title: Ovarian Microcystic Stromal Tumor: A Rare Clinical Manifestation of Familial Adenomatous Polyposis.
abstract: Microcystic stromal tumor (MST) is a rare tumor of presumed sex-cord stromal differentiation. We present a case of MST arising within a patient with constitutional 5q deletion syndrome, whose deletion encompassed the APC gene. Genomic analysis of the MST revealed a point mutation in the remaining APC allele, predicted to result in abnormal splicing of Exon 7. Subsequent clinical investigation revealed multiple gastrointestinal polyps qualifying for a diagnosis of familial adenomatous polyposis. This case emphasizes the importance of an aberrant Wnt/β-catenin pathway in the development of MST and adds credence to the inclusion of MST as a rare phenotype of familial adenomatous polyposis. In a search for additional genetic aberrations which may contribute to the development of this rare tumor, genomic analysis revealed a frameshift mutation in FANCD2, a protein which plays a key role in DNA repair. This protein is expressed in human ovarian stromal cells and FANCD2-knockout mice are known to develop sex cord-stromal tumors, factors which further support a possible role of aberrant FANCD2 in the development of MST.
authors.affiliation: Departments of Pathology (C.L., R.L.G., G.R.P., C.J., J.H., D.J.V., J.E.A.) Obstetrics and Gynaecology (E.B.), Mater Health Services Mater Research Institute (D.J.V., J.E.A.), University of Queensland, Brisbane, Qld, Australia.
authors.forename: Cheng
authors.initials: C
authors.lastname: Liu
authors.forename: Renee L
authors.initials: RL
authors.lastname: Gallagher
authors.forename: Gareth R
authors.initials: GR
authors.lastname: Price
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Bolton
authors.forename: Christopher
authors.initials: C
authors.lastname: Joy
authors.forename: James
authors.initials: J
authors.lastname: Harraway
authors.forename: Deon J
authors.initials: DJ
authors.lastname: Venter
authors.forename: Jane E
authors.initials: JE
authors.lastname: Armes
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000150:complications* / Q000235:genetics; D000748:Anemia, Macrocytic / Q000150:complications* / Q000235:genetics; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D052236:Fanconi Anemia Complementation Group D2 Protein / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D017491:Genes, APC; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000473:pathology; D018312:Sex Cord-Gonadal Stromal Tumors / Q000235:genetics* / Q000473:pathology; D055815:Young Adult
chemical_list: C499905:FANCD2 protein, human; D052236:Fanconi Anemia Complementation Group D2 Protein