Searchable abstracts of presentations at key conferences in endocrinology

ea0009p220 | Clinical | BES2005

Unusual presentation of multiple endocrine neoplasia 2A

Saravanan P , Goss L , Dunn J , Paisey R , Rankin J , MacLeod K

Multiple Endocrine Neoplasia 2 (MEN2) is a rare, autosomal dominant neuroendocrine tumour. MEN2A is a syndrome of medullary thyroid carcinoma (MTC), pheochromocytoma and parathyroid tumours. MEN2B is characterised by MTC, pheochromocytoma, marfanoid habitus and intestinal & mucosal ganglioneuromas. MEN2 syndromes are due to mutations in the RET proto-oncogene, located near the centromere of the chromosome 10. While the commonest mutations described in MEN2A is in exon 11 (...