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Multiple endocrine neoplasia type 1: clinical and genetic topics.
Ann Intern Med. 1998 Sep 15; 129(6):484-94.AIM

Abstract

Multiple endocrine neoplasia type 1 (MEN1) consists of benign, and sometimes malignant, tumors (often multiple in a tissue) of the parathyroids, enteropancreatic neuroendocrine system, anterior pituitary, and other tissues. Skin angiofibromas and skin collagenomas are common. Typically, MEN1 tumors begin two decades earlier than sporadic tumors. Because of tumor multiplicity and the tendency for postoperative tumor recurrence, specialized methods have been developed for preoperative and intraoperative localization of many MEN1-associated tumors. The MEN1 gene was recently isolated by positional cloning. This strategy progressively narrows the size of the candidate MEN1 gene interval on the chromosome and then finds and tests many or, if needed, all genes within that interval. The MEN1 gene was finally identified because it was the one gene that contained mutations in most DNAs from a test panel of MEN1 cases. It has been suggested that MEN1, like many hereditary cancer syndromes, is caused by mutation in a tumor suppressor gene that contributes to neoplasia when both gene copies in a tumor precursor cell have been sequentially inactivated ("two-hit" oncogenesis mechanism). Germline MEN1 mutations were found in most families with MEN1 and in most cases of sporadic MEN1. In addition, the MEN1 gene was the gene most likely to show acquired mutation in several sporadic or nonhereditary tumors-parathyroid adenomas, gastrinomas, insulinomas, and bronchial carcinoids. Most germline or acquired MEN1 mutations predicted truncation (and thus likely inactivation) of the encoded protein, supporting expectations for the "first hit" to a tumor suppressor gene. Testing for MEN1 germline mutation is possible in a research setting. Candidates for MEN1 mutation testing include patients with MEN1 or its phenocopies and first-degree relatives of persons with MEN1.

Authors+Show Affiliations

National Institutes of Health, Bethesda, MD 20892, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Consensus Development Conference
Consensus Development Conference, NIH
Journal Article
Review

Language

eng

PubMed ID

9735087

Citation

Marx, S, et al. "Multiple Endocrine Neoplasia Type 1: Clinical and Genetic Topics." Annals of Internal Medicine, vol. 129, no. 6, 1998, pp. 484-94.
Marx S, Spiegel AM, Skarulis MC, et al. Multiple endocrine neoplasia type 1: clinical and genetic topics. Ann Intern Med. 1998;129(6):484-94.
Marx, S., Spiegel, A. M., Skarulis, M. C., Doppman, J. L., Collins, F. S., & Liotta, L. A. (1998). Multiple endocrine neoplasia type 1: clinical and genetic topics. Annals of Internal Medicine, 129(6), 484-94.
Marx S, et al. Multiple Endocrine Neoplasia Type 1: Clinical and Genetic Topics. Ann Intern Med. 1998 Sep 15;129(6):484-94. PubMed PMID: 9735087.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Multiple endocrine neoplasia type 1: clinical and genetic topics. AU - Marx,S, AU - Spiegel,A M, AU - Skarulis,M C, AU - Doppman,J L, AU - Collins,F S, AU - Liotta,L A, PY - 1998/9/12/pubmed PY - 1998/9/12/medline PY - 1998/9/12/entrez SP - 484 EP - 94 JF - Annals of internal medicine JO - Ann Intern Med VL - 129 IS - 6 N2 - Multiple endocrine neoplasia type 1 (MEN1) consists of benign, and sometimes malignant, tumors (often multiple in a tissue) of the parathyroids, enteropancreatic neuroendocrine system, anterior pituitary, and other tissues. Skin angiofibromas and skin collagenomas are common. Typically, MEN1 tumors begin two decades earlier than sporadic tumors. Because of tumor multiplicity and the tendency for postoperative tumor recurrence, specialized methods have been developed for preoperative and intraoperative localization of many MEN1-associated tumors. The MEN1 gene was recently isolated by positional cloning. This strategy progressively narrows the size of the candidate MEN1 gene interval on the chromosome and then finds and tests many or, if needed, all genes within that interval. The MEN1 gene was finally identified because it was the one gene that contained mutations in most DNAs from a test panel of MEN1 cases. It has been suggested that MEN1, like many hereditary cancer syndromes, is caused by mutation in a tumor suppressor gene that contributes to neoplasia when both gene copies in a tumor precursor cell have been sequentially inactivated ("two-hit" oncogenesis mechanism). Germline MEN1 mutations were found in most families with MEN1 and in most cases of sporadic MEN1. In addition, the MEN1 gene was the gene most likely to show acquired mutation in several sporadic or nonhereditary tumors-parathyroid adenomas, gastrinomas, insulinomas, and bronchial carcinoids. Most germline or acquired MEN1 mutations predicted truncation (and thus likely inactivation) of the encoded protein, supporting expectations for the "first hit" to a tumor suppressor gene. Testing for MEN1 germline mutation is possible in a research setting. Candidates for MEN1 mutation testing include patients with MEN1 or its phenocopies and first-degree relatives of persons with MEN1. SN - 0003-4819 UR - https://www.unboundmedicine.com/medline/citation/9735087/Multiple_endocrine_neoplasia_type_1:_clinical_and_genetic_topics_ L2 - https://www.acpjournals.org/doi/10.7326/0003-4819-129-6-199809150-00011?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -