摘要
目的 探讨有利于Ph染色体和（或）BCR-ABL融合基因阳性急性髓系白血病（Ph/BCR-ABL^＋ AML）诊断的临床和实验室特征.方法 收集2006年2月至2013年12月收治的12例Ph/BCR-ABL^＋ AML患者资料,以典型慢性髓性白血病急髓变（CML-MBC）患者为对照组,回顾性分析两者临床及实验室特征,并随访生存情况.结果 12例患者中位年龄27.5岁,无或轻度脾脏肿大者10例（83.3％）,FAB分型以m^2和M4为主,中位外周血和骨髓嗜碱粒细胞比例、巨核细胞数低于典型CML-MBC患者.免疫表型均为髓系表达,表达CD34者8例（66.7％）.11例患者检测到t（9;22）,伴附加染色体异常5例（45.5％）,其中1例为inv（16）.12例患者均检测到BCR-ABL融合基因,e1a2型3例（25.0％）,余为b2a2/b3a2型,其中1例伴有CBFβ-MYH11表达.6例受检患者中2例存在AML常见突变,其中CEBPA突变1例,FLT3-TKD突变1例.诱导治疗完全缓解（CR）7例（58.3％）,7例接受化疗联合酪氨酸激酶抑制剂（TKI）者6例CR,3例接受单独化疗者l例CR.总体中位生存期16.5个月,异基因造血干细胞移植（allo-HSCT）组为33.5个月,高于非移植组（5.5个月）.结论 e1a2型融合基因、与AML常见融合基因共表达、存在AML常见突变有利于Ph/BCR-ABL-AML诊断;此类患者诱导缓解率低,生存期短,化疗联合TKI获得缓解后尽早行allo-HSCT是改善其生存的唯一有效途径.
Objective To explore the clinical and laboratory characteristics in favor of the diagnosis of Ph/BCR-ABL positive acute myeloid leukemia （Ph/BCR-ABL^＋ AML）.Methods Retrospectively analyzed the clinical and laboratory characteristics of 12 Ph/BCR-ABL＋ AML cases from Feb,2006 to Dec,2013,with classic myeloid blast crisis of chronic myeloid leukemia （CML-MBC） as control,and followed-up the survival in these two cohorts of patients.Results The median age of 12 Ph/ BCR-ABL^＋ AML was 27.5 years,10 cases （83.3%） showed non/mild splenomegaly,and mainly comprised of m^2 and M4 subtypes according to FAB classification.The median number of basophils and megakaryocytes in peripheral blood and bone marrow was lower than that of CML-CBC patients.All the cases expressed myeloid antigens,8 cases （66.7%） expressed CD34,11 cases were detected with t （9;22）,5 cases （45.5%） with additional chromosomal abnormalities,including 1 case of inv（16）.All the cases had BCR-ABL transcripts at diagnosis：3 （25.0%） cases were ela2type and the remaining was b2a2/ b3a2type,among which 1 case coexpressed CBFβ-MYH1 1.Two out of 6 cases existed AML-like mutations：1 case of CEBPA and the other of FLT3-TKD.For all the patients,7 cases achieved complete remission （CR）,including 6 out of 7 cases receiving induction chemotherapy combined with tyrosine kinase inhibitor （TKI） achieved CR,and 1 out of 3 cases receiving chemotherapy alone achieved CR.The median overall survival was 16.5 months,that of allo-HSCT group was 33.5 months,which was higher than that of non-HSCT group （5.5 months）.Conclusions The expression of ela2type BCR-ABL,the coexpression of fusion genes which were more common in AML,the existence of AML-like mutations were all indications of a de novo Ph/BCR-ABL＋ AML.Low induction CR rate and short survival of Ph/ BCR-ABL＋ AML implied that chemotherapy combined with TKI and followed by allo-HSCT in CR was the only effective way to improve their survival.
出处
《中华血液学杂志》
CAS
CSCD
北大核心
2015年第5期398-402,共5页
Chinese Journal of Hematology
基金
基金项目：卫生公益性行业科研专项（201202017）
国家高技术研究发展计划（863计划）（2012AA02A505）
江苏省科教兴卫工程一临床医学中心（ZX201102）
国家临床重点专科建设项目
关键词
白血病
髓样
急性
白血病
髓样
急变期
费城染色体
BCR-ABL
Leukemia,myeloid,acute
Leukemia,myeloid,blast crisis
Philadelphia chromosome
Fusion gene,BCR-ABL
作者简介
通信作者：吴德沛，Email：wudepei@medmail.com．cn
