Table I.
EZH2 mutation description
| Case | Subtype | Monosomy 7 or del(7q) | IHC Score | EZH2 mutation | Missense/Nonsense | Previously reported | Clinical significance |
|---|---|---|---|---|---|---|---|
| 1 | AML-MRC | Yes | 0 | c.1555 + 1G>T | Missense | Yes | Yes, Significant |
| 2 | Other | No | 0·75 | c.2187_2188insT; p.D730 fs | Missense | Yes | Yes, Significant |
| 3 | Other | No | 0·15 | c.862C>T; c.1852_6C>T and c.2007C>A; p. S669R | Yes | Yes, Significant | |
| 4 | MDS/MPN | No | 2·125 | c.2196_2A>T | Yes | Yes, Significant | |
| 5 | AML-MRC | No | 0 | c.1505G>A; R502Q and c.1694G>C; C565S | Missense | Yes | Yes, Significant |
| 6 | Other | No | 0·6 | c.71T>C; p.M24T | Missense | Yes | Yes, Significant |
| 7 | AML-MRC | No | 1·5 | p.A656V | Missense | Yes | Yes, Significant |
| 8 | AML-MRC | Yes | 1·25 | c.2080C>T; p.H694Y | Missense | Yes | Yes, Significant |
| 9 | MDS/MPN | Yes | 0·1 | c.1673delG | No | Yes, Significant | |
| 10 | Other | No | 0·875 | c.490G>A; p. G164R,c.492delG and c.2187delT | No | Yes, Significant | |
| 11 | MDS-EB-I | No | 2·125 | p.R690H | Missense | Yes | Yes, Significant |
| 12 | MDS/MPN | No | 1·5 | p.R690H | Missense | Yes | Yes, Significant |
| 13 | Other | No | 0·525 | p.A685T (c.2053G>A) and p.K571E (c.1711A>G) | Missense | Yes | Yes, Significant |
| 14 | MDS/MPN | No | 1·05 | p.R690H | Missense | Yes | Yes, Significant |
| 15 | Other | Yes | 0·8 | c.2139A>G; pl713M | Missense | Yes | Probably Significant |
| 16 | MDS/MPN | No | 0·15 | p.D185H | Missense | Yes | Probably Significant |
| 17 | Other | No | 2 | D432EFS, Y741H | Missense | No | Probably Significant |
| 18 | AML-MRC | No | 1·625 | p.G663R (c.1987G>A); g.148507476C>T | Yes | Probably Significant | |
| 19 | AML-MRC | Yes | 0·27 | c.923C>G; p.P308R | Missense | No | Probably Significant |
| 20 | Other | No | 0·3 | p.D185H | 0 | Yes | Probably Significant |
| 21 | Other | No | 0·1125 | 2111-2A>G | Nonsense | Yes | Probably Significant |
| 22 | AML-MRC | No | 0·75 | p.D185H | Missense | Yes | Probably Significant |
| 23 | MDS-EB-II | No | 1 | p.D185H | Missense | Yes | Probably Significant |
| 24 | Other | No | 1 | p.D185H | Missense | Yes | Probably Significant |
| 25 | MDS-EB-I | No | 0·9 | p.D185H | Missense | Yes | Probably Significant |
| 26 | Other | No | 0·15 | p.D185H (c.553G>C) | Missense | Yes | Probably Significant |
| 27 | Other | No | 0·06 | p.Q55* (c.163C>T), | Nonsense | No | Probably Significant |
| 28 | MDS/MPN | No | 0·675 | p.N699H c.2095A>C and p.R684C c.2050C>T | Missense | Yes | Probably Significant |
| 29 | MDS/MPN | No | 1·4 | p.Q273* | Missense | Yes | Probably Significant |
| 30 | CMML | No | 0·15 | p.R313Q | Missense | Yes | Probably Significant |
| 31 | MDS/MPN | No | 0·15 | p.R690H and chr7:g148598715A>T | Missense | Yes | Probably Significant |
| 32 | Other | No | 0·3 | c.1852_6C>T | Yes | Probably not significant | |
| 33 | MDS/MPN | No | 0·45 | c.2110G>T; V704F | Missense | No | Unknown |
| 34 | Other | No | 1·5 | D730FS | Yes | Unknown | |
| 35 | AML-MRC | No | 0·075 | c.1160_1163del (p.D387Vfs*39) | Missense | No | Unknown |
| 36 | Other | No | 0·625 | p.D185H (c.553G>C) | Missense | Yes | Unknown |
| 37 | MDS/MPN | No | 0 | p.Y153* c.459T>A | No | Unknown | |
| 38 | MDS-EB-I | Yes | 0·05 | c.1547·3C>G | Unknown | ||
| 39 | MDS-EB-II | Yes | 0·7 | R882H | Unknown | ||
| 40 | Other | No | 0·8 | c.2097C>G, p.N699K | Nonsense | No | Unknown |
| 41 | Other | Yes | 0·15 | p.R33Afs*12 (c.96_97insG), | Missense | No | Unknown |
| 42 | MDS-EB-II | No | 0·1 | c.1643G>T; C548F | Missense | Yes | Unknown |
| 43 | MDS/MPN | No | 0·0125 | IVS1410 + 2T>A | No | Unknown | |
| 44 | Other | No | 0·225 | c.485·1G>C; and c.1957C>A; Q653K | No | Unknown | |
| 45 | MDS/MPN | No | 1·625 | c.2050C>T; R684C | Missense | Yes | Unknown |
| 46 | MDS-EB-II | Yes | 0·00525 | p.D193H | No | Unknown | |
| 47 | Other | No | 0 | chr7:g.148511050C>T | Yes | Unknown | |
| 48 | Other | No | 0·975 | p.Q648E and p.R502Q | Missense | Yes | Unknown |
| 49 | MDS/MPN | No | 0·01 | p.Y677H and p.F627L | Missense | No | Unknown |
| 50 | Other | Yes | 0·3 | p.D176H | Missense | Yes | Unknown |
| 51 | Other | No | 0·03 | c.293_294insT | Missense | Yes | Unknown |
| 52 | AML-MRC | Yes | 0·1875 | p.R207 | Nonsense | Yes | Unknown |
| 53 | AML-MRC | No | 1·35 | p.V674M and p.C443Y | Missense | Yes | Unknown |
| 54 | MDS/MPN | Yes | 0·1 | p.T283R | Missense | No | Unknown |
| 55 | MDS/MPN | No | 0 | c.1663del(p.C555Vfs* 123) | No | Unknown | |
| 56 | MDS-EB-I | No | 0·0875 | p.I646T (c.1937T>C), | Missense | Yes | Unknown |
| 57 | Other | No | 0·6 | p.T283M and p.V662Cfs*13 | Missense | Yes | Unknown |
| 58 | MDS/MPN | No | 0·3 | p.Y663C | No | Unknown | |
| 59 | MDS/MPN | No | 0·8 | p.S669G | No | Unknown | |
| 60 | MDS-EB-I | No | 2·25 | p.A702P | No | Unknown | |
| 61 | MDS-EB-I | No | 0·015 | p.R360Tfs*5 | No | Unknown |
AML-MRC, acute myeloid leukemia with myelodysplasia-related changes
CMML, chronic myelomonocytic leukaemia; IHC, immunohistochemistry; MDS-EB-I/II, myelodysplastic syndrome with excess blasts type I/II; MDS, myelodysplastic syndromes; MPN, myeloproliferative neoplasm; Other: MDS unclassifiable (MDS-U), MDS with multilineage dysplasia (MDS-MLD), MDS with ring sideroblasts and multilineage dysplasia (MDS-RS-MLD), MDS with single lineage dysplasia (MDS-SLD), MDS with ring sideroblasts and single lineage dysplasia (MDS-RS-SLD), therapy-related MDS (tMDS).