{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T09:47:17Z","timestamp":1776073637013,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T00:00:00Z","timestamp":1776038400000},"content-version":"vor","delay-in-days":102,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Hematology"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    Double minutes (dmins), a form of extrachromosomal DNA (ecDNA), represent a rare cytogenomic event in myeloid neoplasms and are most commonly associated with amplification of oncogenes such as\n                    <jats:italic>MYC<\/jats:italic>\n                    or\n                    <jats:italic>KMT2A<\/jats:italic>\n                    . Dmins derived from the 11q24 region that exclude\n                    <jats:italic>KMT2A<\/jats:italic>\n                    are exceedingly uncommon, and their pathogenic significance remains poorly understood. We report a 74\u2010year\u2010old female initially diagnosed with myelodysplastic syndrome (MDS) with isolated del(5) (q13q33) and mutations in\n                    <jats:italic>TP53<\/jats:italic>\n                    and\n                    <jats:italic>SF3B1<\/jats:italic>\n                    . After eight years and treatment with lenalidomide with excellent clinical response, she developed progressive cytopenias and transformation to acute myeloid leukemia, myelodysplasia\u2010related (AML\u2010MR). Cytogenomic analysis at the time of leukemic transformation revealed del(5) (q13q33) in all 20 metaphase cells analyzed and loss of the\n                    <jats:italic>EGR1<\/jats:italic>\n                    (5q31.2) gene in 94% of interphase nuclei by fluorescence in situ hybridization (FISH). Notably, 18 of 20 metaphase cells also harbored dmins, ranging from 2 to 22 copies per cell. Array\u2010based comparative genomic hybridization and single nucleotide polymorphism array (array\u2010CGH\u2009+\u2009SNP) identified a 5.57\u2009Mb amplification of chromosome 11q24.2\u2013q25 encompassing at least 40 genes, including\n                    <jats:italic>FLI1<\/jats:italic>\n                    and\n                    <jats:italic>ETS1<\/jats:italic>\n                    but excluding\n                    <jats:italic>KMT2A<\/jats:italic>\n                    . Metaphase FISH confirmed localization of the amplified 11q24 segment within the dmins, and immunohistochemistry demonstrated nuclear FLI1 expression in myeloblasts. The patient was treated with combination azacitidine and venetoclax and an investigational immunotherapy within a clinical trial. This case represents the third reported instance of dmins derived from the 11q24 region involving\n                    <jats:italic>FLI1<\/jats:italic>\n                    and\n                    <jats:italic>ETS1<\/jats:italic>\n                    and the first identified in the context of AML evolved from del(5q) MDS. Dmins in myeloid neoplasms have been linked to genomic instability, clonal evolution, and therapeutic resistance. Amplification and expression of\n                    <jats:italic>FLI1<\/jats:italic>\n                    in blasts, a hematopoietic transcription factor implicated in leukemogenesis and poor prognosis in AML, suggest a potential pathogenic role for 11q24\u2010derived dmins in disease progression. Our findings expand the spectrum of dmin\u2010associated oncogenic amplifications in myeloid neoplasms and highlight\n                    <jats:italic>FLI1<\/jats:italic>\n                    and\n                    <jats:italic>ETS1<\/jats:italic>\n                    as recurrent targets of 11q24\u2010derived ecDNA amplification. Recognition of such rare events underscores the importance of integrative cytogenomic profiling for uncovering novel mechanisms of leukemic transformation and potential therapeutic targets.\n                  <\/jats:p>","DOI":"10.1155\/crh\/2250750","type":"journal-article","created":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T08:49:08Z","timestamp":1776070148000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Acute Myeloid Leukemia, Myelodysplasia\u2010Related (AML\u2010MR), With del(5q) and Double Minutes Containing Chromosomal Segment 11q24 Leading to Amplification and Expression of FLI1"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8456-9469","authenticated-orcid":false,"given":"Satomi","family":"Hiya","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3033-1081","authenticated-orcid":false,"given":"Joseph","family":"Tripodi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8400-0483","authenticated-orcid":false,"given":"John","family":"Mascarenhas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3512-4946","authenticated-orcid":false,"given":"Alina Dulau","family":"Florea","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0054-7722","authenticated-orcid":false,"given":"Vesna","family":"Najfeld","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,4,13]]},"reference":[{"key":"e_1_2_8_1_2","doi-asserted-by":"publisher","DOI":"10.3109\/07853890.2015.1009156"},{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergen.2016.05.072"},{"key":"e_1_2_8_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41594-022-00806-7"},{"key":"e_1_2_8_4_2","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2023.1194405"},{"key":"e_1_2_8_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.2.5317.1431"},{"key":"e_1_2_8_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2022.02.007"},{"key":"e_1_2_8_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00412-022-00773-4"},{"key":"e_1_2_8_8_2","doi-asserted-by":"publisher","DOI":"10.1159\/000218135"},{"key":"e_1_2_8_9_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13045-020-00960-9"},{"key":"e_1_2_8_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-022-01177-x"},{"key":"e_1_2_8_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.annonc.2020.03.303"},{"key":"e_1_2_8_12_2","doi-asserted-by":"publisher","DOI":"10.1080\/10428194.2021.1919663"},{"key":"e_1_2_8_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41408-025-01244-6"},{"key":"e_1_2_8_14_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0012855"},{"key":"e_1_2_8_15_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2019004551"},{"key":"e_1_2_8_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/s0165-4608(99)00018-7"},{"key":"e_1_2_8_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.10038"},{"key":"e_1_2_8_18_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-04-348052"},{"key":"e_1_2_8_19_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-031-62731-6_16"},{"key":"e_1_2_8_20_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.cdd.4401811"}],"container-title":["Case Reports in Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crh\/2250750","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/crh\/2250750","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crh\/2250750","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T08:49:10Z","timestamp":1776070150000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crh\/2250750"}},"subtitle":[],"editor":[{"given":"Yoshito","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1155\/crh\/2250750"],"URL":"https:\/\/doi.org\/10.1155\/crh\/2250750","archive":["Portico"],"relation":{},"ISSN":["2090-6560","2090-6579"],"issn-type":[{"value":"2090-6560","type":"print"},{"value":"2090-6579","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"2026-02-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-19","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-04-13","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"2250750"}}