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Pellegata, N.S.

MENX and MEN4.

Clinics 67, 1, 13-18 (2012)
Publ. Version/Full Text Volltext DOI PMC
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Multiple endocrine neoplasias are autosomal dominant disorders characterized by the occurrence of tumors in at least two endocrine glands. Two MEN syndromes have long been known and are well characterized: the MEN type 1 (MEN1) and type 2 (MEN2). These syndromes are caused by germline mutations in the MEN1 and RET genes, respectively, and have a different tumor spectrum. Recently, a variant of the MEN syndromes arose spontaneously in a rat colony and was named MENX. Affected animals consistently develop multiple endocrine tumors, with a spectrum that shares features with both MEN1 and MEN2 human syndromes. Genetic studies identified a germline mutation in the Cdkn1b gene, encoding the p27 cell cycle inhibitor, as the causative mutation for MENX. Capitalizing on these findings, heterozygous germline mutations in the human homologue, CDKN1B, were searched for and identified in patients with multiple endocrine tumors. As a consequence of this discovery, a novel human MEN syndrome, named MEN4, was recognized, which is caused by mutations in p27. Altogether, these studies identified Cdkn1b/CDKN1B as a novel tumor susceptibility gene for multiple endocrine tumors in both rats and humans. Here we review the characteristics of the MENX and MEN4 syndromes and we briefly address the main function of p27 and how they are affected by MENX/4-associated mutations.
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Publication type Article: Journal article
Document type Review
Corresponding Author
Keywords Multiple Endocrine Neoplasias ; Menx ; Men4 ; P27 ; Cdkn1b Gene; MULTIPLE ENDOCRINE NEOPLASIA; CDK INHIBITOR P27; COLORECTAL CARCINOMAS; CELL-MIGRATION; P27(KIP1); MUTATIONS; PHOSPHORYLATION; DEREGULATION; DEGRADATION; PROGRESSION
ISSN (print) / ISBN 1807-5932
e-ISSN 1980-5322
Journal Clinics
Quellenangaben Volume: 67, Issue: , Pages: 13-18, Article Number: , Supplement: 1
Publisher University of Sao Paulo
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Pathology (PATH)