A Case of Li-Fraumeni Associated Thymoma

Thymomas are among the most common cancers of the anterior mediastinum. They rarely occur in patients with Li-Fraumeni syndrome (LFS), a hereditary syndrome that predisposes individuals to cancer and is characterized by mutations in the tumor suppressor encoding gene TP53. Here we describe a case of primary thymoma in a woman diagnosed with LFS. We cover the initial presentation and diagnosis, radiological findings, histopathological examination, and management of thymoma. In addition, we review p53 physiology and LFS pathophysiology to explore how TP53 expression might differ between the majority of thymomas and in thymomas associated with LFS. This altered pathophysiology may affect management and prognosis due to emerging evidence of increased resistance to conventional treatment, which suggests a need for close monitoring and consideration of novel treatment strategies such as programmed death-ligand 1 (PD-L1) inhibitors.