Table 1. CH defined by both acquired mCA and/or driver somatic mutations.
Participants | Discovery cohort | Validation cohort | Total | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Males | Female | Total | Males | Females | Total | ||||||
N | % | N | % | N | % | N | % | ||||
Total number | 45198 | 45% | 55118 | 55% | 100316 | 44956 | 45% | 55359 | 55% | 100315 | 200631 |
All CH | 1286 | 45% | 1582 | 55% | 2868 | 1335 | 47% | 1515 | 53% | 2850 | 5718 |
Myeloid CH a | 831 | 46% | 960 | 54% | 1791 | 885 | 49% | 912 | 51% | 1797 | 3588 |
Lymphoid CH b | 135 | 48% | 146 | 52% | 281 | 140 | 46% | 167 | 54% | 307 | 588 |
All mCA | 431 | 42% | 585 | 58% | 1016 | 439 | 44% | 561 | 56% | 1000 | 2016 |
Myeloid mCA | 48 | 53% | 42 | 47% | 90 | 54 | 57% | 41 | 43% | 95 | 185 |
Lymphoid mCA | 57 | 50% | 56 | 50% | 113 | 60 | 48% | 64 | 52% | 124 | 237 |
Other mCA | 326 | 40% | 487 | 60% | 813 | 325 | 42% | 456 | 58% | 781 | 1594 |
All driver mutations | 894 | 47% | 1027 | 53% | 1921 | 941 | 48% | 1001 | 52% | 1942 | 3863 |
Myeloid genes c,d | 805 | 46% | 933 | 54% | 1738 | 854 | 49% | 890 | 51% | 1744 | 3482 |
DNMT3A | 295 | 39% | 470 | 61% | 765 | 348 | 45% | 419 | 55% | 767 | 1532 |
TET2 | 193 | 46% | 225 | 54% | 418 | 188 | 46% | 217 | 54% | 405 | 823 |
ASXL1 | 103 | 64% | 59 | 36% | 162 | 92 | 64% | 51 | 36% | 143 | 305 |
JAK2 | 37 | 58% | 27 | 42% | 64 | 46 | 57% | 35 | 43% | 81 | 145 |
Other myeloid genes | 220 | 54% | 190 | 46% | 410 | 225 | 52% | 207 | 48% | 432 | 842 |
Lymphoid genes | 89 | 49% | 94 | 51% | 183 | 87 | 44% | 111 | 56% | 198 | 381 |
Control (CH-free) | 43912 | 45% | 53536 | 55% | 97448 | 43621 | 45% | 53844 | 55% | 97465 | 194913 |
79 participants had both myeloid mutations and myeloid mCA
Lymphoid CH was defined by lymphoid mCA and/or lymphoid mutations, without myeloid mutations or myeloid mCA. 30 participants had both lymphoid mutations and lymphoid mCA
14 participants had both myeloid and lymphoid mutations and were classed as myeloid
218 participants had more than one myeloid gene mutation