title: Ovarian microcystic stromal tumor: A novel extracolonic tumor in familial adenomatous polyposis.
abstract: Ovarian microcystic stromal tumor (MCST) is a very rare neoplasm; hence, its nomenclature was recently designated as "Distinctive morphologic and immunohistochemical features" in 2009. Its exact origin, etiological genetic alterations, and background are not yet clearly known. Familial adenomatous polyposis (FAP) is an autosomal dominant disease that leads to development of colorectal polyps via germ-line mutations of the APC gene on chromosome 5q21∼22. In this study, we report a 40-year-old female patient who had ovarian MCST and FAP. On sequencing the APC gene in ovarian MSCT, we detected a novel somatic mutation of the APC gene in exon 11, with a heterozygous deletion at nucleotide position c.1540delG (p.Ala514 Profs*9). Mutations of β-catenin (CTNNB1) and FOXL2 were not detected. Although one case demonstrating involvement of Wnt/β-catenin in ovarian MCST associated with FAP has been presented previously, no detailed information was provided. Thus, this is the ovarian MCST with a somatic mutation of APC in a patient with FAP.
authors.affiliation: Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Ulsan University Hospital, Ulsan, Korea.
authors.forename: Sang Hun
authors.initials: SH
authors.lastname: Lee
authors.forename: Young Wha
authors.initials: YW
authors.lastname: Koh
authors.forename: Hyun Jin
authors.initials: HJ
authors.lastname: Roh
authors.forename: Hee Jeong
authors.initials: HJ
authors.lastname: Cha
authors.forename: Yong-Soon
authors.initials: YS
authors.lastname: Kwon
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics*; D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D025601:Adenomatous Polyposis Coli Protein / Q000235:genetics; D000328:Adult; D002895:Chromosomes, Human, Pair 5; D005260:Female; D006801:Humans; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics*
chemical_list: C555337:APC protein, human; D025601:Adenomatous Polyposis Coli Protein