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 on this webpage: https://www.england.nhs.uk/publication/national-genomic-test-directories/.
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.