Multiple endocrine neoplasia type 1 other diagnostic studies: Difference between revisions
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==Diagnostic Studies== | ==Diagnostic Studies== | ||
* The diagnostic studies are as follows:<ref name="pmid22723327">{{cite journal |vauthors=Thakker RV, Newey PJ, Walls GV, Bilezikian J, Dralle H, Ebeling PR, Melmed S, Sakurai A, Tonelli F, Brandi ML |title=Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1) |journal=J. Clin. Endocrinol. Metab. |volume=97 |issue=9 |pages=2990–3011 |year=2012 |pmid=22723327 |doi=10.1210/jc.2012-1230 |url=}}</ref><ref name="pmid20948872">{{cite journal| author=Falchetti A| title=Genetic screening for multiple endocrine neoplasia syndrome type 1 (MEN-1): when and how. | journal=F1000 Med Rep | year= 2010 | volume= 2 | issue= | pages= | pmid=20948872 | doi=10.3410/M2-14 | pmc=2948394 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20948872 }} </ref><ref name="pmid28184288">{{cite journal| author=Falchetti A| title=Genetics of multiple endocrine neoplasia type 1 syndrome: what's new and what's old. | journal=F1000Res | year= 2017 | volume= 6 | issue= | pages= | pmid=28184288 | doi=10.12688/f1000research.7230.1 | pmc=5288685 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28184288 }} </ref><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><ref name="pmid20948872">{{cite journal| author=Falchetti A| title=Genetic screening for multiple endocrine neoplasia syndrome type 1 (MEN-1): when and how. | journal=F1000 Med Rep | year= 2010 | volume= 2 | issue= | pages= | pmid=20948872 | doi=10.3410/M2-14 | pmc=2948394 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20948872 }} </ref></ref> <ref name="pmid28184288">{{cite journal| author=Falchetti A| title=Genetics of multiple endocrine neoplasia type 1 syndrome: what's new and what's old. | journal=F1000Res | year= 2017 | volume= 6 | issue= | pages= | pmid=28184288 | doi=10.12688/f1000research.7230.1 | pmc=5288685 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28184288 }} </ref><ref name="pmid20948872">{{cite journal| author=Falchetti A| title=Genetic screening for multiple endocrine neoplasia syndrome type 1 (MEN-1): when and how. | journal=F1000 Med Rep | year= 2010 | volume= 2 | issue= | pages= | pmid=20948872 | doi=10.3410/M2-14 | pmc=2948394 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20948872 }}</ref> | |||
* 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. | * 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. | ||
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:* Presence of two or more features (e.g., [[adrenal adenoma]]s and [[carcinoid tumor]]) | :* Presence of two or more features (e.g., [[adrenal adenoma]]s and [[carcinoid tumor]]) | ||
:* 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. | * 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. | ||
* 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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* Child of an individual to multiple endocrine neoplasia type 1 syndrome has 50% chance of inheritance. | * 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. | * 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. | * 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. | * [[Prenatal diagnosis]] during pregnancies of individuals with increased risk is available. | ||
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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 of MEN1 gene.
Diagnostic Studies
- The diagnostic studies are as follows:[1][2][3][4][2]</ref> [3][2]
- 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.
- 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.
References
- ↑ Thakker RV, Newey PJ, Walls GV, Bilezikian J, Dralle H, Ebeling PR, Melmed S, Sakurai A, Tonelli F, Brandi ML (2012). "Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1)". J. Clin. Endocrinol. Metab. 97 (9): 2990–3011. doi:10.1210/jc.2012-1230. PMID 22723327.
- ↑ 2.0 2.1 2.2 Falchetti A (2010). "Genetic screening for multiple endocrine neoplasia syndrome type 1 (MEN-1): when and how". F1000 Med Rep. 2. doi:10.3410/M2-14. PMC 2948394. PMID 20948872.
- ↑ 3.0 3.1 Falchetti A (2017). "Genetics of multiple endocrine neoplasia type 1 syndrome: what's new and what's old". F1000Res. 6. doi:10.12688/f1000research.7230.1. PMC 5288685. PMID 28184288.
- ↑ 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.