# 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.

## Key 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.