A Patient with MEN1 Typical Features and MEN2-like Features

Overview

Journal Int J Endocr Oncol

Date 2016 Sep 6

PMID 27594983

Citations 6

Authors

Diala El-Maouche

James Welch

Sunita K Agarwal

Lee S Weinstein

William F Simonds

Stephen J Marx

Affiliations

Soon will be listed here.

Abstract

Multiple endocrine neoplasia (MEN) type 1 (MEN1) and 2 (MEN2) rarely co-exist in one case. Here we report a patient with features of both syndromes. The patient presented with typical MEN1 features plus pheochromocytoma and thickened corneal nerves. She had a germline 1132delG frameshift mutation in , no mutation in () and no mutation, but had both polymorphisms Gly691Ser and Arg982Cys. This is the first case report of a combination of typical clinical findings of MEN1 harboring a germline mutation and the MEN2-like phenotype with negative full gene analysis of pathogenic variants. Possible explanations include a previously unrecognized phenotype-genotype association or the influence of potential phenotypic modifying variants. Furthermore, the combination observed in this patient may point to a single molecular pathway, and supports the possibility of as yet unrecognized connections between the molecular pathways for MEN1/menin protein and MEN2/RET protein.

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