AMKL samples analyzed for KIT, FLT3, JAK2, JAK3, and MPLmutations
| Patient no. . | Age . | Sex . | % Blasts . | Karyotype . | GATA-1 mutations . | JAK2, JAK3, FLT3, KIT, and MPL changes . |
|---|---|---|---|---|---|---|
| Down syndrome | ||||||
| AMKL | ||||||
| 11 | 10m | F | 22 | Random aberration,+21c | + | − |
| 15 | 14m | M | 31 | 48,XY,+8,+21c | nd | FLT3 D835Y |
| 16 | 15m | F | 20 | na | nd | JAK3 V722I |
| 18 | 13m | F | 43 | 47,XX,+21c,del(6q) | + | − |
| 19 | 11m | F | 14 | 44∼46,XX,−4,−9,−16,+21c[cp7]/47,XX,+21c[7] | nd | FLT3 D835Y |
| 20 | 8m | F | 80 | Random aberration | + | JAK2 V617F |
| 30 | 18m | M | na | 47,XX,+21c/49,XX,inv(9)(p11;q12),+21c,+21c,+21c | + | − |
| Non-AMKL | ||||||
| 58 (TMD) | 2d | F | 14 | 47,XX,+21c | + | − |
| 85 (TMD) | 1m | M | na | 47,XY,+21[19]/46,XY[3] | + | − |
| 60 (AML) | 24m | M | 88 | 47,XY,+21c | + | − |
| 63 (AML) | 24m | F | 59 | 47,XX,+21c | + | − |
| Non–Down syndrome | ||||||
| Child AMKL | ||||||
| 69 | 1d | M | 90 | +21a | + | FLT3-ITD |
| 24 | 51m | M | 58 | Random aberration | nd | MPL T487A |
| 28 | 8m | F | 57 | 46, XX | nd | KIT D816V |
| 29 | 11y | M | 46 | 45,XY,inv(3)(q21q23),−7 | nd | − |
| 31 | 13m | M | na | 47XY,+2,+15,−19,t(7;8) | nd | JAK2 M535I |
| 33 | 16m | M | 31 | 46, XY | − | − |
| 34 | 33m | M | 40 | 46, XY | − | − |
| 35 | 20m | F | 73 | 47,XX,+3[4]/46,XX[21] | − | − |
| 36 | 30m | M | 80 | 46,XY,random aberration[7]/46,XY[15] | − | − |
| 37 | 36m | M | 74 | 46,XY,add(2)(q37),ins(3;?)(q21;?),del(5)(q13q22),−7,−9,add(16)(q24),+min,+mar | − | − |
| 38 | 24m | F | 60 | 46,XX,del(9)(p21)[1]/46,X,t(X;21)(q24;q21),del(9)(p21),+19[19] | − | − |
| 41 | 7m | M | 47 | 64-65,XY,t(1;8)(p32;q24),+2,+3,+4,+5,+6,+8,+9,+10,+19,−20,+22 | − | − |
| 44 | 8m | M | na | 6, XY[20] | − | − |
| 45 | 3m | M | 73 | 6, XY[20] | − | − |
| 46 | 26y | M | 15 | nd | − | − |
| 47 | 38m | M | 72 | nd | nd | − |
| 49 | 11m | M | 80 | nd | − | − |
| 66 | 14m | F | 83 | 46,XX,der(5),der(6),t(6;17)(p22;q22) del(6)(p22-pter)der(7)t(5;7)(?q;q31)del(7)(q31-qter),der(17)t(5;17)(?q;q22)[20] | − | − |
| 83 | 22m | M | 83 | nd | nd | − |
| 86 | 6y | M | 86 | 46,XY | nd | − |
| Adult AMKL | ||||||
| 48 | 62y | F | 62 | nd | − | − |
| 39 | 58y | M | 70 | 46,XY,−3,−5,del(7)(q21q33),der(20) t(3;20)(q23;q12),+21,+22[2]/88,XYY,−X,+Y,−4,−5,−5,+6,−7,+8,−9,−9,−11,del(12)(p12),+13,−14,−16,−17,−18,+19,+19,der(20)t(3;20)x2,+21,+21[18] | − | − |
| 54 | 40y | F | 42 | nd | nd | − |
| 71 | 67y | M | 50 | nd | nd | − |
| 72 | 47y | M | 90 | Complex aberrations | nd | − |
| 74 | 76y | F | 60 | 46,XX | nd | − |
| 82 | 45y | M | 71 | nd | − | − |
| 84 | 38y | M | na | nd | − | − |
| DS-AMKL | 20m | M | 40 | na | + | JAK2V617F |
| Cell lines | ||||||
| CMK | 10m | M | Complex hypotetraploid karyotype | + | JAK3A572V | |
| CMY | M | Complex hypotetraploid karyotype | + | JAK3A573V |
| Patient no. . | Age . | Sex . | % Blasts . | Karyotype . | GATA-1 mutations . | JAK2, JAK3, FLT3, KIT, and MPL changes . |
|---|---|---|---|---|---|---|
| Down syndrome | ||||||
| AMKL | ||||||
| 11 | 10m | F | 22 | Random aberration,+21c | + | − |
| 15 | 14m | M | 31 | 48,XY,+8,+21c | nd | FLT3 D835Y |
| 16 | 15m | F | 20 | na | nd | JAK3 V722I |
| 18 | 13m | F | 43 | 47,XX,+21c,del(6q) | + | − |
| 19 | 11m | F | 14 | 44∼46,XX,−4,−9,−16,+21c[cp7]/47,XX,+21c[7] | nd | FLT3 D835Y |
| 20 | 8m | F | 80 | Random aberration | + | JAK2 V617F |
| 30 | 18m | M | na | 47,XX,+21c/49,XX,inv(9)(p11;q12),+21c,+21c,+21c | + | − |
| Non-AMKL | ||||||
| 58 (TMD) | 2d | F | 14 | 47,XX,+21c | + | − |
| 85 (TMD) | 1m | M | na | 47,XY,+21[19]/46,XY[3] | + | − |
| 60 (AML) | 24m | M | 88 | 47,XY,+21c | + | − |
| 63 (AML) | 24m | F | 59 | 47,XX,+21c | + | − |
| Non–Down syndrome | ||||||
| Child AMKL | ||||||
| 69 | 1d | M | 90 | +21a | + | FLT3-ITD |
| 24 | 51m | M | 58 | Random aberration | nd | MPL T487A |
| 28 | 8m | F | 57 | 46, XX | nd | KIT D816V |
| 29 | 11y | M | 46 | 45,XY,inv(3)(q21q23),−7 | nd | − |
| 31 | 13m | M | na | 47XY,+2,+15,−19,t(7;8) | nd | JAK2 M535I |
| 33 | 16m | M | 31 | 46, XY | − | − |
| 34 | 33m | M | 40 | 46, XY | − | − |
| 35 | 20m | F | 73 | 47,XX,+3[4]/46,XX[21] | − | − |
| 36 | 30m | M | 80 | 46,XY,random aberration[7]/46,XY[15] | − | − |
| 37 | 36m | M | 74 | 46,XY,add(2)(q37),ins(3;?)(q21;?),del(5)(q13q22),−7,−9,add(16)(q24),+min,+mar | − | − |
| 38 | 24m | F | 60 | 46,XX,del(9)(p21)[1]/46,X,t(X;21)(q24;q21),del(9)(p21),+19[19] | − | − |
| 41 | 7m | M | 47 | 64-65,XY,t(1;8)(p32;q24),+2,+3,+4,+5,+6,+8,+9,+10,+19,−20,+22 | − | − |
| 44 | 8m | M | na | 6, XY[20] | − | − |
| 45 | 3m | M | 73 | 6, XY[20] | − | − |
| 46 | 26y | M | 15 | nd | − | − |
| 47 | 38m | M | 72 | nd | nd | − |
| 49 | 11m | M | 80 | nd | − | − |
| 66 | 14m | F | 83 | 46,XX,der(5),der(6),t(6;17)(p22;q22) del(6)(p22-pter)der(7)t(5;7)(?q;q31)del(7)(q31-qter),der(17)t(5;17)(?q;q22)[20] | − | − |
| 83 | 22m | M | 83 | nd | nd | − |
| 86 | 6y | M | 86 | 46,XY | nd | − |
| Adult AMKL | ||||||
| 48 | 62y | F | 62 | nd | − | − |
| 39 | 58y | M | 70 | 46,XY,−3,−5,del(7)(q21q33),der(20) t(3;20)(q23;q12),+21,+22[2]/88,XYY,−X,+Y,−4,−5,−5,+6,−7,+8,−9,−9,−11,del(12)(p12),+13,−14,−16,−17,−18,+19,+19,der(20)t(3;20)x2,+21,+21[18] | − | − |
| 54 | 40y | F | 42 | nd | nd | − |
| 71 | 67y | M | 50 | nd | nd | − |
| 72 | 47y | M | 90 | Complex aberrations | nd | − |
| 74 | 76y | F | 60 | 46,XX | nd | − |
| 82 | 45y | M | 71 | nd | − | − |
| 84 | 38y | M | na | nd | − | − |
| DS-AMKL | 20m | M | 40 | na | + | JAK2V617F |
| Cell lines | ||||||
| CMK | 10m | M | Complex hypotetraploid karyotype | + | JAK3A572V | |
| CMY | M | Complex hypotetraploid karyotype | + | JAK3A573V |
na indicates not available; and nd, not determined.