Molecular pathology of endocrine gland tumors: genetic alterations and clinicopathologic relevance

Tumors of the endocrine glands are common. Knowledge of their molecular pathology has greatly advanced in the recent past. This review covers the main molecular alterations of tumors of the anterior pituitary, thyroid and parathyroid glands, adrenal cortex, and adrenal medulla and paraganglia. All endocrine gland tumors enjoy a robust correlation between genotype and phenotype. High-throughput molecular analysis demonstrates that endocrine gland tumors can be grouped into molecular groups that are relevant from both pathologic and clinical point of views. In this review, genetic alterations have been discussed and tabulated with respect to their molecular pathogenetic role and clinicopathologic implications, addressing the use of molecular biomarkers for the purpose of diagnosis and prognosis and predicting response to molecular therapy. Hereditary conditions that play a key role in determining predisposition to many types of endocrine tumors are also discussed.

Automated summary

This review discusses the main molecular alterations of tumors in endocrine glands such as the anterior pituitary, thyroid and parathyroid glands, adrenal cortex, and adrenal medulla and paraganglia. It examines the correlation between genotype and phenotype in endocrine gland tumors and how high-throughput molecular analysis can group them into relevant molecular groups for pathologic and clinical purposes. The review also addresses the use of genetic alterations as molecular biomarkers for diagnosis, prognosis, and predicting response to molecular therapy, as well as the role of hereditary conditions in predisposition to endocrine tumors.