Acute megakaryoblastic leukaemia (AMKL)

Acute megakaryoblastic leukaemia (AMKL) is a rare, fast-growing blood cancer. Find out what it is, who might get it and the signs and symptoms. We also provide information on how it is diagnosed and treated.

Summary

  • Acute megakaryoblastic leukaemia (AMKL) is a rare, fast-growing blood cancer.
  • We do not know the exact cause of AMKL, but it is not because of anything you have or have not done.
  • AMKL is usually diagnosed from blood tests and bone marrow tests.
  • Treatment for AMKL varies from person to person. It usually involves chemotherapy, sometimes followed by a stem cell transplant.
  • It can be hard dealing with side effects and treatment. Ask your friends, family, medical team or Leukaemia Care if you need support.

About AMKL

Acute megakaryoblastic leukaemia (AMKL) is a fast-growing blood cancer. It is a rare type of acute myeloid leukaemia (AML). AMKL develops when blood-forming cells called megakaryocytes divide and mature uncontrollably. They build up in your bone marrow and stop it making enough healthy blood cells.

AMKL is very rare. It can affect people of any age.

  • Children with Down’s syndrome have a higher chance of getting AMKL than other people. But it is still very rare.
  • AMKL can also affect children without Down’s syndrome, but this is less likely.
  • AMKL is even rarer in adults.

People with AMKL have genetic changes in their blood-forming cells. These make the cells grow out of control. The genetic changes usually happen by chance. They cannot usually be passed on to other people in your family.

We do not know the exact cause of AMKL. But it is not because of anything you have or have not done.

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Signs and symptoms of AMKL

The signs and symptoms of AMKL might include:

  • Infections
  • Low red blood cell count (anaemia)
  • Bruising or bleeding
  • A swollen spleen or liver
  • Swollen lymph nodes
  • Extreme tiredness
  • Night sweats
  • Pale skin (this may look different on black or brown skin)

AMKL is usually diagnosed from blood tests and bone marrow tests.

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Treating AMKL

Treatment for AMKL varies from person to person. There is no standard approach and different doctors might use different options. Your haematology team will suggest the most suitable treatment option for you. They should explain what it is, how you have it and what you can expect from it.

  • Children with Down’s syndrome are likely to have a combination of chemotherapy medicines. They often respond well to chemotherapy and may not need further treatment.
  • Adults and children without Down’s syndrome are also likely to have chemotherapy as their first treatment. After chemotherapy they may also need a stem cell transplant.
  • Your team might suggest treatment as part of a clinical trial, if there is one suitable for you. This could let you access treatments that would not otherwise be available. It is your choice whether or not to take part.

The outcome of AMKL varies from person to person. Your medical team are best placed to discuss what they expect for you.

It can be hard dealing with treatment and its side effects. Don’t be afraid to ask for help from family, friends, your medical team or Leukaemia Care.

Chemotherapy for AMKL

  • Chemotherapy for AMKL happens in cycles or phases.
  • You usually have a combination of different chemotherapy medicines. This varies from person to person. Your team will tell you what medicines they recommend for you.
  • You have different medicines on different days, with some rest days between treatment. Your team can tell you what you’ll have on each day.
  • You usually stay in hospital to have treatment. Your team can give you an idea of how long you might need to stay in.

Stem cell transplant

  • A stem cell transplant replaces damaged or abnormal blood-forming cells in your bone marrow with healthy ones. These usually come from a donor. Sometimes this is a family member.
  • If you need a stem cell transplant, your team will explain what it involves. It is an intensive form of treatment and it is not suitable for everyone.
  • You usually need to stay in hospital for several weeks to have it.

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Sources we used to develop this information

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Garnett C, Cruz Hernandez D, Vyas P. GATA1 and cooperating mutations in myeloid leukaemia of Down syndrome. IUBMB Life. 2020 Jan;72(1):119-30.

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Olatunji PO. A case of acute megakaryoblastic leukaemia (FAB M7), a rare type of acute myeloid leukemia (AML), in a teenager. Malawi Medical Journal. 2018 Dec 31;30(4):298-301.

Tanaka T, Kudo K, Kanezaki R, Yuzawa K, Toki T, Okuse R, Kobayashi A, Sato T, Kamio T, Terui K, Ito E. Antileukemic effect of azacitidine, a DNA methyltransferase inhibitor, on cell lines of myeloid leukemia associated with Down syndrome. Experimental Hematology. 2024 Apr 1;132:104179.

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This information is aimed at people in the UK. We do our best to make sure it is accurate and up to date but it should not replace advice from your health professional. Find out more about our information.

Page last reviewed: 31 March 2025

Updated January 2026

Next review due: 31 March 2028

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