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J Pediatr Genet 2016; 05(02): 089-097
DOI: 10.1055/s-0036-1579758
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Multiple Endocrine Neoplasia: A Genetically Diverse Group of Familial Tumor Syndromes

M. Cristina Pacheco
1   Department of Pathology, Microbiology and Immunology, Vanderbilt University, Nashville, Tennessee
› Author Affiliations
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Publication History

31 August 2015

20 October 2015

Publication Date:
09 March 2016 (online)

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Abstract

Multiple endocrine neoplasia (MEN) syndrome is a familial cancer syndrome characterized by neuroendocrine tumors. The syndrome encompasses four major subtypes: MEN1, MEN2A, MEN2B, and MEN4. MEN1 is caused by mutations in the MEN1 gene, MEN2A and MEN2B are caused by mutations in RET, and MEN4 is caused by mutations in CDKNB1. All are inherited in an autosomal dominant pattern, but de novo cases do arise. While all subtypes are associated with neuroendocrine tumors, each has characteristic organ involvement. Identifying patients with the syndrome can aid in proper screening and treatment.

Keywords

multiple endocrine neoplasia - MEN1 - MEN2 - MEN4 - neuroendocrine tumors - familial cancer syndrome
 

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