Imaging Approaches to Surveillance in Children With Cancer Predisposition Syndromes, From the <i>AJR</i> Special Series on Screening.

Perrino, Melissa R; Pinto, Soniya; Pande, Nisha; Morin, Cara; Wee, Tracee; Davis, J Christopher; Khalatbari, Hedieh; Shulkin, Barry et al. · AJR Am J Roentgenol · 2026

review · Level V

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Abstract

Over 100 pediatric cancer predisposition syndromes (CPS) are now recognized, each conferring unique risks for cancer and, at times, nononcologic manifestations. Identification of children at increased genetic risk for cancer can optimize outcomes by informing clinical care, including the institution of cancer surveillance to identify tumors at their earliest and most treatable stages. Within surveillance regimens, imaging maintains a prominent role among testing methods. The large menu of available imaging tests provides ample options for detecting incipient tumors. The imaging examination performed depends on the underlying predisposition syndrome, expected age of tumor occurrence, and attributes of the modality. As surveillance for many CPS includes lifelong repeated imaging, surveillance protocols must consider cumulative toxicities, including anesthesia and radiation exposure, as well as potential economic burdens. This review explores imaging modalities used for pediatric cancer surveillance, critically assessing the association between modality-specific attributes and pediatric cancer surveillance practices. The article focuses on the most common and penetrant CPS in childhood and provides illustrative cases to show the radiologic concepts underpinning the current recommendations. Rapid advances in imaging techniques, further recognition of genotype-phenotype associations within CPS, and the emergence of nonimaging surveillance possibilities, including circulating DNA, make the space of surveillance for pediatric CPS an ever-changing field.

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