Cancer Dictionary · Blood and lymphatic

Acute Myeloid Leukaemia

Acute myeloid leukaemia is classified and risk-stratified by cytogenetics and molecular genetics. Several alterations are directly targetable, and others determine whether transplantation is pursued. The distinctive feature of this disease is urgency: results are needed within days, not weeks, and the testing pathway is built around that.

Also called AML, Acute myeloid leukemia.

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The governing idea

AML is the disease where molecular results are needed fastest, because genetic risk classification determines the treatment strategy from the first cycle and cannot usefully be applied retrospectively.

01Before any molecular question

How it usually presents

Usually established first: blast percentage, morphology, immunophenotype by flow cytometry, and cytogenetics. Acute promyelocytic leukaemia must be identified immediately, because it is a distinct emergency with a specific treatment, and this is the single most time-critical distinction in the disease.

Usually already established

Blast percentage and morphology
Immunophenotype by flow cytometry
Cytogenetics
Whether there is a preceding haematological disorder or prior chemotherapy

Major disease categories

The divisions below are not labels. Each one changes what the treatment discussion is actually about.

Acute promyelocytic leukaemia

Defined by PML::RARA. A medical emergency with a specific treatment, and an excellent outlook once recognised. Identifying it fast is the priority.

AML with defining genetic abnormalities

Including core binding factor leukaemias, NPM1-mutated AML and KMT2A-rearranged disease. The genetics define the entity.

AML with myelodysplasia-related changes

Often arising from a preceding disorder, with a characteristic mutational pattern and a different treatment discussion.

Therapy-related AML

Arising after previous chemotherapy or radiation. Generally carries a less favourable outlook.

AML in older or less fit patients

Where treatment intensity is the central question, and where targetable alterations can widen what is feasible.

03What is discussed

Molecular considerations

FLT3 internal tandem duplication and tyrosine kinase domain mutations are directly targetable and are needed urgently. NPM1 mutation defines a favourable-risk entity in the right context and is also the most useful measurable residual disease marker. IDH1 and IDH2 mutations are targetable. CEBPA, TP53, ASXL1 and RUNX1 carry risk implications. KIT matters in core binding factor leukaemia. KMT2A rearrangements and NUP98 fusions define specific entities. Risk classification uses cytogenetics and molecular findings together, and it determines whether transplantation in first remission is pursued.

Biomarkers commonly discussed

FLT3-ITD and FLT3-TKD

Directly targetable, and needed within days rather than weeks.

NPM1

Defines a favourable entity in the right context, and is the best residual disease marker in this disease.

IDH1 and IDH2

Targetable.

TP53

Carries substantial risk implications and shapes the transplantation discussion.

PML::RARA

Defines acute promyelocytic leukaemia. Must be identified immediately.

CEBPA, ASXL1, RUNX1

Risk-classifying alterations.

KIT

Relevant in core binding factor leukaemia.

This is not an exhaustive list, and which markers are relevant depends on the individual case. Not every marker listed is assessed in every patient.

04What is tested, and from what

Testing, inherited risk and blood-based monitoring

Genomic testing considerations

The testing pathway in AML is built around speed. Rapid testing for PML::RARA, FLT3 and NPM1 is prioritised because it changes the first treatment given. Broader panels and cytogenetics follow and inform risk classification and transplantation decisions. Measurable residual disease assessment after treatment uses either flow cytometry or molecular markers, and is now central to how response is judged. Sample material is bone marrow or peripheral blood, and the diagnostic sample should be stored, because it is the reference point for all later residual disease testing.

Germline considerations

Inherited predisposition to myeloid malignancy is recognised more often now than it once was. Germline RUNX1, CEBPA, DDX41, GATA2, ANKRD26 and ETV6 alterations are described, and telomere biology disorders and Fanconi anaemia are also relevant. Prompts include young age, a family history of haematological malignancy or cytopenias, and certain variants found on the diagnostic panel. This matters urgently when a sibling is being considered as a stem cell donor, because an affected donor would be the wrong choice, and testing needs to happen before transplantation rather than after.

Cancer genetics and hereditary risk

ctDNA and liquid biopsy considerations

Peripheral blood and bone marrow are used directly for molecular monitoring in leukaemia, so the concept of a liquid biopsy works differently here. Measurable residual disease monitoring using NPM1 or other markers is well established, and it is the equivalent question: how much disease remains below the level anything else can see.

When molecular information matters

Testing that arrives after the decision it was meant to inform has already been made is a common and avoidable problem. This is the sequence in which molecular information tends to become relevant.

At presentation, within hoursRuling acute promyelocytic leukaemia in or out is the immediate priority, because it is a treatable emergency.
Within daysFLT3 and NPM1 status inform the first treatment. This is genuinely time-critical.
Within one to two weeksFull cytogenetic and molecular risk classification informs the transplantation discussion.
Before considering a sibling donorGermline predisposition must be excluded, because an affected sibling would be an unsuitable donor.
After induction and through treatmentMeasurable residual disease monitoring guides subsequent decisions.
At relapseRepeat profiling is essential, because the molecular picture commonly changes and previously absent targets can appear.

06Take these to your team

Questions worth raising

When a decision is being made

Questions worth raising with a treating team.

Has acute promyelocytic leukaemia been ruled out as an immediate priority?
Are FLT3 and NPM1 results available within days, since they change the first treatment given?
Has full risk classification been completed using cytogenetics and molecular findings together?
If a sibling donor is being considered, has germline predisposition been excluded first?
Has a diagnostic sample been stored as a reference point for later residual disease monitoring?

At progression, recurrence or resistance

The molecular picture at diagnosis is not always the molecular picture later.

Has the disease been re-profiled at relapse, since the molecular picture commonly changes and new targets can appear?
Has FLT3 been retested at relapse, since it can be gained or lost between presentation and relapse?
Has measurable residual disease been used to detect relapse earlier than morphology would?

07What shapes eligibility

Clinical trial considerations

Eligibility is written in precise molecular terms, and frequently by treatment line and fitness. Because AML moves quickly, trial evaluation needs to happen alongside initial treatment planning rather than after it.

Ask about trial matching

Plain-language glossary for this entry (5 terms)

Term	What it means
Blast	An immature blood cell. The proportion of blasts is central to diagnosing acute leukaemia.
Cytogenetics	Examining chromosomes for large-scale changes. Still central in leukaemia alongside gene sequencing.
Measurable residual disease	Disease remaining after treatment at a level below what a microscope can see.
Induction	The first phase of intensive treatment, aimed at achieving remission.
Core binding factor leukaemia	A group defined by specific chromosomal rearrangements, generally with a more favourable outlook.

Where OnKommon fits

These are the services most often relevant to this cancer. Which of them applies is a clinical question, not an automatic one.

Signature B AMLProfiling for myeloid leukaemia.See how it works HeritageInherited-risk testing, and a tested pathway for relatives.See how it works Blueprint CareThe decision report that reads the profile and ranks the options.See how it works SentinelSerial monitoring during active treatment.See how it works

This entry is educational. It describes what is commonly discussed in this cancer, not what should happen for any individual. Which of it applies depends on the specific diagnosis, stage, prior treatment and the person themselves. Nothing here is a recommendation, and no list of biomarkers here is exhaustive. Decisions belong with a treating team who know the whole case.

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