Recent Advances in Diagnostic and Surveillance Strategies for Childhood Cancer Predisposition Syndromes

• Published in: Clinical pediatric hematology-oncology Vol. 30; no. 1; pp. 1 - 10
• Main Author: Yoo, Jae Won
• Format: Journal Article
• Language: English
• Published: The Korean Society of Pediatric Hematology-Oncology 30.04.2023
• Subjects: child; genetic predisposition to disease; neoplasms
• ISSN: 2233-5250; 2233-5250
• DOI: 10.15264/cpho.2023.30.1.1

Cancer predisposition syndromes (CPS) are a group of genetic disorders that increase the risk of developing various types of cancer. The prevalence of CPS in children has been known to be up to 18-20% based on recent reports. However, this number may still be an underestimation. Appropriate surveillance and early detection of cancer is important for improving survival outcomes of patients with CPS, making it important for clinicians to recognize flag signs and refer patients to genetic counselling. Advances in high-throughput sequencing and imaging modalities, such as wholebody MRI, have enabled personalized risk assessment and patient-tailored management of CPS. Optimizing surveillance strategies is also a focus of recent research to minimize risks associated with screening procedures, radiation exposure, and psychological burden on patients and their families. This review aims to provide the latest updates on diagnostic and surveillance strategies for childhood CPS to assist pediatricians in recognizing, referring, and managing children at risk for CPS.