Chromosomal and genomic abnormalities according to BM stage
| Chromosomal and genomic abnormalities . | All patients with abnormalities (n = 35) . | Normal BM* (n = 8 patients) . | MH/AA (n = 20 patients) . | MDS (n = 18 patients) . | AML (n = 11 patients) . | Significance‡ of normal BM* and MH/AA vs MDS and AML . |
|---|---|---|---|---|---|---|
| Karyotype | ||||||
| Abnormal | 29 (82.8%) | 3 (37.5%)* | 4 (20.0%) | 13 (72.2%) | 9 (81.8%) | < .0001 |
| Complex (≥ 3) | 9 (25.7%) | — | — | 5 (27.8%) | 4 (36.4%) | < .01 |
| Array-CGH-SNP | ||||||
| Abnormal | 32 (91.4%) | 1 (12.5%)* | 5 (25.0%) | 15 (83.4%) | 11 (100%) | < .000001 |
| Recurrent abnormality | ||||||
| 1q+ | 19 (54.3%) | 3 (37.5%)* | 3 (15.0%) | 7 (38.9%) | 6 (54.5%) | NS |
| 3q+ | 12 (34.3%) | — | — | 7 (38.9%) | 5 (45.5%) | < .001 |
| 21q/RUNX1 | 6 (17.2%) | — | — | 2 (11.1%) | 4 (36.4%) | < .05 |
| −7/7q− | 5 (14.3%) | — | — | 1 (5.6%) | 4 (36.4%) | .05 |
| 11q− | 5 (14.3%) | — | 1 (5.0%) | 3 (16.7%) | 1 (9.1%) | NS |
| 20q− | 4 (11.4%) | — | 2 (10.0%) | 1 (5.6%) | 1 (9.1%) | NS |
| 5q− | 3 (8.6%) | — | — | 3 (16.7%) | — | NS |
| 9p+ | 3 (8.6%) | — | — | 2 (11.1%) | 1 (9.1%) | NS |
| +8 | 2 (5.7%) | — | — | 1 (5.6%) | 1 (9.1%) | NS |
| Oncogene mutations† | ||||||
| Yes | 3 (8.6%) | — | — | — | 3 (27.3%) | NS |
| Total patients with abnormalities | 35 (100.0%) | 3 (37.5%)* | 5 (25.0%) | 16 (88.9%) | 11 (100.0%) | < .000001 |
| No. of abnormalities per patient, for all patients (mean) | 2.3 | 0.75 | 0.6 | 3.1 | 4.9 | < .000001 |
| No. of abnormalities per patient, in patients with abnormalities (mean) | 3.2 | 2.0 | 2.4 | 3.5 | 4.9 | NS |
| Chromosomal and genomic abnormalities . | All patients with abnormalities (n = 35) . | Normal BM* (n = 8 patients) . | MH/AA (n = 20 patients) . | MDS (n = 18 patients) . | AML (n = 11 patients) . | Significance‡ of normal BM* and MH/AA vs MDS and AML . |
|---|---|---|---|---|---|---|
| Karyotype | ||||||
| Abnormal | 29 (82.8%) | 3 (37.5%)* | 4 (20.0%) | 13 (72.2%) | 9 (81.8%) | < .0001 |
| Complex (≥ 3) | 9 (25.7%) | — | — | 5 (27.8%) | 4 (36.4%) | < .01 |
| Array-CGH-SNP | ||||||
| Abnormal | 32 (91.4%) | 1 (12.5%)* | 5 (25.0%) | 15 (83.4%) | 11 (100%) | < .000001 |
| Recurrent abnormality | ||||||
| 1q+ | 19 (54.3%) | 3 (37.5%)* | 3 (15.0%) | 7 (38.9%) | 6 (54.5%) | NS |
| 3q+ | 12 (34.3%) | — | — | 7 (38.9%) | 5 (45.5%) | < .001 |
| 21q/RUNX1 | 6 (17.2%) | — | — | 2 (11.1%) | 4 (36.4%) | < .05 |
| −7/7q− | 5 (14.3%) | — | — | 1 (5.6%) | 4 (36.4%) | .05 |
| 11q− | 5 (14.3%) | — | 1 (5.0%) | 3 (16.7%) | 1 (9.1%) | NS |
| 20q− | 4 (11.4%) | — | 2 (10.0%) | 1 (5.6%) | 1 (9.1%) | NS |
| 5q− | 3 (8.6%) | — | — | 3 (16.7%) | — | NS |
| 9p+ | 3 (8.6%) | — | — | 2 (11.1%) | 1 (9.1%) | NS |
| +8 | 2 (5.7%) | — | — | 1 (5.6%) | 1 (9.1%) | NS |
| Oncogene mutations† | ||||||
| Yes | 3 (8.6%) | — | — | — | 3 (27.3%) | NS |
| Total patients with abnormalities | 35 (100.0%) | 3 (37.5%)* | 5 (25.0%) | 16 (88.9%) | 11 (100.0%) | < .000001 |
| No. of abnormalities per patient, for all patients (mean) | 2.3 | 0.75 | 0.6 | 3.1 | 4.9 | < .000001 |
| No. of abnormalities per patient, in patients with abnormalities (mean) | 3.2 | 2.0 | 2.4 | 3.5 | 4.9 | NS |
— indicates no case; and NS, not significant.
Inclusions of patients with normal BM were enriched with patients who had abnormal karyotype and/or age > 18 years.
Data observed from 25 patients; the mutation screen included TET2, CBL, NRAS, TP53, RUNX1, CEBPα, FLT3-ITD, FLT3-TKD, NPM1, and MLL-PTD.
Fischer exact test.