Multiple Endocrine Neoplasia Syndromes

Paul J. Newey, Rajesh V. Thakker

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Multiple endocrine neoplasia (MEN) is characterized by the occurrence of tumors involving two or more endocrine glands within a single patient. Four major forms of MEN are recognized and referred to as MEN types 1-4, and each form is characterized by the development of tumors within specific endocrine tissues. Each form of MEN is typically inherited as an autosomal dominant syndrome but may occur sporadically; that is, without a family history, although this distinction between sporadic and familial cases may sometimes be challenging. In addition to MEN1-4, six other syndromes which are associated with multiple endocrine and other organ neoplasias (MEONs) are recognized. These include the hyperparathyroidism-jaw tumor (HPT-JT) syndrome, Von Hippel-Lindau disease, Carney complex (CNC), Neurofibromatosis type 1 (NF1), Cowden syndrome (CWD), and McCune-Albright syndrome. Each of these are typically inherited as autosomal dominant disorders, with the exception of McCune-Albright syndrome which is due to a mosaic expression of a postzygotic somatic GNAS mutation. Each MEN and MEONs syndrome is associated with skeletal disease that include osteoporosis, scoliosis, pseudoarthroses, long bone and spinal dysplasias, ossifying tumors, osteochondromyxomas, as well as metastatic involvement.

Original languageEnglish
Title of host publicationGenetics of Bone Biology and Skeletal Disease
EditorsRajesh V. Thakker, Michael P. Whyte, John Eishman, Takashi Igarashi
Place of PublicationUnited Kingdom
PublisherAcademic Press
Pages699-732
Number of pages34
Edition2
ISBN (Electronic)9780128041987
ISBN (Print)9780128041826
DOIs
Publication statusPublished - 2018

Keywords

  • Endocrine glands
  • GNAS mutation
  • McCune-Albright syndrome
  • MEN
  • Multiple endocrine neoplasia
  • Osteoporosis

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  • Cite this

    Newey, P. J., & Thakker, R. V. (2018). Multiple Endocrine Neoplasia Syndromes. In R. V. Thakker, M. P. Whyte, J. Eishman, & T. Igarashi (Eds.), Genetics of Bone Biology and Skeletal Disease (2 ed., pp. 699-732). Academic Press. https://doi.org/10.1016/B978-0-12-804182-6.00038-1