Classification of AML with percentage of blasts required for diagnosis
| Acute promyelocytic leukemia (APL) with t(15;17)(q24.1;q21.2)/PML::RARA ≥ 10% |
| APL with other RARA rearrangements* ≥ 10% |
| AML with t(8;21)(q22;q22.1)/RUNX1::RUNX1T1 ≥ 10% |
| AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)/CBFB::MYH11 ≥ 10% |
| AML with t(9;11)(p21.3;q23.3)/MLLT3::KMT2A ≥ 10% |
| AML with other KMT2A rearrangements† ≥ 10% |
| AML with t(6;9)(p22.3;q34.1)/DEK::NUP214 ≥ 10% |
| AML with inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2)/GATA2; MECOM(EVI1) ≥ 10% |
| AML with other MECOM rearrangements‡ ≥ 10% |
| AML with other rare recurring translocations (see supplemental Table 5) ≥ 10% |
| AML with t(9;22)(q34.1;q11.2)/BCR::ABL1§ ≥ 20% |
| AML with mutated NPM1 ≥ 10% |
| AML with in-frame bZIP CEBPA mutations ≥ 10% |
| AML and MDS/AML with mutated TP53† 10-19% (MDS/AML) and ≥ 20% (AML) |
| AML and MDS/AML with myelodysplasia-related gene mutations 10-19% (MDS/AML) and ≥ 20% (AML) |
| Defined by mutations in ASXL1, BCOR, EZH2, RUNX1, SF3B1, SRSF2, STAG2, U2AF1, or ZRSR2 |
| AML with myelodysplasia-related cytogenetic abnormalities 10-19% (MDS/AML) and ≥ 20% (AML) |
| Defined by detecting a complex karyotype (≥ 3 unrelated clonal chromosomal abnormalities in the absence of other class-defining recurring genetic abnormalities), del(5q)/t(5q)/add(5q), −7/del(7q), +8, del(12p)/t(12p)/add(12p), i(17q), −17/add(17p) or del(17p), del(20q), and/or idic(X)(q13) clonal abnormalities |
| AML not otherwise specified (NOS) 10-19% (MDS/AML) and ≥ 20% (AML) |
| Myeloid sarcoma |
| Acute promyelocytic leukemia (APL) with t(15;17)(q24.1;q21.2)/PML::RARA ≥ 10% |
| APL with other RARA rearrangements* ≥ 10% |
| AML with t(8;21)(q22;q22.1)/RUNX1::RUNX1T1 ≥ 10% |
| AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)/CBFB::MYH11 ≥ 10% |
| AML with t(9;11)(p21.3;q23.3)/MLLT3::KMT2A ≥ 10% |
| AML with other KMT2A rearrangements† ≥ 10% |
| AML with t(6;9)(p22.3;q34.1)/DEK::NUP214 ≥ 10% |
| AML with inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2)/GATA2; MECOM(EVI1) ≥ 10% |
| AML with other MECOM rearrangements‡ ≥ 10% |
| AML with other rare recurring translocations (see supplemental Table 5) ≥ 10% |
| AML with t(9;22)(q34.1;q11.2)/BCR::ABL1§ ≥ 20% |
| AML with mutated NPM1 ≥ 10% |
| AML with in-frame bZIP CEBPA mutations ≥ 10% |
| AML and MDS/AML with mutated TP53† 10-19% (MDS/AML) and ≥ 20% (AML) |
| AML and MDS/AML with myelodysplasia-related gene mutations 10-19% (MDS/AML) and ≥ 20% (AML) |
| Defined by mutations in ASXL1, BCOR, EZH2, RUNX1, SF3B1, SRSF2, STAG2, U2AF1, or ZRSR2 |
| AML with myelodysplasia-related cytogenetic abnormalities 10-19% (MDS/AML) and ≥ 20% (AML) |
| Defined by detecting a complex karyotype (≥ 3 unrelated clonal chromosomal abnormalities in the absence of other class-defining recurring genetic abnormalities), del(5q)/t(5q)/add(5q), −7/del(7q), +8, del(12p)/t(12p)/add(12p), i(17q), −17/add(17p) or del(17p), del(20q), and/or idic(X)(q13) clonal abnormalities |
| AML not otherwise specified (NOS) 10-19% (MDS/AML) and ≥ 20% (AML) |
| Myeloid sarcoma |
Includes AMLs with t(1;17)(q42.3;q21.2)/IRF2BP2::RARA; t(5;17)(q35.1;q21.2)/NPM1::RARA; t(11;17)(q23.2;q21.2)/ZBTB16::RARA; cryptic inv(17q) or del(17) (q21.2q21.2)/STAT5B::RARA, STAT3::RARA; Other genes rarely rearranged with RARA:TBL1XR1 (3q26.3), FIP1L1 (4q12), BCOR (Xp11.4).
Includes AMLs with t(4;11)(q21.3;q23.3)/AFF1::KMT2A#; t(6;11)(q27;q23.3)/AFDN::KMT2A; t(10;11)(p12.3;q23.3)/MLLT10::KMT2A; t(10;11)(q21.3;q23.3)/TET1::KMT2A; t(11;19)(q23.3;p13.1)/KMT2A::ELL; t(11;19)(q23.3;p13.3)/KMT2A::MLLT1 (occurs predominantly in infants and children).
Includes AMLs with t(2;3)(p11∼23;q26.2)/MECOM::?; t(3;8)(q26.2;q24.2)/MYC, MECOM; t(3;12)(q26.2;p13.2)/ETV6::MECOM; t(3;21)(q26.2;q22.1)/MECOM::RUNX1.
The category of MDS/AML will not be used for AML with BCR::ABL1 due to its overlap with progression of CML, BCR::ABL1-positive.