{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T19:48:18Z","timestamp":1783453698955,"version":"3.55.0"},"reference-count":49,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T00:00:00Z","timestamp":1778716800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T00:00:00Z","timestamp":1778716800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100006306","name":"Sigrid Jus\u00e9liuksen S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","award":["220111"],"award-info":[{"award-number":["220111"]}],"id":[{"id":"10.13039\/501100006306","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"publisher","award":["360442"],"award-info":[{"award-number":["360442"]}],"id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Intl Journal of Cancer"],"published-print":{"date-parts":[[2026,9,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Approximately half of newly diagnosed acute myeloid leukemia (AML) cases are cytogenetically normal (CN) when analyzed with conventional karyotyping. However, CN\u2010AML exhibits a wide range of clinical heterogeneity, which may partly be explained by structural variants (SVs) that are not detected with current standard cytogenetic techniques. Here, 48 CN\u2010AML cases were analyzed using optical genome mapping (OGM) for comprehensive SV assessment and to identify novel candidate gene alterations. Abnormalities were detected in 22 of 48 cases (46%). Large SVs, or those affecting leukemia\u2010associated genes, were identified in 16 cases (33%), encompassing 18 abnormalities. Copy\u2010neutral loss\u2010of\u2010heterozygosity regions were detected in seven cases (15%), and they were mutually exclusive with the presence of SVs in all but one case. SVs included eight deletions, six partial tandem duplications, two balanced translocations, and two complex rearrangements. The most frequently altered genes were\n                    <jats:italic>KMT2A<\/jats:italic>\n                    (5 cases) and\n                    <jats:italic>RUNX1<\/jats:italic>\n                    (3 cases), followed by deletions of\n                    <jats:italic>NF1<\/jats:italic>\n                    and the 13q14 (\n                    <jats:italic>DLEU<\/jats:italic>\n                    ) region (2 cases each). Single alterations included\n                    <jats:italic>NUP98::NSD1<\/jats:italic>\n                    and deletions of\n                    <jats:italic>TET2<\/jats:italic>\n                    ,\n                    <jats:italic>PRPF8<\/jats:italic>\n                    , and\n                    <jats:italic>FLT3<\/jats:italic>\n                    . In addition, as a novel finding, we identified a balanced translocation t(3;20)(p13;q13.12) leading to a putative\n                    <jats:italic>FOXP1::EYA2<\/jats:italic>\n                    fusion. Notably, the presence of OGM\u2010detected abnormalities was associated with worse disease\u2010specific survival (Mantel\u2013Cox test,\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.007). Overall, this study demonstrates that a significant proportion of CN\u2010AML cases harbor clinically relevant SVs, especially those associated with adverse prognosis, that escape detection by standard techniques. Our results support the use of OGM as a streamlined, genome\u2010wide tool for both research and diagnostic applications in AML.\n                  <\/jats:p>","DOI":"10.1002\/ijc.70548","type":"journal-article","created":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T12:28:36Z","timestamp":1778761716000},"page":"1218-1227","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Optical Genome Mapping Reveals Frequent Cryptic Structural Aberrations in Normal Karyotype Acute Myeloid Leukemia"],"prefix":"10.1002","volume":"159","author":[{"given":"Tuuni","family":"Turtinen","sequence":"first","affiliation":[{"name":"Laboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit, Medical Research Center Oulu and Biocenter Oulu University of Oulu  Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andriana","family":"Valkama","sequence":"additional","affiliation":[{"name":"Laboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit, Medical Research Center Oulu and Biocenter Oulu University of Oulu  Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Wray","sequence":"additional","affiliation":[{"name":"Laboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit, Medical Research Center Oulu and Biocenter Oulu University of Oulu  Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Vorimo","sequence":"additional","affiliation":[{"name":"Laboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit, Medical Research Center Oulu and Biocenter Oulu University of Oulu  Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannele","family":"R\u00e4s\u00e4nen","sequence":"additional","affiliation":[{"name":"Northern Finland Laboratory Centre Nordlab  Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eeva\u2010Riitta","family":"Savolainen","sequence":"additional","affiliation":[{"name":"Northern Finland Laboratory Centre Nordlab  Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2449-0521","authenticated-orcid":false,"given":"Katri","family":"Pylk\u00e4s","sequence":"additional","affiliation":[{"name":"Laboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit, Medical Research Center Oulu and Biocenter Oulu University of Oulu  Oulu Finland"},{"name":"Northern Finland Laboratory Centre Nordlab  Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3284-4403","authenticated-orcid":false,"given":"Tuomo","family":"Mantere","sequence":"additional","affiliation":[{"name":"Laboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit, Medical Research Center Oulu and Biocenter Oulu University of Oulu  Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,5,14]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1406184"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41408-024-01033-7"},{"key":"e_1_2_12_4_1","unstructured":"\u201cAcute Myeloid Leukemia\u2014Cancer Stat Facts \u201daccessed October 2025 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