Cancer predisposition syndromes: an imaging review

Cancer predisposition syndromes (CPSs) are inherited disorders that increase the risk of developing cancer from childhood through adulthood. They account for up to 10% of pediatric tumors, making early recognition important for reducing morbidity and mortality. Because these syndromes show variable penetrance and a wide range of clinical presentations even within the same family, identifying affected children can be challenging. Imaging is an essential tool for diagnosis, surveillance and follow-up of children with cancer predisposition syndromes. In this review we summarize the main clinical and imaging features of Neurofibromatosis type 1, Neurofibromatosis type 2, von Hippel–Lindau disease, PTEN-hamartoma tumor syndrome, Beckwith–Wiedemann syndrome, and multiple endocrine neoplasia. The goal is to help radiologists and clinicians identify these conditions earlier and improve patient care. A clear understanding of the clinical and imaging features of cancer predisposition syndromes can support earlier identification, closer surveillance, and improved outcomes. Radiologists play a crucial role in recognizing characteristic patterns and guiding timely management for affected children and their families.