CASE REPORT article
Front. Oncol.
Sec. Hematologic Malignancies
Volume 15 - 2025 | doi: 10.3389/fonc.2025.1672416
Case report: A rare RUNX1 rearrangement resulting from t(8;21)(p12;q22) in acute myeloid leukemia with plasmacytoid dendritic cell expansion
Provisionally accepted
- 1Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, China
- 2Hematology Pathology Diagnostic Center, Tianjin Union Precision Medical Diagnostics Co., Ltd, Tianjin, China
- 3Department of Medical Oncology, Beidahuang Industry Group General Hospital, Harbin, China
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In recent years, acute myeloid leukemia with plasmacytoid dendritic cell expansion (pDC-AML) has been recognized as a rare provisional subtype of AML, comprising approximately 3–5% of all reported cases and associated with a poorer clinical outcome compared with non–pDC-AML. Both RUNX1 mutations and rare rearrangements can lead to either complete loss or dominant-negative inhibition of RUNX1 function in pDC-AML, which may play a pivotal role in the aberrant expansion or malignant transformation of plasmacytoid dendritic cells (pDCs). To date, only two cases of pDC-AML with rare RUNX1 rearrangements have been reported. Herein, we reported a rare RUNX1 rearrangement resulting from t(8;21)(p12;q22) in a patient with pDC-AML, leading to the truncated RUNX1 that exhibit structural and functional similarities to RUNX1A and may act as a dominant-inhibitor of wild-type RUNX1. Given the poor prognosis associated with this subtype, CD123-targeted therapy, such as tagraxofusp-erzs, alone or in combination with agents like azacitidine and venetoclax, may represent a rational therapeutic approach. To our knowledge, this represents the third case report of RUNX1 rearrangement in pDC-AML and may provide valuable insights for future research.
Keywords: RUNX1 rearrangement, plasmacytoid dendritic cell expansion, RUNX1A, Acute Myeloid Leukemia, RUNX1 mutation
Received: 24 Jul 2025; Accepted: 08 Sep 2025.
Copyright: © 2025 Gong, Liu, Lu, Wei, Wu, Zou, Feng, Guoqing and Han. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Zhu Guoqing, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, China
Jing Han, Department of Medical Oncology, Beidahuang Industry Group General Hospital, Harbin, China
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