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Background/ObjectiveLi-Fraumeni Syndrome (LFS) is an inherited mutation in TP53 characterized by early onset of various core malignancies including adrenocortical carcinoma (ACC), sarcomas, breast cancer, leukemias, and CNS tumors. We present a case of a patient with LFS who developed endocrine neoplasms not classically seen in LFS in addition to developing ACC.Case ReportA 26-year-old non-binary individual assigned female at birth with a history of LFS complicated by osteosarcoma of the jaw was incidentally found to have thyroid and sellar masses on surveillance MRI. FNA of thyroid mass confirmed papillary thyroid carcinoma (PTC), and patient underwent total thyroidectomy. Pituitary workup was notable for labs consistent with ACTH-dependent hypercortisolism; patient underwent resection of pituitary lesion. Patient was subsequently noted on abdominal imaging to have a new left adrenal mass; they underwent left adrenalectomy with pathology consistent with ACC.DiscussionThere is limited literature on the relationship between LFS and thyroid and pituitary neoplasms. Genetic testing has suggested that TP53 mutations may play a role in tumorigenesis in thyroid and pituitary neoplasms, however most of the current literature is based on evidence of somatic rather than germline mutations.ConclusionThis case highlights a patient with LFS with neoplasia of multiple endocrine organs including ACC, which is a classic finding, as well as PTC and Cushing's disease. Further investigation may be necessary to assess if patients with LFS are at higher risk for various endocrine neoplasms in addition to the core malignancies classically described as this could affect future screening protocols.
Friedman et al. (Thu,) studied this question.