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

Abstract

Comprehensive knowledge of cancer predisposition syndromes (CPS) is essential for the implementation of surveillance programs with proven clinical benefit. An interdisciplinary expert panel was established at our center to facilitate early identification of children with suspected CPS. This retrospective cohort study assessed the diagnostic yield and clinical impact of this consultation model. A total of 144 pediatric patients were evaluated. Clinical characteristics, family histories, and molecular diagnostic results were systematically retrieved from medical records. Of the 144 individuals, 99 presented with clinical features suggestive of CPS, of whom 53 had cancer. Clinically asymptomatic children (45/144) were referred due to positive family history. Prior to consultation, 34 of 99 symptomatic patients had been diagnosed with CPS. Among those symptomatic and undiagnosed undergoing molecular genetic testing, a disease-causing variant was identified in CPS genes in 46% (23/50). Predictive testing in asymptomatic children revealed the familial pathogenic variant in 43.8% (14/32). Nearly all patients with confirmed CPS 93,4% (71/76) received surveillance recommendations. The interdisciplinary CPS consultation model contributes to identifying hereditary cancer predisposition in pediatric patients and families. This expert-led approach emphasizes the importance of personalized surveillance strategies for rare CPS entities and provides a scalable foundation for systematic CPS assessment and development of standardized, evidence-based surveillance protocols in pediatric oncology.