Clinical studies of multiple endocrine neoplasia type 1 (MEN1)

TLDR

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder marked by the concurrent development of parathyroid, pancreatic islet, and anterior pituitary tumors. The study aimed to facilitate a MEN1 screening programme by investigating 709 individuals from 62 families and 36 unrelated patients. Among 709 participants, 220 (95 males, 125 females) were diagnosed with MEN1, with parathyroid, pancreatic, and pituitary tumors occurring in 95 %, 41 %, and 30 % of cases, respectively; parathyroid lesions were the first manifestation in 87 % of patients, and penetrance reached 94 % by age 50, supporting a screening programme based on family history.

Abstract

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by the combined occurrence of parathyroid, pancreatic islet and anterior pituitary tumours. To facilitate a screening programme for MEN1, we investigated 709 people (364 males and 345 females, age range 1–84 years) from 62 MEN1 families, and 36 non-familial MEN1 patients. Of those investigated, 220 (95 males and 125 females, age range 8–79 years) suffered from MEN1. Parathyroid, pancreatic and pituitary tumours occurred in 95%, 41% and 30% of the patients, respectively. Parathyroid tumours were the first manifestation of MEN1 in 87% of patients, and amongst the pituitary and pancreatic tumours, somatotrophinomas and gastrinomas were more common in patients above the age of 40 years, whilst insulinomas occurred more frequently in patients below the age of 40 years. Biochemical screening indicated that the penetrance of MEN1 by the ages of 20, 35 and 50 years was 43%, 85% and 94%, respectively, and that the development of MEN1 was confined to first-degree relatives in 91% of patients and to second-degree relatives in 9% of patients. These findings have helped to define a proposed screening programme for MEN1.