A blood-based liquid biopsy approach may support faster and more accurate diagnosis of Epstein–Barr virus (EBV)–positive Burkitt’s lymphoma (BL), particularly in settings where access to pathology services is limited, according to a multicenter study conducted in East Africa.
BL is a common and aggressive cancer in children in sub-Saharan Africa and is closely linked to EBV infection. Diagnosis typically relies on tissue biopsy, immunohistochemistry (IHC), and genetic testing for MYC rearrangements. In many endemic regions, limited access to these methods can delay diagnosis and treatment.
The study evaluated liquid biopsy in 377 children and young adults with suspected lymphoma across hospitals in Tanzania and Uganda. Blood-based testing was compared with standard tissue-based diagnosis, which included morphology, a limited IHC panel, and specialist review.
The liquid biopsy assay analyzed circulating tumor DNA (ctDNA), including MYC mutations, MYC–immunoglobulin translocations, and EBV-related DNA features such as viral load and fragment size. These markers were combined into diagnostic models to distinguish BL from other conditions.
The best-performing model showed high diagnostic accuracy, with sensitivity of 0.86 and specificity of 0.95, and similar performance in an independent validation group. Patients with BL had higher ctDNA levels, increased MYC mutation burden, and elevated EBV DNA markers compared with non-BL cases. Turnaround time was shorter with liquid biopsy. Results were available in a median of 6.5 days compared with 46.8 days for tissue biopsy.
Liquid biopsy also increased early diagnostic availability. At the first multidisciplinary team review, it was the only result available in 42 percent of cases, and more than half of patients later confirmed to have BL were identified at this stage using blood-based testing alone.
The findings indicate that liquid biopsy may complement tissue-based methods by providing earlier diagnostic information. While tissue biopsy remains necessary for full classification, blood-based testing may help guide earlier clinical decisions, particularly where histopathology services are limited.
The study also found that combining multiple molecular markers improved diagnostic accuracy. EBV DNA levels alone were less specific, whereas integration with MYC-related and fragment-based markers improved discrimination between BL and other conditions.
Limitations include variability in diagnostic methods across sites, use of a simplified IHC panel as the reference standard, and the need for further validation in broader populations. Implementation challenges such as cost and access to sequencing infrastructure were also noted.
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