急性髓细胞性白血病基因表达特点分析

Analysis of gene expression characteristics in acute myeloid leukemia

目的探讨急性髓细胞性白血病（AML）患者的基因表达特点及临床意义。方法选取2014年3月-2015年1月山西医科大学第二医院收治的94例初发AML患者,采用逆转录-多聚酶链反应（RT-PCR）方法检测WT1、P53、DNMT3A、NPM1、PML/RARa、FLT3-ITD、C-KIT、AML1/ETO、TET2、ASXL1基因的表达情况。结果 AML患者（急性早幼粒细胞白血病除外）中WT1阳性最常见（69.1%）,其次为AML1/ETO阳性（24.5%）、NPM1阳性（14.9%）、FLT3-ITD突变阳性（14.9%）;其中,1个基因阳性者最常见,占46.8%,2个基因阳性者占28.7%,3个及以上基因阳性者占20.2%;DNMT3A、NPM1多表达于AML-M4,C-KIT、AML1/ETO阳性多见于AML-M2;APL患者PML/RARa融合基因占100%,其中同时FLT3-ITD突变者3例,占27.27%;94例AML患者中,65例WT1表达阳性,其中19例初诊阴性的患者在随访过程中随着WT1增高而呈复发或复发倾向;另外46例初发时WT1升高患者经诱导治疗后34例获得第1次完全缓解或者部分缓解,并且WT1降低。结论基因表达在AML的诊断和疗效评估中起重要作用。

Objective To investigate the gene expression characteristics of acute myeloid leukemia（AML） and their clinical significance.Methods Reverse transcription polymerase chain reaction（RT-PCR） was used to detect WT1,P53,DNMT3 A,NPM1,PML/RARa,FLT3-ITD,C-KIT,AML1/ETO,TET2,ASXL1 gene expressions in 94 new diagnosed AML patients in the Second Hospital of Shanxi Medical University from March 2014 to January 2015.Results AML patients（except for acute promyelocytic leukemia） with WT1 positivewere the most common（69.1%）,followed by AML1/ETO positive（24.5%）,NPM1 positive（14.9%）,FLT3-ITD positive（14.9%）.Moreover,one gene positive patients were the most common（46.8%）,2 gene positive patients accounted for 28.7%,3 or more gene positive patients accounted for 20.9%.Furthermore,DNMT3 A,NPM1 expressed more in AML-M4.C-KIT,AML1/ETO expressed more in AMLM2.PML/RARa fusion gene was 100%in APL patients,and 3 patients with FLT3-ITD mutation,accounted for 27.27%.Among all 94 AML patients,WT1 gene expression was positive in 65 patients.19 new diagnosed AML patients whose WT1 were negative showed recurrence or tendency of recurrence with the increase of WT1 in the follow-up process.In46 new diagnosed AML patients whose WT1 gene expressions were positive transfered to negative when 34 cases among these patients got complete remission or partial remission after inductive chemotherapy,and WT1 was decreased.Conclusion Gene expression plays an important role in the diagnosis and effect evaluation of acute myeloid leukemia.