Epigenetic regulators mutated in hematologic disease
| . | Molecule . | Diseases associated . | References . |
|---|---|---|---|
| Polycomb-repressive complex | EZH2 | FL, DLBCL, T-ALL, PBML, MDS, MPN, MF, AML | 11,,,,,,,-19 |
| SUZ12 | T-ALL | 16 | |
| EED | T-ALL | 16 | |
| ASXL1 | MDS, AML, CML | 19,20 | |
| Trithorax complex | MLL1 | B-ALL, T-ALL | |
| MLL2 | FL, DLBCL | 11,13,21 | |
| MLL rearrangements | ALL, AML | 22 | |
| Histone demethylase | UTX | MM | 23 |
| JMJD2C | PMBL, HL | 24 | |
| KDM2B | DLBCL | 21 | |
| Histone acetylation | CREBBP | DLBCL, FL | 13,25 |
| EP300 | DLBCL | 25,26 | |
| Histone methylation | MMSET | MM | 27 |
| Chromatin remodeling | ARID1A | Pediatric B-CLL, CLL | 28 |
| CHD2 | B-CLL | 29 | |
| DNA modification | DNMT3A | AML, MDS, ETP-ALL, AITL, PTCL, MF, CMML, MPN | 30,,-33,35 |
| TET2 | AML, MDS, MPN, MF, DLBCL, FL, AITL, PTL | 32,36,,-39 | |
| Other | IDH1/2 | MDS, AML, ETP-ALL | 34,38,40,-42 |
| HIST1HC | DLBCL | 11 |
| . | Molecule . | Diseases associated . | References . |
|---|---|---|---|
| Polycomb-repressive complex | EZH2 | FL, DLBCL, T-ALL, PBML, MDS, MPN, MF, AML | 11,,,,,,,-19 |
| SUZ12 | T-ALL | 16 | |
| EED | T-ALL | 16 | |
| ASXL1 | MDS, AML, CML | 19,20 | |
| Trithorax complex | MLL1 | B-ALL, T-ALL | |
| MLL2 | FL, DLBCL | 11,13,21 | |
| MLL rearrangements | ALL, AML | 22 | |
| Histone demethylase | UTX | MM | 23 |
| JMJD2C | PMBL, HL | 24 | |
| KDM2B | DLBCL | 21 | |
| Histone acetylation | CREBBP | DLBCL, FL | 13,25 |
| EP300 | DLBCL | 25,26 | |
| Histone methylation | MMSET | MM | 27 |
| Chromatin remodeling | ARID1A | Pediatric B-CLL, CLL | 28 |
| CHD2 | B-CLL | 29 | |
| DNA modification | DNMT3A | AML, MDS, ETP-ALL, AITL, PTCL, MF, CMML, MPN | 30,,-33,35 |
| TET2 | AML, MDS, MPN, MF, DLBCL, FL, AITL, PTL | 32,36,,-39 | |
| Other | IDH1/2 | MDS, AML, ETP-ALL | 34,38,40,-42 |
| HIST1HC | DLBCL | 11 |
AITL, angioimmunoblastic T-cell lymphoma; B-ALL, B-cell acute lymphoid leukemia; DLBCL, diffuse lymphoblastic B-cell lymphoma; ETP-ALL, early-T-precursor acute lymphoid leukemia; FL, follicular lymphoma; HL, Hodgkin’s lymphoma; MDS, myelodysplastic syndrome; MF, myelofibrosis; MM, multiple myeloma; PBML, primary mediastinal lymphoma; PTCL, peripheral T-cell lymphoma not otherwise specified; T-ALL, T-cell acute lymphoblastic leukemia.
We highlight here the regulators known to be mutated in a high frequency of the indicated diseases–please see individual disease-specific reviews for details and references therein. Many have not yet been unequivocally shown to be causal, but their repetitive occurrence in these diseases implicates them.