Recurrent gene alterations involved in the pathogenesis of primary mediastinal B-cell lymphoma
| Gene . | Pathway/function . | Frequency of alteration in PMBCL, % (primary reference) . |
|---|---|---|
| Copy number gain | ||
| REL | NF-κB pathway | 75 (45) |
| PDL1/PDL2 | Induction of T-cell exhaustion/apoptosis | 63 (10) |
| JAK2 | IL/JAK-STAT pathway/histone modification | 63 (10) |
| JMJD2C | Histone modification | 63 (61) |
| Chromosomal translocation/rearrangement | ||
| CIITA | Transcriptional regulation of HLA class II/antigen presentation | 38 (11) |
| Coding sequence mutation | ||
| SOCS1 | IL/JAK-STAT pathway | 45 (64) |
| STAT6 | IL/JAK-STAT pathway | 36 (68) |
| TNFAIP3 | NF-κB pathway | 36 (4) |
| MYC | Transcriptional regulation/chromatin remodeling | 25 (42) |
| TP53 | p53 pathway | 13 (42) |
| Promoter hypermethylation | ||
| p16/INK | Cell-cycle progression, p53 pathway | 9 (42) |
| Gene . | Pathway/function . | Frequency of alteration in PMBCL, % (primary reference) . |
|---|---|---|
| Copy number gain | ||
| REL | NF-κB pathway | 75 (45) |
| PDL1/PDL2 | Induction of T-cell exhaustion/apoptosis | 63 (10) |
| JAK2 | IL/JAK-STAT pathway/histone modification | 63 (10) |
| JMJD2C | Histone modification | 63 (61) |
| Chromosomal translocation/rearrangement | ||
| CIITA | Transcriptional regulation of HLA class II/antigen presentation | 38 (11) |
| Coding sequence mutation | ||
| SOCS1 | IL/JAK-STAT pathway | 45 (64) |
| STAT6 | IL/JAK-STAT pathway | 36 (68) |
| TNFAIP3 | NF-κB pathway | 36 (4) |
| MYC | Transcriptional regulation/chromatin remodeling | 25 (42) |
| TP53 | p53 pathway | 13 (42) |
| Promoter hypermethylation | ||
| p16/INK | Cell-cycle progression, p53 pathway | 9 (42) |