Table 3.
Genes commonly mutated in acute lymphoblastic leukemia
| Disease* | Gene | Function | Approximate Frequency %† |
References | Comments |
|---|---|---|---|---|---|
| B-ALL and T-ALL | CDKN2A/2B | Cell cycle modulator | 30 and 70 | Mullighan and Downing [3] | deletions |
| deletions, deletions in T-ALL are large and typically | |||||
| B-ALL and T-ALL | PAX5 | B-cell differentiation | 30 and 10 | Mullighan and Downing [3] | include CDKN2A |
| B-ALL and T-ALL | EBF | B-cell differentiation | 4 and 6 | Mullighan and Downing [3] | deletions |
| B-ALL and T-ALL | RB1 | Cell cycle modulator | 4 and 12 | Mullighan and Downing [3] | deletions |
| T-ALL | NOTCH1 | T-cell differentiation | 56 | Weng et al. [93] Sulis et al. [94] | Activating HD and PEST domain mutations |
| B-ALL | ETV6 | Transcription factor | 26 | Mullighan and Downing[3] | deletions, also frequently involved on translocations |
| B-ALL | NRAS | Ras pathway | 17 | Case et al. [88] | activating point mutation codons 12, 13, 61 |
| B-ALL | KRAS | Ras pathway | 16 | Case et al. [88] | activating point mutation codons 12, 13, 61 |
| 84% of BCR-ABL1 ALL; complete or partial | |||||
| B-ALL | IKZF1 | B-cell differentiation | 8 | Mullighan and Downing [3] | deletions |
| B-ALL | PTPN11 | Ras pathway | 7 | Tartaglia et al. [91] | activating point mutations Exons 3 and 13 |
| B-ALL | E2-2 | B-cell differentiation | 6 | Kuiper et al. [85] | deletions |
| activating ITD or point mutations, 15% of MLL ALL | |||||
| B-ALL | FLT3 | Ras pathway | 3 | Case et al. [88]; Armstrong et al. [85] | rearranged |
*
B-ALL includes precursor B-ALL
†
Frequencies only approximate due to variation in sample size and sample selection in different studies