{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,30]],"date-time":"2025-08-30T00:03:21Z","timestamp":1756512201265,"version":"3.44.0"},"reference-count":38,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T00:00:00Z","timestamp":1756425600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Oncol."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Our patient presented with neutrophilic leukocytosis (15.44\u00d710\u2079\/L) and an absence of peripheral promyelocytes, exhibiting fever as the sole symptom, an atypical CD45\u207b\/CD117\u207b 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%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fonc.2025.1566404","type":"journal-article","created":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T04:11:55Z","timestamp":1756440715000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["A case report of TBL1XR1-RARB positive pediatric acute promyelocytic leukemia and literature review"],"prefix":"10.3389","volume":"15","author":[{"given":"Chunyan","family":"Du","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fu","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linlin","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruxue","family":"Zeng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiamei","family":"Fan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tao","family":"Hu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,8,29]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2008-04-150250","article-title":"Management of acute promyelocytic leukemia: recommendations from an expert panel on behalf of the European LeukemiaNet","volume":"113","author":"Sanz","year":"2009","journal-title":"Blood"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.3390\/cancers12030624","article-title":"Acute promyelocytic leukemia: A constellation of molecular events around a single PML-RARA fusion gene","volume":"12","author":"Liquori","year":"2020","journal-title":"Cancers (Basel)"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1016\/s1470-2045(18)30295-x","article-title":"Oral arsenic plus retinoic acid versus intravenous arsenic plus retinoic acid for non-high-risk acute promyelocytic leukaemia: a non-inferiority, randomised phase 3 trial","volume":"19","author":"Zhu","year":"2018","journal-title":"Lancet Oncol"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-02-699439","article-title":"The 12-year follow-up of survival, chronic adverse effects, and retention of arsenic in patients with acute promyelocytic leukemia","volume":"128","author":"Zhu","year":"2016","journal-title":"Blood"},{"key":"B5","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1016\/j.hemonc.2020.05.007","article-title":"Genotypic and phenotypic characteristics of acute promyelocytic leukemia translocation variants","volume":"13","author":"Mannan","year":"2020","journal-title":"Hematol Oncol Stem Cell Ther"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1186\/s40364-021-00284-x","article-title":"Current views on the genetic landscape and management of variant acute promyelocytic leukemia","volume":"9","author":"Xiang","year":"2021","journal-title":"biomark Res"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2024023883","article-title":"Critical role of tripartite fusion and LBD truncation in certain RARA- and all RARG-related atypical APL","volume":"144","author":"Zhou","year":"2024","journal-title":"Blood"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2024.148707","article-title":"Analysis of genes differentially expressed in the cortex of mice with the Tbl1xr1Y446C\/Y446C variant","volume":"927","author":"Hu","year":"2024","journal-title":"Gene"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2008.01.020","article-title":"TBL1 and TBLR1 phosphorylation on regulated gene promoters overcomes dual CtBP and NCoR\/SMRT transcriptional repression checkpoints","volume":"29","author":"Perissi","year":"2008","journal-title":"Mol Cell"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1159\/000516655","article-title":"Re: international system for human cytogenetic or cytogenomic nomenclature (ISCN): some thoughts, by T. 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