Imaging of cancer predisposition syndromes

Abstract

Pediatric cancer predisposition syndromes comprise a group of diseases characterized by specific tumors or a concomitance of tumors in infants, children and adolescents, suggesting a genetic cancer susceptibility condition. Most but not all have germline pathogenic variants on genetic testing. For some children with cancer predisposition syndromes, this diagnosis is based on their own or a family history of related neoplasms, or associated clinical manifestations. These tumors have variable incidence and age of onset. Imaging encompasses investigation in symptomatic children for diagnosis, staging and monitoring for treatment response and metastatic disease, as well as surveillance for primary tumors in asymptomatic children. In this review the author focuses on the role of surveillance imaging in childhood cancer predisposition syndromes, whole-body magnetic resonance imaging (whole-body MRI) in particular. Diagnosis and staging of specific tumors are addressed elsewhere in this series. The benefits of surveillance imaging include early detection and improved outcomes and are still being established for a number of cancer predisposition syndromes. The benefits must be weighed against risks including potential technique-related issues relating to sedation or contrast agents, false-positive imaging findings, and cost - both financial and psychosocial. The author discusses general principles for whole-body MRI interpretation along with findings in specific syndromes where whole-body MRI screening is recommended, such as Li-Fraumeni syndrome.

Keywords: Cancer predisposition syndrome; Children; Genetics; Li–Fraumeni syndrome; Oncology; Surveillance; Whole-body magnetic resonance imaging.