老年急性髓系白血病患者生物学特征的相关性分析及其预后影响。
Correlation Analysis and Prognostic Impacts of Biological Characteristics in Elderly Patients with Acute Myeloid Leukemia.
机构信息
Department of Hematology, Anhui Provincial Hospital Affiliated to Anhui Medical University, Hefei, People's Republic of China.
Department of Hematology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, People's Republic of China.
出版信息
Clin Interv Aging. 2022 Aug 7;17:1187-1197. doi: 10.2147/CIA.S375000. eCollection 2022.
BACKGROUND
The significant heterogeneity of elderly AML patients' biological features has caused stratification difficulties and adverse prognosis. This paper did a correlation study between their genetic mutations, clinical features, and prognosis to further stratify them.
METHODS
90 newly diagnosed elderly acute myeloid leukemia (AML) patients (aged ≥60 years) who detected genetic mutations by next-generation sequencing (NGS) were enrolled between April 2015 and March 2021 in our medical center.
RESULTS
A total of 29 genetic mutations were identified in 82 patients among 90 cases with a frequency of 91.1%. DNMT3A, BCOR, U2AF1, and BCORL1 mutations were unevenly distributed among different FAB classifications ( < 0.05). DNMT3A, IDH2, NPM1, FLT3-ITD, ASXL1, IDH1, SRSF2, BCOR, NRAS, RUNX1, U2AF1, MPO, and WT1 mutations were distributed differently when an immunophenotype was expressed or not expressed (<0.05). NPM1 and FLT3-ITD had higher mutation frequencies in patients with normal chromosome karyotypes than abnormal chromosome karyotypes (<0.001, =0.005). DNMT3A and NRAS mutations predicted lower CR rates. DNMT3A, TP53, and U2AF1 mutations were related to unfavorable OS. TET2 mutation with CD123+, CD11b+ or CD34- predicted lower CR rate. IDH2+/CD34- predicted lower CR rate. ASXL1+/CD38+ and SRSF2+/CD123- predicted shorter OS.
CONCLUSION
The study showed specific correlations between elderly AML patients' genetic mutations and clinical features, some of which may impact prognosis.
背景
老年 AML 患者的生物学特征存在显著异质性，导致分层困难和预后不良。本研究对其基因突变、临床特征与预后进行相关性研究，以进一步对其进行分层。
方法
本研究纳入了 2015 年 4 月至 2021 年 3 月在我院经下一代测序（NGS）检测到基因突变的 90 例新诊断的老年急性髓系白血病（AML）患者（年龄≥60 岁）。
结果
在 90 例病例中，有 82 例患者共检测到 29 种基因突变，发生率为 91.1%。DNMT3A、BCOR、U2AF1 和 BCORL1 基因突变在不同 FAB 分类中分布不均（<0.05）。DNMT3A、IDH2、NPM1、FLT3-ITD、ASXL1、IDH1、SRSF2、BCOR、NRAS、RUNX1、U2AF1、MPO 和 WT1 基因突变在免疫表型表达或不表达时分布不同（<0.05）。正常染色体核型患者 NPM1 和 FLT3-ITD 基因突变频率高于异常染色体核型患者（<0.001，=0.005）。DNMT3A 和 NRAS 基因突变预测较低的 CR 率。DNMT3A、TP53 和 U2AF1 基因突变与不良 OS 相关。TET2 突变伴 CD123+、CD11b+或 CD34-预测较低的 CR 率。IDH2+/CD34-预测较低的 CR 率。ASXL1+/CD38+和 SRSF2+/CD123-预测较短的 OS。
结论
本研究表明老年 AML 患者的基因突变与临床特征存在特定的相关性，其中一些可能影响预后。
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