Heterogeneity analysis of the CEBPA dm AML based on bZIP region mutations

Yan Hui; Shuxin Li; Junping Zhang; Bingcheng Liu; Yingchang Mi; Hui Wei; Jianxiang Wang

doi:10.1097/BS9.0000000000000153

Heterogeneity analysis of the CEBPA dm AML based on bZIP region mutations

Blood Sci. 2023 Mar 6;5(2):101-105. doi: 10.1097/BS9.0000000000000153. eCollection 2023 Apr.

Authors

Yan Hui^{1

2}, Shuxin Li^{1

2}, Junping Zhang^{1

2}, Bingcheng Liu^{1

2}, Yingchang Mi^{1

2}, Hui Wei^{1

2}, Jianxiang Wang^{1

2}

Affiliations

¹ State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China.
² Tianjin Institutes of Health Science, Tianjin 301600, China.

Abstract

Patients with double-mutated CEBPA (CEBPAdm) AML were stratified into favorable risk group, however, few studies have investigated the heterogeneity of different CEBPAdm types in detail. In this study, we analyzed 2211 newly diagnosed AML and identified CEBPAdm in 10.8% of the patients. Within the CEBPAdm cohort, 225 of 239 patients (94.14%) presented with bZIP region mutations (CEBPAdmbZIP) while 14 of 239 patients (5.86%) without bZIP region mutation (CEBPAdmnonbZIP). Analysis of the accompanied molecular mutations showed statistically different incidences of GATA2 mutations between the CEBPAdmbZIP group and the CEBPAdmnonbZIP group (30.29% vs 0%). In the analysis of outcomes, patients with CEBPAdmnonbZIP were associated with shorter overall survival (OS) censored at hematopoietic stem cell transplantation (HSCT) during CR1 compared to those with CEBPAdmbZIP (hazard ratio (HR) = 3.132, 95% confidence interval (CI) = 1.229-7.979, P = .017). Refractory or relapsed AML (R/RAML) patients with CEBPAdmnonbZIP were associated with shorter OS compared to those with CEBPAdmbZIP (HR = 2.881, 95% CI = 1.021-8.131, P = .046). Taken together, AML with CEBPAdmbZIP and CEBPAdmnonbZIP showed different outcomes and might be regarded as distinctive AML entities.

Keywords: Acute myeloid leukemia; CEBPA mutations; Heterogeneity; Outcome.

Copyright © 2023 The Authors. Published by Wolters Kluwer Health Inc., on behalf of the Chinese Medical Association (CMA) and Institute of Hematology, Chinese Academy of Medical Sciences & Peking Union Medical College (IHCAMS).