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Scientists have identified a more accurate way of predicting which patients with multiple myeloma, a type of blood cancer, are likely to relapse early following treatment.
A study carried out by a team of researchers from The Institute of Cancer Research, London, found that combining two types of genetic tests gives doctors a much better chance of identifying multiple myeloma patients who are at risk of early relapse.
Findings published in the journal Blood show that combining traditional DNA profiling with newer RNA gene expression testing significantly improves the ability to identify patients at risk of early relapse.
The authors suggest that detecting high-risk patients at an earlier stage enables doctors to tailor personalised treatment plans, potentially improving survival rates and quality of life.
Findings support more comprehensive genetic testing
They argue that the results support more comprehensive genetic testing at diagnosis to better guide treatment and disease monitoring of multiple myeloma, which affects over 33,000 people in the UK.
Multiple myeloma is a type of blood cancer that affects plasma cells in the bone marrow. While some patients respond well to standard treatments, others experience an early relapse, often within 18 months of therapy, even though they didn’t show any known high-risk signs at diagnosis.
As part of the new study, funded by the charity Myeloma UK and The Institute of Cancer Research (ICR), the research team looked at data from 135 patients who took part in the MyelomaXI clinical trial who had received the same treatment and had detailed genetic testing.
They tracked these patients for over seven years and found that 18.5 per cent of patients relapsed within 18 months, following a stem cell transplant. The results showed that 84 per cent of these early relapses could have been predicted by using two types of genetic tests together. Only two patients had a truly unexpected early relapse — meaning they had no known risk markers at diagnosis.
Spotting high-risk patients
Traditional DNA profiling looks for specific genetic changes in cancer cells that are linked to worse outcomes. The gene expression profiling test checks how active certain genes are and can spot high-risk patients that other tests might miss.
The Royal Marsden, a specialist cancer hospital in London, will implement and deliver the gene expression profiling test (MMprofiler) to patients in early 2026. The test will bolster the accuracy of diagnostic assessments, allowing consultants to better understand the behaviour of myeloma cancer cells before planning treatment. The test will be available to privately insured patients in the first instance, and an application to NICE for patient access in the NHS is planned. SkylineDx will be providing the MMprofiler technology needed for The Royal Marsden to develop the testing service.
The research was supported by the David Forbes-Nixon Family Charitable Foundation and the National Institute for Health and Care Research Royal Marsden Biomedical Research Centre supported some of the early research gene expression profiling that led to this work.
'RNA-based testing uncovers hidden risks in multiple myeloma'
Study leader Professor Martin Kaiser, Professor in Molecular Haematology at The Institute of Cancer Research, London, and Consultant Haematologist at The Royal Marsden NHS Foundation Trust, said:
“Multiple myeloma is a very complex disease. While current treatments can work very well for many patients, there are others who do not respond well and may relapse early. Some patients relapse early after treatment, even though they didn’t show any known high-risk signs at diagnosis.
“Our findings show that RNA-based testing can uncover hidden risks in multiple myeloma that DNA tests alone miss. By combining DNA profiling with RNA-based testing, we could change how we diagnose and treat the disease, allowing us to personalise care and intervene earlier for patients at greatest risk.”
'A powerful example of how precision diagnostics can transform patient care.'
Professor Kristian Helin, Chief Executive of The Institute of Cancer Research, London, said:
"This exciting discovery marks a major advance in our ability to identify and treat high-risk multiple myeloma more effectively. By combining DNA and RNA testing, our researchers have created a far more accurate method of predicting early relapse in this disease, which affects thousands in the UK and many more globally.
“It is a powerful example of how precision diagnostics can transform patient care. Earlier and more reliable identification of high-risk patients allows clinicians to tailor treatment plans from the outset, with the potential to improve both survival and quality of life. It also enables more efficient use of healthcare resources, ensuring that the right patients receive the right treatments at the right time.”
Shelagh McKinlay, Director of Research and Advocacy at blood cancer charity Myeloma UK, said:
“We believe that advanced genetic testing has the power to be transformative in the treatment of myeloma. By pinpointing which patients are most likely to relapse and stop responding to currently available drugs, we can improve the lives of thousands of people affected by this incurable cancer.
“It is a critical factor in delivering a functional cure, a key pillar of the Myeloma UK research strategy. Professor Kaiser’s research is a major step in bringing forward truly personalised treatment and care for people with myeloma, and we’re immensely proud to be funding this work.”