Additional germline and somatic genetic characteristics of germline RUNX1 carriers
| Family . | ID . | Germline variant NP_001745.2 (RUNX1c) . | Sample sequenced (age, y) . | Cytogenetics . | Other germline variants . | Somatic variants . |
|---|---|---|---|---|---|---|
| 1 | II-2 | del P1 ex1-2 | Preleukemic | — | — | — |
| 1 | III-2 | del P1 ex1-2 | MDS (21) | — | JAK2 46/1 negative (rs12340895 CC) | PHF6 (p.R275*), SH2B3 (p.K278fs), JAK2 (p.V617F), TET2 (p.N549K) |
| 2 | II-1 | p.E20-G170del | MDS (65) | Normal | — | U2AF1 (p.Q157R) |
| 3 | III-3 | p.L112Cfs*9 | MDS (49) | Trisomy 21 | — | RUNX1 (p.P203R), MEIS1 (p.E164K), TRA deletion |
| 4 | II-1 | p.R169I | Preleukemic (43) | — | — | |
| 4 | II-3 | p.R169I | AML (45) | Normal | ASXL1 (p.E1102D) | RUNX1 (p.R166G) |
| 4 | II-4 | p.R169I | AML (38) | Normal | ASXL1 (p.E1102D) | — |
| 4 | II-5 | p.R169I | Preleukemic (37) | — | GATA2 (p.P161A) | — |
| 5 | II-2 | p.D198V | MPN (62) | — | CEBPA (p.H195_P196dup) JAK2 46/1 positive (rs12340895 GG) | JAK2 (p.V617F), DNMT3A (p.R365Q) |
| 5 | III-2 | p.D198V | Preleukemic | — | — | U2AF1 (p.T41M) |
| 7 | III-1 | p.R204Q | AML(24) | Normal | — | NRAS (p.Q61R) |
| 7 | III-2 | p.R204Q | AML (28) | Trisomy 6 | — | RUNX1 (p.R204Q) CN-LOH, FLT3-ITD, BCOR (p.K1360fs), BCORL1 (p.F1060fs) |
| 8 | II-1 | p.R320* | MDS (58) | der(1;7)(q10;p10) | IDH1 (p.Y183C) | RUNX1 (p.C108R) |
| 8 | III-1 | p.R320* | Preleukemic (34, 35) | Normal | — | — |
| 9 | IV-1 | p.R320* | MDS (54) | Monosomy 7 | CEBPA (p.H195_P196dup) | RUNX1 (p.V164D), EZH2 (p.F145V) |
| 9 | V-5 | p.R320* | Remission (32) | — | — | — |
| 10 | II-2 | p.A324Lfs*7 | tMDS (32) | 46,XY,del(20)(q11.2q13.1)/47, indem,+1,del(1)(p32) | — | KRAS (G12D) |
| Family . | ID . | Germline variant NP_001745.2 (RUNX1c) . | Sample sequenced (age, y) . | Cytogenetics . | Other germline variants . | Somatic variants . |
|---|---|---|---|---|---|---|
| 1 | II-2 | del P1 ex1-2 | Preleukemic | — | — | — |
| 1 | III-2 | del P1 ex1-2 | MDS (21) | — | JAK2 46/1 negative (rs12340895 CC) | PHF6 (p.R275*), SH2B3 (p.K278fs), JAK2 (p.V617F), TET2 (p.N549K) |
| 2 | II-1 | p.E20-G170del | MDS (65) | Normal | — | U2AF1 (p.Q157R) |
| 3 | III-3 | p.L112Cfs*9 | MDS (49) | Trisomy 21 | — | RUNX1 (p.P203R), MEIS1 (p.E164K), TRA deletion |
| 4 | II-1 | p.R169I | Preleukemic (43) | — | — | |
| 4 | II-3 | p.R169I | AML (45) | Normal | ASXL1 (p.E1102D) | RUNX1 (p.R166G) |
| 4 | II-4 | p.R169I | AML (38) | Normal | ASXL1 (p.E1102D) | — |
| 4 | II-5 | p.R169I | Preleukemic (37) | — | GATA2 (p.P161A) | — |
| 5 | II-2 | p.D198V | MPN (62) | — | CEBPA (p.H195_P196dup) JAK2 46/1 positive (rs12340895 GG) | JAK2 (p.V617F), DNMT3A (p.R365Q) |
| 5 | III-2 | p.D198V | Preleukemic | — | — | U2AF1 (p.T41M) |
| 7 | III-1 | p.R204Q | AML(24) | Normal | — | NRAS (p.Q61R) |
| 7 | III-2 | p.R204Q | AML (28) | Trisomy 6 | — | RUNX1 (p.R204Q) CN-LOH, FLT3-ITD, BCOR (p.K1360fs), BCORL1 (p.F1060fs) |
| 8 | II-1 | p.R320* | MDS (58) | der(1;7)(q10;p10) | IDH1 (p.Y183C) | RUNX1 (p.C108R) |
| 8 | III-1 | p.R320* | Preleukemic (34, 35) | Normal | — | — |
| 9 | IV-1 | p.R320* | MDS (54) | Monosomy 7 | CEBPA (p.H195_P196dup) | RUNX1 (p.V164D), EZH2 (p.F145V) |
| 9 | V-5 | p.R320* | Remission (32) | — | — | — |
| 10 | II-2 | p.A324Lfs*7 | tMDS (32) | 46,XY,del(20)(q11.2q13.1)/47, indem,+1,del(1)(p32) | — | KRAS (G12D) |