Magnetic Resonance Imaging Screening in Li Fraumeni Syndrome

Completed

• Conditions: Li-Fraumeni Syndrome
• Interventions: Other: Whole body MRI; Other: Psychological questionnaires

• Registration Number: NCT01737255
• Lead Sponsor: Institute of Cancer Research, United Kingdom

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2012-10
• Study First Submitted: 2012-11-27
• Study First Submitted QC: 2012-11-27
• Study First Posted: 2012-11-29
• Primary Completion: 2016-09
• Study Completion: 2017-12
• Status Verified: 2022-03
• Last Update Submitted: 2022-03-30
• Last Update Posted: 2022-03-31

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 88

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
TP53 mutation carriers	Whole body MRI	Carriers of TP53 mutation not known to be low penetrance
TP53 mutation carriers	Psychological questionnaires	Carriers of TP53 mutation not known to be low penetrance
Population controls	Whole body MRI	Population controls will be sex and aged matched (+/- 5 years) to the TP53 mutation carrier group, with no personal history of cancer and no family history of cancer diagnosed under 50 years
Population controls	Psychological questionnaires	Population controls will be sex and aged matched (+/- 5 years) to the TP53 mutation carrier group, with no personal history of cancer and no family history of cancer diagnosed under 50 years

Primary Outcome Measures

Name	Time	Method
Diagnosis of malignant disease	Within 12 months of MRI scan	Following MRI scan further investigations may be required to diagnose malignancy

Secondary Outcome Measures

Name	Time	Method
Diagnosis of relevant non-malignant disease	12 months following MRI scan	Further investigations may be required following the MRI to characterise such findings.
Diagnosis of non-relevant disease, number and type of investigations required	12 months following MRI
Psychological impact of MRI screening	12 months following MRI screening	Psychological questionnaires to be completed at intervals up till 12 months post scan

Trial Locations

Locations (1)

Cancer Genetics Unit, Royal Marsden Hospital; 🇬🇧 Sutton, Surrey, United Kingdom