Chromosomal rearrangements resulting in ectopic expression of transcription factors or the generation of fusion genes with transcriptional/epigenetic activity
| Chromosomal rearrangement or mutation . | Partner gene 1 (oncogene) . | Chromosome location . | Partner gene 2 . | Chromosome location . | Consequence of the rearrangement/mutation . |
|---|---|---|---|---|---|
| Major transcription factors | |||||
| del(1)(p32p32) | TAL1 | 1p32 | STIL | 1p32 | Ectopic TAL1 expression driven by STIL promoter |
| t(1;14)(p32;q11) | TCRα | 14q11 | Ectopic TAL1 expression driven by TCR enhancer | ||
| t(1;14)(p32;q11) | TCRδ | 14q11 | Ectopic TAL1 expression driven by TCR enhancer | ||
| Small insertion | — | — | Ectopic TAL1 expression driven by de novo enhancer | ||
| t(10;14)(q24;q11) | TLX1 | 10q24 | TCRα | 14q11 | Ectopic TLX1 expression driven by TCR enhancer |
| t(7;10)(q34;q24) | TCRβ | 7q34 | Ectopic TLX1 expression driven by TCR enhancer | ||
| t(10;14)(q24;q11) | TCRδ | 14q11 | Ectopic TLX1 expression driven by TCR enhancer | ||
| t(5;14)(q35;q11) | TLX3 | 5q35 | TCRδ | 14q11 | Ectopic TLX3 expression driven by TCR enhancer |
| t(5;14)(q35;q32) | BCL11B | 14q32 | Ectopic TLX3 expression driven by BCL11B | ||
| inv(7)(p15;q34) | HOXA9/HOXA10 | 7p15 | TCRβ | 7q34 | Ectopic expression of HOXA genes, predominantly HOXA9 and HOXA10, driven by TCR enhancer |
| t(10;11)(p13;q14) | PICALM (CALM) | 11q14 | MLLT10 (AF10) | 10p13 | PICALM-MLLT10 fusion transcript, resulting in upregulation of HOXA genes |
| del(9)(q34;q34) | SET | 9q34 | NUP214 | 9q34 | SET-NUP214 fusion transcript, resulting in upregulation of HOXA genes |
| inv(14)(q11;q13) | NKX2-1 | 14q13 | TCRα | 14q11 | Ectopic NKX2-1 expression driven by TCR enhancer |
| T(14;20)(q11;p11) | NKX2-2 | 20p11 | TCRδ | 14q11 | Ectopic NKX2-2 expression driven by TCR enhancer |
| t(11;14)(p15;q11) | LMO1 | 11p15 | TCRα | 14q11 | Ectopic LMO1 expression, mostly together with LYL1 or TAL1 expression |
| TCRδ | 14q11 | ||||
| t(11;14)(p13;q11) | LMO2 | 11p13 | TCRα | 14q11 | Ectopic LMO2 expression, mostly together with LYL1 or TAL1 expression |
| TCRδ | 14q11 | ||||
| del(5)(q14;q14) | MEF2C | 5q14 | — | — | Small deletions close to MEF2C leading to upregulation of MEF2C expression |
| t(7;19)(q34;p13) | LYL1 | 19p13 | TCRβ | 7q34 | Ectopic expression of LYL1 driven by TCR enhancer |
| t(11;14)(p11;q32) | SPI1 | 11p11 | BCL11B | 14q32 | Ectopic expression of SPI1 driven by BCL11B |
| Additional transcription factor aberrations | |||||
| dup(6)(q23;q23) | MYB | 6q23 | — | — | Increased MYB expression due to extra copy of MYB |
| t(6;7)(q23;q34) | TCRβ | 7q34 | Ectopic expression of MYB driven by TCR enhancer | ||
| Various translocations | KMT2A (MLL) | 11q23 | Many different partners | KMT2A fusion genes | |
| Mutation/deletion | BCL11B | 14q32 | — | — | Inactivation of BCL11B |
| Mutation/deletion | ETV6 | 12p13 | — | — | Inactivation of ETV6 |
| Mutation/deletion | RUNX1 | 21q22 | — | — | Inactivation of RUNX1 |
| Mutation/deletion | LEF1 | 4q25 | — | — | Inactivation of LEF1 |
| Mutation/deletion | WT1 | 11p13 | — | — | Inactivation of WT1 |
| Chromosomal rearrangement or mutation . | Partner gene 1 (oncogene) . | Chromosome location . | Partner gene 2 . | Chromosome location . | Consequence of the rearrangement/mutation . |
|---|---|---|---|---|---|
| Major transcription factors | |||||
| del(1)(p32p32) | TAL1 | 1p32 | STIL | 1p32 | Ectopic TAL1 expression driven by STIL promoter |
| t(1;14)(p32;q11) | TCRα | 14q11 | Ectopic TAL1 expression driven by TCR enhancer | ||
| t(1;14)(p32;q11) | TCRδ | 14q11 | Ectopic TAL1 expression driven by TCR enhancer | ||
| Small insertion | — | — | Ectopic TAL1 expression driven by de novo enhancer | ||
| t(10;14)(q24;q11) | TLX1 | 10q24 | TCRα | 14q11 | Ectopic TLX1 expression driven by TCR enhancer |
| t(7;10)(q34;q24) | TCRβ | 7q34 | Ectopic TLX1 expression driven by TCR enhancer | ||
| t(10;14)(q24;q11) | TCRδ | 14q11 | Ectopic TLX1 expression driven by TCR enhancer | ||
| t(5;14)(q35;q11) | TLX3 | 5q35 | TCRδ | 14q11 | Ectopic TLX3 expression driven by TCR enhancer |
| t(5;14)(q35;q32) | BCL11B | 14q32 | Ectopic TLX3 expression driven by BCL11B | ||
| inv(7)(p15;q34) | HOXA9/HOXA10 | 7p15 | TCRβ | 7q34 | Ectopic expression of HOXA genes, predominantly HOXA9 and HOXA10, driven by TCR enhancer |
| t(10;11)(p13;q14) | PICALM (CALM) | 11q14 | MLLT10 (AF10) | 10p13 | PICALM-MLLT10 fusion transcript, resulting in upregulation of HOXA genes |
| del(9)(q34;q34) | SET | 9q34 | NUP214 | 9q34 | SET-NUP214 fusion transcript, resulting in upregulation of HOXA genes |
| inv(14)(q11;q13) | NKX2-1 | 14q13 | TCRα | 14q11 | Ectopic NKX2-1 expression driven by TCR enhancer |
| T(14;20)(q11;p11) | NKX2-2 | 20p11 | TCRδ | 14q11 | Ectopic NKX2-2 expression driven by TCR enhancer |
| t(11;14)(p15;q11) | LMO1 | 11p15 | TCRα | 14q11 | Ectopic LMO1 expression, mostly together with LYL1 or TAL1 expression |
| TCRδ | 14q11 | ||||
| t(11;14)(p13;q11) | LMO2 | 11p13 | TCRα | 14q11 | Ectopic LMO2 expression, mostly together with LYL1 or TAL1 expression |
| TCRδ | 14q11 | ||||
| del(5)(q14;q14) | MEF2C | 5q14 | — | — | Small deletions close to MEF2C leading to upregulation of MEF2C expression |
| t(7;19)(q34;p13) | LYL1 | 19p13 | TCRβ | 7q34 | Ectopic expression of LYL1 driven by TCR enhancer |
| t(11;14)(p11;q32) | SPI1 | 11p11 | BCL11B | 14q32 | Ectopic expression of SPI1 driven by BCL11B |
| Additional transcription factor aberrations | |||||
| dup(6)(q23;q23) | MYB | 6q23 | — | — | Increased MYB expression due to extra copy of MYB |
| t(6;7)(q23;q34) | TCRβ | 7q34 | Ectopic expression of MYB driven by TCR enhancer | ||
| Various translocations | KMT2A (MLL) | 11q23 | Many different partners | KMT2A fusion genes | |
| Mutation/deletion | BCL11B | 14q32 | — | — | Inactivation of BCL11B |
| Mutation/deletion | ETV6 | 12p13 | — | — | Inactivation of ETV6 |
| Mutation/deletion | RUNX1 | 21q22 | — | — | Inactivation of RUNX1 |
| Mutation/deletion | LEF1 | 4q25 | — | — | Inactivation of LEF1 |
| Mutation/deletion | WT1 | 11p13 | — | — | Inactivation of WT1 |
—, not applicable.