What is New in Multiple Endocrine Neoplasia Type 2?

Multiple endocrine neoplasias (MENs) are rare inherited endocrine tumor syndromes that occur due to an underlying constitutional RET mutation. After the phenotypic description in 1903 by Erdheim, Wermer described cases of endocrine gland tumors from the same family and proposed a genetic basis for the syndrome. The term MEN was coined by Steiner in 1968. Later, in 1990s MEN type 1 (MEN 1) and MEN type 2 (MEN 2) were described. Currently, MEN syndromes are defined as MEN 1, MEN 2A, MEN 2B, MEN 4, and MEN 5. Recent years have witnessed several advancements in genetic characteristics and associated clinical features of MEN 2 syndromes. The aim of this review is to summarize current information, novel genotype–phenotype associations, and future recommendations about MEN 2.

Cite this article as: Çakır M. What is new in multiple endocrine neoplasia type 2? Endocrinol Res Pract. 2025;29(1):59-68.