Background: Carriers of a germline TP53 mutation have a substantial lifetime risk of developing cancer. We sought to update our evaluation of a comprehensive surveillance protocol for individuals with Li-Fraumeni syndrome. Methods: A clinical surveillance protocol, utilizing frequent biochemical and imaging studies, was introduced at three tertiary care centres on January 1, 2004 for TP53 mutation carriers. We conducted a prospective observational study of individuals in 20 families who either chose to undergo surveillance or who declined surveillance. The primary outcome measure was detection of new cancers. Results: As of January 1, 2015, 46 TP53 mutation carriers were identified. Thirty-one individuals have undergone surveillance over an average period of 65 months (range 4-150 months), and 20 asymptomatic tumors have been detected in 10 patients. Two additional cancers were diagnosed between assessments. Twelve incidental findings were documented, most of which led to additional imaging and 2 of which led to a biopsy. Among the 22 patients who declined surveillance, 21 symptomatic tumors were diagnosed in 19 patients. Seven of the 19 patients not on surveillance who developed cancer are alive, compared to 8 of the 10 patients on surveillance who developed cancer. Individuals demonstrated nearly 100% compliance with the surveillance protocol. Conclusions: We demonstrate the sustained feasibility and utility of a surveillance protocol for the early detection of neoplasms in individuals with germline TP53 mutations.


Cancer Prevention, Genetics, and Epidemiology
Session Type and Session Title:
This abstract will not be presented at the 2015 ASCO Annual Meeting but has been published in conjunction with the meeting.
Abstract Number: e12546
J Clin Oncol 33, 2015 (suppl; abstr e12546)
Anita Villani, Ari Shore, Jonathan Wasserman, Harriet Druker, Bailey Gallinger, Ana Novokmet, Uri Tabori, Jonathan L. Finlay, Joshua David Schiffman, David Malkin; The Hospital for Sick Children, Toronto, ON, Canada; The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada; Nationwide Children’s Hospital, Columbus, OH; University of Utah, Salt Lake City, UT