title: A novel missense mutation of the MEN1 gene in a multiple endocrine neoplasia type 1 patient associated with carcinoid syndrome.
abstract: 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.
authors.affiliation: Department of Internal Medicine, Kyoto First Red Cross Hospital, 15-749 Honmachi, Higashiyama-ku, Kyoto 605-0981.
authors.forename: Chizuko
authors.initials: C
authors.lastname: Ukita
authors.forename: Makiko
authors.initials: M
authors.lastname: Yamaguchi
authors.forename: Toru
authors.initials: T
authors.lastname: Tanaka
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Shigeta
authors.forename: Mitsushige
authors.initials: M
authors.lastname: Nishikawa
mesh_terms: D000409:Alanine / Q000235:genetics; D002276:Carcinoid Tumor / Q000235:genetics*; D004252:DNA Mutational Analysis; D004379:Duodenal Neoplasms / Q000235:genetics; D005260:Female; D005453:Fluorescence; D006801:Humans; D006961:Hyperparathyroidism / Q000235:genetics; D007150:Immunohistochemistry; D008113:Liver Neoplasms / Q000235:genetics / Q000473:pathology; D019656:Loss of Heterozygosity; D018895:Microsatellite Repeats; D008875:Middle Aged; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics*; D020125:Mutation, Missense; D010190:Pancreatic Neoplasms / Q000235:genetics; D010280:Parathyroid Glands / Q000378:metabolism; D011392:Proline / Q000235:genetics
chemical_list: D011392:Proline; D000409:Alanine