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.
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.
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.