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Update on Whole-Body MRI Surveillance for Pediatric Cancer Predisposition Syndromes
Mary-Louise C Greer1,2, Lisa J States3, David Malkin4,5
1Department of Diagnostic and Interventional Radiology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Insights
Whole-body MRI (WBMRI) is crucial for screening pediatric cancer predisposition syndromes. This review updates WBMRI recommendations, discussing its application, accuracy, and integration with new technologies.
Area of Science:
- Oncology
- Radiology
- Genetics
Background:
- Whole-body MRI (WBMRI) is a key tool for early cancer detection in pediatric cancer predisposition syndromes.
- Syndromes like Li-Fraumeni and constitutional mismatch repair deficiency benefit from WBMRI surveillance.
- The role and recommendations for WBMRI are continually evolving with new research and clinical experience.
Purpose of the Study:
- To update recommendations for WBMRI in pediatric cancer predisposition syndromes.
- To review the diagnostic accuracy and application of WBMRI.
- To consider WBMRI's use in resource-limited settings and its integration with emerging technologies.
Main Methods:
- Review of existing literature and guidelines.
- Expert consensus from an international multidisciplinary panel convened by the AACR in 2023.
- Update of prior 2017 recommendations based on current evidence.
Main Results:
- WBMRI remains integral for surveillance in specific pediatric cancer predisposition syndromes.
- Recommendations for WBMRI acquisition and interpretation are updated.
- The potential of WBMRI in resource-poor settings and alongside liquid biopsies and AI is explored.
Conclusions:
- WBMRI is a valuable component of surveillance protocols for pediatric cancer predisposition syndromes.
- Updated guidelines reflect current evidence and expert opinion.
- Future directions include optimizing WBMRI use and integrating it with novel diagnostic tools.
Abstract:
Whole-body MRI (WBMRI) is an integral part of screening infants, children, and adolescents for presymptomatic neoplasms in certain cancer predisposition syndromes, which include Li-Fraumeni and constitutional mismatch repair deficiency syndromes, among others. The list of syndromes in which WBMRI adds value, as part of a comprehensive surveillance protocol, continues to evolve in response to new evidence, growing experience, and more widespread adoption. In July 2023, the AACR reconvened an international, multidisciplinary panel to revise and update recommendations stemming from the 2016 AACR Special Workshop on Childhood Cancer Predisposition. That initial meeting resulted in a series of publications in Clinical Cancer Research in 2017, including "Pediatric Cancer Predisposition Imaging: Focus on Whole-Body MRI." This 2024 review of WBMRI in cancer predisposition syndrome updates the 2017 WBMRI publication, the revised recommendations derived from the 2023 AACR Childhood Cancer Predisposition Workshop based on available data, societal guidelines, and expert opinion. Different aspects of acquiring and interpreting WBMRI, including diagnostic accuracy, are discussed. The application of WBMRI in resource-poor environments, as well as integration of whole-body imaging techniques with emerging technologies, such as cell-free DNA ("liquid biopsies") and artificial intelligence/machine learning, is also considered.
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