早期死亡的急性髓系白血病患者临床特征及二代测序结果分析

Clinical characteristics and next generation sequencing results analysis of acute myeloid leukemia patients dying early

目的探讨早期死亡的急性髓系白血病(AML)患者的临床特征及二代测序(NGS)结果。方法回顾性病例系列研究。回顾性分析2016年1月至2021年5月汕头大学医学院附属粤北人民医院收治的48例早期死亡AML患者的临床资料,所有患者分为极早期死亡组(诊断后3 d内死亡)10例和非极早期死亡组(诊断后4~30 d死亡)38例。采用NGS技术检测血液肿瘤相关196个突变基因。结果极早期死亡组白细胞计数、肌酐水平、乳酸脱氢酶水平、骨髓原始细胞比例均高于非极早期死亡组,差异均有统计学意义(均P<0.05)。48例早期死亡的AML患者中,34例有NGS结果,其中5例为极早期死亡,29例为非极早期死亡。34例患者均检测到了基因突变,共检测出32个突变基因,33例(97.06%)患者同时有2个以上基因突变,基因突变的中位数[M(Q1,Q3)]为3个(2个,4个)。结论早期死亡AML患者常合并2个以上基因突变,涉及多个信号通路;极早期死亡AML患者有着不同于非极早期死亡AML患者的临床特征。

Objective:To investigate the clinical characteristics and next generation sequencing(NGS)results of acute myeloid leukemia(AML)patients dying early.Methods:A retrospective case series study was performed.The clinical data of 49 AML patients dying early in the Affiliated Yuebei People's Hospital of Shantou University Medical College from January 2016 to May 2021 were retrospectively analyzed.All patients were divided into 10 cases in the very early death group(death occurred within 3 d after diagnosis)and 38 cases in the non-very early death group(death occurred within 4-30 d after diagnosis).NGS was used to detect 196 mutant genes related to hematological malignancies.Results:The white blood cell count,creatinine level,lactate dehydrogenase level,bone marrow original cells proportion in the very early death group were higher than those in the non-very early death group,and the differences were statistically significant(all P<0.05).Among 48 AML patients dying early,34 cases had NGS results,among which the very early death occurred in 5 cases and the non-very early death occurred in 29 cases.Gene mutations were detected in 34 patients;finally 32 mutant genes were detected and 33 cases(97.06%)harbored more than 2 gene mutations,and the median number[M(Q1,Q3)]of gene mutations was 3(2,4).Conclusions:AML patients dying early harbor more than 2 gene mutations involving multiple signaling pathways.The clinical characteristics of AML patients in the very early death group are different from those of patients in the non-very early death group.