Table 1 Correlation of common mutations with clinical and laboratory features in PNH.
From: Mutational landscape and its clinical significance in paroxysmal nocturnal hemoglobinuria
Age (year old, SD) | Sex (male %) | Classical PNH (%) | Patients with thrombosis (%) | FLAER- (%, SD) | UCB (μmol/L, SD) | HGB (g/L, SD) | RET (109/L, SD) | LDH (U/L, SD) | |
|---|---|---|---|---|---|---|---|---|---|
PIGA | |||||||||
Mutated | 39 (12) | 13*** | 50 | 50 | 90.6 (7.3)*** | 15.8 (10.0) | 79.9 (15.1) | 21.0 (12.6) | 1311 (899) |
Unmutated | 39 (14) | 85*** | 45 | 27 | 64.4 (32.1)*** | 17.4 (11.7) | 81.2 (25.1) | 30.5 (63.7) | 1159 (734) |
MAP3K4 | |||||||||
Mutated | 34 (14) | 60 | 20 | 20 | 72.4 (35.4) | 14.2 (13.2) | 72.8 (18.8) | 10.8 (10.8) | 1189 (1057) |
Unmutated | 40 (15) | 72 | 50 | 33 | 68.2 (30.6) | 17.5 (11.1) | 82.1 (23.9) | 30.8 (60.8) | 1189 (729) |
CSMD1 | |||||||||
Mutated | 37 (19) | 60 | 20 | 0 | 56.6 (42.9) | 12.6 (8.8) | 79.8 (27.1) | 9.9 (6.8) | 779 (565) |
Unmutated | 40 (14) | 72 | 50 | 33 | 71.4 (29.0) | 17.7 (11.5) | 81.1 (23.2) | 31.5 (61.6) | 1246 (771) |
NOTCH1 | |||||||||
Mutated | 41 (9) | 50 | 75 | 50 | 63.0 (37.4) | 9.8 (4.8) | 94.5 (26.1) | 15.0 (8.4) | 787 (404) |
Unmutated | 39 (15) | 73 | 43 | 30 | 70.3 (30.5) | 17.8 (11.5) | 79.5 (22.9) | 30.3 (61.0) | 1232 (779) |
FANCD2 | |||||||||
Mutated | 37 (16) | 20 | 25 | 25 | 67.7 (35.6) | 11.1 (8.9) | 72.5 (20.4) | 18.8 (19.0) | 1165 (1323) |
Unmutated | 40 (14) | 76 | 49 | 32 | 69.8 (30.7) | 17.7 (11.4) | 81.9 (23.7) | 29.9 (60.9) | 1191 (703) |
RUNX1T1 | |||||||||
Mutated | 36 (4) | 100 | 75 | 25 | 92.8 (5.4)*** | 30.9 (16.2)** | 55.5 (13.3)* | 31.6 (30.4) | 1301 (565) |
Unmutated | 40 (15) | 68 | 43 | 32 | 67.0 (31.3)*** | 15.6 (9.8)** | 83.7 (22.6)* | 28.4 (60.5) | 1177 (783) |
PEG3 | |||||||||
Mutated | 50 (22) | 75 | 0 | 25 | 59.5 (33.7) | 16.7 (11.7) | 81.3 (23.0) | 54.6 (85.4) | 1355 (1141) |
Unmutated | 38 (13) | 70 | 51 | 32 | 70.6 (30.7) | 17.1 (11.4) | 81.0 (23.7) | 25.8 (54.9) | 1171 (727) |
DIS3 | |||||||||
Mutated | 40 (19) | 100 | 75 | 25 | 75.7 (15.0) | 13.9 (6.7) | 92.5 (34.3) | 13.7 (10.1) | 970 (502) |
Unmutated | 39 (14) | 68 | 43 | 32 | 68.9 (32.0) | 17.4 (11.7) | 79.7 (22.2) | 30.5 (60.9) | 1212 (783) |
BCORL1 | |||||||||
Mutated | 57 (19)** | 50 | 0 | 25 | 53.2 (28.6) | 17.9 (11.1) | 65.3 (17.3) | 53.8 (85.4) | 1316 (1069) |
Unmutated | 37 (13)** | 73 | 51 | 32 | 71.3 (30.8) | 17.0 (11.4) | 82.7 (23.5) | 25.9 (55.0) | 1175 (737) |
SETBP1 | |||||||||
Mutated | 47 (13) | 100 | 75 | 0 | 69.0 (35.7) | 16.9 (8.9) | 76.3 (28.2) | 13.1 (10.4) | 1050 (639) |
Unmutated | 38 (15) | 68 | 43 | 35 | 69.6 (30.7) | 17.1 (11.6) | 81.5 (23.2) | 30.6 (60.9) | 1204 (777) |
