Multiple Endocrine Neoplasia: Genetics and Clinical Management

Jeffrey A Norton; Geoffrey Krampitz; Robert T Jensen

doi:10.1016/j.soc.2015.06.008

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.

Authors

Jeffrey A Norton¹, Geoffrey Krampitz², Robert T Jensen³

Affiliations

¹ Department of Surgery, Stanford University School of Medicine, 300 Pasteur Drive, Stanford, CA 94305, USA. Electronic address: janorton@stanford.edu.
² Department of Surgery, Stanford University School of Medicine, 300 Pasteur Drive, Stanford, CA 94305, USA.
³ Cell Biology Section, Digestive Diseases Branch, National Institute of Arthritis, Diabetes, Digestive and Kidney Disease, National Institutes of Health, Bethesda, MD 20892-2560, USA.

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*
Proto-Oncogene Mas
Risk Assessment

Grants and funding

R01 CA096645/CA/NCI NIH HHS/United States