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MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A (MEN2A) & MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B (MEN2B)

Clinical Genetics Endocrinology Genomics Paediatrics


RET GENE ANALYSIS

Multiple Endocrine Neoplasia type 2A (MEN2A) is diagnosed clinically by the occurrence of two or more specific endocrine tumours: medullary thyroid carcinoma (MTC), phaeochromocytoma, or parathyroid adenoma/hyperplasia. Variants in exons 5, 7, 8, 10, 11, 13, 14, 15 and 16 of the RET gene have been identified in >98% MEN2A cases (Eng et al 1996 JAMA 276:1575-1579).

Multiple Endocrine Neoplasia type 2B (MEN2B) is characterised by the presence of mucosal neuromas of lips and tongue as well as distinctive facies with enlarged lips, a ‘marfanoid’ body habitus and medullary thyroid cancer. Approximately 95% of individuals with the MEN2B phenotype have a single point variant, p.Met918Thr (p.M918T) in exon 16 of the RET gene (Eng et al 1996 JAMA 276:1575-1579). A second variant at codon 883 (p.Ala883Phe; p.A883F) in exon 15 of the RET gene has also been reported in individuals without a p.M918T variant (Gimm et al 1997 J Clin Endocrinol Metab 82:3902-3904).

The laboratory participates in the Multiple Endocrine Neoplasia type 2 and Sequencing European Molecular Genetics Quality Network (EMQN) schemes.

NHSE test directory code: R218 Multiple endocrine neoplasia type 2.  Testing criteria can be found here.

Useful links: AMEND is a registered charity offering support for patients with MEN types 1 and 2, and associated sporadic growths. Click here to view their website.

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