{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,26]],"date-time":"2026-04-26T17:36:41Z","timestamp":1777225001360,"version":"3.51.4"},"reference-count":13,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T00:00:00Z","timestamp":1774396800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T00:00:00Z","timestamp":1774396800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100003710","name":"Korea Health Industry Development Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003710","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["eJHaem"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Advancements in genomic profiling have significantly improved the classification and treatment strategies for acute myeloid leukemia (AML). However, widely utilized molecular diagnostic techniques, including targeted gene panels, are often insufficient for detecting complex structural variants, cryptic fusions, and poorly characterized driver mutations. Here, we present the case of a 15\u2010month\u2010old female with pediatric acute megakaryoblastic leukemia (AMKL) who exhibited an atypical clinical presentation. Initial imaging revealed expansile lesions in the pelvic bones and vertebral bodies, prompting suspicion of malignancy. Conventional diagnostics, including immunohistochemistry and targeted sequencing, failed to identify a definitive oncogenic driver. Whole genome sequencing (WGS) identified a\n                    <jats:italic>CBFA2T3::GLIS2<\/jats:italic>\n                    fusion, leading to a revised AMKL diagnosis with a RAM immunophenotype. The patient underwent induction chemotherapy with cytarabine and mitoxantrone, followed by salvage therapy with venetoclax and azacitidine, resulting in morphologic remission. Subsequent haploidentical hematopoietic stem cell transplantation achieved remission, with ongoing hematologic recovery. This case underscores the limitations of conventional molecular assays in detecting cryptic fusions and highlights the critical role of comprehensive genomic profiling in refining subclassification and optimizing therapeutic strategies in pediatric AML.\n                  <\/jats:p>","DOI":"10.1002\/jha2.70254","type":"journal-article","created":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T14:27:25Z","timestamp":1774448845000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Identification of an Elusive\n                    <i>CBFA2T3::GLIS2<\/i>\n                    Fusion Variant in Acute Megakaryoblastic Leukemia by Whole Genome Sequencing"],"prefix":"10.1002","volume":"7","author":[{"given":"Yuna","family":"Lee","sequence":"first","affiliation":[{"name":"Inocras Inc.  San Diego California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jung Yoon","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seoul National University College of Medicine Seoul National University Children's Hospital  Seoul Republic of Korea"},{"name":"Seoul National University Cancer Research Institute  Seoul Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyun Jin","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seoul National University College of Medicine Seoul National University Children's Hospital  Seoul Republic of Korea"},{"name":"Seoul National University Cancer Research Institute  Seoul Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bo Kyung","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seoul National University College of Medicine Seoul National University Children's Hospital  Seoul Republic of Korea"},{"name":"Seoul National University Cancer Research Institute  Seoul Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2401-3933","authenticated-orcid":false,"given":"Hyun Kyung","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Seoul National University Hospital Seoul National University College of Medicine  Seoul Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yeseul","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Seoul National University Hospital Seoul National University College of Medicine  Seoul Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jung\u2010Eun","family":"Cheon","sequence":"additional","affiliation":[{"name":"Department of Radiology Seoul National University Children's Hospital Seoul National University College of Medicine  Seoul Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sung\u2010Hye","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Pathology Seoul National University Hospital Seoul National University College of Medicine  Seoul Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ji Hoon","family":"Phi","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurosurgery Seoul National University Children's Hospital Seoul National University College of Medicine  Seoul Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ji Won","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Samsung Medical Center Sungkyunkwan University School of Medicine  Seoul Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryul","family":"Kim","sequence":"additional","affiliation":[{"name":"Inocras Inc.  San Diego California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2043-6624","authenticated-orcid":false,"given":"June\u2010Young","family":"Koh","sequence":"additional","affiliation":[{"name":"Inocras Inc.  San Diego California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyoung Jin","family":"Kang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seoul National University College of Medicine Seoul National University Children's Hospital  Seoul Republic of Korea"},{"name":"Seoul National University Cancer Research Institute  Seoul Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,3,25]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2764"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20102141.1976.tb03563.x"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood\u20102016\u201003\u2010643544"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1516192"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood\u20102015\u201005\u2010567859"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3772"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI157101"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijlh.14076"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood\u20102016\u201001\u2010695551"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood\u20102012\u201011\u2010469825"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0000000000002822"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.15725"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2022.282442"}],"container-title":["eJHaem"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jha2.70254","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jha2.70254","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jha2.70254","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,26]],"date-time":"2026-04-26T17:15:42Z","timestamp":1777223742000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jha2.70254"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,25]]},"references-count":13,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,4]]}},"alternative-id":["10.1002\/jha2.70254"],"URL":"https:\/\/doi.org\/10.1002\/jha2.70254","archive":["Portico"],"relation":{},"ISSN":["2688-6146","2688-6146"],"issn-type":[{"value":"2688-6146","type":"print"},{"value":"2688-6146","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,25]]},"assertion":[{"value":"2025-04-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-02-07","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-25","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70254"}}