Characterization of non–AML M0 cases according to karyotype and RUNX1 and FLT3 mutation
| Patient . | Diagnosis . | Karyotype . | RUNX1 mutation* . | RUNX1 allele status . | FLT3 mutation . |
|---|---|---|---|---|---|
| 1 | AL | 47,XX,+13 [20] | [Gly32Asp(+)Ser238SerfsX334] | mut/mut | wt |
| 2 | AML | 47,XX,+13 [10],46,XX [14] | R139X | mut/mut | wt |
| 3 | AML | 47,XX,+13 [3],48,XX,+13,+13 [6],46,XX [11] | Val54ValfsX57 | mut/wt | ND |
| 4 | AML M1 | 47,XX,+13 [2],46,XX [19] | wt | wt/wt | FLT3-LM |
| 5 | AML M1 | 47,XY,+13 [8],48,XY,+13,+13 [13],46,XY [8] | Asn69Ser | mut/wt | wt |
| 6 | AML M1 | 47,XY,+13 [5],46,XY [12] | Gly143GlyfsX45 | mut/mut | wt |
| 7 | AML M2 | 47,XY,+13 [20] | Arg174X | mut/mut | wt |
| 8 | AML M2 | 47,XY,+13 [20] | Leu29Ser | mut/wt | wt |
| 9 | AML M2 | 47,XY,+13 [4],46,XY [16] | wt | wt/wt | wt |
| 10 | AML M2 | 46,XY,+13,+15 [15],46,XY [2] | Val97GlyfsX15 | mut/wt | wt |
| 11 | AML M2 | 47,XY,+13 [2],47,XY,+13,i(17)(q10) [13],46,XY [5] | wt | wt/wt | ND |
| 12 | AML M2 | 94,XXYY,+13,+13 [2],93,XXYY,-7,+13,+13 [5],92,XXYY,-7,+13 [2],46,XY [11] | Ala115LeufsX3 | mut/mut | wt |
| 13 | AML M2 | 47,XY,+13 [12],46,XY [8] | Ser281SerfsX307 | mut/wt | wt |
| 14 | AML M4 | 47,XY,+13 [2],46,XY [18] | Arg174Gln | mut/mut | FLT3-LM |
| 15 | AML M4 | 47,XX,+13 [1],47,XX,+13,der(16)t(11;16)(q11;p13) [3],46,XX [20] | Gly381ValfsX193 | mut/wt | wt |
| 16 | AML M4 | 47,XX,+13 [16],46,XX [4] | Arg177X | mut/wt | wt |
| 17 | AML M4 | 47,XX,+13 [2],46,XX [25] | wt | wt/wt | FLT3-D835 |
| 18 | AML M4 | 48,XX,del(12)(p12),+13,+21 [20] | [Ala297_Glu299delinsLeuGlnHis]+[Asp299GlyfsX5] | mut/wt | wt |
| 19 | AML M5 | 47,XX,+13,der(18)t(11;18)(q23;q23) [20],46,XX [3] | Arg139X | mut/mut | wt |
| 20 | s-AML M2 | 47,XY,+13 [4],46,XY [9] | Ser114Leu | mut/wt | wt |
| Patient . | Diagnosis . | Karyotype . | RUNX1 mutation* . | RUNX1 allele status . | FLT3 mutation . |
|---|---|---|---|---|---|
| 1 | AL | 47,XX,+13 [20] | [Gly32Asp(+)Ser238SerfsX334] | mut/mut | wt |
| 2 | AML | 47,XX,+13 [10],46,XX [14] | R139X | mut/mut | wt |
| 3 | AML | 47,XX,+13 [3],48,XX,+13,+13 [6],46,XX [11] | Val54ValfsX57 | mut/wt | ND |
| 4 | AML M1 | 47,XX,+13 [2],46,XX [19] | wt | wt/wt | FLT3-LM |
| 5 | AML M1 | 47,XY,+13 [8],48,XY,+13,+13 [13],46,XY [8] | Asn69Ser | mut/wt | wt |
| 6 | AML M1 | 47,XY,+13 [5],46,XY [12] | Gly143GlyfsX45 | mut/mut | wt |
| 7 | AML M2 | 47,XY,+13 [20] | Arg174X | mut/mut | wt |
| 8 | AML M2 | 47,XY,+13 [20] | Leu29Ser | mut/wt | wt |
| 9 | AML M2 | 47,XY,+13 [4],46,XY [16] | wt | wt/wt | wt |
| 10 | AML M2 | 46,XY,+13,+15 [15],46,XY [2] | Val97GlyfsX15 | mut/wt | wt |
| 11 | AML M2 | 47,XY,+13 [2],47,XY,+13,i(17)(q10) [13],46,XY [5] | wt | wt/wt | ND |
| 12 | AML M2 | 94,XXYY,+13,+13 [2],93,XXYY,-7,+13,+13 [5],92,XXYY,-7,+13 [2],46,XY [11] | Ala115LeufsX3 | mut/mut | wt |
| 13 | AML M2 | 47,XY,+13 [12],46,XY [8] | Ser281SerfsX307 | mut/wt | wt |
| 14 | AML M4 | 47,XY,+13 [2],46,XY [18] | Arg174Gln | mut/mut | FLT3-LM |
| 15 | AML M4 | 47,XX,+13 [1],47,XX,+13,der(16)t(11;16)(q11;p13) [3],46,XX [20] | Gly381ValfsX193 | mut/wt | wt |
| 16 | AML M4 | 47,XX,+13 [16],46,XX [4] | Arg177X | mut/wt | wt |
| 17 | AML M4 | 47,XX,+13 [2],46,XX [25] | wt | wt/wt | FLT3-D835 |
| 18 | AML M4 | 48,XX,del(12)(p12),+13,+21 [20] | [Ala297_Glu299delinsLeuGlnHis]+[Asp299GlyfsX5] | mut/wt | wt |
| 19 | AML M5 | 47,XX,+13,der(18)t(11;18)(q23;q23) [20],46,XX [3] | Arg139X | mut/mut | wt |
| 20 | s-AML M2 | 47,XY,+13 [4],46,XY [9] | Ser114Leu | mut/wt | wt |
Nomenclature of the mutations is according to den Dunnen and Antonarakis.33
AL indicates acute leukemia; mut, mutated; and ND, not determined.