cfDNA as alternative to bone marrow cells for molecular diagnostics and MM monitoring

In this presentation, Dory Abelman, a PhD candidate at the Princess Margaret Cancer Centre, University of Toronto, assesses the concordance of molecular profiles between cancer cells derived from bone marrow (BM) and those obtained using cell-free DNA (cfDNA) from peripheral blood and BM plasma.

Samples from 27 patients underwent sequencing using targeted panels encompassing exons from 37 genes, all immunoglobulin loci, translocations and copy number variations, employing NGS and sWGS.

A noteworthy observation emerged when tumour fraction estimates exceeded 5%, indicating that more than 5% of the genome was altered by copy number aberrations. Under these conditions, a high concordance in copy number variations and factors such as del(1p,13q) and amp(1q) was identified in both peripheral blood and BM plasma cfDNA compared to BM cells. Given the cost-effectiveness of sWGS, this assay could potentially conserve BM cells, which are conventionally utilized in FISH assays.

Across the targeted panel, immunoglobulin rearrangements demonstrated a concordance of over 90% between BM cells and cfDNA in peripheral blood and BM plasma. Over time, monitoring immunoglobulin rearrangements may prove valuable for MM surveillance.

Reference:

Abelman D, ASH2023. #4693

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