Imaging of Cancer Predisposition Syndromes in Children

Abstract

The term cancer predisposition syndrome (CPS) encompasses a multitude of familial cancers in which a clear mode of inheritance can be established, although a specific gene defect has not been described in all cases. Advances in genetics and the development of new imaging techniques have led to better understanding and early detection of these syndromes and offer the potential for preclinical diagnosis of any associated tumors. As a result, imaging has become an essential component of the clinical approach to management of CPSs and the care of children suspected of having a CPS or with a confirmed diagnosis. Common CPSs in children include neurofibromatosis type 1, Beckwith-Wiedemann syndrome, multiple endocrine neoplasia, Li-Fraumeni syndrome, von Hippel-Lindau syndrome, and familial adenomatous polyposis. Radiologists should be familiar with these syndromes, their common associated tumors, the new imaging techniques that are available, and current screening and surveillance recommendations to optimize the assessment of affected children.

Diagnostic Performance of Whole-Body MRI as a Tool for Cancer Screening in Children With Genetic Cancer-Predisposing Conditions

“…Although the sensitivity and specificity of whole-body MRI in that report were high, there were several false-positive results, which necessitated multiple follow-up investigations. Based on the limited information to date in both the oncology and radiology literature, it remains unclear whether whole-body MRI is an accurate and effective means by which to screen high-risk pediatric patients for cancer [8].…”

Tumor Protein p53 (TP53) Testing and Li-Fraumeni Syndrome

“…[112, 113] However, recent reports show that enhanced screening protocols can detect early stage disease and improve outcome in LFS patients. [95, 113, 114] …”

Imaging Techniques Used in the Diagnosis of Pediatric Tumors

“…Children with other cancer predisposition syndromes also benefi t from abdominal screening US to detect associated tumors in other organs. This subject is beyond the scope of this chapter but has been recently reviewed [ 17 ].…”