A 40-year-old woman with a family history consistent with Li-Fraumeni syndrome is found to have a germline TP53 mutation. Which tumor is most characteristically associated with this syndrome?

• A Medullary thyroid carcinoma
• B Paraganglioma
• C Pheochromocytoma
• D Adrenocortical carcinoma ✓

Explanation

Li-Fraumeni syndrome, caused by germline TP53 mutations, predisposes to a wide range of tumors including breast cancer, soft tissue sarcomas, brain tumors, and adrenocortical carcinoma. Adrenocortical carcinoma is particularly characteristic and is a hallmark of this syndrome, especially in children. Medullary thyroid carcinoma, pheochromocytoma, and paraganglioma are associated with MEN2.

Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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