Li-Fraumeni Syndrome: Adopting a Diagnosis with an Unknown Family History

Abstract

Introduction: Li-Fraumeni Syndrome (LFS) is a rare, autosomal dominant disease that is typically screenedfor and identified in patients with a known history of cancer and family history ofcancer.Presentation of Case: Ms. DA is an adopted 39-year-old South American female with a past medical history of iron deficiency anemia, celiac disease, and polio. She presented with ductal carcinoma in-situ with spindle cell atypia at age 35 and leiomyosarcoma of the ankle at age 36. Genetic counseling was offered due to her age and cancer types, with subsequent genetic testing revealing a TP53-R337H mutation, which was diagnostic of LFS. Given her high risk status, extensive cancer screenings at common LFS body sites were recommended, but she was lost to follow-up. Four years later, she returned after discovering a new right breast mass on self-examination. She was referred to a new breast surgeon, who was able to establish consistent and close follow-up while providing counseling and education regarding lifetime risk and cancer trajectory of classical LFS compared to the Brazilian LFS-subtype.Conclusion: The importance of having a high level of suspicion for patients with anunknown family history is crucial as seen in this case. Without a biological familyhistory, clinicians rely on their judgement to decide when further work-up is warranted.Advancements in medicine and genetic testing have increased the ability to accuratelydiagnose genetic diseases to help patients make life-saving decisions about theirhealth