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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| MRI Imaging | Experimental | 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. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Whole body STIR MRI | Diagnostic Test | Standard technique that detects abnormalities related to excess of water in tissues (edema). |
|
| 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 |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Andrea Doria, MD | The Hospital for Sick Children | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| The Hospital for Sick Children | Toronto | Ontario | M5G 1X8 | Canada |
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| ID | Term |
|---|---|
| D016864 | Li-Fraumeni Syndrome |
| ID | Term |
|---|---|
| D009386 | Neoplastic Syndromes, Hereditary |
| D009369 | Neoplasms |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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| ID | Term |
|---|---|
| D038524 | Diffusion Magnetic Resonance Imaging |
| ID | Term |
|---|---|
| D008279 | Magnetic Resonance Imaging |
| D014054 | Tomography |
| D003952 | Diagnostic Imaging |
| D019937 | Diagnostic Techniques and Procedures |
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| DW-MRI | Diagnostic Test | MRI technique that analyzes areas of dead cells within tissues, present in some types of tumor. |
|
| PET-MRI | Diagnostic Test | MRI technique that detect's the cells' use of glucose, more intensely in harmful cells. |
|
| D049914 | DNA Repair-Deficiency Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D003933 | Diagnosis |