Multiple endocrine neoplasia type 1 other diagnostic studies: Difference between revisions
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{{Multiple endocrine neoplasia type 1}} | {{Multiple endocrine neoplasia type 1}} | ||
{{CMG}}; {{AE}} {{Ammu}} | {{CMG}}; {{AE}} {{Ammu}} | ||
==Overview== | ==Overview== | ||
==Genetic | Other diagnostic studies for multiple endocrine neoplasia type 1 include [[genetic testing]], which demonstrates [[gene mutation]] in [[proband]] of ''MEN1'' gene. | ||
* Identifying | |||
* Many studies have been performed to determine the prevalence of MEN1 gene | ==Diagnostic Studies== | ||
* Genetic testing for | 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="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><ref name="pmid19407509">{{cite journal |vauthors=Agarwal SK, Ozawa A, Mateo CM, Marx SJ |title=The MEN1 gene and pituitary tumours |journal=Horm. Res. |volume=71 Suppl 2 |issue= |pages=131–8 |year=2009 |pmid=19407509 |doi=10.1159/000192450 |url=}}</ref><ref name="pmid19193909">{{cite journal |vauthors=Eastell R, Arnold A, Brandi ML, Brown EM, D'Amour P, Hanley DA, Rao DS, Rubin MR, Goltzman D, Silverberg SJ, Marx SJ, Peacock M, Mosekilde L, Bouillon R, Lewiecki EM |title=Diagnosis of asymptomatic primary hyperparathyroidism: proceedings of the third international workshop |journal=J. Clin. Endocrinol. Metab. |volume=94 |issue=2 |pages=340–50 |year=2009 |pmid=19193909 |doi=10.1210/jc.2008-1758 |url=}}</ref><ref name="pmid21454234">{{cite journal |vauthors=Newey PJ, Thakker RV |title=Role of multiple endocrine neoplasia type 1 mutational analysis in clinical practice |journal=Endocr Pract |volume=17 Suppl 3 |issue= |pages=8–17 |year=2011 |pmid=21454234 |doi=10.4158/EP10379.RA |url=}}</ref> | ||
:* Gastrinoma at any age. | * 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. | ||
:* Multifocal duodenopancreatic | * 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. | ||
:* Parathyroid hyperplasia/ | * Genetic testing for [[mutation]]s in MEN1 is recommended if one of the following conditions is present: | ||
:* Multiglandular parathyroid adenomas/hyperplasia or recurrent | :* [[Gastrinoma]] at any age. | ||
:* Presence of one of the three main | :* Multifocal duodenopancreatic neuroendocrine tumors at any age. | ||
:* Presence of two or more features (e.g., adrenal | :* [[Parathyroid]] hyperplasia/[[adenoma]]s 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 [[tumor]]s plus one of the less common [[tumor]]s/findings. | |||
:* 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. | |||
* [[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=== | |||
* Multiple endocrine neoplasia type 1 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== | |||
{{reflist|2}} | |||
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Latest revision as of 02:45, 27 November 2017
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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][5][6]
- 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
- Multiple endocrine neoplasia type 1 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.
- ↑ 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.
- ↑ 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.
- ↑ Agarwal SK, Ozawa A, Mateo CM, Marx SJ (2009). "The MEN1 gene and pituitary tumours". Horm. Res. 71 Suppl 2: 131–8. doi:10.1159/000192450. PMID 19407509.
- ↑ Eastell R, Arnold A, Brandi ML, Brown EM, D'Amour P, Hanley DA, Rao DS, Rubin MR, Goltzman D, Silverberg SJ, Marx SJ, Peacock M, Mosekilde L, Bouillon R, Lewiecki EM (2009). "Diagnosis of asymptomatic primary hyperparathyroidism: proceedings of the third international workshop". J. Clin. Endocrinol. Metab. 94 (2): 340–50. doi:10.1210/jc.2008-1758. PMID 19193909.
- ↑ Newey PJ, Thakker RV (2011). "Role of multiple endocrine neoplasia type 1 mutational analysis in clinical practice". Endocr Pract. 17 Suppl 3: 8–17. doi:10.4158/EP10379.RA. PMID 21454234.