Clinical and cytogenetic data of 27 cases of ALL with 13q12.2 deletions
| Case* . | Cohort . | Sex . | Age, y . | WBC count, ×109/L . | Genetic subtype . | Karyotype at diagnosis . |
|---|---|---|---|---|---|---|
| 1† | 1 | M | 3 | 51 | HeH | 55,XY,+X,+4,+5,+6,idic(7)(p11),+8,+10,+14,+17,+21 |
| 2† | 1 | F | 5 | 6.3 | HeH | 53,XX,+4,+6,+10,+14,+18,+21,+21 |
| 3† | 1 | F | 3 | 19 | HeH | 55,XX,+X,+4,+6,+7,+10,+14,+17,+18,+21 |
| 4† | 1 | M | 5 | 2.0 | HeH | 59,XXY,−1,−2,−3,−7,−9,−11,−12,−13,+14,−16,−19,−20,+21 |
| 5† | 1 | F | 6 | 1.2 | HeH | 53,XX,+X,+4,+6,+8,+10,+14,+17,+21,+21 |
| 6† | 1 | F | 15 | 3.5 | HeH | 57,XX,+X,+X,+4,+6,der(8)t(8;14)(p11;q12),+10,+14,+14,+17,+18,+21,+21 |
| 7† | 1 | M | 4 | 17 | HeH | 57,XY,+X,+3,+4,+6,+8,+10,+14,+16,+18,+21/55-57,idem,i(7)(q10) |
| 8† | 1 | F | 11 | 6.1 | iAMP21 | 45-47,XX,del(5)(p13),−7,−8,−19,qdp(21)(q22q22),+r,+1-2mar,inc |
| 9† | 1 | F | 4 | 12 | ETV6/RUNX1 | 46,XX,del(12)(p13p13),t(12;21)(p13;q22) |
| 10 | 2 | F | 17 | 19 | B-other | N/A |
| 11 | 2 | F | 10 | 5.6 | HeH | N/A |
| 12 | 2 | M | 17 | 2.1 | HeH | 57,XY,+X,+4,+6,+9,+10,+14,+14,+18,+21,+21,+mar |
| 13 | 2 | F | 7 | 3.6 | HeH | N/A |
| 14 | 2 | F | 2 | 1.3 | HeH | 53,XX,+X,+6,+14,+15,+17,+21,+21 |
| 15 | 2 | F | 12 | 1.1 | iAMP21 | N/A |
| 16 | 3 | M | 4 | 18 | HeH | 53,XY,+X,+4,+6,+13,+18,+21,+21‡ |
| 17 | 3 | F | 5 | 6.3 | HeH | 53,XX,+X,+4,+4,+6,+14,+21,+21/54,idem,+17‡ |
| 18 | 3 | M | 3 | 27 | HeH | 52,XY,+X,+6,+14,+17,+18,+21,+21‡ |
| 19 | 3 | F | 4 | 9.9 | HeH | 54,XX,+X,+X,+6,+10,+14,+18,+21,+21‡ |
| 20 | 4 | M | 4 | 2.0 | HeH | 52,XY,+X,+4,+6,+14,+21,+21‡ |
| 21 | 4 | F | 4 | 4.8 | HeH | 54,XX,+X,+4,+6,+14,+17,+18,+21,+21‡ |
| 22 | 4 | M | 10 | 1.4 | HeH | 54,XY,+X,+4,+10,+14,+14,+20,+21,+21/56,idem,+8,+9‡ |
| 23 | 5 | M | 12 | 36 | HeH | 57,XY,+X,+1,add(1)(p13),del(1)(q42),+3,+4,+6,+7,del(7)(q22),+10,−12,+14,+14,i(17)(q10),+21,+21,+mar |
| 24 | 5 | F | 7 | 7.2 | HeH | 54,XX,+X,dup(1)(q21q32),+4,+6,+10,+14,+17,+18,+21 |
| 25 | 5 | F | 13 | 18 | HeH | 55,XX,+X,+X,dup(1)(q25q44),+4,+6,+10,+14,+17,+18,+21 |
| 26 | 5 | F | 6 | 29 | HeH | 53,XX,+X,+4,+6,+9,+14,+21,+21/53,idem,−9,+der(9;17)(q10;q10) |
| 27 | 5 | F | 13 | 118 | HeH | 56,XX,+X,+4,+6,+8,+10,+11,+14,+14,+21,+21 |
| Case* . | Cohort . | Sex . | Age, y . | WBC count, ×109/L . | Genetic subtype . | Karyotype at diagnosis . |
|---|---|---|---|---|---|---|
| 1† | 1 | M | 3 | 51 | HeH | 55,XY,+X,+4,+5,+6,idic(7)(p11),+8,+10,+14,+17,+21 |
| 2† | 1 | F | 5 | 6.3 | HeH | 53,XX,+4,+6,+10,+14,+18,+21,+21 |
| 3† | 1 | F | 3 | 19 | HeH | 55,XX,+X,+4,+6,+7,+10,+14,+17,+18,+21 |
| 4† | 1 | M | 5 | 2.0 | HeH | 59,XXY,−1,−2,−3,−7,−9,−11,−12,−13,+14,−16,−19,−20,+21 |
| 5† | 1 | F | 6 | 1.2 | HeH | 53,XX,+X,+4,+6,+8,+10,+14,+17,+21,+21 |
| 6† | 1 | F | 15 | 3.5 | HeH | 57,XX,+X,+X,+4,+6,der(8)t(8;14)(p11;q12),+10,+14,+14,+17,+18,+21,+21 |
| 7† | 1 | M | 4 | 17 | HeH | 57,XY,+X,+3,+4,+6,+8,+10,+14,+16,+18,+21/55-57,idem,i(7)(q10) |
| 8† | 1 | F | 11 | 6.1 | iAMP21 | 45-47,XX,del(5)(p13),−7,−8,−19,qdp(21)(q22q22),+r,+1-2mar,inc |
| 9† | 1 | F | 4 | 12 | ETV6/RUNX1 | 46,XX,del(12)(p13p13),t(12;21)(p13;q22) |
| 10 | 2 | F | 17 | 19 | B-other | N/A |
| 11 | 2 | F | 10 | 5.6 | HeH | N/A |
| 12 | 2 | M | 17 | 2.1 | HeH | 57,XY,+X,+4,+6,+9,+10,+14,+14,+18,+21,+21,+mar |
| 13 | 2 | F | 7 | 3.6 | HeH | N/A |
| 14 | 2 | F | 2 | 1.3 | HeH | 53,XX,+X,+6,+14,+15,+17,+21,+21 |
| 15 | 2 | F | 12 | 1.1 | iAMP21 | N/A |
| 16 | 3 | M | 4 | 18 | HeH | 53,XY,+X,+4,+6,+13,+18,+21,+21‡ |
| 17 | 3 | F | 5 | 6.3 | HeH | 53,XX,+X,+4,+4,+6,+14,+21,+21/54,idem,+17‡ |
| 18 | 3 | M | 3 | 27 | HeH | 52,XY,+X,+6,+14,+17,+18,+21,+21‡ |
| 19 | 3 | F | 4 | 9.9 | HeH | 54,XX,+X,+X,+6,+10,+14,+18,+21,+21‡ |
| 20 | 4 | M | 4 | 2.0 | HeH | 52,XY,+X,+4,+6,+14,+21,+21‡ |
| 21 | 4 | F | 4 | 4.8 | HeH | 54,XX,+X,+4,+6,+14,+17,+18,+21,+21‡ |
| 22 | 4 | M | 10 | 1.4 | HeH | 54,XY,+X,+4,+10,+14,+14,+20,+21,+21/56,idem,+8,+9‡ |
| 23 | 5 | M | 12 | 36 | HeH | 57,XY,+X,+1,add(1)(p13),del(1)(q42),+3,+4,+6,+7,del(7)(q22),+10,−12,+14,+14,i(17)(q10),+21,+21,+mar |
| 24 | 5 | F | 7 | 7.2 | HeH | 54,XX,+X,dup(1)(q21q32),+4,+6,+10,+14,+17,+18,+21 |
| 25 | 5 | F | 13 | 18 | HeH | 55,XX,+X,+X,dup(1)(q25q44),+4,+6,+10,+14,+17,+18,+21 |
| 26 | 5 | F | 6 | 29 | HeH | 53,XX,+X,+4,+6,+9,+14,+21,+21/53,idem,−9,+der(9;17)(q10;q10) |
| 27 | 5 | F | 13 | 118 | HeH | 56,XX,+X,+4,+6,+8,+10,+11,+14,+14,+21,+21 |
F, female; HeH, high-hyperdiploid; iAMP21, intrachromosomal amplification of chromosome 21; M, male; N/A, data not available; WBC, white blood cell.
Cases 10-15 correspond to TARGET cases PANPRP, PANVUV, PAPHCJ, PARBRK, PAPJIB, and PARSZH, respectively. Cases 23-27 correspond to TARGET cases PARDXI, PARFJK, PARRVI, PAPAMH, and PARKZX, respectively.
The karyotypes of cases 1-9 have been previously published in Olsson et al.7
Based on SNP array data only.