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Original Article
- Hematologic malignancy
- Circulating Tumor DNA Reflects Histologic and Clinical Characteristics of Various Lymphoma Subtypes
- Jin Ju Kim, Hye Min Kim, Hongkyung Kim, Soo-Jeong Kim, Seung-Tae Lee, Jong Rak Choi, Saeam Shin, Doh Yu Hwang
- Cancer Res Treat. 2024;56(1):314-323. Published online July 17, 2023
- DOI: https://doi.org/10.4143/crt.2023.667
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Abstract
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Supplementary Material
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ePub - Purpose
We designed and evaluated the clinical performance of a plasma circulating tumor DNA (ctDNA) panel of 112 genes in various subtypes of lymphoma.
Materials and Methods
Targeted deep sequencing with an error-corrected algorithm was performed in ctDNA from plasma samples that were collected before treatment in 42 lymphoma patients. Blood buffy coat was utilized as a germline control. We evaluated the targeted gene panel using mutation detection concordance on the plasma samples with matched tissue samples analyzed the mutation profiles of the ctDNA.
Results
Next-generation sequencing analysis using matched tissue samples was available for 18 of the 42 patients. At least one mutation was detected in the majority of matched tissue biopsy samples (88.9%) and plasma samples (83.3%). A considerable number of mutations (40.4%) that were detected in the tissue samples were also found in the matched plasma samples. Majority of patients (21/42) were diffuse large B cell lymphoma patients. The overall detection rate of ctDNA in patients was 85.7% (36/42). The frequently mutated genes included PIM1, TET2, BCL2, KMT2D, KLHL6, HIST1H1E, and IRF8. A cutoff concentration (4,506 pg/mL) of ctDNA provided 88.9% sensitivity and 82.1% specificity to predict ctDNA mutation detection. The ctDNA concentration correlated with elevated lactate dehydrogenase level and the disease stage.
Conclusion
Our design panel can detect many actionable gene mutations, including those at low frequency. Therefore, liquid biopsy can be applied clinically in the evaluation of lymphoma patients, especially in aggressive lymphoma patients. -
Citations
Citations to this article as recorded by
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Expert Review of Molecular Diagnostics.2025; 25(6): 275. CrossRef - Circulating tumor DNA refines risk stratification of neoadjuvant therapy-resistant breast tumors
Mark Jesus M. Magbanua, Nayelis A. Manon, Denise M. Wolf, Samuel Rivero-Hinojosa, Ziad Ahmed, Rosalyn W. Sayaman, Antony Tin, Derrick Renner, Ekaterina Kalashnikova, Lamorna Brown-Swigart, Gillian L. Hirst, Christina Yau, Wen Li, Claudine Isaacs, Rebecca
Nature Communications.2025;[Epub] CrossRef - Clinical applications of circulating tumor DNA in hematological malignancies: From past to the future
Jun-Ying Li, Li-Ping Zuo, Jian Xu, Chun-Yan Sun
Blood Reviews.2024; 68: 101237. CrossRef
- Circulating tumor DNA as a powerful tool in diagnostics and treatment outcome prediction – focus on large B–cell lymphomas and follicular lymphomas
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