Optical genome mapping: a promising new tool to assess genomic complexity in chronic lymphocytic leukemia (CLL)

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• dc.contributor.author Puiggros Metje, Anna Maria
• dc.contributor.author Ramos Campoy, Silvia
• dc.contributor.author Kamaso Navarro, Joanna
• dc.contributor.author de la Rosa, Mireia
• dc.contributor.author Salido Galeote, Marta
• dc.contributor.author Melero Vilella, Maria Carme
• dc.contributor.author Rodríguez-Rivera, María
• dc.contributor.author Gimeno Vázquez, Eva
• dc.contributor.author Calvo, Xavier
• dc.contributor.author Arenillas Rocha, Leonor
• dc.contributor.author Ferrer Del Alamo, Ana
• dc.contributor.author Espinet Solà, Blanca
• dc.date.accessioned 2023-01-24T08:07:41Z
• dc.date.available 2023-01-24T08:07:41Z
• dc.date.issued 2022
• dc.description.abstract 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-biological 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 (<15-20%). 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 ≥10 alterations defined a complex OGM group (C-OGM, n = 12), which included 11/14 patients with ≥5 abnormalities by CBA/CMA and one patient with chromothripsis (Kappa index = 0.778; p < 0.001). Moreover, C-OGM displayed enrichment of TP53 abnormalities (58.3% vs. 3.3%, p < 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.
• dc.format.mimetype application/pdf
• dc.identifier.citation Puiggros A, Ramos-Campoy S, Kamaso J, de la Rosa M, Salido M, Melero C, et al. Optical genome mapping: a promising new tool to assess genomic complexity in chronic lymphocytic leukemia (CLL). Cancers (Basel). 2022 Jul 11; 14(14): 3376. DOI: 10.3390/cancers14143376
• dc.identifier.doi http://dx.doi.org/10.3390/cancers14143376
• dc.identifier.issn 2072-6694
• dc.identifier.uri http://hdl.handle.net/10230/55417
• dc.language.iso eng
• dc.publisher MDPI
• dc.rights Copyright © 2022 by Puiggros A, Ramos-Campoy S, Kamaso J, de la Rosa M, Salido M, Melero C, et al. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by/4.0/
• dc.subject.keyword Chromosomal microarrays
• dc.subject.keyword Chromosome banding analysis
• dc.subject.keyword Chronic lymphocytic leukemia
• dc.subject.keyword Genomic complexity
• dc.subject.keyword Optical genome mapping
• dc.subject.keyword Prognosis
• dc.title Optical genome mapping: a promising new tool to assess genomic complexity in chronic lymphocytic leukemia (CLL)
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion