Abstract 1383: Li-Fraumeni syndrome: Clinical experience with family psycho-social issues.
Authors: Peters June A. , Hoskins Lindsey M. , Mai Phuong L. , Walcott Farzana , Bremer Renee , Savage Sharon A. 
Published: August 2014

Abstract
Introduction: Li-Fraumeni Syndrome (LFS) is a hereditary cancer predisposition syndrome causing a range of cancers across the lifespan. About 70% of families meeting classical LFS criteria have detectable germline mutations in the TP53 gene, vs 40% of those classified as Li-Fraumeni-like (LFL). The psychological, social, and behavioral issues faced by individuals with LFS/LFL and their relatives comprise an important, but under-studied, topic.
Methods: Ours is a prospective, cohort study of LFS/LFL. Enrollees are invited to participate in epidemiologic and lifestyle questionnaires, clinical evaluations, genetic counseling and testing if indicated, molecular research, cancer screening and psychosocial assessments, and, of adults, standardized, self-report, psychological assessments. Those attending clinic also have in-person interview and social assessments. Results: Two of the first five families we saw illustrate a wide range of psychosocial issues, which emerged during the social assessment and family interview.Family 1 included two adolescents with histories of osteosarcoma, and their unaffected father. Their biological mother had died a decade earlier from a different type of cancer and their father had remarried. The adolescent female proband was struggling with internal conflict, overwhelmed with trying to balance pleasing her family with the developmentally appropriate task of gaining independence. The younger male proband focused on short-term goals, seemingly finding the cancer risk personally irrelevant. The father worried about raising his children in a highly secular environment, and about how to manage their medical needs.
The proband of Family 2 is a 37-year-old woman who had already survived 4 primary cancers, seen with her 2 unaffected, mutation-positive children and her mother. She was divorced from the children's father and raised them as a single mom for several years with the help of her mother until re-marrying. Pertinent psychosocial issues included an emotional and practical cut-off between the biological parents, resulting in the mother's struggle to manage her children's healthcare needs and communicate with them about their risk independent of their father, who preferred not to be involved in the medical system. Additionally, the mother's strong sense of independence created a communication barrier between her and her own mother, who felt shut out of her daughter's emotional experience despite wanting to provide support.
Conclusions: There is great breadth of needs in families with LFS/LFL. Understanding the psychological, social, and behavioral issues as they are manifest in the context of LFS will help guide our efforts aimed at alleviating the psychosocial morbidity associated with this syndrome. We recommend that families receive ongoing psychosocial evaluation as an integral part of their medical management, preferable by multi-disciplinary teams.
Citation Format: June A. Peters, Lindsey M. Hoskins, Phuong L. Mai, Farzana Walcott, Renee Bremer, Sharon A. Savage. Li-Fraumeni syndrome: Clinical experience with family psycho-social issues. [abstract]. In: Proceedings of the 104th Annual Meeting of the American Association for Cancer Research; 2013 Apr 6-10; Washington, DC. Philadelphia (PA): AACR; Cancer Res 2013;73(8 Suppl):Abstract nr 1383. doi:10.1158/1538-7445.AM2013-1383