Frequency and demographics of chromosomal abnormalities
Chromosome involved . | Description of abnormality . | Patients, no. (%)* . | Median age, y (range) . | P . | Secondary disease (% of those with abnormality) . | P . |
---|---|---|---|---|---|---|
— | Normal karyotype | 2432 (41) | 46 (16-59) | 135 (6) | ||
1 | Abnormality of 1p | 86 (2) | 43.5 (16-59) | .9 | 16 (19) | < .001 |
t(1;22)(p13;q13) | 1 (< 0.5) | 37 | 0 | |||
Abnormality of 1q | 84 (1) | 48 (16-59) | .09 | 12 (14) | .03 | |
3 | Monosomy 3 | 39 (1) | 51 (22-59) | .002 | 9 (23) | .002 |
Abnormality of 3q | ||||||
inv(3)(q21q26)/t(3;3)(q21;q26) | 69 (1) | 43 (18-59) | .7 | 11 (17) | .02 | |
t(3;5)(q21∼25;q31∼35) | 26 (< .5) | 30.5 (16-58) | .005 | 3 (12) | .4 | |
Other abnormality of 3q | 108 (2) | 46.5 (18-59) | .03 | 16 (15) | .008 | |
4 | Trisomy 4 | 70 (1) | 43 (18-59) | .7 | 5 (7) | > .999 |
5 | Abnormality of 5q | |||||
Monosomy 5 | 129 (2) | 51 (18-59) | < .001 | 24 (19) | < .001 | |
del(5q) | 146 (2) | 51 (16-59) | < .001 | 28 (19) | < .001 | |
add(5q) | 60 (1) | 45.5 (18-59) | .4 | 9 (15) | .04 | |
6 | Trisomy 6 | 65 (1) | 49 (16-59) | .03 | 10 (15) | .03 |
t(6;9)(p23;q34) | 42 (1) | 44 (19-59) | .5 | 2 (5) | .8 | |
Abnormality of 6q, not t(6;11) | 79 (1) | 44 (16-59) | .9 | 9 (11) | .19 | |
7 | Monosomy 7 | 279 (5) | 47 (16-59) | < .001 | 54 (19) | < .001 |
Abnormality of 7q | ||||||
del(7q) | 145 (2) | 49 (16-59) | < .001 | 28 (19) | < .001 | |
add(7q) | 68 (1) | 47 (16-59) | .02 | 9 (13) | .1 | |
Abnormality of 7p | 81 (1) | 42 (16-59) | .5 | 17 (21) | < .001 | |
8 | Trisomy 8 | 547 (10) | 44 (16-59) | .7 | 57 (10) | .008 |
t(8;21)(q22;q22) and variants | 421 (7) | 40 (16-59) | < .001 | 13 (3) | < .001 | |
Abnormality of 8p11∼12 | 23 (< .5) | 32 (16-58) | .05 | 2 (9) | .7 | |
9 | Monosomy 9 | 25 (< .5) | 47 (17-57) | .4 | 3 (12) | .4 |
t(9;22)(q34;q11) and variants | 47 (1) | 43 (22-58) | .7 | 1 (2) | .3 | |
Deletion of 9q, including add(9q) | 133 (2) | 45 (16-59) | .7 | 10 (8) | .9 | |
11 | Trisomy 11 | 81 (1) | 51 (16-59) | < .001 | 7 (9) | .7 |
All 11q23 | ||||||
t(9;11)(p21∼22;q23) | 61 (1) | 38 (16-58) | < .001 | 6 (10) | .5 | |
t(10;11)(p11∼14;q13∼23) | 34 (1) | 33.5 (16-59) | < .001 | 0 | .18 | |
t(6;11)(q27;q23) | 24 (< .5) | 33 (17-57) | .001 | 1 (4) | > .999 | |
t(11;19)(q23;p13) | 30 (1) | 35.5 (16-57) | .01 | 4 (13) | .3 | |
Other 11q23 | 62 (1) | 38.5 (17-59) | .008 | 7 (11) | .2 | |
Abnormality of 11q (not 11q23) | 117 (2) | 43 (16-59) | .9 | 9 (8) | .9 | |
Abnormality of 11p13∼15 | 37 (1) | 40 (16-57) | .14 | 7 (19) | .007 | |
12 | Abnormality of 12p | |||||
Monosomy 12 | 57 (1) | 52 (18-59) | < .001 | 11 (19) | .003 | |
Other abnormality of 12p13 | 50 (1) | 46 (16-58) | .4 | 4 (8) | .8 | |
Other abnormality of 12p, not 12p13 | 93 (2) | 45 (17-59) | .4 | 19 (20) | < .001 | |
13 | Trisomy 13 | 93 (2) | 50 (16-59) | < .001 | 12 (13) | .07 |
Abnormality of 13q | ||||||
Monosomy 13 | 73 (1) | 49 (16-59) | .01 | 14 (19) | < .001 | |
Deletion of 13q | 27 (< .5) | 42 (20-59) | .17 | 2 (7) | > .999 | |
15 | t(15;17)(q22;q21) and variants | 788 (13) | 39 (16-59) | < .001 | 24 (3) | < .001 |
Abnormality of 15q, not t(15;17) | 40 (1) | 42.5 (19-58) | .4 | 3 (8) | 1.0 | |
16 | inv(16)(p13q22)/t(16;16)(p13;q22) | 284 (5) | 38 (16-59) | < .001 | 12 (4) | .04 |
Abnormality of 16q, not inv(16) | 91 (2) | 43 (16-59) | .8 | 12 (13) | .04 | |
17 | Monosomy 17 | 121 (2) | 51 (16-59) | < .001 | 15 (12) | .05 |
Abnormality of 17p | 145 (2) | 46 (16-59) | .03 | 20 (14) | .006 | |
18 | Monosomy 18 | 97 (2) | 49 (18-59) | < .001 | 20 (21) | < .001 |
19 | Trisomy 19 | 58 (1) | 41 (16-59) | .15 | 4 (7) | > .999 |
20 | Monosomy 20 | 53 (1) | 49 (16-59) | .004 | 10 (19) | .005 |
Abnormality of 20q | 48 (1) | 49 (20-59) | .04 | 4 (8) | .8 | |
21 | Trisomy 21 (acquired) | 148 (3) | 46 (17-59) | .13 | 21 (14) | .004 |
Abnormality of 21q, not t(8;21) | 74 (1) | 49 (16-59) | .004 | 15 (20) | < .001 | |
22 | Trisomy 22 | 113 (2) | 42 (18-59) | .9 | 10 (9) | .6 |
X | Loss of X | 109 (2) | 41 (16-59) | .16 | 9 (8) | .7 |
Y | Loss of Y | 200 (3) | 42 (16-59) | .4 | 10 (5) | .2 |
Other† | 139 (2) | 46 (16-59) | .05 | 14 (10) | .2 | |
Level of karyotype complexity | ||||||
1 abnormality | 1830 (31) | 42 (16-59) | 131 (7) | |||
2 abnormalities | 786 (13) | 40 (16-59) | 70 (9) | |||
3 abnormalities | 275 (5) | 41 (17-59) | 17 (6) | |||
4 abnormalities | 123 (2) | 42 (16-59) | 14 (11) | |||
5 or more abnormalities | 430 (7) | 49 (16-59) | 68 (16) | |||
P for trend | .09 | < .001 |
Chromosome involved . | Description of abnormality . | Patients, no. (%)* . | Median age, y (range) . | P . | Secondary disease (% of those with abnormality) . | P . |
---|---|---|---|---|---|---|
— | Normal karyotype | 2432 (41) | 46 (16-59) | 135 (6) | ||
1 | Abnormality of 1p | 86 (2) | 43.5 (16-59) | .9 | 16 (19) | < .001 |
t(1;22)(p13;q13) | 1 (< 0.5) | 37 | 0 | |||
Abnormality of 1q | 84 (1) | 48 (16-59) | .09 | 12 (14) | .03 | |
3 | Monosomy 3 | 39 (1) | 51 (22-59) | .002 | 9 (23) | .002 |
Abnormality of 3q | ||||||
inv(3)(q21q26)/t(3;3)(q21;q26) | 69 (1) | 43 (18-59) | .7 | 11 (17) | .02 | |
t(3;5)(q21∼25;q31∼35) | 26 (< .5) | 30.5 (16-58) | .005 | 3 (12) | .4 | |
Other abnormality of 3q | 108 (2) | 46.5 (18-59) | .03 | 16 (15) | .008 | |
4 | Trisomy 4 | 70 (1) | 43 (18-59) | .7 | 5 (7) | > .999 |
5 | Abnormality of 5q | |||||
Monosomy 5 | 129 (2) | 51 (18-59) | < .001 | 24 (19) | < .001 | |
del(5q) | 146 (2) | 51 (16-59) | < .001 | 28 (19) | < .001 | |
add(5q) | 60 (1) | 45.5 (18-59) | .4 | 9 (15) | .04 | |
6 | Trisomy 6 | 65 (1) | 49 (16-59) | .03 | 10 (15) | .03 |
t(6;9)(p23;q34) | 42 (1) | 44 (19-59) | .5 | 2 (5) | .8 | |
Abnormality of 6q, not t(6;11) | 79 (1) | 44 (16-59) | .9 | 9 (11) | .19 | |
7 | Monosomy 7 | 279 (5) | 47 (16-59) | < .001 | 54 (19) | < .001 |
Abnormality of 7q | ||||||
del(7q) | 145 (2) | 49 (16-59) | < .001 | 28 (19) | < .001 | |
add(7q) | 68 (1) | 47 (16-59) | .02 | 9 (13) | .1 | |
Abnormality of 7p | 81 (1) | 42 (16-59) | .5 | 17 (21) | < .001 | |
8 | Trisomy 8 | 547 (10) | 44 (16-59) | .7 | 57 (10) | .008 |
t(8;21)(q22;q22) and variants | 421 (7) | 40 (16-59) | < .001 | 13 (3) | < .001 | |
Abnormality of 8p11∼12 | 23 (< .5) | 32 (16-58) | .05 | 2 (9) | .7 | |
9 | Monosomy 9 | 25 (< .5) | 47 (17-57) | .4 | 3 (12) | .4 |
t(9;22)(q34;q11) and variants | 47 (1) | 43 (22-58) | .7 | 1 (2) | .3 | |
Deletion of 9q, including add(9q) | 133 (2) | 45 (16-59) | .7 | 10 (8) | .9 | |
11 | Trisomy 11 | 81 (1) | 51 (16-59) | < .001 | 7 (9) | .7 |
All 11q23 | ||||||
t(9;11)(p21∼22;q23) | 61 (1) | 38 (16-58) | < .001 | 6 (10) | .5 | |
t(10;11)(p11∼14;q13∼23) | 34 (1) | 33.5 (16-59) | < .001 | 0 | .18 | |
t(6;11)(q27;q23) | 24 (< .5) | 33 (17-57) | .001 | 1 (4) | > .999 | |
t(11;19)(q23;p13) | 30 (1) | 35.5 (16-57) | .01 | 4 (13) | .3 | |
Other 11q23 | 62 (1) | 38.5 (17-59) | .008 | 7 (11) | .2 | |
Abnormality of 11q (not 11q23) | 117 (2) | 43 (16-59) | .9 | 9 (8) | .9 | |
Abnormality of 11p13∼15 | 37 (1) | 40 (16-57) | .14 | 7 (19) | .007 | |
12 | Abnormality of 12p | |||||
Monosomy 12 | 57 (1) | 52 (18-59) | < .001 | 11 (19) | .003 | |
Other abnormality of 12p13 | 50 (1) | 46 (16-58) | .4 | 4 (8) | .8 | |
Other abnormality of 12p, not 12p13 | 93 (2) | 45 (17-59) | .4 | 19 (20) | < .001 | |
13 | Trisomy 13 | 93 (2) | 50 (16-59) | < .001 | 12 (13) | .07 |
Abnormality of 13q | ||||||
Monosomy 13 | 73 (1) | 49 (16-59) | .01 | 14 (19) | < .001 | |
Deletion of 13q | 27 (< .5) | 42 (20-59) | .17 | 2 (7) | > .999 | |
15 | t(15;17)(q22;q21) and variants | 788 (13) | 39 (16-59) | < .001 | 24 (3) | < .001 |
Abnormality of 15q, not t(15;17) | 40 (1) | 42.5 (19-58) | .4 | 3 (8) | 1.0 | |
16 | inv(16)(p13q22)/t(16;16)(p13;q22) | 284 (5) | 38 (16-59) | < .001 | 12 (4) | .04 |
Abnormality of 16q, not inv(16) | 91 (2) | 43 (16-59) | .8 | 12 (13) | .04 | |
17 | Monosomy 17 | 121 (2) | 51 (16-59) | < .001 | 15 (12) | .05 |
Abnormality of 17p | 145 (2) | 46 (16-59) | .03 | 20 (14) | .006 | |
18 | Monosomy 18 | 97 (2) | 49 (18-59) | < .001 | 20 (21) | < .001 |
19 | Trisomy 19 | 58 (1) | 41 (16-59) | .15 | 4 (7) | > .999 |
20 | Monosomy 20 | 53 (1) | 49 (16-59) | .004 | 10 (19) | .005 |
Abnormality of 20q | 48 (1) | 49 (20-59) | .04 | 4 (8) | .8 | |
21 | Trisomy 21 (acquired) | 148 (3) | 46 (17-59) | .13 | 21 (14) | .004 |
Abnormality of 21q, not t(8;21) | 74 (1) | 49 (16-59) | .004 | 15 (20) | < .001 | |
22 | Trisomy 22 | 113 (2) | 42 (18-59) | .9 | 10 (9) | .6 |
X | Loss of X | 109 (2) | 41 (16-59) | .16 | 9 (8) | .7 |
Y | Loss of Y | 200 (3) | 42 (16-59) | .4 | 10 (5) | .2 |
Other† | 139 (2) | 46 (16-59) | .05 | 14 (10) | .2 | |
Level of karyotype complexity | ||||||
1 abnormality | 1830 (31) | 42 (16-59) | 131 (7) | |||
2 abnormalities | 786 (13) | 40 (16-59) | 70 (9) | |||
3 abnormalities | 275 (5) | 41 (17-59) | 17 (6) | |||
4 abnormalities | 123 (2) | 42 (16-59) | 14 (11) | |||
5 or more abnormalities | 430 (7) | 49 (16-59) | 68 (16) | |||
P for trend | .09 | < .001 |
Cases were categorized according to presence of the cytogenetic entities previously defined in a large cohort of pediatric AML patients treated in the MRC AML trials.21 According to this scheme, abnormal karyotypes with more than 1 abnormality were classified into several relevant groups. AML indicates acute myeloid leukemia; and MRC, Medical Research Council.
As percentage of cases with a successful cytogenetic result.
Other karyotypes, not classified into any listed group.