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.
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