Paediatric Cancers
Paediatric cancers differ from adult cancers biologically, not merely in the age of the patient. They generally carry fewer mutations, are more often driven by fusions and developmental pathway alterations, and are managed within dedicated paediatric oncology services.
Disease categories
Major disease categories
- Leukaemias of childhood
- Neuroblastoma
- Wilms tumour
- Paediatric brain tumours
- Rhabdomyosarcoma
- Ewing sarcoma
- Retinoblastoma
- Hepatoblastoma
Molecular
Molecular considerations
MYCN amplification and ALK alterations are central in neuroblastoma. Fusions define several paediatric sarcomas. Medulloblastoma is divided into molecular subgroups. Retinoblastoma is defined by RB1 alteration.
Markers commonly discussed in paediatric cancers
- MYCN amplification
- ALK
- PAX3/7-FOXO1
- EWSR1 fusions
- RB1
- Methylation class
Not exhaustive, and not every marker is assessed in every patient. Which of these is relevant depends on the individual case and should be discussed with the treating team.
Testing
Genomic testing considerations
Fusion-capable comprehensive profiling is frequently discussed, given how often paediatric tumours are fusion-driven.
Germline
Germline considerations
Germline predisposition is proportionally more common in paediatric cancer, and germline assessment is a standard part of the discussion — with implications for the child, for siblings and for surveillance.
Molecular monitoring
ctDNA and liquid biopsy considerations
An area of active research in paediatric oncology.
Single-cell & computation
Single-cell and algorithmic approaches
Paediatric tumours are frequently driven by a single fusion or copy-number event on a quiet mutational background, which makes single-cell analysis unusually informative about developmental state rather than mutational burden. Single-cell RNA sequencing is used to place a tumour along a developmental trajectory. Algorithm work includes fusion detection, methylation classification, and analysis designed for the small cohort sizes that paediatric rarity imposes.
Decisions
Treatment decision questions
Questions worth raising with a treating team when a decision is being made:
- Is care being delivered within a dedicated paediatric oncology service?
- Has germline assessment been discussed?
- Has fusion-capable testing been performed where relevant?
Resistance
Resistance and recurrence questions
- Has the molecular profile been reassessed at relapse?
Trials
Clinical trial considerations
Paediatric trials are concentrated in specialist networks; international discussion is often relevant.
When a precision oncology review may help
A review is most useful where the standard pathway has been exhausted or where the picture is more complicated than a protocol accounts for — rare presentations, treatment resistance, complex or apparently contradictory molecular findings, or a decision between several defensible options.
The output is a structured analysis and a set of questions for the treating team. It is not treatment, and it does not replace the treating oncologist.