{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T16:41:25Z","timestamp":1787503285537,"version":"build-2736575974"},"reference-count":42,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2023,4,3]],"date-time":"2023-04-03T00:00:00Z","timestamp":1680480000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Direction de la Recherche Clinique et de l\u2019Innovation, CHU Clermont-Ferrand, France"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>Cytogenetic aberrations are found in 65% of adults and 75% of children with acute leukemia. Specific aberrations are used as markers for the prognostic stratification of patients. The current standard cytogenetic procedure for acute leukemias is karyotyping in combination with FISH and RT-PCR. Optical genome mapping (OGM) is a new technology providing a precise identification of chromosomal abnormalities in a single approach. In our prospective study, the results obtained using OGM and standard techniques were compared in 29 cases of acute myeloid (AML) or lymphoblastic leukemia (ALL). OGM detected 73% (53\/73) of abnormalities identified by standard methods. In AML cases, two single clones and three subclones were missed by OGM, but the assignment of patients to cytogenetic risk groups was concordant in all patients. OGM identified additional abnormalities in six cases, including one cryptic structural variant of clinical interest and two subclones. In B-ALL cases, OGM correctly detected all relevant aberrations and revealed additional potentially targetable alterations. In T-ALL cases, OGM characterized a complex karyotype in one case and identified additional abnormalities in two others. In conclusion, OGM is an attractive alternative to current multiple cytogenetic testing in acute leukemia that simplifies the procedure and reduces costs.<\/jats:p>","DOI":"10.3390\/cancers15072131","type":"journal-article","created":{"date-parts":[[2023,4,4]],"date-time":"2023-04-04T01:35:59Z","timestamp":1680572159000},"page":"2131","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Optical Genome Mapping in Routine Cytogenetic Diagnosis of Acute Leukemia"],"prefix":"10.3390","volume":"15","author":[{"given":"Gwendoline","family":"Soler","sequence":"first","affiliation":[{"name":"Cytog\u00e9n\u00e9tique M\u00e9dicale, CHU Clermont-Ferrand, CHU Estaing, 63000 Clermont-Ferrand, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1142-8788","authenticated-orcid":false,"given":"Zangb\u00e9wend\u00e9 Guy","family":"Ouedraogo","sequence":"additional","affiliation":[{"name":"Cytog\u00e9n\u00e9tique M\u00e9dicale, CHU Clermont-Ferrand, CHU Estaing, 63000 Clermont-Ferrand, France"},{"name":"Service de Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire, CHU Clermont-Ferrand, 63000 Clermont-Ferrand, France"},{"name":"CNRS, INSERM, iGReD, Universit\u00e9 Clermont Auvergne, 63001 Clermont-Ferrand, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carole","family":"Goumy","sequence":"additional","affiliation":[{"name":"Cytog\u00e9n\u00e9tique M\u00e9dicale, CHU Clermont-Ferrand, CHU Estaing, 63000 Clermont-Ferrand, France"},{"name":"INSERM U1240 Imagerie Mol\u00e9culaire et Strat\u00e9gies Th\u00e9ranostiques, Universit\u00e9 Clermont Auvergne, 63000 Clermont-Ferrand, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4890-336X","authenticated-orcid":false,"given":"Benjamin","family":"Lebecque","sequence":"additional","affiliation":[{"name":"H\u00e9matologie Biologique, CHU Estaing, 63100 Clermont-Ferrand, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaspar","family":"Aspas Requena","sequence":"additional","affiliation":[{"name":"H\u00e9matologie Clinique Adulte et de Th\u00e9rapie Cellulaire, CHU Estaing, 63100 Clermont-Ferrand, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1228-9481","authenticated-orcid":false,"given":"Aur\u00e9lie","family":"Ravinet","sequence":"additional","affiliation":[{"name":"H\u00e9matologie Clinique Adulte et de Th\u00e9rapie Cellulaire, CHU Estaing, 63100 Clermont-Ferrand, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justyna","family":"Kanold","sequence":"additional","affiliation":[{"name":"Service d\u2019H\u00e9matologie et d\u2019Oncologie P\u00e9diatrique et Unit\u00e9 CRECHE (Centre de REcherche Clinique CHez l\u2019Enfant), CHU Estaing, 63100 Clermont-Ferrand, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4414-7974","authenticated-orcid":false,"given":"Lauren","family":"V\u00e9ron\u00e8se","sequence":"additional","affiliation":[{"name":"Cytog\u00e9n\u00e9tique M\u00e9dicale, CHU Clermont-Ferrand, CHU Estaing, 63000 Clermont-Ferrand, France"},{"name":"Clonal Heterogeneity and Leukemic Environment in Therapy Resistance of Chronic Leukemias (CHELTER), EA7453, Universit\u00e9 Clermont Auvergne, 63000 Clermont-Ferrand, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrei","family":"Tchirkov","sequence":"additional","affiliation":[{"name":"Cytog\u00e9n\u00e9tique M\u00e9dicale, CHU Clermont-Ferrand, CHU Estaing, 63000 Clermont-Ferrand, France"},{"name":"Clonal Heterogeneity and Leukemic Environment in Therapy Resistance of Chronic Leukemias (CHELTER), EA7453, Universit\u00e9 Clermont Auvergne, 63000 Clermont-Ferrand, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,4,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/S0268-960X(03)00040-7","article-title":"Cytogenetics in acute leukemia","volume":"18","author":"Heerema","year":"2004","journal-title":"Blood Rev."},{"key":"ref_2","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 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