ArticleFrontiers in oncology2025
A case report of TBL1XR1-RARB positive pediatric acute promyelocytic leukemia and literature review.
Article in Frontiers in oncology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Acute promyelocytic leukemia (APL) is classically driven by the PML-RARA fusion oncogene and characterized by a maturation arrest of myeloid precursors. Variant APL (vAPL) with alternative RARA rearrangements presents diagnostic and therapeutic challenges. Methods: We report a novel case of TBL1XR1-RARB-positive vAPL and conducted a comprehensive literature review to synthesize clinical and molecular data from all previously reported cases of this rare entity. Results: Our patient presented with neutrophilic leukocytosis (15.44×10⁹/L) and an absence of peripheral promyelocytes, exhibiting fever as the sole symptom, an atypical CD45⁻/CD117⁻ immunophenotype, and a concurrent KRAS p.G12D mutation. Despite an initial response to ATRA/ATO therapy, relapse occurred during maintenance. Our literature review of all reported cases revealed key patterns: a predominant pediatric occurrence (median age 2.7 years), frequent ATRA/ATO resistance (55% response rate), and a high risk of relapse (44%). Conclusion: This study underscores the molecular heterogeneity and distinct clinical course of TBL1XR1-RARB-positive vAPL. It highlights significant therapeutic challenges, including a high rate of primary resistance and relapse, and provides critical guidance for the management of this rare but clinically significant disease.
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