Updates on progress in cancer screening for children with hereditary cancer predisposition syndromes

A significant proportion of pediatric cancer occurs in children with hereditary cancer predisposition syndromes. Their survival may be significantly improved and/or late effects diminished through screening for their greatly elevated cancer risks. Here, an overview of new developments in the field of pediatric cancer surveillance is provided.

Consensus-based screening guidelines have been developed for most syndromes associated with childhood cancer risks. Studies evaluating the clinical utility of these screening regimens have also been emerging. This review focuses on three conditions for which consensus screening recommendations have been evolving in response to new evidence: Beckwith-Wiedemann syndrome, Li-Fraumeni syndrome, and constitutional mismatch repair deficiency syndrome. For each condition, recently proposed screening guidelines and relevant evidence are described and potential future directions for improving cancer surveillance practices are anticipated. Also, the implications of several recent studies exploring the psychosocial aspects of screening in these conditions are discussed.

Significant strides have been made in cancer surveillance for children with hereditary cancer predisposition syndromes. A continued emphasis on consensus-driven screening guidelines and collaborative research evaluating the clinical utility of recommended screening methodologies will lead to further improvements in the clinical outcomes of these vulnerable children.