MEN1 redefined, a clinical comparison of mutation-positive and mutation-negative patients.

ABSTRACT:

Background

Multiple Endocrine Neoplasia type 1 (MEN1) is diagnosed when two out of the three primary MEN1-associated endocrine tumors occur in a patient. Up to 10-30 % of those patients have no mutation in the MEN1 gene. It is unclear if the phenotype and course of the disease of mutation-negative patients is comparable with mutation-positive patients and if these patients have true MEN1. The present study aims to describe and compare the clinical course of MEN1 mutation-negative patients with two out of the three main MEN1 manifestations and mutation-positive patients during long-term follow-up.

Methods

This is a cohort study performed using the Dutch MEN1 database, including > 90 % of the Dutch MEN1 population.

Results

A total of 293 (90.7 %) mutation-positive and 3

SUBMITTER: de Laat JM 

PROVIDER: S-EPMC5109674 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature