Clinical characteristics of 222 MDS patients of the French cohort according to BCOR and BCORL1 mutation status
| Characteristic . | BCOR mutated (n = 11) . | BCOR wild-type (n =211) . | P . | BCORL1 mutated (n = 2) . | BCORL1 wild-type (n = 220) . |
|---|---|---|---|---|---|
| Age, y | .92 | ||||
| Median | 72.5 | 72 | 69 | 88 | |
| Range | 57-95 | 42-95 | |||
| Sex | .53 | ||||
| Male, no. (%) | 5 (45) | 125 (59) | 1 (50) | 129 (58) | |
| Female, no. (%) | 6 (55) | 86 (41) | 1 (50) | 91 (42) | |
| WHO subtype | .81 | ||||
| RA, no. (%) | 0 (0) | 34 (16) | 0 (0) | 34 (15) | |
| RARS, no. (%) | 2 (18) | 25 (12) | 2 (100) | 25 (11) | |
| RCMD, no. (%) | 1 (9) | 30 (14) | 0 (0) | 31 (14) | |
| RCMD-RS, no. (%) | 1 (9) | 7 (3) | 0 (0) | 8 (4) | |
| RAEB-1, no. (%) | 4 (36) | 52 (25) | 0 (0) | 56 (25) | |
| RAEB-2, no. (%) | 2 (18) | 43 (20) | 0 (0) | 45 (20) | |
| del (5q), no. (%) | 0 (0) | 2 (1) | 0 (0) | 2 (1) | |
| RARS-T, no. (%) | 0 (0) | 6 (3) | 0 (0) | 6 (3) | |
| MDS-U, (%) | 1 (9) | 12 (6) | 0 (0) | 13 (6) | |
| Missing data, no. (%) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | |
| Ring sideroblasts | .4 | ||||
| Present, no. (%) | 3 (30) | 38 (18) | 2 (100) | 39 (18) | |
| Karyotype risk* | .45 | ||||
| Low, no. (%) | 9 (81) | 150 (72) | 1 (50) | 158 (72) | |
| Intermediate, no. (%) | 1 (9) | 36 (17) | 1 (50) | 36 (17) | |
| High, no. (%) | 0(0) | 19 (9) | 0 (0) | 19 (9) | |
| Missing data, no. (%) | 1 (9) | 5 (2) | 0 (0) | 7 (3) | |
| Bone marrow blasts | .95 | ||||
| Median (%) | 2.5 | 4 | 1.5 | 6 | |
| Range | 1-19 | 0-19 | |||
| Normal karyotype | .75 | ||||
| Yes, no. (%) | 7 (70) | 128 (61) | 0 (0) | 135 (61) | |
| Missing data, no. (%) | 1 (10) | 5 (2) | 0 (0) | 6 (3) | |
| Hemoglobin | .79 | ||||
| Median (g/dL) | 10 | 9.9 | 9 | 10 | |
| Range (g/dL) | 7.7-13.9 | 6-15 | |||
| White blood cell count | .58 | ||||
| Median, × 109/L | 4.4 | 4.2 | 6 | 5 | |
| Range, × 109/L | 1.3-36.7 | 0.9-20 | 5 | 0.9-36.7 | |
| Neutrophil count | .73 | ||||
| Median, × 109/L | 1.8 | 2.2 | 3.1 | 2.1 | |
| Range, × 109/L | 0.3-23.1 | 0.3-17.5 | 5 | 0.3-23.1 | |
| Platelet count | .17 | ||||
| Median, × 109/L | 147 | 158 | 258 | 197 | |
| Range, × 109/L | 27-276 | 5-1398 | |||
| IPSS | .89 | ||||
| Low risk (%) | 3 (27) | 71 (34) | 1 (50) | 73 (33) | |
| Intermediate-1 (%) | 5 (45) | 88 (42) | 1 (50) | 92 (42) | |
| Intermediate-2 (%) | 2 (18) | 24 (11) | 0 (0) | 26 (12) | |
| High (%) | 1 (9) | 24 (11) | 0 (0) | 25 (11) | |
| Missing data, no. (%) | 0 (0) | 3 (1) | 0 (0) | 4 (2) | |
| Cytology | |||||
| Multilineage dysplasia, no. (%) | 5 (50) | 110 (52) | 1 | 0 (0) | 115 (52) |
| Dyserythropoesis, no. (%) | 5 (50) | 113 (54) | .46 | 1 (50) | 137 (62) |
| Dysgranulopoesis, no. (%) | 9 (90) | 131 (62) | .06 | 2 (100) | 138 (63) |
| Dysmegalopoesis, no. (%) | 5 (50) | 126 (60) | .5 | 0 (0) | 131 (59) |
| Transfusion dependence | .74 | ||||
| Yes, no. (%) | 5 (55) | 89 (48) | 2 (100) | 92 (42) | |
| Missing data, no. (%) | 2 (20) | 23 (11) | 0 (0) | 26 (12) |
| Characteristic . | BCOR mutated (n = 11) . | BCOR wild-type (n =211) . | P . | BCORL1 mutated (n = 2) . | BCORL1 wild-type (n = 220) . |
|---|---|---|---|---|---|
| Age, y | .92 | ||||
| Median | 72.5 | 72 | 69 | 88 | |
| Range | 57-95 | 42-95 | |||
| Sex | .53 | ||||
| Male, no. (%) | 5 (45) | 125 (59) | 1 (50) | 129 (58) | |
| Female, no. (%) | 6 (55) | 86 (41) | 1 (50) | 91 (42) | |
| WHO subtype | .81 | ||||
| RA, no. (%) | 0 (0) | 34 (16) | 0 (0) | 34 (15) | |
| RARS, no. (%) | 2 (18) | 25 (12) | 2 (100) | 25 (11) | |
| RCMD, no. (%) | 1 (9) | 30 (14) | 0 (0) | 31 (14) | |
| RCMD-RS, no. (%) | 1 (9) | 7 (3) | 0 (0) | 8 (4) | |
| RAEB-1, no. (%) | 4 (36) | 52 (25) | 0 (0) | 56 (25) | |
| RAEB-2, no. (%) | 2 (18) | 43 (20) | 0 (0) | 45 (20) | |
| del (5q), no. (%) | 0 (0) | 2 (1) | 0 (0) | 2 (1) | |
| RARS-T, no. (%) | 0 (0) | 6 (3) | 0 (0) | 6 (3) | |
| MDS-U, (%) | 1 (9) | 12 (6) | 0 (0) | 13 (6) | |
| Missing data, no. (%) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | |
| Ring sideroblasts | .4 | ||||
| Present, no. (%) | 3 (30) | 38 (18) | 2 (100) | 39 (18) | |
| Karyotype risk* | .45 | ||||
| Low, no. (%) | 9 (81) | 150 (72) | 1 (50) | 158 (72) | |
| Intermediate, no. (%) | 1 (9) | 36 (17) | 1 (50) | 36 (17) | |
| High, no. (%) | 0(0) | 19 (9) | 0 (0) | 19 (9) | |
| Missing data, no. (%) | 1 (9) | 5 (2) | 0 (0) | 7 (3) | |
| Bone marrow blasts | .95 | ||||
| Median (%) | 2.5 | 4 | 1.5 | 6 | |
| Range | 1-19 | 0-19 | |||
| Normal karyotype | .75 | ||||
| Yes, no. (%) | 7 (70) | 128 (61) | 0 (0) | 135 (61) | |
| Missing data, no. (%) | 1 (10) | 5 (2) | 0 (0) | 6 (3) | |
| Hemoglobin | .79 | ||||
| Median (g/dL) | 10 | 9.9 | 9 | 10 | |
| Range (g/dL) | 7.7-13.9 | 6-15 | |||
| White blood cell count | .58 | ||||
| Median, × 109/L | 4.4 | 4.2 | 6 | 5 | |
| Range, × 109/L | 1.3-36.7 | 0.9-20 | 5 | 0.9-36.7 | |
| Neutrophil count | .73 | ||||
| Median, × 109/L | 1.8 | 2.2 | 3.1 | 2.1 | |
| Range, × 109/L | 0.3-23.1 | 0.3-17.5 | 5 | 0.3-23.1 | |
| Platelet count | .17 | ||||
| Median, × 109/L | 147 | 158 | 258 | 197 | |
| Range, × 109/L | 27-276 | 5-1398 | |||
| IPSS | .89 | ||||
| Low risk (%) | 3 (27) | 71 (34) | 1 (50) | 73 (33) | |
| Intermediate-1 (%) | 5 (45) | 88 (42) | 1 (50) | 92 (42) | |
| Intermediate-2 (%) | 2 (18) | 24 (11) | 0 (0) | 26 (12) | |
| High (%) | 1 (9) | 24 (11) | 0 (0) | 25 (11) | |
| Missing data, no. (%) | 0 (0) | 3 (1) | 0 (0) | 4 (2) | |
| Cytology | |||||
| Multilineage dysplasia, no. (%) | 5 (50) | 110 (52) | 1 | 0 (0) | 115 (52) |
| Dyserythropoesis, no. (%) | 5 (50) | 113 (54) | .46 | 1 (50) | 137 (62) |
| Dysgranulopoesis, no. (%) | 9 (90) | 131 (62) | .06 | 2 (100) | 138 (63) |
| Dysmegalopoesis, no. (%) | 5 (50) | 126 (60) | .5 | 0 (0) | 131 (59) |
| Transfusion dependence | .74 | ||||
| Yes, no. (%) | 5 (55) | 89 (48) | 2 (100) | 92 (42) | |
| Missing data, no. (%) | 2 (20) | 23 (11) | 0 (0) | 26 (12) |
RA, refractory anemia; RAEB-1, refractory anemia with excess blasts-1; RAEB-2, refractory anemia with excess blasts-2; RARS, refractory anemia with ringed sideroblats; RARS-T, refractory anemia with ringed sideroblats and thrombocytosis; RCMD, refractory cytopenia with multilineage dysplasia; RCMD-RS, refractory cytopenia with multilineage dysplasia and ringed sideroblasts; MDS-U, myelodysplastic syndrome unclassified.
Karyotype risk groups according to Greenberg et al.27