{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T16:09:57Z","timestamp":1753891797965,"version":"3.41.2"},"reference-count":20,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,6,24]],"date-time":"2021-06-24T00:00:00Z","timestamp":1624492800000},"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 characterized by the presence of coagulopathy at onset and translocation t (15; 17) (q22; 21), meanwhile, other translocation variants of APL have also been reported. The <jats:italic>FIP1L1\u2013RARA<\/jats:italic> fusion gene has recently been reported as a novel RARA-associated fusion gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>We report a case of <jats:italic>de novo<\/jats:italic> myeloid sarcoma (MS) type of APL with <jats:italic>FIP1L1\u2013RARA<\/jats:italic> found by next-generation sequencing (NGS) that was not detected by conventional analyze analysis for RARA translocations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We performed typical morphological, magnetic resonance imaging (MRI), conventional tests for PML\u2013RARA dual-fusion translocation probe, high-through sequencing and NGS. Meanwhile, bioinformatics analyses were done by using public repositories, including ONCOMINE, COSMIC, and GeneMANIA analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A 28-month-old girl with a complex karyotype that includes 46,XX,t(4;17)(q12;q22)[9]\/46,idem,del(16)(q22)[3]\/45,idem,-x,-4,-9,-15,del(16)(q22),+marl,+mar2,+mar3[7]\/46,xx[3], c.38G&amp;gt;A (p.Gly13Asp) in the <jats:italic>KRAS<\/jats:italic> gene, and a cryptic insertion of <jats:italic>RARA<\/jats:italic> gene into the <jats:italic>FIP1L1<\/jats:italic> gene was diagnosed with APL complicated by the <jats:italic>de novo<\/jats:italic> MS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We report a <jats:italic>FIP1L1\u2013RARA<\/jats:italic> fusion in a child with APL who presented with an extramedullary tumor in the skull without the classic karyotype using NGS, whom we treated with good results. NGS analysis should be considered for APL variant cases. Further experimental studies to the association between the mutation in <jats:italic>KRAS<\/jats:italic> gene and <jats:italic>FIP1L1\u2013RARA<\/jats:italic> fusion on the clinical phenotype and progression of APL are needed to identify more effective therapeutic targets for APL.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fonc.2021.688203","type":"journal-article","created":{"date-parts":[[2021,6,24]],"date-time":"2021-06-24T05:05:55Z","timestamp":1624511155000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":7,"title":["Myeloid Sarcoma Type of Acute Promyelocytic Leukemia With a Cryptic Insertion of RARA Into FIP1L1: The Clinical Utility of NGS and Bioinformatic 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