Proposed genetic risk stratification of children with AML for the planned Children’s Oncology Group phase 3 trial (AAML1831)
| High-risk prognostic markers . | Low-risk prognostic markers . |
|---|---|
| MECOM/EVI1 (3q26.2) abnormality52 | t(8;21)(q22;q22) |
| t(6;9)(p23;q34.1) with DEK-NUP214 fusion53 | Inv(16)/t(16;16)(p13.1;q22) |
| Monosomy 7 | NPM1 mutation |
| Monosomy 5/5q− | CEBPA mutation |
| High-risk KMT2A (11q23) rearrangements54 | |
| t(4;11) | |
| t(6;11) | |
| t(10;11)(p11.2;q23) | |
| t(10;11)(p12;q23) | |
| t(11;19)(q23;p13.3) | |
| t(11;17)(q23;q12) | |
| NUP98 (11p15.5) fusions55 | |
| 12p abnormalities (ETV6)56 | |
| ETS fusions2 | |
| FLT3-ITD with AR >0.1 without NPM1 or CEBPA mutation2 | |
| Inv(16) with CBFA2T3-GLIS2 fusion2 | |
| RAM phenotype20 | |
| t(8;16)(p11;p13) with KAT6A-CREBBP fusion2 * | |
| t(10;11)(p12;q21) with PICALM-MLLT10 fusion |
| High-risk prognostic markers . | Low-risk prognostic markers . |
|---|---|
| MECOM/EVI1 (3q26.2) abnormality52 | t(8;21)(q22;q22) |
| t(6;9)(p23;q34.1) with DEK-NUP214 fusion53 | Inv(16)/t(16;16)(p13.1;q22) |
| Monosomy 7 | NPM1 mutation |
| Monosomy 5/5q− | CEBPA mutation |
| High-risk KMT2A (11q23) rearrangements54 | |
| t(4;11) | |
| t(6;11) | |
| t(10;11)(p11.2;q23) | |
| t(10;11)(p12;q23) | |
| t(11;19)(q23;p13.3) | |
| t(11;17)(q23;q12) | |
| NUP98 (11p15.5) fusions55 | |
| 12p abnormalities (ETV6)56 | |
| ETS fusions2 | |
| FLT3-ITD with AR >0.1 without NPM1 or CEBPA mutation2 | |
| Inv(16) with CBFA2T3-GLIS2 fusion2 | |
| RAM phenotype20 | |
| t(8;16)(p11;p13) with KAT6A-CREBBP fusion2 * | |
| t(10;11)(p12;q21) with PICALM-MLLT10 fusion |
AR, allelic ratio; CEBPA, CCAAT enhancer–binding protein-α; CREBBP, CREB-binding protein; ETV6, ETS variant 6; EVI1, ecotropic viral integration site 1; FLT3, FMS-like tyrosine kinase 3; ITD, internal tandem duplication; inv, inversion; KMT2A, lysine methyltransferase 2A; MECOM, MDS and EVI1 complex; NPM1, nucleophosmin 1; NUP98, nucleoporin 98; t, translocation.
Possible inclusion as high-risk alteration.