Multiple endocrine neoplasia type 2 screening: Difference between revisions
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{{Multiple endocrine neoplasia type 2}} | {{Multiple endocrine neoplasia type 2}} | ||
{{CMG}}; {{AE}} {{Ammu}} | {{CMG}}; {{AE}} {{Ammu}} | ||
==Overview== | ==Overview== | ||
According to the [ | According to the [[American Society of Clinical Oncology]], [[Screening (medicine)|screening]] for multiple endocrine neoplasia type 2 by ''[[RET gene|RET]]'' [[gene]] testing is recommended for [[Child|children]] with increased risk of multiple endocrine neoplasia type 2. | ||
==Screening== | ==Screening== | ||
* Screening for multiple endocrine neoplasia type 2 include the following | * The [[DNA]]-based testing of the c-[[RET proto-oncogene|''RET'' gene]] is recommended for children with increased risk of multiple endocrine neoplasia type 2.<ref name="Yip2003">{{cite journal|last1=Yip|first1=Linwah|title=Multiple Endocrine Neoplasia Type 2|journal=Archives of Surgery|volume=138|issue=4|year=2003|pages=409|issn=0004-0010|doi=10.1001/archsurg.138.4.409}}</ref><ref>Multiple endocrine neoplasia type2. Orphanet (30.10.2015). http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=653 Accessed on October, 30, 2015</ref><ref name="MariniFalchetti2006">{{cite journal|last1=Marini|first1=Francesca|last2=Falchetti|first2=Alberto|last3=Del Monte|first3=Francesca|last4=Carbonell Sala|first4=Silvia|last5=Tognarini|first5=Isabella|last6=Luzi|first6=Ettore|last7=Brandi|first7=Maria|journal=Orphanet Journal of Rare Diseases|volume=1|issue=1|year=2006|pages=45|issn=17501172|doi=10.1186/1750-1172-1-45}}</ref><ref>{{Cite journal | ||
| author = [[Friedhelm Raue]] & [[Karin Frank-Raue]] | |||
| title = Genotype-phenotype correlation in multiple endocrine neoplasia type 2 | |||
| journal = [[Clinics (Sao Paulo, Brazil)]] | |||
| volume = 67 Suppl 1 | |||
| pages = 69–75 | |||
| year = 2012 | |||
| month = | |||
| doi = 10.6061/clinics/2012(sup01)13 | |||
| pmid = 22584709 | |||
}}</ref> | |||
*The [[DNA]]-based testing of the c-[[RET proto-oncogene|''RET'' gene]] can be easily performed on a [[blood]] sample at any age. | |||
*The [[DNA]]-based testing of the c-[[RET proto-oncogene|''RET'' gene]] offers the opportunity for early identification of the c-''[[RET gene|RET]]'' germline [[mutation]]s, thus contributing to the reduction of morbidity and mortality of multiple endocrine neoplasia type 2 syndrome. In fact, the early recognition of the mutant [[gene]] carriers makes possible the prevention and cure of [[medullary thyroid cancer]], by performing a prophylactic [[thyroidectomy]] before the clinical expression of the [[tumor]]. | |||
*The [[DNA]]-based testing of the c-[[RET proto-oncogene|''RET'' gene]] test is also of importance to detect and thus, to reduce the risk of an unsuspected [[pheochromocytoma]]. | |||
* Screening for multiple endocrine neoplasia type 2 include the following tests: | |||
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! style="padding: 0 5px; font-size: 100%; background: #4479BA" align=center | ''{{fontcolor|#FFF|Screening for multiple endocrine neoplasia type 2}}'' | ! style="padding: 0 5px; font-size: 100%; background: #4479BA" align="center" | ''{{fontcolor|#FFF|Screening for multiple endocrine neoplasia type 2}}'' | ||
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! style="padding: 0 5px; font-size: 95%; background: #DCDCDC" align=left | '''The DNA-based testing of the c-RET gene''' | ! style="padding: 0 5px; font-size: 95%; background: #DCDCDC" align="left" | '''The DNA-based testing of the c-RET gene''' | ||
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| rowspan="1" style="font-size: 95%; padding: 0 5px; background: #F5F5F5" | ▸ | | rowspan="1" style="font-size: 95%; padding: 0 5px; background: #F5F5F5" | ▸ Children with c-[[RET gene|RET]] codon 609, 768, 790, 791, 804 and 891 [[mutations]] are more prone to less aggressive and slowly growing [[medullary thyroid cancer]] and a periodic [[pentagastrin]]-stimulated test with [[thyroidectomy]], at the first abnormal test result, has been recommended. | ||
|- | |- | ||
| rowspan="1" style="font-size: 95%; padding: 0 5px; background: #F5F5F5" | ▸ Individuals with c-RET codon 609, 611, 618, 620, 630, 634, 790, V804L, 883, 918 or 922 mutations should be routinely screened for pheochromocytoma by annual determinations of fractionated urinary and free plasma | | rowspan="1" style="font-size: 95%; padding: 0 5px; background: #F5F5F5" | ▸ Individuals with c-[[RET gene|RET]] [[Genetic code|codon]] 609, 611, 618, 620, 630, 634, 790, V804L, 883, 918 or 922 [[Mutation|mutations]] should be routinely screened for [[pheochromocytoma]] by annual determinations of fractionated [[Urinary system|urinary]] and free [[plasma]] [[metanephrine]]s and [[catecholamine]]s. | ||
|} | |} | ||
* | * [[Screening]] of the [[pregnant]] woman with an increased risk of multiple endocrine neoplasia type 2 is recommended to identify mutations in the [[RET gene|''RET'' gene]] of the offspring. | ||
== | ==References== | ||
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Latest revision as of 13:59, 24 June 2019
Multiple endocrine neoplasia type 2 Microchapters |
Differentiating Multiple endocrine neoplasia type 2 from other Diseases |
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Diagnosis |
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Multiple endocrine neoplasia type 2 screening On the Web |
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Directions to Hospitals Treating Multiple endocrine neoplasia type 2 |
Risk calculators and risk factors for Multiple endocrine neoplasia type 2 screening |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [2]
Overview
According to the American Society of Clinical Oncology, screening for multiple endocrine neoplasia type 2 by RET gene testing is recommended for children with increased risk of multiple endocrine neoplasia type 2.
Screening
- The DNA-based testing of the c-RET gene is recommended for children with increased risk of multiple endocrine neoplasia type 2.[1][2][3][4]
- The DNA-based testing of the c-RET gene can be easily performed on a blood sample at any age.
- The DNA-based testing of the c-RET gene offers the opportunity for early identification of the c-RET germline mutations, thus contributing to the reduction of morbidity and mortality of multiple endocrine neoplasia type 2 syndrome. In fact, the early recognition of the mutant gene carriers makes possible the prevention and cure of medullary thyroid cancer, by performing a prophylactic thyroidectomy before the clinical expression of the tumor.
- The DNA-based testing of the c-RET gene test is also of importance to detect and thus, to reduce the risk of an unsuspected pheochromocytoma.
- Screening for multiple endocrine neoplasia type 2 include the following tests:
References
|