Table 2.
Cases described of GATA2 related MDS/AML. * patients with GATA2 synonymous mutations.
| No. of Patients with GATA2 Related MDS/AML | MDS Type | Additional Cytogenetic Abnormality | Median Age at MDS Diagnosis (Range) | HSCT | Outcome | Reference |
|---|---|---|---|---|---|---|
| 3 | AML(33%) MDS (66%) |
t(1;21) (33%) | 27.7 (10–38) | 3/3 | Relapse (33%) Alive (66%) |
Mir, 2015 [25] |
| 28 | MDS-RAEB-1 (7%) MDS-RAEB-2 (4%) MDS-RCMD (89%) |
Monosomy 7 (14%) Trisomy 8 (25%) Der(1;7) (4%) |
35.4 (12–73) | n.a. | n.a. | Ganapathi [19] |
| 7 | MDS-RCMD (29%) MDS-RAEB-2 (29%) AML (43%) |
Trisomy 8 (14%) | 16.8 (13–25) | 1/7 | Alive (57%) Dead (43%) |
Churpek [42] |
| 5 | MDS n.s. (80%) MDS-RCMD (20%) |
Trisomy 8 (60%) Monosomy 7 (40%) Der(1;7) (40%) |
n.a. | 4/5 | Alive (60%) Dead (40%) |
Wang [43] |
| 5 | Marrow failure (100%) | Trisomy 8 (40%) | 16.0 (12–22) | 1/5 | n.a. | Zahng [44] |
| 57 | RCC (54%) RAEB (35%) RAEB-t (11%) |
Monosomy 7 (68%) Trisomy 8 (9%) Der(1;7) (7%) |
12.0 (3–19) | 50/57 | Died (28%) Relapse (5%) Alive (67%) |
Wlodarski [7] |
| 11 | RCC (73%) RCMD (9%) RAEB (18%) |
Monosomy 7 (73%) Trisomy 8 (18%) |
14.7 (4–21) | 9/11 | Alive (73%) Dead (27%) Relapse (9%) |
Novakova [18] |
| 5 | MDS n.s. (100%) | n.a. | 26.0 (7–60) | n.a. | n.a. | Schlums [45] |
| 5 | RCC (100%) | Monosomy 7 (80%) | 9.8 (5–15) | 5/5 | Alive (80%) Dead (20%) |
Fisher [46] |
| 11 | MDS n.s. (100%) | Trisomy 8 (45%) | 33.5 (23–53) | n.a. | n.a. | McReynolds [30] |
| 8 * | RCC (75%) RAEB (13%) MDS-MLD (13%) |
Monosomy 7 (50%) | 11.6 (3–24) | 6/8 | Alive (88%) Dead (13%) |
Kozyra [47] |
| 3 | AML (33%) MDS (66%) |
n.a. | 19.0 (13–27) | 2/3 | Alive (66%) Dead after HSCT (33%) |
Bogaert [36] |
| 1 | MDS n.s. (100%) | Monosomy 7 (50%) | 22 (19–25) | 1/2 | Alive (50%) Dead (50%) |
Fox [48] |
| 6 | AML (50%) RAEB (17%) RCC (33%) |
Monosomy 7 (100%) Trisomy 8 (17%) |
10.5 (5–15) | 6/6 | Alive (83%) Dead (17%) |
Yoshida [33] |