Title |
Ovarian Microcystic Stromal Tumor
|
---|---|
Published in |
International Journal of Gynecological Pathology, November 2016
|
DOI | 10.1097/pgp.0000000000000289 |
Pubmed ID | |
Authors |
Cheng Liu, Renee L. Gallagher, Gareth R. Price, Elizabeth Bolton, Christopher Joy, James Harraway, Deon J. Venter, Jane E. Armes |
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. |
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Unknown | 1 | 100% |
Demographic breakdown
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Scientists | 1 | 100% |
Mendeley readers
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Demographic breakdown
Readers by professional status | Count | As % |
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Student > Bachelor | 3 | 20% |
Researcher | 3 | 20% |
Other | 1 | 7% |
Student > Ph. D. Student | 1 | 7% |
Professor | 1 | 7% |
Other | 2 | 13% |
Unknown | 4 | 27% |
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Social Sciences | 1 | 7% |
Biochemistry, Genetics and Molecular Biology | 1 | 7% |
Unknown | 4 | 27% |