Tumour Surveillance Protocol May Boost TP53 Variant Carrier Survival

Regular imaging, biomarker analysis and physical check-ups can detect asymptomatic tumours in patients with Li-Fraumeni syndrome, increasing their likelihood of survival

medwireNews: Adherence to the long-term Toronto surveillance protocol can improve survival for individuals with Li-Fraumeni syndrome, suggests a study of patients carrying TP53 pathogenic variants.

After a median of 32 months, 40 asymptomatic tumours were detected in 32% of the 59 participants who agreed to undergo a comprehensive adult or child protocol, consisting of regular physical examinations and biochemical and imaging studies, including whole-body, brain and breast magnetic resonance imaging, mammography, colonoscopy, and abdominal and pelvis ultrasound.

Two patients were diagnosed with cancer between surveillance check-ups (false–negative reports) and a further two lesions were found to be benign on pathological review (false–positive reports).

Meanwhile, 61 symptomatic tumours were identified in 88% of the 49 individuals who declined surveillance, report David Malkin, from the University of Toronto in Ontario, Canada, and co-authors.

And after a median of 38 months, 84% of the 19 individuals who underwent surveillance and developed cancer were alive, whereas just 49% of the 43 patients who had declined surveillance and developed cancer were alive after a median of 46 months.

Five-year survival was achieved by 88.8% of the patients who underwent surveillance versus just 59.6% of the participants who did not, a significant difference.

“These data raise awareness of the importance and value of surveillance strategies for early tumour detection, not only in the context of Li-Fraumeni syndrome, but also for other syndromes of cancer susceptibility”, David Malkin et al write.

“We provide evidence to support health policy changes in the insurance industry and for global implementation of surveillance protocols in multidisciplinary health-care settings”, they say but admit that further genetic research is required before surveillance strategies can be further tailored to individuals at risk.

Discussing the “landmark study” in a linked comment, Sharon Plon, from Texas Children’s Cancer Center in Houston, USA, notes that the various surveillance protocol tools all played a role in the diagnosis of cancer.

“Thus, simplification of the Toronto protocol – as much as that might be preferred by families, clinicians, and insurers – would not seem to yield the same efficacy as would the full protocol”, she says.

She concludes that, in parallel with increased use of genomic tests for identifying patients with hereditary cancer and their relatives, “implementation of the Toronto protocol and similar protocols for other cancer susceptibility syndromes will become an increasingly important aspect of cancer risk management in the coming decade.”


Villani A, Shore A, Wasserman JD, et al. Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study. Lancet Oncol 2016 Advance online publication 5 August. DOI: http://dx.doi.org/10.1016/S1470-2045(16)30249-2

Plon SE. Improvement of outcomes for TP53 carriers. Lancet Oncol 2016; Advance online publication 5 August. DOI: http://dx.doi.org/10.1016/S1470-2045(16)30382-5

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