Ovarian Microcystic Stromal Tumor: A Rare Clinical Manifestation of Familial Adenomatous Polyposis

• Published in: International journal of gynecological pathology Vol. 35; no. 6; p. 561
• Main Authors: Liu, Cheng, Gallagher, Renee L, Price, Gareth R, Bolton, Elizabeth, Joy, Christopher, Harraway, James, Venter, Deon J, Armes, Jane E
• Format: Journal Article
• Language: English
• Published: United States 01.11.2016
• Subjects: Adenomatous Polyposis Coli - complications; Adenomatous Polyposis Coli - genetics; Anemia, Macrocytic - complications; Anemia, Macrocytic - genetics; Chromosome Deletion; Chromosomes, Human, Pair 5 - genetics; Fanconi Anemia Complementation Group D2 Protein - genetics; Female; Frameshift Mutation; Genes, APC; Humans; Oligonucleotide Array Sequence Analysis; Ovarian Neoplasms - genetics; Ovarian Neoplasms - pathology; Sex Cord-Gonadal Stromal Tumors - genetics; Sex Cord-Gonadal Stromal Tumors - pathology; Young Adult
• ISSN: 1538-7151
• DOI: 10.1097/PGP.0000000000000289

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.