Cellular Genotype Defines Major Forms of Childhood Leukemia: Leukemias Often Result from the Fusion of Genes Critical for Signal Transduction or Transcription
| Molecular Genetic Abnormality . | Translocation . | Biochemical Defect . | Associated Features . | Reference . |
|---|---|---|---|---|
| Chronic myelogenous leukemia | ||||
| BCR-ABL fusion (p210) | t(9; 22)(q34; q11) | Signal transduction | Myeloproliferation | 36 |
| B-cell lineage leukemia | ||||
| TEL-AML1 fusion | t(12; 21) cryptic | Transcription | Good prognosis | 50 |
| BCR-ABL fusion (p185) | t(9; 22)(q34; q11) | Signal transduction | Poor prognosis | 37 |
| E2A-PBX fusion | t(1; 19)(q23; p13) | Transcription | Pre-B phenotype, poor response to antimetabolites | 66 |
| MLL-AFX1 fusion | t(x; 11)(q13; q23) | Transcription | 67 | |
| MLL-AF4 fusion | t(4; 11)(q21; q23) | Transcription | Mixed lineage, infants, poor prognosis | 39, 40, 45 |
| MLL-ENL fusion | t(11; 19)(q23; p13) | Transcription | Hyperleukocytosis | 38 |
| IGH-MYC fusion | t(8; 14)(q24; q32) | Transcription | FAB L3, extramedullary disease | 68 |
| IGκ-MYC fusion | t(2; 8)(p12; q24) | Transcription | FAB L3, extramedullary disease | 68 |
| IGλ-MYC fusion | t(8; 22)(q24; q11) | Transcription | FAB L3, extramedullary disease | 68 |
| Hyperdiploidy | None | Unknown | Good prognosis | 49 |
| T-cell lineage leukemia | ||||
| TAL1 deletion | None | Transcription | Extramedullary disease, CD2+, CD10− | 69 |
| TCRδ-TAL1 fusion | t(1; 14)(p32; q11) | Transcription | Extramedullary disease, CD2+, CD10− | 69 |
| TCRβ-TAL1 fusion | t(1; 7)(p32; q35) | Transcription | Extramedullary disease, CD2+, CD10− | 69 |
| TCRα-MYC fusion | t(8; 14)(q24; q11) | Transcription | Extramedullary disease | 70 |
| TCRδ-RBTN1 fusion | t(11; 14)(p15; q11) | Transcription | Extramedullary disease | 71 |
| TCRδ-RBTN2 fusion | t(11; 14)(p13; q11) | Transcription | Extramedullary disease | 71 |
| TCRδ-HOX11 fusion | t(10; 14)(q24; q11) | Transcription | Extramedullary disease | 72 |
| TCRβ-LCK fusion | t(1; 7)(p34; q34) | Signal transduction | Extramedullary disease | 73 |
| Acute myelogenous leukemia | ||||
| AML 1-ETO fusion | t(8; 21)(q22; q22) | Transcription | FAB M2 | 41 |
| CBFβ-MYH11 fusion | inv(16)(p13; q22) | Transcription | FAB M4EO | 74 |
| DEK-CAN fusion | t(6; 9)(p23; q34) | Transcription | Basophilia | 75 |
| MLL-AF1p fusion | t(1; 11)(p32; q23) | Transcription | 76 | |
| MLL-AF1q fusion | t(1; 11)(q21; q23) | Transcription | FAB M4-M5, infants | 77 |
| MLL-AF6 fusion | t(6; 11)(q27; q23) | Transcription | 78 | |
| MLL-AF9 fusion | t(9; 11)(p22; q23) | Transcription | FAB M4, M5, infants | 79 |
| MLL-AF10 fusion | t(10; 11)(p12; q23) | Transcription | FAB M5 | 80 |
| MLL-AF17 fusion | t(11; 17)(q23; q21) | Transcription | 81 | |
| MLL-CBP fusion | t(11; 16)(q23; p13) | Transcription | FAB M4, M5, infants | 82 |
| MLL-EEN fusion | t(11; 19)(q23; p13) | Transcription | Infants | 83 |
| MLL-ENL fusion, MLL-ELL fusion | t(11; 19)(q23; p13) | Transcription | Myelodysplastic syndrome | 38, 84 |
| MLL-MLL fusion | None | Transcription | FAB M4, M5 | 85 |
| MOZ-CBP fusion | t(8; 16)(p11; p13) | Chromatin acetylation/Transcription | FAB M4, M5 | 86 |
| NUP98-HOXA9 fusion | t(7; 11)(p15; p15) | ? Activate HOXA9 | FAB M2, M4 | 87 |
| NPM-MLF 1 fusion | t(3; 5)(q25; q34) | Abnormal traffic | Myelodysplastic syndrome | 88 |
| PML-RARα fusion | t(15; 17)(q22; q21) | Retinoic acid response | FAB M3, coagulopathy | 42 |
| Molecular Genetic Abnormality . | Translocation . | Biochemical Defect . | Associated Features . | Reference . |
|---|---|---|---|---|
| Chronic myelogenous leukemia | ||||
| BCR-ABL fusion (p210) | t(9; 22)(q34; q11) | Signal transduction | Myeloproliferation | 36 |
| B-cell lineage leukemia | ||||
| TEL-AML1 fusion | t(12; 21) cryptic | Transcription | Good prognosis | 50 |
| BCR-ABL fusion (p185) | t(9; 22)(q34; q11) | Signal transduction | Poor prognosis | 37 |
| E2A-PBX fusion | t(1; 19)(q23; p13) | Transcription | Pre-B phenotype, poor response to antimetabolites | 66 |
| MLL-AFX1 fusion | t(x; 11)(q13; q23) | Transcription | 67 | |
| MLL-AF4 fusion | t(4; 11)(q21; q23) | Transcription | Mixed lineage, infants, poor prognosis | 39, 40, 45 |
| MLL-ENL fusion | t(11; 19)(q23; p13) | Transcription | Hyperleukocytosis | 38 |
| IGH-MYC fusion | t(8; 14)(q24; q32) | Transcription | FAB L3, extramedullary disease | 68 |
| IGκ-MYC fusion | t(2; 8)(p12; q24) | Transcription | FAB L3, extramedullary disease | 68 |
| IGλ-MYC fusion | t(8; 22)(q24; q11) | Transcription | FAB L3, extramedullary disease | 68 |
| Hyperdiploidy | None | Unknown | Good prognosis | 49 |
| T-cell lineage leukemia | ||||
| TAL1 deletion | None | Transcription | Extramedullary disease, CD2+, CD10− | 69 |
| TCRδ-TAL1 fusion | t(1; 14)(p32; q11) | Transcription | Extramedullary disease, CD2+, CD10− | 69 |
| TCRβ-TAL1 fusion | t(1; 7)(p32; q35) | Transcription | Extramedullary disease, CD2+, CD10− | 69 |
| TCRα-MYC fusion | t(8; 14)(q24; q11) | Transcription | Extramedullary disease | 70 |
| TCRδ-RBTN1 fusion | t(11; 14)(p15; q11) | Transcription | Extramedullary disease | 71 |
| TCRδ-RBTN2 fusion | t(11; 14)(p13; q11) | Transcription | Extramedullary disease | 71 |
| TCRδ-HOX11 fusion | t(10; 14)(q24; q11) | Transcription | Extramedullary disease | 72 |
| TCRβ-LCK fusion | t(1; 7)(p34; q34) | Signal transduction | Extramedullary disease | 73 |
| Acute myelogenous leukemia | ||||
| AML 1-ETO fusion | t(8; 21)(q22; q22) | Transcription | FAB M2 | 41 |
| CBFβ-MYH11 fusion | inv(16)(p13; q22) | Transcription | FAB M4EO | 74 |
| DEK-CAN fusion | t(6; 9)(p23; q34) | Transcription | Basophilia | 75 |
| MLL-AF1p fusion | t(1; 11)(p32; q23) | Transcription | 76 | |
| MLL-AF1q fusion | t(1; 11)(q21; q23) | Transcription | FAB M4-M5, infants | 77 |
| MLL-AF6 fusion | t(6; 11)(q27; q23) | Transcription | 78 | |
| MLL-AF9 fusion | t(9; 11)(p22; q23) | Transcription | FAB M4, M5, infants | 79 |
| MLL-AF10 fusion | t(10; 11)(p12; q23) | Transcription | FAB M5 | 80 |
| MLL-AF17 fusion | t(11; 17)(q23; q21) | Transcription | 81 | |
| MLL-CBP fusion | t(11; 16)(q23; p13) | Transcription | FAB M4, M5, infants | 82 |
| MLL-EEN fusion | t(11; 19)(q23; p13) | Transcription | Infants | 83 |
| MLL-ENL fusion, MLL-ELL fusion | t(11; 19)(q23; p13) | Transcription | Myelodysplastic syndrome | 38, 84 |
| MLL-MLL fusion | None | Transcription | FAB M4, M5 | 85 |
| MOZ-CBP fusion | t(8; 16)(p11; p13) | Chromatin acetylation/Transcription | FAB M4, M5 | 86 |
| NUP98-HOXA9 fusion | t(7; 11)(p15; p15) | ? Activate HOXA9 | FAB M2, M4 | 87 |
| NPM-MLF 1 fusion | t(3; 5)(q25; q34) | Abnormal traffic | Myelodysplastic syndrome | 88 |
| PML-RARα fusion | t(15; 17)(q22; q21) | Retinoic acid response | FAB M3, coagulopathy | 42 |