RUNX1 together with DAT mutations predicted poor outcome in acute myeloid leukemia

Jinyan Xiao; Jundan Xie; Biqi Zhou; Yujie Liu; Jing Lu; Airui Jiang; Hong Yao; Qiaocheng Qiu; Zixuan Ding; Shengli Xue; Xiaowen Tang; Huiying Qiu; Suning Chen; Hongjie Shen; Depei Wu; Yang Xu

doi:10.1080/10428194.2023.2190433

RUNX1 together with DAT mutations predicted poor outcome in acute myeloid leukemia

Leuk Lymphoma. 2023 May;64(5):951-961. doi: 10.1080/10428194.2023.2190433. Epub 2023 Mar 24.

Authors

Jinyan Xiao^{1

2}, Jundan Xie^{1

2}, Biqi Zhou^{1

2}, Yujie Liu^{1

2}, Jing Lu^{1

2}, Airui Jiang^{1

2}, Hong Yao^{1

2}, Qiaocheng Qiu^{1

2}, Zixuan Ding^{1

2}, Shengli Xue^{1

2}, Xiaowen Tang^{1

2}, Huiying Qiu^{1

2}, Suning Chen^{1

2}, Hongjie Shen^{1

2}, Depei Wu^{1

2}, Yang Xu^{1

2}

Affiliations

¹ Jiangsu Institute of Haematology, National Clinical Research Center for Haematologic Diseases, The First Affiliated Hospital of Soochow University, Suzhou, China.
² Institute of Blood and Marrow Transplantation, Collaborative Innovation Center of Haematology, Soochow University, Suzhou, China.

PMID: 36964663
DOI: 10.1080/10428194.2023.2190433

Abstract

We retrospectively explored the prognostic impact of DAT mutations at diagnosis in 122 RUNX1^mut AML patients. RUNX1 missense mutation was dominant in the RUNT domain, and frameshift mutation was dominant in the TAD domain. DAT mutations occurred in 38.5% of RUNX1^mut AML. After propensity score matching, DAT^pos patients had worse two-year relapse-free survival (RFS) than DAT^neg patients (p = .041). Moreover, RUNX1^high (VAF ≥ 37.6%) patients showed poorer two-year overall survival (OS) and RFS than RUNX1^low (VAF < 37.6%) patients (OS, p = .033; RFS, p = .027), especially in the RUNX1^highDAT^pos group. Additionally, multivariate analysis confirmed that DAT mutations at diagnosis were an independent adverse factor for RFS. There were no significant differences in two-year OS and RFS between DAT^pos and DAT^neg patients or between RUNX1^high and RUNX1^low patients who undergoing allogeneic hematopoietic stem cell transplantation (allo-HSCT). Collectively, DAT mutations at diagnosis were adverse factors for RFS, and allo-HSCT could likely improve the poor outcomes of these patients.

Keywords: Acute myeloid leukemia; DAT mutations; RUNX1 mutation; allo-HSCT.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Core Binding Factor Alpha 2 Subunit / genetics
Hematopoietic Stem Cell Transplantation*
Humans
Leukemia, Myeloid, Acute* / diagnosis
Leukemia, Myeloid, Acute* / genetics
Leukemia, Myeloid, Acute* / therapy
Mutation
Nucleophosmin
Prognosis
Retrospective Studies

Substances

Core Binding Factor Alpha 2 Subunit
Nucleophosmin
RUNX1 protein, human