Mutational profiling of HIV+ diffuse large B-cell lymphoma reveals distinct mutational features with evidence of genomic instability.
1/5 보강
[BACKGROUND] People with HIV (PWH) remain underrepresented in molecular studies and clinical trials of diffuse large B-cell lymphoma (DLBCL), despite DLBCL being a leading cause of cancer-related deat
APA
Roush SM, Beck S, et al. (2026). Mutational profiling of HIV+ diffuse large B-cell lymphoma reveals distinct mutational features with evidence of genomic instability.. AIDS (London, England). https://doi.org/10.1097/QAD.0000000000004443
MLA
Roush SM, et al.. "Mutational profiling of HIV+ diffuse large B-cell lymphoma reveals distinct mutational features with evidence of genomic instability.." AIDS (London, England), 2026.
PMID
41556969 ↗
Abstract 한글 요약
[BACKGROUND] People with HIV (PWH) remain underrepresented in molecular studies and clinical trials of diffuse large B-cell lymphoma (DLBCL), despite DLBCL being a leading cause of cancer-related death in this population.
[METHODS] We performed whole-exome sequencing on 30 DLBCL tumors (24 with paired germline) from a Malawian cohort including both HIV-positive (HIV+) and HIV-negative (HIV-) individuals.
[RESULTS] KMT2D , BIRC6 , TP53 , and ARID1A were among the most frequently mutated genes. Compared to HIV- DLBCL, the HIV+ DLBCL tumors in this cohort were enriched for mutations in KMT2D , among others, and prior antiretroviral therapy associated with increased tumor mutational burden (TMB) and neoantigen load. Five HIV+ DLBCL tumors exhibited microsatellite instability (MSI), each with strong contributions from mutational signatures related to DNA repair. Furthermore, ARID1A mutations were observed in several MSI samples and in tumors with MSH2 loss. Integration with a published HIV+ DLBCL dataset revealed recurrent driver mutations including LILRB1 p.R30S, MYD88 p.S206C and p.S238N, and NRAS p.Q61K, as well as PTEN mutation as negatively prognostic.
[CONCLUSIONS] Together, these results highlight distinct tumorigenic mechanisms in HIV+ DLBCL and underscore the need for mutational profiling of HIV+ DLBCL cohorts worldwide to identify biomarkers and therapeutic targets.
[METHODS] We performed whole-exome sequencing on 30 DLBCL tumors (24 with paired germline) from a Malawian cohort including both HIV-positive (HIV+) and HIV-negative (HIV-) individuals.
[RESULTS] KMT2D , BIRC6 , TP53 , and ARID1A were among the most frequently mutated genes. Compared to HIV- DLBCL, the HIV+ DLBCL tumors in this cohort were enriched for mutations in KMT2D , among others, and prior antiretroviral therapy associated with increased tumor mutational burden (TMB) and neoantigen load. Five HIV+ DLBCL tumors exhibited microsatellite instability (MSI), each with strong contributions from mutational signatures related to DNA repair. Furthermore, ARID1A mutations were observed in several MSI samples and in tumors with MSH2 loss. Integration with a published HIV+ DLBCL dataset revealed recurrent driver mutations including LILRB1 p.R30S, MYD88 p.S206C and p.S238N, and NRAS p.Q61K, as well as PTEN mutation as negatively prognostic.
[CONCLUSIONS] Together, these results highlight distinct tumorigenic mechanisms in HIV+ DLBCL and underscore the need for mutational profiling of HIV+ DLBCL cohorts worldwide to identify biomarkers and therapeutic targets.
🏷️ 키워드 / MeSH 📖 같은 키워드 OA만
같은 제1저자의 인용 많은 논문 (1)
🏷️ 같은 키워드 · 무료전문 — 이 논문 MeSH/keyword 기반
- Suppressor of cytokine signaling (SOCS) proteins in human retroviral infections.
- Barriers to accessing cancer care services in Eastern Cape and Mpumalanga provinces of South Africa: cancer survivors' perspectives.
- Examining the Intersection between Drivers of Disparities: Social Determinants and Stress Reactivity in African American Breast Cancer Survivors.
- The Influence of Blood Brain Barrier Permeability on CSF-To-Serum Ratios of Neurobiomarkers in People With HIV.
- Infection Misdiagnosed as Lung Cancer and Retrospective Literature Analysis.
- Initial stage analysis of tislelizumab in combination with chemotherapy for patients with advanced HIV-positive non-small-cell lung cancer: a comparative clinical trial.