t（8;21）急性髓系白血病危险分层及预后因素分析

Risk stratification and analysis of prognostic factors of acute myeloid leukemia with t（8;21）

目的 联合检测t（8;21）染色体异常急性髓系白血病（AML）细胞遗传学及免疫表型,为t（8;21）AML危险分层提供临床依据,对预后因素进行分析以进一步探讨相关治疗策略.方法 采用骨髓直接培养、G显带技术分析22例初发t（8; 21）AML骨髓染色体核型,并采用流式细胞术进行骨髓细胞免疫表型检测.根据核型特征,分为单纯t（8;21）组及伴附加染色体核型异常组,比较两组临床特征及免疫表型,随访4～ 68个月（中位30个月）,进行预后分析.结果 22例t（8;21） AML患者中,单纯t（8;21）核型13例（59.1％）,伴附加染色体核型异常9例（40.9％）（其中伴性染色体缺失3例,复杂变异型易位2例,伴10q-、9q-、-18、＋10各1例）.两组患者临床特征及免疫表型未见明显差异.伴附加染色体核型异常组总体生存（OS）较单纯t（8;21）组差（P=0.0176）.预后因素分析示：t（8;21）染色体核型、初诊时白细胞计数、治疗方式（是否联合造血干细胞移植）对预后有影响.结论t（8;21）AML常合并附加染色体异常.伴附加染色体异常患者较单纯t（8; 21）AML预后差,可作为危险分层的重要依据之一.异基因造血干细胞移植可能有益于改善患者OS.

Objective To investigate the cytogenetic and immunological phenotypes of acute myeloid leukemia （AML） with t（8;21）,and explore the risk stratification and risk-adapted treatments.Methods The chromosomal karyotype of bone marrow was detected and analyzed in 22 newly diagnosed patients with t（8;21） AML by direct culture and G banding technique.Patients were divided into two groups according to the chromosomal karyotypes.Clinical characteristics and immunological phenotypes were compared between patients with isolated t（8;21） and those with additional aberrations.A follow-up study with median time 30 months （4-68 months） was conducted to analyze prognostic factors.Results 13 cases （59.1%） were isolated t（8;21） AML,while 9 （40.9 %） had additional aberrations.Loss of sex chromosome was found in 3 cases and complex variant translocation in 2.The 10q-,9q-,-18 and ＋10 were found in single cases.Overall survival of patients with additional aberrations was significantly poorer than those with isolated t （8;21） （P =0.0176）.Analysis of prognostic factors showed that t（8;21） chromosomal karyotype,initial white blood cells at diagnosis,and treatment regimen （chemotherapy alone or plus hematopoietic stem cell transplantation） had effects on overall survival.Conclusion Patients with t （8;21） AML are frequently associated with additional chromosomal aberrations.The latter indicates a poorer outcome and can be one of the bases of risk stratification.Hematopoietic stem cell transplantation might help to improve the overall survival.