CEBPA双突变合并GATA2种系突变急性髓系白血病1例

doi:10.16138/j.1673-6087.2024.03.06

内科理论与实践 ›› 2024, Vol. 19 ›› Issue (03): 185-187.doi: 10.16138/j.1673-6087.2024.03.06

CEBPA双突变合并GATA2种系突变急性髓系白血病1例

安慧慧¹^,², 吴涛¹^,²(), 李芸芸², 刘文慧², 田思锐², 刘洋², 高铭敏²

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

收稿日期:2023-12-25 出版日期:2024-06-28 发布日期:2024-09-09
通讯作者: 吴涛 E-mail：wutaozhen@yeah.net
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)

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

AN Huihui¹^,², WU Tao¹^,²(), LI Yunyun², LIU Wenhui², TIAN Sirui², LIU Yang², GAO Mingmin²

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:2023-12-25 Online:2024-06-28 Published:2024-09-09

摘要/Abstract

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

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

中图分类号:

R733.71

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.

AN Huihui, WU Tao, LI Yunyun, LIU Wenhui, TIAN Sirui, LIU Yang, GAO Mingmin. Acute myeloid leukemia with CEBPA double mutation combined with GATA2 germline mutation: one case report[J]. Journal of Internal Medicine Concepts & Practice, 2024, 19(03): 185-187.

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CEBPA双突变合并GATA2种系突变急性髓系白血病1例

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

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