非典型t(15;17)易位的急性早幼粒细胞白血病的遗传学分析  

The genetic analysis of acute promyelocytic leukemia without classical t(15; 17)

作　　者：孙川[1] 王伟[2] 冯亮[2] 张英辉[1] 李倩[3] 陈慧[3] 

机构地区：[1]海南省农垦总医院,海南海口570311 [2]吉林油田总医院,吉林松原138000 [3]温州医学院附属第二医院,浙江温州325003

出　　处：《中国卫生检验杂志》2015年第3期389-392,共4页Chinese Journal of Health Laboratory Technology

摘　　要：目的探讨非典型t(15;17)易位的急性早幼粒细胞白血病(APL)患者的形态学、免疫表型、遗传学特征和预后的关系。方法取骨髓液,瑞氏染色分析形态,短期培养法R显带核型分析,流式细胞仪检测免疫表型,FISH(荧光原位杂交)检测PML-RARα融合基因。结果 41例患者中,形态学典型的40例,不典型的1例为骨髓坏死。41例患者均为髓系表达:CD13+、CD33+、c MPO+、HLA-DR多为阴性(仅2例阳性)。9例CD15+(22.0%),16例CD117+(39.0%),6例CD34+(14.6%),4例伴淋系抗原表达(9.8%)。核型分析为经典的t(15;17)易位的29例(70.7%),有t(15;17)同时伴额外染色体异常的5例(12.2%),不伴t(15;17)易位的7例(17.1%)。PML-RARα融合基因阳性34例(82.9%),阴性7例(17.1%)。儿童患者不伴t(15;17)易位的比例较成人高(P<0.05)。儿童患者复发或死亡率高于成人(P<0.05)。结论遗传学PML-RARα融合基因阴性的APL少见,容易误诊而延误治疗。儿童APL患者不伴t(15;17)易位的比例较成人高,且预后不良。Objective To study the relationship among morphology,immunology,genetic characteristics and prognosis on cases of acute promyelocytic leukemia（ APL） without t（ 15; 17）. Methods Bone marrow was sampled for Wright＇s stain morphology analysis and R- banding karyotype analysis with short- term culture. Immunophenotyping was performed by flow cytometry.PML- RARa fusion gene detection was performed by fluorescence in situ hybridization（ FISH）. Results Among 41 cases of APL,40 cases were typical in morphology,1 case which was not typical in morphology was bone marrow necrosis. 41 cases were all in myeloid expression： CD13^＋,CD33^＋,cMPO^＋,HLA- DR（ except 2 cases for HLA- DR^＋）. CD15^＋in 9 cases（ 22. 0%）,CD117^＋in 16 cases（ 39. 0%）,CD34＋in 6 cases（ 14. 6%）,t lymphoid expression in 4 cases（ 9. 8%）. Among41 APL cases,29 cases（ 70. 7%） were classical t（ 15; 17）（ q22; q21） translocation,5 cases（ 12. 2%） with additional chromosomal abnormalities,7 cases（ 17. 1%） accompanying no t（ 15; 17） translocation. 34 cases were positive PML- RARα fusion gene（ 82. 9%）,negative for 7 cases（ 17. 1%）. The ratio of children cases accompanying no t（ 15; 17） translocation was apparently higher than that in adults（ P〈0. 05）. Conclusion APL patients with negetive PML- RARα fusion gene were rare. It is prone to misdiagnose so as to delay treatment. The ratio of children patients with no t（ 15; 17） translocation was higer than that in adults,and the prognosis was poor.

关 键 词：急性早幼粒细胞白血病 非典型t(15 17)易位的急性早幼粒细胞白血病 PML-RARΑ融合基因 额外染色体异常 免疫表型 

分 类 号：R733.71[医药卫生—肿瘤]