Searchable abstracts of presentations at key conferences in endocrinology

ea0014p125 | (1) | ECE2007

A newly detected mutation of the RET proto-oncogene in exon 8 as a cause of multiple endocrine neoplasia Type 2A

Bethanis S. , Palouka Th. , Avgoustis Ch. , Koutsodontis G. , Bei T. , Yannoukakos D. , Tsagarakis S.

Multiple endocrine neoplasia type2A (MEN 2A) is a syndrome of familial cancers characterized by medullary thyroid carcinoma (MTC), pheochromocytoma and hyperplasia of the parathyroid glands. RET protooncogene is the responsible gene for MEN 2A; in more than 96% of MEN 2A families mutations in RET exon 10 or exon 11 are identified. Herein we report a MEN 2A case affected by a mutation (Gly533Cys) in exon 8. A 66-yr-old male patient was referred to our Department due ...