# The molecular landscape of paediatric acute myeloid leukaemia (TARGET)

Source: https://onco.cc/key-papers/paper-bolouri-paediatric-aml-genomics-nat-med-2018/  
OnCo record `paper-bolouri-paediatric-aml-genomics-nat-med-2018` (Key paper). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

Sequencing nearly a thousand childhood acute myeloid leukaemias showed the disease differs sharply from adult disease, with fewer mutations, more structural rearrangements and age-specific drivers, so adult genetic risk groups cannot simply be transferred to children.

## Summary

Comprehensive genomic study by the TARGET initiative of 993 children and young adults with AML, including whole-genome, exome, transcriptome and methylation profiling, identifying age-specific patterns of somatic mutations, structural variants such as KMT2A and NUP98 rearrangements, and novel focal deletions.

## Fields

- Kind: Key paper
- Last checked: 2026-09-17
- Journal: Nature Medicine
- Year: 2018
- DOI: 10.1038/nm.4439
- Authors: Bolouri H, Farrar JE, Triche T, et al.
- Findings: Low mutation burden in childhood AML with structural variants and fusions predominating.; Distinct age-associated mutations, for example NPM1 and DNMT3A being rare in young children.
- What it means: Paediatric AML risk classification and targeted therapy development now rest on this landscape rather than on adult data.
- Caveats: Discovery cohort; clinical translation into risk stratification is ongoing.

## Sources

- Nat Med 2018: https://doi.org/10.1038/nm.4439
- PubMed: https://pubmed.ncbi.nlm.nih.gov/29227476/

## Connected records

- cancers: [Acute myeloid leukaemia in children](https://onco.cc/cancers/aml-paediatric/)
- journals: [Nature Medicine](https://onco.cc/journals/nature-medicine/)

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