Overview of Genetically Determined Diseases/Multiple Endocrine Neoplasia Syndromes Predisposing to Endocrine Tumors

Abstract

In this chapter, we present an overview of multiple endocrine neoplasia syndromes including their most important clinical and molecular features. Multiple endocrine neoplasia type 1 and 2 syndromes (MEN1 and MEN2) are discussed in detail. Syndromes that are presented in other chapters are only briefly mentioned. We discuss the relevance of germline gene alterations in apparently sporadic endocrine tumors, e.g., medullary thyroid cancer, primary hyperparathyroidism, and neuroendocrine tumors. McCune-Albright syndrome that only exists in non-hereditary, sporadic forms is also discussed in detail, as tumors of several endocrine organs can develop in the same individual.