Clinical characteristics of AML patients with a germline RUNX1 variant
| . | Patient no. 748 . | Patient no. 124 . | Patient no. 740 . |
|---|---|---|---|
| Sex | Female | Female | Male |
| Age, y | 26 | 38 | 63 |
| Relevant medical history | Familial platelet disorder | Breast cancer | None |
| FAB | M6 | M5 | M0 |
| Cytogenetics | 46,XX | 46,XX,t(9;11)(p22;q23) | 46,XY |
| Consolidation | Allogeneic HSCT, MUD | Allogeneic HSCT, sib | Allogeneic HSCT, CB |
| Survival | Alive (67.1 mo) | Deceased (19.9 mo) | Alive (66.3 mo) |
| Relapse (DFS) | No (65.7 mo) | Yes (14.4 mo) | No (65.2 mo) |
| RUNX1 mutation | RUNX1 p.(Arg232Trp) | RUNX1 c.97+1G>A | RUNX1 c.97+1G>A |
| . | Patient no. 748 . | Patient no. 124 . | Patient no. 740 . |
|---|---|---|---|
| Sex | Female | Female | Male |
| Age, y | 26 | 38 | 63 |
| Relevant medical history | Familial platelet disorder | Breast cancer | None |
| FAB | M6 | M5 | M0 |
| Cytogenetics | 46,XX | 46,XX,t(9;11)(p22;q23) | 46,XY |
| Consolidation | Allogeneic HSCT, MUD | Allogeneic HSCT, sib | Allogeneic HSCT, CB |
| Survival | Alive (67.1 mo) | Deceased (19.9 mo) | Alive (66.3 mo) |
| Relapse (DFS) | No (65.7 mo) | Yes (14.4 mo) | No (65.2 mo) |
| RUNX1 mutation | RUNX1 p.(Arg232Trp) | RUNX1 c.97+1G>A | RUNX1 c.97+1G>A |
RUNX1 variants were annotated to RefSeq ID NM_001754.5.
CB, cord blood; DFS, disease-free survival from complete remission; FAB, French-American-British classification of AML; HSCT, hematopoietic stem cell transplantation; MUD, matched unrelated donor; OS, overall survival from diagnosis; sib, sibling.