【摘要】 目的应用细胞遗传学分析方法研究急性白血病(AL)染色体异常特征,结合临床评价细胞遗传学对AL诊治和判断预后的价值。方法采用直接法和短期培养法制备骨髓细胞染色体,并以R显带为主、G显带为辅对76例AL患者进行染色体核型分析,并观察疾病的诊治及转归情况。结果76例急性白血病细胞核型异常检出率为55%(42/76),初发病例异常核型31例,检出率61%(31/51),缓解病例异常核型5例,检出率31%(5/16);对52例患者随访中发现:核型正常16例,其中13例(81%)达缓解,2例(15%)复发;核型异常36例中22例(61%)达缓解,8例(36%)复发(P<0.05),核型正常组缓解率明显高于核型异常组,复发率明显低于核型异常组;核型正常、超二倍体及t(15;17)易位者疗效较好,而伴-7/7q-、t(9;22)、t(4;11)、t(9;11)、t(1;19)易位者疗效较差;缓解期染色体仍为异常核型者常复发,继发性染色体改变常预示病情恶化。结论半数以上AL患者可检出克隆性染色体异常且主要为特异性染色体重排,它们和特定的FAB亚型相关;细胞遗传学改变与预后的关系密切,是影响白血病预后的独立性因素。更多还原

【Abstract】 Aim To investigate the chromosome abnormalities in leukemia,and to evaluate the value of cytogenetic analysis which can serve as an effective index for clinical diagnosis ,treatment estimation of prognosis in leukemia . Methods Cytogenetic analyses were performed in 76 patients with AL with method of common chromosome .The chromosomes were prepared with direct method,and brief culture of cells . The karyotype was detected by conventional cytogenetic R-banding and G-banding.Clinical diagnosis and prognosis were observed.Results Chromosome aberrations were identified in 55% of AL cases. The complete remission rates of AL were significantly higher in patients with the normal karyotype than patients with the abnormal karyotype. Patients with the normal karyotype , ultratwiceploid and t (15 ;17) showed the best therapeutic effect , while patients with the abnormal karyotype ,-7/7q-、t(9;22)、t(4;11) 、t (9;11) and t(1;19) manifested the poor therapeutic effect. It might be a sign of relapse that the abnormal karyotype persisted during the period of AL remission ,the secondary abnormal karyotype persisted the poor prognosis.Conclusions Chromosomal abnormalities can be identified in at least 50% of AL. Chromosome translocations were specifically associated with AL subtypes of FAB. The study shows that cytogenetics was specifically associated with leukemia prognosis. Chromosomal abnormalities were specifically independent factor to evaluate prognosis with leukemia.更多还原