Table 1.
The clinical features of de novo pediatric AML patients with novel/rare fusions
| RNA no. | Novel/rare | Fusion gene | Sex | Age, y | WBC, 109/L | FAB | Risk | Chromosome | FLT3-ITD | SCT | Relapse | Outcome |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 273 | Rare | RUNX1-CBFA2T2 | M | 1.5 | 43.3 | M1 | Int | 47,XY,+8,t(14;20)(q11.2;q11.2),del(21)(q21q22)[20] | − | − | − | Alive |
| 227 | Rare | RUNX1-CBFA2T3 | F | 4.4 | 5.0 | M1 | Int | 46,XX,t(16;21)(q24;q22)[4]/46,sl,t(1;16)(q32;p13.3)[16] | − | − | − | Alive |
| 308 | Rare | RUNX1-CBFA2T3 | F | 1.6 | 35.4 | M4 | Int | 46,XX,add(2)(q31),t(16;21)(q24;q22)[5]/45,sl,+2,-add(2),-11,add(18)(p11.2)[12]/91,sl,×2,-11[2] | − | − | − | Alive |
| 177 | Rare | RUNX1-PRDM16 | M | 2.9 | 25.2 | RAEB-T | Non-CR | 45,XY,−7[1]/45, sl, t(11;21)(q13;q22)[19] | − | + | − | Dead |
| 440 | Novel | RUNX1-FNBP1 | F | 0.2 | 10.0 | M1 | Int | 46,XX,add(7)(q11.2),add(8)(q34),add(12)(p13)[20] | − | − | − | Alive |
| 104 | Rare | KAT6A-CREBBP | F | 17 | 10.6 | M4 | Int | 46,XX,t(8;16)(p11.2:p13.3)[19]/46,XX[1] | − | − | − | Alive |
| 216 | Rare | KAT6A-CREBBP | M | 15.3 | 18.1 | M5a | Int | 46,XY,t(8;16)(p11.2;p13.3)[20] | − | − | + | Dead |
| 271 | Rare | KAT6A-CREBBP | M | 1.8 | 9.8 | M5b | Int | 46,XY,add(7)(q22),t(8;16)(p11.2;p13.3)[17]/46,XY[3] | − | − | − | Alive |
| 331 | Rare | ETV6-CTNNB1 | M | 4.8 | 2.2 | M5a | Int | 46,XY,add(3)(p21),inv(9)(p12q13),add(12)(p11.2)[7]/46,idem,del(20)(q11.2q13.3),add(22)(q11.2)[11]/46,XY,inv(9)(p12q13)[2] | − | + | + | Dead |
| 45 | Rare | ETV6-MECOM | M | 4.8 | 33.9 | M5a | Non-CR | 45,XY,-7[1]/45,sl,t(3;12)(q26;p13)[18]/46,XY[1] | − | + | + | Dead |
| 333 | Rare | ETV6-NCOA2 | F | 9.8 | 4.1 | M0 | Int | 46,XX,t(8;12)(q11.2;p11.2)[20] | − | − | − | Alive |
| 73 | Rare | MYB-GATA1 | M | 0.3 | 20.2 | M5a | IR | 47,Y,del(X)(p11.2), -6,+8,+r[15]/46,Y,del(X)(p11.2),-6, add(19)(p13.1), +r[2]/46, XY[3] | − | − | − | Alive |
| 171 | Novel | NPM1-CCDC28A TRIP12-NPM1 | F | 1.4 | 16.6 | M2 | High | 46,XX,add(2)(q31),add(5)(q35),add(6)(q15)[13]/46,XX[7] | + | + | − | Dead |
| 58 | Rare | NPM1-MLF1 | M | 12.9 | 14.4 | RAEB-T | Int | 46,XY,t(3;5)(q24;q33)[20] | − | + | − | Alive |
| 274 | Rare | PICALM-MLLT10 | F | 8.2 | 0.9 | M1 | Int | 46,XX,t(10;11)(p12;q14)[19]/46,XX[1] | − | + | + | Dead |
| 30 | Rare/novel | PICALM-MLLT10 MLLT10-DNAJC1 | F | 4.1 | 26.5 | M5a | Int | 46,XX,add(9)(q27),add(8)(p11.2),t(10;11)(p12;q14),-16,add(19)(p13),+r1[13]/46,XX[7] | − | − | − | Alive |
| 436 | Rare | PICALM-MLLT10 | M | 10.2 | 29.9 | M5a | Int | 46,XY,add(1)(p36.1),add(5)(q31),add(7)(q22),del(9)(q),t(10;11)(p12;q14),add(17)(p11.2)[1]/46,sl,add(3)(q11.2),-9,+mar1[4]/46,sdl1,-4,-15,+der(?)t(?;4)(?;q12),+mar2[11]/46,XY[4] | − | + | + | Alive |
| 161 | Novel | TBL1XR1-RARB | F | 0.9 | 30.5 | M3 | Int | 47,XX,+6[2]/46,XX | − | + | + | Alive |
| 5 | Rare | RBM15-MKL1 | M | 0.8 | 12.0 | M7 | Int | 61,XXX,der(1)t(1;22)(p13;q13),t(1;22)(p13;q13),-3,-4,-5,+7,-9,-11,-12,-13,-15,-18,+19,-22[10]/46,XX[10] | − | + | + | Dead |
| 162 | Rare | RBM15-MKL1 | F | 0.1 | 42.2 | M7 | Int | 46,XY,der(1)t(1;22)(p13;q13)add(1)(q32),der(22)t(1;22)(add(1)(p22)[15]/46,XY[5] | − | − | − | Alive |
F, female; Int, intermediate; M, male; SCT, stem cell transplantation; WBC, white blood cell count.