Multiple endocrine neoplasia type 2 screening: Difference between revisions
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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 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. | ||
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| style="padding: 5px 5px; background: #F5F5F5;" colspan="2"|<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 | |||
| year = 1993 | |||
| month = | |||
| pmid = 020301434 | |||
}}</ref> | |||
|} | |} | ||
* The [[DNA]]-based testing of the c-RET gene 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 MEN2 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]]. Moreover, the aggressiveness of [[medullary thyroid cancer]] correlates with the specific c-RET codon mutation and this strong genotype-phenotype correlation ulteriorly contributes to the clinical management of patients. Specific c-RET mutations, in fact, are associated to peculiar clinical [[phenotype]]s and thus to different course and [[prognosis]] of the [[disease]]. | * The [[DNA]]-based testing of the c-RET gene 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 MEN2 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]]. Moreover, the aggressiveness of [[medullary thyroid cancer]] correlates with the specific c-RET codon mutation and this strong genotype-phenotype correlation ulteriorly contributes to the clinical management of patients. Specific c-RET mutations, in fact, are associated to peculiar clinical [[phenotype]]s and thus to different course and [[prognosis]] of the [[disease]]. | ||
* [[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 increased risk of multiple endocrine neoplasia type 2 is recommended to identify mutations in the ''RET'' gene of the offspring. | ||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} |
Revision as of 00:51, 29 September 2015
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 |
American Roentgen Ray Society Images of Multiple endocrine neoplasia type 2 screening |
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
- Screening for multiple endocrine neoplasia type 2 include the following.
References
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