Canterbury DHB


Laboratory Diagnosis

The diagnosis is established by the laboratory investigations outlined below:

Integration of the above findings leads to the precise diagnosis being established. We are currently using the WHO 2016 Classification. When all the laboratory tests have been completed, the laboratory sends out a Summary of Laboratory Findings report.

In This Section

Morphology of Blood and Bone Marrow



DNA Analysis

The Decision to Treat

Morphology of Blood and Bone Marrow

The blood changes are quite variable but usually show a normocytic anaemia, neutropenia, and thrombocytopenia. The proportion of blast cells in the blood ranges from barely detectable to 300–400 x109/L. A bone marrow is usually performed in order to establish the diagnosis and to carry out the further tests listed below. If the blast count is very high a bone marrow may not be required. In AML the blast cells are myeloblasts, and in general more than 20% need to be present in the bone marrow to establish a diagnosis of acute leukaemia.


The primitive leukaemic cells carry antigens on their surface/cytoplasm that indicate a myeloid origin in patients with AML. These may be stem cell antigens (CD34), myeloid antigens (CDs 117,13,33), monocytic antigens (CD14). Rarely, erythroid (Glycophorin A) or megakaryocyte (CDs 42b or 61) markers may be present. On occasion, markers ordinarily found on lymphoid cells may be detected (e.g., CD2) and this aberrant phenotype may be useful in residual disease monitoring. Biphenotypic (lymphoid and myeloid) acute leukaemias do occur, but are rare.

For a full account of immunophenotyping in AML, refer to the WHO Classification of Tumours - Pathology and Genetics of Tumours of Haemopoietic and Lymphoid Tissues, 2016.

Minimal residual disease monitoring by flow is offered by LabPlus in Auckland.


Cytogenetic changes in AML leukaemic cells are common and many of these may have therapeutic or prognostic significance. 2017 ELN risk stratification categorise AML into favourable, intermediate and adverse groups based on the presence of cytogenetic and other genetic changes (see table below).

DNA Analysis

DNA analysis is essential for any patient who will receive intensive treatment and will define what DNA change may underlie the cytogenetic abnormalities observed on karyotype. Local assays that are offered include FLT3-ITD and NPM1 as well as a myeloid NGS panel covering many of the most commonly encountered genetic changes.

2017 ELM risk stratification by genetics

Risk Category

Genetically abnormality


t(8;21)(q22;q22.1); RUNX1-RUNX1T1

inv(16)(p13.1q22) or (t(16;16)(p13.1;q22); CBFB-MYH11

Mutated NPM1 without FLT3-ITD or with FLT3-ITDlow = allelic ratio < 0.5

Biallelic mutated CEBPA


Mutated NPM1 and FLT3-ITDhigh = allelic ratio > 0.5

Wild-type NPM1 without FLT3-ITD or with FLT3-ITDlow (without adverse-risk genetic lesions)

t(9;11)(p21.3;q23.3); MLLT3-KMT2A

Cytogenetic abnormalities not classified as favourable or adverse


t(6;9)(p23;q34.1); DEK-NUP214

t(v;11q23.3); KMT2A rearranged

t(9;22)(q34.1;q11.2); BCR-ABL1

inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2); GATA2,MECOM(EVI1)

-5 or del(5q); -7; -17/abn(17p)

Complex karyotype monosomal karyotype

Wild-type NPM1 and FLT3-ITDhigh

Mutated RUNX1

Mutated ASXL1

Mutated TP53

Table sourced from "Acute myeloid leukemia: 2019 update on risk-stratification and management" American Journal of Hematology. 2018;93: 1267-1291 with permission of Wiley and Sons.

The Decision to Treat

About this Canterbury DHB document (4274):

Document Owner:

Blake Hsu (see Who's Who)

Last Reviewed:

April 2021

Next Review:

April 2023


Note: Only the electronic version is controlled. Once printed, this is no longer a controlled document. Disclaimer

Topic Code: 4274