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Diagnosis and tests

Diagnosis summary map

Diagnosis brings many tests, terms and results. This topic gathers them on one map: what each part shows and how it affects the treatment plan.

Last updated: ~3 min read
A glowing map on a dark navy table: a path of light linking a feather, a drop, a bone, a DNA helix and a compass.
Figure 1.The whole diagnosis journey on one map.

01Short answer

The summary map of a leukemia diagnosis has five parts. 1) Type: acute or chronic, myeloid or lymphoid (AML, ALL, CML, CLL and others). 2) Subtype: the exact name based on immunophenotype and genetics (for example B-ALL, APL). 3) Genetics and risk group: favourable, intermediate or adverse. 4) Spread: whether, besides blood and marrow, the spinal fluid, spleen, lymph nodes or other organs are involved. 5) The person: age, heart, kidney and liver function, other illnesses. Acute leukemias have no classic “stage”; a risk group is used instead. CLL has Rai and Binet stages. Together, these parts decide the treatment plan, the need for a transplant and how you will be monitored.

02Simple explanation

Type answers “which leukemia?”. It is the biggest division.

Subtype and genetics answer “exactly which one?”. The choice of targeted drugs comes from here.

Risk group helps answer “how intensive should treatment be?”.

The person’s health answers “which treatment can be given safely?”. Two people with the same leukemia may get different plans.

03Scientific explanation

Stage and risk: according to the ACS, AML and ALL are not staged like solid tumours, because the disease is in the blood and marrow throughout the body from the start. Outlook and plan are judged by genetic risk, age, white count and response to treatment. CML is assessed by phase (chronic, accelerated, blast), and CLL by the Rai and Binet systems.

Central nervous system: according to the NHS and ACS, in ALL the spinal fluid is checked (lumbar puncture) because leukemia cells can reach the brain’s linings; this decides whether intrathecal chemotherapy is added.

Fitness: according to the NCI, decisions on intensive chemotherapy and transplant take into account general health, heart function (echocardiogram), kidney and liver results, and infections.

04What happens in the body?

How to read the map

A discharge summary usually lists the diagnosis line (type and subtype), immunophenotype, karyotype/FISH, molecular results and risk group. Ask your doctor to add one sentence beside each: “what does this mean and how does it change the plan?”

An open tabbed medical folder on a desk with a pen and glasses in warm lamp light.
Figure 2.All results in one folder.

A team decision

In many centres the diagnosis and plan are discussed by the hematologist, laboratory doctors, a transplant specialist and others. This makes sure every part of the map is considered.

An empty round table in a calm hospital room, a screen showing abstract blood cells.
Figure 3.The team discusses the diagnosis together.

The map is updated during treatment

The response to treatment (remission, measurable residual disease, MRD) adds new information and may change the plan. So a diagnosis is not a one-off event but a living document.

05Four key points on the map

From symptom to plan.

Signal — A symptom or a test.1SignalA symptom or a test.
Core tests — Blood, bone marrow, flow cytometry.2Core testsBlood, bone marrow, flow cytometry.
Genetics and risk — Subtype and risk group.3Genetics and riskSubtype and risk group.
Plan — Treatment, monitoring, transplant if needed.4PlanTreatment, monitoring, transplant if needed.
TypeWhich leukemia.
RiskFrom genetics.
PathA personal plan.

06Parts of the diagnosis map

PartQuestionWhere does it come from?
TypeWhich leukemia?Blood count, bone marrow, flow cytometry
SubtypeExactly which form?Immunophenotype, genetics
Risk groupHow intensive should treatment be?Karyotype, FISH, molecular tests
SpreadWhere else is it?Lumbar puncture, examination, imaging
General healthWhich treatment is safe?Heart, kidney, liver tests
ResponseDoes the plan need to change?Repeat marrow test, MRD

* Your own map is filled in by your doctor.

07Key terms

Risk group
An estimate of the expected course from genetics and other factors.
Stage
How far the disease has spread; used in CLL and CML.
Lumbar puncture
Taking spinal fluid from the lower back.
MRD
Measurable residual disease.
Fitness
The ability to cope with treatment.

08Key points

  • A diagnosis is a five-part map.
  • Type, subtype, genetics, spread, health.
  • Acute leukemia uses a risk group instead of a stage.
  • The plan rests on every part.
  • The map is updated during treatment.
  • Keep copies of your results.

09Frequently asked questions

What stage is my leukemia?

Acute leukemias have no stages; your doctor will talk about a risk group. CLL and CML have a stage or phase.

Why is my plan different from someone else’s?

Because the parts of the map, such as genetics, age and general health, are different.

Can I get a second opinion?

Yes, it is normal. You will need copies of all results and the slides.

How should I keep the map myself?

In one folder: discharge summaries, test results, genetic results and a short note of your doctor’s explanations.

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 stage is my leukemia?

  2. Why is my plan different from someone else’s?

  3. Can I get a second opinion?

  4. How should I keep the map myself?

My questions

12Sources

  1. American Cancer Society. Tests for Acute Myeloid Leukemia (AML)
  2. American Cancer Society. Tests for Acute Lymphocytic Leukemia (ALL)
  3. National Cancer Institute (NCI). Leukemia—Patient Version
  4. NHS. Acute lymphoblastic leukaemia: Diagnosis
  5. Cancer Research UK. Questions to ask your doctor about leukaemia
  6. Leukemia & Lymphoma Society. Leukemia
  7. National Cancer Institute (NCI). NCI Dictionary of Cancer Terms: blast
  8. Blood, 2018. iwCLL guidelines for diagnosis, indications for treatment, response assessment, and supportive management of CLL
  9. National Cancer Institute. NCI Dictionary of Cancer Terms: absolute neutrophil count
  10. National Cancer Institute (NCI). Hairy Cell Leukemia Treatment (PDQ®) — Patient Version
Medical disclaimerThis information is for educational purposes only and does not replace medical advice.
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