Li-Fraumeni Syndrome Imaging Study

The Hospital for Sick Children

Status: Invitation-only

Conditions: Li-Fraumeni Syndrome

Treatments: Diagnostic Test: PET-MRI; Diagnostic Test: Whole body STIR MRI; Diagnostic Test: DW-MRI

Study type: Interventional

Funder types: Other

Identifiers

NCT03176836

1000053416

Details and patient eligibility

About

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.

Enrollment: 30 estimated patients

Sex: All

Ages: Under 18 years old

Volunteers: No Healthy Volunteers

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.

Trial design

Primary purpose: Diagnostic

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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30 participants in 1 patient group

MRI Imaging

Experimental group

Description:

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.

Treatment:

Diagnostic Test: DW-MRI

Diagnostic Test: PET-MRI

Diagnostic Test: Whole body STIR MRI