129例成年人急性白血病染色体核型分析

The study on cytogenetics of 129 patients with acute leukemia in adult

目的探讨急性白血病(AL)的细胞遗传学改变,了解染色体核型异常与ALFAB分型的关系及其对预后因素的影响。方法129例AL患者于治疗前抽取骨髓标本,采用短期细胞培养法制备染色体标本,应用吉姆萨显带技术进行染色体核型分析。结果进行染色体检查的129例AL患者中,21例无分裂象,在108例可供染色体核型分析的患者中,染色体核型异常65例(60.2%);在急性淋巴细胞白血病(ALL)、急性髓细胞白血病(AML)和急性混合细胞白血病(AMLL)3种类型的白血病患者中,染色体核型异常分别为54.2%(13/24)、63.2%(48/76)和50.0%(4/8);在染色体核型异常的65例患者中,超二倍体9例(13.8%),亚二倍体12例(18.5%),假二倍体2例(3.1%),正常二倍体42例(64.6%)。与FAB分型相关的特异性染色体重排35例(AML26例、ALL8例、AMLL1例),占53.8%,而在AML、ALL和AMLL染色体核型异常的患者中,与FAB分型相关的特异性染色体重排分别为54.2%(26/48)、61.5%(8/13)和25.0%(1/4)。结论60%的AL存在克隆性染色体异常,一些特异性染色体异常改变是AL的细胞遗传学特征,与AL的FAB分型有明显相关性,不仅是诊断AL的重要依据,也是AL化疗和造血干细胞移植治疗后疗效观察、微小残留病(MRD)监测及判断预后和早期预测复发的重要指标。

Objective To investigate the cytogenetic abnormalities of acute leukemia,analyze the rela- tionship in the chromosomal abnormalities and the FAB types of acute leukemia,explore the impact of the chromosomal abnormalities on the prognostic factors of acute leukemia.Methods The chromosome kary- otypes of 129 patients with acute leukemia were analyzed by G banding technique.Results(1)In 108 of 129 patients could analyze the chromosome karyotypes,the chromosomal abnormalities occurred in 65 patients(60.2 percent).(2)In patients with acute lymphoblastic leukemia(ALL),acute myelogenous leukemia(AML)and acute mixed-lineage leukemia(AMLL),the chromosomal abnormalities occurred respectively in 13 of 24 patients (54.2 percent),48 of 76 patients(63.2 percent)and 4 of 8 patients(50.0 percent).(3)Hyperdiploids,hypo- diploids,pseudodiploids and diploids occurred respectively in 9 of 65 patients(13.8 percent),12 of 65 pa- tients(18.5 percent),2 of 65 patients(3.1 percent)and 42 of 65 patients(64.6 percent).The FAB type-asso- ciated chromosomal abnormalities occurred in 35 of 65 patients(53.8 percent)(26 patients with AML,8 pa- tients with ALL and one patients with AMLL),while in patients with AML,ALL and AMLL,the FAB type-as- sociated chromosomal abnormalities occurred respectively in 26 of 48 patients(54.2 percent),8 of 13 patients (61.5 percent)and one of 4 patients(25.0 percent).Conclusion There are chromosomal abnormalities in about 60 percent patients with acute leukemia.The FAB type-associated chromosomal abnormalities are useful not only for diagnosis of acute leukemia,but also for observing the treatment effects,detecting the minimal residual disease(MRD),evaluating the prognosis and predicting leukemia relapse in the early stage after the treatment with chemotherapy and hematopoietic stem cell transplantation(HSCT)for acute leukemia.