Clinical characteristics and genetic lesions of ETP-ALL samples
| Sample no. . | ID, USI/SJCRH . | Age (years) . | Gender . | WBC (×109/L) . | Genetic lesions . |
|---|---|---|---|---|---|
| ETP1 | PARIKN | 8 | M | 66.1 | CTCF SV, DNM2 K557_K558 > K, JAK3 M511I, WT1 R370fs |
| ETP5 | PARXNE | 15 | M | 41.8 | PTPN11 A72V |
| ETP8 | PASKMG | 19 | F | 73 | ECT2L E12_splice and W440G, GATA3 A310_A314 > A, R276Q, JAK1 E1012 > EK, SH2B3 V65A, I257T |
| ETP12 | SJTALL165 | 16 | M | 251 | EZH2 S651L, RUNX1 T148fs, NOTCH1 S2492*, IKZF1 SV, PHF6 N147fs, SUZ12 C350R, WT1 C350R L564_S568, SH2B3 SV |
| ETP13 | SJTALL004 | 3 | M | 21.5 | EED S259F |
| ETP14 | SJTALL010 | 14 | M | 58.1 | GATA3 N286T and S271_W275fs, JAK1 S703I, PTEN SV, RB1 SV, CDKN2A/B SV |
| Sample no. . | ID, USI/SJCRH . | Age (years) . | Gender . | WBC (×109/L) . | Genetic lesions . |
|---|---|---|---|---|---|
| ETP1 | PARIKN | 8 | M | 66.1 | CTCF SV, DNM2 K557_K558 > K, JAK3 M511I, WT1 R370fs |
| ETP5 | PARXNE | 15 | M | 41.8 | PTPN11 A72V |
| ETP8 | PASKMG | 19 | F | 73 | ECT2L E12_splice and W440G, GATA3 A310_A314 > A, R276Q, JAK1 E1012 > EK, SH2B3 V65A, I257T |
| ETP12 | SJTALL165 | 16 | M | 251 | EZH2 S651L, RUNX1 T148fs, NOTCH1 S2492*, IKZF1 SV, PHF6 N147fs, SUZ12 C350R, WT1 C350R L564_S568, SH2B3 SV |
| ETP13 | SJTALL004 | 3 | M | 21.5 | EED S259F |
| ETP14 | SJTALL010 | 14 | M | 58.1 | GATA3 N286T and S271_W275fs, JAK1 S703I, PTEN SV, RB1 SV, CDKN2A/B SV |
Samples with lesions predicted to activate JAK1 or JAK2, the 2 JAK kinases inhibited by ruxolitinib, are shown in bold. ETP12 has a lesion in SH2B3, which encodes LNK, a negative regulator of JAK2. del, deletion; F, female; M, male; m, mutation; SV, structural variation; USI, unique specimen identifier; WBC, white blood cell count.