Feasibility of IG and TCR rearrangements quantification in ctDNA for monitoring clinical response in pediatric lymphomas.

Authors

Milena R Marusco, Rudolph R Vera, Caroline de O Lopes, Natacha A Migita, Dieila G De Lima, Felipe L T Silva, Guilherme N N Giusti, João Meidanis, Camila M M Daiggi, Camila Z Mouco, José A Yunes, Mariana C Maschietto, Patricia Y Jotta

Published in

Frontiers in genetics. Volume 17. Pages 1875204. Epub Jun 25, 2026.

Abstract

Lymphomas are malignancies of the lymphatic system characterized by clonal rearrangements of immunoglobulin (Ig) and T-cell receptor (TCR) genes. While diagnosis relies on tissue biopsy, circulating tumor DNA (ctDNA) analysis offers a minimally invasive approach for real-time disease monitoring. This study evaluated next-generation sequencing (NGS) for the detection and quantification of Ig and TCR rearrangements in ctDNA from pediatric lymphoma patients.
Forty cases (21 Hodgkin and 19 non-Hodgkin lymphomas) were analyzed using NGS with BIOMED-2 and EuroClonality primers.
Clonal rearrangements were identified in tumor DNA from 23 patients, yielding 54 rearrangements. For 19 patients, paired tumor (gDNA) and plasma (cfDNA) at diagnosis samples were analyzed. Most of the rearrangements identified in these tumor samples (n = 48) were found in the corresponding diagnostic cfDNA (n = 43, 89.6%). Patients who relapsed showed significantly higher cfDNA levels at diagnosis, and in one case, ctDNA increase preceded clinical or radiological relapse.
These findings support liquid biopsy as a feasible tool for monitoring disease dynamics and early relapse detection in pediatric lymphoma.

PMID:
42422492
Bibliographic data and abstract were imported from PubMed on 09 Jul 2026.

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