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Circulating Tumor DNA in Pediatric Mature B-Cell Non-Hodgkin Lymphoma for Genotyping and Minimal Disease Monitoring

Werner J, Damm-Welk C, Rohde M, Hundsdörfer P, Vieth S, Karow A, Barnbrock A, Klapper W, Richter J, Koslowski C, Kruppa L, Alawi M, Alfert A, Burkhardt B, Wößmann W, Knörr F (2025)

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Publication Type: Journal article

Publication year: 2025

Journal

DOI: 10.1002/pbc.31895

Abstract

Background: Early detection of treatment failure in pediatric patients with mature B-cell non-Hodgkin lymphoma (NHL) could improve treatment stratification. Analysis of circulating tumor DNA (ctDNA) has been established as a biomarker in adult patients with mature B-cell NHL (B-NHL); however, data on ctDNA in pediatric mature B-NHL are lacking. Methods: We investigated genotyping and disease monitoring in initial plasma cell-free DNA (cfDNA) by targeted, normal-matched sequencing in 19 pediatric patients with mature B-NHL, 16 of whom had Burkitt lymphoma or leukemia. Matching lymphoma DNA was available in 18 patients. Results: Concentrations of cfDNA were 2.6–36 × 10³ haploid genome equivalents/mL plasma (median, 7.8 × 10³). In 10 patients with high-risk disease (risk groups R3 and R4), 60% of somatic short variants were detected in both plasma and lymphoma samples using a tumor-agnostic approach, whereas 26% and 14% were identified in DNA from lymphoma or plasma samples only. In 4/10 patients with high-risk disease, eight non-silent variants were identified only in the plasma samples. In patients with low-risk disease, 27% of mutations were shared in plasma and tumor; 65% and 8% were detected in DNA from lymphoma or plasma samples only. In a tumor-informed approach, ctDNA was detectable in 16/18 plasma samples with a proportion of 0.045%–55%, demonstrating its potential for minimal disease monitoring. Conclusions: Non-invasive genotyping from a plasma sample is feasible in high-risk pediatric mature B-cell lymphoma patients. Our findings provide the basis for investigating the clinical utility of non-invasive lymphoma genotyping and disease monitoring in pediatric mature B-NHL.

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How to cite

APA:

Werner, J., Damm-Welk, C., Rohde, M., Hundsdörfer, P., Vieth, S., Karow, A.,... Knörr, F. (2025). Circulating Tumor DNA in Pediatric Mature B-Cell Non-Hodgkin Lymphoma for Genotyping and Minimal Disease Monitoring. Pediatric Blood & Cancer. https://doi.org/10.1002/pbc.31895

MLA:

Werner, Jana, et al. "Circulating Tumor DNA in Pediatric Mature B-Cell Non-Hodgkin Lymphoma for Genotyping and Minimal Disease Monitoring." Pediatric Blood & Cancer (2025).

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