갑상선 유두암을 동반한 제1형 다발성 내분비 선종증 1예

Abstract

This is the first report of papillary thyroid carcinoma combined with multiple endocrine neoplasia type 1 (MEN 1). It is an hereditary syndrome characterized by neoplastic disorders such as pituitary adenoma, parathyroid adenoma or hyperplasia and pancreatic neuroendocrine tumor, such as gastrinoma just like in our case. But sometimes pheochromocytoma, mucosal ganglioneuromas, lipoma, forgut carcinoid and thyroid disease could be accompany the disease, but coincidental papillary thyroid carcinoma was never reported before in Korea. Herein we represent a 39-year-old woman who manifested typical features of MEN 1 with coincidental papillary thyroid carcinoma. Despite with definite family history of MEN 1, her genetic analysis of DNA had not found any germline mutation in MEN 1 gene. Unidentified culprit gene unable further genetic study of finding LOH (loss of heterogeneity) in 11q13, the possible explanation of papillary thyroid carcinoma as a new component of MEN 1. As we have experienced a case of MEN 1 combined with papillary thyroid carcinoma, we report it with the review of literature.