MEN2 screening dilemmas in a family with a novel RET mutation in the MEN2 susceptibility region of the gene, a family history of Hirschsprung disease, and no family history of MEN2-related tumours.

摘要

RET mutations are causative of the tumour predisposition syndrome - multiple endocrine neoplasia type 2 (MEN2), with its subtypes MEN2A (lifetime risk - medullary thyroid carcinoma 95%, phaechromocytoma 50%, parathyroid adenoma/hyperplasia 20%-30%), MEN2B (lifetime risk - medullary thyroid carcinoma 100%, phaeochromocytomas 50%, plus associated phenotype including facial neuromas, bowel ganglioneuromas and marfanoid habitus) and familial medullary thyroid cancer (FMTC), which is characterized by a family history of medullary thyroid carcinoma alone.