Multiple endocrine neoplasia type 2 screening
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Differentiating Multiple endocrine neoplasia type 2 from other Diseases |
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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.
- For children with c-RET codon 609, 768, 790, 791, 804 and 891 mutations have a less aggressive and slowly growing MTC, a periodic pentagastrin-stimulated test with thyroidectomy, at the first abnormal test result, has also been proposed.
- Individuals with c-RET codon 609, 611, 618, 620, 630, 634, 790, V804L, 883, 918 or 922 mutations should be routinely screened for PHEO by annual determinations of fractionated urinary and free plasma metanephrines and catecholamines.
- 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