Acute Myeloid Leukemia (AML) with Maturation

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Primary Author(s)*

Jennelle C. Hodge, PhD, FACMG

Cancer Category/Type

Acute Myeloid Leukemia

Cancer Sub-Classification / Subtype

Acute myeloid leukemia (AML) with maturation

Definition / Description of Disease

This is a distinct entity in the World Health Organization (WHO) classification system within the section of Acute Myeloid Leukemia (AML), Not Otherwise Specified[1]. This entity does not meet the criteria for inclusion in any of the other AML groups (i.e. AML with Recurrent Genetic Abnormalities, AML with Myelodysplasia-Related Changes, or Therapy-Related Myeloid Neoplasms). There is currently no known recurrent chromosomal abnormality associated with this entity[1].

Synonyms / Terminology

American-British (FAB) classification M2[1].

Epidemiology / Prevalence

Accounts for 10% of AML, occurring in all ages including 20% in young patients (<25 years old) and 40% in older patients (≥60 years old)[1].

Clinical Features

Usually presents with symptoms of bone marrow failure, including anemia, thrombocytopenia and neutropenia. There is also variability in the white blood cell and blast counts[1].

Sites of Involvement

Bone marrow, Blood

Morphologic Features

This AML subtype is characterized by the presence of ≥20% blasts in the bone marrow or blood combined with evidence of maturation in the bone marrow; specifically, ≥10% maturing cells of granulocytic lineage and <20% cells of monocyte lineage[1]. The blasts may or may not have azurophilic granulation but Auer rods and hypercullularity are typically observed. Bone marrow cell constitution includes ≥10% promyelocytes, myelocytes and mature nuetrophils, as well as elevated eosinophil precursors which lack the cytological or cytochemical abnormalities characteristic of the abnormal eosinophils in Acute Myeloid Leukemia (AML) with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11. Basophils and mast calls are sometimes increased, and variable dysplasia occurs but ≤50% of cells in two lineages show dysplasia.


The characteristic immunophenotype associated with this entity is listed in the table below. The blasts express one or more of the myeloid-associated antigens, in some cases have a pattern associated with granulocytic differentiation, and typically lack monocytic markers[1].

Finding Marker
Positive (universal) Myeloid-associated antigens (CD13, CD33, CD65, CD11b, and/or CD15)
Positive (subset) KIT(CD117), CD34 and HLA-DR may be present in some blasts
Negative (universal) Monocytic markers (CD14, CD36, CD64)
Negative (subset) CD7 (20-30%), CD56, CD2, CD19 and CD4 are uncommon (~10%; may be found only in immature blasts)

Chromosomal Rearrangements (Gene Fusions)

There is currently no known recurrent chromosomal abnormality associated with this entity.

Chromosomal Rearrangement Genes in Fusion (5’ or 3’ Segments) Pathogenic Derivative Prevalence
EXAMPLE t(9;22)(q34;q11.2) EXAMPLE 3'ABL1 / 5'BCR EXAMPLE der(22) EXAMPLE 5%
EXAMPLE t(8;21)(q22;q22) EXAMPLE 5'RUNX1 / 3'RUNXT1 EXAMPLE der(8) EXAMPLE 5%

Characteristic Chromosomal Aberrations / Patterns

There is currently no known recurrent chromosomal abnormality associated with this entity.

Genomic Gain/Loss/LOH

There is currently no known recurrent chromosomal abnormality associated with this entity.

Chromosome Number Gain/Loss/Amp/LOH Region
EXAMPLE 8 EXAMPLE Gain EXAMPLE chr8:0-1000000
EXAMPLE 7 EXAMPLE Loss EXAMPLE chr7:0-1000000

Gene Mutations (SNV/INDEL)

Currently there is currently no known recurrent gene mutations associated with this entity.

Gene Mutation Oncogene/Tumor Suppressor/Other Presumed Mechanism (LOF/GOF/Other; Driver/Passenger) Prevalence (COSMIC/TCGA/Other)

Other Mutations

Type Gene/Region/Other
Concomitant Mutations EXAMPLE IDH1 R123H
Secondary Mutations EXAMPLE Trisomy 7
Mutually Exclusive EXAMPLE EGFR Amplification

Epigenomics (Methylation)

Not applicable

Genes and Main Pathways Involved


Diagnostic Testing Methods

Histology and immunophenotype

Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications)

The differential diagnosis includes 1) MDS with excess blasts in cases with a low blast percentage, 2) AML without Maturation in cases with a high blast percentage, and 3) Acute Myelomonocytic Leukemia in cases with increased monocytes. Of note, Acute Myeloid Leukemia (AML) with t(8;21)(q22;q22.1);RUNX1-RUNX1T1 typically has overlapping histologic features as AML with Maturation, but the former should be classified according to its genetic abnormality (i.e. as a subcategory of the entity Acute Myeloid Leukemia (AML) with Recurrent Genetic Abnormalities).

Familial Forms

No familial forms currently known.

Other Information

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  1. 1.0 1.1 1.2 1.3 1.4 1.5 1.6 Arber DA, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p158-159.


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