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EHA 2026 | The potential of using WGS of CTCs to monitor for genetic alterations in multiple myeloma
Bruno Paiva, PhD, University of Navarra, Pamplona, Spain, discusses the potential of using whole genome sequencing (WGS) of circulating tumor cells (CTCs) as a minimally invasive method for monitoring genetic alterations in patients with multiple myeloma (MM). Dr Paiva highlights that the genomic architecture of CTCs is almost identical to that of myeloma cells in the bone marrow, with high concordance with gold-standard assays, enabling more frequent longitudinal tracking of genetic alterations from blood samples. This interview took place at the 31st Congress of the European Hematology Association (EHA) in Stockholm, Sweden.
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Transcript
Well, I think this is an excellent opportunity. This is something that our group and others in the field have been looking for quite some time. Fortunately now, through international collaboration and particularly the advent of methodologies pioneered by predictive biosciences, it is possible nowadays not only to detect and quantify circulating tumor cells, CTCs, but also to isolate using high-sensitivity flow cytometry and characterize from the genomic point of view these rare few cells in the peripheral blood...
Well, I think this is an excellent opportunity. This is something that our group and others in the field have been looking for quite some time. Fortunately now, through international collaboration and particularly the advent of methodologies pioneered by predictive biosciences, it is possible nowadays not only to detect and quantify circulating tumor cells, CTCs, but also to isolate using high-sensitivity flow cytometry and characterize from the genomic point of view these rare few cells in the peripheral blood. And what we will present here at EHA is that the genomic architecture of CTCs is almost identical to what you can find in the bone marrow. The results are very much comparable to gold standard assays such as FISH. So the concordance is very high, meaning that you can have the genomic information from the patient using a minimally invasive method that empowers you to interrogate the presence of genetic alterations over and over again longitudinally. And I think that one very interesting application of this is, for example, in the setting of relapsed/refractory patients, in whom you don’t necessarily need to repeat a bone marrow aspirate, because there are other less invasive markers of disease progression, and you can actually rely on blood specimens and in CTCs, for example, to investigate the presence of genetic alterations in genes that are therapeutic targets, such as BCMA, GPRC5D, CD38, and thereby predict if the patient may or may not respond to new immunotherapies.
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