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Imaging of Children with Cancer Predisposition Syndromes

  • Sudha A. AnupindiEmail author
  • Ethan A. Smith
  • Nancy A. Chauvin
Chapter
Part of the Pediatric Oncology book series (PEDIATRICO)

Abstract

Five to ten percent of all pediatric tumors are associated with a genetic predisposition. In this chapter, we will discuss the main imaging examinations used in the evaluation of specific cancer predisposition syndromes (CPS) including Wilms’ tumor predisposition syndromes, Li-Fraumeni syndrome, and neurofibromatosis type 1, as well as more rare syndromes that have specific features, including DICER1 mutations, familial paraganglioma syndromes, and multiple endocrine neoplasia syndromes. Currently, ultrasound (US) and whole-body MRI (WBMRI) are the main modalities utilized for tumor surveillance in these children with cancer predisposition syndromes. Contrast-enhanced ultrasound and WBMRI with positron emission tomography (PET) are emerging as adjunct imaging tools in oncological imaging. In our discussion, we will also highlight the advantages and limitations of US and WBMRI and emphasize the importance of expert imaging interpretation and appropriate communication to clinicians and families.

Keywords

Cancer predisposition syndromes Screening Test Imaging Children WBMRI Ultrasound 

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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Sudha A. Anupindi
    • 1
    Email author
  • Ethan A. Smith
    • 2
  • Nancy A. Chauvin
    • 3
  1. 1.Department of RadiologyChildren’s Hospital of PhiladelphiaPhiladelphiaUSA
  2. 2.Department of RadiologyCincinnati Children’s Hospital Medical CenterCincinnatiUSA
  3. 3.Department of RadiologyHershey Children’s HospitalHersheyUSA

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