Multiple endocrine neoplasia type 2 screening: Difference between revisions
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==Overview== | ==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. | 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 children with increased risk of multiple endocrine neoplasia type 2. | ||
==Screening== | ==Screening== | ||
* The [[DNA]]-based testing of the c-''RET'' gene is recommended for children with increased risk of multiple endocrine neoplasia type 2. It can be easily performed on a blood sample at any age. It offers the opportunity for early identification of the c-''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]]. This test is also of importance to detect and thus, to reduce the risk of an unsuspected [[pheochromocytoma]]. | * 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. It can be easily performed on a [[blood]] sample at any age. It 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]]. This 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. | * 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" | ▸ Children with c-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.<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> | | 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.<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> | ||
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| 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 [[metanephrine]]s and [[catecholamine]]s. | | rowspan="1" style="font-size: 95%; padding: 0 5px; background: #F5F5F5" | ▸ Individuals with c-[[RET gene|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 system|urinary]] and free plasma [[metanephrine]]s and [[catecholamine]]s. | ||
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| style="padding: 5px 5px; background: #F5F5F5; | | colspan="2" style="padding: 5px 5px; background: #F5F5F5;" |<small>Adapted from Marquard J, Eng C. Multiple Endocrine Neoplasia Type 2. 1999 Sep 27 [Updated 2015 Jun 25]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1257/<ref>{{Cite journal| author = [[Jessica Marquard]] & [[Charis Eng]] | ||
| title = Multiple Endocrine Neoplasia Type 2 | | title = Multiple Endocrine Neoplasia Type 2 | ||
| year = 1993 | | year = 1993 | ||
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}}</ref> | }}</ref> | ||
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* [[Screening]] of the [[pregnant]] woman with increased risk of multiple endocrine neoplasia type 2 is recommended to identify mutations in the ''RET'' gene of the offspring. | * [[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== | ==References== | ||
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Revision as of 14:23, 25 October 2017
Multiple endocrine neoplasia type 2 Microchapters |
Differentiating Multiple endocrine neoplasia type 2 from other Diseases |
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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. It can be easily performed on a blood sample at any age. It 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. This 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
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