What question did this study set out to answer?

The research aims to explore the utility of plasma cfDNA sequencing in diagnosing lymphomas, particularly when traditional methods fail.

April 3, 2026Open Access

Molecular sleuthing: unmasking hidden lymphomas through plasma DNA sequencing

Key Points

The research aims to explore the utility of plasma cfDNA sequencing in diagnosing lymphomas, particularly when traditional methods fail.
Analyzed plasma cell-free DNA (cfDNA) using next-generation sequencing
Identified key lymphoma-associated mutations
Examined two cases of diffuse large B-cell lymphoma with atypical presentations
cfDNA sequencing detected lymphoma months before biopsy confirmation
Key mutations associated with lymphoma were identified
cfDNA showed potential as a non-invasive diagnostic tool for occult lymphoma

Abstract

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 inconclusive. These findings highlight cfDNA's potential as a non-invasive diagnostic tool for occult lymphoma. While further validation is needed, cfDNA may facilitate earlier intervention in challenging cases, improving patient outcomes.

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