Multiple Endocrine Neoplasia: Genetics and Clinical Management

Surg Oncol Clin N Am. 2015 Oct;24(4):795-832. doi: 10.1016/j.soc.2015.06.008. Epub 2015 Jul 27.

Abstract

Early diagnosis of multiple endocrine neoplasia (MEN) syndromes is critical for optimal clinical outcomes; before the MEN syndromes can be diagnosed, they must be suspected. Genetic testing for germline alterations in both the MEN type 1 (MEN1) gene and RET proto-oncogene is crucial to identifying those at risk in affected kindreds and directing timely surveillance and surgical therapy to those at greatest risk of potentially life-threatening neoplasia. Pancreatic, thymic, and bronchial neuroendocrine tumors are the leading cause of death in patients with MEN1 and should be aggressively considered by at least biannual computed tomography imaging.

Keywords: Clinical management; Endocrine neoplasia; Genetics; Multiple endocrine neoplasia.

Publication types

  • Review

MeSH terms

  • Disease Management
  • Genetic Predisposition to Disease*
  • Genetic Testing*
  • Humans
  • Multiple Endocrine Neoplasia / diagnosis*
  • Multiple Endocrine Neoplasia / genetics*
  • Risk Assessment