老年急性髓系白血病分子学特征及临床意义

Molecular Features and Clinical Significance of Acute Myeloid Leukemia in Elderly Patients

目的:研究老年急性髓系白血病(AML)患者分子学特征及临床意义。方法:借助双脱氧链终止测序方法研究52例老年AML患者的分子学特征,结合临床资料分析51个血液病相关基因的突变情况及临床意义,并对39例接受DCAG方案化疗的患者进行疗效分析。结果:老年AML患者有较高的突变频率[98.1%(51/52)],不同的突变基因之间存在一些共存或互斥现象。突变个数随着年龄增长而增加,表观遗传学突变DNMT3A、TET2(P<0.01)及FLT3-ITD(P<0.05)发生率亦随着年龄增长而增高。c-KIT突变在低危核型组AML最常见(P<0.01),而NPM1和DNMT3A等突变则常见于中危组(P<0.05),尤其在核型正常的AML中多见。接受DCAG方案化疗的老年AML患者有较高的完全缓解率[71.8%(28/39)]。结论:老年AML患者具有特定的分子学特征,甲基化相关基因突变发生率较高,这对临床诊疗有一定的指导意义。

Objective:To study the molecular characteristics and clinical significance of elderly patients with acute myeloid leukemia(AML).Methods:Dideoxy sequencing was used to analyze the mutation spectrum and clinical significance of 51 hematopathy-related genes in 52 patients with newly diagnosed elderly AML.The efficacy of 39 patients receiving DCAG chemotherapy was also analyzed.Results:The mutational frequency was high in elderly AML patients(98.1%,51/52),and there were some coexistence or mutual exclusion between different mutations.Both the number of mutations and the incidence of epigenetic mutations DNMT3 A,TET2(P<0.01),as well as FLT3-ITD(P<0.05)increased with age.c-KIT mutations were most common in favorable-risk AML(P<0.01),while NPM1 and DNMT3 A were common in intermediate-risk AML(P<0.05),especially in AML with normal karyotype.The complete remission rate of elderly AML patients receiving DCAG chemotherapy was 71.8%(28/39).Conclusion:Elderly AML patients have specific molecular characteristics,and the incidence of methylation-related gene mutations is very high,showing a certain significance for clinical diagnosis and treatment.