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Cell-Free DNA for Genomic Analysis in Primary Mediastinal Large B-Cell Lymphoma_Diagnostics.pdf (1.89 MB)

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2022-06-28

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cc by (c) Rivas Delgado, Alfredo et al, 2022
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/200293

Cell-Free DNA for Genomic Analysis in Primary Mediastinal Large B-Cell Lymphoma

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https://doi.org/10.3390/diagnostics12071575

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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.

Matèries

Limfomes, Genòmica

Matèries (anglès)

Lymphomas, Genomics

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Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)

Citació

RIVAS DELGADO, Alfredo, NADEU PRAT, Ferran, Andrade Campos Marcio, LÓPEZ GONZÁLEZ, Cristina, ENJUANES, Anna, MOZAS, Pablo, FRIGOLA, Gerard, COLOMO SAPERAS, Lluís, SÁNCHEZ GONZÁLEZ, Blanca, VILLAMOR I CASAS, Neus, BEÀ BOBET, Sílvia m., CAMPO GÜERRI, Elias, SALAR, Antonio, GINÉ SOCA, Eva, LÓPEZ GUILLERMO, Armando, BELLOSILLO PARICIO, Beatriz. Cell-Free DNA for Genomic Analysis in Primary Mediastinal Large B-Cell Lymphoma. _Diagnostics_. 2022. Vol. 12, núm. 7. [consulta: 25 de febrer de 2026]. ISSN: 2075-4418. [Disponible a: https://hdl.handle.net/2445/200293]

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