Clinical, hematologic, and molecular-cytogenetic features of T-ALL with MYC translocations
| No. . | Sex . | Age, y . | WBC mmc . | Phenotype . | Treatment . | Relapse . | Status . | Follow-up, mo . | Karyotype . | FISH . | Category* . | PTEN . | NOTCH1/ FBX7 . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Children | |||||||||||||
| 1 | M | 14 | 235.600 | Early | AIEOP, IR | No | Alive | 107 | 46,XY,t(1;8)(q32;q24),del(4)(p15)[13] | MYC translocation (85%) | TAL/LMO | wt | wt/wt |
| del(4)(q25)/LEF1 | |||||||||||||
| del(9)(p21)/CDKN2A/B | |||||||||||||
| del(10)(q23)/PTEN | |||||||||||||
| 2 | F | 12 | 43.800 | Cortical | AIEOP, SR | Yes | Died | 13 | 46,XX,t(8;14)(q24;q11)[3] | TCRAD-MYC (60%) | TAL/LMO | mut | wt/wt |
| 48,idem,+6, +7[7] | del(9)(p21)/CDKN2A.B | ||||||||||||
| Trisomy 6 | |||||||||||||
| Trisomy 7 | |||||||||||||
| 3 | M | 10 | 754.800 | Mature | AIEOP, HR | Yes | Died | 24 | n.a. | SIL-TAL1 | TAL/LMO | mut | wt/wt |
| MYC translocation (70%) | |||||||||||||
| 4† | M | 5 | 112.100 | Mature | AIEOP, HR | No | Alive | 87 | 46,XY,del(6)(q16),t(7;8)(q22;q24),t(11;14)(p14;q11)[6] | SIL-TAL1TCRAD-LMO2 | TAL/LMO | wt | wt/wt |
| 46,XY[6] | MYC translocation (18%) | ||||||||||||
| del(6)(q16)/GRIK2 | |||||||||||||
| del(9)(p21)/CDKN2AB | |||||||||||||
| 5† | M | 8 | 168.000 | n.a. | UKALL2003, regimen B | No | Alive | 60 | 46,XY,t(8;14)(q24;q11)[2]/46,XY[6] | TCRB-TAL2 | TAL/LMO | wt | wt/wt |
| TCRAD-MYC (30%) | |||||||||||||
| 6 | F | 9 | 618.000 | n.a. | MRC.ALL97/99, regimen B | No | Alive | 84 | 46,XX[14] | SIL-TAL1 | TAL/LMO | wt | wt/wt |
| TCRB-MYC (86%) | |||||||||||||
| del(10)(123)/PTEN | |||||||||||||
| del(9)(p21)/CDKN2AB | |||||||||||||
| 7† | M | 13 | 79.500 | n.a. | MRC.ALL97/99, regimen C | No | Alive | 83 | 46,XY,t(11;19)(q23;p13)[10] | MLL-ENL | HOXA | mut | wt/wt |
| MYC translocation (28%) | |||||||||||||
| trisomy 6 | |||||||||||||
| trisomy 7 | |||||||||||||
| 8† | F | 3 | 650.000 | n.a. | MRC.ALL97,SR | No | Alive | 120 | 46,XX,t(8;14)(q24;q11)[6]/46,XX[4] | TCRAD-MYC (10%) | Unclassified | wt | wt/wt |
| bdel(9)(p21)/CDKN2AB | |||||||||||||
| Adults | |||||||||||||
| 9 | F | 25 | 62.700 | Cortical vs mature | GIMEMA LAL 2000 | Yes | Died | 30 | n.a. | SIL-TAL1 | TAL/LMO | mut | wt/wt |
| TCRB-LM01 | |||||||||||||
| TCRB-MYC (62%) | |||||||||||||
| del(9)(p21)/CDKN2AB | |||||||||||||
| del(6q15)/CAS8AP2 | |||||||||||||
| 10 | M | 44 | 251.000 | Cortical | NILG ALL 10/07 | No | Alive | 29 | 46,XY,t(8;14)(q24;q11)[13].46,XX[3] | SIL-TAL1 | TAL/LMO | mut | wt/wt |
| TCRA/D-YC (90%) | |||||||||||||
| del(10)(q23)/PTEN | |||||||||||||
| del(9)(p21)/CDKN2AB | |||||||||||||
| Gain 10p13/AF10 | |||||||||||||
| 11† | F | 56 | 84.740 | Cortical vs mature | CHOP,HyperCVAD | Yes | Died | 8 | n.a. | MYC translocation (50%) | TAL/LMO | wt | wt/wt |
| del(9)(p21)/CDKN2AB | |||||||||||||
| Gain 6q23/MYB | |||||||||||||
| Trisomy 7 | |||||||||||||
| Gain Xq28/MTCP1 | |||||||||||||
| 12† | M | 48 | 20.000 | Cortical | GIMEMA 0904 | Yes | Died | 18 | n.a. | TCRAD-TLX1 | TLX1 | wt | mut/mut |
| MYC translocation (8%) | |||||||||||||
| del(18)(q11)/PTPN2 | |||||||||||||
| del(9)(q21)/CDKN2AB | |||||||||||||
| del(12)(p13)/3′ETV6 | |||||||||||||
| del(14)(q32)/BCL11B | |||||||||||||
| del(11)(p13)/WT1 |
| No. . | Sex . | Age, y . | WBC mmc . | Phenotype . | Treatment . | Relapse . | Status . | Follow-up, mo . | Karyotype . | FISH . | Category* . | PTEN . | NOTCH1/ FBX7 . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Children | |||||||||||||
| 1 | M | 14 | 235.600 | Early | AIEOP, IR | No | Alive | 107 | 46,XY,t(1;8)(q32;q24),del(4)(p15)[13] | MYC translocation (85%) | TAL/LMO | wt | wt/wt |
| del(4)(q25)/LEF1 | |||||||||||||
| del(9)(p21)/CDKN2A/B | |||||||||||||
| del(10)(q23)/PTEN | |||||||||||||
| 2 | F | 12 | 43.800 | Cortical | AIEOP, SR | Yes | Died | 13 | 46,XX,t(8;14)(q24;q11)[3] | TCRAD-MYC (60%) | TAL/LMO | mut | wt/wt |
| 48,idem,+6, +7[7] | del(9)(p21)/CDKN2A.B | ||||||||||||
| Trisomy 6 | |||||||||||||
| Trisomy 7 | |||||||||||||
| 3 | M | 10 | 754.800 | Mature | AIEOP, HR | Yes | Died | 24 | n.a. | SIL-TAL1 | TAL/LMO | mut | wt/wt |
| MYC translocation (70%) | |||||||||||||
| 4† | M | 5 | 112.100 | Mature | AIEOP, HR | No | Alive | 87 | 46,XY,del(6)(q16),t(7;8)(q22;q24),t(11;14)(p14;q11)[6] | SIL-TAL1TCRAD-LMO2 | TAL/LMO | wt | wt/wt |
| 46,XY[6] | MYC translocation (18%) | ||||||||||||
| del(6)(q16)/GRIK2 | |||||||||||||
| del(9)(p21)/CDKN2AB | |||||||||||||
| 5† | M | 8 | 168.000 | n.a. | UKALL2003, regimen B | No | Alive | 60 | 46,XY,t(8;14)(q24;q11)[2]/46,XY[6] | TCRB-TAL2 | TAL/LMO | wt | wt/wt |
| TCRAD-MYC (30%) | |||||||||||||
| 6 | F | 9 | 618.000 | n.a. | MRC.ALL97/99, regimen B | No | Alive | 84 | 46,XX[14] | SIL-TAL1 | TAL/LMO | wt | wt/wt |
| TCRB-MYC (86%) | |||||||||||||
| del(10)(123)/PTEN | |||||||||||||
| del(9)(p21)/CDKN2AB | |||||||||||||
| 7† | M | 13 | 79.500 | n.a. | MRC.ALL97/99, regimen C | No | Alive | 83 | 46,XY,t(11;19)(q23;p13)[10] | MLL-ENL | HOXA | mut | wt/wt |
| MYC translocation (28%) | |||||||||||||
| trisomy 6 | |||||||||||||
| trisomy 7 | |||||||||||||
| 8† | F | 3 | 650.000 | n.a. | MRC.ALL97,SR | No | Alive | 120 | 46,XX,t(8;14)(q24;q11)[6]/46,XX[4] | TCRAD-MYC (10%) | Unclassified | wt | wt/wt |
| bdel(9)(p21)/CDKN2AB | |||||||||||||
| Adults | |||||||||||||
| 9 | F | 25 | 62.700 | Cortical vs mature | GIMEMA LAL 2000 | Yes | Died | 30 | n.a. | SIL-TAL1 | TAL/LMO | mut | wt/wt |
| TCRB-LM01 | |||||||||||||
| TCRB-MYC (62%) | |||||||||||||
| del(9)(p21)/CDKN2AB | |||||||||||||
| del(6q15)/CAS8AP2 | |||||||||||||
| 10 | M | 44 | 251.000 | Cortical | NILG ALL 10/07 | No | Alive | 29 | 46,XY,t(8;14)(q24;q11)[13].46,XX[3] | SIL-TAL1 | TAL/LMO | mut | wt/wt |
| TCRA/D-YC (90%) | |||||||||||||
| del(10)(q23)/PTEN | |||||||||||||
| del(9)(p21)/CDKN2AB | |||||||||||||
| Gain 10p13/AF10 | |||||||||||||
| 11† | F | 56 | 84.740 | Cortical vs mature | CHOP,HyperCVAD | Yes | Died | 8 | n.a. | MYC translocation (50%) | TAL/LMO | wt | wt/wt |
| del(9)(p21)/CDKN2AB | |||||||||||||
| Gain 6q23/MYB | |||||||||||||
| Trisomy 7 | |||||||||||||
| Gain Xq28/MTCP1 | |||||||||||||
| 12† | M | 48 | 20.000 | Cortical | GIMEMA 0904 | Yes | Died | 18 | n.a. | TCRAD-TLX1 | TLX1 | wt | mut/mut |
| MYC translocation (8%) | |||||||||||||
| del(18)(q11)/PTPN2 | |||||||||||||
| del(9)(q21)/CDKN2AB | |||||||||||||
| del(12)(p13)/3′ETV6 | |||||||||||||
| del(14)(q32)/BCL11B | |||||||||||||
| del(11)(p13)/WT1 |
AIEOP, Associazione Italiana Emato-Oncologia Pediatrica; CHOP, cyclophosphasmide, doxorubicin, vincristine, prednisone; F, female; GIMEMA, Gruppo Italiano Malattie Ematologiche Maligne dell’Adulto protocols; HR, high risk; hyperCVAD, cyclophosphasmide, doxorubicin, vincristine, prednisone, methotrexate, cytarabine; IR, intermediate risk; LAL, acute lymphoblastic leukemia; M, male; mmc, cubic millimeter; MRC, Medical Research Council protocols; mut, mutated; n.a., not available; NILG, Northen Italy Leukemia Group protocol; SR, standard risk; UKALL2003, United Kingdom acute lymphoblastic leukemia protocol; WBC, white blood cell; wt, wild type.
The genetic category was defined by CI-FISH and/or gene expression profile.
Cases with subclonal MYC translocations. Between brackets the percentage of cells with MYC translocation is indicated.