Genetic characteristics of 29 ALK-negative ALCLs with 6p25.3 rearrangements
Case no. . | Age, years . | Sex . | Disease distribution . | Breakpoint on 6p25.3* . | 7q32.3 BAP FISH . | t(6;7) D-FISH . | No. of fusion signals . |
---|---|---|---|---|---|---|---|
1† | 46 | Male | Systemic | DUSP22 | Break | Fusion | 2 |
2 | 65 | Male | Systemic | DUSP22 | Break | Fusion | 2 |
3 | 79 | Male | Systemic | DUSP22 | Break | Fusion | 1 or 2 |
4 | 89 | Female | Cutaneous | DUSP22 | Break | Fusion | 1 or 2 |
5 | 50 | Male | Systemic | DUSP22 | Break | Fusion | 1 or 2 |
6 | 68 | Male | Cutaneous | DUSP22 | Break | Fusion | 1 |
7 | 66 | Female | Cutaneous | DUSP22 | Break | Fusion | 1 |
8 | 65 | Male | Systemic | DUSP22 | Break | Fusion | 1 |
9 | 50 | Male | Cutaneous | DUSP22 | Break | Fusion | 1 |
10 | 51 | Male | Systemic | IRF4 | Break | Fusion | 1 |
11 | 65 | Male | Cutaneous | Indeterminate | Break | Fusion | 1 |
12 | 77 | Male | Cutaneous | IRF4 | Break | Tissue depleted | — |
13 | 65 | Male | Systemic | Indeterminate | Break | Tissue depleted | — |
14 | 76 | Male | Cutaneous | DUSP22 | Aneuploid | — | — |
15 | 66 | Male | Cutaneous | DUSP22 | Aneuploid | — | — |
16 | 59 | Female | Cutaneous | IRF4 | Aneuploid | — | — |
17 | 52 | Male | Cutaneous | IRF4 | Aneuploid | — | — |
18 | 57 | Male | Cutaneous | Indeterminate | Aneuploid | — | — |
19 | 65 | Female | Cutaneous | Tissue depleted | Aneuploid | — | — |
20 | 71 | Female | Cutaneous | DUSP22 | Normal | — | — |
21 | 50 | Male | Systemic | DUSP22 | Normal | — | — |
22 | 54 | Male | Systemic | DUSP22 | Normal | — | — |
23 | 33 | Female | Systemic | DUSP22 | Normal | — | — |
24 | 62 | Male | Systemic | IRF4 | Normal | — | — |
25 | 35 | Male | Cutaneous | IRF4 | Normal | — | — |
26 | 54 | Male | Systemic | IRF4 | Normal | — | — |
27 | 56 | Female | Cutaneous | IRF4 | Normal | — | — |
28 | 45 | Male | Cutaneous | Indeterminate | Normal | — | — |
29 | 86 | Male | Cutaneous | Indeterminate | Normal | — | — |
Case no. . | Age, years . | Sex . | Disease distribution . | Breakpoint on 6p25.3* . | 7q32.3 BAP FISH . | t(6;7) D-FISH . | No. of fusion signals . |
---|---|---|---|---|---|---|---|
1† | 46 | Male | Systemic | DUSP22 | Break | Fusion | 2 |
2 | 65 | Male | Systemic | DUSP22 | Break | Fusion | 2 |
3 | 79 | Male | Systemic | DUSP22 | Break | Fusion | 1 or 2 |
4 | 89 | Female | Cutaneous | DUSP22 | Break | Fusion | 1 or 2 |
5 | 50 | Male | Systemic | DUSP22 | Break | Fusion | 1 or 2 |
6 | 68 | Male | Cutaneous | DUSP22 | Break | Fusion | 1 |
7 | 66 | Female | Cutaneous | DUSP22 | Break | Fusion | 1 |
8 | 65 | Male | Systemic | DUSP22 | Break | Fusion | 1 |
9 | 50 | Male | Cutaneous | DUSP22 | Break | Fusion | 1 |
10 | 51 | Male | Systemic | IRF4 | Break | Fusion | 1 |
11 | 65 | Male | Cutaneous | Indeterminate | Break | Fusion | 1 |
12 | 77 | Male | Cutaneous | IRF4 | Break | Tissue depleted | — |
13 | 65 | Male | Systemic | Indeterminate | Break | Tissue depleted | — |
14 | 76 | Male | Cutaneous | DUSP22 | Aneuploid | — | — |
15 | 66 | Male | Cutaneous | DUSP22 | Aneuploid | — | — |
16 | 59 | Female | Cutaneous | IRF4 | Aneuploid | — | — |
17 | 52 | Male | Cutaneous | IRF4 | Aneuploid | — | — |
18 | 57 | Male | Cutaneous | Indeterminate | Aneuploid | — | — |
19 | 65 | Female | Cutaneous | Tissue depleted | Aneuploid | — | — |
20 | 71 | Female | Cutaneous | DUSP22 | Normal | — | — |
21 | 50 | Male | Systemic | DUSP22 | Normal | — | — |
22 | 54 | Male | Systemic | DUSP22 | Normal | — | — |
23 | 33 | Female | Systemic | DUSP22 | Normal | — | — |
24 | 62 | Male | Systemic | IRF4 | Normal | — | — |
25 | 35 | Male | Cutaneous | IRF4 | Normal | — | — |
26 | 54 | Male | Systemic | IRF4 | Normal | — | — |
27 | 56 | Female | Cutaneous | IRF4 | Normal | — | — |
28 | 45 | Male | Cutaneous | Indeterminate | Normal | — | — |
29 | 86 | Male | Cutaneous | Indeterminate | Normal | — | — |
These 29 cases with 6p25.3 rearrangements were identified out of a total of 125 ALK-negative ALCLs (23%), including 66 systemic cases and 59 cutaneous cases (supplemental Table 2; and unpublished data).6,8 The estimated frequency of t(6;7) (p25.3;q32.3) is 10% (13 of 125 ALK-negative ALCLs). The frequency of 6p25.3 rearrangements identified in systemic cases (12 of 66; 18%) is higher than that identified in a previous, smaller series.6
BAP FISH indicates breakapart FISH; D-FISH, dual-fusion FISH; and —, not applicable.
Determined using DUSP22 and IRF4 FISH probes shown in supplemental Figure 1. DUSP22 breaks were seen in 15 cases (12% of the 125 ALK-negative ALCLs tested).
Index case (sequenced).