Interdisciplinary management and genetic evaluation of pediatric cancer predisposition syndromes: a retrospective cohort study.

Disease-causing variants in paediatric cancer predisposition genes, sought by molecular testing after assessment by an interdisciplinary expert panel

Comprehensive knowledge of cancer predisposition syndromes is essential for implementing surveillance programmes with proven clinical benefit, and an interdisciplinary expert panel was established at the authors' centre to facilitate early identification of children with suspected syndromes. This retrospective cohort study, based on medical records, assessed the diagnostic yield and clinical impact of this consultation model in 144 children: 99 presented clinical features suggestive of a predisposition syndrome, of whom 53 had cancer, and 45 asymptomatic children were referred because of a positive family history. Before the consultation, 34 of the 99 symptomatic patients had already been diagnosed with a predisposition syndrome; among symptomatic, undiagnosed patients who underwent molecular testing, a disease-causing variant was identified in 46% (23 of 50), and predictive testing in asymptomatic children revealed the familial pathogenic variant in 43.8% (14 of 32). Nearly all patients with a confirmed syndrome (93.4%; 71 of 76) received surveillance recommendations. The authors conclude that this model contributes to identifying hereditary cancer predisposition in children and their families and provides a scalable foundation for systematic assessment and for developing standardised, evidence-based surveillance protocols in paediatric oncology.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

Two figures help when explaining to a family what the consultation can offer: a disease-causing variant in 46% (23 of 50) of symptomatic, undiagnosed children who were tested, and the familial variant in 43.8% (14 of 32) of asymptomatic children tested predictively. This is, however, a single-centre retrospective series of 144 children: it measures a yield and the frequency of surveillance recommendations (93.4%), not the benefit of that surveillance nor that of a panel-based organisation compared with a conventional pathway, the abstract reporting neither a comparator nor the children's outcomes. It does not detail the genes involved either, so the scalability claimed by the authors remains to be demonstrated.

Analysis by Dr Thibaut Benquey