Multiple endocrine neoplasia type 2 screening: Difference between revisions
No edit summary |
No edit summary |
||
Line 14: | Line 14: | ||
! 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''' | ||
|- | |- | ||
| rowspan="1" style="font-size: 95%; padding: 0 5px; background: #F5F5F5" | ▸ For children with c-RET codon 609, 768, 790, 791, 804 and 891 mutations have a less aggressive and slowly growing | | rowspan="1" style="font-size: 95%; padding: 0 5px; background: #F5F5F5" | ▸ For children with c-RET codon 609, 768, 790, 791, 804 and 891 mutations have a less aggressive and slowly growing medullary thyroid cancer, a periodic [[pentagastrin]]-stimulated test with [[thyroidectomy]], at the first abnormal test result, has also been proposed.<ref name="pmiddoi:10.1186/1750-1172-1-45">{{cite journal| author=Schmoldt A, Benthe HF, Haberland G| title=Digitoxin metabolism by rat liver microsomes. | journal=Biochem Pharmacol | year= 1975 | volume= 24 | issue= 17 | pages= 1639-41 | pmid=doi:10.1186/1750-1172-1-45 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10 }} </ref> | ||
|- | |- | ||
| 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 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. | ||
|} | |} | ||
* 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 | * 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 16:18, 28 September 2015
Multiple endocrine neoplasia type 2 Microchapters |
Differentiating Multiple endocrine neoplasia type 2 from other Diseases |
---|
Diagnosis |
Treatment |
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 [guideline name], screening for multiple endocrine neoplasia type 2 by RET gene testing is recommended for children with increased risk of Multiple endocrine neoplasia type 2 with increased risk of Multiple endocrine neoplasia type 2.
Screening
- Screening for multiple endocrine neoplasia type 2 include the following.
References
|