Table 2.
Frequencies of NOTCH1 or FBXW7 alterations detected at diagnosis of T‐ALL
| Non–relapsed cases (%) n = 18 | Relapsed cases (%) n = 12 | P‐value | References | |
|---|---|---|---|---|
| LIA, ligand–independent activation. | ||||
| NOTCH1 HD domain non–synonymous mutation (HD‐SNV) | 8 (44.4) | 4 (33.3)a | .71 | 10 |
| NOTCH1 HD domain non–frameshift indel (Indel) | 1 (5.6) | 2 (16.7)c | .55 | 10 |
| NOTCH1 internal duplication (Dup) | 0 (0) | 1 (8.3)c | .4 | 13 |
| Deletion in extracellular domains of NOTCH1 (Del‐N) | 1 (5.6) | 0 (0) | — | 14, 15 |
| NOTCH1 fusion (Fusion) | 0 (0) | 0 (0) | — | 16 |
| Impaired degradation: ID | ||||
| NOTCH1 PEST domain truncation (PEST) | 3 (16.7)b | 7 (58.3) | .045 | 10 |
| NOTCH1 3′UTR region mutation (UTR) | 0 (0) | 1 (8.3)a | — | 17 |
| FBXW7 mutation (FBXW7) | 5 (27.8) | 1 (8.3)c | .35 | 11, 12 |
a
All cases had PEST as well.
b
All cases had HD‐SNV as well.
c
No cases had PEST additionally.