Study
Mutational Landscape and Tumor Burden Assessed by Cell-Free DNA in Diffuse Large B-Cell Lymphoma: a Population-based Study
Study ID | Alternative Stable ID | Type |
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EGAS00001004733 | Other |
Study Description
Purpose: We analyzed the utility of cfDNA in a prospective population-based cohort to determine the mutational profile, assess tumor burden, and estimate its impact in response rate and outcome in patients with DLBCL.
Experimental Design: One-hundred patients were diagnosed with DLBCL during the study period. Mutational status of 112 genes was studied in cfDNA by targeted next-generation sequencing. Paired formalin-fixed paraffin-embedded samples and volumetric PET/CT were assessed when available.
Results: Appropriate cfDNA to perform the analyses was obtained in 79/100 cases. At least one mutation could be detected in 69/79 cases (87%). The sensitivity of cfDNA to detect the mutations was 68% (95% CI: 56.2-78.7). The mutational landscape found in cfDNA samples was highly consistent with that shown in the tissue and allowed genetic classification in 43% of the cases. A higher amount of ctDNA significantly correlated with clinical parameters related to tumor burden (elevated LDH and β2-microglobulin serum levels, advanced stage, and high-risk IPI) and total metabolic tumor volume ... (Show More)
Study Datasets 2 datasets.
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
Dataset ID | Description | Technology | Samples |
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EGAD00001006565 |
The mutational status of 112 recurrently mutated genes in B-cell lymphoma was examined by targeted next-generation sequencing (NGS). Libraries were performed with 150 ng of genomic DNA (gDNA) obtained from formalin-fixed paraffin-embedded (FFPE) biopsy using molecular-barcoded library adapters (ThruPLEX Tag-seq kit; Takara) coupled with a custom hybridization capture based method (SureSelect XT Target Enrichment System Capture strategy, Agilent Technologies Inc.) and sequenced in a MiSeq ... (Show More)
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45 | |
EGAD00001006566 |
The mutational status of 112 recurrently mutated genes in B-cell lymphoma was examined by targeted next-generation sequencing (NGS). Libraries were performed with 15-30 ng of cfDNA obtained from plasma using molecular-barcoded library adapters (ThruPLEX Tag-seq kit; Takara) coupled with a custom hybridization capture based method (SureSelect XT Target Enrichment System Capture strategy, Agilent Technologies Inc.) and sequenced in a MiSeq instrument (Illumina, 2x150bp).
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79 |
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