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Diagnosis and tests

How results are read together

The related article (“Biomarkers: CD markers, genetic markers and MRD”) explains how types of leukaemia are classified. This topic shows how the results of different tests are combined into one diagnosis.

Last updated: ~1 min read
Five puzzle pieces joining.
Figure 1.The diagnosis puzzle.

01Short answer

A leukaemia diagnosis comes not from one test but from several, like a puzzle. A blood count raises suspicion; microscopy shows the percentage and appearance of blasts; flow cytometry identifies the lineage (myeloid, B or T); cytogenetics and FISH find chromosome changes; and molecular tests find gene mutations. Modern classifications (the WHO and the international consensus) combine all of this, for example “AML with NPM1 mutation” or “B-ALL with BCR::ABL1”. Results arrive at different times, so an early diagnosis may be refined later. Often a haematologist, pathologist and geneticist discuss everything together and produce an “integrated report”.

02Simple explanation

A puzzle of several tests.

Each test answers its own question.

The result: an integrated diagnosis.

03Scientific explanation

Genetics first: in modern classifications, some genetic changes (such as t(15;17) or NPM1) can define the diagnosis regardless of the blast percentage.

Disagreement: if tests seem to contradict each other, a repeat sample or an extra test may be requested.

04What happens in the body?

Puzzle pieces

Each test is a piece; together they make the whole picture.

Team discussion

Specialists discuss the results together.

A round table with empty chairs.
Figure 2.The team discusses the results.

One report

All the layers merge into one clear final report.

Layers merging into one sheet.
Figure 3.One integrated report.

05How a diagnosis is built

Four steps.

Blood — Suspicion arises.1BloodSuspicion arises.
Cells — Microscope and flow.2CellsMicroscope and flow.
Genes — Cytogenetics, molecular.3GenesCytogenetics, molecular.
Whole — The final diagnosis.4WholeThe final diagnosis.

06Which question each test answers

TestQuestion
Blood countIs something abnormal?
MicroscopyAre there blasts, and what percentage?
Flow cytometryWhich lineage?
Cytogenetics/FISHWhich chromosome change?
MolecularWhich gene mutation?

07Key terms

Integrated report
A final summary combining all results.
Classification
Dividing diseases into types.
Subtype
A more precise type.
Risk group
A group based on outlook.
Multidisciplinary
Several specialties working together.

08Key points

  • A diagnosis is built from several tests.
  • Each test answers its own question.
  • Genetics refines the type.
  • Results arrive at different times.
  • An early diagnosis may be refined.
  • Discuss the final report with your doctor.

09Frequently asked questions

Why did my diagnosis change?

Genetic results that arrive later can refine the type; this is normal.

Does treatment wait for every result?

Sometimes it starts urgently and is adjusted as results come in.

Can I have a copy of the report?

Usually yes; read it together with your doctor (“Reading your results with your doctor”).

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. Why did my diagnosis change?

  2. Does treatment wait for every result?

  3. Can I have a copy of the report?

My questions

12Sources

  1. National Cancer Institute (NCI). Adult AML treatment (PDQ), patient version
  2. National Cancer Institute (NCI). Adult ALL treatment (PDQ), patient version
  3. MedlinePlus. Bone marrow tests
  4. National Comprehensive Cancer Network (NCCN). NCCN Guidelines for Patients: Chronic Myeloid Leukemia
  5. Blood (American Society of Hematology), 2017. Consensus guidelines for the diagnosis and management of patients with classic hairy cell leukemia
  6. MedlinePlus (U.S. National Library of Medicine). Uric Acid Test
  7. NHS. Blood tests
  8. American Cancer Society. Seeking a Second Opinion
  9. National Cancer Institute (NCI). Finding Cancer Care
  10. Agency for Healthcare Research and Quality (AHRQ). Questions Are the Answer
Medical disclaimerThis information is for educational purposes only and does not replace medical advice.
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