Genetic endocrine tumors focusing on the thyroid.

Authors

Sara P Ginzberg, Jennine H D Weller, Catherine M Skefos, Nancy D Perrier

Published in

Best practice & research. Clinical endocrinology & metabolism. Pages 102158. Aug 16, 2026. Epub Aug 16, 2026.

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.

PMID:
42632770
Bibliographic data and abstract were imported from PubMed on 23 Aug 2026.

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