Year: 2026
Type: article
Study design: Case Report
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.
Source: Journal of Medical Genetics
Language: English
Subfield: Pathology and Forensic Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W7147745166