Multiple endocrine neoplasia type 2 screening
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Multiple endocrine neoplasia type 2 Microchapters |
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Differentiating Multiple endocrine neoplasia type 2 from other Diseases |
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Diagnosis |
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Treatment |
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Multiple endocrine neoplasia type 2 screening On the Web |
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American Roentgen Ray Society Images of Multiple endocrine neoplasia type 2 screening |
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Directions to Hospitals Treating Multiple endocrine neoplasia type 2 |
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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
- 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 mutations, 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 MTC, 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 PHEO. Moreover, the aggressiveness of MTC 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 phenotypes and thus to different course and prognosis of the disease.
- During the Seventh International Multiple Endocrine Neoplasia Meeting in Gubbio in 1999 [6], the risk of MTC has been stratified in three categories according to the mutations of c-RET as following.
| Gene | Risk |
|---|---|
| Children with MEN2B and/or c-RET codon 883, 918,
922 |
Highest risk of aggressive MTC |
| Children with any c-RET codon 611, 618, 620 or 634
mutations |
High risk of MTC |
| Children with c-RET codon 609, 768, 790, 791, 804
and 891 mutations |
Less aggressive and slowly growing MTC |
- Ionized calcium level yearly for MEN 2A
- Parathyroid hormone level yearly for MEN 2A
- Catacholamines, epinephrine and norepinephrine yearly for MEN 2A and MEN 2B
- Magnetic resonance imaging and computerized tomography for pheochromocytoma every 2-4 years