成人Ph染色体和(或)bcr-abl阳性急性淋巴细胞白血病患者细胞遗传学及预后分析

目的 分析成人Ph染色体和(或)bc-abl阳性(Ph+/bor-abl+)急性淋巴细胞白血病(ALL)患者细胞遗传学改,变的特点,探讨其对预后的影响.方法 回顾性分析1996年1月至2007年12月就诊并行染色体检杏的100例成人Ph+/bcr-abl+ALL.患者的临床资料,总结其染色体畸变的类型、分布和频牢特点,并进行分组研究,探讨不同组之间的临床特点及预后差异.结果 ①72例检出染色体异常,22例为单纯Ph染色体阳性或其变异型,44例Ph阳性伴附加染色体异常,常见的异常有+Ph、-7、+21、-20、+8、9p-、del(22)等.②染色体数目分组比较:假二倍体组和高二倍体组初诊时白细胞计数明显高于正常核型组,而正常核型组总生存(OS)率较业二倍体和假二倍体组高,无复发生存(RFS)期较亚二倍体和假二倍体组长.③染色体畸变类型分组比较:Ph阳性组初诊时白细胞计数明显高于Ph阴性组,而OS率较Ph阴性组低,RFS期较Ph阴性组短;单纯Ph阳性组与Ph阳性伴附加染色体异常组在临床特征、OS率和RFS期间的差异均无统计学意义.同时Ph阳性伴附加染色体异常组的OS期和RFS期也明显短于Ph阴性组.④核型分组比较:全部核型正常组(NN)患者较正常与异常核型共存组(AN)年龄轻,初诊时白细胞计数低,融合基因表达以P190为主,髓系抗原表达率高,RFS率和OS率高;NN组较全部核型异常组(AA)初诊时白细胞计数低,髓外浸润重,RFS率和OS率高.而AA与AN组之间各项差异均无统计学意义.⑤双Ph染色体组融合基因P190比例低于非双Ph染色体组,OS期短于非双Ph染色体组.结论 成人Ph+/bcr-abl+ALL患者染色体改变复杂,假二倍体和高二倍体提示预后不良,双Ph染色体可能提示预后不良.

Cytogenetic and prognostic analysis in adult patients with Philadelphia chromosome-positive and bcr-abl positive acute lymphoblastic leukaemia

Objective To analyze the characteristics of cytogenetic aberration of adults with Philadel- phia chromosome-positive (Ph+) and/or bcr-abl positive (bcr-abl+) acute lymphoblastic leukaemia (ALL), and investigate its influence on patients' outcomes. Method Retrospective analysis of 100 adult Ph+ ALL patients from January 1, 1996 to December 31,2007 was carried out. The type, distribution and frequency of chromosome aberration were summarized, and compared among different subgroups. Results ①ln all cases, 72 had chromosome aberrations, including 22 with sole Ph chromosome, 44 Ph+ with additional abnormali-ties, which included double Ph, monosomy 7, monosomy 20, trisomy 8 trisomy 21,9p deletion and 22 dele-tion. ②Patients with pseudodiploid and hyperdiploid had higher WBC count, and inferior outcome with lower rates of overall survival (OS) and relapse free survival (RFS). ③Ph+ group also had higher WBC counts and inferior outcome with low OS and RFS rates. There was no statistic significance between sole Ph+ group and Ph plus additional aberrations group.④ Patients with both abnormal and normal metaphase (AN) and with solely abnormal metaphase(AA) had higher WBC count, less frequent PI90 occurrence and inferior outcome than those only normal metaphase(NN) group, whereas, there was no difference between AA and AN groups. ⑤ Double Ph chromosome had a lower frequency of P190 and inferior OS than non-double Ph grout). Conclusion Adults with Ph+ ALL have complieated eytogenetic abnormalities, pseudodiploid and hyperdip loid indicate inferior outcome, and double Ph chromosome may be a unfavorable prognostic factor.