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A pilot surveillance study in TP53 mutation carriers
utilizing whole body MRI
Mandy Ballinger PhD
Peter MacCallum Cancer CentreMelbourne, Australia
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Cancer r isk Lifetime cancer risk in TP53 families ascertained on family history
>90% females & 60% males by age 50 - Li Fraumeni Syndrome
International Sarcoma Kindred Study (ISKS) 1/30 sarcoma cases carry a germ line TP53 variant
Penetrance in families ascertained by genotype is not known
Increasing genomic capacity detecting more TP53 carriers creating a pressing clinical need
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Current guidel ines
LFS spectrum of cancerssarcomas, leukemias, brain tumours, breast cancers,adrenocorticol tumours & others
Surveillance recommendations focus on breast and CRC risk
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Previous studies
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Col laborati ons
SIGNIFY Ros Eeles UK
Li Fraumeni Exploration (LiFE) ConsortiumMai et al.
Cancer Genet 2012 205(10):479-87
Institut Gustav Roussy France LIFSCREEN Sick Kids Canada TORONTO PROTOCOL AC Camargo Cancer Centre BrazilDana Farber Cancer Institute USANational Cancer Institute USA
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Survei l lance protocol
Primary objective Estimate the prevalence and incidence of
investigable lesions by WBMRI
Eligibility criteriaTP53 mutation carrier or 50% riskAged 18-70 yrsECOG 0 or 1No active cancer diagnosis
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Schedule
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Demographics
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WBMRIWBMRI ~ 2 hrs
2 independent reads
Discussion
Comparison with previous scans
Further investigations or not
13 scans completed 10 yr1, 3 yr2
4 patients requiring further investigations
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WBMRI fo l low up
Patient 4Lumbar region L2-L5105 x 63 x 39mm massT2 hyperintense noduleWDLPS
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Other screening 15 clinical reviews & physical exams (11 yr1 & 4 yr2)
8 referrals: 5 skin reviews (2 lesions excised, 1 BCC)
1 urology (PSA)
2 radiology (2 US of surgical scars)
2 colonoscopies 2 gastroscopies 15 full blood evaluations 4 breast MRI 5 clinical breast exams 1 US liver lesion (seen on breast MRI)
4 FOBT (2 results pending)
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Psychologica l impact
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Summary
12 participants, 13 WBMRI
WBMRI F/UP 7 further investigations in 4 individuals 2 malignancies detected
No adverse psychological impact
Findings so far support continuation to allow longer term evaluation
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AcknowledgementsSMOC participants
The Johanna Sewell Memorial Fund
SMOC investigatorsGillian Mitchell (Principal Investigator)Sue ShanleyDavid ThomasNick FerrisKate MoodieClair ShadboltMarion HarrisMary-Anne YoungJanet HillerKate McBride
SIGNIFYRos EelesEmma Killick
LiFE Consortium
Data ManagementEveline Niedermayr
Jo McKinleyLara PetelinkConFab team