Multiple endocrine neoplasia type 1 other diagnostic studies: Difference between revisions
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* [[DNA sequencing]] is the primary method of [[genetic testing]] | * [[DNA sequencing]] is the primary method of [[genetic testing]] | ||
* Haplotype analysis can be performed using specific locus markers flanking the MEN1 region and reaches a degree of confidence when a substantial number of affected members have been analysed.<ref name="pmid17014705">{{cite journal| author=Marini F, Falchetti A, Del Monte F, Carbonell Sala S, Gozzini A, Luzi E et al.| title=Multiple endocrine neoplasia type 1. | journal=Orphanet J Rare Dis | year= 2006 | volume= 1 | issue= | pages= 38 | pmid=17014705 | doi=10.1186/1750-1172-1-38 | pmc=PMC1594566 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17014705 }} </ref> | * Haplotype analysis can be performed using specific locus markers flanking the MEN1 region and reaches a degree of confidence when a substantial number of affected members have been analysed.<ref name="pmid17014705">{{cite journal| author=Marini F, Falchetti A, Del Monte F, Carbonell Sala S, Gozzini A, Luzi E et al.| title=Multiple endocrine neoplasia type 1. | journal=Orphanet J Rare Dis | year= 2006 | volume= 1 | issue= | pages= 38 | pmid=17014705 | doi=10.1186/1750-1172-1-38 | pmc=PMC1594566 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17014705 }} </ref> | ||
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Revision as of 20:58, 8 September 2015
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [2]
Overview
Genetic Testing
- Identifying an MEN1 gene mutation in the proband early in the disease process can allow for early detection and treatment of tumors and earlier identification of at-risk family members.
- Many studies have been performed to determine the prevalence of MEN1 gene mutations among patients with apparently sporadic MEN1-related tumors.
- Genetic testing for mutations in MEN1 is recommended if one of the following conditions is present
- Gastrinoma at any age
- Multifocal duodenopancreatic NETs at any age
- Parathyroid hyperplasia/adenomas before age 30 or 40 years
- Multiglandular parathyroid adenomas/hyperplasia or recurrent primary hyperparathyroidism.
- Presence of one of the three main MEN1 tumors plus one of the less common tumors/findings
- Presence of two or more features (e.g., adrenal adenomas and carcinoid tumor)
- Individuals with isolated parathyroid and/or pituitary tumors are less likely to have an identifiable mutation than those with pancreatic tumors
- DNA sequencing is the primary method of genetic testing
- Haplotype analysis can be performed using specific locus markers flanking the MEN1 region and reaches a degree of confidence when a substantial number of affected members have been analysed.[1]
Reference
- ↑ Marini F, Falchetti A, Del Monte F, Carbonell Sala S, Gozzini A, Luzi E; et al. (2006). "Multiple endocrine neoplasia type 1". Orphanet J Rare Dis. 1: 38. doi:10.1186/1750-1172-1-38. PMC 1594566. PMID 17014705.