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Article

Molecular sleuthing: unmasking hidden lymphomas through plasma DNA sequencing.

Journal of medical genetics - 25 Jun 2026

Bonnot Mathilde, Bertin Pauline, Maillet Thibault, Guyotat Nicolas, Bloch Julliane, Chevreux Steeve, Mosnier Isabelle, Ghesquières Hervé, Pechenot Audrey, Desestret Virginie, Sujobert Pierre, Huet Sarah

Abstract excerpt

Diagnosing lymphomas can be challenging, particularly in atypical presentations lacking histological confirmation. We report two cases where next-generation sequencing of plasma cell-free DNA (cfDNA) enabled the early detection of diffuse large B-cell lymphoma, months before biopsy confirmation. cfDNA analysis identified key lymphoma-associated mutations, guiding diagnosis when conventional investigations were...

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Share to Biomarkers, Tumor
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

Share to Lymphoma, Large B-Cell, Diffuse

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Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 41916725
DOI: 10.1136/jmg-2025-111458

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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