Ovarian Microcystic Stromal Tumor: A Rare Clinical Manifestation of Familial Adenomatous Polyposis.
Int J Gynecol Pathol
; 35(6): 561-565, 2016 Nov.
Article
em En
| MEDLINE
| ID: mdl-27015438
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/ß-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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Base de dados:
MEDLINE
Assunto principal:
Neoplasias Ovarianas
/
Tumores do Estroma Gonadal e dos Cordões Sexuais
/
Polipose Adenomatosa do Colo
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Proteína do Grupo de Complementação D2 da Anemia de Fanconi
/
Anemia Macrocítica
Tipo de estudo:
Prognostic_studies
Limite:
Adult
/
Female
/
Humans
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article