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Direct Molecular Diagnosis of Multiple Endocrine Neoplasia Type 1

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Molecular Pathology Protocols

Part of the book series: Methods in Molecular Medicine™ ((MIMM,volume 49))

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Abstract

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant syndrome characterized by the predisposition to develop both peptic ulcer disease and a wide variety of endocrine tumors usually in adolescence and adulthood. Specifically, hyperplasia and/or tumors (most often adenomas) of the parathyroid, pancreatic islet cells, anterior pituitary, and adrenal cortical glands are classically described in affected individuals who have MEN1 (1,2). MEN1 is a highly penetrant disorder whose onset is generally during adult life with the occurrence of at least one, but most often more than one, of the aforementioned tumors. The age-related penetrance of this disorder based on analysis in 63 unrelated kindreds is 7, 52, 87, 98, 99, and 100% by 10, 20, 30, 40, 50, and 60 yr, respectively (3). The disorder is estimated to occur in approx 1 in 30,000 to 1 in 50,000 individuals. Most cases are associated with a positive family history of the disorder, but new germline mutations have been identified in a small percentage of individuals having a negative family history of the disorder but classic features of MEN1 (3–7).

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Authors and Affiliations

  1. Department of Human Genetics, University of Michigan, Ann Arbor, MI

    Elizabeth M. Petty & Michael Glynn

  2. Departments of Human Genetics and Internal Medicine, Yale University, New Haven, CT

    Allen E. Bale

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  1. Elizabeth M. Petty
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  2. Michael Glynn
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  3. Allen E. Bale
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Editors and Affiliations

  1. Department of Pathology, University of Michigan, Ann Arbor, MI

    Anthony A. Killeen MB, BCh, PhD, FFPathRCPI

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Petty, E.M., Glynn, M., Bale, A.E. (2001). Direct Molecular Diagnosis of Multiple Endocrine Neoplasia Type 1. In: Killeen, A.A. (eds) Molecular Pathology Protocols. Methods in Molecular Medicine™, vol 49. Humana Press. https://doi.org/10.1385/1-59259-081-0:227

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  • DOI: https://doi.org/10.1385/1-59259-081-0:227

  • Publisher Name: Humana Press

  • Print ISBN: 978-0-89603-681-9

  • Online ISBN: 978-1-59259-081-0

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