{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T20:38:43Z","timestamp":1780519123738,"version":"3.54.1"},"reference-count":55,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2025,6,16]],"date-time":"2025-06-16T00:00:00Z","timestamp":1750032000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Andalusian Government","award":["B-CTS-410\u2013UGR-20 and Group CTS-143"],"award-info":[{"award-number":["B-CTS-410\u2013UGR-20 and Group CTS-143"]}]},{"name":"Red de Inmunoterapia del C\u00e1ncer","award":["B-CTS-410\u2013UGR-20 and Group CTS-143"],"award-info":[{"award-number":["B-CTS-410\u2013UGR-20 and Group CTS-143"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Optical genome mapping (OGM) is a novel, high-resolution technology for genome-wide detection of structural variants, offering clear advantages over conventional cytogenetics in hematologic malignancies. We applied OGM to a large cohort of patients with acute myeloid leukemia (AML), myelodysplastic syndromes (MDSs), and B-cell acute lymphoblastic leukemia (B-ALL) to evaluate its clinical utility. In AML and MDS, it revealed high-risk alterations such as deletions in 5q31\u20135q32 and 7q22, and cryptic fusions like NUP98::NSD1 that were missed by karyotyping or FISH. It also identified chromoanagenesis, a catastrophic chromosomal event linked to poor prognosis and often undetectable by standard methods. In B-ALL, OGM uncovered clinically relevant deletions in CDKN2A\/B, PAX5, and IKZF1, as well as high-risk ploidy changes like hypodiploidy and hyperdiploidy, all important for risk assessment and frequently underdetected. OGM not only refines diagnosis and improves risk stratification but can also uncover cryptic and complex genomic abnormalities. Our findings support its integration into routine diagnostics to enhance classification, guide treatment decisions, and improve patient outcomes.<\/jats:p>","DOI":"10.3390\/ijms26125763","type":"journal-article","created":{"date-parts":[[2025,6,16]],"date-time":"2025-06-16T10:47:22Z","timestamp":1750070842000},"page":"5763","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Application of Optical Genome Mapping for the Diagnosis and Risk Stratification of Myeloid and Lymphoid Malignancies"],"prefix":"10.3390","volume":"26","author":[{"given":"Luc\u00eda","family":"Ballesta-Alcaraz","sequence":"first","affiliation":[{"name":"Servicio de An\u00e1lisis Cl\u00ednicos e Inmunolog\u00eda, University Hospital Virgen de las Nieves, 18014 Granada, Spain"},{"name":"Programa de Doctorado en Biomedicina, University of Granada, 18016 Granada, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00f3nica","family":"Bernal","sequence":"additional","affiliation":[{"name":"Servicio de An\u00e1lisis Cl\u00ednicos e Inmunolog\u00eda, University Hospital Virgen de las Nieves, 18014 Granada, Spain"},{"name":"Instituto de Investigaci\u00f3n Biosanitaria de Granada (ibs.GRANADA), 18012 Granada, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose Ram\u00f3n","family":"Vilchez","sequence":"additional","affiliation":[{"name":"Servicio de An\u00e1lisis Cl\u00ednicos e Inmunolog\u00eda, University Hospital Virgen de las Nieves, 18014 Granada, Spain"},{"name":"Instituto de Investigaci\u00f3n Biosanitaria de Granada (ibs.GRANADA), 18012 Granada, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge Antonio","family":"Palacios","sequence":"additional","affiliation":[{"name":"Instituto de Investigaci\u00f3n Biosanitaria de Granada (ibs.GRANADA), 18012 Granada, Spain"},{"name":"Servicio de Hematolog\u00eda, University Hospital Virgen de las Nieves, 18014 Granada, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pilar","family":"Jim\u00e9nez","sequence":"additional","affiliation":[{"name":"Servicio de An\u00e1lisis Cl\u00ednicos e Inmunolog\u00eda, University Hospital Virgen de las Nieves, 18014 Granada, Spain"},{"name":"Instituto de Investigaci\u00f3n Biosanitaria de Granada (ibs.GRANADA), 18012 Granada, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pilar","family":"Garrido","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda, University Hospital Virgen de las Nieves, 18014 Granada, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1374-0756","authenticated-orcid":false,"given":"Juan Francisco","family":"Guti\u00e9rrez-Bautista","sequence":"additional","affiliation":[{"name":"Servicio de An\u00e1lisis Cl\u00ednicos e Inmunolog\u00eda, University Hospital Virgen de las Nieves, 18014 Granada, Spain"},{"name":"Instituto de Investigaci\u00f3n Biosanitaria de Granada (ibs.GRANADA), 18012 Granada, Spain"},{"name":"Departamento de Bioqu\u00edmica, Biolog\u00eda Molecular e Inmunolog\u00eda III, University of Granada, 18016 Granada, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2247-3293","authenticated-orcid":false,"given":"Francisco","family":"Ruiz-Cabello","sequence":"additional","affiliation":[{"name":"Servicio de An\u00e1lisis Cl\u00ednicos e Inmunolog\u00eda, University Hospital Virgen de las Nieves, 18014 Granada, Spain"},{"name":"Instituto de Investigaci\u00f3n Biosanitaria de Granada (ibs.GRANADA), 18012 Granada, Spain"},{"name":"Departamento de Bioqu\u00edmica, Biolog\u00eda Molecular e Inmunolog\u00eda III, University of Granada, 18016 Granada, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,6,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1720","DOI":"10.1038\/s41375-022-01620-2","article-title":"The 5th Edition of the World Health Organization Classification of Haematolymphoid Tumours: Lymphoid Neoplasms","volume":"36","author":"Alaggio","year":"2022","journal-title":"Leukemia"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1703","DOI":"10.1038\/s41375-022-01613-1","article-title":"The 5th Edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic\/Dendritic Neoplasms","volume":"36","author":"Khoury","year":"2022","journal-title":"Leukemia"},{"key":"ref_3","first-page":"1200","article-title":"International Consensus Classification of Myeloid Neoplasms and Acute Leukemias: Integrating Morphologic, Clinical, and Genomic Data","volume":"140","author":"Arber","year":"2022","journal-title":"Blood J. 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