ORIGINAL RESEARCH article
Front. Oncol.
Sec. Hematologic Malignancies
Volume 15 - 2025 | doi: 10.3389/fonc.2025.1566404
A case report of TBL1XR1-RARB positive pediatric acute promyelocytic leukemia and literature review
Provisionally accepted
- 1Mianyang Central Hospital, Mianyang, China
- 2Kingmed Center for Clinical Laboratory CO., Sichuan, China
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Acute promyelocytic leukemia (APL) is typically driven by the PML-RARA fusion and characterized by maturation arrest of myeloid precursors. We report a novel case of TBL1XR1-RARB-positive vAPL presenting with neutrophilic leukocytosis (15.44×10⁹/L) and absence of peripheral promyelocytes. The patient exhibited fever as the sole symptom, an atypical CD45⁻/CD117⁻ immunophenotype, and a concurrent KRAS p.G12D mutation. Despite initial ATRA/ATO response, relapse occurred during maintenance, underscoring the therapeutic challenges of this rare variant. Our comprehensive literature review synthesizes data from all reported TBL1XR1-RARB cases, revealing key patterns: predominant pediatric occurrence (median age 2.7 years), frequent ATRA/ATO resistance (55% response rate), and high relapse risk (44%). This study provides critical insights into the molecular heterogeneity, clinical course, and therapeutic challenges of TBL1XR1-RARB vAPL, offering guidance for the management of this rare but clinically significant entity.
Keywords: TBL1XR1-RARB fusion, Atypical acute promyelocytic leukemia, Clinical Characteristics, immunophenotype, Treatment
Received: 24 Jan 2025; Accepted: 08 Aug 2025.
Copyright: © 2025 Du, Liu, Huang, Zeng, Fan and Hu. 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:
Jiamei Fan, Kingmed Center for Clinical Laboratory CO., Sichuan, China
Tao Hu, Mianyang Central Hospital, Mianyang, China
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