Table 1 Cytogenetic categories in 179 patients with primary myelodysplastic syndromes and significantly associated mutations
Mutations | All patients (n = 179) | Normal karyotype n = 78 (44%) | Monosomal karyotype n = 22 (12%) | Sole +8 n = 14 (8%) | Sole 5q− n = 13 (7%) | Sole −7/7q− n = 6 (3%) | Sole 11q− n = 5 (3%) | Sole 20q− n = 4 (2%) | Sole +21 n = 4 (2%) | Other sole trisomies n = 5 (3%) | Sole inv(3) n = 2 (1%) | Der(1;7) n = 3 (2%) | Complex non-monosomal n = 3 (2%) | Others n = 20 (11%) | P-value |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASXL1; n (%) | 53 (30%) | 25 (32%) | 1 (5%) | 7 (50%) | 1 (8%) | 2 (33%) | 1 (20%) | 1 (25%) | 3 (75%) | 0 | 0 | 0 | 1 (33%) | 8 (40%) | 0.02 |
SF3B1; n (%) | 36 (20%) | 24 (31%) | 1 (5%) | 2 (14%) | 0 | 0 | 4 (80%) | 0 | 0 | 0 | 2 (100%) | 0 | 0 | 3 (15%) | 0.0001 |
SRSF2; n (%) | 28 (16%) | 14 (18%) | 0 | 2 (14%) | 0 | 1 (17%) | 1 (20%) | 0 | 3 (75%) | 3 (60%) | 0 | 0 | 0 | 4 (20%) | 0.006 |
U2AF1; n (%) | 28 (16%) | 9 (12%) | 1 (5%) | 3 (21%) | 0 | 4 (67%) | 0 | 2 (50%) | 0 | 2 (40%) | 0 | 0 | 2 (67%) | 5 (25%) | 0.0009 |
TP53; n (%) | 23 (13%) | 3 (4%) | 18 (82%) | 0 | 1 (8%) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 (5%) | <0.0001 |
RUNX1; n (%) | 19 (11%) | 5 (6%) | 1 (5%) | 3 (21%) | 0 | 2 (33%) | 0 | 1 (25%) | 4 (100%) | 0 | 0 | 1 (33%) | 0 | 2 (10%) | <0.0001 |
IDH1; n (%) | 5 (3%) | 2 (3%) | 0 | 0 | 0 | 2 (33%) | 0 | 0 | 0 | 1 (20%) | 0 | 0 | 0 | 0 | 0.004 |
