{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T02:07:11Z","timestamp":1791338831633,"version":"4.3.1"},"reference-count":78,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T00:00:00Z","timestamp":1767744000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T00:00:00Z","timestamp":1772150400000},"content-version":"vor","delay-in-days":51,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"name":"Department of Education, Culture, Universities and Employment of the Generalitat Valenciana","award":["CIACIF\/2022\/134"],"award-info":[{"award-number":["CIACIF\/2022\/134"]}]},{"name":"Asociaci\u00f3n Valenciana de Hematolog\u00eda y Hemoterapia","award":["AVHH\/2022"],"award-info":[{"award-number":["AVHH\/2022"]}]},{"DOI":"10.13039\/501100009093","name":"Fundaci\u00f3n Espa\u00f1ola de Hematolog\u00eda y Hemoterapia","doi-asserted-by":"publisher","award":["2022-939-1_CRC_FEHH_GARCIA"],"award-info":[{"award-number":["2022-939-1_CRC_FEHH_GARCIA"]}],"id":[{"id":"10.13039\/501100009093","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Scientific Foundation of the Spanish Association Against Cancer","award":["CLJUN235179DIAZ"],"award-info":[{"award-number":["CLJUN235179DIAZ"]}]},{"DOI":"10.13039\/501100004837","name":"Ministerio de Ciencia e Innovaci\u00f3n","doi-asserted-by":"publisher","award":["PID2021-126138OB-I00"],"award-info":[{"award-number":["PID2021-126138OB-I00"]}],"id":[{"id":"10.13039\/501100004837","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004837","name":"Ministerio de Ciencia e Innovaci\u00f3n","doi-asserted-by":"publisher","award":["PID2021-126138OB-I00"],"award-info":[{"award-number":["PID2021-126138OB-I00"]}],"id":[{"id":"10.13039\/501100004837","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["CP25\/00068"],"award-info":[{"award-number":["CP25\/00068"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["npj Precis. Onc."],"DOI":"10.1038\/s41698-025-01258-0","type":"journal-article","created":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T08:36:35Z","timestamp":1767774995000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Optical genome mapping as a high-resolution tool for uncovering cytogenetic complex and cryptic alterations in a cohort of patients with MDS and AML"],"prefix":"10.1038","volume":"10","author":[{"given":"Neus","family":"Torres-Hern\u00e1ndez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elvira","family":"Mora","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristian","family":"Garc\u00eda-Ruiz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c0lvaro","family":"D\u00edaz-Gonz\u00e1lez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gayane","family":"Avetisyan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Martinez-Campuzano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandro","family":"Berenguer-Rubio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Botella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Benet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"G\u00f3mez-Catal\u00e1n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Romero-Casanova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar","family":"Tormo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Jos\u00e9","family":"Cortti-Ferrari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda","family":"Jim\u00e9nez-Esteso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Liquori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brais Lamas","family":"Rodr\u00edguez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Barragan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javier","family":"de la Rubia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9","family":"Cervera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esperanza","family":"Such","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,1,7]]},"reference":[{"key":"1258_CR1","doi-asserted-by":"publisher","first-page":"1765","DOI":"10.3324\/haematol.2020.248955","volume":"105","author":"E Hellstr\u00f6m-Lindberg","year":"2020","unstructured":"Hellstr\u00f6m-Lindberg, E., Tobiasson, M. & Greenberg, P. Myelodysplastic syndromes: moving towards personalized management. Haematologica 105, 1765\u20131779 (2020).","journal-title":"Haematologica"},{"key":"1258_CR2","doi-asserted-by":"publisher","unstructured":"Boscaro, E. et al. Modern risk stratification of acute myeloid leukemia in 2023: integrating established and emerging prognostic factors. Cancers 15, https:\/\/doi.org\/10.3390\/cancers15133512 (2023).","DOI":"10.3390\/cancers15133512"},{"key":"1258_CR3","doi-asserted-by":"crossref","unstructured":"Hasserjian, R. P., Germing, U. & Malcovati, L. Diagnosis and classification of myelodysplastic syndromes. Blood 142, 2247\u20132257 (2023).","DOI":"10.1182\/blood.2023020078"},{"key":"1258_CR4","doi-asserted-by":"publisher","first-page":"1998","DOI":"10.1002\/ijc.33942","volume":"150","author":"WM Gerding","year":"2022","unstructured":"Gerding, W. M. et al. Optical genome mapping reveals additional prognostic information compared to conventional cytogenetics in AML\/MDS patients. Int. J. Cancer 150, 1998\u20132011 (2022).","journal-title":"Int. J. Cancer"},{"key":"1258_CR5","doi-asserted-by":"publisher","first-page":"2231","DOI":"10.2147\/CMAR.S242479","volume":"12","author":"F Pourrajab","year":"2020","unstructured":"Pourrajab, F., Zare-Khormizi, M. R., Hashemi, A. S. & Hekmatimoghaddam, S. Genetic characterization and risk stratification of acute myeloid leukemia. Cancer Manag. Res. 12, 2231\u20132253 (2020).","journal-title":"Cancer Manag. Res."},{"key":"1258_CR6","doi-asserted-by":"publisher","first-page":"4021","DOI":"10.1182\/blood-2013-09-381665","volume":"122","author":"M Cazzola","year":"2013","unstructured":"Cazzola, M., Della Porta, M. G. & Malcovati, L. The genetic basis of myelodysplasia and its clinical relevance. Blood 122, 4021\u20134034 (2013).","journal-title":"Blood"},{"key":"1258_CR7","doi-asserted-by":"publisher","first-page":"1703","DOI":"10.1038\/s41375-022-01613-1","volume":"36","author":"JD Khoury","year":"2022","unstructured":"Khoury, J. D. et al. The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic\/dendritic neoplasms. Leukemia 36, 1703\u20131719 (2022).","journal-title":"Leukemia"},{"key":"1258_CR8","doi-asserted-by":"publisher","first-page":"1200","DOI":"10.1182\/blood.2022015850","volume":"140","author":"DA Arber","year":"2022","unstructured":"Arber, D. A. et al. International consensus classification of myeloid neoplasms and acute leukemias: integrating morphologic, clinical, and genomic data. Blood 140, 1200\u20131228 (2022).","journal-title":"Blood"},{"key":"1258_CR9","doi-asserted-by":"publisher","first-page":"EVIDoa2200008","DOI":"10.1056\/EVIDoa2200008","volume":"1","author":"E Bernard","year":"2022","unstructured":"Bernard, E. et al. Molecular international prognostic scoring system for myelodysplastic syndromes. NEJM Evid. 1, EVIDoa2200008 (2022).","journal-title":"NEJM Evid."},{"key":"1258_CR10","doi-asserted-by":"publisher","first-page":"1345","DOI":"10.1182\/blood.2022016867","volume":"140","author":"H D\u00f6hner","year":"2022","unstructured":"D\u00f6hner, H. et al. Diagnosis and management of AML in adults: 2022 recommendations from an international expert panel on behalf of the ELN. Blood 140, 1345\u20131377 (2022).","journal-title":"Blood"},{"key":"1258_CR11","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1182\/bloodadvances.2022007583","volume":"7","author":"B Levy","year":"2023","unstructured":"Levy, B. et al. Optical genome mapping in acute myeloid leukemia: a multicenter evaluation. Blood Adv. 7, 1297\u20131307 (2023).","journal-title":"Blood Adv."},{"key":"1258_CR12","doi-asserted-by":"publisher","first-page":"1959","DOI":"10.1002\/ajh.27435","volume":"99","author":"S Loghavi","year":"2024","unstructured":"Loghavi, S. et al. Optical genome mapping improves the accuracy of classification, risk stratification, and personalized treatment strategies for patients with acute myeloid leukemia. Am. J. Hematol. 99, 1959\u20131968 (2024).","journal-title":"Am. J. Hematol."},{"key":"1258_CR13","doi-asserted-by":"publisher","first-page":"e70024","DOI":"10.1002\/gcc.70024","volume":"64","author":"A Valkama","year":"2025","unstructured":"Valkama, A. et al. Structural variant analysis of complex karyotype myelodysplastic neoplasia through optical genome mapping. Genes Chromosomes Cancer 64, e70024 (2025).","journal-title":"Genes Chromosomes Cancer"},{"key":"1258_CR14","doi-asserted-by":"crossref","unstructured":"Totiger, T. M. et al. targeted therapy development in acute myeloid leukemia. Biomedicine 11, 641 (2023).","DOI":"10.3390\/biomedicines11020641"},{"key":"1258_CR15","doi-asserted-by":"publisher","unstructured":"Pitel, B. A. et al. Prospective evaluation of genome sequencing to compare conventional cytogenetics in acute myeloid leukemia. Blood Cancer J. 13, https:\/\/doi.org\/10.1038\/s41408-023-00908-5 (2023).","DOI":"10.1038\/s41408-023-00908-5"},{"key":"1258_CR16","doi-asserted-by":"publisher","unstructured":"Wu, R. H. et al. The landscape of novel strategies for acute myeloid leukemia treatment: therapeutic trends, challenges, and future directions. Toxicol. Appl. Pharmacol. 473, https:\/\/doi.org\/10.1016\/j.taap.2023.116585 (2023).","DOI":"10.1016\/j.taap.2023.116585"},{"key":"1258_CR17","doi-asserted-by":"publisher","first-page":"751","DOI":"10.1038\/s41375-024-02137-6","volume":"38","author":"JF Severens","year":"2024","unstructured":"Severens, J. F. et al. Mapping AML heterogeneity - multi-cohort transcriptomic analysis identifies novel clusters and divergent ex-vivo drug responses. Leukemia 38, 751\u2013761 (2024).","journal-title":"Leukemia"},{"key":"1258_CR18","doi-asserted-by":"publisher","first-page":"1436","DOI":"10.3390\/cancers17091436","volume":"17","author":"GA Toruner","year":"2025","unstructured":"Toruner, G. A. et al. Clinical utility of optical genome mapping as an additional tool in a standard cytogenetic workup in hematological malignancies. Cancers 17, 1436 (2025).","journal-title":"Cancers"},{"key":"1258_CR19","doi-asserted-by":"publisher","unstructured":"Balducci, E. et al. Optical genome mapping refines cytogenetic diagnostics, prognostic stratification and provides new molecular insights in adult MDS\/AML patients. Blood Cancer J. 12, https:\/\/doi.org\/10.1038\/s41408-022-00718-1 (2022).","DOI":"10.1038\/s41408-022-00718-1"},{"key":"1258_CR20","doi-asserted-by":"publisher","first-page":"642","DOI":"10.1002\/ajh.27175","volume":"99","author":"B Levy","year":"2024","unstructured":"Levy, B. et al. A framework for the clinical implementation of optical genome mapping in hematologic malignancies. Am. J. Hematol. 99, 642\u2013661 (2024).","journal-title":"Am. J. Hematol."},{"key":"1258_CR21","doi-asserted-by":"crossref","unstructured":"Puiggros, A. et al. Optical genome mapping: technical basis and applications in hematological malignancies. Rev. Sangre 42, 77\u201391 (2024).","DOI":"10.24875\/SANGREE.M23000013"},{"key":"1258_CR22","doi-asserted-by":"publisher","unstructured":"Wei, Q. et al. Optical genome mapping in myelodysplastic syndromes:clinical value and limitations derived from a cohort of 236 patients.Mod. Pathol. 100862 https:\/\/doi.org\/10.1016\/J.MODPAT.2025.100862 (2025).","DOI":"10.1016\/J.MODPAT.2025.100862"},{"key":"1258_CR23","doi-asserted-by":"publisher","first-page":"6051","DOI":"10.1182\/blood-2023-188581","volume":"142","author":"Y LE Bris","year":"2023","unstructured":"LE Bris, Y. et al. Optical Genome mapping combined with high-throughput sequencing is effective for the diagnostic and prognostic genomic classification of acute myeloid leukemia and myelodysplastic neoplasms. Blood 142, 6051 (2023).","journal-title":"Blood"},{"key":"1258_CR24","doi-asserted-by":"publisher","first-page":"2306","DOI":"10.1038\/s41375-022-01652-8","volume":"36","author":"H Yang","year":"2022","unstructured":"Yang, H. et al. High-resolution structural variant profiling of myelodysplastic syndromes by optical genome mapping uncovers cryptic aberrations of prognostic and therapeutic significance. Leukemia 36, 2306\u20132316 (2022).","journal-title":"Leukemia"},{"key":"1258_CR25","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/s41375-022-01763-2","volume":"37","author":"DB Vangala","year":"2023","unstructured":"Vangala, D. B., Nilius-Eliliwi, V., Gerding, W. M., Schroers, R. & Nguyen, H. P. High-resolution structural variant profiling of myelodysplastic syndromes by optical genome mapping uncovers cryptic aberrations of prognostic and therapeutic significance. Leukemia 37, 248\u2013249 (2023).","journal-title":"Leukemia"},{"key":"1258_CR26","doi-asserted-by":"publisher","first-page":"1630","DOI":"10.1038\/nm.2988","volume":"1811","author":"AJ Holland","year":"2012","unstructured":"Holland, A. J. & Cleveland, D. W. Chromoanagenesis and cancer: mechanisms and consequences of localized, complex chromosomal rearrangements. Nat. Med. 1811, 1630\u20131638 (2012).","journal-title":"Nat. Med."},{"key":"1258_CR27","doi-asserted-by":"publisher","first-page":"417","DOI":"10.1002\/ajh.27575","volume":"100","author":"Q Wei","year":"2025","unstructured":"Wei, Q. et al. Chromoanagenesis is frequently associated with highly complex karyotypes, extensive clonal heterogeneity, and treatment refractoriness in acute myeloid leukemia. Am. J. Hematol. 100, 417\u2013426 (2025).","journal-title":"Am. J. Hematol."},{"key":"1258_CR28","doi-asserted-by":"publisher","first-page":"686","DOI":"10.3390\/genes14030686","volume":"14","author":"LM Vieler","year":"2023","unstructured":"Vieler, L. M. et al. Optical genome mapping reveals and characterizes recurrent aberrations and new fusion genes in adult ALL. Genes 14, 686 (2023).","journal-title":"Genes"},{"key":"1258_CR29","doi-asserted-by":"publisher","first-page":"3376","DOI":"10.3390\/cancers14143376","volume":"14","author":"A Puiggros","year":"2022","unstructured":"Puiggros, A. et al. Optical genome mapping: a promising new tool to assess genomic complexity in chronic lymphocytic leukemia (CLL). Cancers 14, 3376 (2022).","journal-title":"Cancers"},{"key":"1258_CR30","doi-asserted-by":"publisher","first-page":"3039","DOI":"10.3390\/cancers15113039","volume":"15","author":"\u00c1 D\u00edaz-Gonz\u00e1lez","year":"2023","unstructured":"D\u00edaz-Gonz\u00e1lez, \u00c1 et al. Cytogenetic assessment and risk stratification in myelofibrosis with optical genome mapping. Cancers 15, 3039 (2023).","journal-title":"Cancers"},{"key":"1258_CR31","doi-asserted-by":"publisher","first-page":"374","DOI":"10.1016\/j.jmoldx.2024.02.003","volume":"26","author":"J Baelen","year":"2024","unstructured":"Baelen, J. et al. Optical genome mapping for comprehensive cytogenetic analysis of soft-tissue and bone tumors for diagnostic purposes. J. Mol. Diagn. 26, 374\u2013386 (2024).","journal-title":"J. Mol. Diagn."},{"key":"1258_CR32","doi-asserted-by":"publisher","first-page":"2820","DOI":"10.3390\/ijms26062820","volume":"26","author":"A Berenguer-Rubio","year":"2025","unstructured":"Berenguer-Rubio, A. et al. Exploring the potential of optical genome mapping in the diagnosis and prognosis of soft tissue and bone tumors. Int. J. Mol. Sci. 26, 2820 (2025).","journal-title":"Int. J. Mol. Sci."},{"key":"1258_CR33","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1002\/path.6085","volume":"260","author":"M Bornhorst","year":"2023","unstructured":"Bornhorst, M. et al. Optical genome mapping identifies a novel pediatric embryonal tumor with a ZNF532::NUTM1 fusion. J. Pathol. 260, 329\u2013338 (2023).","journal-title":"J. Pathol."},{"key":"1258_CR34","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3390\/jpm11020142","volume":"11","author":"DY Goldrich","year":"2021","unstructured":"Goldrich, D. Y. et al. Identification of somatic structural variants in solid tumors by optical genome mapping. J. Pers. Med. 11, 1\u201321 (2021).","journal-title":"J. Pers. Med."},{"key":"1258_CR35","doi-asserted-by":"publisher","first-page":"100684","DOI":"10.1016\/j.modpat.2024.100684","volume":"38","author":"J Ghabrial","year":"2025","unstructured":"Ghabrial, J. et al. Diagnostic and prognostic\/therapeutic significance of comprehensive analysis of bone and soft tissue tumors using optical genome mapping and next-generation sequencing. Mod. Pathol. 38, 100684 (2025).","journal-title":"Mod. Pathol."},{"key":"1258_CR36","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s12935-022-02728-2","volume":"22","author":"Y Shim","year":"2022","unstructured":"Shim, Y. et al. Optical genome mapping identifies clinically relevant genomic rearrangements in prostate cancer biopsy sample. Cancer Cell Int. 22, 1\u20138 (2022).","journal-title":"Cancer Cell Int."},{"key":"1258_CR37","doi-asserted-by":"publisher","first-page":"1","DOI":"10.31083\/j.fbl2901002","volume":"29","author":"Y Cheng","year":"2024","unstructured":"Cheng, Y. et al. Optical genome mapping reveals the landscape of structural variations and their clinical significance in HBOC-related breast cancer. Front. Biosci. Landmark 29, 1\u201315 (2024).","journal-title":"Front. Biosci. Landmark"},{"key":"1258_CR38","doi-asserted-by":"crossref","unstructured":"Nilius-Eliliwi, V., Gerding, W. M., Schroers, R., Nguyen, H. P. & Vangala, D. B. Optical genome mapping for cytogenetic diagnostics in AML. Cancers 15, 1684 (2023).","DOI":"10.3390\/cancers15061684"},{"key":"1258_CR39","doi-asserted-by":"crossref","unstructured":"Tembrink, M. et al. Novel NUP98::ASH1L gene fusion in acute myeloid leukemia detected by optical genome mapping. Cancers 15, 2942 (2023).","DOI":"10.3390\/cancers15112942"},{"key":"1258_CR40","doi-asserted-by":"publisher","first-page":"375","DOI":"10.1002\/gcc.22341","volume":"55","author":"C Baldazzi","year":"2016","unstructured":"Baldazzi, C. et al. Complex chromosomal rearrangements leading to MECOM overexpression are recurrent in myeloid malignancies with various 3q abnormalities. Genes Chromosomes Cancer 55, 375\u2013388 (2016).","journal-title":"Genes Chromosomes Cancer"},{"key":"1258_CR41","unstructured":"Biology, M. A. et al. Oncogene EVI1 drives acute myeloid leukemia via a targetable interaction with CTBP2. Sci. Adv. 10, https:\/\/www.science.org(2024)."},{"key":"1258_CR42","doi-asserted-by":"publisher","first-page":"996","DOI":"10.1080\/10428194.2017.1352093","volume":"59","author":"N Coccaro","year":"2018","unstructured":"Coccaro, N. et al. A novel t(3;9)(q21.2; p24.3) associated with SMARCA2 and ZNF148 genes rearrangement in myelodysplastic syndrome. Leuk. Lymphoma 59, 996\u2013999 (2018).","journal-title":"Leuk. Lymphoma"},{"key":"1258_CR43","doi-asserted-by":"publisher","first-page":"458","DOI":"10.3390\/cancers15020458","volume":"15","author":"Z Tang","year":"2023","unstructured":"Tang, Z. et al. 3q26.2\/MECOM rearrangements by pericentric Inv(3): diagnostic challenges and clinicopathologic features. Cancers 15, 458 (2023).","journal-title":"Cancers"},{"key":"1258_CR44","doi-asserted-by":"publisher","first-page":"180","DOI":"10.1080\/10408363.2020.1844135","volume":"58","author":"N Lomov","year":"2021","unstructured":"Lomov, N., Zerkalenkova, E., Lebedeva, S., Viushkov, V. & Rubtsov, M. A. Cytogenetic and molecular genetic methods for chromosomal translocations detection with reference to the KMT2A\/MLL gene. Crit. Rev. Clin. Lab. Sci. 58, 180\u2013206 (2021).","journal-title":"Crit. Rev. Clin. Lab. Sci."},{"key":"1258_CR45","doi-asserted-by":"crossref","unstructured":"Wei, Q. et al. Detection of KMT2A partial tandem duplication by optical genome mapping in myeloid neoplasms: associated cytogenetics, gene mutations, treatment responses, and patient outcomes. Cancers 16, 4193 (2024).","DOI":"10.3390\/cancers16244193"},{"key":"1258_CR46","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1016\/j.cancergen.2019.10.006","volume":"240","author":"C Vetro","year":"2020","unstructured":"Vetro, C. et al. Cytogenetic and molecular genetic characterization of KMT2A-PTD positive acute myeloid leukemia in comparison to KMT2A-Rearranged acute myeloid leukemia. Cancer Genet. 240, 15\u201322 (2020).","journal-title":"Cancer Genet."},{"key":"1258_CR47","doi-asserted-by":"publisher","first-page":"77","DOI":"10.2217\/fon.10.158","volume":"7","author":"E De Braekeleer","year":"2011","unstructured":"De Braekeleer, E. et al. RUNX1 translocations and fusion genes in malignant hemopathies. Futur. Oncol. 7, 77\u201391 (2011).","journal-title":"Futur. Oncol."},{"key":"1258_CR48","doi-asserted-by":"publisher","unstructured":"Wu, Z. Maintenance and expansion of hematopoietic stem cellsin vitro using genetic methods. https:\/\/doi.org\/10.32657\/10356\/47581 (2011).","DOI":"10.32657\/10356\/47581"},{"key":"1258_CR49","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1016\/j.bcmd.2017.10.001","volume":"69","author":"BB Ganguly","year":"2018","unstructured":"Ganguly, B. B., Banerjee, D. & Agarwal, M. B. Impact of chromosome alterations, genetic mutations and clonal hematopoiesis of indeterminate potential (CHIP) on the classification and risk stratification of MDS. Blood Cells Mol. Dis. 69, 90\u2013100 (2018).","journal-title":"Blood Cells Mol. Dis."},{"key":"1258_CR50","doi-asserted-by":"publisher","first-page":"1176","DOI":"10.1002\/ajh.26941","volume":"98","author":"NG Daver","year":"2023","unstructured":"Daver, N. G. et al. Clinical characteristics and overall survival among acute myeloid leukemia patients with TP53 gene mutation or chromosome 17p deletion. Am. J. Hematol. 98, 1176\u20131184 (2023).","journal-title":"Am. J. Hematol."},{"key":"1258_CR51","doi-asserted-by":"publisher","first-page":"1103","DOI":"10.1007\/s00277-024-05680-5","volume":"103","author":"SD R\u00f8rvik","year":"2024","unstructured":"R\u00f8rvik, S. D., Torkildsen, S., Bruserud, \u00d8 & Tvedt, T. H. A. Acute myeloid leukemia with rare recurring translocations\u2014an overview of the entities included in the international consensus classification. Ann. Hematol. 103, 1103\u20131119 (2024).","journal-title":"Ann. Hematol."},{"key":"1258_CR52","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2014.110437","volume":"99","author":"FEM In\u2019t Hout","year":"2014","unstructured":"In\u2019t Hout, F. E. M., van der Reijden, B. A., Monteferrario, D., Jansen, J. H. & Huls, G. High expression of transcription factor 4 (TCF4) is an independent adverse prognostic factor in acute myeloid leukemia that could guide treatment decisions. Haematologica 99, e257 (2014).","journal-title":"Haematologica"},{"key":"1258_CR53","doi-asserted-by":"publisher","first-page":"3448","DOI":"10.1182\/blood-2022-169834","volume":"140","author":"J Tatarian","year":"2022","unstructured":"Tatarian, J. et al. Prognosis of NF1 mutations in acute myeloid leukemia. Blood 140, 3448\u20133449 (2022).","journal-title":"Blood"},{"key":"1258_CR54","doi-asserted-by":"publisher","first-page":"91","DOI":"10.5387\/fms.58.91","volume":"58","author":"K Ikeda","year":"2012","unstructured":"Ikeda, K., Ogawa, K. & Takeishi, Y. The role of HMGA2 in the proliferation and expansion of a hematopoietic cell in myeloproliferative neoplasms. Fukushima J. Med. Sci. 58, 91\u2013100 (2012).","journal-title":"Fukushima J. Med. Sci."},{"key":"1258_CR55","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1016\/j.exphem.2023.09.007","volume":"128","author":"Y Xie","year":"2023","unstructured":"Xie, Y., Tan, L., Wu, K., Li, D. & Li, C. MiR-455-3p mediates PPAR\u03b1 through UBN2 to promote apoptosis and autophagy in acute myeloid leukemia cells. Exp. Hematol. 128, 77\u201388 (2023).","journal-title":"Exp. Hematol."},{"key":"1258_CR56","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1016\/j.stem.2017.01.009","volume":"20","author":"AG Kotini","year":"2017","unstructured":"Kotini, A. G. et al. Stage-specific human induced pluripotent stem cells map the progression of myeloid transformation to transplantable leukemia. Cell Stem Cell 20, 315\u2013328.e7 (2017).","journal-title":"Cell Stem Cell"},{"key":"1258_CR57","doi-asserted-by":"publisher","unstructured":"Hou, H. A. & Tien, H. F. Genomic landscape in acute myeloid leukemia and its implications in risk classification and targeted therapies. J. Biomed. Sci. 27, https:\/\/doi.org\/10.1186\/s12929-020-00674-7 (2020).","DOI":"10.1186\/s12929-020-00674-7"},{"key":"1258_CR58","doi-asserted-by":"publisher","first-page":"1029","DOI":"10.1002\/ajh.27688","volume":"100","author":"R Kanagal-Shamanna","year":"2025","unstructured":"Kanagal-Shamanna, R. et al. Integration of optical genome mapping in the cytogenomic and molecular work-up of hematological malignancies: expert recommendations from the international consortium for optical genome mapping. Am. J. Hematol. 100, 1029\u20131048 (2025).","journal-title":"Am. J. Hematol."},{"key":"1258_CR59","doi-asserted-by":"publisher","first-page":"860","DOI":"10.1002\/ajh.27625","volume":"100","author":"S Shimony","year":"2025","unstructured":"Shimony, S., Stahl, M. & Stone, R. M. Acute myeloid leukemia: 2025 update on diagnosis, risk-stratification, and management. Am. J. Hematol. 100, 860\u2013891 (2025).","journal-title":"Am. J. Hematol."},{"key":"1258_CR60","doi-asserted-by":"publisher","first-page":"306","DOI":"10.1016\/j.jmoldx.2025.01.003","volume":"27","author":"H Guermouche","year":"2025","unstructured":"Guermouche, H. et al. Deciphering genomic complexity of multiple myeloma using optimized optical genome mapping. J. Mol. Diagn. 27, 306\u2013322 (2025).","journal-title":"J. Mol. Diagn."},{"key":"1258_CR61","doi-asserted-by":"crossref","unstructured":"Coccaro, N. et al. Feasibility of optical genome mapping in cytogenetic diagnostics of hematological neoplasms: a new way to look at DNA. Diagnostics 13, 1841 (2023).","DOI":"10.3390\/diagnostics13111841"},{"key":"1258_CR62","doi-asserted-by":"publisher","first-page":"104172","DOI":"10.1016\/j.exphem.2024.104172","volume":"132","author":"FA Lagunas-Rangel","year":"2024","unstructured":"Lagunas-Rangel, F. A. Chromothripsis in hematologic malignancies. Exp. Hematol. 132, 104172 (2024).","journal-title":"Exp. Hematol."},{"key":"1258_CR63","doi-asserted-by":"publisher","first-page":"1842","DOI":"10.1016\/j.cell.2019.05.013","volume":"177","author":"JJK Lee","year":"2019","unstructured":"Lee, J. J. K. et al. Tracing oncogene rearrangements in the mutational history of lung adenocarcinoma. Cell 177, 1842\u20131857.e21 (2019).","journal-title":"Cell"},{"key":"1258_CR64","first-page":"1","volume":"131","author":"F Pellestor","year":"2020","unstructured":"Pellestor, F. & Gatinois, V. Chromoanagenesis: a piece of the macroevolution scenario. Mol. Cytogenet. 131, 1\u20139 (2020).","journal-title":"Mol. Cytogenet."},{"key":"1258_CR65","doi-asserted-by":"crossref","unstructured":"Ejaz, U. et al. Chromothripsis: an emerging crossroad from aberrant mitosis to therapeutic opportunities. J. Mol. Cell Biol. 16, mjae016 (2024).","DOI":"10.1093\/jmcb\/mjae016"},{"key":"1258_CR66","first-page":"79","volume":"252","author":"M Simovic-Lorenz","year":"2024","unstructured":"Simovic-Lorenz, M. & Ernst, A. Chromothripsis in cancer. Nat. Rev. Cancer 2024 252, 79\u201392 (2024).","journal-title":"Nat. Rev. Cancer 2024"},{"key":"1258_CR67","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/s41467-020-16134-7","volume":"11","author":"N Voronina","year":"2020","unstructured":"Voronina, N. et al. The landscape of chromothripsis across adult cancer types. Nat. Commun. 11, 1\u201313 (2020).","journal-title":"Nat. Commun."},{"key":"1258_CR68","doi-asserted-by":"publisher","first-page":"216767","DOI":"10.1016\/j.canlet.2024.216767","volume":"588","author":"Y Zhao","year":"2024","unstructured":"Zhao, Y. et al. TP53 in MDS and AML: biological and clinical advances. Cancer Lett. 588, 216767 (2024).","journal-title":"Cancer Lett."},{"key":"1258_CR69","doi-asserted-by":"publisher","first-page":"988","DOI":"10.1038\/s41375-023-01877-1","volume":"37","author":"C Meyer","year":"2023","unstructured":"Meyer, C. et al. The KMT2A recombinome of acute leukemias in 2023. Leukemia 37, 988\u20131005 (2023).","journal-title":"Leukemia"},{"key":"1258_CR70","doi-asserted-by":"publisher","first-page":"5763","DOI":"10.3390\/ijms26125763","volume":"26","author":"L Ballesta-Alcaraz","year":"2025","unstructured":"Ballesta-Alcaraz, L. et al. Application of optical genome mapping for the diagnosis and risk stratification of myeloid and lymphoid malignancies. Int. J. Mol. Sci. 26, 5763 (2025).","journal-title":"Int. J. Mol. Sci."},{"key":"1258_CR71","doi-asserted-by":"publisher","first-page":"3715","DOI":"10.3390\/cancers14153715","volume":"14","author":"S Ramos-Campoy","year":"2022","unstructured":"Ramos-Campoy, S. et al. TP53 abnormalities are underlying the poor outcome associated with chromothripsis in chronic lymphocytic leukemia patients with complex karyotype. Cancers 14, 3715 (2022).","journal-title":"Cancers"},{"key":"1258_CR72","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1038\/leu.2008.173","volume":"231","author":"D Bowen","year":"2009","unstructured":"Bowen, D. et al. TP53 gene mutation is frequent in patients with acute myeloid leukemia and complex karyotype, and is associated with very poor prognosis. Leukemia 231, 203\u2013206 (2009).","journal-title":"Leukemia"},{"key":"1258_CR73","doi-asserted-by":"publisher","first-page":"1549","DOI":"10.1038\/s41591-020-1008-z","volume":"26","author":"E Bernard","year":"2020","unstructured":"Bernard, E. et al. Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes. Nat. Med. 26, 1549\u20131556 (2020).","journal-title":"Nat. Med."},{"key":"1258_CR74","first-page":"3533","volume":"109","author":"T Badar","year":"2024","unstructured":"Badar, T. et al. Prognostic impact of \u2018multi-hit\u2019 versus \u2018single-hit\u2019 TP53 alteration in patients with acute myeloid leukemia: results from the Consortium on Myeloid Malignancies and Neoplastic Diseases. Haematologica 109, 3533\u20133542 (2024).","journal-title":"Haematologica"},{"key":"1258_CR75","doi-asserted-by":"publisher","first-page":"2114","DOI":"10.1182\/blood-2011-08-375758","volume":"119","author":"FG R\u00fccker","year":"2012","unstructured":"R\u00fccker, F. G. et al. TP53 alterations in acute myeloid leukemia with complex karyotype correlate with specific copy number alterations, monosomal karyotype, and dismal outcome. Blood 119, 2114\u20132121 (2012).","journal-title":"Blood"},{"key":"1258_CR76","doi-asserted-by":"crossref","unstructured":"Halik, A. et al. Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients. J. Hematol. Oncol. 17, 70 (2024).","DOI":"10.1186\/s13045-024-01590-1"},{"key":"1258_CR77","doi-asserted-by":"crossref","unstructured":"ISCN 2024 \u2013 An International System for Human Cytogenomic Nomenclature (2024). Cytogenet. Genome Res. 164, 1\u2013224 (2024).","DOI":"10.1159\/000538512"},{"key":"1258_CR78","unstructured":"Bionano Genomics. Analysis Quick Start: Annotated Rare Variant Calling. (2024)."}],"container-title":["npj Precision Oncology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41698-025-01258-0","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41698-025-01258-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41698-025-01258-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T15:04:22Z","timestamp":1772204662000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41698-025-01258-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,7]]},"references-count":78,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["1258"],"URL":"https:\/\/doi.org\/10.1038\/s41698-025-01258-0","relation":{},"ISSN":["2397-768X"],"issn-type":[{"value":"2397-768X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,7]]},"assertion":[{"value":"14 September 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 December 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 January 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"85"}}