{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T19:39:03Z","timestamp":1780083543293,"version":"3.54.0"},"reference-count":43,"publisher":"MDPI AG","issue":"14","license":[{"start":{"date-parts":[[2022,7,11]],"date-time":"2022-07-11T00:00:00Z","timestamp":1657497600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002809","name":"Generalitat de Catalunya","doi-asserted-by":"publisher","award":["17SGR437"],"award-info":[{"award-number":["17SGR437"]}],"id":[{"id":"10.13039\/501100002809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002809","name":"Generalitat de Catalunya","doi-asserted-by":"publisher","award":["GLD17\/00282"],"award-info":[{"award-number":["GLD17\/00282"]}],"id":[{"id":"10.13039\/501100002809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002809","name":"Generalitat de Catalunya","doi-asserted-by":"publisher","award":["FPU17\/00361"],"award-info":[{"award-number":["FPU17\/00361"]}],"id":[{"id":"10.13039\/501100002809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002809","name":"Generalitat de Catalunya","doi-asserted-by":"publisher","award":["ACIF\/2021\/169"],"award-info":[{"award-number":["ACIF\/2021\/169"]}],"id":[{"id":"10.13039\/501100002809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Gilead Sciences Fellowship","award":["17SGR437"],"award-info":[{"award-number":["17SGR437"]}]},{"name":"Gilead Sciences Fellowship","award":["GLD17\/00282"],"award-info":[{"award-number":["GLD17\/00282"]}]},{"name":"Gilead Sciences Fellowship","award":["FPU17\/00361"],"award-info":[{"award-number":["FPU17\/00361"]}]},{"name":"Gilead Sciences Fellowship","award":["ACIF\/2021\/169"],"award-info":[{"award-number":["ACIF\/2021\/169"]}]},{"name":"Ministerio de Universisades of Spain","award":["17SGR437"],"award-info":[{"award-number":["17SGR437"]}]},{"name":"Ministerio de Universisades of Spain","award":["GLD17\/00282"],"award-info":[{"award-number":["GLD17\/00282"]}]},{"name":"Ministerio de Universisades of Spain","award":["FPU17\/00361"],"award-info":[{"award-number":["FPU17\/00361"]}]},{"name":"Ministerio de Universisades of Spain","award":["ACIF\/2021\/169"],"award-info":[{"award-number":["ACIF\/2021\/169"]}]},{"name":"Oncologia de Catalunya (XBTC)","award":["17SGR437"],"award-info":[{"award-number":["17SGR437"]}]},{"name":"Oncologia de Catalunya (XBTC)","award":["GLD17\/00282"],"award-info":[{"award-number":["GLD17\/00282"]}]},{"name":"Oncologia de Catalunya (XBTC)","award":["FPU17\/00361"],"award-info":[{"award-number":["FPU17\/00361"]}]},{"name":"Oncologia de Catalunya (XBTC)","award":["ACIF\/2021\/169"],"award-info":[{"award-number":["ACIF\/2021\/169"]}]},{"name":"Conseller\u00eda de Innovaci\u00f3n, Universidades, Ciencia y Sociedad digital (Generalitat Valenciana)","award":["17SGR437"],"award-info":[{"award-number":["17SGR437"]}]},{"name":"Conseller\u00eda de Innovaci\u00f3n, Universidades, Ciencia y Sociedad digital (Generalitat Valenciana)","award":["GLD17\/00282"],"award-info":[{"award-number":["GLD17\/00282"]}]},{"name":"Conseller\u00eda de Innovaci\u00f3n, Universidades, Ciencia y Sociedad digital (Generalitat Valenciana)","award":["FPU17\/00361"],"award-info":[{"award-number":["FPU17\/00361"]}]},{"name":"Conseller\u00eda de Innovaci\u00f3n, Universidades, Ciencia y Sociedad digital (Generalitat Valenciana)","award":["ACIF\/2021\/169"],"award-info":[{"award-number":["ACIF\/2021\/169"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>Novel treatments in chronic lymphocytic leukemia (CLL) have generated interest regarding the clinical impact of genomic complexity, currently assessed by chromosome banding analysis (CBA) and chromosomal microarray analysis (CMA). Optical genome mapping (OGM), a novel technique based on imaging of long DNA molecules labeled at specific sites, allows the identification of multiple cytogenetic abnormalities in a single test. We aimed to determine whether OGM is a suitable alternative to cytogenomic assessment in CLL, especially focused on genomic complexity. Cytogenomic OGM aberrations from 42 patients were compared with CBA, FISH, and CMA information. Clinical\u2013biological characteristics and time to first treatment (TTFT) were analyzed according to the complexity detected by OGM. Globally, OGM identified 90.3% of the known alterations (279\/309). Discordances were mainly found in (peri-)centromeric or telomeric regions or subclonal aberrations (&lt;15\u201320%). OGM underscored additional abnormalities, providing novel structural information on known aberrations in 55% of patients. Regarding genomic complexity, the number of OGM abnormalities had better accuracy in predicting TTFT than current methods (C-index: 0.696, 0.602, 0.661 by OGM, CBA, and CMA, respectively). A cut-off of \u226510 alterations defined a complex OGM group (C-OGM, n = 12), which included 11\/14 patients with \u22655 abnormalities by CBA\/CMA and one patient with chromothripsis (Kappa index = 0.778; p &lt; 0.001). Moreover, C-OGM displayed enrichment of TP53 abnormalities (58.3% vs. 3.3%, p &lt; 0.001) and a significantly shorter TTFT (median: 2 vs. 43 months, p = 0.014). OGM is a robust technology for implementation in the routine management of CLL patients, although further studies are required to define standard genomic complexity criteria.<\/jats:p>","DOI":"10.3390\/cancers14143376","type":"journal-article","created":{"date-parts":[[2022,7,11]],"date-time":"2022-07-11T21:57:53Z","timestamp":1657576673000},"page":"3376","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":46,"title":["Optical Genome Mapping: A Promising New Tool to Assess Genomic Complexity in Chronic Lymphocytic Leukemia (CLL)"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9627-4978","authenticated-orcid":false,"given":"Anna","family":"Puiggros","sequence":"first","affiliation":[{"name":"Molecular Cytogenetics and Hematological Cytology Laboratories, Pathology Department, Hospital del Mar, 08003 Barcelona, Spain"},{"name":"Translational Research on Hematological Neoplasms Group, Cancer Research Program, Institut Hospital del Mar d\u2019Investigacions M\u00e8diques (IMIM), 08003 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9175-7102","authenticated-orcid":false,"given":"Silvia","family":"Ramos-Campoy","sequence":"additional","affiliation":[{"name":"Molecular Cytogenetics and Hematological Cytology Laboratories, Pathology Department, Hospital del Mar, 08003 Barcelona, Spain"},{"name":"Translational Research on Hematological Neoplasms Group, Cancer Research Program, Institut Hospital del Mar d\u2019Investigacions M\u00e8diques (IMIM), 08003 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Kamaso","sequence":"additional","affiliation":[{"name":"Molecular Cytogenetics and Hematological Cytology Laboratories, Pathology Department, Hospital del Mar, 08003 Barcelona, Spain"},{"name":"Translational Research on Hematological Neoplasms Group, Cancer Research Program, Institut Hospital del Mar d\u2019Investigacions M\u00e8diques (IMIM), 08003 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1384-4590","authenticated-orcid":false,"given":"Mireia","family":"de la Rosa","sequence":"additional","affiliation":[{"name":"Molecular Cytogenetics and Hematological Cytology Laboratories, Pathology Department, Hospital del Mar, 08003 Barcelona, Spain"},{"name":"Translational Research on Hematological Neoplasms Group, Cancer Research Program, Institut Hospital del Mar d\u2019Investigacions M\u00e8diques (IMIM), 08003 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Salido","sequence":"additional","affiliation":[{"name":"Molecular Cytogenetics and Hematological Cytology Laboratories, Pathology Department, Hospital del Mar, 08003 Barcelona, Spain"},{"name":"Translational Research on Hematological Neoplasms Group, Cancer Research Program, Institut Hospital del Mar d\u2019Investigacions M\u00e8diques (IMIM), 08003 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carme","family":"Melero","sequence":"additional","affiliation":[{"name":"Molecular Cytogenetics and Hematological Cytology Laboratories, Pathology Department, Hospital del Mar, 08003 Barcelona, Spain"},{"name":"Translational Research on Hematological Neoplasms Group, Cancer Research Program, Institut Hospital del Mar d\u2019Investigacions M\u00e8diques (IMIM), 08003 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda","family":"Rodr\u00edguez-Rivera","sequence":"additional","affiliation":[{"name":"Molecular Cytogenetics and Hematological Cytology Laboratories, Pathology Department, Hospital del Mar, 08003 Barcelona, Spain"},{"name":"Translational Research on Hematological Neoplasms Group, Cancer Research Program, Institut Hospital del Mar d\u2019Investigacions M\u00e8diques (IMIM), 08003 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandrine","family":"Bougeon","sequence":"additional","affiliation":[{"name":"Oncogenomic Laboratory, Hematology Service, Lausanne University Hospital, 1011 Lausanne, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8205-6192","authenticated-orcid":false,"given":"Rosa","family":"Collado","sequence":"additional","affiliation":[{"name":"Department of Hematology, Consorcio Hospital General Universitario, 46014 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Gimeno","sequence":"additional","affiliation":[{"name":"Department of Hematology, Hospital del Mar, 08003 Barcelona, Spain"},{"name":"Applied Clinical Research in Hematological Malignances, Cancer Research Program, Institut Hospital del Mar d\u2019Investigacions M\u00e8diques (IMIM), 08003 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4857-1016","authenticated-orcid":false,"given":"Roc\u00edo","family":"Garc\u00eda-Serra","sequence":"additional","affiliation":[{"name":"Department of Hematology, Consorcio Hospital General Universitario, 46014 Valencia, Spain"},{"name":"Research Foundation from Hospital General Universitario, 46014 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Alonso","sequence":"additional","affiliation":[{"name":"Department of Hematology, Hospital Universitario Central de Asturias, 33011 Oviedo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9601-5757","authenticated-orcid":false,"given":"Marco Antonio","family":"Moro-Garc\u00eda","sequence":"additional","affiliation":[{"name":"Laboratory Medicine Department, Hospital Universitario Central de Asturias, 33011 Oviedo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Dolores","family":"Garc\u00eda-Malo","sequence":"additional","affiliation":[{"name":"Department of Hematology, Hospital Universitario Morales Meseguer, 30008 Murcia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7934-9130","authenticated-orcid":false,"given":"Xavier","family":"Calvo","sequence":"additional","affiliation":[{"name":"Molecular Cytogenetics and Hematological Cytology Laboratories, Pathology Department, Hospital del Mar, 08003 Barcelona, Spain"},{"name":"Translational Research on Hematological Neoplasms Group, Cancer Research Program, Institut Hospital del Mar d\u2019Investigacions M\u00e8diques (IMIM), 08003 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8176-7179","authenticated-orcid":false,"given":"Leonor","family":"Arenillas","sequence":"additional","affiliation":[{"name":"Molecular Cytogenetics and Hematological Cytology Laboratories, Pathology Department, Hospital del Mar, 08003 Barcelona, Spain"},{"name":"Translational Research on Hematological Neoplasms Group, Cancer Research Program, Institut Hospital del Mar d\u2019Investigacions M\u00e8diques (IMIM), 08003 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Ferrer","sequence":"additional","affiliation":[{"name":"Molecular Cytogenetics and Hematological Cytology Laboratories, Pathology Department, Hospital del Mar, 08003 Barcelona, Spain"},{"name":"Translational Research on Hematological Neoplasms Group, Cancer Research Program, Institut Hospital del Mar d\u2019Investigacions M\u00e8diques (IMIM), 08003 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tuomo","family":"Mantere","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Radboud University Medical Center, 6500 Nijmegen, The Netherlands"},{"name":"Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit and Biocenter Oulu, University of Oulu, 90570 Oulu, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Hoischen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Radboud University Medical Center, 6500 Nijmegen, The Netherlands"},{"name":"Radboud Center for Infectious Diseases (RCI), Department of Internal Medicine and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6532 Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline","family":"Schoumans","sequence":"additional","affiliation":[{"name":"Oncogenomic Laboratory, Hematology Service, Lausanne University Hospital, 1011 Lausanne, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4294-8145","authenticated-orcid":false,"given":"Blanca","family":"Espinet","sequence":"additional","affiliation":[{"name":"Molecular Cytogenetics and Hematological Cytology Laboratories, Pathology Department, Hospital del Mar, 08003 Barcelona, Spain"},{"name":"Translational Research on Hematological Neoplasms Group, Cancer Research Program, Institut Hospital del Mar d\u2019Investigacions M\u00e8diques (IMIM), 08003 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,7,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2745","DOI":"10.1182\/blood-2017-09-806398","article-title":"iwCLL guidelines for diagnosis, indications for treatment, response assessment, and supportive management of CLL","volume":"131","author":"Hallek","year":"2018","journal-title":"Blood"},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Gonz\u00e1lez-Gasc\u00f3n, I., Mu\u00f1oz-Novas, C., Rodr\u00edguez-Vicente, A.E., Quijada-\u00c1lamo, M., Hern\u00e1ndez-S\u00e1nchez, M., P\u00e9rez-Carretero, C., Ramos-Ascanio, V., and Hern\u00e1ndez-Rivas, J.A. 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