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Published in: International Journal of Hematology 1/2022

21-03-2022 | Acute Myeloid Leukemia | Original Article

Companion gene mutations and their clinical significance in AML with double or single mutant CEBPA

Authors: JinYuan He, Jie Liu, HongJie Shen, Zheng Wang, LiuJun Cao, Pin Wu, HongYing Chao, XuZhang Lu, ZhuXia Jia, MeiYu Chen, Xiaohui Cai

Published in: International Journal of Hematology | Issue 1/2022

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Abstract

Introduction

We report the co-mutations in AML with CEBPAsm or CEBPAdm and their clinical features in a large cohort (n = 302) of CEBPAmut AML patients.

Materials and methods

We retrospectively sequenced 112 genes in 302 patients with CEBPAmut using NGS, and studied the spectrum and clinical impact of co-mutations in CEBPAdm and CEBPAsm.

Results

① The average number of mutations in CEBPAsm and CEBPAdm AML was comparable, but not significant (P = 0.17). ② CEBPAdm patients exhibited more mutations in CSF3R (P = 0.037), GATA2 (P = 0.022), and WT1 (P = 0.046). In contrast, CEBPAsm patients more frequently harbored mutations in NPM1 (P = 0.000), FLT3-ITD (P = 0.025) and NOTCH2 (P = 0.043), as well as mutations in signaling pathways and spliceosomes (P = 0.064, P = 0.027, respectively). ③ Patients with CEBPAsm/TET2mut or CEBPAsm /GATA2mut had higher platelet counts (both P = 0.011), while patients with CEBPAdm /TET2mut had significantly higher hemoglobin levels (P = 0.009). The CR rate of patients with FLT3-ITD mutations was significantly lower in the CEBPAsm group than the CEBPAdm group (P = 0.028).

Conclusions

CEBPAsm and CEBPAdm AML are each associated with their own complex co-mutation cluster. Some co-mutations influence the clinical features and CR rate differently in patients with different CEBPA mutational status.
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Metadata
Title
Companion gene mutations and their clinical significance in AML with double or single mutant CEBPA
Authors
JinYuan He
Jie Liu
HongJie Shen
Zheng Wang
LiuJun Cao
Pin Wu
HongYing Chao
XuZhang Lu
ZhuXia Jia
MeiYu Chen
Xiaohui Cai
Publication date
21-03-2022
Publisher
Springer Nature Singapore
Published in
International Journal of Hematology / Issue 1/2022
Print ISSN: 0925-5710
Electronic ISSN: 1865-3774
DOI
https://doi.org/10.1007/s12185-022-03322-y

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