Individual characteristics of the NUP98/NSD1-positive (n = 23) and the other NUP98-translocated (n = 3) AML cases
| ID no. . | NUP98 parter gene . | Cohort . | Age, y . | Sex . | WBC, × 109/L . | FAB . | Cytogenetic aberration(s) . | Aberrant 5q35 or 11p15 on A-CGH or SNP-A . | Reciprocal product . | Mutations . | Therapy protocol . | CR . | Relapse (relapse-free survival in mo) . | Dead (OS in mo) . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 0506 | NSD1 | ped | 10 | M | 332.0 | M4 | Normal | No | Yes | FLT3/ITD + WT1 | MRC12 | + | − (17.2) | + (7.2)* |
| 3397 | NSD1 | ped | 15 | M | 154.4 | M5 | +8 | NA | Yes | FLT3/ITD | MRC12 | + | + (4.4) | + (5.6) |
| 3495 | NSD1 | ped | 14 | M | 57.1 | NA | Normal | dupl 11p15 | No | FLT3/ITD | MRC12 | + | + (6.3) | − (6.3)† |
| 4380 | NSD1 | ped | 4 | M | 7.4 | M4 | Normal | No | No | N-RAS + WT1 | BFM04 | + | + (7.3) | − (64.8)* |
| 4417 | NSD1 | ped | 17 | M | 189.0 | M2 | Normal | No | Yes | FLT3/ITD + WT1 | BFM04 | + | + (5.3) | + (30.2)* |
| 4432 | NSD1 | ped | 6 | M | 324.0 | M2 | Normal | No | Yes | FLT3/ITD + WT1 | BFM04 | + | + (4.9) | + (8.0) |
| 4716 | NSD1 | ped | 4 | M | 377.6 | M1 | Normal | del 11p15 | No | FLT3/ITD | MRC12 | + | + (7.9) | + (9.4) |
| 4730 | NSD1 | ped | 9 | M | 121.3 | M4 | del 9q | NA | Yes | FLT3/ITD | MRC12 | + | + (8.7) | − (14.4)* |
| 4733 | NSD1 | ped | 2 | M | 267.3 | M4 | Normal | No | Yes | FLT3/ITD | MRC12 | + | + (6.9) | + (9.9) |
| 5007 | NSD1 | ped | 14 | F | NA | NA | del 9q | NA | Yes | FLT3/ITD + WT1 | LAME | NA | NA | NA |
| 5144 | NSD1 | ped | 16 | F | 187.0 | M1 | Normal | NA | Yes | FLT3/ITD + WT1 | BFM98 | + | + (4.6) | + (8.2) |
| 5166 | NSD1 | ped | 13 | M | 226.0 | M1/2 | Normal | NA | No | FLT3/ITD | BFM04 | + | − | − (32.0)* |
| 6328 | NSD1 | ped | 2 | M | 153.0 | M4 | Normal | No | Yes | FLT3/ITD | MRC15 | + | + (7.2) | − (31.8)* |
| 2176 | NSD1 | adult | 41 | M | 263.4 | M4 | Normal | NA | Yes | FLT3/ITD | HO04 | − | + (1.1) | |
| 2280 | NSD1 | adult | 49 | F | 6.1 | M2 | Normal | del 11p15 | No | WT1 | HO29 | − | + (2.0) | |
| 2305 | NSD1 | adult | 27 | M | 58.0 | M5 | Normal | No | No | FLT3/ITD + WT1 | HO29 | + | + (11.5) | − (92.3)* |
| 4333 | NSD1 | adult | 31 | M | 177.0 | M5 | Normal | NA | No | FLT3/ITD | HO42 | − | + (1.5) | |
| 6463 | NSD1 | adult | 63 | F | 78.0 | M5 | inv(5)(q1?2q3?4) | NA | No | FLT3/ITD | HO43 | − | + (9.2) | |
| 6714 | NSD1 | adult | 47 | F | 140.0 | M5 | Normal | NA | Yes | FLT3/ITD‡ | HO04 | + | − (19.9) | + (19.9)* |
| 6884 | NSD1 | adult | 19 | F | 126.4 | M5 | Marker§ | NA | No | FLT3/ITD‡ | HO04A | + | + (4.6) | + (8.5) |
| 7191 | NSD1 | adult | 45 | F | 131.0 | M5 | Normal | NA | No | FLT3/ITD‡ | HO42 | − | + (10.0) | |
| 11678 | NSD1 | adult | 54 | F | 49.2 | M4 | Normal | NA | Yes | FLT3/ITD | HO42A | − | + (3.8) | |
| 13983 | NSD1 | adult | 36 | M | 97.2 | M4 | Normal | NA | Yes | FLT3/ITD + WT1 | HO42A | + | + (3.6) | + (8.8) |
| 0297 | JARID1A | ped | 1 | M | 8.4 | M7 | Complex | NA | No | None | MRC12 | + | − | − (128.4) |
| 4096 | TOP1 | ped | 12 | F | 214.0 | M4 | t(11;20)(p15;q1?2) | NA | Yes | CEBPAs + WT1 | MRC12 | + | + (9.8) | + (19.0) |
| 6974 | DDX10 | adult | 32 | M | 4.9 | M6 | +8,inv(11)(p15;q22) | NA | NA | N-RAS‡ | HO29 | + | + (13.9) | + (22.3) |
| ID no. . | NUP98 parter gene . | Cohort . | Age, y . | Sex . | WBC, × 109/L . | FAB . | Cytogenetic aberration(s) . | Aberrant 5q35 or 11p15 on A-CGH or SNP-A . | Reciprocal product . | Mutations . | Therapy protocol . | CR . | Relapse (relapse-free survival in mo) . | Dead (OS in mo) . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 0506 | NSD1 | ped | 10 | M | 332.0 | M4 | Normal | No | Yes | FLT3/ITD + WT1 | MRC12 | + | − (17.2) | + (7.2)* |
| 3397 | NSD1 | ped | 15 | M | 154.4 | M5 | +8 | NA | Yes | FLT3/ITD | MRC12 | + | + (4.4) | + (5.6) |
| 3495 | NSD1 | ped | 14 | M | 57.1 | NA | Normal | dupl 11p15 | No | FLT3/ITD | MRC12 | + | + (6.3) | − (6.3)† |
| 4380 | NSD1 | ped | 4 | M | 7.4 | M4 | Normal | No | No | N-RAS + WT1 | BFM04 | + | + (7.3) | − (64.8)* |
| 4417 | NSD1 | ped | 17 | M | 189.0 | M2 | Normal | No | Yes | FLT3/ITD + WT1 | BFM04 | + | + (5.3) | + (30.2)* |
| 4432 | NSD1 | ped | 6 | M | 324.0 | M2 | Normal | No | Yes | FLT3/ITD + WT1 | BFM04 | + | + (4.9) | + (8.0) |
| 4716 | NSD1 | ped | 4 | M | 377.6 | M1 | Normal | del 11p15 | No | FLT3/ITD | MRC12 | + | + (7.9) | + (9.4) |
| 4730 | NSD1 | ped | 9 | M | 121.3 | M4 | del 9q | NA | Yes | FLT3/ITD | MRC12 | + | + (8.7) | − (14.4)* |
| 4733 | NSD1 | ped | 2 | M | 267.3 | M4 | Normal | No | Yes | FLT3/ITD | MRC12 | + | + (6.9) | + (9.9) |
| 5007 | NSD1 | ped | 14 | F | NA | NA | del 9q | NA | Yes | FLT3/ITD + WT1 | LAME | NA | NA | NA |
| 5144 | NSD1 | ped | 16 | F | 187.0 | M1 | Normal | NA | Yes | FLT3/ITD + WT1 | BFM98 | + | + (4.6) | + (8.2) |
| 5166 | NSD1 | ped | 13 | M | 226.0 | M1/2 | Normal | NA | No | FLT3/ITD | BFM04 | + | − | − (32.0)* |
| 6328 | NSD1 | ped | 2 | M | 153.0 | M4 | Normal | No | Yes | FLT3/ITD | MRC15 | + | + (7.2) | − (31.8)* |
| 2176 | NSD1 | adult | 41 | M | 263.4 | M4 | Normal | NA | Yes | FLT3/ITD | HO04 | − | + (1.1) | |
| 2280 | NSD1 | adult | 49 | F | 6.1 | M2 | Normal | del 11p15 | No | WT1 | HO29 | − | + (2.0) | |
| 2305 | NSD1 | adult | 27 | M | 58.0 | M5 | Normal | No | No | FLT3/ITD + WT1 | HO29 | + | + (11.5) | − (92.3)* |
| 4333 | NSD1 | adult | 31 | M | 177.0 | M5 | Normal | NA | No | FLT3/ITD | HO42 | − | + (1.5) | |
| 6463 | NSD1 | adult | 63 | F | 78.0 | M5 | inv(5)(q1?2q3?4) | NA | No | FLT3/ITD | HO43 | − | + (9.2) | |
| 6714 | NSD1 | adult | 47 | F | 140.0 | M5 | Normal | NA | Yes | FLT3/ITD‡ | HO04 | + | − (19.9) | + (19.9)* |
| 6884 | NSD1 | adult | 19 | F | 126.4 | M5 | Marker§ | NA | No | FLT3/ITD‡ | HO04A | + | + (4.6) | + (8.5) |
| 7191 | NSD1 | adult | 45 | F | 131.0 | M5 | Normal | NA | No | FLT3/ITD‡ | HO42 | − | + (10.0) | |
| 11678 | NSD1 | adult | 54 | F | 49.2 | M4 | Normal | NA | Yes | FLT3/ITD | HO42A | − | + (3.8) | |
| 13983 | NSD1 | adult | 36 | M | 97.2 | M4 | Normal | NA | Yes | FLT3/ITD + WT1 | HO42A | + | + (3.6) | + (8.8) |
| 0297 | JARID1A | ped | 1 | M | 8.4 | M7 | Complex | NA | No | None | MRC12 | + | − | − (128.4) |
| 4096 | TOP1 | ped | 12 | F | 214.0 | M4 | t(11;20)(p15;q1?2) | NA | Yes | CEBPAs + WT1 | MRC12 | + | + (9.8) | + (19.0) |
| 6974 | DDX10 | adult | 32 | M | 4.9 | M6 | +8,inv(11)(p15;q22) | NA | NA | N-RAS‡ | HO29 | + | + (13.9) | + (22.3) |
ped indicates pediatric; adult, adult; F, female; M, male; NA, not available; WBC, white blood cell count; FAB, French-American-British subtype; and CEBPAs, CEBPA single mutation.
These patients received an allo-SCT (0506, 5166, and 6714 in CR1 and 4380, 4417, 4730, 6328, and 2305 after relapse).
No follow-up available after relapse.
These samples were not tested for WT1 mutations due to lack of material.
Karyotype: 47,XX,+21?/46,XX.