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Cell-free DNA for genomic analysis in primary mediastinal large B-cell lymphoma

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dc.contributor.author Rivas-Delgado, Alfredo
dc.contributor.author Nadeu, Ferran
dc.contributor.author Andrade-Campos, Marcio
dc.contributor.author López, Cristina
dc.contributor.author Enjuanes¸ Anna
dc.contributor.author Mozas, Pablo
dc.contributor.author Frigola, Gerard
dc.contributor.author Colomo Saperas, Luis Alberto
dc.contributor.author Sánchez González, Blanca
dc.contributor.author Villamor, Neus
dc.contributor.author Beà, Sílvia
dc.contributor.author Campo, Elias
dc.contributor.author Salar Silvestre, Antonio
dc.contributor.author Giné, Eva
dc.contributor.author López Guillermo, Armando
dc.contributor.author Bellosillo Paricio, Beatriz
dc.date.accessioned 2023-02-01T07:37:30Z
dc.date.available 2023-02-01T07:37:30Z
dc.date.issued 2022
dc.identifier.citation Rivas-Delgado A, Nadeu F, Andrade-Campos M, López C, Enjuanes A, Mozas P, et al. Cell-free DNA for genomic analysis in primary mediastinal large B-cell lymphoma. Diagnostics (Basel). 2022 Jun 28; 12(7): 1575. DOI: 10.3390/diagnostics12071575
dc.identifier.issn 2075-4418
dc.identifier.uri http://hdl.handle.net/10230/55508
dc.description.abstract High-throughput sequencing of cell-free DNA (cfDNA) has emerged as a promising noninvasive approach in lymphomas, being particularly useful when a biopsy specimen is not available for molecular analysis, as it frequently occurs in primary mediastinal large B-cell lymphoma (PMBL). We used cfDNA for genomic characterization in 20 PMBL patients by means of a custom NGS panel for gene mutations and low-pass whole-genome sequencing (WGS) for copy number analysis (CNA) in a real-life setting. Appropriate cfDNA to perform the analyses was obtained in 18/20 cases. The sensitivity of cfDNA to detect the mutations present in paired FFPE samples was 69% (95% CI: 60-78%). The mutational landscape found in cfDNA samples was highly consistent with that of the tissue, with the most frequently mutated genes being B2M (61%), SOCS1 (61%), GNA13 (44%), STAT6 (44%), NFKBIA (39%), ITPKB (33%), and NFKBIE (33%). Overall, we observed a 75% concordance to detect CNA gains/losses between DNA microarray and low-pass WGS. The sensitivity of low-pass WGS was remarkably higher for clonal CNA (18/20, 90%) compared to subclonal alterations identified by DNA microarray. No significant associations between cfDNA amount and tumor burden or outcome were found. cfDNA is an excellent alternative source for the accurate genetic characterization of PMBL cases.
dc.description.sponsorship This study has been funded by Instituto de Salud Carlos III (ISCIII) through the projects PI16/00420 and PI19/00887 to A.L.-G. and E.G., PI17/00313 to L.C., PI19/0005 to B.B., and PI19/00034 to A.S., and co-funded by the European Union; CIBERONC [grant numbers CB16/12/00334, CB16/12/00225, and CB16/12/00241]; and the European Union’s Horizon 2020 research and innovation programme and the Canadian Institutes of Health Research [grant number 825835 to E.C.]. F.N. acknowledges the research support from the American Association for Cancer Research (2021 AACR-Amgen Fellowship in Clinical/Translational Cancer Research, Grant Number 21-40-11-NADE), the European Hematology Association (EHA Junior Research Grant 2021, Grant Number RG-202012-00245), and the Lady Tata Memorial Trust (International Award for Research in Leukaemia 2021–2022, Grant Number LADY_TATA_21_3223). C.L. is supported by postdoctoral Beatriu de Pinós from Secretaria d’Universitats I Recerca del Departament d’Empresa i Coneixement de la Generalitat de Catalunya and by Marie Sklodowska-Curie COFUND program from H2020 (2018-BP-00055). E.C. is an Academia Researcher of the “Institució Catalana de Recerca i Estudis Avançats” (ICREA) [no grant number applies] of the Generalitat de Catalunya. We also acknowledge the support of the CERCA Program from Generalitat de Catalunya [no grant number applies].
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher MDPI
dc.rights Copyright © 2022 by Rivas-Delgado A, Nadeu F, Andrade-Campos M, López C, Enjuanes A, Mozas P, 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.uri http://creativecommons.org/licenses/by/4.0/
dc.title Cell-free DNA for genomic analysis in primary mediastinal large B-cell lymphoma
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.3390/diagnostics12071575
dc.subject.keyword Cell-free DNA
dc.subject.keyword Copy number analysis
dc.subject.keyword Mutational profile
dc.subject.keyword Primary mediastinal large B-cell lymphoma
dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/825835
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion

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