Objective: To evaluate the clinical and prognostic differences in acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) children under different diagnostic criteria (World Health Organization (WHO) 2016 and WHO 2022 criteria). Methods: In this retrospective cohort study, clinical characteristics and prognosis information of 260 acute myeloid leukemia (AML) children admitted to Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences from August 2017 to August 2021 were analyzed retrospectively. According to WHO 2016 and WHO 2022 diagnostic criteria, patients were divided into AML-MRC group and non-AML-MRC group, the prognostic and genetic differences between two groups were compared respectively. Meanwhile, the characteristics of children with 8 MRC-related genes defined in WHO 2022 diagnostic criteria were described. Mann-Whitney U test, chi-square test were used for comparison between groups. Survival curve was plotted by Kaplan-Meier method, and comparison between groups was performed by Log-Rank method. Results: Among the 260 children, there were 148 males and 112 females. The follow-up time was 26 (16, 38) months. A total of 28 children (10.8%) were diagnosed with AML-MRC according to the WHO 2016 diagnostic criteria. Compared with non-AML-MRC children, the frequency of PTPN11, RUNX11, SH2B3, MPL and STAG2 mutations was higher in AML-MRC children (25.0% (7/28) vs. 4.3% (10/232), 14.3% (4/28) vs. 3.9% (9/232), 10.7% (3/28) vs. 2.2% (5/232), 10.7% (3/28) vs. 2.2% (5/232), 10.7% (3/28) vs. 0.9% (2/232), all P<0.05). The 2-year overall survival (OS) and events free survival (EFS) rate of 28 AML-MRC children under WHO 2016 diagnostic criteria were worse than those of 232 non-AML-MRC children ((62.1±10.8)% vs. (94.5±1.6)%, χ2=22.1,P<0.001;(48.0±10.6)% vs. (70.9±3.2)%, χ2=6.33,P=0.012). Twenty-seven children (10.4%) were eventually diagnosed with AML-MRC according to WHO 2022 criteria, their 2-year OS rate were worse than 233 non-AML-MRC children ((60.8±11.1)% vs. (94.5±1.6)%, χ2=24.49,P<0.001), and there was no statistically significant difference in EFS rate between two groups at 2 years ((55.1±10.8)% vs. (70.1±3.2)%, χ2=2.44, P=0.119). Conclusions: Compared with the 2022 WHO diagnostic criteria, the survival rates of children with AML-MRC under the 2016 WHO diagnostic criteria were worse than that of children without MRC.The new version of the AML-MRC diagnostic criteria emphasizes the importance of genes.
目的： 评估伴骨髓增生异常相关改变的急性髓系白血病（AML-MRC）患儿在不同诊断标准下［世界卫生组织（WHO）2016年和WHO 2022年诊断标准］的临床及预后差异。 方法： 回顾性队列研究。纳入2017年8月至2021年8月就诊于中国医学科学院血液病医院的急性髓系白血病患儿共260例，收集患儿初诊时的临床特征及预后信息。分别按照WHO 2016年及WHO 2022年诊断标准分为AML-MRC患儿组与非AML-MRC患儿组，比较两组之间的预后及基因差异；对WHO 2022年诊断标准中定义的8种MRC相关基因患儿进行特征描述。组间比较采用Mann-Whitney U检验或χ2检验。采用Kaplan-Meier方法绘制生存曲线，Log-Rank法进行组间比较。 结果： 260患儿中男148例、女112例，随访时间26（16，38）个月。按照WHO 2016年诊断标准诊断为AML-MRC患儿共28例（10.8%），与232例非AML-MRC患儿相比，AML-MRC患儿组伴有PTPN11、RUNX11、SH2B3、MPL、STAG2突变的频率更高［25.0%（7/28）比4.3%（10/232），14.3%（4/28）比3.9%（9/232），10.7%（3/28）比2.2%（5/232），10.7%（3/28）比2.2%（5/232），10.7%（3/28）比0.9%（2/232），均P<0.05］。WHO 2016年诊断标准下的28例AML-MRC患儿2年的总生存率（OS）及无事件生存率（EFS）均比232例非AML-MRC患儿更差［（62.1±10.8）%比（94.5±1.6）%，χ2=22.1，P<0.001；（48.0±10.6）%比（70.9±3.2）%，χ2=6.33，P=0.012］。而按照WHO 2022年诊断标准最终有27例（10.4%）患儿诊断为AML-MRC，其2年的OS比233例非AML-MRC患儿更差［（60.8±11.1）%比（94.5±1.6）%，χ2=24.49，P<0.001］，而2年的EFS差异无统计学意义［（55.1±10.8）%比（70.1±3.2）%，χ2=2.44，P=0.119］。 结论： 相对于2022年WHO诊断标准，按照2016年WHO诊断标准下的AML-MRC患儿生存率较非MRC患儿更差，新版的AML-MRC诊断标准更加强调基因的重要性。.