Work

Cancer predisposition syndromes: an imaging review

Year: 2026

Type: article

Abstract: BACKGROUND: 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. MAIN BODY: 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. CONCLUSION: 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.

Source: Cancer Imaging

DOI: 10.1186/s40644-026-01003-1

Authors: Livja Mertiri, Huy Brandon Tran, Denada Mertiri, Maarten Lequin, Nilesh K. Desai, Thierry A. G. M. Huisman

Institutions: Baylor College of Medicine, Texas Children's Hospital, University of Rome Tor Vergata

Language: English

Topic: Neurofibromatosis and Schwannoma Cases

Subfield: Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,790