Clinical, immunophenotypic, hematologic, molecular, and cytogenetic data
| Patient . | Sex/age, y . | Diagnosis . | WBC, ×109/L . | PICALM MLLT10 . | MLL-ENL . | MLL-AF4 . | SIL-TAL1 . | NOTCH1 . | FLT3 . | Karyotype . | CI-FISH . | SNPs . | MRD +33/+78 . | Chemotherapy* . | Follow-up, mo . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 (UPN 1036616) | F/7 | ETP-ALL | 10.55 | na | na | neg | neg | mut† | neg | 46,XX,inv(10) (p12q25)[2] /46,XX[17] | Split: MLLT10/10p12 (55%) | Normal | +/+ | High risk, no transplant donor | 33+ |
| Loss: IKZF1/7p12 (10%) | |||||||||||||||
| 2 (UPN 1023865) | M/11 | Cortical T-ALL | 152.8 | neg | neg | n.a. | neg | mut‡ | neg | Failed | Split: MLLT10/10p12 | Loss: 9p24.3-p11.2: from 0 to 47 508 608 bp | +/− | Standard risk | 73+ |
| Loss: PAX5,CDKN2A/B, JAK2/9p13-24 | Gain: 17q21.32-q25.3: from 45 273 751 to 78 786 769 bp | ||||||||||||||
| Gain: RP11-501C14/17q21.31 |
| Patient . | Sex/age, y . | Diagnosis . | WBC, ×109/L . | PICALM MLLT10 . | MLL-ENL . | MLL-AF4 . | SIL-TAL1 . | NOTCH1 . | FLT3 . | Karyotype . | CI-FISH . | SNPs . | MRD +33/+78 . | Chemotherapy* . | Follow-up, mo . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 (UPN 1036616) | F/7 | ETP-ALL | 10.55 | na | na | neg | neg | mut† | neg | 46,XX,inv(10) (p12q25)[2] /46,XX[17] | Split: MLLT10/10p12 (55%) | Normal | +/+ | High risk, no transplant donor | 33+ |
| Loss: IKZF1/7p12 (10%) | |||||||||||||||
| 2 (UPN 1023865) | M/11 | Cortical T-ALL | 152.8 | neg | neg | n.a. | neg | mut‡ | neg | Failed | Split: MLLT10/10p12 | Loss: 9p24.3-p11.2: from 0 to 47 508 608 bp | +/− | Standard risk | 73+ |
| Loss: PAX5,CDKN2A/B, JAK2/9p13-24 | Gain: 17q21.32-q25.3: from 45 273 751 to 78 786 769 bp | ||||||||||||||
| Gain: RP11-501C14/17q21.31 |
y, years; m, months; F, female; M, male; MRD, minimal residual disease; mut, mutated; n.a., data not available; neg., negative; UPN, unique patent number; WBC, white blood cell; [ ], number of cells analyzed.
AIEOP LLA 2000 (supplemental reference 1).
c.4766_4767insAGCAGAACCGGAGCAGCTGCGCAACAGCTC; p.S1589_F1590insAEPEQLRNSS.
c.G4793C; p.R1598P; NOTCH1 mutation numbers refer to CCDS 43905.1 and NP_060087.3.