MEN1 in a Patient With Nonsyndromic Familial Nonmedullary Thyroid Carcinoma

• Published in: JCEM case reports Vol. 1; no. 1; p. luac019
• Main Authors: Fitzgerald, Lauren A, Williamson, Shelley, Shakil, Jawairia, Robbins, Richard J
• Format: Report
• Language: English
• Published: 01-01-2023
• DOI: 10.1210/jcemcr/luac019
• EISSN: 2755-1520

Clinical syndromes involving multiple endocrine glands have been well recognized for over a century. Multiple reports describing hereditary multiple endocrine neoplasia (MEN) syndromes involving pituitary, parathyroid, and pancreatic neuroendocrine tumors have been published. Differentiated (nonmedullary) thyroid cancer can also present as a hereditary syndrome with or without a specific genetic predisposition. We report the case of a man with nonsyndromic familial nonmedullary thyroid carcinoma, a pituitary adenoma, hyperparathyroidism, an adrenal adenoma, and pancreatic adenocarcinoma. Genetic testing did not reveal mutations in the commonly reported genes associated with MEN syndromes. MEN1 is characterized by endocrine neoplasia in at least 2 of the following glands: pituitary, parathyroid, and the gastro-entero-pancreatic (GEP) tract. Co-occurrence of MEN1 with familial nonmedullary thyroid carcinoma, however, has not been reported in the medical literature. This unique case of MEN1 co-existing in a patient with nonsyndromic familial thyroid carcinoma was not associated with any common MEN syndrome germline mutations.