Klassifikation av AML enligt WHO 2022
Subtyper av akut myeloisk leukemi enligt WHO 5th ed (2022) [1]
|
Acute myeloid leukaemia with defining genetic abnormalities |
|
Acute promyelocytic leukaemia with PML::RARA fusion1 Acute myeloid leukaemia with RUNX1::RUNX1T1 fusion1 Acute myeloid leukaemia with CBFB::MYH11 fusion1 Acute myeloid leukaemia with DEK::NUP214 fusion1 Acute myeloid leukaemia with RBM15::MRTFA fusion1 Acute myeloid leukaemia with BCR::ABL1 fusion2 Acute myeloid leukaemia with KMT2A rearrangement1 Acute myeloid leukaemia with MECOM rearrangement1 Acute myeloid leukaemia with NUP98 rearrangement1 Acute myeloid leukaemia with NPM1 mutation1 Acute myeloid leukaemia with CEBPA mutation2 Acute myeloid leukaemia, myelodysplasia-related2,a,b Acute myeloid leukaemia with other defined genetic alterations1,c |
|
Acute myeloid leukaemia, defined by differentiation |
|
Acute myeloid leukaemia with minimal differentiation2 Acute myeloid leukaemia without maturation2 Acute myeloid leukaemia with maturation2 Acute basophilic leukaemia2 Acute myelomonocytic leukaemia2 Acute monocytic leukaemia2 Acute erythroid leukaemia Acute megakaryoblastic leukaemia2 |
|
Myeloid sarcoma |
|
Myeloid sarcoma |
|
Myeloid neoplasms and proliferations associated with antecedent or predisposing conditions |
|
Myeloid neoplasm post cytotoxic therapy Myeloid neoplasms associated with germline predispositiond Myeloid proliferations associated with Down syndrome |
1 AML oavsett blastandel
2 AML vid ≥ 20 % blaster
a Defining cytogenetic abnormalities: Complex karyotype (≥ 3 abnormalities), 5q deletion or loss of 5q due to unbalanced translocation, Monosomy 7, 7q deletion, or loss of 7q due to unbalanced translocation, 11q deletion, 12p deletion or loss of 12p due to unbalanced translocation, Monosomy 13 or 13q deletion, 17p deletion or loss of 17p due to unbalanced translocation, Isochromosome 17q, idic(X)(q13)
b Defining somatic mutations: ASXL1, BCOR, EZH2, SF3B1, SRSF2, STAG2, U2AF1, ZRSR2
c AML with RUNX1T3(CBFA2T3)::GLIS2, AML with KAT6A::CREBBP, AML with FUS::ERG, AML with MNX1::ETV6, AML with NPM1::MLF1
d Myeloid neoplasms with germline predisposition without a pre-existing platelet disorder or organ dysfunction: Germline CEBPA P/LP variant (CEBPA-associated familial AML), Germline DDX41 P/LP variant, Germline TP53 P/LP variant (Li-Fraumeni syndrome); Myeloid neoplasms with germline predisposition and pre-existing platelet disorder: Germline RUNX1 P/LP variant (familial platelet disorder with associated myeloid malignancy, FPD-MM), Germline ANKRD26 P/LP variant, Germline ETV6 P/LP variant; Myeloid neoplasms with germline predisposition and potential organ dysfunction: Germline GATA2 P/LP variant (GATA2-deficiency), Bone marrow failure syndromes (Severe congenital neutropenia, Shwachman-Diamond syndrome, Fanconi anaemia), Telomere biology disorders, RASopathies (Neurofibromatosis type 1, CBL syndrome, Noonan syndrome or Noonan syndrome-like disorders), Down syndrome, Germline SAMD9 P/LP variant (MIRAGE Syndrome), Germline SAMD9L P/LP variant (SAMD9L-related Ataxia Pancytopenia Syndrome), Bi-allelic germline BLM P/LP variant (Bloom syndrome).P = pathogenic, LP = likely pathogenic
Diagnostic criteria [2]
|
Type |
Diagnostic criteria* |
|
AML with minimal differentiation |
• Blasts are negative (<3%) for MPO and SBB by cytochemistry |
|
• Expression of two or more myeloid-associated antigens, such as CD13, CD33, and CD117 |
|
|
AML without maturation |
• ≥3% blasts positive for MPO (by immunophenotyping or cytochemistry) or SBB and negative for NSE by cytochemistry |
|
• Maturing cells of the granulocytic lineage constitute <10 % of the nucleated bone marrow cells |
|
|
• Expression of two or more myeloid-associated antigens, such as MPO, CD13, CD33, and CD117 |
|
|
AML with maturation |
• ≥3% blasts positive for MPO (by immunophenotyping or cytochemistry) or SBB by cytochemistry |
|
• Maturing cells of the granulocytic lineage constitute ≥10 % of the nucleated bone marrow cells |
|
|
• Monocyte lineage cells constitute < 20% of bone marrow cells |
|
|
• Expression of two or more myeloid-associated antigens, such as MPO, CD13, CD33, and CD117 |
|
|
Acute basophilic leukemia |
• Blasts & immature/mature basophils with metachromasia on toluidine blue staining |
|
• Blasts are negative for cytochemical MPO, SBB, and NSE |
|
|
• No expression of strong CD117 equivalent (to exclude mast cell leukemia) |
|
|
Acute myelomonocytic leukaemia |
• ≥20% monocytes and their precursors |
|
• ≥20% maturing granulocytic cells |
|
|
• ≥3% of blasts positive for MPO (by immunophenotyping or cytochemistry) |
|
|
Acute monocytic leukaemia |
• ≥80% monocytes and/or their precursors (monoblasts and/or promonocytes) |
|
• <20% maturing granulocytic cells |
|
|
• Blasts and promonocytes expressing at least two monocytic markers including CD11c, CD14, CD36 and CD64, or NSE positivity on cytochemistry |
|
|
Acute erythroid leukaemia |
• ≥30% immature erythroid cells (proerythroblasts) |
|
• Bone marrow with erythroid predominance, usually ≥80% of cellularity |
|
|
Acute megakaryoblastic leukaemia |
• Blasts express at least one or more of the platelet glycoproteins: CD41 (glycoprotein llb), CD61 (glycoprotein IIIa), or CD42b (glycoprotein lb) |
*Shared diagnostic criteria include:
- ≥20% blasts in bone marrow and/or blood (except for acute erythroid leukaemia).
- Criteria for AML types with defined genetic alterations are not met.
- Criteria for mixed-phenotype acute leukaemia are not met (relevant for AML with minimal differentiation).
- Not fulfilling diagnostic criteria for myeloid neoplasm post cytotoxic therapy.
- No prior history of myeloproliferative neoplasm.
BM bone marrow, MPO myeloperoxidase, NSE nonspecific esterase, PB peripheral blood, SBB Sudan Black B
Referenser
- Cree IA. The WHO Classification of Haematolymphoid Tumours. Leukemia. 2022;36(7):1701-2.
- Khoury JD, Solary E, Abla O, Akkari Y, Alaggio R, Apperley JF, et al. The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms. Leukemia. 2022;36(7):1703-19.