Acute myeloid leukemia and related precursor neoplasms, and acute leukemias of ambiguous lineage (WHO 2008)
| Categories . |
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| Acute myeloid leukemia with recurrent genetic abnormalities |
| AML with t(8;21)(q22;q22); RUNX1-RUNX1T1 |
| AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11 |
| APL with t(15;17)(q22;q12); PML-RARA* |
| AML with t(9;11)(p22;q23); MLLT3-MLL† |
| AML with t(6;9)(p23;q34); DEK-NUP214 |
| AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2); RPN1-EVI1 |
| AML (megakaryoblastic) with t(1;22)(p13;q13); RBM15-MKL1 |
| Provisional entity: AML with mutated NPM1 |
| Provisional entity: AML with mutated CEBPA |
| Acute myeloid leukemia with myelodysplasia-related changes‡ |
| Therapy-related myeloid neoplasms§ |
| Acute myeloid leukemia, not otherwise specified (NOS) |
| Acute myeloid leukemia with minimal differentiation |
| Acute myeloid leukemia without maturation |
| Acute myeloid leukemia with maturation |
| Acute myelomonocytic leukemia |
| Acute monoblastic/monocytic leukemia |
| Acute erythroid leukemia |
| Pure erythroid leukemia |
| Erythroleukemia, erythroid/myeloid |
| Acute megakaryoblastic leukemia |
| Acute basophilic leukemia |
| Acute panmyelosis with myelofibrosis (syn.: acute myelofibrosis; acute myelosclerosis) |
| Myeloid sarcoma (syn.: extramedullary myeloid tumor; granulocytic sarcoma; chloroma) |
| Myeloid proliferations related to Down syndrome |
| Transient abnormal myelopoiesis (syn.: transient myeloproliferative disorder) |
| Myeloid leukemia associated with Down syndrome |
| Blastic plasmacytoid dendritic cell neoplasm |
| Acute leukemias of ambiguous lineage |
| Acute undifferentiated leukemia |
| Mixed phenotype acute leukemia with t(9;22)(q34;q11.2); BCR-ABL1‖ |
| Mixed phenotype acute leukemia with t(v;11q23); MLL rearranged |
| Mixed phenotype acute leukemia, B/myeloid, NOS |
| Mixed phenotype acute leukemia, T/myeloid, NOS |
| Provisional entity: Natural killer (NK)–cell lymphoblastic leukemia/lymphoma |
| Categories . |
|---|
| Acute myeloid leukemia with recurrent genetic abnormalities |
| AML with t(8;21)(q22;q22); RUNX1-RUNX1T1 |
| AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11 |
| APL with t(15;17)(q22;q12); PML-RARA* |
| AML with t(9;11)(p22;q23); MLLT3-MLL† |
| AML with t(6;9)(p23;q34); DEK-NUP214 |
| AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2); RPN1-EVI1 |
| AML (megakaryoblastic) with t(1;22)(p13;q13); RBM15-MKL1 |
| Provisional entity: AML with mutated NPM1 |
| Provisional entity: AML with mutated CEBPA |
| Acute myeloid leukemia with myelodysplasia-related changes‡ |
| Therapy-related myeloid neoplasms§ |
| Acute myeloid leukemia, not otherwise specified (NOS) |
| Acute myeloid leukemia with minimal differentiation |
| Acute myeloid leukemia without maturation |
| Acute myeloid leukemia with maturation |
| Acute myelomonocytic leukemia |
| Acute monoblastic/monocytic leukemia |
| Acute erythroid leukemia |
| Pure erythroid leukemia |
| Erythroleukemia, erythroid/myeloid |
| Acute megakaryoblastic leukemia |
| Acute basophilic leukemia |
| Acute panmyelosis with myelofibrosis (syn.: acute myelofibrosis; acute myelosclerosis) |
| Myeloid sarcoma (syn.: extramedullary myeloid tumor; granulocytic sarcoma; chloroma) |
| Myeloid proliferations related to Down syndrome |
| Transient abnormal myelopoiesis (syn.: transient myeloproliferative disorder) |
| Myeloid leukemia associated with Down syndrome |
| Blastic plasmacytoid dendritic cell neoplasm |
| Acute leukemias of ambiguous lineage |
| Acute undifferentiated leukemia |
| Mixed phenotype acute leukemia with t(9;22)(q34;q11.2); BCR-ABL1‖ |
| Mixed phenotype acute leukemia with t(v;11q23); MLL rearranged |
| Mixed phenotype acute leukemia, B/myeloid, NOS |
| Mixed phenotype acute leukemia, T/myeloid, NOS |
| Provisional entity: Natural killer (NK)–cell lymphoblastic leukemia/lymphoma |
Adopted from reference 3; for a diagnosis of AML, a marrow blast count of≥ 20% is required, except for AML with the recurrent genetic abnormalities t(15;17), t(8;21), inv(16) or t(16;16) and some cases of erythroleukemia.
Other recurring translocations involving RARA should be reported accordingly: for example, AML with t(11;17)(q23;q12); ZBTB16-RARA; AML with t(11;17)(q13;q12); NUMA1-RARA; AML with t(5;17)(q35;q12); NPM1-RARA; or AML with STAT5B-RARA (the latter having a normal chromosome 17 on conventional cytogenetic analysis).
Other translocations involving MLL should be reported accordingly: for example, AML with t(6;11)(q27;q23); MLLT4-MLL; AML with t(11;19)(q23;p13.3); MLL-MLLT1; AML with t(11;19)(q23;p13.1); MLL-ELL; AML with t(10;11)(p12;q23); MLLT10-MLL.
More than 20% blood or marrow blasts AND any of the following: previous history of myelodysplastic syndrome (MDS), or myelodysplastic/myeloproliferative neoplasm (MDS/MPN); myelodysplasia-related cytogenetic abnormality (see below); multilineage dysplasia; AND absence of both prior cytotoxic therapy for unrelated disease and aforementioned recurring genetic abnormalities; cytogenetic abnormalities sufficient to diagnose AML with myelodysplasia-related changes are:
- Complex karyotype (defined as 3 or more chromosomal abnormalities).
- Unbalanced changes: −7 or del(7q); −5 or del(5q); i(17q) or t(17p); −13 or del(13q); del(11q); del(12p) or t(12p); del(9q); idic(X)(q13).
- Balanced changes: t(11;16)(q23;p13.3); t(3;21)(q26.2;q22.1); t(1;3)(p36.3;q21.1); t(2;11)(p21;q23); t(5;12)(q33;p12); t(5;7)(q33;q11.2); t(5;17)(q33;p13); t(5;10)(q33;q21); t(3;5)(q25;q34).
Cytotoxic agents implicated in therapy-related hematologic neoplasms: alkylating agents; ionizing radiation therapy; topoisomerase II inhibitors; others.
BCR-ABL1–positive leukemia may present as mixed phenotype acute leukemia, but should be treated as BCR-ABL1–positive acute lymphoblastic leukemia.