Li-Fraumeni Syndrome Imaging Study

Study Overview
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Brief Summary
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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.

Official Title
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Novel Approaches to Molecular and Clinical Surveillance in Li-Fraumeni Syndrome - Pilot Study.

Conditions
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Li-Fraumeni Syndrome

Intervention / Treatment
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* Diagnostic Test: Whole body STIR MRI
* Diagnostic Test: DW-MRI
* Diagnostic Test: PET-MRI


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: LFS kindreds who either carry a known TP53 mutation or are obligate mutation carriers Exclusion Criteria: General contraindications for an MRI scan (ferromagnetic prostheses, pacemaker, or other implants incompatible with the magnetic field of the MR scanner), claustrophobia.

Ages Eligible for Study
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Maximum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Diagnostic
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: MRI Imaging<br>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<br>* Standard technique that detects abnormalities related to excess of water in tissues (edema).<br>Diagnostic Test: DW-MRI<br>* MRI technique that analyzes areas of dead cells within tissues, present in some types of tumor.<br>Diagnostic Test: PET-MRI<br>* MRI technique that detect's the cells' use of glucose, more intensely in harmful cells.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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. | Through study completion, an average of 2 years |