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Liquid Biopsy-Derived DNA Sources as Tools for Comprehensive Mutation Profiling in Multiple Myeloma: A Comparative
Robbe Heestermans1,2,3, Wouter De Brouwer2,3, Ken Maes4
1Department of Clinical Biology, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Laarbeeklaan 101, 1090 Brussels, Belgium.
Cancers
|October 14, 2022
Summary
Cell-free DNA (cfDNA) from blood offers a comprehensive genetic profile for multiple myeloma (MM) patients, outperforming other liquid biopsy markers. Combining cfDNA with bone marrow DNA (BM-DNA) ensures thorough mutation detection in MM.
Area of Science:
- Hematology
- Oncology
- Molecular Biology
Background:
- Bone marrow (BM) analysis in multiple myeloma (MM) may underestimate tumor genetic heterogeneity.
- Liquid biopsies offer a potentially more comprehensive method for genetic characterization in MM.
- Limited comparative data exists for circulating biomarkers in MM mutation profiling, and extracellular vesicle-derived DNA (EV-DNA) in MM is unexplored.
Purpose of the Study:
- To compare the efficacy of various circulating DNA types against bone marrow DNA for mutation profiling in MM.
- To investigate the utility of EV-DNA for genetic characterization in MM.
- To identify the optimal circulating biomarker for MM genetic analysis.
Main Methods:
- Collected bone marrow aspirates and blood samples from 30 active MM patients.
- Isolated five DNA types: cell-free DNA (cfDNA), EV-DNA, BM-DNA, peripheral blood mononucleated cell DNA (PBMNCs-DNA), and circulating tumor cell DNA (CTC-DNA).
- Performed targeted gene sequencing using a 165-gene panel on 149 DNA samples.
Main Results:
- Detected 87 somatic and 39 germline variants across the analyzed DNA samples.
- cfDNA demonstrated the highest concordance with BM-DNA mutation profiles.
- cfDNA outperformed EV-DNA, CTC-DNA, and PBMNCs-DNA in capturing MM genetic variants.
- 16% of all detected somatic variants were exclusively found in circulating biomarkers.
Conclusions:
- Cell-free DNA (cfDNA) is the preferred circulating biomarker for genetic characterization in multiple myeloma (MM).
- Combining cfDNA with bone marrow DNA (BM-DNA) enables comprehensive mutation profiling in MM patients.
- Liquid biopsies, particularly cfDNA, can capture genetic heterogeneity missed by bone marrow analysis alone.
