In-depth circulating tumor DNA sequencing for prognostication and monitoring in natural killer/T-cell lymphomas.

ABSTRACT:

Background

Epstein-Barr virus (EBV) quantitation and current imaging modalities are used for diagnosis and disease monitoring in Extranodal NK/T cell lymphoma (ENKTL) but have limitations. Thus, we explored the utility of circulating tumor DNA (ctDNA) as a diagnostic biomarker.

Methods

Through in-depth sequencing of 118 blood samples collected longitudinally at different time points from 45 patients, we examined the mutational profile of each sample, estimated its impact on the clinical outcome, and assessed its role as a biomarker in comparison with EBV DNA quantitation.

Results

The ctDNA concentration was correlated with treatment response, stage, and EBV DNA quantitation. The detection rate of ctDNA mutation was 54.5%, with BCOR (21%) being the most commonly

SUBMITTER: Kim JJ 

PROVIDER: S-EPMC9954142 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature