Scientific reports · 2025
Shared genomic features of HIV+ diffuse large B-cell lymphoma in two African cohorts.
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Roush Sophia M, Moodley Mishalan, Coelho Jenny, Beck Samantha, Chirwa Amon, Kasonkanji Edwards, Mponda Marriam, Mulenga Maurice, Tomoka Tamiwe, van Zijl Hanri, Hodkinson Katherine, Ismail Arshad, Mtshali Senzo, Featherston Jonathan, Gopal Satish, Painschab Matthew S, Vaughan Jenifer, Fedoriw Yuri
Аннотация
The number of people with HIV (PWH) in Africa is rising due to population growth and antiretroviral therapy (ART) availability, with diffuse large B-cell lymphoma (DLBCL) a major cause of mortality. HIV and ART alter DLBCL tumor biology, but few studies of DLBCL include PWH or African patients, limiting translation of emerging treatment strategies. Here, we performed whole exome sequencing of 48 tumors (40 HIV-positive [HIV+]) with paired germline of DLBCL patients from Malawi and South Africa. HIV + DLBCL tumors had distinct mutations depending on ART exposure, and there were several recurrent deleterious variants, with ANKRD11 mutations being prognostic. One tumor from each cohort had high tumor mutational burden and microsatellite-instability with PMS2 and ARID1A mutation. These findings suggest shared genomic characteristics among HIV + DLBCL in Africa, offering opportunities for tailored biomarkers and therapeutic targets for this underserved population.