Cancer surveillance for high-risk (predisposed) children — screening that finds problems early

A cancer predisposition syndrome means your child carries a genetic change — either inherited from a parent or occurring new in the child’s own cells — that raises the likelihood of a certain cancer developing at some point in life, often at a younger age than usual. Having such a syndrome does not mean your child will definitely develop cancer, and it does not mean cancer is present right now. It does mean that planned, regular surveillance is worthwhile, so that if anything does develop, it is found at the earliest and most treatable point. The CION paediatric oncology team works closely with clinical geneticists to confirm the diagnosis, explain what the specific syndrome means for your child’s individual risk, and set up a surveillance schedule that fits your family’s life.

The most frequently encountered paediatric cancer predisposition syndromes include Li-Fraumeni syndrome (TP53 gene variants, associated with a wide range of childhood cancers), hereditary retinoblastoma (RB1 gene), neurofibromatosis type 1 (NF1), familial Wilms tumour syndromes including WT1-related overgrowth syndromes such as Beckwith-Wiedemann syndrome, DICER1 syndrome (pleuropulmonary blastoma, thyroid tumours and others), constitutional mismatch repair deficiency (CMMRD), and BRCA1/BRCA2 pathogenic variants (relevant for adolescent risk planning). Each syndrome carries a distinct cancer risk profile and requires its own tailored surveillance approach. If a geneticist has identified any of these syndromes in your child, or if a close relative’s cancer has prompted genetic testing, our team can help you understand what that means in practice.

A surveillance programme is a planned schedule of clinical reviews and investigations designed to find early changes before they become a serious problem. Depending on your child’s specific predisposition, surveillance may include regular physical examinations, abdominal ultrasound scans, blood tests (including tumour markers where relevant), urine tests, and in some syndromes, periodic MRI imaging. The frequency and type of tests depend on the syndrome, the age of the child, and established guideline recommendations — the CION team follows international paediatric oncology surveillance protocols (NCCN and SIOPE guidelines where applicable). Surveillance visits are also an opportunity to discuss your child’s development, address any new concerns, and provide the family with updated guidance as the evidence evolves.

Families reach us in a number of ways. Some children are referred after a genetic diagnosis is confirmed — either following the diagnosis of a family member’s cancer or because a new unusual cancer was found in the child themselves and genetic testing was recommended. Others come after a paediatrician or surgeon has noticed a clinical feature associated with a known syndrome (for example, unusual birthmarks, one kidney being larger than expected, or an overgrowth pattern). You do not need a formal referral to contact us — if you have been told your child carries a cancer-related gene change, or if you are concerned about a family history of early-onset or unusual cancers, you can call 1800 202 8726 or book a free consultation directly. The first conversation is always with a doctor, never an administrator.

This is one of the most important questions families ask, and it deserves a thoughtful answer. For many children, regular check-ups — when explained age-appropriately and handled by a calm, familiar team — become routine rather than frightening. Children tend to take emotional cues from their caregivers: when parents understand the rationale and feel informed, children are more settled. The CION team includes access to paediatric psycho-oncology support to help both child and family navigate the emotional impact of living with a predisposition syndrome. We also make surveillance visits as quick, positive, and child-friendly as possible. Not doing surveillance, when a real risk is known, is usually the greater source of long-term parental anxiety.

For most cancer predisposition syndromes, the genetic change is lifelong and does not resolve. However, the risk profile often changes with age: some syndromes carry the highest risk in early childhood (for example, hepatoblastoma risk in certain overgrowth syndromes drops significantly after age 4), while others confer a risk that extends through adolescence and into adult life. Surveillance plans are designed to reflect this — they are not static documents but are reviewed and updated as your child grows. When a child reaches adulthood, care is typically transitioned to an adult genetics or oncology team with a full handover plan. The CION paediatric team will explain the expected trajectory for your child’s specific syndrome.