A surveillance clinic for children and adolescents with, or at risk of, hereditary cancer predisposition syndromes

To the Editor: Hereditary cancer predisposition syndromes (HCPS) account for at least 10% of paediatric cancers.1 Li‐Fraumeni syndrome (LFS) is a dominant HCPS caused by mutations in the TP53 gene and is associated with an 80–90% lifetime risk of cancer, commencing in infancy.2 Children of affected individuals are at 50% risk of inheriting the family mutation.

Surveillance programs, involving clinical review and medical imaging, are being used in paediatric populations with HCPS, as significantly higher overall survival is reported with early tumour detection.3 In 2018, the Paediatric Surveillance Clinic was established at Perth Children’s Hospital to provide surveillance for asymptomatic children with, or at 50% risk of developing, LFS and with other HCPS, and to address the needs of their families. Families with at‐risk children can choose to attend the clinic, allowing them to receive information, support and sufficient time to make a decision regarding genetic testing.

The quarterly clinic is in a general paediatric setting and offers surveillance for mutation‐positive children in line with eviQ guidelines — a free resource of evidence‐based, consensus‐driven cancer treatment and genetic testing protocols hosted by Cancer Institute NSW.4 Children at 50% risk of LFS, who have not had genetic testing, receive a six‐monthly clinical review and prompt assessment of any concerning symptoms during the interim period. Over an 18‐month period, the Paediatric Surveillance Clinic has seen 11 children from five families, aged from 3 months to 14 years. Most of these children are at risk of or have a TP53 mutation and one child has a VHL (Von‐Hippel‐Lindau) mutation.

The Paediatric Surveillance Clinic offers a holistic service with a multidisciplinary team consisting of a general paediatrician, a paediatric nurse, a paediatric oncologist, a genetic counsellor and a clinical geneticist. The clinic has highlighted the specific and unmet needs of families dealing with HCPS and has allowed for essential integration of genetic, paediatric and oncology services for these families.5 As the number of identified HCPS grows, the Paediatric Surveillance Clinic will continue to offer a flexible service that supports families, assisting with decisions around genetic testing and surveillance for malignancy during childhood and adolescence.