Li-Fraumeni syndrome (LFS) is one of the most penetrant forms of familial cancer susceptibility syndromes, characterized by an early age of tumor onset and a wide spectrum of malignant tumors. Patients with TP53 mutations are predisposed to develop sarcomas, early-onset breast cancer, brain tumors, leukemia, and adrenocortical carcinomas.1,2 The lifetime risk of cancer in these patients is extraordinarily high with 50% of patients having a diagnosis of cancer by the age of 30 and 90% by the age of 50.3 Identifying LFS in patients with cancer is clinically imperative because these patients have an increased sensitivity to ionizing radiation and are more likely to develop radiation-induced secondary malignancies.4–7 This case report describes a young woman whose initial presentation of LFS was early-onset breast cancer and whose subsequent treatment with breast conservation likely resulted in the rapid development of a secondary malignancy arising in her radiation field.
The authors have disclosed that they have no financial interests, arrangements, or affiliations with the manufacturers of any products discussed in this article or their competitors.
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