Multiple endocrine neoplasia type 2 screening

Multiple endocrine neoplasia type 2 Microchapters
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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 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.

Screening for multiple endocrine neoplasia type 2 The DNA-based testing of the c-RET gene ▸ 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. ▸ 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 metanephrines and catecholamines. 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/ 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