Table 2.
Cytogenetics
| Abnormality | CR1 patients N. (%)a |
CR2 patients N. (%)a |
|---|---|---|
| Number of patients | 499 | 322 |
|
| ||
| Normal | 281 (56) | 215 (67) |
|
| ||
| t(8;21) | 17 (3) | 24 (7) |
| Isolated | 11 | 12 |
| With del(9q) or complex karyotype | 2 | 8 |
| With other abnormalities | 4 | 4 |
|
| ||
| inv(16)-related (inv(16) or t(16;16)) | 15 (3) | 29 (9) |
| Isolated | 7 | 20 |
| With complex karyotype | 6 | 4 |
| With other abnormalities | 2 | 5 |
|
| ||
| Abnormal 7b | 33 (7) | 12 (4) |
| −7 | 17 | 5 |
| del(7q) | 10 | 5 |
| der(1;7)(q10;p10) | 2 | 0 |
| Other 7q abnormality | 4 | 2 |
|
| ||
| Abnormal 5c | 28 (6) | 3 (1) |
| −5 | 7 | 0 |
| del(5q) | 17 | 3 |
| Other 5q abnormality | 4 | 0 |
|
| ||
| 11q23 abnormality | 37 (7) | 10 (3) |
| t(6;11) | 6 | 3 |
| t(9;11) | 14 | 2 |
| t(10;11) | 2 | 0 |
| t(11;19) | 5 | 1 |
| Other 11q23 abnormality | 10 | 4 |
|
| ||
| 3q abnormality | 11 (2) | 3 (1) |
| t(3;3) | 1 | 0 |
| inv(3q) | 2 | 0 |
| t(3;5) | 0 | 1 |
| Other 3q abnormality | 8 | 2 |
|
| ||
| Trisomy/Tetrasomy | ||
| trisomy 8 | 31 (6) | 13 (4) |
| trisomy 21 | 6 (1) | 4 (1) |
| Other trisomy | 24 (5) | 9 (3) |
| tetrasomy 8 | 2 (0) | 2 (1) |
| tetrasomy 21 | 1 (0) | 0 (0) |
|
| ||
| Monosomy | ||
| Autosomal (except 5, 7 or 17) | 29 (6) | 7 (2) |
| -X | 3 (1) | 1 (0) |
| -Y | 5 (1) | 7 (2) |
|
| ||
| 17p abnormality | 18 (4) | 3 (1) |
| del(17p) | 1 | 0 (0) |
| Other 17p abnormality (including monosomy 17) | 17 | 3 (1) |
|
| ||
| 12p abnormality | 10 (2) | 4 (1) |
| del(12p) | 2 | 2 |
| add(12p) | 2 | 1 |
| t(4;12) | 0 | 1 |
| t(5;12) | 1 | 0 |
|
| ||
| Other 12p abnormality | 5 | 0 |
| Other | ||
| t(1;19) | 1 (0) | 0 (0) |
| t(6;9) | 7 (1) | 2 (1) |
| inv(6) | 1 (0) | 1 (0) |
| t(8;16) | 3 (1) | 0 (0) |
| del(9q) | 4 (1) | 8 (2) |
| dup(11q) | 0 (0) | 0 (0) |
| del(11q23) | 8 (2) | 0 (0) |
| del(16q22) | 1 (0) | 0 (0) |
| del(20q) | 2 (0) | 2 (1) |
| del(21q) | 1 (0) | 0 (0) |
| Tetraploid | 0 (0) | 1 (0) |
|
| ||
| Monosomal karyotyped | 31 (6) | 6 (2) |
|
| ||
| Complex karyotype (≥3 abnormalities) | 67 (13) | 29 (9) |
| 3 abnormalities | 16 (3) | 9 (3) |
| 4 abnormalities | 17 (3) | 7 (2) |
| 5 abnormalities | 34 (7) | 13 (4) |
| # of abnormalities (median, range) | 5 (3–15) | 4 (3–9) |
a
Percentages may not add to 100 because of rounding and because some patients have more than one abnormality (see Methods).
b
Of the patients with monosomy 7, 4 had no other abnormalities, 4 had 1 other abnormality, and the remainder had a complex karyotype (3–15 abnormalities).
c
Other than for 2 patients who had isolated del(5q), abnormalities of chromosome 5 were in all case associated with other abnormalities; patients with monosomy 5 all had complex karyotypes (5–15 abnormalities).
d
defined as ≥2 autosomal monosomies or 1 single autosomal monosomy with ≥1 structural abnormality (clonal deletion, addition, inversion or translocation).