Table 1.
The prevalence of 6p CN-LOH, PNH clones, and clonal TRG rearrangement in BMF disorders
| Total cohort, n = 454 |
6p CN-LOH clone | PNH clone | Clonal TRG rearrangement | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Diagnostic group | SNP-A, n = 356 | 6p CN-LOH (+), n (%) | Comparison, OR | P | PNH testing, n = 190 |
PNH (+), n (%) | OR | P | TCR testing, n = 160 | n (%) | Comparison, OR | P | |
| AA | 170 | 141 | 16 (11) | 126 | 58 (46) | 89 | 26 (29) | ||||||
| AA vs. PNH, 10.39 | .025 | N/A | N/A | AA vs. PNH, 0.28 | .018 | ||||||||
| PNH disease | 42 | 39 | 0 (0) | 42 | 42 (100) | 20 | 12 (60) | ||||||
| AA vs. IBMFSs, 19.59 | .002 | 11.10 | .035 | AA vs. IBMFSs, 2.27 | .208 | ||||||||
| Classical IBMFSs | |||||||||||||
| SDS | 11 | 10 | 0 (0) | 0 | N/A | 5 | 2 (40) | ||||||
| DC | 34 | 20 | 0 (0) | 3 | 0 (0) | 6 | 0 (0) | ||||||
| DBA | 35 | 22 | 0 (0) | 1 | 0 (0) | 8 | 1 (13) | ||||||
| FA | 19 | 14 | 0 (0) | 2 | 0 (0) | 6 | 1 (17) | ||||||
| SCN | 10 | 8 | 0 (0) | 0 | N/A | 1 | 0 (0) | ||||||
| AA vs. all inherited disorders including IBMFSs, 26.43 | .000 | AA vs. all inherited disorders including IBMFSs, 16.23 | .010 | AA vs. all inherited disorders including IBMFSs, 2.23 | .161 | ||||||||
| Other inherited | 38 | 26 | 0 (0) | 3 | 0 (0) | 6 | 1 (17) | ||||||
| AA vs. all non-AA, 56.67 | .000 | AA vs. all non-AA, Non-PNH, 38.43 | .000 | AA vs. all non-AA, non-PNH, 1.09 | .849 | ||||||||
| BMF NOS | 14 | 13 | 0 (0) | 0 | N/A | 2 | 0 (0) | ||||||
| Neutropenia NOS | 42 | 33 | 0 (0) | 1 | 0 (0) | 9 | 4 (44) | ||||||
| MDS | 14 | 10 | 0 (0) | 5 | 0 (0) | 3 | 2 (67) | ||||||
| Other | 25 | 20 | 0 (0) | 7 | 0 (0) | 5 | 3 (60) | ||||||
N/A, not applicable; OR, odds ratio.