Searchable abstracts of presentations at key conferences in endocrinology

ea0041ep642 | Endocrine tumours and neoplasia | ECE2016

A case of multiple endocrine neoplasia type 2A with a C634A mutation and a L769L polymorphism in RET proto-oncogene

Jeong Kwon Min , Kim Taekyoon , Hee Lee Soon , Hyun Park Jeong

Introduction: Multiple endocrine neoplasia type 2A (MEN2A) is an autosomal dominant condition characterized by the presence of a medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism. The germ-line mutations of the RET proto-oncogene cause MEN2A. Specific RET mutations correlate with the onset of age and the aggressiveness of the disease. It has been reported that polymorphisms of RET may have a modifier effect on the presentation.Case re...