Gene alterations of MPN patients with leukemic transformation
| Case no. . | Age at LT, y . | Sex . | MPN diagnosis . | Advanced therapy . | MPN to LT, mo . | Karyotype . | JAK2V617F . | Other mutations* . | |||
|---|---|---|---|---|---|---|---|---|---|---|---|
| CP . | LT . | CP . | LT . | CP . | LT . | ||||||
| LT1 | 64 | M | PV | BUS | 60 | 46,XY[20/20] | 46,XY[15/20]/47,XY,+mar[5/20] | ND | + | ND | AML1 D171N† |
| LT2 | 80 | M | PV | HU | 27 | 46,XY[20/20] | 46,XY[20/20] | ND | + | ND | AML1 D66F,P68A,N69_S78del† |
| LT3 | 71 | M | PV | HU,MCNU | 108 | 46,XY,add(18)(p11.1) [20/20] | 46,X,−Y,add(18)(p11.1),+der(?)t(?;1)(?;q21)[6/20] /46,idem,add(6)(p21)[14/20] | + | + | − | − |
| LT4 | 59 | M | PV, post-PV MF | HU,6-MP,IFN-α | 132 | 46,XY,del(20)(q11) [20/20] | 46,XY,del(20)(q11)[20/20] | + | + | − | SHP2 P491A |
| LT5 | 66 | M | PV, post-PV MF | IFN-α,HU | 202 | 46,XY[20/20] | 46,XY,+1,der(1;15)(q10;q10)[7/20]/ 46,X,der(Y)t(Y;1)(q12;q12)[3/20]/46,XY[8/20] | + | + | − | − |
| LT6 | 67 | M | PV, post-PV MF | HU,MCNU,BUS,VD3 | 116 | 46,XY[20/20] | 43−45,XY,der(3;22)(q10;q10),der(5)t(5;17)(q13;q21),−7,add(10)(p15),−17,−17,−18,+r,+mar1,+mar2[cp20] | + | + | − | − |
| LT7 | 54 | F | ET | BUS, HU | 182 | 46,XX[20/20] | 46,XX,−18,+r[20/20] | − | − | − | AML1 P173S† |
| LT8 | 59 | F | ET, post-ET MF | HU,BUS | 43 | 46,XX[11/11] | 46,XX,inv(3)(q21q26)[15/20]/46,XX[3/20] | − | − | − | − |
| LT9 | 75 | M | ET, post-ET MF | BUS,HU | 324 | 46,XY[20/20] | 46,XY[20/20] | − | − | − | − |
| LT10 | 46 | F | ET, post-ET MF | HU | 84 | 46,XX[20/20] | 46,XX[2/2] poor mitosis | + | + | − | − |
| LT11 | 64 | F | ET, post-ET MF | HU | 80 | 46,XX[20/20] | 46,XX[20/20] | + | + | − | − |
| LT12 | 57 | F | ET, post-ET MF | BUS | 192 | 46,XX[20/20] | 49,XX,add(1)(q21),+add(1)(p11)x3,del(7)(q22),-9,+21[2/2] poor mitosis | ND | + | ND | − |
| LT13 | 72 | F | ET, PV, post-PV MF | BUS,HU | 94 | 46,XX[20/20] | 46,XX[20/20] | + | + | − | C/EBPα F106fsX154 |
| LT14 | 73 | M | ET, PV, post-PV MF | HU,VD3,MNL | 204 | No mitosis | 49,XY,der(1;7)(q10;p10),+8,+9,+21[20/20] | + | + | − | − |
| LT15 | 61 | F | PMF | IFN-α,VD3 | 44 | No mitosis | 49,XX,+der(1;7)(q10;p10),−7,+8,+9,+21[20/20] | + | + | − | AML1 A122fsX123‡ |
| LT16 | 78 | F | PMF | None | 4 | No mitosis | 46,XX,+der(1;7)(q10;p10),−7,+9,21[12/20]/46,XX,+der(1;7)(q10;p10),−7,+8,+9[8/20] | ND | + | ND | AML1 G143fsX214‡ |
| LT17 | 61 | M | PMF | PSL,MNL,VP16 | 12 | 46,XY[2/2] poor mitosis | 46,XY,del(11)(q?),t(11;19)(q23;p13.3), del(20)(q11q13.3) [20/20] | + | + | − | − |
| LT18 | 75 | F | PMF | VD3 | 52 | 46,XX[20/20] | 47,XX,+13,i(17)(q10)[11/20]/46,XX,i(17)(q10)[9/20] | − | − | − | − |
| Case no. . | Age at LT, y . | Sex . | MPN diagnosis . | Advanced therapy . | MPN to LT, mo . | Karyotype . | JAK2V617F . | Other mutations* . | |||
|---|---|---|---|---|---|---|---|---|---|---|---|
| CP . | LT . | CP . | LT . | CP . | LT . | ||||||
| LT1 | 64 | M | PV | BUS | 60 | 46,XY[20/20] | 46,XY[15/20]/47,XY,+mar[5/20] | ND | + | ND | AML1 D171N† |
| LT2 | 80 | M | PV | HU | 27 | 46,XY[20/20] | 46,XY[20/20] | ND | + | ND | AML1 D66F,P68A,N69_S78del† |
| LT3 | 71 | M | PV | HU,MCNU | 108 | 46,XY,add(18)(p11.1) [20/20] | 46,X,−Y,add(18)(p11.1),+der(?)t(?;1)(?;q21)[6/20] /46,idem,add(6)(p21)[14/20] | + | + | − | − |
| LT4 | 59 | M | PV, post-PV MF | HU,6-MP,IFN-α | 132 | 46,XY,del(20)(q11) [20/20] | 46,XY,del(20)(q11)[20/20] | + | + | − | SHP2 P491A |
| LT5 | 66 | M | PV, post-PV MF | IFN-α,HU | 202 | 46,XY[20/20] | 46,XY,+1,der(1;15)(q10;q10)[7/20]/ 46,X,der(Y)t(Y;1)(q12;q12)[3/20]/46,XY[8/20] | + | + | − | − |
| LT6 | 67 | M | PV, post-PV MF | HU,MCNU,BUS,VD3 | 116 | 46,XY[20/20] | 43−45,XY,der(3;22)(q10;q10),der(5)t(5;17)(q13;q21),−7,add(10)(p15),−17,−17,−18,+r,+mar1,+mar2[cp20] | + | + | − | − |
| LT7 | 54 | F | ET | BUS, HU | 182 | 46,XX[20/20] | 46,XX,−18,+r[20/20] | − | − | − | AML1 P173S† |
| LT8 | 59 | F | ET, post-ET MF | HU,BUS | 43 | 46,XX[11/11] | 46,XX,inv(3)(q21q26)[15/20]/46,XX[3/20] | − | − | − | − |
| LT9 | 75 | M | ET, post-ET MF | BUS,HU | 324 | 46,XY[20/20] | 46,XY[20/20] | − | − | − | − |
| LT10 | 46 | F | ET, post-ET MF | HU | 84 | 46,XX[20/20] | 46,XX[2/2] poor mitosis | + | + | − | − |
| LT11 | 64 | F | ET, post-ET MF | HU | 80 | 46,XX[20/20] | 46,XX[20/20] | + | + | − | − |
| LT12 | 57 | F | ET, post-ET MF | BUS | 192 | 46,XX[20/20] | 49,XX,add(1)(q21),+add(1)(p11)x3,del(7)(q22),-9,+21[2/2] poor mitosis | ND | + | ND | − |
| LT13 | 72 | F | ET, PV, post-PV MF | BUS,HU | 94 | 46,XX[20/20] | 46,XX[20/20] | + | + | − | C/EBPα F106fsX154 |
| LT14 | 73 | M | ET, PV, post-PV MF | HU,VD3,MNL | 204 | No mitosis | 49,XY,der(1;7)(q10;p10),+8,+9,+21[20/20] | + | + | − | − |
| LT15 | 61 | F | PMF | IFN-α,VD3 | 44 | No mitosis | 49,XX,+der(1;7)(q10;p10),−7,+8,+9,+21[20/20] | + | + | − | AML1 A122fsX123‡ |
| LT16 | 78 | F | PMF | None | 4 | No mitosis | 46,XX,+der(1;7)(q10;p10),−7,+9,21[12/20]/46,XX,+der(1;7)(q10;p10),−7,+8,+9[8/20] | ND | + | ND | AML1 G143fsX214‡ |
| LT17 | 61 | M | PMF | PSL,MNL,VP16 | 12 | 46,XY[2/2] poor mitosis | 46,XY,del(11)(q?),t(11;19)(q23;p13.3), del(20)(q11q13.3) [20/20] | + | + | − | − |
| LT18 | 75 | F | PMF | VD3 | 52 | 46,XX[20/20] | 47,XX,+13,i(17)(q10)[11/20]/46,XX,i(17)(q10)[9/20] | − | − | − | − |
MPN indicates myeloproliferative neoplasm; PV, polycythemia vera; ET, essential thrombocytosis; MF, myelofibrosis; PMF, primary myelofibrosis; BUS, busulfan; HU, hydroxycarbamide; 6-MP, 6-mercaptopurine; IFN-α, interferon-α; VP16, etoposide; MCNU, ranimustine; VD3, vitamin D3; PSL, prednisolone; MNL, metenolone; CP, chronic phase; LT, leukemic transformation; ND, not done; +, positive; and −, negative.
Other mutations include the mutations of AML1, C/EBPα, N-RAS, SHP2, FLT-3, C-KIT, and TP53.
Missense/deletion mutations in the runt homology domain.
Frame-shift mutations in the runt homology domain resulting in truncated forms of AML1.