12例Ph染色体和BCR-ABL阳性急性髓系白血病临床分析  

Clinical Analysis of 12 Cases of Acute Myeloid Leukemia with Ph Chromosome and BCR-ABL Positive

作　　者：费新红[1] 武淑兰[1] 孙瑞娟[1] 周葭蕤 王静波[1] 王彤[1] 刘红星[1] 王卉[1] 童春容[1] 吴彤[1] 陆道培[1] 

机构地区：[1]北京市道培医院,北京100049

出　　处：《中国实验血液学杂志》2012年第3期545-548,共4页Journal of Experimental Hematology

摘　　要：本研究对2004年1月-2011年2月收治的12例Ph染色体阳性急性髓系白血病(Ph+AML)患者的白血病细胞的形态学、免疫学、细胞遗传学和分子生物学特征及其与生存期的相关性进行分析。Ph+AML的诊断根据WHO标准,且有t(9;22)(q34;q11)或变异的t(9;22)异常,诊断时和诱导治疗后没有CML慢性期的证据。结果表明,12例患者经形态和免疫分型检查确诊8例为AML,4例为髓系及B淋巴细胞系混合细胞白血病。12例患者中除2例初诊时未做染色体检查外其余患者均可检测到Ph染色体,且部分患者伴有复杂染色体或与正常核型共存。在12例患者中均可检测到BCR-ABL阳性,其中b3a2 7例,b2a2 1例,b2a2变异体1例,ela2 2例,e18a2 1例。12例患者经治疗均获得缓解,其中3例患者接受化疗联合格列卫治疗后2例死亡;9例患者进行异基因造血干细胞移植(allo-HSCT),1例患者复发后死亡,1例死于移植后并发症,中位生存期为24(8-80)个月,3年总生存率为(51.4±17.7)%。结论:Ph+AML是一种预后较差的AML,格列卫联合化疗可使患者达完全缓解,缓解后尽快进行HSCT能获得长期生存,改善患者预后。BCR-ABL基因及其变异体的检测为白血病的诊断和治疗提供了更多的机会,可作为初治白血病的常规筛查指标。This study was purposed to analyze the characteristics of morphology,immunology,cytogenetic and molecular biology of leukemia cells in 12 AML patients with Ph＋ and their correlation with survival of patients.12 patients with Ph＋ AML were diagnosed according to diagnostic criteria of WHO and existence of t（9;22）（q34;q11） or t（9;22） abnormality,meanwhile no evidence of CML chronic phase was observed.The results showed that 8 out of 12 cases were confirmedly diagnosed to be AML by morphologic and immunophenotypic examination,4 cases were diagnosed as myeloid and B lymphocytic mixed acute leukemia.The Ph chromosome was detected in 10 cases by chromosome analysis at the first time of diagnosis,and some of the cases had coexistence of complex chromosome and/or normal karyotype.BCR-ABL transcript was detected in all 12 cases,including 7 cases with b3a2,1 case with b2a2,1 case with b2a2 variants,2 cases with e1a2 and 1 case with e18a2.The 12 cases all got complete remission after chemotherapy and/or gleevec treatment,out of them 3 cases received chemotherapy and gleevec treatment,but 2 cases died;9 cases received allogeneic hematopoietic stem-cell transplantation（allo-HSCT）,1 case died from relapse,among them 1 case died from transplant complications.The median survival was 24（8-80） months,the overall survival of 3 years was（51.4±17.7）%.It is concluded that the Ph＋ AML is a acute myelogenous leukemia with poor prognosis,but long-term survival may be achieved with HSCT as quick as after complete remission from gleevec and chemotherapy treatment.Meanwhile,the detection of BCR-ABL gene and it variants may be give more opportunity for diagnose and treatment,which can be used as routine screening for newly diagnosed leukemia.

关 键 词：PH染色体 BCR-ABL融合基因 急性髓性白血病 异基因造血干细胞移植 

分 类 号：R733.71[医药卫生—肿瘤]