Radiologist’s primer on imaging of common hereditary cancer syndromes

Recent advances in pathology and genetics have improved our understanding of the pathogenesis of inherited and sporadic malignancies. Detailed studies of hereditary cancer syndromes—which contribute to 5%–10% of the overall cancer burden—have shed new light on the important role of genetic abnormalities in tumor metabolism, oncologic pathways, and clinicobiologic behavior. Many inherited cancer syndromes are characterized by development of pathognomonic histotypes of neoplasms in specific target organs. Cross-sectional imaging plays an integral role in diagnosis, screening, surveillance, and treatment of patients with a wide spectrum of cancer syndromes. This article focuses on the imaging spectrum of select hereditary cancer syndromes, featuring imaging features of associated common and uncommon tumors and conditions in each syndrome, along with screening and surveillance recommendations for each condition. MRI has proved to be a useful screening modality in such patients, as these patients are often young and require prolonged screening; MRI has the added advantage of better soft-tissue contrast without ionizing radiation. The whole-body MRI protocol is also briefly discussed. The radiologist is sometimes the first physician to encounter such patients, and knowledge of these syndromes can help identify these patients earlier and impact their care by timely diagnosis and intervention. This also benefits the family members, as they can also undergo genetic testing and obtain an early diagnosis and screening.