Cancer Predisposition Syndromes With Involvement of the Head and Neck Regions in Children: An Imaging Guide

Abstract

Cancer predisposition syndromes (CPSs) are a group of inherited disorders that significantly increase the risk of developing various cancers, ranging from infancy through adulthood. CPSs account for about 10% of the pediatric cancers, and they represent a major cause of morbidity and mortality in affected children. The inheritance pattern and the variable penetrance influence the age of onset and the clinical course, resulting in substantial variation in presentation, even within a single family. Early recognition of CPSs is crucial, as timely diagnosis allows for health surveillance, preventive interventions, and genetic counselling for patients and their families. Guidelines and surveillance programs have been developed to identify at-risk patients and coordinate long-term care. This review focuses on the most common CPSs associated with pediatric cancers, with particular emphasis on the involvement of the head and neck region. For each syndrome, we provide a background summary including its genetics and clinical manifestations, followed by a detailed description of characteristic head and neck imaging findings. Illustrative case examples are then presented to demonstrate the spectrum of clinical and imaging features. It highlights imaging features to assist providers reading these studies in the early identification of all possible pathological manifestations in these syndromes. Key CPSs covered include retinoblastoma, Li–Fraumeni syndrome, neurofibromatosis type 1, DICER1 syndrome, rhabdoid tumor predisposition syndrome, Gorlin–Goltz syndrome, hereditary paraganglioma–pheochromocytoma syndrome, constitutional mismatch repair deficiency syndrome, and neuroblastoma predisposition syndrome.