Imaging of cancer predisposition syndromes in children

The term cancer predisposition syndrome (CPS) encompasses a multitude of familial cancers in which a clear mode of inheritance can be established, although a specific gene defect has not been described in all cases. Advances in genetics and the development of new imaging techniques have led to better understanding and early detection of these syndromes and offer the potential for preclinical diagnosis of any associated tumors. As a result, imaging has become an essential component of the clinical approach to management of CPSs and the care of children suspected of having a CPS or with a confirmed diagnosis. Common CPSs in children include neurofibromatosis type 1, Beckwith-Wiedemann syndrome, multiple endocrine neoplasia, Li-Fraumeni syndrome, von Hippel-Lindau syndrome, and familial adenomatous polyposis. Radiologists should be familiar with these syndromes, their common associated tumors, the new imaging techniques that are available, and current screening and surveillance recommendations to optimize the assessment of affected children.