Clinical characteristics of the patients with acute leukemia harboring a CBFB-GDXY mutation
| Identifier . | CBFB-GDXY mutation (CBFB NM_022845.3) . | Age/Sex . | Diagnosis . | FAB category . | Karyotype . | Cooperating gene mutations . | Risk group . | Treatment protocol . | Outcome . | References . |
|---|---|---|---|---|---|---|---|---|---|---|
| PARANT:SJAML040573 | c.259_260insGAGATTCCT p.(Asp87delinsGlyAspSerTyr) | 17M | AML | M2 | 46,XY | ETV6, KRAS, NF1 | Standard | AAML0531 | Alive/CR | 9,10 |
| PARCEC | c.259_260insGAGACTCCT p.(Asp87delinsGlyAspSerTyr) | 23F | AML | Unknown | 46,XX | NRAS | Standard | AAML0531 | Refractory/dead | 9,10 |
| PARUTH:SJAML040605 | c.259_260insGGGACTCCT p.(Asp87delinsGlyAspSerTyr) | 9M | AML | Unknown | 46,XY.nuc ish CBFB×3 | FLT3, NRAS, BCORL1 | Standard | AAML0531 | Relapse/dead | 9 |
| PAVLBB | c.259_260insGTGACTCCT p.(Asp87delinsGlyAspSerTyr) | 15M | AML | Unknown | 46,XY | Standard | AAML1031 | Refractory/dead | Unpublished | |
| PAWIHN | c.259_260insGGGATTCCT p.(Asp87delinsGlyAspSerTyr) | 17F | AML | Unknown | 46,XX,i(7)(p10) | KDM6A | Standard | AAML1031 | Alive/CR | Unpublished |
| PAWZIX | c.259_260insGGGACTCCT p.(Asp87delinsGlyAspSerTyr) | 13F | AML | Unknown | 46,XX | ETV6, NRAS | Standard | AAML1031 | Relapse/alive/CR2 | Unpublished |
| PAXCCW | c.259_260insGGGACTCCT p.(Asp87delinsGlyAspSerTyr) | 12F | AML | Unknown | 47,XX,+6 | NRAS | Standard | AAML1031 | Alive/CR | Unpublished |
| PAXDVZ | c.259_260insGGGATTCCT p.(Asp87delinsGlyAspSerTyr) | 20M | AML | Unknown | 46,XY | BCORL1, KDM6A, NRAS | Standard | AAML1031 | Refractory/dead | Unpublished |
| SJMPAL017975 | c.259_260insGAGACAGTT p.(Asp87delinsGlyAspSerTyr) | 18M | B/M MPAL | Unknown | 51,XY,+Y,+4,+6,+13,+22 | FLT3, ASXL1, BCORL1 | Unknown | Unknown | Alive/CR | 11 |
| SJAML016545 | c.259_260insGAGACTCGT p.(Asp87delinsGlyAspSerTyr) | 16M | AML | M2 | 47,XY,+22 | FLT3 | Intermediate | AML02 | Alive/CR | 12 |
| SJAML031769 | c.259_260insGGGATTCCT p.(Asp87delinsGlyAspSerTyr) | 12M | AML | M2 | 47,XY,+6 | NRAS, FLT3 | Intermediate | AML16 | Alive/CR | Unpublished |
| SJAML033048 | c.259_260insGGGATTCCT p.(Asp87delinsGlyAspSerTyr) | 14F | AML | M2 | 46,XX | BCORL1 | Intermediate | AML16 | Alive/CR | Unpublished |
| SBJ00860 | c.259_260insGGGACTCCT p.(Asp87delinsGlyAspSerTyr) | 25M | AML | M1 | BCORL1, ETV6, KMT2D | Intermediate | Induction: 7 + 3 Cytarabine/idarubicin Consolidation: HiDAC ×3 cycles | Alive/CR | Unpublished | |
| AML075 | c.259_260insGGGATTCGT p.(Asp87delinsGlyAspSerTyr) | 10M | AML | M0-NOS | 46,XY,inv(9)(q11q12) | NF1, KDM6A, WT1 | Intermediate | NOPHO-AML-93 | Relapse/dead | 4,13 |
| AMLNOS004 | c.259_260insGCGATTCCT p.(Asp87delinsGlyAspSerTyr) | 15M | AML | M1 | 47,XY,+6 | FLT3, BCORL1, KDM6A | Standard | NOPHO AML 2004 | Alive/CR | Unpublished |
| ALG201115 | c.259_260insGAGATTCCT p.(Asp87delinsGlyAspSerTyr) | 27M | AML | M1 | 46,XY | Intermediate | VP2010-2012 | Relapse/alive/CR2 | Unpublished | |
| MLL_75644 | c.259_260insGGGATTCCT p.(Asp87delinsGlyAspSerTyr) | 17M | AML | M1 | 46,XY | FLT3, BCORL1, ETV6 | Intermediate | Unknown | Unknown | Unpublished |
| 115225 | c.259_260insGAGATACCT p.(Asp87delinsGlyAspThrTyr) | 22M | AML | Indeterminate | 46,XY | FLT3, ETV6, WT1, DNMT3A | Unknown | Induction: 7 + 3 cytarabine/daunorubicin, with concurrent midostaurin (vs placebo) consolidation: high-dose cytarabine ×3 cycles with concurrent midostaurin (vs placebo) + 12 mth maintenance midostaurin (vs placebo) | Relapse/alive/CR2 | 14 |
| Identifier . | CBFB-GDXY mutation (CBFB NM_022845.3) . | Age/Sex . | Diagnosis . | FAB category . | Karyotype . | Cooperating gene mutations . | Risk group . | Treatment protocol . | Outcome . | References . |
|---|---|---|---|---|---|---|---|---|---|---|
| PARANT:SJAML040573 | c.259_260insGAGATTCCT p.(Asp87delinsGlyAspSerTyr) | 17M | AML | M2 | 46,XY | ETV6, KRAS, NF1 | Standard | AAML0531 | Alive/CR | 9,10 |
| PARCEC | c.259_260insGAGACTCCT p.(Asp87delinsGlyAspSerTyr) | 23F | AML | Unknown | 46,XX | NRAS | Standard | AAML0531 | Refractory/dead | 9,10 |
| PARUTH:SJAML040605 | c.259_260insGGGACTCCT p.(Asp87delinsGlyAspSerTyr) | 9M | AML | Unknown | 46,XY.nuc ish CBFB×3 | FLT3, NRAS, BCORL1 | Standard | AAML0531 | Relapse/dead | 9 |
| PAVLBB | c.259_260insGTGACTCCT p.(Asp87delinsGlyAspSerTyr) | 15M | AML | Unknown | 46,XY | Standard | AAML1031 | Refractory/dead | Unpublished | |
| PAWIHN | c.259_260insGGGATTCCT p.(Asp87delinsGlyAspSerTyr) | 17F | AML | Unknown | 46,XX,i(7)(p10) | KDM6A | Standard | AAML1031 | Alive/CR | Unpublished |
| PAWZIX | c.259_260insGGGACTCCT p.(Asp87delinsGlyAspSerTyr) | 13F | AML | Unknown | 46,XX | ETV6, NRAS | Standard | AAML1031 | Relapse/alive/CR2 | Unpublished |
| PAXCCW | c.259_260insGGGACTCCT p.(Asp87delinsGlyAspSerTyr) | 12F | AML | Unknown | 47,XX,+6 | NRAS | Standard | AAML1031 | Alive/CR | Unpublished |
| PAXDVZ | c.259_260insGGGATTCCT p.(Asp87delinsGlyAspSerTyr) | 20M | AML | Unknown | 46,XY | BCORL1, KDM6A, NRAS | Standard | AAML1031 | Refractory/dead | Unpublished |
| SJMPAL017975 | c.259_260insGAGACAGTT p.(Asp87delinsGlyAspSerTyr) | 18M | B/M MPAL | Unknown | 51,XY,+Y,+4,+6,+13,+22 | FLT3, ASXL1, BCORL1 | Unknown | Unknown | Alive/CR | 11 |
| SJAML016545 | c.259_260insGAGACTCGT p.(Asp87delinsGlyAspSerTyr) | 16M | AML | M2 | 47,XY,+22 | FLT3 | Intermediate | AML02 | Alive/CR | 12 |
| SJAML031769 | c.259_260insGGGATTCCT p.(Asp87delinsGlyAspSerTyr) | 12M | AML | M2 | 47,XY,+6 | NRAS, FLT3 | Intermediate | AML16 | Alive/CR | Unpublished |
| SJAML033048 | c.259_260insGGGATTCCT p.(Asp87delinsGlyAspSerTyr) | 14F | AML | M2 | 46,XX | BCORL1 | Intermediate | AML16 | Alive/CR | Unpublished |
| SBJ00860 | c.259_260insGGGACTCCT p.(Asp87delinsGlyAspSerTyr) | 25M | AML | M1 | BCORL1, ETV6, KMT2D | Intermediate | Induction: 7 + 3 Cytarabine/idarubicin Consolidation: HiDAC ×3 cycles | Alive/CR | Unpublished | |
| AML075 | c.259_260insGGGATTCGT p.(Asp87delinsGlyAspSerTyr) | 10M | AML | M0-NOS | 46,XY,inv(9)(q11q12) | NF1, KDM6A, WT1 | Intermediate | NOPHO-AML-93 | Relapse/dead | 4,13 |
| AMLNOS004 | c.259_260insGCGATTCCT p.(Asp87delinsGlyAspSerTyr) | 15M | AML | M1 | 47,XY,+6 | FLT3, BCORL1, KDM6A | Standard | NOPHO AML 2004 | Alive/CR | Unpublished |
| ALG201115 | c.259_260insGAGATTCCT p.(Asp87delinsGlyAspSerTyr) | 27M | AML | M1 | 46,XY | Intermediate | VP2010-2012 | Relapse/alive/CR2 | Unpublished | |
| MLL_75644 | c.259_260insGGGATTCCT p.(Asp87delinsGlyAspSerTyr) | 17M | AML | M1 | 46,XY | FLT3, BCORL1, ETV6 | Intermediate | Unknown | Unknown | Unpublished |
| 115225 | c.259_260insGAGATACCT p.(Asp87delinsGlyAspThrTyr) | 22M | AML | Indeterminate | 46,XY | FLT3, ETV6, WT1, DNMT3A | Unknown | Induction: 7 + 3 cytarabine/daunorubicin, with concurrent midostaurin (vs placebo) consolidation: high-dose cytarabine ×3 cycles with concurrent midostaurin (vs placebo) + 12 mth maintenance midostaurin (vs placebo) | Relapse/alive/CR2 | 14 |
AML, acute myeloid leukemia; CR, complete response; MPAL, mixed phenotype acute leukemia.
Full information is found in Supplemental Table 1.