Magnetic Resonance Imaging Screening in Li Fraumeni Syndrome

Institute of Cancer Research, United Kingdom88 enrolled

Overview

This study is aimed at exploring the use of whole body MRI for early cancer detection in TP53 mutation carriers and population controls, with the hypothesis that more cancers will be detected in the TP53 mutation carrier group. A secondary end-point will be the number of incidental findings detected and subsequent investigations required. A series of questionnaires will be used to assess the psychological impact of screening on both the study and control group.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Li-Fraumeni Syndrome

Interventions

Whole body MRIOTHER

Individuals will undergo whole body and brain MRI

Psychological questionnairesOTHER

All recruits will complete questionnaires at 6 time points to assess psychological impact

Eligibility

Sex: ALLMin age: 18 YearsMax age: 60 YearsHealthy volunteers:

Medical Language ↔ Plain English

Inclusion Criteria: * Carrier of germline TP53 mutation which, in the view of the geneticist, is not known to be low penetrance OR non-related individual with no personal history of malignancy and no first degree relatives diagnosed with malignancy under the age of 50 years * Please note, TP53 carrier cohort is complete and no longer open to recruitment * Age between 18 and 60 * Able to give informed consent Exclusion Criteria: * Individual with low penetrance TP53 mutation * Individual with TP53 variant of unknown significance. * Previous malignancy diagnosed \< 5 years ago in TP53 carriers (except non-melanomatous skin cancer or cervical CIS) Previous history of malignancy in non-related controls (except non-melanomatous skin cancer or cervical CIS) * Current symptoms suggestive of malignancy * Contraindication to MRI (such as non-MR compatible metal implants) as specified by the standard MR safety checklist * Claustrophobia * ECOG performance status \>2

Locations (1)

Cancer Genetics Unit, Royal Marsden Hospital

Sutton, Surrey, United Kingdom

Outcomes

Primary Outcomes

Diagnosis of malignant disease

Following MRI scan further investigations may be required to diagnose malignancy

Time frame: Within 12 months of MRI scan

Secondary Outcomes

Diagnosis of relevant non-malignant disease

Further investigations may be required following the MRI to characterise such findings.

Time frame: 12 months following MRI scan

Diagnosis of non-relevant disease, number and type of investigations required

Time frame: 12 months following MRI

Psychological impact of MRI screening

Psychological questionnaires to be completed at intervals up till 12 months post scan

Time frame: 12 months following MRI screening

Data from ClinicalTrials.gov

This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.