Table 3 Mutation details, EZH2 IHC score, and H3K27 trimethylation level of EZH2-mutated patients

AML patients

14

c.458 A > G, p.Tyr153Cys

Missense

Yes

14

3

90

35

c.2187dupT, p.Asp730*

Frameshift

Unknown

15

2

90

50

c.100C > T, p.Arg34*

Nonsense

Yes

44

1

50

5

c.857G > T, p.Cys286Phe

Missense

Yes

46

0

70

21

c.637delC, p.Arg213Alafs*28;

c.1036G > T, p.Glu346Ter

Frameshift

Nonsense

Unknown

Unknown

11

9

1

N/A

27^†

c.1768 T > A, p.Cys590Ser;

c.2022G > T, p.Leu674Phe

Missense

Missense

Yes

Unknown

28

63

1

N/A

59

c.2221dupT, p.Tyr741Leufs*22

Frameshift

Unknown

78

N/A

N/A

60

c.735dupA, p.Glu259*

Nonsense

Unknown

90

N/A

N/A

MDS/MPN patients

51^†

c.1306G > T, p.Glu436*

Nonsense

Unknown

7

1

70

49^†

c.998delT, p.Leu333Trpfs*16

Frameshift

Unknown

21

0

N/A

25

c.2069G > A, p.Arg690His;

c.G1650T, p.Lys550Asn

Missense

Missense

Yes

Unknown

49

28

1

40

22

c.1622G > A, p.Cys541Tyr;

c.2048C > A, p.Thr683Asn

Missense

Missense

Yes

Unknown

37

45

1

80

33

c.619C > T, p.Arg207*;

c.2051G > C, p.Arg684Pro

Nonsense

Missense

Yes

Unknown

54

36

2

40

40

c.187C > T, p.Arg63*;

c.2196-2delA

Nonsense

Splice

Yes

Unknown

50

45

2

80

10

c.73C > T, p.Arg25Ter;

c.632_635delAAAG, p.Glu211Alafs*29

Nonsense

Frameshift

Yes

Unknown

49

48

1

N/A