Table 3 Distribution of key copy number alterations by genomic subtype.

From: Integrative genomic analysis of childhood acute lymphoblastic leukaemia lacking a genetic biomarker in the UKALL2003 clinical trial

 

PAX5alt

DUX4-r

CRLF2-r/JAK2-r

ZNF384-r

ABL-class

ETV6::RUNX1-like

 

N = 91

N = 80

N = 53

N = 37

N = 25

N = 21

IKZF1 deletion

 No

54 (70%)

55 (71%)

16 (46%)

28 (93%) †

9 (60%)

10 (59%)

 Yes

23 (30%) *

22 (29%)

19 (54%) ‡

2 (7%)

6 (40%)

7 (41%)

PAX5 deletion

 No

20 (26%)

70 (91%) ‡

20 (57%)

29 (97%) ‡

10 (67%)

12 (71%)

 Yes

57 (74%) ‡

7 (9%)

15 (43%)

1 (3%)

5 (33%)

5 (29%)

CDKN2A/B deletion

 No

5 (6%)

55 (71%) ‡

19 (54%)

24 (80%) †

11 (73%)

15 (88) †

 Yes

72 (94%) ‡

22 (29%)

16 (46%)

6 (20%)

4 (27%)

2 (12%)

BTG1 deletion

 No

75 (97%)

76 (99%)

28 (80%)

28 (93%)

12 (80%)

14 (82%)

 Yes

2 (3%)

1 (1%)

7 (20%) ‡

2 (7%)

3 (20%)

3 (18%)

ETV6 deletion

 No

64 (83%)

71 (92%) †

29 (83%)

20 (67%)

13 (87%)

5 (29%)

 Yes

13 (17%)

6 (8%)

6 (17%)

10 (33%)

2 (13%)

12 (71%) ‡

EBF1 deletion

 No

77 (100%)

77 (100%)

31 (89%)

29 (97%)

15 (100%)

17 (100%)

 Yes

0 (0%)

0 (0%)

4 (11%) ‡

1 (3%)

0 (0%)

0 (0%)

RB1 deletion

 No

74 (96%)

77 (100%)†

31 (89%)

25 (83%)

14 (93%)

16 (94%)

 Yes

3 (4%)

0 (0%)

4 (11%)

5 (17%)

1 (7%)

1 (6%)

IKZF1plus

 No

54 (70%)

76 (99%) ‡

20 (57%)

29 (97%)

11 (73%)

15 (88%)

 Yes

23 (30%) *‡

1 (1%)

15 (43%) ‡

1 (3%)

4 (27%)

2 (12%)

UKALL CNA profile

 GR

5 (6%)

40 (52%) ‡

0 (0%)

20 (67%) ‡

7 (47%)

7 (41%)

 IR/PR

72 (94%) ‡

37 (48%)

35 (100%) ‡

10 (33%)

8 (53%)

10 (59%)

  1. The UKALL-CNA or IKZF1plus profiles are based on the genes included within the P335-IKZF1 MLPA kit. Briefly, the UKALL-CNA profile classifies patients as good risk (CNA-GR), if they have no deletions among the genes tested for, isolated deletions of ETV6, PAX5, BTG1 or ETV6 with a single additional deletion of BTG1, PAX5, or CDKN2A/B. All other profile combinations are classified as intermediate/poor-risk (CNA IR/PR) [36]. The IKZF1plus profile defines patients with an IKZF1 deletion and at least one additional deletion of PAX5, CDKN2A/B, or PAR1, in the absence of an ERG deletion, as poor-risk [40].
  2. significant increase compared to other genomic subtype, p < 0.001.
  3. significant increase compared to other genomic subtype, p < 0.01, p-values generated by Chi-squared testing.
  4. *All 23 patients in the PAX5alt subtype who had an IKZF1 deletion had the IKZF1plus profile.