Advanced MRI Techniques for Li-Fraumeni Syndrome

Age: < 65

Sex: Any

Trial Phase: Academic

Sponsor: The Hospital for Sick Children

Disqualifiers: Ferromagnetic prostheses, pacemaker, claustrophobia

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: Unknown

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial explores new MRI techniques to detect small tumors in individuals with Li-Fraumeni Syndrome (LFS), a genetic condition that increases cancer risk due to a TP53 gene mutation. The researchers aim to evaluate how well these MRI methods identify tumors and distinguish between cancerous and non-cancerous growths. Participants will undergo various MRI scans, including diffusion-weighted MRI (DW-MRI), PET-MRI (Positron Emission Tomography-Magnetic Resonance Imaging), and whole-body STIR MRI, to compare their effectiveness. Suitable candidates are those with LFS who know they carry a TP53 gene mutation. As an unphased trial, this study offers a unique opportunity to contribute to groundbreaking research that could enhance early tumor detection for individuals with LFS.

Will I have to stop taking my current medications?

The trial information does not specify whether you need to stop taking your current medications.

What prior data suggests that these MRI techniques are safe for detecting tumors in Li-Fraumeni Syndrome patients?

Research has shown that whole-body MRI safely checks for cancer in people with Li-Fraumeni Syndrome (LFS). This method avoids radiation, crucial for those sensitive to it. Studies indicate that whole-body MRI is patient-friendly and rarely necessitates invasive follow-up tests.

In similar contexts, research shows PET-MRI effectively detects cancers early. Although PET-MRI uses small amounts of radioactive tracers, it is generally considered safe and beneficial for early cancer detection in at-risk groups.

Overall, MRI techniques, including DW-MRI, PET-MRI, and whole-body STIR MRI, have research support as safe and effective for detecting cancer in people with LFS. They offer a non-invasive way to monitor health without the risks associated with traditional imaging methods that use radiation. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Researchers are excited about advanced MRI techniques for Li-Fraumeni Syndrome because these methods offer a more detailed and comprehensive picture of the body than traditional imaging options. DW-MRI, or diffusion-weighted MRI, provides insight into tissue structure by measuring the movement of water molecules, which can help detect tumors at an earlier stage. PET-MRI combines metabolic information from PET scans with the anatomical detail of MRIs, potentially improving the accuracy of cancer detection. These advanced imaging techniques could lead to earlier and more accurate diagnosis, crucial for managing Li-Fraumeni Syndrome, a condition associated with a high risk of developing multiple cancers.

What evidence suggests that these MRI techniques are effective for detecting tumors in Li-Fraumeni Syndrome?

Research has shown that advanced MRI techniques can help detect cancers in people with Li-Fraumeni Syndrome (LFS). In this trial, participants will undergo imaging with Whole-body MRI (WB-MRI), including diffusion-weighted MRI (DW-MRI), which has successfully found early cancers, with detection rates between 7% and 16% in various studies. This method is recommended for yearly cancer screening in LFS patients. If results from the routine MRI and DW-MRI are contradictory or if laboratory results do not align with the standard MRI and DW-MRI findings, PET-MRI will be used. PET-MRI has also effectively identified cancers in asymptomatic patients, with some studies finding cancers in 20% of cases. These imaging methods aim to detect tumors early, which is crucial for people with LFS. ^{1 3 5 6 7}

Who Is on the Research Team?

Andrea Doria, MD

Principal Investigator

The Hospital for Sick Children

Are You a Good Fit for This Trial?

This trial is for individuals with Li-Fraumeni Syndrome (LFS), a condition that greatly increases cancer risk. Participants must either carry a known TP53 mutation or be direct relatives of mutation carriers. They cannot take part if they have metal implants, pacemakers, or severe claustrophobia due to the MRI requirements.

Inclusion Criteria

My family has a known TP53 mutation, and I might carry it too.

Exclusion Criteria

You have metal implants in your body that are not safe for an MRI scan.

You are afraid of small, enclosed spaces.

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Imaging

Participants undergo MRI imaging using standard and novel techniques to detect and differentiate tumors

2 years

Regular imaging sessions as per study protocol

Follow-up

Participants are monitored for safety and effectiveness of imaging techniques

4 weeks

What Are the Treatments Tested in This Trial?

Interventions

• DW-MRI
• PET-MRI
• Whole body STIR MRI

Trial Overview The study is testing advanced MRI techniques including PET-MRI, Whole body STIR MRI, and DW-MRI to detect small tumors in LFS patients. It aims to determine how effective these methods are at identifying malignant versus benign tumors.

How Is the Trial Designed?

Group I: MRI Imaging Experimental Treatment 3 Interventions

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.

Who Is Running the Clinical Trial?

The Hospital for Sick Children

Lead Sponsor

Trials

724

Recruited

6,969,000+

Published Research Related to This Trial

The introduction of combined PET/MRI systems at Rigshospitalet has shown promising results in imaging various types of cancer, including brain tumors and pediatric oncology, indicating that it performs well compared to traditional PET/CT imaging.

While initial clinical cases suggest that PET/MRI could enhance cancer diagnosis and treatment monitoring, further large-scale studies are necessary to determine the optimal use of this technology in clinical practice.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

PET/MRI in cancer patients: first experiences and vision from Copenhagen. Kjær, A., Loft, A., Law, I., et al.[2021]

Whole-body magnetic resonance imaging (MRI) has become a crucial tool in pediatric oncology, significantly improving the screening, diagnosis, and follow-up of children with solid tumors while avoiding the risks associated with ionizing radiation from traditional imaging methods.

The use of advanced metabolic and functional MRI techniques enhances the ability to assess tumor response and stage disease, contributing to better treatment outcomes for pediatric patients, especially when cancers are diagnosed early.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Whole-body MRI in pediatric patients with cancer. Guimarães, MD., Noschang, J., Teixeira, SR., et al.[2018]

Citations

1. jmg.bmj.com jmg.bmj.com/content/early/2025/06/30/jmg-2025-110704

Evaluation of whole-body MRI for cancer early detection in ... Other studies have reported outcomes from single baseline WB-MRI scans in individuals with LFS12 14 18 with cancer detection in 7–16% of ...

2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC6092833/

Whole-body magnetic resonance imaging of Li-Fraumeni ... The success rate for the execution of the initial WB-MRI screenings was high (95%). Only two pediatric patients and one adult patient who was ...

3. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC8558201/

Whole-body magnetic resonance imaging (WB-MRI) for ... A meta-analysis by Ballinger et al. showed a cancer prevalence of 7% among 578 subjects with LFS who underwent baseline staging with WB-MRI [59]. These data ...

4. annalsofoncology.org annalsofoncology.org/article/S0923-7534(24)02774-1/fulltext

1195P Whole-body magnetic resonance imaging (WB-MRI ... Overall, 9 cancers in 54 individuals were diagnosed with the help of WB-MRI. The rate of cancers detected in this cohort was higher than expected in a general ...

5. link.springer.com link.springer.com/article/10.1007/s00330-025-11880-y

Optimizing whole-body MRI for early cancer detection in Li ... Annual whole-body MRI (WB-MRI) is recommended for early cancer detection in individuals with Li-Fraumeni syndrome (LFS).

6. pubs.rsna.org pubs.rsna.org/doi/full/10.1148/rg.230202

Li-Fraumeni Syndrome: Imaging Features and Guidelines The lifetime risk of cancer in individuals with LFS is greater than 70% in males and greater than 90% in females. Some patients with LFS develop ...

7. ajronline.org ajronline.org/doi/10.2214/AJR.20.23008

Li-Fraumeni Syndrome and Whole-Body MRI Screening Patients with LFS are very susceptible to radiation, therefore the use of whole-body MRI is recommended for regular cancer screening.