Wilms tumour, also called nephroblastoma, is the most common kidney cancer in children. It usually occurs in children under five years of age and, in most cases, happens by chance rather than because of an inherited genetic condition. However, a small proportion of children with Wilms tumour have an underlying genetic predisposition that increases their risk of developing the cancer.
Understanding when a child may have an inherited predisposition can help families and healthcare professionals determine whether genetic testing and additional cancer surveillance may be appropriate.
What is Wilms tumour predisposition?
Wilms tumour predisposition refers to an increased likelihood of developing Wilms tumour because of a genetic change that is present in the body’s cells. Some genetic conditions are associated with an increased risk of Wilms tumour as well as other childhood or developmental features.
One of the best-known examples is WT1-related Wilms tumour predisposition. Changes in the WT1 gene can be associated with Wilms tumour, differences in kidney or genital development, and certain kidney conditions. Wilms tumour risk can also be increased in children with conditions such as Beckwith-Wiedemann syndrome, which is associated with changes affecting a region of chromosome 11.
Other genetic conditions and chromosomal changes can also be associated with an increased risk of Wilms tumour.
When should genetic predisposition be considered?
Genetic assessment may be considered when a child with Wilms tumour has features that suggest an underlying predisposition. These may include:
- Wilms tumour occurring at an unusually young age
- Tumours affecting both kidneys or multiple tumours in the same kidney
- A family history of Wilms tumour or related childhood cancers
- Physical or developmental features associated with a known Wilms tumour predisposition syndrome
- Kidney or genital abnormalities
- Overgrowth or asymmetry of parts of the body
- A history of other tumours or medical features that may form part of a recognised genetic syndrome
Importantly, not every child with Wilms tumour will need genetic testing. A genetic counsellor and clinical geneticist can review the child’s medical history, pathology, family history and other features to determine whether testing is appropriate.
Why does genetic testing matter?
Identifying an underlying genetic predisposition can provide useful information for the child’s ongoing care. Depending on the specific genetic finding, children may be offered a personalised surveillance program designed to detect Wilms tumour or other associated cancers as early as possible.
A genetic diagnosis can also help explain why a child developed Wilms tumour and may provide important information for parents and other relatives. Some predisposition conditions can be inherited from a parent, while others result from a new genetic change in the child.
Genetic testing can therefore have implications beyond the individual child. However, testing children requires careful consideration of the potential benefits, limitations and implications for the whole family.
Genetic counselling for Wilms tumour predisposition
Genetic testing is most useful when it is guided by the child’s clinical history and undertaken with appropriate genetic counselling. Testing is not simply about finding a genetic change. It is about understanding what that finding means and how it may influence medical care.
At Rosalind Genetics, our genetic counsellors work alongside experienced clinical geneticists and medical oncologists to assess children and families where there may be a hereditary cancer or genetic predisposition. We can help families understand whether genetic testing may be appropriate, what testing can and cannot tell them, and what the results may mean for their child’s future care and other family members.
If your child has Wilms tumour, a family history of Wilms tumour, or features that may suggest an underlying genetic condition, genetic counselling can help determine whether further assessment is appropriate.
