AML-MRC患者遗传特征及预后特点分析

目的:探讨急性髓系白血病伴骨髓增生异常相关改变(AML-MRC)患者的遗传特征及其预后特点。方法:选取近5年到宁波市第一医院就诊的非M3 AML患者230例,其中58例初发AML-MRC患者,对其进行随访并用SPSS 25.0软件进行相关统计分析。结果:共有49例患者进行了染色体检测,29例(59.2%)染色体异常,其中7q-8例(16.3%),5q-6例(12.2%),17p异常5例(10.2%),高度异常的复杂核型(CK)(≥5个无关染色体异常)13例(26.5%),CK中包含有+8、5q-等染色体异常,单体核型(MK)12例(24.5%)。37例患者进行了基因检测,24例(64.9%)存在基因突变,其中ASXL1突变8例(21.6%),TET2突变6例(16.2%)。Kaplan-Meier分析显示,伴有高度CK(P=0.012)、5q-(P=0.038)以及TP53突变(P=0.008)的AML-MRC患者总体生存率更差。结论:AML-MRC具有独特遗传学特征,高度CK、5q-及TP53突变是影响患者预后的不良因素。

The Genetic and Prognostic Characteristics of AML-MRC Patients

Objective:To investigate the genetic and prognostic characteristics of acute myeloid leukemia with myelodysplasia-related changes(AML-MRC) patients.Methods:There were 230 non-M3 AML patients treated in Ningbo First Hospital enrolled,among which 58 patients were newly diagnosed AML-MRC,the patients were followed up and SPSS 25.0 was used to statistically analyze.Results:There were 49 patients performed genetic testing,29 patients(59.2%) showed chromosomal abnormalities,including 7 q-8 cases(16.3%),5 q-6 cases(12.2%),5 cases(10.2%)of 17 p abnormalities,13 cases(26.5%) of highly abnormal complex karyotypes(CK)(≥ 5 unrelated chromosomal abnormalities),CK contained chromosomal abnormalities such as+8,5 q-,and 12 cases(24.5%) of monosomal karyotypes(MK).Genetic testing was performed in 37 patients,and 24(64.9%) patients showed genetic mutations,among which ASXL1 mutation was the most common(8 cases,21.6%),followed by TET2 mutation in 6 cases(16.2%).Kaplan-Meier analysis showed that AML-MRC patients with high CK(P=0.012),5 q-abnormalities(P=0.038),and TP53 mutations(P=0.008) had poor overall survival.Conclusion:AML-MRC has unique genetic characteristics,and high CK,5 q-and TP53 mutations are poor prognostic factors.