伴inv(16)/t(16;16)(p13.1;q22)和/或CBFβ-MYH11融合基因的AML患者临床特征及预后分析  

Clinical Characteristics and Prognosis of Acute Myeloid Leukemia Patients with inv(16)/t(16;16)(p13.1;q22) and/or CBFβ-MYH11

作　　者：王叶敏 蔡萍[1] 周美佳 龚盈盈 潘金兰[1] 岑建农[1] 杨小飞[1] 陈苏宁[1] WANG Ye-Min;CAI Ping;ZHOU Mei-Jia;GONG Ying-Ying;PAN Jin-Lan;CEN Jian-Nong;YANG Xiao-Fei;CHEN Su-Ning(Department of Hematology The First Affiliated Hospital of Soochow University,Jiangsu Institute of Hematology,Suzhou 215006,Jiangsu Province,China)

机构地区：[1]苏州大学附属第一医院血液科,江苏省血液病研究所,江苏苏州215006

出　　处：《中国实验血液学杂志》2022年第2期367-372,共6页Journal of Experimental Hematology

基　　金：国家自然科学基金项目(81970142)。

摘　　要：目的:总结伴有inv(16)/t(16;16)(p13.1;q22)的急性髓系白血病(AML)患者临床及实验室特征,并分析影响患者预后的危险因素。方法:回顾性分析2008年1月1日至2019年10月30日苏州大学附属第一医院血液科收治的151例伴有inv(16)/t(16;16)(p13.1;q22)和/或CBFβ-MYH11;的AML患者,记录所有患者临床及实验室指标、治疗方案及疗效评估,分析影响其总体生存(OS)、无事件生存(EFS)的相关因素。结果:在151例伴有inv(16)/t(16;16)(p13.1;q22)和/或CBFβ-MYH11;的AML患者中,伴有附加染色体异常占比约27.8%,其中最常见为+22(33例,21.8%),其次为+8(11例,7.3%);完善NGS检查者有112例,最常见的伴随基因突变为KIT突变(34例,30.4%)和FLT3突变(23例,20.5%)。单因素分析显示,初诊时中性粒细胞数(NE)≤0.5×10^(9)/L(P=0.006)、合并K-RAS突变(P=0.002)是影响EFS的因素;初诊时年龄≥50岁(P<0.001)、NE≤0.5×10^(9)/L(P=0.016)是影响OS的因素。多因素分析提示初诊时NE≤0.5×10^(9)/L(P=0.019)是影响OS的危险因素;初诊时骨髓嗜酸粒细胞(BME)细胞比例≥10.00%(P=0.029)是影响EFS的危险因素。结论:初诊高龄、高比例骨髓嗜酸性粒细胞、合并K-RAS突变以及处于粒细胞缺乏状态的患者预后较差,可在早期调整治疗方案,以期改善这类患者预后。Objective: To summarize the clinical and laboratory characteristics of patients with acute myeloid leukemia(AML) with inv(16)/t(16;16)(p13.1;q22), and to analyze the risk factors affecting the prognosis of the patients. Methods: AML patients with inv(16)/t(16;16)(p13.1;q22) and/or CBFβ-MYH11;admitted to the Department of Hematology, The First Affiliated Hospital of Soochow University from January 1, 2008 to October 30, 2019 were retrospective analyzed, the clinical and laboratory indicators, as well as treatment plans and efficacy evaluations of the patients were all recorded. Furthermore, related factors affecting the overall survival(OS) and event-free survival(EFS) of the patients were analyzed. Results: Among 151 AML patients with inv(16)/t(16;16)(p13.1;q22) and/or CBFβ-MYH11;, the percentage of additional chromosomal abnormalities was about 27.8%, and the most common additional chromosomal abnormality was +22(33/151, 21.8%), followed by +8(11/151, 7.3%). There were 112 patients with perfect NGS examination, and the result showed the most common accompanying gene mutations were KIT mutation(34/112, 30.4%) and FLT3 mutation(23/112, 20.5%). Univariate analysis showed that factors affecting EFS included: NE≤0.5×10^(9)/L(P=0.006) and combined K-RAS mutation(P=0.002);Factors affecting OS included: Age≥50 years old(P<0.001) and NE≤0.5×10^(9)/L(P=0.016). Multivariate analysis showed that NE≤0.5×10^(9)/L(P=0.019) was the risk factors affecting OS. The proportion of bone marrow eosinophilia(BME)≥10.00%(P=0.029) was the risk factors affecting EFS. Conclusion: The prognosis for those newly diagnosed AML patients who were of advanced age, the high proportion of bone marrow eosinophils, K-RAS mutations, and agranulocytosis is poor. The treatment plans can be adjusted in the early stage to improve the prognosis of such patients.

关 键 词：inv(16)/t(16 16)(p13.1 q22) CBFβ-MYH11融合基因 临床特征 预后 

分 类 号：R733.71[医药卫生—肿瘤]