ranging from 25.25 to 53.75 years.Based on cytogenetic prognostic stratification criteria,the patients were divided into good prognosis (GP group,55 cases),moderate prognosis (MP group,71 cases) and poor prognosis (PP group,18 cases).The PP group was further divided into complex karyotype (CK group,15 cases) and non-complex karyotype (NCK group,3 cases),or monosomy karyotype (MK group,9 cases) and non-monosomy karyotype (NMK group,9 cases).All data was analyzed by Student's test,Chi-square test or rank sum test based on the type of data.Results Comparing the clinical data between GP,MP and PP group,there were statistically significant differences in the components of the FAB classification and the mutation of NPM1 and CSF1R genes (x2 =125.444,15.538 and 7.049,P＜0.05).Compared with the NCK group,the CK group had significantly fewer primitive cells in their bone marrow and fewer platelet in their peripheral blood (t=-3.059 and-2.830,P＜0.05).Compared with the NMK group,the MK group had significantly fewer red blood cells and lower hemoglobin in their peripheral blood (t=-3.764 and-3.384,P＜0.05).Conclusion For patient with de novo primary AML,those with GP chromosome are more likely to be M2b or M3 with recurrent genetic abnormalities,the MP ones are more likely to be M1,M2a or M5 of AML-NOS based on WHO classification and associate with NPM1 mutations,while the PP ones are more likely to be M2a of AML-NOS based on WHO classification and M5 with recurrent genetic abnormalities and associate with CSF1R mutations.Compared with those with NCK chromosomes,the CK ones have lower proportion of primitive cells in their bone marrow and fewer platelets in peripheral blood.Compared with those with NMK chromosomes,the MK ones have lower red blood cell count and hemoglobin in their peripheral blood.