Multiple Endocrine Neoplasia Type 1: Latest Insights

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...

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Bibliographic Details
Published in:	Endocrine reviews 2021-04, Vol.42 (2), p.133-170
Main Authors:	Brandi, Maria Luisa, Agarwal, Sunita K, Perrier, Nancy D, Lines, Kate E, Valk, Gerlof D, Thakker, Rajesh V
Format:	Article
Language:	eng
Subjects:	Adolescent Amino acids Animal models Animals Biology Bone growth Cellular signal transduction Children Chromatin Clinical trials DNA binding proteins Economics Endocrinology Epigenetic inheritance Gastroenterology Genetic aspects Genetic screening Genetic transcription Genetics Germ-Line Mutation Growth factors Humans Medical research Medicine, Experimental Mice Molecular biology Molecular interactions Multiple endocrine neoplasia Multiple Endocrine Neoplasia Type 1 - genetics Multiple Endocrine Neoplasia Type 1 - metabolism Multiple Endocrine Neoplasia Type 1 - pathology Mutation Neuroendocrine tumors Neuroendocrine Tumors - diagnosis Neuroendocrine Tumors - genetics Neuroendocrine Tumors - therapy Nuclear receptors Pathogenesis Patients Pharmacology Proteins Quality of Life Radiology Reviews Signal Transduction Surgery Surgical instruments Transcription factors Transforming growth factor-b Tumors Wnt protein β-Catenin
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Summary:	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. Graphical Abstract Graphical Abstract
ISSN:	0163-769X 1945-7189