Comparison of clinical and molecular characteristics of 193 MDS patients according to SRSF2 mutation status
| Characteristic . | SRSF2 mutated (n = 24) . | SRSF2 WT (n = 169) . | P . |
|---|---|---|---|
| Age, y | .12 | ||
| Median | 69 | 65 | |
| Range | 56-83 | 36-92 | |
| Sex, n (%) | .059 | ||
| Male | 19 (79) | 100 | |
| Female | 5 (21) | 69 | |
| WHO subtype, n (%) | .86 | ||
| RA | 7 (29) | 31 (18) | |
| RARS | 2 (8) | 18 (11) | |
| del (5q) | 1 (4) | 17 (10) | |
| RCMD | 3 (13) | 18 (11) | |
| RCMD-RS | 1 (4) | 8 (5) | |
| RAEB-1 | 1 (4) | 21 (12) | |
| RAEB-2 | 5 (21) | 26 (15) | |
| MDS-U | 1 (4) | 6 (4) | |
| Missing data | 3 (13) | 24 (14) | |
| Karyotype risk, n (%) | .67 | ||
| Good | 16 (67) | 93 (55) | |
| Intermediate | 2 (8) | 18 (11) | |
| Poor | 2 (8) | 21 (12) | |
| Missing data | 4 (17) | 37 (22) | |
| BM blasts, n (%) | .35 | ||
| < 5% | 15 (62) | 93 (55) | |
| 5%-9% | 1 (4) | 23 (14) | |
| 10%-19% | 5 (21) | 25 (15) | |
| Missing data | 3 (13) | 28 (16) | |
| Hemoglobin, n (%) | .46 | ||
| < 8 g/L | 5 (21) | 30 (18) | |
| 8-10 g/L | 8 (33) | 70 (41) | |
| > 10 g/L | 8 (33) | 36 (21) | |
| Missing data | 3 (13) | 33 (20) | |
| IPSS, n (%) | .37 | ||
| Low-risk | 4 (16) | 35 (21) | |
| Intermediate-1 | 10 (42) | 47 (28) | |
| Intermediate-2 | 3 (13) | 35 (21) | |
| High | 3 (13) | 10 (6) | |
| Missing data | 4 (16) | 39 (24) | |
| Transfusion dependence, n (%) | .96 | ||
| Yes | 17 (71) | 107 (63) | |
| No | 4 (16) | 26 (16) | |
| Missing data | 3 (13) | 36 (21) | |
| Transformation into AML, n (%) | .013 | ||
| Yes | 11 (46) | 34 (20) | |
| No | 10 (41) | 98 (58) | |
| Missing data | 3 (13) | 37 (22) | |
| SF3B1 mutations, n (%) | .75 | ||
| Mutated | 4 (17) | 24 (14) | |
| WT | 20 (83) | 145 (86) | |
| Missing data | 0 (0) | 0 (0) | |
| U2AF1 mutations, n (%) | .143 | ||
| Mutated | 0 (0) | 14 (8) | |
| WT | 24 (100) | 155 (92) | |
| Missing data | 0 (0) | 0 (0) | |
| ZRSR2 mutations, n (%) | .35 | ||
| Mutated | 0 (0) | 6 (4) | |
| WT | 24 (100) | 163 (96) | |
| Missing data | 0 (0) | 0 (0) | |
| ASXL1 fs mutations, n (%) | .58 | ||
| Mutated | 6 (25) | 34 (20) | |
| WT | 18 (75) | 135 (80) | |
| Missing data | 0 (0) | 0 (0) | |
| RUNX1 mutations, n (%) | < .001 | ||
| Mutated | 7 (29) | 7 (4) | |
| WT | 17 (71) | 162 (96) | |
| Missing data | 0 (0) | 0 (0) | |
| TP53 mutations, n (%) | .7 | ||
| Mutated | 0 (0) | 4 (2) | |
| WT | 24 (100) | 164 (97) | |
| Missing data | 0 (0) | 1 (0) | |
| IDH1 mutations, n (%) | .013 | ||
| Mutated | 3 (13) | 4 (2) | |
| WT | 21 (87) | 165 (98) | |
| Missing data | 0 (0) | 0 (0) | |
| DNMT3A mutations, n (%) | .39 | ||
| Mutated | 0 (0) | 5 (3) | |
| WT | 24 (100) | 164 (97) | |
| Missing data | 0 (0) | 0 (0) | |
| NRAS mutations, n (%) | .31 | ||
| Mutated | 0 (0) | 7 (4) | |
| WT | 24 (100) | 162 (96) | |
| Missing data | 0 (0) | 0 (0) |
| Characteristic . | SRSF2 mutated (n = 24) . | SRSF2 WT (n = 169) . | P . |
|---|---|---|---|
| Age, y | .12 | ||
| Median | 69 | 65 | |
| Range | 56-83 | 36-92 | |
| Sex, n (%) | .059 | ||
| Male | 19 (79) | 100 | |
| Female | 5 (21) | 69 | |
| WHO subtype, n (%) | .86 | ||
| RA | 7 (29) | 31 (18) | |
| RARS | 2 (8) | 18 (11) | |
| del (5q) | 1 (4) | 17 (10) | |
| RCMD | 3 (13) | 18 (11) | |
| RCMD-RS | 1 (4) | 8 (5) | |
| RAEB-1 | 1 (4) | 21 (12) | |
| RAEB-2 | 5 (21) | 26 (15) | |
| MDS-U | 1 (4) | 6 (4) | |
| Missing data | 3 (13) | 24 (14) | |
| Karyotype risk, n (%) | .67 | ||
| Good | 16 (67) | 93 (55) | |
| Intermediate | 2 (8) | 18 (11) | |
| Poor | 2 (8) | 21 (12) | |
| Missing data | 4 (17) | 37 (22) | |
| BM blasts, n (%) | .35 | ||
| < 5% | 15 (62) | 93 (55) | |
| 5%-9% | 1 (4) | 23 (14) | |
| 10%-19% | 5 (21) | 25 (15) | |
| Missing data | 3 (13) | 28 (16) | |
| Hemoglobin, n (%) | .46 | ||
| < 8 g/L | 5 (21) | 30 (18) | |
| 8-10 g/L | 8 (33) | 70 (41) | |
| > 10 g/L | 8 (33) | 36 (21) | |
| Missing data | 3 (13) | 33 (20) | |
| IPSS, n (%) | .37 | ||
| Low-risk | 4 (16) | 35 (21) | |
| Intermediate-1 | 10 (42) | 47 (28) | |
| Intermediate-2 | 3 (13) | 35 (21) | |
| High | 3 (13) | 10 (6) | |
| Missing data | 4 (16) | 39 (24) | |
| Transfusion dependence, n (%) | .96 | ||
| Yes | 17 (71) | 107 (63) | |
| No | 4 (16) | 26 (16) | |
| Missing data | 3 (13) | 36 (21) | |
| Transformation into AML, n (%) | .013 | ||
| Yes | 11 (46) | 34 (20) | |
| No | 10 (41) | 98 (58) | |
| Missing data | 3 (13) | 37 (22) | |
| SF3B1 mutations, n (%) | .75 | ||
| Mutated | 4 (17) | 24 (14) | |
| WT | 20 (83) | 145 (86) | |
| Missing data | 0 (0) | 0 (0) | |
| U2AF1 mutations, n (%) | .143 | ||
| Mutated | 0 (0) | 14 (8) | |
| WT | 24 (100) | 155 (92) | |
| Missing data | 0 (0) | 0 (0) | |
| ZRSR2 mutations, n (%) | .35 | ||
| Mutated | 0 (0) | 6 (4) | |
| WT | 24 (100) | 163 (96) | |
| Missing data | 0 (0) | 0 (0) | |
| ASXL1 fs mutations, n (%) | .58 | ||
| Mutated | 6 (25) | 34 (20) | |
| WT | 18 (75) | 135 (80) | |
| Missing data | 0 (0) | 0 (0) | |
| RUNX1 mutations, n (%) | < .001 | ||
| Mutated | 7 (29) | 7 (4) | |
| WT | 17 (71) | 162 (96) | |
| Missing data | 0 (0) | 0 (0) | |
| TP53 mutations, n (%) | .7 | ||
| Mutated | 0 (0) | 4 (2) | |
| WT | 24 (100) | 164 (97) | |
| Missing data | 0 (0) | 1 (0) | |
| IDH1 mutations, n (%) | .013 | ||
| Mutated | 3 (13) | 4 (2) | |
| WT | 21 (87) | 165 (98) | |
| Missing data | 0 (0) | 0 (0) | |
| DNMT3A mutations, n (%) | .39 | ||
| Mutated | 0 (0) | 5 (3) | |
| WT | 24 (100) | 164 (97) | |
| Missing data | 0 (0) | 0 (0) | |
| NRAS mutations, n (%) | .31 | ||
| Mutated | 0 (0) | 7 (4) | |
| WT | 24 (100) | 162 (96) | |
| Missing data | 0 (0) | 0 (0) |
RA indicates refractory anemia; RARS, refractory anemia with ring sideroblasts; del(5q), MDS with isolated del(5q); RCMD, refractory cytopenia with multilineage dysplasia; RAEB-1, refractory anemia with excess blasts-1; RAEB-2, refractory anemia with excess blasts-2; MDS-U, MDS-unclassifiable; and fs, frameshift.