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The University of Southampton

Saving the lives of patients with chronic myeloid leukaemia

University of Southampton research into genetic characteristics of haematological malignancies has identified new disease subtypes and consequently saved patients’ lives. Our work has resulted in more precise diagnostic techniques used worldwide to detect specific molecular abnormalities and thereby target treatment more effectively. Methods to monitor treatment response using molecular criteria are now part of international guidelines.

Research Challenge

Around 600 people in the UK are diagnosed with chronic myeloid leukaemia (CML) each year and a further 100 with related atypical myeloproliferative neoplasms (aMPN). The introduction of targeted therapy for CML has transformed treatment, in contrast to those with aMPN whose outlook is generally considered poor.


Southampton’s research has focused on molecular monitoring of residual disease in CML patients to detect those who may be liable to suffer relapse, but also on identifying subsets of aMPN patients who may also benefit from targeted therapy.

Our Solution

Our researchers collaborated with international partners to improve and standardise a previously labour-intensive technique that could detect low levels of CML.

Cross-validation studies were performed and ‘gold standards’ for the process were developed, resulting in standardised calibration reagents being launched in 2012.

We also researched the molecular basis of aMPN and defined treatments that could save lives. Many disease subtypes were identified and work has already succeeded in identifying further mutated genes that may be useful for future therapies.

What was the impact?

Southampton’s research has driven the adoption of molecular monitoring that assesses the treatment response of CML patients in a far more sensitive way. This improvement reveals that remissive patients often harbour cells that may cause relapse and guidelines now recommend that patients are routinely monitored.

Our research also identified non-CML patients and detection tests are being used by specialist NHS laboratories in the UK and worldwide to diagnose aMPN..

Several of the newly identified gene fusions are sensitive to a particular targeted therapy in patients. The finding is a life saver for the 36 individuals estimated to have been saved as a result of our research.

Targeted Imatinib therapy

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Key Publications

List of all staff members in
Staff MemberPrimary Position
Nick CrossProfessor of Human Genetics, Director, Wessex Regional Genetics Laboratory
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