Somatic mutations in AA
| . | Study . | |||||
|---|---|---|---|---|---|---|
| Lane et al13 . | Kulasekararaj et al15 . | Heuser et al14 . | Babushok et al16 . | Yoshizato et al18 . | ||
| N = 39 . | N = 150 . | N = 38 . | N = 22 . | N = 439 (All) . | N = 256 (NIH) . | |
| Ratio of male to female (M/F, n) | 1.3 (22/17) | 0.9 (71/79) | 0.9 (18/20) | 0.7 (9/13) | 1.3 (244/195) | 1.6 (157/99) |
| Median age, y (range) | 34.8 (4-65.7) | 44 (17-84) | 30 (9-79) | 14.5 (1.5-61) | 40.5 (2.5-88) | 29.5 (2.5-82.5) |
| SAA/VSAA, n (%) | 29 (74) | 74 (49) | 27 (71) | 9 (41) | 344 (78) | 256 (100) |
| Serially collected samples, n | — | — | — | — | 82 | 62 |
| Platform for sequencing | ||||||
| Targeted exons | 219 genes | 835 genes (n = 57) | 42 genes | — | 106 genes | |
| Whole exome, n | — | — | — | 22 | 52 | 35 |
| Mutated genes, n (%) | ||||||
| DNMT3A | 1 (2.6) | 8 (5.3) | 0 (0) | 0 (0%) | 37 (8.4) | 18 (7.0) |
| ASXL1 | 2 (5.1) | 12 (8.0) | 1 (2.6) | 1 (4.5) | 27 (6.2) | 17 (6.6) |
| BCOR/BCORL1 | 0 (0) | 6 (4.0) | 0 (0) | 1 (4.5) | 41 (9.3) | 28 (10.9) |
| PIGA | ND | 18 (12.0) | ND | 9 (40.9) | 33 (7.5) | 25 (9.8) |
| Other genes* | 6 (15.1) | 1 (2.6) | 5 (22.7) | 67 (15.3) | 29 (6.6) | |
| Any genes | 9 (23.1) | 29 (19.3) | 2 (5.3) | 16 (72.7) | 157 (35.8) | 90 (35.2) |
| Excluding PIGA alone | 9 (23.1) | 29 (19.3) | 2 (5.3) | 137 (31.2) | 74 (28.9) | |
| Clone size | ||||||
| Median (range) (%) | ND | 20 (1.5-68) | ND | ND | 15.4 (2.4-96.4) | 15.2 (2.4-76.7) |
| Clone size <10%, n (%)† | 7 (78) | 11 (14) | 0 (0) | 2 (9.1) | 130 (29.6) | 79 (30.9) |
| Cytogenetic abnormalities, n (%) | ND | 3 (7.9) | 2 (9.1) | 20 (8.5) | 9 (3.8) | |
| 6pUPD (+) clone, n (%) | ND | 1 | ND | 3 (13.6) | 55 (13.2) | 31 (13.2) |
| PNH clone, n (%) | 4 (10)‡ | 85 (57) | 17 (45) | 10 (46) | 221 (50.3) | 110 (43.0) |
| IST, n (%) | ||||||
| Yes | 19 (49) | 107 (71.3) | ND | 20 (91) | 403 (92.4) | 256 (100) |
| No | 20 (51) | 43 (28.7) | ND | 2 (9) | 33 (7.6) | 0 (0) |
| Transformation to MDS/AML, n (%) | ND | 17 (11.3) | ND | ND | 47 (10.7) | 36 (14.1) |
| . | Study . | |||||
|---|---|---|---|---|---|---|
| Lane et al13 . | Kulasekararaj et al15 . | Heuser et al14 . | Babushok et al16 . | Yoshizato et al18 . | ||
| N = 39 . | N = 150 . | N = 38 . | N = 22 . | N = 439 (All) . | N = 256 (NIH) . | |
| Ratio of male to female (M/F, n) | 1.3 (22/17) | 0.9 (71/79) | 0.9 (18/20) | 0.7 (9/13) | 1.3 (244/195) | 1.6 (157/99) |
| Median age, y (range) | 34.8 (4-65.7) | 44 (17-84) | 30 (9-79) | 14.5 (1.5-61) | 40.5 (2.5-88) | 29.5 (2.5-82.5) |
| SAA/VSAA, n (%) | 29 (74) | 74 (49) | 27 (71) | 9 (41) | 344 (78) | 256 (100) |
| Serially collected samples, n | — | — | — | — | 82 | 62 |
| Platform for sequencing | ||||||
| Targeted exons | 219 genes | 835 genes (n = 57) | 42 genes | — | 106 genes | |
| Whole exome, n | — | — | — | 22 | 52 | 35 |
| Mutated genes, n (%) | ||||||
| DNMT3A | 1 (2.6) | 8 (5.3) | 0 (0) | 0 (0%) | 37 (8.4) | 18 (7.0) |
| ASXL1 | 2 (5.1) | 12 (8.0) | 1 (2.6) | 1 (4.5) | 27 (6.2) | 17 (6.6) |
| BCOR/BCORL1 | 0 (0) | 6 (4.0) | 0 (0) | 1 (4.5) | 41 (9.3) | 28 (10.9) |
| PIGA | ND | 18 (12.0) | ND | 9 (40.9) | 33 (7.5) | 25 (9.8) |
| Other genes* | 6 (15.1) | 1 (2.6) | 5 (22.7) | 67 (15.3) | 29 (6.6) | |
| Any genes | 9 (23.1) | 29 (19.3) | 2 (5.3) | 16 (72.7) | 157 (35.8) | 90 (35.2) |
| Excluding PIGA alone | 9 (23.1) | 29 (19.3) | 2 (5.3) | 137 (31.2) | 74 (28.9) | |
| Clone size | ||||||
| Median (range) (%) | ND | 20 (1.5-68) | ND | ND | 15.4 (2.4-96.4) | 15.2 (2.4-76.7) |
| Clone size <10%, n (%)† | 7 (78) | 11 (14) | 0 (0) | 2 (9.1) | 130 (29.6) | 79 (30.9) |
| Cytogenetic abnormalities, n (%) | ND | 3 (7.9) | 2 (9.1) | 20 (8.5) | 9 (3.8) | |
| 6pUPD (+) clone, n (%) | ND | 1 | ND | 3 (13.6) | 55 (13.2) | 31 (13.2) |
| PNH clone, n (%) | 4 (10)‡ | 85 (57) | 17 (45) | 10 (46) | 221 (50.3) | 110 (43.0) |
| IST, n (%) | ||||||
| Yes | 19 (49) | 107 (71.3) | ND | 20 (91) | 403 (92.4) | 256 (100) |
| No | 20 (51) | 43 (28.7) | ND | 2 (9) | 33 (7.6) | 0 (0) |
| Transformation to MDS/AML, n (%) | ND | 17 (11.3) | ND | ND | 47 (10.7) | 36 (14.1) |