Clinical characteristics of 221 MDS patients according to SF3B1, SRSF2, ZRSR2, and U2AF35 mutation status
| Characteristic . | All . | SF3B1 mut (n = 37) . | SF3B1 wt (n = 184) . | P . | SRSF2 mut (n = 25) . | SRSF2 wt (n = 196) . | P . | ZRSR2 mut (n = 25) . | ZRSR2 wt (n = 196) . | P . | U2AF35 mut (n = 12) . | U2AF35 wt (n = 209) . | P . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Age, y | 217 | .17 | .25 | .7 | .71 | ||||||||
| Median | 71.9 | 73 | 71 | 70 | 72 | 71.9 | 71.9 | 73.5 | 71.9 | ||||
| Range | 51-95 | 35-95 | 49-87.8 | 35-95 | 57.9-95 | 35-95 | 56-88 | 35-95 | |||||
| Sex | 221 | .88 | 0.86 | < .001 | .016 | ||||||||
| Male, no. (%) | 129 | 22 (59) | 107 (58) | 15 (60) | 114 (58) | 24 (96) | 105 (54) | 11 (92) | 118 (56) | ||||
| WHO subtype | 221 | < .001 | .19 | .048 | .48 | .48 | |||||||
| RA, no. (%) | 34 | 2 (5) | 32 (17) | 2 (8) | 32 (17) | 1 (4) | 33 (17) | 4 (33) | 30 (14) | ||||
| RARS, no. (%) | 27 | 20 (54) | 7 (4) | 1 (4) | 26 (13) | 0 (0) | 27 (14) | 1 (8) | 26 (13) | ||||
| RCMD, no. (%) | 31 | 0 (0) | 31 (17) | 3 (12) | 28 (14) | 3 (12) | 28 (14) | 1 (8) | 30 (14) | ||||
| RCMD-RS, no. (%) | 8 | 6 (16) | 2 (1) | 0 (0) | 8 (4) | 0 (0) | 8 (4) | 1 (8) | 7 (3) | ||||
| RAEB-1, no. (%) | 55 | 1 (3) | 54 (29) | 12 (48) | 43 (22) | 11 (44) | 44 (23) | 1 (8) | 54 (26) | ||||
| RAEB-2, no. (%) | 45 | 3 (8) | 42 (23) | 6 (24) | 39 (20) | 9 (36) | 36 (18) | 4 (33) | 41 (20) | ||||
| 5q− syndrome, no. (%) | 2 | 0 (0) | 2 (1) | 0 (0) | 2 (1) | 0 (0) | 2 (1) | 0 (0) | 2 (1) | ||||
| RARS-T, no. (%) | 6 | 5 (14) | 1 (1) | 0 (0) | 6 (3) | 0 (0) | 6 (3) | 0 (0) | 6 (3) | ||||
| MDS-U, no. (%) | 13 | 0 (0) | 13 (7) | 1 (4) | 12 (6) | 1 (4) | 12 (6) | 0 (0) | 13 (6) | ||||
| RSs | < .001 | .047 | .011 | .86 | |||||||||
| Present, no. (%) | 41 | 31 (84) | 10 (5) | 1 (4) | 40 (20) | 0 (0) | 41 (21) | 2 (17) | 39 (19) | ||||
| Karyotype risk | 213 | .71 | .21 | .25 | .99 | ||||||||
| Low, no. (%) | 155 | 28 (76) | 128 (70) | 15 (60) | 141 (72) | 20 (80) | 136 (69) | 9 (75) | 147 (70) | ||||
| Intermediate, no. (%) | 38 | 7 (19) | 31 (17) | 7 (28) | 31 (16) | 5 (20) | 33 (17) | 2 (17) | 36 (17) | ||||
| High, no. (%) | 19 | 2 (5) | 17 (9) | 1 (4) | 18 (9) | 0 (0) | 19 (10) | 1 (8) | 18 (9) | ||||
| Bone marrow blasts | 217 | < .001 | .022 | .011 | .77 | ||||||||
| Median, % | 4 | 2 | 5 | 5 | 4 | 6.5 | 4 | 3 | 4 | ||||
| Range, % | 1-19 | 0-19 | 1-18 | 0-19 | 1-18 | 0-19 | 1-16 | 0-19 | |||||
| Hemoglobin | 211 | < .001 | .13 | .7 | .54 | ||||||||
| Median, g/dL | 9.8 | 9 | 10.1 | 10.9 | 9.8 | 9.4 | 9.9 | 10.1 | 9.8 | ||||
| Range, g/dL | 6-11.8 | 6-15 | 7.1-15 | 6-15 | 7.7-15 | 6-15 | 7.5-14.5 | 6-15 | |||||
| WBC count | 207 | .001 | .046 | .008 | .44 | ||||||||
| Median, × 109/L | 4.2 | 6.1 | 4 | 3.2 | 4.3 | 2.9 | 4.3 | 5.2 | 4.2 | ||||
| Range, × 109/L | 1.8-36.7 | 0.9-18.4 | 1.2-13 | 0.9-36.7 | 0.9-6.8 | 1.2-36.7 | 1.8-8.5 | 0.9-36.7 | |||||
| Neutrophil count | 205 | .001 | .006 | .009 | .31 | ||||||||
| Median, × 109/L | 2.1 | 3.4 | 1.9 | 1.1 | 2.3 | 1.1 | 2.2 | 2.8 | 2.1 | ||||
| Range, × 109/L | 0.7-23.1 | 0.3-15.8 | 0.3-9.7 | 0.3-23.1 | 0.3-4.9 | 0.3-23.1 | 0.5-6.5 | 0.3-23.1 | |||||
| Platelet count | 212 | < .001 | < .001 | .4 | .47 | ||||||||
| Median, × 109/L | 156 | 271 | 141 | 88 | 165.5 | 149 | 157.5 | 134.5 | 156 | ||||
| Range, × 109/L | 23-1398 | 5-714 | 6-359 | 5-1398 | 48-290 | 5-1398 | 32-500 | 5-1398 | |||||
| IPSS, no. | 216 | .036 | .042 | .017 | .07 | ||||||||
| Low risk, % | 74 | 19 (51) | 55 (30) | 3 (12) | 71 (36) | 3 (12) | 71 (36) | 5 (42) | 69 (33) | ||||
| Intermediate-1, % | 91 | 15 (41) | 76 (41) | 11 (44) | 80 (41) | 16 (64) | 74 (38) | 2 (17) | 89 (43) | ||||
| Intermediate-2, % | 26 | 1 (3) | 25 (13) | 6 (24) | 20 (10) | 5 (20) | 21 (11) | 4 (33) | 22 (11) | ||||
| High, % | 25 | 2 (5) | 23 (13) | 4 (16) | 21 (11) | 1 (4) | 24 (12) | 1 (8) | 24 (11) | ||||
| Cytology | |||||||||||||
| Multilineage dysplasia, no. (%) | 115/204 | 14 (41) | 101 (59) | .050 | 17 (71) | 98 (54) | .13 | 21 (84) | 94 (53) | .003 | 5 (45) | 110 (57) | .45 |
| Dyserythropoiesis, no. (%) | 137/197 | 30 (94) | 107 (65) | .001 | 16 (70) | 121 (70) | 1 | 17 (68) | 120 (69) | .63 | 8 (73) | 129 (69) | .81 |
| Dysgranulopoiesis, no. (%) | 140/201 | 15 (47) | 125 (74) | .002 | 23 (92) | 117 (66) | .009 | 22 (88) | 118 (67) | .033 | 7 (64) | 133 (70) | .66 |
| Dysmegakayopoiesis, no. (%) | 131/200 | 14 (44) | 114 (68) | .008 | 21 (84) | 110 (63) | .038 | 20 (80) | 108 (62) | .038 | 7 (64) | 121 (64) | .96 |
| Transfusion dependence | 193 | .024 | .036 | .38 | .27 | ||||||||
| Yes, no. (%) | 91 | 22 (59) | 69 (38) | 5 (20) | 86 (44) | 8 (32) | 83 (42) | 3 (25) | 88 (42) |
| Characteristic . | All . | SF3B1 mut (n = 37) . | SF3B1 wt (n = 184) . | P . | SRSF2 mut (n = 25) . | SRSF2 wt (n = 196) . | P . | ZRSR2 mut (n = 25) . | ZRSR2 wt (n = 196) . | P . | U2AF35 mut (n = 12) . | U2AF35 wt (n = 209) . | P . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Age, y | 217 | .17 | .25 | .7 | .71 | ||||||||
| Median | 71.9 | 73 | 71 | 70 | 72 | 71.9 | 71.9 | 73.5 | 71.9 | ||||
| Range | 51-95 | 35-95 | 49-87.8 | 35-95 | 57.9-95 | 35-95 | 56-88 | 35-95 | |||||
| Sex | 221 | .88 | 0.86 | < .001 | .016 | ||||||||
| Male, no. (%) | 129 | 22 (59) | 107 (58) | 15 (60) | 114 (58) | 24 (96) | 105 (54) | 11 (92) | 118 (56) | ||||
| WHO subtype | 221 | < .001 | .19 | .048 | .48 | .48 | |||||||
| RA, no. (%) | 34 | 2 (5) | 32 (17) | 2 (8) | 32 (17) | 1 (4) | 33 (17) | 4 (33) | 30 (14) | ||||
| RARS, no. (%) | 27 | 20 (54) | 7 (4) | 1 (4) | 26 (13) | 0 (0) | 27 (14) | 1 (8) | 26 (13) | ||||
| RCMD, no. (%) | 31 | 0 (0) | 31 (17) | 3 (12) | 28 (14) | 3 (12) | 28 (14) | 1 (8) | 30 (14) | ||||
| RCMD-RS, no. (%) | 8 | 6 (16) | 2 (1) | 0 (0) | 8 (4) | 0 (0) | 8 (4) | 1 (8) | 7 (3) | ||||
| RAEB-1, no. (%) | 55 | 1 (3) | 54 (29) | 12 (48) | 43 (22) | 11 (44) | 44 (23) | 1 (8) | 54 (26) | ||||
| RAEB-2, no. (%) | 45 | 3 (8) | 42 (23) | 6 (24) | 39 (20) | 9 (36) | 36 (18) | 4 (33) | 41 (20) | ||||
| 5q− syndrome, no. (%) | 2 | 0 (0) | 2 (1) | 0 (0) | 2 (1) | 0 (0) | 2 (1) | 0 (0) | 2 (1) | ||||
| RARS-T, no. (%) | 6 | 5 (14) | 1 (1) | 0 (0) | 6 (3) | 0 (0) | 6 (3) | 0 (0) | 6 (3) | ||||
| MDS-U, no. (%) | 13 | 0 (0) | 13 (7) | 1 (4) | 12 (6) | 1 (4) | 12 (6) | 0 (0) | 13 (6) | ||||
| RSs | < .001 | .047 | .011 | .86 | |||||||||
| Present, no. (%) | 41 | 31 (84) | 10 (5) | 1 (4) | 40 (20) | 0 (0) | 41 (21) | 2 (17) | 39 (19) | ||||
| Karyotype risk | 213 | .71 | .21 | .25 | .99 | ||||||||
| Low, no. (%) | 155 | 28 (76) | 128 (70) | 15 (60) | 141 (72) | 20 (80) | 136 (69) | 9 (75) | 147 (70) | ||||
| Intermediate, no. (%) | 38 | 7 (19) | 31 (17) | 7 (28) | 31 (16) | 5 (20) | 33 (17) | 2 (17) | 36 (17) | ||||
| High, no. (%) | 19 | 2 (5) | 17 (9) | 1 (4) | 18 (9) | 0 (0) | 19 (10) | 1 (8) | 18 (9) | ||||
| Bone marrow blasts | 217 | < .001 | .022 | .011 | .77 | ||||||||
| Median, % | 4 | 2 | 5 | 5 | 4 | 6.5 | 4 | 3 | 4 | ||||
| Range, % | 1-19 | 0-19 | 1-18 | 0-19 | 1-18 | 0-19 | 1-16 | 0-19 | |||||
| Hemoglobin | 211 | < .001 | .13 | .7 | .54 | ||||||||
| Median, g/dL | 9.8 | 9 | 10.1 | 10.9 | 9.8 | 9.4 | 9.9 | 10.1 | 9.8 | ||||
| Range, g/dL | 6-11.8 | 6-15 | 7.1-15 | 6-15 | 7.7-15 | 6-15 | 7.5-14.5 | 6-15 | |||||
| WBC count | 207 | .001 | .046 | .008 | .44 | ||||||||
| Median, × 109/L | 4.2 | 6.1 | 4 | 3.2 | 4.3 | 2.9 | 4.3 | 5.2 | 4.2 | ||||
| Range, × 109/L | 1.8-36.7 | 0.9-18.4 | 1.2-13 | 0.9-36.7 | 0.9-6.8 | 1.2-36.7 | 1.8-8.5 | 0.9-36.7 | |||||
| Neutrophil count | 205 | .001 | .006 | .009 | .31 | ||||||||
| Median, × 109/L | 2.1 | 3.4 | 1.9 | 1.1 | 2.3 | 1.1 | 2.2 | 2.8 | 2.1 | ||||
| Range, × 109/L | 0.7-23.1 | 0.3-15.8 | 0.3-9.7 | 0.3-23.1 | 0.3-4.9 | 0.3-23.1 | 0.5-6.5 | 0.3-23.1 | |||||
| Platelet count | 212 | < .001 | < .001 | .4 | .47 | ||||||||
| Median, × 109/L | 156 | 271 | 141 | 88 | 165.5 | 149 | 157.5 | 134.5 | 156 | ||||
| Range, × 109/L | 23-1398 | 5-714 | 6-359 | 5-1398 | 48-290 | 5-1398 | 32-500 | 5-1398 | |||||
| IPSS, no. | 216 | .036 | .042 | .017 | .07 | ||||||||
| Low risk, % | 74 | 19 (51) | 55 (30) | 3 (12) | 71 (36) | 3 (12) | 71 (36) | 5 (42) | 69 (33) | ||||
| Intermediate-1, % | 91 | 15 (41) | 76 (41) | 11 (44) | 80 (41) | 16 (64) | 74 (38) | 2 (17) | 89 (43) | ||||
| Intermediate-2, % | 26 | 1 (3) | 25 (13) | 6 (24) | 20 (10) | 5 (20) | 21 (11) | 4 (33) | 22 (11) | ||||
| High, % | 25 | 2 (5) | 23 (13) | 4 (16) | 21 (11) | 1 (4) | 24 (12) | 1 (8) | 24 (11) | ||||
| Cytology | |||||||||||||
| Multilineage dysplasia, no. (%) | 115/204 | 14 (41) | 101 (59) | .050 | 17 (71) | 98 (54) | .13 | 21 (84) | 94 (53) | .003 | 5 (45) | 110 (57) | .45 |
| Dyserythropoiesis, no. (%) | 137/197 | 30 (94) | 107 (65) | .001 | 16 (70) | 121 (70) | 1 | 17 (68) | 120 (69) | .63 | 8 (73) | 129 (69) | .81 |
| Dysgranulopoiesis, no. (%) | 140/201 | 15 (47) | 125 (74) | .002 | 23 (92) | 117 (66) | .009 | 22 (88) | 118 (67) | .033 | 7 (64) | 133 (70) | .66 |
| Dysmegakayopoiesis, no. (%) | 131/200 | 14 (44) | 114 (68) | .008 | 21 (84) | 110 (63) | .038 | 20 (80) | 108 (62) | .038 | 7 (64) | 121 (64) | .96 |
| Transfusion dependence | 193 | .024 | .036 | .38 | .27 | ||||||||
| Yes, no. (%) | 91 | 22 (59) | 69 (38) | 5 (20) | 86 (44) | 8 (32) | 83 (42) | 3 (25) | 88 (42) |