Nonrandom Structural Chromosomal Aberrations in Adult ALL
| Chromosome Aberration . | Involved Genes . | Protein Product . | Function of Protein Product . | Frequency . | Phenotype . | FAB-Morphology . | References . |
|---|---|---|---|---|---|---|---|
| del(6q) | ? | ? | ? | <5% | B- or T-lineage | L1, L2 | 6, 7, 10, 18, 25, 28, 33, 240-247 |
| i(6p) | ? | ? | ? | <5% | 34, 248-251 | ||
| i(7q) | ? | ? | ? | <5% | 34, 248-252 | ||
| 7q32-35 | TCR-β | <5% | T-lineage | L1 > L2 | 6, 7, 157, 168-193 | ||
| t(1;7)(p32;q35) | TAL1/TCR-β | Basic HLH protein | Transcription factor | ||||
| t(1;7)(p34;q34) | LCK/TCR-β | Protein kinase | Signal transduction | ||||
| t(1;7)(q11-21; q35-36) | ? | ? | ? | ||||
| t(7;9)(q34;q32) | TAL2/TCR-β | Basic HLH protein | Transcription factor | ||||
| t(7;9)(q34;p34) | TAN1/TCR-β | Drosophila notch | Signal transduction | ||||
| Homologue | |||||||
| t(7;10)(q35;q24) | RHOM2/RCR-β | LIM domain protein | Transcription factor | ||||
| t(7;11)(q35;p13) | RHOM2/TCR-β | LIM domain protein | Transcription factor | ||||
| LYL1/TCR-β | Basic HLH protein | Transcription factor | |||||
| 8q24 | c-myc | Basic HLH protein | Transcription factor | <3-5% | B | L3 | 5-8, 18, 25, 33, 34, 36, 37, 151, 171, 194-208 |
| t(2;8)(p12;q24) | lgκ/c-myc | ||||||
| t(8;14)(q24;q32) | c-myc/lgH | ||||||
| t(8;22)(q24;q11) | c-myclgλ | ||||||
| i(9q) | ? | ? | ? | <5% | Pre-B | L2 | 34, 248-251 |
| t(9;22)(q34;q11) | BCR, ABL e1a2 b2a2/b3a2 e19a2 | p190 p210 p230 | Increased tyrosine kinase activity (? p23) | 20-30% | Pre-B | L1, L2 | 7, 8, 36, 54, 59-87 |
| del(9q)(p21-22) | MTS1/MTS2 | p16INK4A/p15INK4B | Cyclin-dependent kinase inhibitors | 7-15% | B- or T-lineage | L1, L2 | 7, 92-119 |
| t/dic(9;12)(p11-12; p11-13) | ? | ? | ? | <5% | Early-pre-B or pre-B | L1, L2 | 22, 34, 120-123 |
| 11q23 t(1;11)(p32;q23) t(4;11)(q21;q23) t(10;11)(p12-14; q14-23) t(11;19)(q23; p13) | MLL (HRX, ALL-1, HTRX-1) AF1P/MLL AF4/MLL AF10/MLL MLL/ENL | MLL fusion proteins with conservation of 5′-N-terminal sequences including AT-hook and DNA-methyltransferase regions | Probably involved in transcriptional regulation | 3-10% | Early-pre-B T-lineage biphenotypic | L1 L1, L2 L2 L1, ,L2 | 7, 9, 18, 33, 90, 124-143 |
| 12q t(9;12)(q34;p13) t(12;21)(p11-12; q22) | TEL (ETV6) ABL/TEL TEL/AML1 | HLH protein tyrosine kinase runt/transactivating domain | Phosphorylation Transcription regulation | 3-4% | pre-B | L1, L2 | 7, 10, 24, 209-239 |
| 14q11 | TCR-α/δ | T-lineage | L1 > L2 | 6, 7, 157, 168-193 | |||
| t(1;14)(p32-34;q11) | TAL1/TCR-δ | Basic HLH protein | Transcription factor | ∼20% | |||
| t(5;14)(p15;q11) | ? | ? | ? | ? | |||
| t(8;14)(q24;q11) | c-MYC/TCR-α | Basic HLH protein | Transcription factor | <1% | |||
| t(10;14)(q24;q11) | HOX11/TCR-δ | Homeodomain protein | Transcription factor | 3-7% | |||
| t(11;14)(p13;q11) | RHOM2/TCR-δ | LIM domain protein | Transcription factor | 5-7% | |||
| t(11;14)(p15;q11) | RHOM1/TCR-δ | LIM domain protein | Transcription factor | <1% | |||
| inv(14)(q11;q32.1) | TCL1/TCR-α | ? | ? | <1% | |||
| inv(14)(q11;q32.3) | IgH/TCR-α/δ | Ig | ? | <1% | |||
| i(17q) | ? | ? | ? | 7-9% | Pre-B | 34, 248-251, 253 | |
| 19q13 t(1;19)(q23;p13) t(17;19)(q22;p13) | E2A PBX1/E2A HLF/E2A | Fusion proteins with preservation of E2A activation domains | Transcription factor | <5% | Pre-B Pre-B | L1 L1 | 7, 8, 15, 29, 33, 34, 90, 145-166 |
| i(21)q | ? | ? | ? | <5% | B-lineage | 34, 248-251 |
| Chromosome Aberration . | Involved Genes . | Protein Product . | Function of Protein Product . | Frequency . | Phenotype . | FAB-Morphology . | References . |
|---|---|---|---|---|---|---|---|
| del(6q) | ? | ? | ? | <5% | B- or T-lineage | L1, L2 | 6, 7, 10, 18, 25, 28, 33, 240-247 |
| i(6p) | ? | ? | ? | <5% | 34, 248-251 | ||
| i(7q) | ? | ? | ? | <5% | 34, 248-252 | ||
| 7q32-35 | TCR-β | <5% | T-lineage | L1 > L2 | 6, 7, 157, 168-193 | ||
| t(1;7)(p32;q35) | TAL1/TCR-β | Basic HLH protein | Transcription factor | ||||
| t(1;7)(p34;q34) | LCK/TCR-β | Protein kinase | Signal transduction | ||||
| t(1;7)(q11-21; q35-36) | ? | ? | ? | ||||
| t(7;9)(q34;q32) | TAL2/TCR-β | Basic HLH protein | Transcription factor | ||||
| t(7;9)(q34;p34) | TAN1/TCR-β | Drosophila notch | Signal transduction | ||||
| Homologue | |||||||
| t(7;10)(q35;q24) | RHOM2/RCR-β | LIM domain protein | Transcription factor | ||||
| t(7;11)(q35;p13) | RHOM2/TCR-β | LIM domain protein | Transcription factor | ||||
| LYL1/TCR-β | Basic HLH protein | Transcription factor | |||||
| 8q24 | c-myc | Basic HLH protein | Transcription factor | <3-5% | B | L3 | 5-8, 18, 25, 33, 34, 36, 37, 151, 171, 194-208 |
| t(2;8)(p12;q24) | lgκ/c-myc | ||||||
| t(8;14)(q24;q32) | c-myc/lgH | ||||||
| t(8;22)(q24;q11) | c-myclgλ | ||||||
| i(9q) | ? | ? | ? | <5% | Pre-B | L2 | 34, 248-251 |
| t(9;22)(q34;q11) | BCR, ABL e1a2 b2a2/b3a2 e19a2 | p190 p210 p230 | Increased tyrosine kinase activity (? p23) | 20-30% | Pre-B | L1, L2 | 7, 8, 36, 54, 59-87 |
| del(9q)(p21-22) | MTS1/MTS2 | p16INK4A/p15INK4B | Cyclin-dependent kinase inhibitors | 7-15% | B- or T-lineage | L1, L2 | 7, 92-119 |
| t/dic(9;12)(p11-12; p11-13) | ? | ? | ? | <5% | Early-pre-B or pre-B | L1, L2 | 22, 34, 120-123 |
| 11q23 t(1;11)(p32;q23) t(4;11)(q21;q23) t(10;11)(p12-14; q14-23) t(11;19)(q23; p13) | MLL (HRX, ALL-1, HTRX-1) AF1P/MLL AF4/MLL AF10/MLL MLL/ENL | MLL fusion proteins with conservation of 5′-N-terminal sequences including AT-hook and DNA-methyltransferase regions | Probably involved in transcriptional regulation | 3-10% | Early-pre-B T-lineage biphenotypic | L1 L1, L2 L2 L1, ,L2 | 7, 9, 18, 33, 90, 124-143 |
| 12q t(9;12)(q34;p13) t(12;21)(p11-12; q22) | TEL (ETV6) ABL/TEL TEL/AML1 | HLH protein tyrosine kinase runt/transactivating domain | Phosphorylation Transcription regulation | 3-4% | pre-B | L1, L2 | 7, 10, 24, 209-239 |
| 14q11 | TCR-α/δ | T-lineage | L1 > L2 | 6, 7, 157, 168-193 | |||
| t(1;14)(p32-34;q11) | TAL1/TCR-δ | Basic HLH protein | Transcription factor | ∼20% | |||
| t(5;14)(p15;q11) | ? | ? | ? | ? | |||
| t(8;14)(q24;q11) | c-MYC/TCR-α | Basic HLH protein | Transcription factor | <1% | |||
| t(10;14)(q24;q11) | HOX11/TCR-δ | Homeodomain protein | Transcription factor | 3-7% | |||
| t(11;14)(p13;q11) | RHOM2/TCR-δ | LIM domain protein | Transcription factor | 5-7% | |||
| t(11;14)(p15;q11) | RHOM1/TCR-δ | LIM domain protein | Transcription factor | <1% | |||
| inv(14)(q11;q32.1) | TCL1/TCR-α | ? | ? | <1% | |||
| inv(14)(q11;q32.3) | IgH/TCR-α/δ | Ig | ? | <1% | |||
| i(17q) | ? | ? | ? | 7-9% | Pre-B | 34, 248-251, 253 | |
| 19q13 t(1;19)(q23;p13) t(17;19)(q22;p13) | E2A PBX1/E2A HLF/E2A | Fusion proteins with preservation of E2A activation domains | Transcription factor | <5% | Pre-B Pre-B | L1 L1 | 7, 8, 15, 29, 33, 34, 90, 145-166 |
| i(21)q | ? | ? | ? | <5% | B-lineage | 34, 248-251 |