初治急性髓系白血病患者CEBPA基因突变检测及其临床意义

doi:10.13481/j.1671-587x.20140233

吉林大学学报(医学版)

初治急性髓系白血病患者CEBPA基因突变检测及其临床意义

胡瑞萍¹,崔久嵬^１,李薇¹,张福明¹,韩薇¹,杜忠华¹,韩秀丽¹,刘晓玲¹,李红兵¹,续薇²

1.吉林大学第一医院肿瘤中心，吉林长春 130021；2.吉林大学第一医院检验科，吉林长春 130021

收稿日期:2013-11-14 出版日期:2014-03-28 发布日期:2014-05-28
通讯作者: 续薇（Tel :0431-88782622，E-mail：xuwei0210@sina.com ） E-mail:xuwei0210@sina.com
作者简介:胡瑞萍（1983-），女，吉林省长春市人，技师，医学硕士，主要从事肿瘤与白血病基因的研究。
基金资助:
吉林省科技厅中青年领军人才创新团队项目资助课题（20111807）

Detection of CEBPA gene mutation in patients with newly diagnosed acute myeloid leukemia and its clinical significance

HU Rui-ping¹,CUI Jiu-wei¹,LI Wei^1,ZHANG Fu-ming¹,HAN Wei¹,DU Zhong-hua¹,HAN Xiu-li¹,LIU Xiao-ling¹,LI Hong-bing¹,XU Wei²

1.Tumor Center,First Hospital,Jilin University,Changchun 130021,China; 2.Department of Laboratory,First Hospital,Jilin University,Changchun 130021,China

Received:2013-11-14 Online:2014-03-28 Published:2014-05-28

摘要/Abstract

摘要：

目的:探讨急性髓系白血病(AML)患者CCAAT/增强子结合蛋白-α(CEBPA)基因突变的情况,阐明其临床意义。方法:无菌采集279例AML患者和40名对照者骨髓或外周血样本，瑞士染色分析细胞形态学及骨髓幼稚细胞(BM Blast)比例；采用PCR联合序列分析法检测CEBPA、FLT3-ITD、NPM1和C-KIT基因突变情况；G显带技术进行染色体核型分析。结果:279例初治AML患者中35例检测到CEBPA基因突变，总检出率为12.5%，其在M2型患者中的检出率显著高于其他亚型(P<0.05)。35例突变患者中31例为双突变，其余4例为单突变，对照者CEBPA突变均为阴性。CEBPA基因突变常见于正常核型患者。与CEBPA野生型患者比较，CEBPA双突变患者的白细胞(WBC)计数、红细胞(RBC)计数及血红蛋白(HGB)水平升高(P<0.05)，年龄、血小板(PLT)计数降低(P<0.05)，而性别、BM blast比例及FLT3-ITD、NPM1、C-KIT基因突变发生率组间比较差异无统计学意义(P>0.05）。在治疗方面，CEBPA双突变型与野生型患者首疗程诱导缓解率分别为84.0%和80.5% (P>0.05）。结论：CEBPA基因突变主要见于M2亚型的AML患者，常见突变形式为双等位基因突变，CEBPA双突变型与野生型患者有不同临床特征，表现为WBC、RBC计数和HGB水平较高，年龄和PLT计数较低。

关键词: 白血病, 急性髓系, CCAAT/增强子结合蛋白-&alpha, 基因突变, 序列分析

Abstract:

Objective To investigate the CCAAT-enhancer binding protein-alpha(CEBPA) gene mutation in the patients with acute myeloid leukemia( AML) and to clarify its clinical significance．Methods The bone marrow or peripheral blood samples were collected from 279 AML patients and 40 healthy volunteers, respectively.The cell morphology and the proportion of bone marrow blast counts (BM blast) were observed by Switzerland staining.CEBPA,FLT3-ITD,NPM1 and C-KIT gene mutations were detected by PCR and sequence analysis.Karyotype analysis was performed by G-banding technique.Results Among 279 newly diagnosed AML patients,35(12.5%) had CEBPA gene mutation.The detection rate in M2 subtype patients was significantly higher than those in other subtypes patients(P<0.05).Of 35 CEBPA mutation patients,31 had double mutations, and the remaining 4 had single mutation.CEBPA mutations were all negative in 40 healthy volunteers.CEBPA mutation was common in normal karyotype patients. Compared with the patients with wild-type CEBPA gene,the patients with CEBPA double mutations had higher white blood cell(WBC) count,red blood cell (RBC) count,and hemoglobin (HGB) level (P<0.05) and lower age and platelet(PLT) count(P<0.05).However,there was no difference between the patients with and without CEBPA mutation in the gender,proportion of BM blast and the incidence of FLT3-ITD,NPM1,and C-KIT gene mutations (P>0.05).In terms of treatment,the remission rates of first induction treatment were 84.0% and 80.5% in CEBPA double mutation and wild-type patients,there was no statistically significant difference between two groups (P> 0.05).Conclusion CEBPA gene mutation is mainly seen in M2 subtype AML patients.CEBPA common mutation is biallelic mutation.CEBPA double mutation and wild-type patients have different clinical characteristics.The patients with CEBPA double mutations have higher WBC count,RBC count,and HGB level and lower age and PLT count.

Key words: leukemia,acute myeloid, CCAAT-enhancer binding protein-alpha, gene mutation, sequence analysis

中图分类号:

R733

胡瑞萍,崔久嵬,李薇,张福明,韩薇,杜忠华,韩秀丽,刘晓玲,李红兵,续薇. 初治急性髓系白血病患者CEBPA基因突变检测及其临床意义[J]. 吉林大学学报(医学版), 2014, 40(02): 389-394.

HU Rui-ping1,CUI Jiu-wei1,LI Wei1,ZHANG Fu-ming,HAN Wei,DU Zhong-hua,HAN Xiu-li,LIU Xiao-ling,LI Hong-bing,XU Wei. Detection of CEBPA gene mutation in patients with newly diagnosed acute myeloid leukemia and its clinical significance[J]. Journal of Jilin University Medicine Edition, 2014, 40(02): 389-394.

[1]	潘志鹏,王乐,黄伟文,易臻,高雨萱. 基于急性髓系白血病患者骨髓单个核细胞中诊断候选基因筛选鉴定及其对预后影响的生物信息学分析和实验验证[J]. 吉林大学学报(医学版), 2026, 52(3): 791-805.
[2]	葛睿涵,李晨,王生鹏,卢洋,谭彩霞,崔皓天,王新敏,章乐. 基于卡介苗感染过程中MAPK-Mcl-1信号通路和巨噬细胞极化调控机制的生物信息学分析及其实验验证[J]. 吉林大学学报(医学版), 2026, 52(2): 440-450.
[3]	王潇,熊婵玉,张赟,纪娟娟,周玉. 常见消化系统肿瘤患者TP53和KRAS基因突变的全外显子杂交捕获基因测序及其临床意义[J]. 吉林大学学报(医学版), 2025, 51(2): 471-478.
[4]	周鑫辰,董姝含,张卓,沈明妹,汪香君,李迎,刘丽梅. 基于蒲公英-桑叶治疗急性髓系白血病潜在机制的网络药理学分析[J]. 吉林大学学报(医学版), 2024, 50(4): 1087-1097.
[5]	于国兴,张鑫,杜恒玮,崔冰洁,高娜,刘翠兰,杜静. 尿石素C对人急性髓系白血病HL-60细胞增殖、凋亡和自噬的影响及其机制[J]. 吉林大学学报(医学版), 2024, 50(4): 908-916.
[6]	李倩,康春阳,刘晓阳,王立波,陈加俊,李佳. PRKN基因复合杂合突变致青少年型帕金森病1例报告及文献复习[J]. 吉林大学学报(医学版), 2024, 50(1): 248-253.
[7]	封忠昕,李梅. 可溶性CD40配体通过长链非编码RNA linc00239对THP-1细胞生物学行为的影响[J]. 吉林大学学报(医学版), 2024, 50(1): 88-96.
[8]	李欣彤,汤赢,唐彤宇,陈更. 遗传性出血性毛细血管扩张症所致消化道出血的研究进展[J]. 吉林大学学报(医学版), 2023, 49(5): 1394-1399.
[9]	王旭颖,荆明箴,余谨,付荣,杨茹. miR-181a-5p和BACH2表达对白血病CCRF-CEM细胞凋亡和侵袭的影响[J]. 吉林大学学报(医学版), 2023, 49(4): 840-849.
[10]	全海薇,张亚丽,王涵,艾一玖,邹雨彤,夏薇. 急性髓系白血病患者外周血外泌体中miR-4286表达水平检测及其诊断价值[J]. 吉林大学学报(医学版), 2023, 49(2): 460-466.
[11]	王涵,张亚丽,全海薇,母润红,邹雨彤,夏薇. 急性髓系白血病患者血清外泌体中miR-92a-3p的表达及其意义[J]. 吉林大学学报(医学版), 2023, 49(2): 467-472.
[12]	汪洺卉,刘墨祎,王鹤霖,李迎,汪香君,惠赫童,范馨元,王添琦,刘丽梅. 基于锦灯笼对白血病作用机制的网络药理学和分子对接技术的生物信息学分析[J]. 吉林大学学报(医学版), 2023, 49(1): 74-83.
[13]	李玮柏,曹娟,郭秀,林欣萍,董春玲,李波. 肿瘤相关巨噬细胞来源IL-6通过上调肿瘤细胞中LIF表达对口腔鳞状细胞癌Cal27细胞侵袭和迁移的促进作用[J]. 吉林大学学报(医学版), 2022, 48(4): 946-953.
[14]	王一涵,王奕丹,惠赫童,范馨元,王添琦,夏薇,刘丽梅. 急性淋巴细胞白血病移植瘤模型小鼠髓外浸润过程中血清Wnt5A和LINE-1启动子甲基化水平检测及其意义[J]. 吉林大学学报(医学版), 2022, 48(2): 284-290.
[15]	冯术青,姚艳红,史月,刘志彬,高峰. 实时荧光定量PCR法检测外周血中BCR/ABL基因表达在Ph⁺急性淋巴细胞白血病患者造血干细胞移植治疗中的应用[J]. 吉林大学学报(医学版), 2022, 48(1): 180-187.

初治急性髓系白血病患者CEBPA基因突变检测及其临床意义

Detection of CEBPA gene mutation in patients with newly diagnosed acute myeloid leukemia and its clinical significance

PDF (PC)

赞

可视化

摘要/Abstract

引用本文

使用本文

参考文献

相关文章 15

Metrics

本文评价

推荐阅读 10