Ovarian microcystic stromal tumor: a rare clinical manifestation of familial adenomatous polyposis

Liu, Cheng, Gallagher, Renee L., Price, Gareth R., Bolton, Elizabeth, Joy, Christopher, Harraway, James, Venter, Deon J. and Armes, Jane E. (2016) Ovarian microcystic stromal tumor: a rare clinical manifestation of familial adenomatous polyposis. International Journal of Gynecological Pathology, 35 6: 561-565. doi:10.1097/PGP.0000000000000289

Author Liu, Cheng
Gallagher, Renee L.
Price, Gareth R.
Bolton, Elizabeth
Joy, Christopher
Harraway, James
Venter, Deon J.
Armes, Jane E.
Title Ovarian microcystic stromal tumor: a rare clinical manifestation of familial adenomatous polyposis
Journal name International Journal of Gynecological Pathology   Check publisher's open access policy
ISSN 1538-7151
Publication date 2016-03-24
Year available 2016
Sub-type Article (original research)
DOI 10.1097/PGP.0000000000000289
Open Access Status Not Open Access
Volume 35
Issue 6
Start page 561
End page 565
Total pages 5
Place of publication Philadelphia, PA, United States
Publisher Lippincott Williams & Wilkins
Collection year 2017
Language eng
Formatted 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.
Keyword Microcystic stromal tumor
Familial adenomatous polyposis
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Mater Research Institute-UQ (MRI-UQ)
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