Table 2. Genetic aberrations reported in PCNSL, gene-related functions, type of genetic aberration, and prognosis in DLBCL.
| Gene | Genetic aberration | Function | Prognosis in DLBCL |
|---|---|---|---|
| CD79B | Mutation | BCR complex; activation of the NF-κB pathway | Worse |
| CARD11 | Mutation | BCM complex; activation of the NF-κB pathway | No association |
| MYD88 | Mutation | Activation of the NF-κB pathway | Worse |
| CDKN2A | Loss | Cell-cycle G1 control | Worse |
| ETV6 | Mutation | Required for hematopoiesis and vascular network development | Unknown |
| TNFAIP3 | Mutation | Inhibition of NF-κB activation and TNF-mediated apoptosis | No association |
| TBL1XR1 | Mutation | Transcriptional co-factor: regulates ETV6 activity | No association |
| PRDM1 | Mutation | Tumor suppressor: terminal differentiation of B-cells | No association |
| PIM1 | Mutation | Serine/threonine protein kinase involved in cell proliferation and survival | Unknown |
| TOX | Homozygous deletion | B-cell differentiation; T cell development regulation | No association |
| PD-L1 | Copy number gains at chromosome 9p24.1 | Immunocorrelation programmed death ligand | Unknown |
BCM, BCL10, CARD11 and MALT1 complex; BCR, B-cell receptor complex; DLBCL, diffuse large B-cell lymphoma; NF-κB, nuclear factor-kappa B; PCNSL, primary central nervous system lymphoma; PD-L1, programmed death ligand-1; TNF, tumor necrosis factor.