Multiple Endocrine Neoplasia Type 1: Latest Insights

Author:

Brandi Maria Luisa1ORCID,Agarwal Sunita K2,Perrier Nancy D3,Lines Kate E4,Valk Gerlof D5,Thakker Rajesh V4

Affiliation:

1. University of Florence, Florence, Italy

2. National Institutes of Health, Bethesda, MD, USA

3. The University of Texas MD Anderson Cancer Center, Houston, TX, USA

4. University of Oxford, Oxford, UK

5. University Medical Center Utrecht, CX Utrecht, the Netherlands

Abstract

Abstract Multiple endocrine neoplasia type 1 (MEN1), a rare tumor syndrome that is inherited in an autosomal dominant pattern, is continuing to raise great interest for endocrinology, gastroenterology, surgery, radiology, genetics, and molecular biology specialists. There have been 2 major clinical practice guidance papers published in the past 2 decades, with the most recent published 8 years ago. Since then, several new insights on the basic biology and clinical features of MEN1 have appeared in the literature, and those data are discussed in this review. The genetic and molecular interactions of the MEN1-encoded protein menin with transcription factors and chromatin-modifying proteins in cell signaling pathways mediated by transforming growth factor β/bone morphogenetic protein, a few nuclear receptors, Wnt/β-catenin, and Hedgehog, and preclinical studies in mouse models have facilitated the understanding of the pathogenesis of MEN1-associated tumors and potential pharmacological interventions. The advancements in genetic diagnosis have offered a chance to recognize MEN1-related conditions in germline MEN1 mutation–negative patients. There is rapidly accumulating knowledge about clinical presentation in children, adolescents, and pregnancy that is translatable into the management of these very fragile patients. The discoveries about the genetic and molecular signatures of sporadic neuroendocrine tumors support the development of clinical trials with novel targeted therapies, along with advancements in diagnostic tools and surgical approaches. Finally, quality of life studies in patients affected by MEN1 and related conditions represent an effort necessary to develop a pharmacoeconomic interpretation of the problem. Because advances are being made both broadly and in focused areas, this timely review presents and discusses those studies collectively.

Funder

National Institutes of Health

National Institute of Diabetes and Digestive and Kidney Diseases

Wellcome Trust

National Institute for Health Research

NIHR Oxford Biomedical Research Centre

Publisher

The Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

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