a pilot surveillance study in tp53 mutation carriers utilizing whole body mri mandy ballinger phd...
TRANSCRIPT
A pilot surveillance study in TP53 mutation carriers
utilizing whole body MRI
Mandy Ballinger PhD
Peter MacCallum Cancer CentreMelbourne, Australia
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
Current guidel ines
LFS spectrum of cancerssarcomas, leukemias, brain tumours, breast cancers,adrenocorticol tumours & others
Surveillance recommendations focus on breast and CRC risk
Previous studies
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
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
Schedule
Demographics
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
WBMRI fo l low up
Patient 4Lumbar region L2-L5105 x 63 x 39mm massT2 hyperintense noduleWDLPS
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)
Psychologica l impact
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
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