Oral Presentation Clinical Oncology Society of Australia Annual Scientific Meeting 2021

Surveillance in multi-organ cancer predisposition (#50)

Mandy Ballinger 1 2
  1. St Vincent’s Clinical School, Faculty of Medicine, UNSW, Sydney, NSW, Australia
  2. Garvan Institute of Medical Research, Darlinghurst, NSW, Australia

Cancer is a major cause of morbidity and mortality globally. Sequencing is increasingly revealing individuals at risk due to heritable genotypes. Early detection and intervention are critical to cost effectively reducing the impact of cancer and surveillance may be a key risk management strategy. There are established surveillance modalities for some organ specific cancers. However, there are several cancer genes associated with an extremely high lifetime risk of multi-organ cancer but comprehensive risk management guidelines are lacking.  Emerging reports suggest benefit from surveillance from whole body magnetic resonance imaging (WBMRI). The Australian Surveillance study in Multi-Organ Cancer prone syndromes (SMOC+) will be presented. The TP53 schedule includes annual WBMRI, physical examination, full blood evaluation, breast MRI (females), fecal occult blood test (FOBT) and 2-5 yearly colonoscopy/endoscopy.  Of 117 pathogenic or likely pathogenic variant carriers (72F, 43M; age 18-63 at consent) in multi-organ cancer risk genes (97 TP53, 7 RB1, 5 BAP1, 2 polygenic, 2 BLM, 1 Maffucci, 1 VHL, 1 NF1, 1 CMMRD), 61individuals report 106 prior cancers. Baseline physical examinations (n= 110) resulted in detection of a melanoma and a BCC. One hundred and ten baseline WBMRI scans detected 9 new tumours (2 prostate cancers, 2 brain tumours, 1 sarcoma, 1 DCIS, 1 thyroid cancer, 1 renal cancer, 1 haemangioblastoma).  Subsequent physical examinations (n=173) found 2 melanomas, 1 lung cancer, 1 thyroid cancer and 1 basal cell carcinoma. WBMRI in subsequent years (n=187) detected 9 new asymptomatic malignancies (4 sarcomas, 1 lung cancer, 1 phaeochromocytoma, 1 low grade glioma, 1 prostate cancer and 1 colorectal cancer). Other surveillance included 67 colonoscopies, 64 endoscopies, 65 breast MRI, 269 full blood evaluations and 39 FOBT with 8 new malignancies detected. The detection of 32 new primary cancers supports further evaluation of WBMRI in multi-organ cancer predisposition.