首页|TP53基因突变急性髓系白血病患者临床及分子生物学特征分析

TP53基因突变急性髓系白血病患者临床及分子生物学特征分析

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目的:分析TP53基因突变急性髓系白血病(acute myeloid leukemia,AML)患者临床及分子生物学特征.方法:回顾性分析 2017年 7月至 2023年 5月就诊于徐州医科大学附属淮安医院 256例初发AML患者临床资料,均行聚合酶链式反应(poly-merase chain reaction,PCR)结合一代测序技术检测,统计TP53基因突变频率,分析TP53基因突变患者临床、实验室特征、分子学特征、核型特征及总生存期.结果:TP53基因突变频率为 7.8%;TP53基因突变组年龄、世界卫生组织(WHO)分型,白细胞(white blood cell,WBC)计数和骨髓原始细胞与TP53基因无突变组具有显著性差异(P<0.05);TP53基因突变组中检测出BCR-ABL、NPM1突变、CEBPA突变、RUNX1-RUNX1T1、MLL相关融合基因、FLT3-ITD突变及CBFβ-MYH11突变分子学异常发生率与TP53基因无突变组无显著性差异(P>0.05);TP53基因突变组中单体核型、复杂核型、异常核型、-17/17p-、-7/7q-和-3/3q-检出率与TP53基因无突变组具有显著性差异(P<0.05);TP53基因无突变组总生存期显著优于TP53基因突变组患者(P<0.05);单因素和多因素Cox回归分析结果显示,WBC和TP53基因突变均为AML患者的独立影响因素(均P<0.05).TP53基因突变AML患者具有一定临床及分子生物学特征,伴有TP53基因突变患者生存预后不佳.
Analysis of clinical and molecular biological characteristics of patients with acute myel-oid leukemia complicated with TP53gene mutations
Objective:To analyze the clinical and molecular biological characteristics of patients with acute myeloid leukemia(AML)complic-ated with TP53mutations.Methods:We retrospectively analyzed the clinical data of 256 patients who were initially diagnosed with AML us-ing polymerase chain reaction(PCR)combined with gene sequencing technology at Huai'an Hospital Affiliated to Xuzhou Medical University from July 2017 to May 2023.The mutation detection rate of the TP53 gene was determined,and clinical,laboratory,molecular,karyotype,and overall survival of patients with TP53 gene mutations were analyzed.Results:The TP53 gene mutation detection rate was 7.8%.The TP53gene mutation and non-mutation groups differed significantly in age,WHO type,white blood cell(WBC)count,and origin of bone mar-row cells(P<0.05).However,the two groups did not significantly differ in the incidence rates of BCR-ABL,NPM1 mutation,CEBPA mutation,RUNX1-RUNX1T1,MLL-related fusion gene,FLT3-ITD mutation,and CBFβ-MYH11 mutation(P>0.05).The detection rates of the monomer karyotype,complex karyotype,and abnormal karyotypes-17/17p-,-7/7q-,and-3/3q-in the TP53 gene mutation group significantly differed from those in the TP53 gene non-mutation group(P<0.05).The TP53 gene non-mutation group had a significantly better total survival time than the TP53 gene mutation group(Log-rank χ2=3.867,P<0.05).The univariate and multivariate Cox regression analyses identified the WBC count and TP53 gene mutations as independent influencing factors for patients with AML(both P<0.05).Conclusions:Patients with AML car-rying TP53 gene mutations exhibit specific clinical and molecular biological characteristics and have a poor prognosis.

TP53gene mutationacute myeloid leukemia(AML)karyotypeprognosis

徐蕾、林国祥

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徐州医科大学附属淮安医院(淮安市第二人民医院)检验科(江苏省淮安市 223022)

徐州医科大学附属淮安医院(淮安市第二人民医院)血液科(江苏省淮安市 223022)

TP53 基因突变 急性髓系白血病 核型 预后

2024

中国肿瘤临床
中国抗癌协会

中国肿瘤临床

CSTPCD北大核心
影响因子:1.32
ISSN:1000-8179
年,卷(期):2024.51(6)
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