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Diagnosis and tests

Features defined after diagnosis

The word “leukemia” is only the beginning. Once the diagnosis is made, doctors complete it with several features: type, subtype, genetics, risk group, stage or phase, target markers and the person’s overall condition. This topic explains each page of this “diagnosis passport”.

Last updated: ~5 min read
An open, softly glowing passport booklet on a dark navy background; its pages carry small symbols of a cell, a DNA helix, a risk scale and a human silhouette; no readable text.
Figure 1.Concept: the pages of a diagnosis passport.

01Short answer

After a leukemia diagnosis, several features are defined to guide treatment. First, the type and cell lineage: acute or chronic, myeloid or lymphoid (AML, ALL, CML, CLL and others). Second, the subtype under the WHO 2022 or ICC classification, often named after a genetic change. Third, the risk group: in AML, ELN 2022 assigns favourable, intermediate or adverse risk based on genetics; in childhood ALL, age, white cell count, genetics and early response to treatment are considered. Fourth, the stage or phase: acute leukemias have no stages like solid tumours, but CLL has Rai and Binet stages and CML has chronic and blast phases. In addition, central nervous system involvement, markers for targeted drugs (CD20, CD33, CD19, FLT3, IDH1/2, BCR::ABL1 and others), age, physical condition (ECOG), other illnesses and baseline markers for MRD tracking are recorded. Together, all these features shape the treatment plan.

02Simple explanation

A diagnosis is like an address: country (leukemia), city (AML or ALL), street (subtype), house number (genetics).

The risk group shows how intensive treatment needs to be.

Acute leukemias have no stages, because they spread through the blood and bone marrow from the start. Chronic leukemias do have stages or phases.

Some cells carry “flags” (markers) that targeted drugs can recognise.

Doctors look not only at the illness but at the person: age, strength, other conditions.

03Scientific explanation

Type and subtype. The ACS explains that AML and ALL are now classified mainly by genetic changes, and then by how the cells look and by their markers. The WHO 5th edition (2022) and the International Consensus Classification (ICC 2022) share the same principle but differ in some details. So a report may state which classification was used.

Risk group. The ELN 2022 recommendations divide AML by genetics into favourable, intermediate and adverse risk groups. According to the NCI, in childhood B-ALL the risk group depends on age (1 to 10 years is usually more favourable), the starting white cell count, genetics and the MRD result after the first weeks of treatment. In CML, ELN 2020 assesses risk with scores such as Sokal or ELTS.

Stage and phase. The NCI notes that staging describes how far a cancer has spread, but the usual stages are not used for acute leukemias. According to the ACS, in CLL the Rai (0–IV) and Binet (A–C) systems take into account enlarged lymph nodes, liver and spleen, anaemia and low platelets. CML starts in the chronic phase and, without treatment, can progress to blast phase; the ICC keeps an accelerated phase, while WHO 2022 no longer lists it separately.

The person’s condition. The NCI describes performance status as a measure of how well a person can carry out everyday activities. The ECOG scale runs from 0 (fully active) to 4 (completely bed-bound). Together with age and heart, kidney and liver function, it helps choose how intensive treatment should be.

04What happens in the body?

The full name of the diagnosis

For example, “AML with NPM1 mutation” or “BCR::ABL1-positive B-ALL” — both the type and the genetics are included. A report sometimes describes the cell lineage in detail. A written copy of the full name saves time when you speak to any doctor in the future.

What does the risk group change?

The risk group affects how intensive consolidation is, whether a transplant is discussed in first remission and how often you are followed up. Risk can be reassessed during treatment — especially according to the MRD result.

A calm semicircular gauge with three colour zones — green, amber and soft red — on a dark navy background; the needle rests in the middle, with a gentle glow around it; no numbers.
Figure 2.The risk group helps choose treatment intensity.

Target markers

Markers on the cell surface such as CD20, CD19, CD22 and CD33 can be targets for antibodies or CAR-T cells. Genetic markers (BCR::ABL1, FLT3, IDH1/2, PML::RARA) are the basis for targeted tablets or special drugs.

A large translucent leukemia cell on a dark navy background; small glowing flag-like markers sit on its surface, and a Y-shaped antibody approaches one of them.
Figure 3.Markers on the cell surface are targets for drugs.

The central nervous system

In ALL and some other cases, a lumbar puncture is used to look for leukemia cells in the spinal fluid. The result affects the planning of preventive or treatment intrathecal therapy.

Features of the person

Age, physical strength, other illnesses, current medicines, family plans and personal preferences are also part of the plan. Two people with the same diagnosis may receive different treatment — this is not a mistake but an individual approach.

05From diagnosis to plan

Each feature shapes the next decision.

Type and subtype — AML, ALL, CML, CLL and the genetic name.1Type and subtypeAML, ALL, CML, CLL and the genetic name.
Risk or stage — ELN risk, Rai/Binet, CML phase.2Risk or stageELN risk, Rai/Binet, CML phase.
Targets — Surface and genetic markers.3TargetsSurface and genetic markers.
The person — Age, strength, organs, preferences.4The personAge, strength, organs, preferences.
An individual planFitted to the illness and the person.
A targeted choiceDrugs matched to markers.
A clear recordYour diagnosis passport in hand.

06The diagnosis passport: key fields

FeatureExampleWhat it affects
Type and cell lineageAML, B-ALL, T-ALL, CML, CLLThe general direction of treatment
Subtype (WHO/ICC)AML with NPM1 mutation, APL with PML::RARASpecific regimens
Risk groupELN: favourable, intermediate, adverseIntensity, transplant
Stage or phaseCLL: Rai/Binet; CML: chronic or blast phaseTiming and type of treatment
CNS statusCells present or absent in spinal fluidIntrathecal therapy
Target markersCD20, CD33, CD19, FLT3, IDH1/2, BCR::ABL1Targeted drugs, immunotherapy
Overall conditionECOG 0–4, other illnessesTreatment intensity

* Not every diagnosis has every field. Fill in your own passport together with your doctor.

07Key terms

Cell lineage
Whether the leukemia is myeloid or lymphoid in origin.
Subtype
A precise group within a type, based on genetics or other features.
Risk group
A statistical group based on expected response to treatment.
Rai and Binet
Staging systems for CLL.
Blast phase
A stage of CML that resembles acute leukemia.
CNS status
Whether leukemia involves the central nervous system.
ECOG
A scale of everyday activity from 0 to 4.
Target marker
A molecule that a drug recognises and acts on.

08Key points

  • A diagnosis is completed with type, subtype and genetics.
  • The risk group affects treatment intensity.
  • Acute leukemias have no classic stages.
  • CLL uses Rai/Binet; CML uses phases.
  • Markers guide the choice of targeted drugs.
  • The person’s condition is part of the plan too.
  • Keep your diagnosis passport in writing.

09Frequently asked questions

What does “high risk” mean for me?

Statistically, it means the illness responds less readily to standard treatment, and it usually means a more intensive plan or a discussion about a transplant. It is not a verdict on your personal future.

What stage is my leukemia?

Acute leukemias do not have stages like solid tumours. Subtype and risk group are used instead. In CLL you can ask about the Rai or Binet stage, and in CML about the phase.

Can my risk group change?

Yes. The response to treatment, especially the MRD result, and genetic results that arrive later can change the risk group.

Why is my treatment different from a friend’s with the same diagnosis?

The subtype, genetics, risk, age and other illnesses may differ. Even when the diagnosis has the same name, treatment is chosen individually.

Where can I find these features?

In the bone marrow report, the genetic results and the discharge summary. You can ask your doctor to write them as a short list.

10Questions for your doctor

Take these questions to your appointment. The ones you save are collected on the “My questions” page and stay on this device only.

  1. What does “high risk” mean for me?

  2. What stage is my leukemia?

  3. Can my risk group change?

  4. Why is my treatment different from a friend’s with the same diagnosis?

  5. Where can I find these features?

My questions

12Sources

  1. American Cancer Society. How Is Acute Myeloid Leukemia Classified?
  2. American Cancer Society. Typing of Acute Lymphocytic Leukemia (ALL)
  3. American Cancer Society. How Is Childhood Leukemia Classified?
  4. American Cancer Society. Chronic Lymphocytic Leukemia Stages
  5. American Cancer Society. Phases of Chronic Myeloid Leukemia
  6. National Cancer Institute (NCI). Cancer Staging
  7. National Cancer Institute (NCI). Understanding Cancer Prognosis
  8. National Cancer Institute (NCI). Childhood Acute Lymphoblastic Leukemia Treatment (PDQ®) — Patient Version
  9. National Cancer Institute (NCI). Performance status — NCI Dictionary of Cancer Terms
  10. ECOG-ACRIN Cancer Research Group. ECOG Performance Status Scale
  11. Blood (American Society of Hematology), 2022. Dohner H, et al. Diagnosis and management of AML in adults: 2022 recommendations from an international expert panel on behalf of the ELN
  12. Blood, 2018. iwCLL guidelines for diagnosis, indications for treatment, response assessment, and supportive management of CLL
  13. Leukemia, 2020. European LeukemiaNet 2020 recommendations for treating chronic myeloid leukemia
Medical disclaimerThis information is for educational purposes only and does not replace medical advice.
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