Genetic Profiling of Cell-Free DNA in Liquid Biopsies: A Complementary Tool for the Diagnosis of B-Cell Lymphomas and the Surveillance of Measurable Residual Disease

CANCERS — 2023 

Figaredo G., et al.

This study showed that cfDNA genetic profiling from liquid biopsy can complement tissue biopsy for B-cell lymphoma diagnosis and PET/CT for MRD surveillance. 

Topics

Hematologic malignancies · B-cell lymphoma · Follicular lymphoma · Large B-cell lymphoma · MRD · PET/CT · DxPanels · TRACKseq

Expanded summary

This prospective multicenter study assessed the value of plasma cfDNA liquid biopsy for genetic profiling and measurable residual disease surveillance in B-cell lymphomas, including follicular lymphoma and large B-cell lymphoma. The study compared NGS results from liquid biopsy with paired tissue biopsy at diagnosis.

Mutations were identified in 71% of liquid biopsy samples and 95% of tissue biopsies, with additional mutations detected in liquid biopsy when tissue was unavailable or non-informative. For MRD surveillance, liquid biopsy showed lower sensitivity than PET/CT but higher specificity in the study comparison.

This article supports Altum’s positioning around liquid biopsy as a complementary diagnostic and monitoring tool, connecting baseline genomic profiling, cfDNA analysis, NGS and MRD surveillance in B-cell lymphomas.

View article: https://doi.org/10.3390/cancers15164022