Table 1.
Cytogenetic and clinical data of all the childhood HHD‐B‐ALL samples used for seq‐iFISH analyses. DX, Diagnosis; RX: Relapse. CR: patients who remained disease‐free after a minimum of 5 years of follow‐up after treatment; REL: patients who relapsed within this timeframe (except REL07, relapse after 7 years).
| Code | Event | Karyotype | Age | Gender | % blasts a | WBC dx (×109·L−1) | Follow‐up b , c | Treatment protocol | Relapse | Exitus |
|---|---|---|---|---|---|---|---|---|---|---|
| CR01 | Dx | 58,XY,+X,−Y,+4,+6,+8,+10,+11,+12,+14,+17,+18,+21,+21,+22 (SNP6) | 3 | M | 91.6 | 195 | 14 | COALL03‐HR‐S | No | No |
| CR02 | Dx | 53,XX,+X,+X,+6,+14,+17,+21,+21 (SNP6) | 2 | F | 89.2 | 9 | 9.6 | COALL03LR‐R | No | No |
| CR03 | Dx | 55 XXYY,+4,+6,+12,+15,+18,+21 | 8 | M | 98.6 | ‐ | 5.5 | SEHOP/PETHEM2013 | No | No |
| CR04 | Dx | 54,XX,+X,+6,+8,+14,+17,+18,+21,+21[15]/54,idem,−13,+mar[11]/46,XX[19] | 4 | F | 89 | 8.2 | 8.2 | ALL10‐MR | No | No |
| CR05 | Dx | 57,XX,+X,+X,+4,+6,+8,+10,+14,+17,+18,+21,+21 (SNP6) | 2 | F | 99 | 4 | 13.3 | COALL03‐LR‐R | No | No |
| CR06 | Dx | 54,X,+X,Y,+6,+10,+14,+17,+18,+21,+mar[30] | 3 | M | 94.2 | 33.9 | 16 | PETHEMA LAL96 | No | No |
| CR07 | Dx | 55,XXY,+3,+4,+6,+10,+14,+18,+21,+21/46,XY | 2.3 | M | 93.9 | 25.4 | 9 | SHOP‐2005 | No | No |
| CR08 | Dx | 60,XY,+X,+4,+6,+7,+8,+9,+14,+17,+18,+21,+21,+3mar/46,XY | 6 | M | 82.4 | 2.67 | 11 | SHOP‐2005 | No | No |
| CR09 | Dx | 57,XXY,+4,+6,+8,+10,+10?,+13,+14,+17,+18,+21[14]/46,XY[16] | 13 | M | 90.1 | 4.2 | 7 | SHOP‐2005 | No | No |
| CR10 | Dx | 54,XXX,+4,+6,+8,inv(9)(p11q12),+14,+17,+18,+21[22]/46,XX,inv(9)(p11q12)[2] | 3 | F | 95.6 | 9.7 | 7 | SHOP‐2005 | No | No |
| Mean ± SEM | 4.6 ± 1.1 | 6/4 | 31.4 ± 19.7 | 10.1 ± 1.1 | ||||||
| REL01 | Dx | 59,XY,+?X,+4,+6,+7,+8,+12,+14,+?add(17)(p1),+18,+18,+21,+der(?)t(?;5)(?;q?13),+mar[6]/63,idem,dup(1)(q2q3),+22,inc[7]/46,XY[5] | 6 | M | 80.6 | 4.2 | 4.4 | UKALL2003‐SR | Yes | Yes |
| Rx | 55‐57,X,−Y,+X,+8,+?10,+12,+14,+?add(17)(p1),+18,+21,+der(?)t(?;5)(?;q?13),inc[cp7]/46,XY[25] | |||||||||
| REL02 | Dx | 51,XX,+X,+8,+14,+21,+21[5]/46,XX[9] | 2 | F | 95.9 | 119 | 3.6 | UKALL2003‐B | Yes | No |
| Rx | 51,XX,+X,+8,del(11)(q2?2),+14,+21,+21[12]/46,XX[8] | |||||||||
| REL03 | Dx | 54,XY,+X,+4,+6,+10,+14,+add(19)(p13),+20,+21[cp8] | 13 | M | 98 | 1.2 | 4.2 | UKALL2003‐B | Yes | No |
| Rx | 54 ~ 55,XY,+X,+4,+5,+6,+10,+14,add(19)(p13),? + 20,+21,+21,+mar[cp9]/46,XY[1] | |||||||||
| REL04 | Dx | 46,XX[20]/High hyperdiploid by FISH | 13 | F | 72.9 | 4.1 | 2.6 | UKALL2003‐A | Yes | Yes |
| Rx | 55,XX,+X,+1,+4,+8,+14,+15,+21,+21,+mar[cp4]/46,XX[16] | |||||||||
| REL05 | Dx | 52‐56,XY,+X,dup(1)(q25q44),+4,+8,+10,+11,+14,+18,+21,+21,+mar[cp7]/46,XY[3] | 8 | M | 96.1 | 47 | 3.5 | UKALL2003‐A | Yes | Yes |
| Rx | High hyperdiploid by FISH | |||||||||
| REL06 | Dx | 46,XY[20]/High hyperdiploid by FISH | 8 | M | 50.2 | 7.8 | 4.2 | UKALL2003‐A | Yes | Yes |
| Rx | High hyperdiploid by FISH | |||||||||
| REL07 | Dx | 56,XY,+X,ins(1;?),(q21.3;?),+4,+6,+14,+17,+18,+21,+21,+22,+mar[5]/46,XY[5] | 2 | M | 86.5 | 55 | 7.2 | UKALL2003‐C | Yes | No |
| Rx | 46,XY[30]/High hyperdiploid by FISH | |||||||||
| REL08 | Dx | High hyperdiploid by FISH | 8 | M | 79.3 | 44.6 | 4.6 | UKALL2003‐A | Yes | No |
| Rx | 52,XY,+X,+Y,+14,+21,+21[1]/46,XY[9] | |||||||||
| REL09 | Dx | 51,XX,+X,+6,+14,+21,+21[16]/51,idem,add(9)(q34)[2]/46,XX[2] | 3 | F | 77.2 | 31.7 | 3.3 | UKALL2003‐A | Yes | Yes |
| Rx | 52,XX,+X,+6,+14,+17,+21,+21[13]/46,XX[3] | |||||||||
| REL10 | Dx | 53,XX,+4,+6,+14,+17,+18,+2mar[8]/46,XX[22] | 2 | F | 71.1 | 43.9 | 2 | PETHEMA LAL 96 | Yes | Yes |
| Rx | 53,XX,+4,+6,+14,+17,+18,+2mar[36%]/46,XX[64%] | |||||||||
| REL11 | Dx | 59,XXY,+Y,der(1)(q?),+4,+5,+6,+8,+10,+11,+18,+18,+21,+22,mar[9]/46,XY[41] | 5 | M | 34.7 | 0.54 | 2 | LAL‐SHOP‐2005 | Yes | Yes |
| REL12 | Dx | 57,XY,der(1)(p?q?),+4,10mar[56%]/46,XY[44%] | 5 | M | 65.5 | 0.5 | PETHEMA LAL 96 | Yes | No | |
| Mean ± SEM | 6.5 ± 1.1 | 8/5 | 32.6 ± 9.9 | 3.5 ± 0.5 |
a
As observed by FISH (% HHD cells).
b
Indicates follow‐up in CR for non‐relapsing patients.
c
Indicates time‐to‐relapse for relapsing patients.