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iwHRMM 2025 | Beyond genetics: how RNA profiling enhances risk detection in multiple myeloma
Martin Kaiser, MD, FRCP, FRCPath, The Royal Marsden NHS Foundation Trust, London, UK, discusses the limitations of DNA and genetic testing in multiple myeloma and highlights the value of gene expression profiling in providing additional insights. Dr Kaiser notes that by combining DNA and RNA gene expression testing, his research team identified around 80% of patients with high-risk disease at diagnosis, compared with 60% with genetic testing alone. This interview took place at the 2nd International Workshop on High-Risk Multiple Myeloma (iwHRMM 2025), held in Charleston, SC.
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Transcript
Both through our work, but also through other groups’ work, it has become increasingly apparent that we can learn a lot through DNA testing and genetic testing of mutations, but they tell us only part of the story. They tell us probably what happened in the past with the cell and what genomic damage the cell has acquired, also what genomic drivers. But it doesn’t tell us so much about what the cell is doing in that very moment and time when we do the bone marrow biopsy...
Both through our work, but also through other groups’ work, it has become increasingly apparent that we can learn a lot through DNA testing and genetic testing of mutations, but they tell us only part of the story. They tell us probably what happened in the past with the cell and what genomic damage the cell has acquired, also what genomic drivers. But it doesn’t tell us so much about what the cell is doing in that very moment and time when we do the bone marrow biopsy. And that’s really where gene expression profiling is coming in. It tells us much more about the current state of the cell. Is it preparing to divide? Is it actually growing at that point? Or is it quiescent? And that has been an insight that has been gained for a long time. But I think what has clearly changed is our approach, how we profile the DNA of the cell. Of course, there’s a need then for a re-evaluation as to how much does the information that the gene expression or the RNA contain add to that information. And that’s what we looked into. We looked into a group of patients that were treated in a clinical trial, all received the same treatment, all were actually profiled by both DNA and RNA gene expression testing as well. And then we focused on the group that had an early relapse, which of course in clinical practice is what we want to avoid. We would like to actually give different treatment. And for that, we need to know beforehand whether the patient has high-risk disease or not. So we looked at how many of these patients, what we have identified just with the genetic testing by the updated IMWG genetic criteria. And it was 60% of patients. So we were missing still 40% in total. When we added the RNA gene expression testing, we identified another 20%. And suddenly that means we can now identify probably around 80% of patients already at diagnosis and then work with our treatment towards preventing the relapse. I think that’s really the diagnostic gap. That’s the blind spot that we have at the moment with just genetic testing. That’s what it fills if we add gene expression testing to it. And that’s actually something that we are working on at our institution now to really integrate into the diagnostic pathway for patients.
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