Characteristics of AML cases with BCORL1 mutations
| Sample . | Age, y . | Sex . | Previous treatment for AML . | FAB subclass . | WHO type . | Prior MDS or MDS/MPN . | Therapy-related . | SWOG risk group . | Cytogenetic risk . | BCORL1 mutations . | KRAS mutations . | NRAS mutations . | CEBPA mutations . | IDH1 mutations . | IDH2 mutations . | DNMT3A mutations . | TP53 mutations . | RUNX1 mutations . | FLT3 mutations . | NPM1 mutations . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AML14 | 70 | Female | No | M1 | AML-NOS | No | No | Intermediate | 47,XX,+8[19] | p.S1158A | WT | WT | WT | WT | p.R140Q | WT | WT | Frameshift | p.D835Y | WT |
| AML151 | 51 | Male | No | M4 | AML-MRC-1,2 | RAEB-1 | No | Unfavorable | 45,XY,-7,i(21)(q10)[12]/46,XY, +i(21)(q10)[6] | p.P810T | WT | p.Q61K | WT | WT | WT | WT | WT | p.W106L | WT | WT |
| AML33 | 68 | Male | No | M6 | AML-MRC-1 | RAEB-2 | No | Intermediate | 46,XY,del(3)(q13q27)[16]/46,XY[4] | Frameshift | WT | WT | WT | WT | WT | p.V716I | WT | WT | WT | WT |
| AML35 | 67 | Male | No | M2 | AML-MRC-1 | CMML-1 | No | Intermediate | 47,XY,+14[16]/46,XY[4] | Frameshift | WT | WT | WT | WT | WT | p.Y448X | WT | WT | WT | WT |
| AML45 | 63 | Female | No | M4 | AML-TR | No | Yes | Intermediate | 46,XY[20] | Frameshift | WT | WT | WT | WT | WT | WT | WT | WT | WT | WT |
| AML216 | 50 | Female | No | M5 | AML-MRC-1 | RCMD | No | Intermediate | 47,XX,+8[5]/46,XX[24] | Frameshift | WT | WT | WT | p.R132C | WT | p.S714F, p.G685R | WT | WT | WT | WT |
| AML257 | 63 | Female | No | M4 | AML-NOS | No | No | Intermediate | 46,XX[20] | Frameshift | WT | WT | WT | WT | WT | WT | WT | Frameshift; p.F131V | ITD | WT |
| AML57 | 69 | Male | No | M4eo | AML-RGA (16p13q22) | No | No | Favorable | 46,XY,inv(16)(p13q22)[14] | p.Q538X | p.G13GD | WT | WT | WT | WT | WT | WT | WT | WT | WT |
| AML87 | 55 | Female | No | M0 | AML-NOS | No | No | Unfavorable | 46,XX,t(3;9;22)(q21;q34;q11.2) [15]/46,XX[5] | p.E1112X | WT | WT | WT | WT | WT | WT | WT | WT | WT | WT |
| AML182 | 59 | Male | No | M0 | AML-NOS | No | No | Intermediate | 48,XY,+21,+21[15] | p.R784X | WT | WT | WT | p.R132G | WT | p.R693H | WT | Frameshift | ITD | WT |
| Sample . | Age, y . | Sex . | Previous treatment for AML . | FAB subclass . | WHO type . | Prior MDS or MDS/MPN . | Therapy-related . | SWOG risk group . | Cytogenetic risk . | BCORL1 mutations . | KRAS mutations . | NRAS mutations . | CEBPA mutations . | IDH1 mutations . | IDH2 mutations . | DNMT3A mutations . | TP53 mutations . | RUNX1 mutations . | FLT3 mutations . | NPM1 mutations . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AML14 | 70 | Female | No | M1 | AML-NOS | No | No | Intermediate | 47,XX,+8[19] | p.S1158A | WT | WT | WT | WT | p.R140Q | WT | WT | Frameshift | p.D835Y | WT |
| AML151 | 51 | Male | No | M4 | AML-MRC-1,2 | RAEB-1 | No | Unfavorable | 45,XY,-7,i(21)(q10)[12]/46,XY, +i(21)(q10)[6] | p.P810T | WT | p.Q61K | WT | WT | WT | WT | WT | p.W106L | WT | WT |
| AML33 | 68 | Male | No | M6 | AML-MRC-1 | RAEB-2 | No | Intermediate | 46,XY,del(3)(q13q27)[16]/46,XY[4] | Frameshift | WT | WT | WT | WT | WT | p.V716I | WT | WT | WT | WT |
| AML35 | 67 | Male | No | M2 | AML-MRC-1 | CMML-1 | No | Intermediate | 47,XY,+14[16]/46,XY[4] | Frameshift | WT | WT | WT | WT | WT | p.Y448X | WT | WT | WT | WT |
| AML45 | 63 | Female | No | M4 | AML-TR | No | Yes | Intermediate | 46,XY[20] | Frameshift | WT | WT | WT | WT | WT | WT | WT | WT | WT | WT |
| AML216 | 50 | Female | No | M5 | AML-MRC-1 | RCMD | No | Intermediate | 47,XX,+8[5]/46,XX[24] | Frameshift | WT | WT | WT | p.R132C | WT | p.S714F, p.G685R | WT | WT | WT | WT |
| AML257 | 63 | Female | No | M4 | AML-NOS | No | No | Intermediate | 46,XX[20] | Frameshift | WT | WT | WT | WT | WT | WT | WT | Frameshift; p.F131V | ITD | WT |
| AML57 | 69 | Male | No | M4eo | AML-RGA (16p13q22) | No | No | Favorable | 46,XY,inv(16)(p13q22)[14] | p.Q538X | p.G13GD | WT | WT | WT | WT | WT | WT | WT | WT | WT |
| AML87 | 55 | Female | No | M0 | AML-NOS | No | No | Unfavorable | 46,XX,t(3;9;22)(q21;q34;q11.2) [15]/46,XX[5] | p.E1112X | WT | WT | WT | WT | WT | WT | WT | WT | WT | WT |
| AML182 | 59 | Male | No | M0 | AML-NOS | No | No | Intermediate | 48,XY,+21,+21[15] | p.R784X | WT | WT | WT | p.R132G | WT | p.R693H | WT | Frameshift | ITD | WT |
FAB indicates French-American-British; WHO, World Health Organization; MDS, myelodysplastic syndrome; MPN, myeloproliferative neoplasm; SWOG, Southwest Oncology Group; NOS, not otherwise specified; MRC, Medical Research Council; RAEB, refractory anemia with excess blasts; CMML, chronic myelomonocytic leukemia; RCMD, refractory cytopenia with multilineage dysplasia; and WT, wild-type.