Cell-Free DNA for Genomic Analysis in Primary Mediastinal Large B-Cell Lymphoma.
cell-free DNA
copy number analysis
mutational profile
primary mediastinal large B-cell lymphoma
Journal
Diagnostics (Basel, Switzerland)
ISSN: 2075-4418
Titre abrégé: Diagnostics (Basel)
Pays: Switzerland
ID NLM: 101658402
Informations de publication
Date de publication:
28 Jun 2022
28 Jun 2022
Historique:
received:
15
05
2022
revised:
23
06
2022
accepted:
27
06
2022
entrez:
27
7
2022
pubmed:
28
7
2022
medline:
28
7
2022
Statut:
epublish
Résumé
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
Identifiants
pubmed: 35885481
pii: diagnostics12071575
doi: 10.3390/diagnostics12071575
pmc: PMC9324191
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Instituto de Salud Carlos III
ID : PI16/00420 and PI19/00887 to ALG and EG, PI17/00313 to LC, PI19/0005 to BB and PI19/00034 to AS
Organisme : Centro de Investigación Biomédica en Red de Cáncer
ID : CB16/12/00334, CB16/12/00225 and CB16/12/00241
Organisme : European Union
ID : European Union's Horizon 2020 research and innovation programme and the Canadian Institutes of Health Research [grant number 825835 to EC
Organisme : European Hematology Association
ID : RG-202012-00245
Organisme : American Association For Cancer Research
ID : 2021 AACR-Amgen Fellowship in Clinical/Translational Cancer Research, Grant Number 21-40-11-NADE
Organisme : Lady Tata Memorial Trust
ID : International Award for Research in Leukaemia 2021-2022, Grant Number LADY_TATA_21_3223
Organisme : Government of Catalonia
ID : 2018-BP-00055, ICREA AND CERCA PROGRAM
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