126例急性白血病患者染色体核型分析与临床意义

目的 研究急性白血病（AL）的细胞遗传学特征及其与临床的关系和意义。方法 分析126例AL初治患者骨髓染色体核型，采用直接培养法或24／48h短期培养法G显带技术检测染色体。结果 AML中M3的核型畸变率最高，M6最低，t（15；17）最多且仅见于M3，t（8；21）见于M2、M4、M4EO、M5，＋8异常见于AMLM2、M3、M4、M5、M6各亚型。t（15；17）组缓解率为93．3％，t（8；21）组为75．0％，其它核型异常组为52．0％，三组疗效比较差异有显著性，P〈0．05。其中t（15；17）组与其它核型异常组比较差异有显著性，P〈0．017；t（15；17）组与t（8；21）组比较、t（8；21）组与其它核型异常组比较差异均无显著性意义，P均〉0．05．AML正常核型组缓解率为72．5％．12例t（15；17）患者中7例（58．3％）WT1基因为阴性，缓解率为100．0％，5例（41．7％）为阳性，缓解率为75．0％．6例t（8；21）患者中4例（66．7％）WT1基因为阴性，缓解率为100．0％，2例（23．3％）为阳性，缓解率为50．O％．ALL双Ph染色体异常2例，均为NR，且1例经行外周血干细胞移植仍未达到缓解。结论 染色体研究对白血病的疗效及预后判断有重要意义；AML核型是否正常与WT1基因阳性率无关，t（15；17）和t（8；21）两组WTI（一）患者缓解率高于WT1（＋）患者。

Cytogenetic Analysis on 126 Cases of Acute Leukemia and Its Clinical Significance

Objective To investigate the cytogenetics of acute leukemia and its clinical therapeutic significance.Methods Karyotypes from a total of 126 de novo acute leukemia cases were centrally reviewed.Specimens were processed using direct methods,unstimulated short-term(24 and 48-hours) cultures,or both.G-banding was performed.Results The incidence of cytogenetic abnormalities of M_3 cases was the highest among AML while that of erythroleukemia(EL or M_6) was the lowest.The t(15;17) aberration was the most frequently presented one in AML,but only presented in M_3.The t(8;21)was presented in M_2,M_4,M_4EO,and M_5.The +8 chromosome abnormality was presented in M_2,M_3,M_4,M_5 and M_6 subtypes.The remission rate of t(15;17) group was 93.3%.The remission rate of t(8;21) was 75.0%.The remission rate of other cytogenetic abnormalities group was 52.0%.There were statistical significances among the outcome of the three groups,P<0.05.There was statistical significance between the t(15;17) group and the other cytogenetic abnormalities group,P<0.017.There was no statistical significance between the t(15;17) group and the t(8;21) group,P>0.05.And there was no statistical significance between the t(8;21) group and the other cytogenetic abnormalities group,P>0.05.The remission rate of normal karyotype group in AML was 72.5%.Among 12 cases with t(15;17) chromosome abnormality,7(58.3%) were WT1 negative,the remission rate was 100.0%,5(41.7%) were WT1 positive,the remission rate was 75.0%.Among 6 cases with t(8;21) chromosome abnormality,4(66.7%) were WT1 negative,the remission rate was 100.0%,2(23.3%)were WT1 positive,the remission rate was 50.0%.There were two cases in ALL who had double Philadelphia(Ph) chromosome and were NR.The outcome of one case was NR even after peripheral blood stem cell transplantation(PBSCT).Conclusions Cytogenetics is an important therapeutic and prognostic factor to leukemia.There is no correlation between WT1 gene and the karyotypic pattern of AML cases.As to t(15;17) and t(8;21) chromosome abnormalities,the remission rate of the cases with WT1(-) is higher than those of the cases with WT1(+).