# Myeloid leukaemia of Down syndrome

Source: https://onco.cc/cancers/myeloid-leukaemia-of-down-syndrome/  
OnCo record `myeloid-leukaemia-of-down-syndrome` (Cancer). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

Myeloid leukaemia of Down syndrome is a form of acute myeloid leukaemia in young children with Down syndrome, driven by a GATA1 mutation on top of the extra chromosome 21 and often preceded by a transient leukaemia-like illness in the newborn. Its cells are unusually sensitive to chemotherapy, so children are cured about nine times in ten with gentler treatment than other childhood leukaemia.

## Summary

WHO-HAEM5 keeps myeloid leukaemia associated with Down syndrome as a distinct entity, defined by trisomy 21, a GATA1 mutation and onset usually before age five, often after transient abnormal myelopoiesis in the newborn (Khoury 2022). Nearly half of the leukaemias of children with Down syndrome are acute megakaryoblastic, a rare subtype in other children; GATA1 mutations and trisomy 21 cooperate in leukaemogenesis (Critical Reviews in Oncogenesis 2011). The blasts are unusually sensitive to cytarabine and daunorubicin, so the Children's Oncology Group trial AAML0431 reduced anthracycline exposure and moved high-dose cytarabine into induction: for 204 eligible patients five-year event-free survival was 89.9 percent and overall survival 93.0 percent, while the 17 with refractory or relapsed disease had 34.3 percent overall survival; measurable residual disease by flow cytometry after the first induction cycle was highly predictive of outcome (Taub 2017).

How it differs from its parent: it is the paediatric acute myeloid leukaemia with the best outlook and the least treatment, because of drug sensitivity, but with heavy treatment-related toxicity in children with Down syndrome, so dose reduction rather than intensification is the direction; relapse, though rare, is hard to salvage.

How common: no population figure in the sources read; it accounts for a large share of leukaemia in children with Down syndrome.

Treatment: reduced-intensity chemotherapy on the AAML0431 model (cytarabine and daunorubicin-based induction with high-dose cytarabine, fewer anthracycline courses, no transplant in first remission), with measurable residual disease guiding further reduction in current trials such as the response-based trial linked here; relapsed disease has no standard (Taub 2017).

## Fields

- Kind: Cancer
- Last checked: 2026-09-24
- Also known as: ML-DS; Myeloid leukemia of Down syndrome; Myeloid leukaemia associated with Down syndrome; Down syndrome acute megakaryoblastic leukaemia; DS-AMKL; Myeloid leukaemia of Down syndrome (GATA1-mutated; reduced-intensity chemotherapy)
- Tags: subtype-page; wave4; haematologic; rare
- Group: haematologic
- Burden: Children with Down syndrome have a much higher risk of leukaemia than other children, and nearly half of their leukaemias are acute megakaryoblastic (Critical Reviews in Oncogenesis 2011); the COG AAML0431 trial enrolled 204 eligible patients (Taub 2017). No population figure is in the sources read.
- Subtypes: Myeloid leukaemia of Down syndrome, megakaryoblastic (the usual form); Myeloid leukaemia of Down syndrome with prior transient abnormal myelopoiesis; Myelodysplasia-related presentation of myeloid leukaemia of Down syndrome; Refractory or relapsed myeloid leukaemia of Down syndrome (poor outlook)
- Biomarkers: Trisomy 21 with somatic GATA1 mutation; Megakaryoblastic morphology and markers (CD41, CD61); Measurable residual disease by flow cytometry on day 28 of induction; History of transient abnormal myelopoiesis

## Sections of this record

The page is a hub with ten sections in reading order; large sections have their own page. The same plan as JSON: https://onco.cc/api/v1/cancers/myeloid-leukaemia-of-down-syndrome/sections.json

- Overview (on the hub): The TL;DR, the family this cancer belongs to, the organ, who gets it and what the state of the art is. https://onco.cc/cancers/myeloid-leukaemia-of-down-syndrome/#overview
- What it is (on the hub): Anatomy, the subtypes and how they differ, how it is staged, and where advanced disease spreads. https://onco.cc/cancers/myeloid-leukaemia-of-down-syndrome/#what-it-is [4 subtypes]
- Finding it (on the hub): How it shows itself, how it is confirmed, what screening exists, and the biomarkers clinicians test for. https://onco.cc/cancers/myeloid-leukaemia-of-down-syndrome/#finding-it [4 biomarkers]
- Treating it (on the hub): The standard of care by setting, the medicines, surgery and radiotherapy named in it, and the regimens behind them. https://onco.cc/cancers/myeloid-leukaemia-of-down-syndrome/#treating-it [1 setting, 1 decision with options]
- Evidence (on the hub): Trials recruiting now, the landmark trials, the key papers and what they mean, the latest literature, and the milestones year by year. https://onco.cc/cancers/myeloid-leukaemia-of-down-syndrome/#evidence [1 trial]
- The science (on the hub): The molecular landscape: the targets and how often each appears, the pathways, the mechanics stages and the preclinical models. https://onco.cc/cancers/myeloid-leukaemia-of-down-syndrome/#science [1 target]
- Where you are (own page): Cases by country, the UK and NHS pathway and other country lenses, and the expert centres with trials on record. https://onco.cc/cancers/myeloid-leukaemia-of-down-syndrome/where-you-are/
- Living with it (on the hub): The decisions you may face, the aids that walk through them, the warnings on record, the first sixty days and the questions to ask. https://onco.cc/cancers/myeloid-leukaemia-of-down-syndrome/#living-with-it [9 questions, 2 red cards]
- What is coming (own page): Everything in development, the open problems and what is being done about them, the roadmaps, and what changed on this record. https://onco.cc/cancers/myeloid-leukaemia-of-down-syndrome/coming/ [2 medicines]
- Data (own page): Every connected record, the notes, the JSON, Markdown and RDF twins, and where the record came from and when it was checked. https://onco.cc/cancers/myeloid-leukaemia-of-down-syndrome/data/ [7 connected records]

## Standard of care

- Newly diagnosed: Reduced-intensity cytarabine and daunorubicin-based chemotherapy on the AAML0431 model, with measurable residual disease guiding further reduction; no transplant in first remission. ([Cytarabine](https://onco.cc/drugs/cytarabine/), [Daunorubicin](https://onco.cc/drugs/daunorubicin/), [MRD / molecular residual disease testing](https://onco.cc/technologies/mrd-testing/), [Acute myeloid leukaemia in children](https://onco.cc/cancers/aml-paediatric/), [Response-Based Chemotherapy in Treating Newly Diagnosed Acute Myeloid Leukemia or Myelodysplastic Syndrome in Younger Patients With Down Syndrome](https://onco.cc/trials/nct02521493/))

## Sources

- Wikipedia: https://en.wikipedia.org/wiki/Transient_myeloproliferative_disease
- NCI PDQ: childhood acute myeloid leukaemia treatment: https://www.cancer.gov/types/leukemia/patient/child-aml-treatment-pdq
- Khoury 2022, Leukemia: the 5th edition WHO classification of haematolymphoid tumours, myeloid and histiocytic neoplasms: https://doi.org/10.1038/s41375-022-01613-1
- Taub 2017, Blood: improved outcomes for myeloid leukaemia of Down syndrome, COG AAML0431: https://doi.org/10.1182/blood-2017-01-764324
- Critical Reviews in Oncogenesis 2011: myeloid leukaemia in Down syndrome: https://doi.org/10.1615/critrevoncog.v16.i1-2.40

## Connected records

- cancers: [Acute myeloid leukaemia](https://onco.cc/cancers/aml/), [Acute myeloid leukaemia in children](https://onco.cc/cancers/aml-paediatric/), [Childhood cancers (all types)](https://onco.cc/cancers/childhood-cancers/), [Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma)](https://onco.cc/cancers/malt-lymphoma/), [Mixed-phenotype acute leukaemia](https://onco.cc/cancers/mixed-phenotype-acute-leukaemia/)
- technologies: [MRD / molecular residual disease testing](https://onco.cc/technologies/mrd-testing/)
- targets: [GATA1](https://onco.cc/targets/gata1/)
- drugs: [Cytarabine](https://onco.cc/drugs/cytarabine/), [Daunorubicin](https://onco.cc/drugs/daunorubicin/)
- trials: [Response-Based Chemotherapy in Treating Newly Diagnosed Acute Myeloid Leukemia or Myelodysplastic Syndrome in Younger Patients With Down Syndrome](https://onco.cc/trials/nct02521493/)

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JSON: https://onco.cc/api/v1/entities/myeloid-leukaemia-of-down-syndrome.json