From: The specific distribution pattern of IKZF1 mutation in acute myeloid leukemia
No. | Gender/age | Diagnosis | PB | BM blast | IKZF1 mutation (VAF, mutational site) | Karyotype | Gene fusion | Gene mutation | Response | OS |
---|---|---|---|---|---|---|---|---|---|---|
1 | M/45 | AML-M0 | WBC 19.1Â G/L HB 77Â g/l PLT 129 G/L Blast 89% | 90% | 44.51%, Exon4:c.184_185insAA/p.Q62fs*32 | 46,XY,t(3;3)(q13;q27)[10] | ND | PTPN11,SF3B1 | HAA, NR | Dead, 3.5Â months |
2 | M/61 | AML-M0 | WBC 5.2 G/L HB 83 g/l PLT 917 G/L | 28% | 38.19%, Exon4:c.214G>T/p.E72X 42.29%, Exon8:c.1150delT/p.S384fs*31 | 47,XY,+3(q21)[20] | ND | BCOR,PTPN11,FLT3, SF3B1 | AZA + IDA, NR | Dead, 3 months |
3 | M/24 | AML-M2 | WBC 6.6Â G/L HB 85Â g/l PLT 10Â G/L Blast 34% | 57% | 1.69%, Exon5:c.427C>T/p.R143W 3.49%, Exon6:c.637C>T/p.R213X | 46,XY,del(8)(q22)[5]/46,XY[5] | ND | dCEBPA,MSH6,DNMT3A,WT1 | IA, CR | Live, 5Â months |
4 | M/21 | MLL-M2 | WBC 46.6 G/L HB 76 g/l PLT 23 G/L Blast 75% | 88.5% | 23.04%, Exon5:c.472G>A/p.G158S | 46,XY[20] | ND | CCND3,dCEBPA,GATA2 | VEN + CAG, CR | Live, 4 months |
5 | F/52 | AML-M2/ MS (r/r) | WBC 4.2Â G/L HB 98Â g/l PLT 84Â G/L | 35% | 19.93%, Exon4:c.336delinsGCCCG/ p.L112fs*4 | 46,XX[20] | ND | dCEBPA,CSF3R,CTCF,WT1 | GHAA, NA | Live, 0.5Â months |