Genetic endocrine tumors focusing on the thyroid.

Abstract

Heritable thyroid tumors represent a clinically important subset of endocrine neoplasms, accounting for approximately 3-9% of well-differentiated thyroid cancers and 25% of medullary thyroid cancers. In patients presenting with a new thyroid malignancy, recognition of an underlying hereditary cancer predisposition syndrome has important implications for management, surveillance for associated malignancies, and testing of at-risk relatives. This review summarizes the epidemiology, clinical presentation, histopathologic features, management, and surveillance recommendations for hereditary thyroid tumors in the setting of familial non-medullary thyroid cancer, multiple endocrine neoplasia type 2, familial adenomatous polyposis, Cowden syndrome, Li-Fraumeni syndrome, DICER1 syndrome, CHEK2-related cancer predisposition, and Carney complex. In the future, continued research is needed to better understand genotype-phenotype correlations, optimize surveillance strategies, and improve risk stratification to enable more personalized care for patients and families affected by these conditions.