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Multiple endocrine neoplasia syndromes associated with mutation of p27.
J Endocrinol Invest. 2013 Oct; 36(9):781-7.JE

Abstract

Multiple endocrine neoplasias (MEN) are autosomal dominant disorders characterized by the occurrence of tumors in at least two endocrine glands. Until recently, two MEN syndromes were known, i.e. the MEN type 1 (MEN1) and type 2 (MEN2), which are caused by germline mutations in the MEN1 and RET genes, respectively. These two syndromes are characterized by a different tumor spectrum. A few years ago we described a variant of the MEN syndromes, which spontaneously developed 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, 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 heterozygous mutations in p27. 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 it is affected by MENX- or MEN4-associated mutations.

Authors+Show Affiliations

Institute of Pathology, Helmholtz Zentrum München-German Research Center for Environmental Health, Ingolstaedter Landstrasse 1, 85764 Neuherberg, Germany.No affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

23800691

Citation

Lee, M, and N S. Pellegata. "Multiple Endocrine Neoplasia Syndromes Associated With Mutation of P27." Journal of Endocrinological Investigation, vol. 36, no. 9, 2013, pp. 781-7.
Lee M, Pellegata NS. Multiple endocrine neoplasia syndromes associated with mutation of p27. J Endocrinol Invest. 2013;36(9):781-7.
Lee, M., & Pellegata, N. S. (2013). Multiple endocrine neoplasia syndromes associated with mutation of p27. Journal of Endocrinological Investigation, 36(9), 781-7. https://doi.org/10.3275/9021
Lee M, Pellegata NS. Multiple Endocrine Neoplasia Syndromes Associated With Mutation of P27. J Endocrinol Invest. 2013;36(9):781-7. PubMed PMID: 23800691.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Multiple endocrine neoplasia syndromes associated with mutation of p27. AU - Lee,M, AU - Pellegata,N S, Y1 - 2013/06/26/ PY - 2013/6/27/entrez PY - 2013/6/27/pubmed PY - 2014/7/7/medline SP - 781 EP - 7 JF - Journal of endocrinological investigation JO - J Endocrinol Invest VL - 36 IS - 9 N2 - Multiple endocrine neoplasias (MEN) are autosomal dominant disorders characterized by the occurrence of tumors in at least two endocrine glands. Until recently, two MEN syndromes were known, i.e. the MEN type 1 (MEN1) and type 2 (MEN2), which are caused by germline mutations in the MEN1 and RET genes, respectively. These two syndromes are characterized by a different tumor spectrum. A few years ago we described a variant of the MEN syndromes, which spontaneously developed 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, 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 heterozygous mutations in p27. 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 it is affected by MENX- or MEN4-associated mutations. SN - 1720-8386 UR - https://www.unboundmedicine.com/medline/citation/23800691/Multiple_endocrine_neoplasia_syndromes_associated_with_mutation_of_p27_ L2 - https://link.springer.com/article/10.3275/9021 DB - PRIME DP - Unbound Medicine ER -