1058例初诊急性白血病患者46种融合基因筛查分析

Analysis of 46 fusion genes in 1058 newly diagnosed acute leukemia patients

目的 分析1 058例急性白血病(acute leukemia, AL)初诊患者样本46种融合基因的检测结果,以明确AL患者融合基因的分布情况,并探讨其在临床诊治中的应用价值。方法 回顾2017年4月年至2021年6月送检至本实验室且诊断为AL[包括急性髓系白血病(acute myeloid leukemia, AML)、急性淋巴细胞白血病(acute lymphoblastic leukemia, ALL)和急性系列未明白血病(acute leukemia of ambiguous lineage, ALAL)]的患者全血样本1 058例,采用多重荧光PCR法检测46种融合基因。分析AML、ALL及ALAL患者样本中各类融合基因的检出情况以及不同年龄段的分布差异,并用卡方检验进行差异性分析。结果 AML、ALL及ALAL患者样本中融合基因的阳性率分别为50.30%、47.25%和16.32%。包含核孔蛋白98(nucleoporin 98,NUP98)融合在内的10种融合基因在AML和ALL患者中的分布差异均有统计学意义(P均<0.01)。AML中在不同年龄段患者的融合基因阳性率差异亦有统计学意义(P<0.01)。结论 融合基因在AL患者中的阳性率较高,其分布特征可为疾病的临床诊断和治疗提供有利证据。

Objective To investigate the distribution of fusion genes in acute leukemia(AL)patients and its application value in clinical diagnosis and treatment of AL by analyzing the detection results of 46 fusion genes in 1058 newly diagnosed AL patients.Methods A total of 1058 whole blood samples from the patients newly diagnosed as AL,including acute myeloid leukemia(AML),acute lymphoblastic leukemia(ALL)and acute leukemia of ambiguous lineage(ALAL),were collected during April 2017 and June 2021,and 46 fusion genes were detected by multiplex fluorescent PCR.The detection results of various fusion genes and distribution differences of different age groups in patients with AML,ALL and ALAL were analyzed byχ2 test.Results The positive rates of fusion genes in patients with AML,ALL and ALAL were 50.30%,47.25%and 16.32%,respectively.The distribution differences of 10 fusion genes in AML and ALL,including nucleoporin 98,were statistically significant(P<0.01).There was also significant difference in the positive rate of fusion genes in AML at different ages(P<0.01).Conclusion The positive rate of fusion genes in AL is relatively higher,and their distribution characteristics may provide favorable evidence for clinical diagnosis and treatment of AL.