Skip to main content

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

From: Integrative study of EZH2 mutational status, copy number, protein expression and H3K27 trimethylation in AML/MDS patients

Patient # EZH2 mutation Mutation type Clinical significance VAF (%) EZH2 IHC score H3K27me3 level (%)
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
  1. IHC immunohistochemistry, N/A not assessed, VAF variant allele frequency
  2. Patient with monosomy 7 or del(7q)