Liquid Biopsy Enables Faster Diagnosis of Childhood Cancer in Africa

Although survival can exceed 90% when therapy starts quickly, many children in sub-Saharan Africa face delays because conventional diagnostic tests require specialist expertise and equipment. Treatment is widely available and often free, yet late or missed diagnoses drive survival below 50% in many settings. A new study shows that a minimally invasive blood test can accelerate and sharpen diagnosis in these environments.

Researchers at the University of Oxford, working with Muhimbili University of Health and Allied Sciences (MUHAS) in Dar es Salaam, Tanzania, developed a liquid biopsy assay to detect Burkitt lymphoma from a simple blood sample. The findings, published in Nature Medicine on March 19, evaluated the test among children and young adults with suspected lymphoma in Uganda and Tanzania. Collaborators included the Central Public Health Laboratory in Kampala, Uganda, and four participating hospitals across the two countries.

The approach analyzes circulating tumor DNA (ctDNA) released by malignant cells into the bloodstream. By identifying genetic alterations characteristic of Burkitt lymphoma, the assay differentiates tumor-derived sequences from healthy cell DNA and from other tumor types. The method is minimally invasive and designed to support diagnosis where access to tissue biopsy is limited or delayed.

In a prospective evaluation, the team compared the blood-based assay with a tissue biopsy pathway that used tests accessible in limited‑resource settings. Cases were reviewed in real time through weekly multidisciplinary team (MDT) meetings to reflect routine clinical decision-making. The cohort comprised a large group of children and young adults presenting with clinical signs of lymphoma across four hospitals in Uganda and Tanzania.

The liquid biopsy achieved 98% overall accuracy in distinguishing Burkitt lymphoma from other conditions. Among 81 patients with a confirmed tissue‑based diagnosis of Burkitt lymphoma, 86.4% were correctly identified by the blood test. On average, a blood‑based diagnosis was delivered 40.3 days sooner than tissue biopsy results, substantially shortening the time to decision.

The investigators report that liquid biopsy could serve as a complementary, timely diagnostic tool in settings where biopsy access is constrained. They also note that this work provides an initial indication that similar approaches could support diagnosis of other cancers in sub‑Saharan Africa, while emphasizing the need for further work to understand scaling for clinical use.

"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," said Clara Chamba, Head of Haematology at MUHAS.

"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," said Professor Bruno Sunguya, Deputy Vice Chancellor, Research and Consultancy, MUHAS, Tanzania.

"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," added Professor Sunguya.