内科理论与实践

内科理论与实践 >

2024 , Vol. 19 >Issue 03: 185 - 187

DOI: https://doi.org/10.16138/j.1673-6087.2024.03.06

病例报告

CEBPA双突变合并GATA2种系突变急性髓系白血病1例

  • 安慧慧 ,
  • 吴涛 ,
  • 李芸芸 ,
  • 刘文慧 ,
  • 田思锐 ,
  • 刘洋 ,
  • 高铭敏
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  • 1.兰州大学第二医院（第二临床医学院），甘肃 兰州 730030
    2.中国人民解放军联勤保障部队第九四〇医院血液科，甘肃 兰州 730050
吴涛 E-mail：wutaozhen@yeah.net

收稿日期: 2023-12-25

  网络出版日期: 2024-09-09

基金资助

甘肃省科技计划（创新基地和人才计划）项目(21JR7RA015);甘肃省科技计划项目(22YF7FA106);联勤保障部队第九四〇医院科研项目(2021yxky078)

收起

Acute myeloid leukemia with CEBPA double mutation combined with GATA2 germline mutation: one case report

  • AN Huihui ,
  • WU Tao ,
  • LI Yunyun ,
  • LIU Wenhui ,
  • TIAN Sirui ,
  • LIU Yang ,
  • GAO Mingmin
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  • 1. The Second Hospital of Lanzhou University (the Second Clinical Medical College), Lanzhou 730030, China
    2. Department of Hematology, the 940th Hospital of the Joint Logistics Support Force of Chinese People’s Liberation Army, Lanzhou 730050, China

Received date: 2023-12-25

  Online published: 2024-09-09

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摘要

患者确诊为急性髓系白血病伴有CEBPA双突变、GATA2、IKZF1突变，给予2个疗程的IA方案（去甲氧柔红霉素、阿糖胞苷）治疗后复发，又给予4个疗程的阿扎胞苷联合venetodax治疗出现短暂缓解，后因未规律治疗再次复发。本文主要分析CEBPA双突变联合GATA2种系突变在急性髓系白血病中的治疗及预后作用。

关键词： GATA2突变; 急性髓系白血病; 造血干细胞移植; 血液系统恶性疾病; CEBPA

本文引用格式

安慧慧 , 吴涛 , 李芸芸 , 刘文慧 , 田思锐 , 刘洋 , 高铭敏 . CEBPA双突变合并GATA2种系突变急性髓系白血病1例[J]. 内科理论与实践, 2024 , 19(03) : 185 -187 . DOI: 10.16138/j.1673-6087.2024.03.06

Abstract

The patient was diagnosed as acute myeloid leukaemia with CEBPA double mutation, GATA2 and IKZF1 mutation in 2021, and relapsed after giving two courses of IA treatment (idarubicin, cytosine arabinoside). There was transient remission after four additional courses of azacitidine combined with venetoclax. The patient relapsed again due to lack of regular treatment. This paper mainly analyses the therapeutic and prognostic role of CEBPA double mutation combined with GATA2 germline mutation in acute myeloid leukaemia.

Key words： GATA2 mutation; Acute myeloid leukaemia; Haematopoietic stem cell transplantation; Haematological malignancies; CEBPA

参考文献

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