Cancer types · Blood cancers
Leukaemia
Leukaemias are cancers of blood-forming cells. They are grouped as acute or chronic and as myeloid or lymphoid: acute myeloid leukaemia (AML), acute lymphoblastic leukaemia (ALL), chronic myeloid leukaemia (CML) and chronic lymphocytic leukaemia (CLL).
Cytogenetic and molecular results are central to classification, risk assessment and monitoring in most leukaemias.
Clinical and molecular questions that often arise
- Which type of leukaemia is it, and how has it been classified?
- What do cytogenetics and molecular results show for risk assessment?
- How is measurable residual disease (MRD) or molecular response being monitored?
- If transplant is considered, are there inherited findings relevant to related donors?
Information that may be part of an individual assessment
- Blood counts and blood film.
- Bone marrow examination with flow cytometry.
- Cytogenetics, FISH and molecular panels.
- MRD or molecular-response monitoring where appropriate.
Which investigations are appropriate is decided by the treating team for each person.
Molecular profiling and biomarker interpretation
Depending on the setting, molecular and biomarker questions in leukaemia may involve:
- AML: FLT3, NPM1, IDH1, IDH2, CEBPA and TP53, with cytogenetic risk groups
- ALL: BCR-ABL1 (Philadelphia chromosome) and other rearrangements
- CML: BCR-ABL1 transcript levels and kinase-domain mutations at resistance
- CLL: TP53 status, del(17p) and IGHV mutation status
Biomarkers, panels and available tests vary by subtype, disease setting, assay and guideline version. A detected alteration is not automatically actionable.
How KPCIRC pathways may apply
POAS
POAS may help interpret a haematology molecular panel, separating established risk-classification findings from variants of uncertain significance, within the agreed haemato-oncology scope.
Molecular Tumour Board
MTB or haemato-oncology discussion may help where results are complex or the disease course changes.
Second opinion and progression review
A second opinion may help clarify classification or treatment intensity. Progression review can organise relapse findings.
Hereditary risk and screening
Germline predisposition to some myeloid cancers (for example DDX41, RUNX1, CEBPA or GATA2) is increasingly recognised and can matter when relatives are considered as stem-cell donors. Genetic counselling helps interpret such findings.
How to access the relevant pathway
Patients and families
- Talk to your treating oncologist about whether an additional review may help.
- Request a consultation and tell us which question you want answered.
- Share records only when asked, through the secure route.
Referring doctors
- Define the clinical question and the pathway: POAS, MTB, second opinion or progression review.
- Start a case enquiry without patient identifiers.
- Scope, fees and timing are confirmed before any review proceeds.
Questions and limitations
Why are so many genetic tests done in leukaemia?
Because classification, risk assessment and monitoring depend on them. Different tests answer different questions.
What is MRD?
Measurable residual disease describes very low levels of leukaemia detected by sensitive tests after treatment; it is interpreted by the treating haematologist.
Does this page apply to my situation?
This page is educational. It explains common questions but cannot account for individual circumstances. Your treating clinician is best placed to interpret your reports and plan your care.
Educational content reviewed against the KPCIRC service scope. It is not a diagnosis, a treatment recommendation or a statement that a specialist or service is available for this cancer type.