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Research and new methods

Mutations: a change in the cell's instructions

A mutation is a change in DNA, the cell's instruction manual. In leukaemia, mutations in a blood-forming cell make it divide without control and stop maturing.

Last updated: ~1 min read
Space-filling model of a DNA double helix, with atoms shown as coloured spheres
Figure 1.A model of the DNA double helix

01Short answer

Most leukaemia mutations are not inherited; they are acquired during life in a single cell (somatic). That is why the disease is usually not passed on to children. Some mutations speed up growth (for example FLT3), others block maturation, and others arise when chromosomes swap pieces (for example BCR::ABL1). Knowing the mutations sharpens the diagnosis, helps estimate risk and guides the choice of targeted medicine. Rarely there is an inherited tendency; your team will offer genetic counselling if needed.

02Simple explanation

A change in DNA.

Usually acquired.

Diagnosis and risk.

Targeted treatment.

03Scientific explanation

NCI: cancer is a disease caused by genetic changes; most are acquired during life and some are inherited.

NCI: new treatments are tested step by step, from the laboratory to clinical trials; only those proven safe and beneficial become standard care.

04What happens in the body?

Somatic mutation

A change found only in the diseased cells.

A stuck switch
Figure 2.A stuck switch — Mutations: a change in the cell's instructions

Germline mutation

An inherited change present in all cells from birth.

Acquired
Figure 3.Acquired — Mutations: a change in the cell's instructions

How to read the news

Research news brings hope, but not every advance suits everyone. Look at who it was tested in, at what phase and in how many people.

Talk to your doctor

Show your doctor what you have read; they will explain how it relates to your diagnosis and treatment. Do not change your treatment on your own.

05From research news to a conversation: four steps

Read, check, ask, decide together.

Read — From a trusted source.1ReadFrom a trusted source.
Check — Phase, participants, result.2CheckPhase, participants, result.
Ask — Show your doctor.3AskShow your doctor.
Decide — Together, without rushing.4DecideTogether, without rushing.
SourceA trusted site.
DoctorA personal explanation.
SafetyNot changing treatment yourself.

06Key points at a glance

TopicIn brief
Somatic mutationA change found only in the diseased cells.
Germline mutationAn inherited change present in all cells from birth.
How to read the newsResearch news brings hope, but not every advance suits everyone. Look at who it was tested in, at what phase and in how many people.
Talk to your doctorShow your doctor what you have read; they will explain how it relates to your diagnosis and treatment. Do not change your treatment on your own.

07Key terms

Mutation
A change in DNA.
Translocation
Pieces of chromosomes swapping places.
Clinical trial
Testing a new treatment with volunteers.
Evidence
A result confirmed by reliable research.

08Key points

  • Test.
  • Understand.
  • Target.
  • Check the source.
  • Talk to your doctor.

09Frequently asked questions

Will my children inherit it?

Most leukaemia mutations are not inherited; if in doubt, ask about genetic counselling.

Is a mutation bad news?

Some are linked to a good outlook, others to specific treatment.

Is this advance right for me?

Only your treating doctor can say, based on your diagnosis, stage and condition.

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. Will my children inherit it?

  2. Is a mutation bad news?

  3. Is this advance right for me?

My questions

12Sources

  1. National Cancer Institute. Cancer Genetics
  2. National Cancer Institute. NCI Dictionary of Cancer Terms: mutation
  3. National Cancer Institute. NCI Dictionary of Cancer Terms: somatic mutation
  4. National Cancer Institute. What Are Clinical Trials?
  5. National Cancer Institute. Phases of Clinical Trials
  6. National Cancer Institute. Using Trusted Resources
  7. MedlinePlus (U.S. National Library of Medicine). Evaluating Health Information
  8. U.S. Food and Drug Administration. The Drug Development Process
  9. National Cancer Institute. NCI Dictionary of Cancer Terms: preclinical study
  10. U.S. Food and Drug Administration. FDA Drug Review Process (continued)
Medical disclaimerThis information is for educational purposes only and does not replace medical advice.
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