{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T02:18:38Z","timestamp":1791253118511,"version":"4.1.0"},"reference-count":21,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,1,26]],"date-time":"2023-01-26T00:00:00Z","timestamp":1674691200000},"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 typically characterized by the presence of coagulopathy and the <jats:italic>PML::RARA<\/jats:italic> fusion gene. The <jats:italic>FIP1L1::RARA<\/jats:italic> has been reported as a novel fusion gene, but studies on its pathogenesis are limited.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>A <jats:italic>FIP1L1::RARA<\/jats:italic> fusion in a child finally diagnosed as APL was reported. RNA sequencing (RNA-seq) of six patients (three cases of acute lymphoblastic leukemia (ALL), one case of myelodysplastic syndrome (MDS), one case of acute megakaryoblastic leukemia (M7), and one case of APL with <jats:italic>FIP1L1::RARA)<\/jats:italic> were performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Transcriptome analysis of six patients was performed by RNA-seq. The heat map was used for showing the RNA expression profile, the volcano plot for identifying differential expression genes (DEGs), and the KEGG Orthology-Based Annotation System (KOBAS) online biological information database for KEGG pathway enrichment analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Obvious differences between APL with <jats:italic>FIP1L1::RARA<\/jats:italic> and hematologic malignancies were identified. 1060 common differentially expressed genes (co-DEGs) were detected between APL with <jats:italic>FIP1L1::RARA<\/jats:italic> vs ALL and APL with <jats:italic>FIP1L1::RARA<\/jats:italic> vs myeloid neoplasms (MDS, M7), the up-regulated genes were mainly mapped into platelet activation, cancer, AMPK signaling pathway, PI3K-Akt signaling pathway, and MAPK signaling pathway. The down-regulated genes were significantly associated with TNF signaling pathway, Rap1 signaling pathway, Age-RAGE signaling pathway, and apoptosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>A <jats:italic>FIP1L1::RARA<\/jats:italic> fusion in a child finally diagnosed as APL was reported. RNA-seq may provide a new diagnostic method when <jats:italic>RARA<\/jats:italic> rearrangements fail to be identified by conventional methods. In the analysis of co-DEGs between case vs ALL and case vs myeloid neoplasms, the up-regulated and down-regulated genes were enriched in different signaling pathways. Further experimental studies are needed to identify pathogenesis and treatment for APL with <jats:italic>FIP1L1::RARA<\/jats:italic>.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fonc.2022.1049473","type":"journal-article","created":{"date-parts":[[2023,1,26]],"date-time":"2023-01-26T15:59:59Z","timestamp":1674748799000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["Acute promyelocytic leukemia with FIP1L1::RARA fusion gene: The clinical utility of transcriptome sequencing and bioinformatic 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