Table 1. Mutations in the IL7R and its downstream activated molecules in 71 out of 146 pediatric T-ALL patients.
| Pt # | Oncogene | Subtype | IL7R | JAK1 | JAK3 | STAT5B | N-RAS | K-RAS | NF1 | PTEN | AKT | NOTCH/ FBXW7 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Non-cysteine mutations | ||||||||||||
| 1 | MLL | nd | V253WN | — | — | — | — | — | — | — | — | |
| 2 | ETP-ALL | V253GPSL | — | — | — | — | — | — | — | PEST | ||
| Cysteine mutations | ||||||||||||
| 3 | TLX3 | nd | IL241-242CLEG | — | — | — | — | — | — | — | HD/PEST | |
| 4 | TLX3 | TLX | PILLT240-244RFCPH | — | — | — | A146T | — | — | — | HD | |
| 5 | TLX3 | TLX | PILLTIS240-246LKC | — | — | — | — | A146T | — | — | — | |
| 6 | TLX3 | TLX | LLT242-244FHPFNCGP | — | — | — | G12D | — | — | — | HD | |
| 7 | HOXA | TLX | L243RLECV | — | — | — | — | — | — | — | PEST | |
| 8 | HOXA | nd | LL242-L243FPHQHC | — | — | — | — | — | — | — | FBXW7 | |
| 9 | SET-NUP214 | TLX | LLTIS242-246PQGGC | — | — | — | — | — | — | — | HD/FBXW7 | |
| 10 | nd | PIL240-242QSPSC | — | — | — | — | — | — | — | HD | ||
| 11 | TLX | LT243-244LMCPT | — | — | — | — | — | — | — | JM | ||
| 12 | TALLMO | PILLTIS240-S246LQSC | — | — | — | — | — | — | — | — | ||
| 13 | TLX3 | TLX | — | E668Q | — | — | nd | nd | Del/333dupA | — | — | HD/FBXW7 |
| 14 | LYL1/LMO2 | TALLMO | — | L624YPILKV | — | — | — | — | — | — | JM/PEST | |
| 15 | Proliferative | — | V427M | — | — | — | — | — | — | HD/PEST | ||
| 16 | CALM-AF10 | nd | — | P815S | — | — | — | — | — | — | HD/PEST | |
| 17 | RUNX1-AFF3 | ETP-ALL | — | T901G | M511I | — | — | — | — | — | PEST | |
| 18 | ETP-ALL | — | R724H | M511I | — | G12D | — | — | — | PEST | ||
| 19 | ETP-ALL | — | — | M511I | — | nd | nd | Del/- | — | — | PEST | |
| 20 | TLX3 | TLX | — | — | M511I | — | — | — | — | — | JM | |
| 21 | CALM-AF10 | TLX | — | — | R657Q | — | — | — | — | — | HD/PEST | |
| 22 | TLX3 | TLX | — | — | R657Q | — | nd | nd | — | — | ND | |
| 23 | TLX1 | TLX | — | — | — | N642H | — | — | — | — | — | |
| 24 | TLX1 | TLX | — | — | — | N642H | — | — | nd | — | nd | |
| 25 | LMO2 | nd | — | — | — | N642H | — | — | — | — | PEST | |
| 26 | SIL-TAL1 | TALLMO | — | — | — | N642H | — | — | — | — | HD | |
| 27 | TLX3 | TLX | — | — | — | — | G12D | — | — | — | — | |
| 28 | TLX3 | TLX | — | — | — | — | G12V | — | — | — | HD | |
| 29 | TLX3 | nd | — | — | — | — | G12C | — | — | — | HD/FBXW7 | |
| 30 | TLX3 | nd | — | — | — | — | G13V | — | — | — | HD/FBXW7 | |
| 31 | CALM-AF10 | ETP-ALL | — | — | — | N642H | G12D | — | — | — | — | |
| 32 | SIL-TAL1 | nd | — | — | — | — | G13C | — | Mut/Del | — | — | |
| 33 | NKX2-5 | ETP-ALL | — | — | — | — | G13D | — | Mut/Mut/Subcl. Del | — | HD | |
| 34 | TALLMO | — | — | — | — | G12R | — | — | — | FBXW7 | ||
| 35 | TAL2 | TALLMO | — | — | — | — | — | G12D | no protein | — | FBXW7 | |
| 36 | LMO2 | TALLMO | — | — | — | — | — | G12D | — | — | — | |
| 37 | TLX3 | TLX | — | — | — | — | — | Q61R | — | — | HD/FBXW7 | |
| 38 | MEF2C | ETP-ALL | — | — | — | — | — | Q61L | — | — | HD/PEST | |
| 39 | CALM-AF10 | ETP-ALL | — | — | — | — | nd | nd | Del/3734delCinsGGTTTATGGTTT | — | — | — |
| 40 | nd | — | — | — | — | — | G12D | — | — | HD | ||
| 41 | TLX3 | TLX | — | — | — | — | — | A146T | — | — | PEST | |
| 42 | TLX3 | TLX | — | — | — | — | — | A146T | — | — | HD | |
| 43 | LMO2 | TALLMO | — | — | — | — | — | A146T | — | — | HD/FBXW7 | |
| 44 | SIL-TAL1 | TALLMO | — | — | — | — | — | — | Subcl. Del/— | — | HD/PEST | |
| 45 | SIL-TAL1 | TALLMO | — | — | — | — | — | — | Mut/Mut | — | — | |
| 46 | SIL-TAL1 | TALLMO | — | — | — | — | — | — | Del/— | — | HD | |
| 47 | SIL-TAL1 | TALLMO | — | — | — | — | — | — | Subcl. Del/— | — | — | |
| 48 | SIL-TAL1 | TALLMO | — | — | — | — | — | — | Subcl. Mut/— | — | — | |
| 49 | SIL-TAL1 | TALLMO | — | — | — | — | — | A146T | Del/Del | — | — | |
| 50 | SIL-TAL1 | TALLMO | — | — | — | — | — | — | Del/Subcl. Del | — | — | |
| 51 | SIL-TAL1 | TALLMO | — | — | — | — | — | — | Del/Subcl. Del | — | — | |
| 52 | SIL-TAL1 | TALLMO | — | — | — | — | — | — | Mut/Mut | — | — | |
| 53 | LMO3 | TALLMO | — | — | — | — | — | — | Mut/Mut | — | — | |
| 54 | LMO2 | TALLMO | — | — | — | — | — | — | Mut/Mut | — | FBXW7 | |
| 55 | TALLMO | — | — | — | — | — | — | Mut/Mut | — | HD | ||
| 56 | TALLMO | — | — | — | — | — | — | Mut/Mut | — | — | ||
| 57 | TALLMO | — | — | — | — | — | — | Subcl. Del/— | — | — | ||
| 58 | TALLMO | — | — | — | — | — | — | Mut/Subcl. Del | — | — | ||
| 59 | TALLMO | — | — | — | — | — | — | Mut/Subcl. Del | — | — | ||
| 60 | NKX2—1 | Proliferative | — | — | — | — | — | — | Mut/— | — | HD/FBXW7 | |
| 61 | TAL1 | Proliferative | — | — | — | — | — | — | no protein | — | HD | |
| 62 | SIL-TAL1 | Proliferative | — | — | — | — | — | — | Mut/Mut | — | — | |
| 63 | SIL-TAL1 | Proliferative | — | — | — | — | nd | — | Mut/Mut | — | PEST | |
| 64 | ETP-ALL | — | — | — | — | — | nd | Del/— | — | PEST | ||
| 65 | MYC | nd | — | — | — | — | — | — | Mut/Del | — | — | |
| 66 | LMO2 | nd | — | — | — | — | — | — | Mut/Mut/Subcl. Del | — | PEST | |
| 67 | nd | — | — | — | — | — | — | Del/— | — | — | ||
| 68 | nd | — | — | — | — | — | — | Mut/Del | — | — | ||
| 69 | TLX1 | Proliferative | — | — | — | — | — | — | — | E17K | — | |
| 70 | TLX3 | Proliferative | — | — | — | — | — | — | — | E17K | FBXW7 | |
| 71 | LMO1 | TALLMO | — | — | — | — | — | — | — | E17K | — |
Abbreviations: nd, not done; T-ALL, T-cell acute lymphoblastic leukemia; —, tested negative. From a cohort of 146 screened pediatric T-ALL patients, 71 are listed with mutations in at least one of the following genes: IL7Ra, JAK1, JAK3, STAT5B, N-RAS, K-RAS, NF1, PTEN and AKT. The NOTCH/FBXW7 mutational status is listed in the last column.