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Related Experiment Video

Updated: Oct 16, 2025

Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
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Published on: June 8, 2019

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[Circulating Tumor DNA Analysis in Lymphomas].

Yasuhito Suehara1

  • 1Dept. of Hematology, University of Tsukuba Hospital.

Gan to Kagaku Ryoho. Cancer & Chemotherapy
|October 17, 2021
PubMed
Summary

Circulating tumor DNA (ctDNA) analysis offers a non-invasive method for lymphoma management, aiding in diagnosis and monitoring. While not replacing biopsies, ctDNA detection shows promise for specific extranodal lymphomas like IVLBCL and PCNSL.

Area of Science:

  • Hematology
  • Oncology
  • Molecular Diagnostics

Background:

  • Sequencing of circulating tumor DNA (ctDNA) is a promising non-invasive technique for malignant lymphomas.
  • Current ctDNA detection methods include PCR-based assays and next-generation sequencing, targeting lymphoma-specific genetic alterations.
  • ctDNA analysis cannot replace traditional tissue biopsies for initial lymphoma diagnosis due to the importance of histological architecture.

Purpose of the Study:

  • To explore the utility of ctDNA analysis in the diagnosis and management of malignant lymphomas.
  • To highlight the potential of ctDNA detection in specific extranodal lymphomas, such as intravascular large B-cell lymphoma (IVLBCL) and primary CNS lymphoma (PCNSL).
  • To discuss the advantages of ctDNA analysis, including capturing tumor heterogeneity and continuous disease monitoring.

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Main Methods:

  • Review of current technologies for ctDNA detection, including PCR-based methods and next-generation sequencing.
  • Analysis of specific genetic targets in ctDNA relevant to lymphomas, such as single nucleotide variants, structural variants, copy number alterations, and gene rearrangements.
  • Discussion of the application of ctDNA analysis in challenging cases like IVLBCL and PCNSL, focusing on shared mutations (e.g., MYD88 L265P, CD79B).

Main Results:

  • ctDNA analysis is a valuable tool for genotyping, risk stratification, response monitoring, and detecting actionable mutations in lymphomas.
  • ctDNA detection can be particularly useful for prompt diagnosis of IVLBCL and PCNSL, where traditional biopsies are difficult.
  • ctDNA provides insights into spatial tumor heterogeneity, prognostic factors, and treatment-resistant clones, offering a dynamic view of disease burden.

Conclusions:

  • ctDNA liquid biopsy is a powerful, non-invasive adjunct to conventional diagnostics for malignant lymphomas.
  • Development of unique gene panels for ctDNA analysis is necessary due to distinct genomic abnormalities in hematologic malignancies.
  • Initiatives in Japan are progressing towards establishing systems for genomic and precision medicine in hematologic malignancies.