Cancer predisposition syndromes: an imaging review

TL;DR

This review explains how imaging can help identify cancer predisposition syndromes in children, improving early diagnosis and care.

Contribution

The paper provides a focused imaging review of key cancer predisposition syndromes to aid radiologists and clinicians in early detection.

Findings

Imaging is crucial for diagnosing and monitoring cancer predisposition syndromes in children.

Recognizing imaging features can lead to earlier identification and better patient outcomes.

Radiologists play a key role in identifying characteristic patterns of these syndromes.

Abstract

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.

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