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Multiple Endocrine Neoplasia Type 2

  • Chapter
Principles of Molecular Medicine

Abstract

Multiple endocrine neoplasia is a genetic endocrine tumor syndrome characterized by the presence of medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism. There are two major variants. Multiple endocrine neoplasia (MEN) type 2A or Sipple syndrome has three clinical features: MTC, pheochromocytoma, and hyperparathyroidism; MEN2B has a different phenotype: MTC, pheochromocytoma, mucosal neuromas distributed throughout the mouth and gastrointestinal tract, and Marfanoid features including long thin arms and legs, an altered upper/lower body ratio, and pectus abnormalities. These clinical syndromes are caused by specific activating mutations of the RET tyrosine kinase receptor, important in neurological development of the gastrointestinal tract. MEN2 is one of a handful of genetic syndromes where the identification of a mutation leads to a specific action. Children with germline activating mutations of RET are treated in early childhood with a total thyroidectomy to prevent the development of metastatic MTC.

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Author information

Authors and Affiliations

  1. Division of Internal Medicine, University of Texas M.D. Anderson Cancer Center, Houston, TX

    Robert F. Gagel

  2. Department of Otolaryngology, University of Florida, Gainesville, FL

    Sarah Shefelbine & Hironori Hayashi

  3. Department of Endocrine Neoplasia and Hormonal Disorders, University of Texas M.D. Anderson Cancer Center, Houston, TX

    Gilbert Cote

Authors
  1. Robert F. Gagel
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  2. Sarah Shefelbine
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  3. Hironori Hayashi
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  4. Gilbert Cote
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Editor information

Editors and Affiliations

  1. Department of Medicine, Division of Cardiology Carolina Cardiovascular Biology Center, University of North Carolina School of Medicine, Chapel Hill, NC

    Marschall S. Runge MD, PhD  & Cam Patterson MD  & 

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© 2006 Humana Press Inc.

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Gagel, R.F., Shefelbine, S., Hayashi, H., Cote, G. (2006). Multiple Endocrine Neoplasia Type 2. In: Runge, M.S., Patterson, C. (eds) Principles of Molecular Medicine. Humana Press. https://doi.org/10.1007/978-1-59259-963-9_40

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  • DOI: https://doi.org/10.1007/978-1-59259-963-9_40

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-58829-202-5

  • Online ISBN: 978-1-59259-963-9

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