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Endocrine Abstracts (2016) 44 S12.1 | DOI: 10.1530/endoabs.44.S12.1

University of Dundee, Dundee, UK.


Multiple Endocrine Neoplasia type 1 (MEN1) is a highly penetrant autosomal dominant disorder characterized by the combined occurrence of parathyroid, anterior pituitary and pancreatic islet tumours. Affected individuals are also at risk from a wider spectrum of tumours, which includes thymic and bronchial carcinoids, and adrenal cortical tumours. MEN1 results from germline mutation of the MEN1 gene, which encodes the tumour suppressor protein Menin. The absence of a genotype-phenotype correlation results in the recommendation for lifelong screening, although despite this, MEN1-associated tumours continue to be associated with significant morbidity and premature mortality. In addition, the unpredictable course of disease results in considerable uncertainty for affected individuals and their families. The treatment strategies for MEN1-associated tumours are typically based on those employed for their sporadic counterparts, namely that of intervention once observable disease has occurred. Key differences in disease natural history, including a frequent early age of onset, tumour multi-focality, and an increased risk of further tumour development, indicates that improved approaches are required. However, the development of MEN1-specific treatments requires an improved understanding of disease pathogenesis, as well as the availability of relevant model systems in which to evaluate their use. Addressing this challenge, several recent studies have provided an improved understanding of the mechanisms responsible for MEN1-associated tumourigenesis as well as fundamental insights into Menin protein function. Together, these studies indicate that Menin is implicated in widespread epigenetic regulation, whilst influencing several key cellular signaling pathways in a cell context dependent fashion. Similarly, murine models of MEN1 have enabled proof-of-concept studies to evaluate novel therapeutic approaches.

This talk will review recent progress in defining the natural history of MEN1 as well as highlighting advances in both clinical and molecular aspects of the disease with a particular focus on current and future therapeutic prospects.

Volume 44

Society for Endocrinology BES 2016

Brighton, UK
07 Nov 2016 - 09 Nov 2016

Society for Endocrinology 

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