Recurrent gene mutations in both primary and relapse tumor samples from patients with mature lymphoid malignancies reported in the literature
| Gene . | Chromosome . | Protein function . | Lymphoid histologies . | Material . | No. of studies . | Reference . |
|---|---|---|---|---|---|---|
| TP53 | 17 | DNA-damage pathway | DLBCL, MCL, FL, CLL | PRT | 9 | 26, 27, 87, 115,,,,-120 |
| KMT2D (MLL2) | 12 | Chromatin regulation | DLBCL, MCL, tFL, FL | PRT | 8 | 25, 26, 28, 86,,,-90 |
| CREBBP | 16 | Chromatin regulation | DLBCL, tFL, FL | PRT | 7 | 25,-27, 86, 87, 89, 90 |
| MEF2B | 19 | Chromatin regulation | DLBCL, tFL, MCL | PRT | 6 | 25,-27, 87,-89 |
| BCL2 | 18 | Apoptosis pathway | DLBCL, tFL, FL | PRT | 6 | 26, 27, 87, 89, 90, 121 |
| EZH2 | 7 | Chromatin regulation | DLBCL, tFL, FL | PRT | 6 | 17, 18, 87, 89, 90, 122 |
| CARD11 | 7 | NF-κB pathway | DLBCL, FL, MCL | PRT | 5 | 25,-27, 87, 88 |
| MYD88 | 3 | NF-κB pathway | DLBCL, tFL, CLL | PRT | 4 | 26, 27, 87, 119 |
| ARID1A | 1 | Chromatin regulation | DLBCL, tFL, FL | PRT | 4 | 26, 87, 89, 122 |
| TNFAIP3 | 6 | NF-κB pathway | FL, tFL, DLBCL | PRT | 4 | 25,-27, 90 |
| B2M | 12 | MHC class 1/immunology | DLBCL, FL, MCL | PRT | 3 | 26, 87, 90 |
| EP300 | 22 | Chromatin regulation | DLBCL, FL | PRT | 6 | 25,,-28, 90, 122 |
| CD79B | 17 | BCR signaling pathway | DLBCL, tFL | PRT | 4 | 25, 27, 87, 89 |
| NOTCH1 | 9 | NOTCH pathway | CLL, tFL | PRT | 4 | 26, 119, 121, 123 |
| HIST1H1 | 6 | Apoptosis pathway | tFL, FL | PRT | 4 | 25, 26, 89, 122 |
| NFKBIE | 6 | NF-κB pathway | DLBCL, CLL | PRT | 3 | 87, 119, 124 |
| STAT6 | 12 | JAK-STAT pathway | DLBCL, tFL | PRT | 3 | 25, 26, 87 |
| TNF(R)SF14 | 1 | BCR signaling pathway | DLBCL, tFL | PRT | 3 | 25, 26, 87 |
| GNA13 | 17 | Apoptosis pathway | DLBCL, tFL | PRT | 3 | 26, 27, 89 |
| ATM | 11 | DNA-damage pathway | MCL, CLL | PRT | 3 | 88, 119, 120 |
| FAS | 10 | BCR signaling pathway | DLBCL, tFL | PRT | 2 | 87, 90 |
| FOXO1 | 13 | BCR signaling pathway | DLBCL, tFL | PRT | 2 | 26, 87 |
| MGA | 15 | Suppressor of MYC pathway | tFL, CLL | PRT | 2 | 89, 118 |
| PIM1 | 6 | Apoptosis pathway | DLBCL, FL | PRT | 2 | 26, 27 |
| SF3B1 | 2 | DNA-damage pathway | CLL | PRT | 4 | 118,-120, 125 |
| EBF1 | 5 | BCR signaling pathway | tFL | PRT | 2 | 25, 26 |
| IRF8 | 16 | Interferon signaling | tFL | PRT | 2 | 26, 89 |
| RRAGC | 1 | mTORC signaling | tFL | PRT | 2 | 89, 126 |
| SOCS1 | 16 | JAK-STAT pathway | tFL | PRT | 2 | 25, 26 |
| Gene . | Chromosome . | Protein function . | Lymphoid histologies . | Material . | No. of studies . | Reference . |
|---|---|---|---|---|---|---|
| TP53 | 17 | DNA-damage pathway | DLBCL, MCL, FL, CLL | PRT | 9 | 26, 27, 87, 115,,,,-120 |
| KMT2D (MLL2) | 12 | Chromatin regulation | DLBCL, MCL, tFL, FL | PRT | 8 | 25, 26, 28, 86,,,-90 |
| CREBBP | 16 | Chromatin regulation | DLBCL, tFL, FL | PRT | 7 | 25,-27, 86, 87, 89, 90 |
| MEF2B | 19 | Chromatin regulation | DLBCL, tFL, MCL | PRT | 6 | 25,-27, 87,-89 |
| BCL2 | 18 | Apoptosis pathway | DLBCL, tFL, FL | PRT | 6 | 26, 27, 87, 89, 90, 121 |
| EZH2 | 7 | Chromatin regulation | DLBCL, tFL, FL | PRT | 6 | 17, 18, 87, 89, 90, 122 |
| CARD11 | 7 | NF-κB pathway | DLBCL, FL, MCL | PRT | 5 | 25,-27, 87, 88 |
| MYD88 | 3 | NF-κB pathway | DLBCL, tFL, CLL | PRT | 4 | 26, 27, 87, 119 |
| ARID1A | 1 | Chromatin regulation | DLBCL, tFL, FL | PRT | 4 | 26, 87, 89, 122 |
| TNFAIP3 | 6 | NF-κB pathway | FL, tFL, DLBCL | PRT | 4 | 25,-27, 90 |
| B2M | 12 | MHC class 1/immunology | DLBCL, FL, MCL | PRT | 3 | 26, 87, 90 |
| EP300 | 22 | Chromatin regulation | DLBCL, FL | PRT | 6 | 25,,-28, 90, 122 |
| CD79B | 17 | BCR signaling pathway | DLBCL, tFL | PRT | 4 | 25, 27, 87, 89 |
| NOTCH1 | 9 | NOTCH pathway | CLL, tFL | PRT | 4 | 26, 119, 121, 123 |
| HIST1H1 | 6 | Apoptosis pathway | tFL, FL | PRT | 4 | 25, 26, 89, 122 |
| NFKBIE | 6 | NF-κB pathway | DLBCL, CLL | PRT | 3 | 87, 119, 124 |
| STAT6 | 12 | JAK-STAT pathway | DLBCL, tFL | PRT | 3 | 25, 26, 87 |
| TNF(R)SF14 | 1 | BCR signaling pathway | DLBCL, tFL | PRT | 3 | 25, 26, 87 |
| GNA13 | 17 | Apoptosis pathway | DLBCL, tFL | PRT | 3 | 26, 27, 89 |
| ATM | 11 | DNA-damage pathway | MCL, CLL | PRT | 3 | 88, 119, 120 |
| FAS | 10 | BCR signaling pathway | DLBCL, tFL | PRT | 2 | 87, 90 |
| FOXO1 | 13 | BCR signaling pathway | DLBCL, tFL | PRT | 2 | 26, 87 |
| MGA | 15 | Suppressor of MYC pathway | tFL, CLL | PRT | 2 | 89, 118 |
| PIM1 | 6 | Apoptosis pathway | DLBCL, FL | PRT | 2 | 26, 27 |
| SF3B1 | 2 | DNA-damage pathway | CLL | PRT | 4 | 118,-120, 125 |
| EBF1 | 5 | BCR signaling pathway | tFL | PRT | 2 | 25, 26 |
| IRF8 | 16 | Interferon signaling | tFL | PRT | 2 | 26, 89 |
| RRAGC | 1 | mTORC signaling | tFL | PRT | 2 | 89, 126 |
| SOCS1 | 16 | JAK-STAT pathway | tFL | PRT | 2 | 25, 26 |
Mutations are ranked after the following criteria: (1) number of studies identifying mutations in the gene and (2) number of histologies in which the mutation has been reported. Mutations were included if variant allele frequency was >5% at diagnosis/relapse, recurrent in the same patient, and identified by at least 2 independent studies.
MHC, major histocompatibility complex; PRT, primary and relapse tumors; tFL, transformed FL.