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MEN4 and CDKN1B mutations: the latest of the MEN syndromes.
Endocr Relat Cancer. 2017 10; 24(10):T195-T208.ER

Abstract

Multiple endocrine neoplasia (MEN) refers to a group of autosomal dominant disorders with generally high penetrance that lead to the development of a wide spectrum of endocrine and non-endocrine manifestations. The most frequent among these conditions is MEN type 1 (MEN1), which is caused by germline heterozygous loss-of-function mutations in the tumor suppressor gene MEN1 MEN1 is characterized by primary hyperparathyroidism (PHPT) and functional or nonfunctional pancreatic neuroendocrine tumors and pituitary adenomas. Approximately 10% of patients with familial or sporadic MEN1-like phenotype do not have MEN1 mutations or deletions. A novel MEN syndrome was discovered, initially in rats (MENX), and later in humans (MEN4), which is caused by germline mutations in the putative tumor suppressor CDKN1B The most common phenotype of the 19 established cases of MEN4 that have been described to date is PHPT followed by pituitary adenomas. Recently, somatic or germline mutations in CDKN1B were also identified in patients with sporadic PHPT, small intestinal neuroendocrine tumors, lymphoma and breast cancer, demonstrating a novel role for CDKN1B as a tumor susceptibility gene for other neoplasms. In this review, we report on the genetic characterization and clinical features of MEN4.

Authors+Show Affiliations

The National Institute of Diabetes and Digestive and Kidney DiseasesNational Institutes of Health, Bethesda, Maryland, USA.Section on Endocrinology & Geneticsthe Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA.Section on Endocrinology & Geneticsthe Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA stratakc@mail.nih.gov.

Pub Type(s)

Journal Article
Review
Research Support, N.I.H., Intramural

Language

eng

PubMed ID

28824003

Citation

Alrezk, Rami, et al. "MEN4 and CDKN1B Mutations: the Latest of the MEN Syndromes." Endocrine-related Cancer, vol. 24, no. 10, 2017, pp. T195-T208.
Alrezk R, Hannah-Shmouni F, Stratakis CA. MEN4 and CDKN1B mutations: the latest of the MEN syndromes. Endocr Relat Cancer. 2017;24(10):T195-T208.
Alrezk, R., Hannah-Shmouni, F., & Stratakis, C. A. (2017). MEN4 and CDKN1B mutations: the latest of the MEN syndromes. Endocrine-related Cancer, 24(10), T195-T208. https://doi.org/10.1530/ERC-17-0243
Alrezk R, Hannah-Shmouni F, Stratakis CA. MEN4 and CDKN1B Mutations: the Latest of the MEN Syndromes. Endocr Relat Cancer. 2017;24(10):T195-T208. PubMed PMID: 28824003.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - MEN4 and CDKN1B mutations: the latest of the MEN syndromes. AU - Alrezk,Rami, AU - Hannah-Shmouni,Fady, AU - Stratakis,Constantine A, Y1 - 2017/08/19/ PY - 2017/08/18/received PY - 2017/08/18/accepted PY - 2017/8/22/pubmed PY - 2018/5/9/medline PY - 2017/8/22/entrez KW - CDKN1B KW - MEN1 KW - MEN4 KW - multiple endocrine neoplasia KW - neuroendocrine tumors KW - p27 SP - T195 EP - T208 JF - Endocrine-related cancer JO - Endocr Relat Cancer VL - 24 IS - 10 N2 - Multiple endocrine neoplasia (MEN) refers to a group of autosomal dominant disorders with generally high penetrance that lead to the development of a wide spectrum of endocrine and non-endocrine manifestations. The most frequent among these conditions is MEN type 1 (MEN1), which is caused by germline heterozygous loss-of-function mutations in the tumor suppressor gene MEN1 MEN1 is characterized by primary hyperparathyroidism (PHPT) and functional or nonfunctional pancreatic neuroendocrine tumors and pituitary adenomas. Approximately 10% of patients with familial or sporadic MEN1-like phenotype do not have MEN1 mutations or deletions. A novel MEN syndrome was discovered, initially in rats (MENX), and later in humans (MEN4), which is caused by germline mutations in the putative tumor suppressor CDKN1B The most common phenotype of the 19 established cases of MEN4 that have been described to date is PHPT followed by pituitary adenomas. Recently, somatic or germline mutations in CDKN1B were also identified in patients with sporadic PHPT, small intestinal neuroendocrine tumors, lymphoma and breast cancer, demonstrating a novel role for CDKN1B as a tumor susceptibility gene for other neoplasms. In this review, we report on the genetic characterization and clinical features of MEN4. SN - 1479-6821 UR - https://www.unboundmedicine.com/medline/citation/28824003/MEN4_and_CDKN1B_mutations:_the_latest_of_the_MEN_syndromes_ L2 - https://erc.bioscientifica.com/doi/10.1530/ERC-17-0243 DB - PRIME DP - Unbound Medicine ER -