title: Familial adenomatous polyposis associated with multiple endocrine neoplasia type 1-related tumors and thyroid carcinoma: a case report with clinicopathologic and molecular analyses.
abstract: We describe a sporadic case with familial adenomatous polyposis, multiple endocrine neoplasia type 1 (MEN1)-related tumors (an endocrine cell tumor of the pancreas and bilateral parathyroid tumors), and a papillary thyroid carcinoma. To clarify how mutations of the adenomatous polyposis coli ( APC ) gene and the MEN1 gene, responsible for familial adenomatous polyposis and MEN1, respectively, might have contributed to tumorigenesis in this case, we studied germline mutations in both genes and loss of heterozygosity at their genetic loci in multiple lesions. In addition, we performed immunohistochemistry for beta-catenin, associated with the function of the APC gene. A germline mutation was found in the APC gene but not in the MEN1 gene. Normal allelic loss at the APC gene locus was observed in bilateral parathyroid tumors. Immunohistochemical staining of beta-catenin demonstrated accumulation in the cytoplasm in addition to membrane staining in all analyzed tumors and a strong nuclear reaction in the endocrine cell tumor of the pancreas. The presence of normal allelic deletions of the APC gene in bilateral parathyroid tumors and nuclear staining of beta-catenin in the pancreatic tumor in addition to the germline mutations suggests that functional loss of the APC gene played an important role not only in familial adenomatous polyposis but also in the MEN1-related tumors in this case.
authors.affiliation: Department of Medicine, Cancer Institute Hospital, Tokyo, Japan. sakaiy-ind@umin.ac.jp
authors.forename: Yuzo
authors.initials: Y
authors.lastname: Sakai
authors.forename: Koich
authors.initials: K
authors.lastname: Koizumi
authors.forename: Iwao
authors.initials: I
authors.lastname: Sugitani
authors.forename: Ken
authors.initials: K
authors.lastname: Nakagawa
authors.forename: Masami
authors.initials: M
authors.lastname: Arai
authors.forename: Joji
authors.initials: J
authors.lastname: Utsunomiya
authors.forename: Tetsuichiro
authors.initials: T
authors.lastname: Muto
authors.forename: Rikiya
authors.initials: R
authors.lastname: Fujita
authors.forename: Yo
authors.initials: Y
authors.lastname: Kato
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D025601:Adenomatous Polyposis Coli Protein / Q000235:genetics; D000328:Adult; D002291:Carcinoma, Papillary / Q000150:complications* / Q000235:genetics / Q000473:pathology / Q000601:surgery; D005260:Female; D011905:Genes, ras; D018095:Germ-Line Mutation; D006801:Humans; D019656:Loss of Heterozygosity; D018761:Multiple Endocrine Neoplasia Type 1 / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D009363:Neoplasm Proteins / Q000235:genetics; D010190:Pancreatic Neoplasms / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D010282:Parathyroid Neoplasms / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D011518:Proto-Oncogene Proteins; D013964:Thyroid Neoplasms / Q000150:complications* / Q000235:genetics / Q000473:pathology / Q000601:surgery
chemical_list: D025601:Adenomatous Polyposis Coli Protein; C105373:MEN1 protein, human; D009363:Neoplasm Proteins; D011518:Proto-Oncogene Proteins