WHO classifications of “AML with recurrent genetic abnormalities”
| WHO 2001 . | WHO 2008 . |
|---|---|
| AML with t(8;21)(q22;q22), (AML1/ETO) | AML with t(8;21)(q22;q22); RUNX1-RUNX1T1 |
| AML with inv(16)(p13q22) or t(16;16)(p13;q22), (CBFβ/MYH11) | AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFβ/MYH11 |
| Acute promyelocytic leukemia AML with t(15;17)(q22;q12), (PML/RARα) and variants | Acute promyelocytic leukemia AML with t(15;17)(q22;q12); PML/RARα* |
| AML with 11q23 (MLL) abnormalities | AML with t(9;11)(p22;q23); MLLT3-MLL† |
| AML with t(6;9)(p23;q34); DEK-NUP214 | |
| AML with inv(3)(q21;q26.2) or t(3;3) (q21;q26.2); RPN1-EVI1 | |
| AML (megakaryoblastic) with t(1;22)(p13;q13); RBM15-MKL1 | |
| AML with mutated NPM1 (provisional entity)‡ | |
| AML with mutated CEBPA (provisional entity)‡ |
| WHO 2001 . | WHO 2008 . |
|---|---|
| AML with t(8;21)(q22;q22), (AML1/ETO) | AML with t(8;21)(q22;q22); RUNX1-RUNX1T1 |
| AML with inv(16)(p13q22) or t(16;16)(p13;q22), (CBFβ/MYH11) | AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFβ/MYH11 |
| Acute promyelocytic leukemia AML with t(15;17)(q22;q12), (PML/RARα) and variants | Acute promyelocytic leukemia AML with t(15;17)(q22;q12); PML/RARα* |
| AML with 11q23 (MLL) abnormalities | AML with t(9;11)(p22;q23); MLLT3-MLL† |
| AML with t(6;9)(p23;q34); DEK-NUP214 | |
| AML with inv(3)(q21;q26.2) or t(3;3) (q21;q26.2); RPN1-EVI1 | |
| AML (megakaryoblastic) with t(1;22)(p13;q13); RBM15-MKL1 | |
| AML with mutated NPM1 (provisional entity)‡ | |
| AML with mutated CEBPA (provisional entity)‡ |
The rare variant translocations of RARα with partner genes other than PML are recognized separately because they may exhibit atypical APL features, including resistance to all-trans-retinoic acid therapy.
Compared with the 2001 WHO scheme, the category of AML with MLL gene abnormalities of 2008 WHO classification only includes AML with MLLT3-MLL. Rearrangements of MLLT3-MLL should be specified in the diagnosis. Partial tandem duplication of MLL should not be placed in this category.
Defined as “provisional” to indicate that more study is needed to characterize and establish them as unique entities.