A Novel Missense Mutation of the MEN1 Gene in a Multiple Endocrine Neoplasia Type 1 Patient Associated with Carcinoid Syndrome

スポンサーリンク

概要

• 論文の詳細を見る

• We report a multiple endocrine neoplasia type 1 (MEN1) patient associated with carcinoid syndrome. A 50-year-old woman had parathyroid hyperplasia with primary hyperparathyroidism, a pancreatic tumor and carcinoid tumors in the liver and duodenum. The primary lesion of the carcinoid was probably the bronchus. Direct sequencing analysis revealed a novel missense mutation at codon 342 in exon 7 causing an amino acid change from alanine to proline (A342P) of the MEN1 gene. Loss of heterozygosity (LOH) was also detected in the resected parathyroid tissue. This mutation appeared to play an important role in the tumorigenesis of the endocrine tissues in the present case.(Internal Medicine 42: 1112-1116, 2003)

• 社団法人　日本内科学会の論文

著者

• SHIGETA Hirofumi

  The Department of Internal Medicine, Kyoto First Red Cross Hospital

関連論文

• A Novel Missense Mutation of the MEN1 Gene in a Multiple Endocrine Neoplasia Type 1 Patient Associated with Carcinoid Syndrome

スポンサーリンク