ISAL 2025 | Enumerating stem cells in the peripheral blood to diagnose hematological malignancies

So for many years we are diagnosing most blood malignancies looking at peripheral blood and looking for cytopenias or excess of cells. While we know that the cell of origin of many many different types of leukemia, both myeloid and lymphoid, is actually the stem cells. But for reasons that were not clear to us, we do not actually enumerate the stem cells or look at them. And the reason is that we do not have a very good reference for stem cells as we need to go and sample them from the bone marrow. But we have recently figured out that one can actually sample stem cells from the peripheral blood and by that actually creating a new normal reference model for stem cells and use it as a diagnostic tool. So what we did was to approach 150 healthy individuals with a normal blood count. We took their stem cells from the peripheral blood, enriched them, and performed both single-cell RNA sequencing and DNA sequencing of these cells. And by that we created a reference model that we can use to diagnose many different types of leukemia. The main type that we have reported in our most recent publication in Nature Medicine was how we can diagnose MDS from the peripheral blood. So we can diagnose MDS very accurately and give an indication about both karyotype blast percentage and basically any parameter which is needed for the WHO classification of MDS completely from the peripheral blood.

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