Integrated genomic profiling shows high concordance of alterations in plasma and bone marrow in multiple myeloma, suggesting liquid biopsy as a viable monitoring method.
Key Points
This research investigates the potential of integrated sequencing of cell-free DNA and RNA for profiling multiple myeloma.
Collected bone marrow and plasma samples from 19 newly diagnosed multiple myeloma patients.
Performed genomic and transcriptomic profiling using next-generation sequencing.
Analyzed variations in DNA and RNA to identify genetic alterations and concordances between tissues.
Detected a median of 7 coding somatic mutations per bone marrow sample, with 85.7% concordance to plasma.
Identified circulating tumor cells in all patients, correlating with bone marrow plasma cells.
Liquid biopsy effectively recapitulated genomic alterations from bone marrow samples.