伴21号染色体核型异常的急性髓性白血病31例临床特点分析

摘要

Objective:To investigate the clinical characteristics of 31 acute myeloid leukemia (AML) patients with chromosome 21 aberrations.Methods:Karyotypes of 168 newly diagnosed AML patients in Second Xiangya Hospital from Jan 2014 to July 2016 were reviewed for the presence of chromosome 21 aberrations (accounting for 18.45％).Clinical manifestation,as well as prognostic gene mutations distribution and immune classification were analyzed.Results:Out of 168 AML newly diagnosed patients,31 cases with chromosome 21 aberrations including t (8;21) accounting for 67.74％ (21/31),and trisomy 21 (16.13％,5/31),2 variants were found as t(1;21) and t(1;21;8);77 cases had normal karyotype,and 60 cases possessed other chromosomes aberrations.Statistically significant differences did not exist among age,sex and white blood cell count (P ＞ 0.05).However,the 21 cases in chromosome aberrations group were predisposed to lower hemoglobin and platelet count(P ≤ 0.05).5 cases of Trisomy 21 were characterized by M5 2 cases,M1 one case,M2 one case M4 one case.And the rate of C-kit/D816V mutation was higher in t(8;21) aberrations group when 7 prognostic genes including FLT3/ITD,C-kit/D816V,NPM1,DNMT3A,TET2 were analyzed,and the immune classification of t(8;21) aberration group inclined to CD19+,CD34+ but CD33-,CD64-.And trisomy 21 displayed a trend to CD34+ and CD7+.Conclusion:Chromosome 21 is easily involved in acute myeloid leukemia.The patients with involvement of this aberration have characteristic clinic changes.%目的:探讨伴21号染色体核型异常的急性髓系白血病的临床特点.方法:回顾性分析2014年1月至2016年7月中南大学湘雅二医院收治的168例初治急性髓系白血病(AML)患者的临床资料,其中31例为伴21号染色体核型异常(占18.45％),对这31例患者临床表现、预后基因分布、免疫分型特点进行分析.结果:168名初治AML患者中,31例为伴21号染色体核型异常,其中t(8;21)占67.74％(21/31),并发现2例变异型改变,分别为t(i;21)和t(1;21;8),5例21号染色体三体,占16.13％(5/31》),伴其他21号染色体异常3例,77例核型正常,60例为其它核型异常.3组患者年龄、性别、白细胞计数等方面,无明显差异(P＞0.05),而t(8;21)患者倾向于低血红蛋白和血小板(P≤0.05),5例21号染色体三体形态学表现2例为M5,1例为M1,1例为M2,1例为M4.对FLT3/ITD、C-kit/D816V、NPM1、CEBPA、ASLXL1、DNMT3A、TET2的7个预后基因分析显示,在t(8;21)染色体核型异常组中C-kit/ D816V突变高发;而t(8;21)染色体异常组的免疫分型表现倾向为CD19+,CD34+,CD33-,CD64-的趋势,21号染色体三体则表现为CD34+和CD7+趋势.结论:21号染色体为急性髓性白血病患者易受累的染色体,累及该染色体的患者有其特征性的临床表现.