In a study published today in Nature Medicine, researchers from the University of Oxford and the Muhimbili University of Health and Allied Sciences (MUHAS) in Dar es salaam, Tanzania have shown that a minimally invasive “liquid biopsy” test can diagnose Burkitt lymphoma rapidly and accurately in sub-Saharan Africa, where delays in traditional testing often prove fatal.
Despite its aggressive nature, Burkitt lymphoma is often curable when treated quickly, with survival rates over 90%. Treatment is widely available and free-of-charge in most sub-Saharan countries, however current diagnostic tests demand specialist expertise and laboratory equipment that are often unavailable in resource-limited settings. Due to this, most children either remain undiagnosed or are diagnosed too late. In much of the region, survival rates can fall below 50%.
“There is an urgent need for new diagnostic methods that are practical and effective in the under-resourced settings where Burkitt lymphoma is most common”, said Anna Schuh, Professor of Molecular Diagnostics at the University of Oxford and lead researcher on the study. “This is a highly treatable cancer, yet too many children and young adults are not diagnosed in time. As a minimally invasive and precise approach, liquid biopsy tests have enormous potential to transform diagnosis in sub-Saharan Africa and significantly improve outcomes.”
Liquid biopsies detect tiny amounts of DNA released by cancer cells into the blood. Using a simple blood sample, scientists can identify specific genetic changes that are characteristic of Burkitt lymphoma and distinguish them from DNA from healthy cells or other tumour types.
Prof. Anna Schuh and her team in Oxford, working in collaboration with researchers at MUHAS in Tanzania, the Central Public Health Laboratory in Kampala, Uganda and 4 study sites in these countries have developed a minimally invasive liquid biopsy test for the rapid and precise detection of Burkitt lymphoma. This is the first indication that liquid biopsies might play a big role in diagnosing other cancers in sub-Saharan Africa.
The international research team evaluated the liquid biopsy test in a large group of children and young adults who presented with clinical signs of lymphoma across four hospitals in Uganda and Tanzania. Its performance was compared to a tissue biopsy-based approach that used diagnostic tests accessible in limited-resource settings.
High accuracy and faster results
The blood test demonstrated strong ability to distinguish Burkitt lymphoma from other conditions, achieving an overall accuracy of 98%. Among 81 patients with a confirmed tissue-based diagnosis of Burkitt lymphoma, 86.4% were correctly identified via liquid biopsy.
Importantly, the blood test dramatically reduced the time needed to reach a diagnosis. A liquid biopsy diagnosis was 40.3 days faster on average, compared to tissue biopsy diagnosis.
To understand how the test would perform in real-world clinical practice, the team held weekly multidisciplinary team (MDT) meetings to review cases in real time.
Clara Chamba, Head of Haematology at MUHAS and study author said:
“Introducing liquid biopsy into our multidisciplinary meetings transformed how quickly we could start treating our patients. With liquid biopsy, 93% of cases were diagnosed within the first week of sample collection, compared to just 40% when we relied on tissue biopsy alone. For a cancer that progresses as quickly as Burkitt lymphoma, that time can be life-saving.”
While further work is needed to understand how to scale the test for clinical use, this study shows that liquid biopsy could serve as a complementary and timely diagnostic tool, especially where tissue biopsy access is limited or delayed. By increasing diagnostic yield and dramatically shortening time to diagnosis, this approach could help ensure that children with Burkitt lymphoma begin life-saving treatment sooner.
Prof. Bruno Sunguya, Deputy Vice Chancellor, Research and Consultancy, MUHAS, Tanzania, said:
“The successful implementation and analytical work conducted in Tanzania and Uganda demonstrates that precision medicine research can and should be led from within low- and middle-income countries. Beyond lymphoma, this work opens new opportunities to apply genomic and liquid biopsy technologies to strengthen cancer diagnosis and improve outcomes more broadly across the region. This collaboration reaffirms our commitment to advancing innovation, accelerating timely diagnosis, and improving survival for children and adults affected by cancer.”
'Liquid biopsy for the diagnosis of EBV-positive Burkitt’s lymphoma in endemic areas' is published in Nature Medicine.
This research is an output of the NIHR-funded AI-REAL (Aggressive Infection-Related East Africa Lymphoma) consortium. Find out more about AI-REAL.
