急性髓系白血病部分分化型的遗传学与基因异常分析  

Genetic and gene abnormality in acute myeloblastic leukemia with maturation

作　　者：刘若阳[1] 王冲[1] 姜中兴[1] 孙慧[1] 孙玲[1] 万鼎铭[1] 谢新生[1] 刘延方[1] LIU Ruo - Yang;WANG Chong;JIANG Zhong - Xing;SUN Hui;SUN Ling;WAN Ding - Ming;XIE Xin - Sheng;LIU Yan- Fang(Department of Hematology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450000, Chin)

机构地区：[1]郑州大学第一附属医院血液科,郑州450000

出　　处：《医药论坛杂志》2018年第3期80-83,共4页Journal of Medical Forum

摘　　要：目的回顾性分析初诊急性髓系白血病部分分化型(AML-M2)患者的临床资料,探究其细胞遗传学和分子生物学特征及其预后因素。方法将郑州大学第一附属医院2015年1月—2016年12月期间初诊181例AML-M2患者纳入本研究。均随访至2017年6月。收集其年龄、性别、初诊白细胞计数、血小板计数、骨髓原始细胞比例、基因、染色体、总生存时间资料,利用SPSS 22.0软件进行统计学分析。结果 22.9%的AML-M2患者AML1/ETO融合基因阳性,其中56.3%的患者常伴随其他基因突变。16.5%的AML-M2患者有t(8;21)染色体异常,-X/-Y性染色体缺失是最常见的伴随异常。t(8;21)阳性组较正常核型组CR率明显增高(75%vs 56.1%)。年龄≥60岁组CR率较<60岁组CR率减低(50%vs 59.3%)(P<0.05)。白细胞>10×109/L患者的CR率显著降低(P<0.001)。结论 AML-M2患者具有一定的细胞遗传学及分子生物学特征,高龄、白细胞计数>10×109/L、t(8;21)以外附加染色体异常、AML1/ETO基因阴性对AML-M2患者预后有不良影响。Objective This study aims to investigate the characteristics of cytogenetics and gene mutations in acute myeloblastic Leukemia with Maturation （ AML - M2） patients and their prognostic signifieanees. Methods Records Total 181 patients newly diagnosed as AML - M2 from January 2015 to December 2016 were enrolled and followed up until June 2017. The factors influencing prognosis were analyzed by using SPSS 22. 0, including age, sex, initial WBC and PLT counts, bone marrow blasts ratio, gene mutations, chromosome aberrations, and response rate to chemotherapy. Results The fused gene AML1/ETO were observed in 22.9% of AML - M2 patients with 56.3% of these AML1/ETO （ ＋） patients eompanied with other gene mutations. Chromosomal translocation of t （ 8 ;21） was found in 16. 5% of AML - M2 patients and the sex chromosome deletion （- X/- Y） was the most frequent attendant aberration. Higher CR rate was found in patients carried t{8 ;21 } group（75% } higher than that without t（8 ;21 } group （56. 1% }. Patients over 60 years old had lower CR rate compared with patients under 60 years old { 50% vs 59. 3% } （P 〈 0. 05 }. Patients whose initial WBC 〉 10× 109/L owned lower CR rate{ P 〈0. 001 }. Conclusion The AML - M2 patients display varied cytogenetic and molecular features with varied clinical responses. Venerable age, initial WBC counts 〉 10 ~ 109/L, AML1/ETO（ - ） and additional chromosome abnormality may impose negative effects on the prognosis of AML- M2 pa- tients.

关 键 词：急性髓系白血病部分分化型 细胞遗传学 分子生物学 预后 

分 类 号：R733.71[医药卫生—肿瘤]