Liquid Biopsies Show Promise in Diagnosing Lymphoma in East Africa
A recent study, approved by the Oxford Tropical Research Ethics Committee (OxTREC: no. 15-19), alongside ethical approvals from the National Institute of Medical Research in Tanzania and the Uganda National Council of Science and Technology, investigated the use of liquid biopsies for diagnosing lymphoma in children and young adults in Tanzania and Uganda. The research, conducted in accordance with the Declaration of Helsinki, aimed to improve diagnostic capabilities in regions with limited resources.
The study enrolled participants aged 3 to 25 years suspected of having lymphoma, between August 2019 and July 2023, from four hospitals: Muhimbili National Hospital, Kilimanjaro Christian Medical Centre, Bugando Medical Centre, and St. Mary’s Hospital Lacor. Participants who had previously received lymphoma treatment or participated in related clinical trials were excluded.
The research involved two phases. Phase I focused on training and assessing liquid biopsy models for diagnosing EBV+ Burkitt lymphoma (BL) using histopathology. Phase II compared the speed of liquid biopsies to traditional tissue biopsies and further validated the most effective liquid biopsy model.
Both tissue and liquid biopsies were collected. Tissue biopsies were obtained through surgical excision and processed in local pathology laboratories following a year-long training program for staff and pathologists, including competency assessments and the implementation of quality control procedures. Liquid biopsies were collected via blood samples and processed for circulating cell-free DNA (cfDNA) analysis.
Laboratory procedures included cfDNA extraction, library preparation, targeted sequencing, and variant calling. A custom-designed next-generation sequencing (NGS) panel targeted mutational hotspots in 17 genes related to lymphoma and Epstein-Barr virus (EBV) genes.
The study utilized a three-phase scoring system for gold-standard pathology, initially employing immunostains BCL2, CD10, and CD20 to support BL diagnosis, aligning with World Health Organization standards and suitability for resource-constrained settings. Digital whole-slide imaging was introduced to allow review by multiple pathologists.
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