Multiple endocrine neoplasia type 1 other diagnostic studies: Difference between revisions
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Other diagnostic studies for multiple endocrine neoplasia type 1 include [[genetic testing]], which demonstrates [[gene mutation]] in [[proband]]. | Other diagnostic studies for multiple endocrine neoplasia type 1 include [[genetic testing]], which demonstrates [[gene mutation]] in [[proband]]. | ||
==Genetic Testing== | ==Genetic Testing== | ||
* Identifying a MEN1 [[gene mutation]] in the [[proband]] early in the [[disease]] process can allow for early detection and treatment of [[tumor]]s and earlier identification of at-risk | * Identifying a MEN1 [[gene mutation]] in the [[proband]] early in the [[disease]] process can allow for early detection and treatment of [[tumor]]s and earlier identification of at-risk family members. | ||
* Many studies have been performed to determine the [[prevalence]] of MEN1 [[gene mutation]]s among patients with apparently sporadic multiple endocrine neoplasia type 1-related [[tumor]]s. | * Many studies have been performed to determine the [[prevalence]] of MEN1 [[gene mutation]]s among patients with apparently sporadic multiple endocrine neoplasia type 1-related [[tumor]]s. | ||
* Genetic testing for [[mutation]]s in MEN1 is recommended if one of the following conditions is present | * Genetic testing for [[mutation]]s in MEN1 is recommended if one of the following conditions is present | ||
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:* Individuals with isolated [[parathyroid]] and/or [[pituitary tumor]]s are less likely to have an identifiable [[mutation]] than those with [[pancreatic tumor]]s | :* Individuals with isolated [[parathyroid]] and/or [[pituitary tumor]]s are less likely to have an identifiable [[mutation]] than those with [[pancreatic tumor]]s | ||
* [[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> | ||
* Molecular genetic testing is used for predictive testing and prenatal [[diagnosis]]. | * Molecular genetic testing is used for predictive testing and prenatal [[diagnosis]]. | ||
* Sequence analysis detects sequence alterations upto 70-90% familial [[mutation]] and 65% simplex [[mutation]]. | * Sequence analysis detects sequence alterations upto 70-90% familial [[mutation]] and 65% simplex [[mutation]]. | ||
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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
Other diagnostic studies for multiple endocrine neoplasia type 1 include genetic testing, which demonstrates gene mutation in proband.
Genetic Testing
- Identifying a 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 multiple endocrine neoplasia type 1-related tumors.
- Genetic testing for mutations in MEN1 is recommended if one of the following conditions is present
- Gastrinoma at any age
- Multifocal duodenopancreatic neuroendocrine tumors 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 multiple endocrine neoplasia type 1 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]
- Molecular genetic testing is used for predictive testing and prenatal diagnosis.
- Sequence analysis detects sequence alterations upto 70-90% familial mutation and 65% simplex mutation.
- Deletion testing detects MEN duplication or deletion upto 1-3% of the mutation.
Genetic Counselling
- It is an autosomal dominant disorder.
- Child of an individual to multiple endocrine neoplasia type 1 syndrome has 50% chance of inheritance.
- Siblings of an individual affected by multiple endocrine neoplasia type 1 syndrome have 50% chance of inheritance.
- If the germline mutation has been identified in an affected family member, molecular genetic testing can be used to screen the at risk relatives.
- Prenatal diagnosis during pregnancies of individuals with increased risk is available.
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.