Cell-free DNA for detection of clonal B cells in diffuse large B cell lymphoma by sequencing

Research output: Contribution to journalJournal articleResearchpeer-review


INTRODUCTION: Diffuse large B cell lymphoma (DLBCL) is the most common lymphoma in the western world. It is highly heterogeneous with a variable clinical course, but curable with chemo-immunotherapy in up to 70% of all cases. The lymphoma presents in lymph nodes and/or extranodal lymphoid tissue, and the diagnosis is based on invasive procedures for histopathologic evaluation.

METHODS: In this technical study, we evaluated cell-free DNA (cfDNA) from blood plasma to detect clonal B cells in patients with DLBCL using rearranged immunoglobulin heavy chain gene as targets by next-generation sequencing. Clonal B cell sequences and frequencies were determined from blood plasma cfDNA and cellular DNA from matched excised lymphoma tissues and mononuclear cells isolated from diagnostic bone marrow and blood samples from 15 patients.

RESULTS: We showed that identical clonal rearrangements could be detected in blood plasma and excised lymphoma tissue and that plasma cfDNA was superior in detecting clonal rearrangements compared to blood or bone marrow-derived cellular DNA.

CONCLUSION: These findings consolidate the role of blood plasma as a reliable and easily accessible source for detecting neoplastic cells in DLBCL.

Original languageEnglish
JournalInternational Journal of Laboratory Hematology
Issue number5
Pages (from-to)735-742
Publication statusPublished - Oct 2023


  • cell-free DNA (cfDNA)
  • diffuse large B cell lymphoma (DLBCL)
  • immunoglobulin heavy chain (IgH) sequencing
  • matched tissue samples
  • next generation sequencing (NGS)
  • B-Lymphocytes/pathology
  • Bone Marrow/pathology
  • Cell-Free Nucleic Acids
  • Lymphoma, Large B-Cell, Diffuse/diagnosis
  • Humans
  • High-Throughput Nucleotide Sequencing


Dive into the research topics of 'Cell-free DNA for detection of clonal B cells in diffuse large B cell lymphoma by sequencing'. Together they form a unique fingerprint.

Cite this