An interventional study of Whole body STIR MRI and DW-MRI in Li-Fraumeni Syndrome, sponsored by The Hospital for Sick Children. Enrolling by invitation at 1 site in Canada. Open to participants aged Up to 18 Years. Per ClinicalTrials.gov, last updated 2026-04-29.
Sponsored by The Hospital for Sick Children · Not applicable, Interventional, and Diagnostic
Li-Fraumeni Syndrome (LFS) is a cancer predisposition disorder in which most affected individuals develop cancer during their lifetime. The majority of LFS patients carry a mutation in a gene called TP53, whose normal function is to control cell growth and prevent cells with damaged DNA from becoming cancerous. There is currently no way to determine when, where or what type of tumour will develop. This project will use novel techniques utilizing magnetic resonance imaging (MRI) to determine how sensitive they are at detecting very small tumors and how specific they are in terms of distinguishing malignant tumors from benign tumors.
Exclusion Criteria:
Participants will be imaged with the standard MRI technique (STIR-MRI) and also new MRI techniques called "diffusion weighted" or "DW" MRI and Positron Emission Tomography (PET)-MRI. PET-MRI will be indicated if the results from the routine MRI and DW MRI are contradictory or if laboratory results do not correspond to the standard MRI and DW MRI results.
Diagnostic Test: Whole body STIR MRI · Diagnostic Test: DW-MRI · Diagnostic Test: PET-MRI
Standard technique that detects abnormalities related to excess of water in tissues (edema).
MRI technique that analyzes areas of dead cells within tissues, present in some types of tumor.
MRI technique that detect's the cells' use of glucose, more intensely in harmful cells.
Evaluation of imaging traits on suspected tumors
Imaging traits include: signal heterogeneity, mass effect, and neurovascular bundle involvement (recorded on STIR MRI); necrosis, and signal/necrosis ratio (recorded on STIR and DW MRI): FDG metabolic activity and uptake (PET-MRI) or other additional imaging findings. Results will be combined and analyzed for "extraction" of imaging-gene expression phenotypes.
Time frame: Through study completion, an average of 2 years
Plan to share: No
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