Table 2

Epigenetic regulators mutated in hematologic disease

MoleculeDiseases associatedReferences
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  
MoleculeDiseases associatedReferences
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.

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