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After treatment and remission

My genetic results

Genetic changes in leukaemia cells determine the risk group, treatment and follow-up tests. Keeping them accurately is very important.

Last updated: ~1 min read
Pairs of chromosomes.
Figure 1.Karyotype — My genetic results

01Short answer

The main tests are karyotype (chromosomes), FISH (looking for specific changes), PCR and NGS panels (gene mutations). Examples include BCR-ABL1 (the Philadelphia chromosome), NPM1, FLT3, IDH1/2 and TP53. Record the date and type of every test. Most changes are only in the leukaemia cells (somatic) and are not inherited; rarely, an inherited predisposition is found, and this is discussed with a genetic counsellor.

02Simple explanation

Karyotype, FISH, NGS are different tests.

The date of each result matters.

Most changes are not inherited.

Relapse can bring new results.

Keep a copy of the report.

03Scientific explanation

Somatic and germline: somatic mutations are only in leukaemia cells; germline changes are in all cells and can concern the family.

Clonal evolution: over time, leukaemia cells can gain new mutations.

Targets: changes such as FLT3, IDH and BCR-ABL1 are the basis for targeted medicines.

04What happens in the body?

Chromosomes

A karyotype shows the number and structure of chromosomes.

Mutations

An NGS panel checks many genes at once.

DNA with one glowing rung.
Figure 2.Mutation — My genetic results

Diagnosis and relapse

Keep results separately by date; they can differ.

Two envelopes — My genetic results
Figure 3.Then and now — My genetic results

For the family

If an inherited change is suspected, genetic counselling may be offered; this also matters for donor choice.

05Your genetic record

Four steps.

Reports — Get every report.1ReportsGet every report.
Test type — Karyotype, FISH, NGS.2Test typeKaryotype, FISH, NGS.
Date — Date each result.3DateDate each result.
Inherited? — Ask whether anything is inherited.4Inherited?Ask whether anything is inherited.
AccuracyEvery result is dated.
UnderstandingTargets are known.
FamilyInheritance questions are clarified.

06Key points at a glance

TopicIn brief
ChromosomesA karyotype shows the number and structure of chromosomes.
MutationsAn NGS panel checks many genes at once.
Diagnosis and relapseKeep results separately by date; they can differ.
For the familyIf an inherited change is suspected, genetic counselling may be offered; this also matters for donor choice.

07Key terms

Karyotype
A chromosome analysis.
FISH
A search for a specific change using a fluorescent probe.
NGS
Next-generation sequencing.
Somatic
Present only in tumour cells.
Germline
Inherited, present in all cells.

08Key points

  • Get every genetic report.
  • Record the test type and date.
  • Keep diagnosis and relapse results apart.
  • Ask about inheritance.
  • Show them to every new doctor.

09Frequently asked questions

Are my children at risk?

In most cases the changes are not inherited; if there is doubt, a genetic counsellor will explain.

The report is technical; what can I do?

Ask your doctor to write the key result in plain language.

Are tests repeated?

Yes, at relapse and at some follow-up points.

Does this information replace medical advice?

No. This is general education; only your treating doctor can assess your situation.

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. Are my children at risk?

  2. The report is technical; what can I do?

  3. Are tests repeated?

  4. Does this information replace medical advice?

My questions

12Sources

  1. MedlinePlus (U.S. National Library of Medicine). Genetic Testing
  2. National Cancer Institute (NCI). Adult Acute Myeloid Leukemia Treatment (PDQ®)–Patient Version
  3. National Cancer Institute (NCI). Adult Acute Lymphoblastic Leukemia Treatment (PDQ®)–Patient Version
  4. National Cancer Institute (NCI). Follow-Up Medical Care
  5. Cancer.Net (ASCO). Follow-Up Care After Cancer Treatment
  6. National Cancer Institute (NCI). Cancer Survivorship
  7. MedlinePlus (U.S. National Library of Medicine). Exercise and Physical Fitness
  8. MedlinePlus (U.S. National Library of Medicine). Weight Control
  9. American Cancer Society. Sleep Problems
  10. NHS. Insomnia
Medical disclaimerThis information is for educational purposes only and does not replace medical advice.
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