Polymorphisms and overexpression of immune checkpoints PD-1, PD-L1, and CTLA-4 in DLBCL: biomarker insights from a case-control study.
[BACKGROUND] Diffuse large B-cell lymphoma (DLBCL) is a biologically heterogeneous lymphoma with variable treatment outcomes.
- p-value p = 0.018
- p-value p = 0.006
- 연구 설계 case-control
APA
Arslan Unal HS, Salim O, et al. (2026). Polymorphisms and overexpression of immune checkpoints PD-1, PD-L1, and CTLA-4 in DLBCL: biomarker insights from a case-control study.. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico. https://doi.org/10.1007/s12094-026-04283-y
MLA
Arslan Unal HS, et al.. "Polymorphisms and overexpression of immune checkpoints PD-1, PD-L1, and CTLA-4 in DLBCL: biomarker insights from a case-control study.." Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2026.
PMID
41784705
Abstract
[BACKGROUND] Diffuse large B-cell lymphoma (DLBCL) is a biologically heterogeneous lymphoma with variable treatment outcomes. Immune checkpoints are key regulators of tumor-immune interactions and important targets in cancer therapy. This study investigates the roles of PD-1, PD-L1, and CTLA-4 gene polymorphisms, along with their mRNA and protein expression, in DLBCL pathogenesis.
[METHODS] This case-control study included 20 patients with newly diagnosed DLBCL and 20 age- and sex-matched healthy controls. SNPs in PD-1 (rs2227981), PD-L1 (rs4143815), and CTLA-4 (rs231775) were genotyped. Gene expression was assessed via RT-qPCR, and protein levels on immune cells were analyzed by flow cytometry.
[RESULTS] PD-1, PD-L1, and CTLA-4 mRNA levels were significantly elevated in DLBCL patients (p = 0.018, p = 0.006, p = 0.031, respectively). These SNPs were associated with expression changes (PD-1: p = 0.009; PD-L1: p = 0.007; CTLA-4: p = 0.018). Flow cytometry showed elevated percentages of CD4⁺PD-1⁺ (p = 0.010) and CD4⁺PD-L1⁺ (p = 0.002) cells in patients. No significant clinical differences were found among DLBCL subtypes.
[CONCLUSION] These results suggest that overexpression of these checkpoints and related genetic variants may contribute to immune escape and disease progression in DLBCL. PD-1, PD-L1, and CTLA-4 may serve as potential biomarkers for prognosis and personalized therapy. Further large-scale studies are needed to confirm these findings.
[METHODS] This case-control study included 20 patients with newly diagnosed DLBCL and 20 age- and sex-matched healthy controls. SNPs in PD-1 (rs2227981), PD-L1 (rs4143815), and CTLA-4 (rs231775) were genotyped. Gene expression was assessed via RT-qPCR, and protein levels on immune cells were analyzed by flow cytometry.
[RESULTS] PD-1, PD-L1, and CTLA-4 mRNA levels were significantly elevated in DLBCL patients (p = 0.018, p = 0.006, p = 0.031, respectively). These SNPs were associated with expression changes (PD-1: p = 0.009; PD-L1: p = 0.007; CTLA-4: p = 0.018). Flow cytometry showed elevated percentages of CD4⁺PD-1⁺ (p = 0.010) and CD4⁺PD-L1⁺ (p = 0.002) cells in patients. No significant clinical differences were found among DLBCL subtypes.
[CONCLUSION] These results suggest that overexpression of these checkpoints and related genetic variants may contribute to immune escape and disease progression in DLBCL. PD-1, PD-L1, and CTLA-4 may serve as potential biomarkers for prognosis and personalized therapy. Further large-scale studies are needed to confirm these findings.