Table 2 Classification based on 2016, 2022 World Health Organization classification and International Consensus Classification.
Classification | Total (n = 758) | Without cytogenetics abnormalities and gene mutations (n = 155/20.4%) | With gene mutations only (n = 299/39.4%) | With cytogenetics abnormalities only (n = 62/8.2%) | With cytogenetics abnormalities and gene mutations (n = 242/31.9%) | P value |
|---|---|---|---|---|---|---|
2016 WHO classification | ||||||
MDS-5q | 7 (0.9) | 0 (0.0) | 0 (0.0) | 1 (1.6) | 6 (2.5) | 0.004 |
MDS-SLD | 114 (15.0) | 60 (38.7) | 33 (11.0) | 13 (21.0) | 8 (3.3) | <0.001 |
MDS-MLD | 166 (21.9) | 65 (41.9) | 46 (15.4) | 23 (37.1) | 32 (13.2) | <0.001 |
MDS-RS-SLD | 46 (6.1) | 4 (2.6) | 31 (10.4) | 1 (1.6) | 10 (4.1) | 0.001 |
MDS-RS-MLD | 26 (3.4) | 2 (1.3) | 15 (5.0) | 1 (1.6) | 8 (3.3) | 0.194 |
MDS-EB1 | 160 (21.1) | 16 (10.3) | 68 (22.7) | 15 (24.2) | 61 (25.2) | 0.003 |
MDS-EB2 | 230 (30.3) | 6 (3.9) | 101 (33.8) | 8 (12.9) | 115 (47.5) | <0.001 |
MDS-U | 9 (1.2) | 2 (1.3) | 5 (1.7) | 0 (0.0) | 2 (0.8) | 0.759 |
ICC | ||||||
MDS | 561 (74.0) | 149 (96.1) | 210 (73.4) | 55 (88.7) | 147 (61.5) | <0.001 |
del(5q) | 5 (0.7) | 0 (0.0) | 0 (0.0) | 1 (1.6) | 4 (1.7) | 0.007 |
mutated SF3B1 | 64 (8.4) | 0 (0.0) | 49 (16.4) | 0 (0.0) | 15 (6.2) | <0.001 |
NOS, with SLD | 124 (16.4) | 66 (42.6) | 35 (11.7) | 14 (22.6) | 9 (3.7) | <0.001 |
NOS, with MLD | 169 (22.3) | 67 (43.2) | 46 (15.4) | 24 (38.7) | 32 (13.2) | <0.001 |
EB | 171 (22.6) | 16 (10.3) | 79 (26.4) | 16 (25.8) | 60 (24.8) | <0.001 |
mutated TP53 | 28 (3.7) | 0 (0.0) | 2 (0.6) | 0 (0.0) | 26 (12.0) | <0.001 |
MDS/AML | 181 (23.9) | 6 (3.9) | 76 (26.6) | 7 (11.3) | 92 (38.5) | <0.001 |
MDS-related genes mutations | 98 (12.9) | 0 (0.0) | 54 (18.1) | 0 (0.0) | 44 (18.2) | <0.001 |
MDS-related cytogenetics | 11 (1.5) | 0 (0.0) | 0 (0.0) | 5 (8.1) | 6 (2.5) | <0.001 |
mutated TP53 | 44 (5.8) | 0 (0.0) | 4 (1.3) | 0 (0.0) | 40 (16.5) | <0.001 |
NOS | 28 (3.7) | 6 (3.9) | 18 (6.0) | 2 (3.2) | 2 (0.8) | 0.008 |
AML with NPM1 | 13 (1.7) | 0 (0.0) | 11 (3.7) | 0 (0.0) | 2 (0.8) | 0.014 |
AML with CEBPA | 2 (0.3) | 0 (0.0) | 2 (0.7) | 0 (0.0) | 0 (0.0) | 0.586 |
AML with inv(3) | 1 (0.1) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 1 (0.4) | 0.606 |
2022 WHO classification | 737 | |||||
MDS-5q | 5 (0.7) | 0 (0.0) | 0 (0.0) | 1 (1.6) | 4 (1.7) | 0.008 |
MDS-SF3B1 | 82 (11.1) | 0 (0.0) | 50 (17.7) | 0 (0.0) | 18 (7.4) | <0.001 |
MDS-h | 114 (15.5) | 58 (52.3) | 25 (8.9) | 19 (30.6) | 12 (5.0) | <0.001 |
MDS-LB | 156 (21.2) | 31 (27.9) | 52 (18.4) | 19 (30.6) | 28 (11.6) | <0.001 |
MDS-IB1 | 118 (16.0) | 16 (14.4) | 51 (18.1) | 14 (22.6) | 37 (15.3) | 0.083 |
MDS-IB2 | 159 (21.6) | 5 (4.5) | 78 (27.7) | 7 (11.3) | 69 (28.5) | <0.001 |
MDS-f | 24 (3.3) | 1 (0.9) | 5 (1.8) | 1 (1.6) | 17 (7.0) | 0.001 |
MDS-biTP53 | 46 (6.2) | 0 (0.0) | 2 (0.7) | 0 (0.0) | 44 (18.2) | <0.001 |
AML with NPM1 mutation | 23 (3.1) | 0 (0.0) | 19 (6.7) | 0 (0.0) | 4 (1.7) | <0.001 |
AML with MECOM rearrangement | 1 (0.1) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 1 (0.4) | 0.617 |
AML with NUP98 rearrangement | 9 (1.2) | 0 (0.0) | 0 (0.0) | 1 (1.6) | 8 (3.3) | 0.001 |