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Ovarian dysgerminoma and Apert syndrome.

Authors: Rouzier, C  Soler, C  Hofman, P  Brennetot, C  Bieth, E  Pedeutour, F 
Citation: Rouzier C, etal., Pediatr Blood Cancer. 2008 Mar;50(3):696-8.
Pubmed: (View Article at PubMed) PMID:17243131
DOI: Full-text: DOI:10.1002/pbc.21156

Apert syndrome is an autosomal dominant disorder that results from gain-of-function mutations in the FGFR2 gene. FGFR2 also has been shown to be amplified in stomach and breast cancers. We report the case of a 13-year-old female with Apert syndrome who developed an ovarian dysgerminoma. The FGFR2 exon 7 sequencing showed the classical Apert syndrome c.758C > G transversion (p.Pro253Arg). The genomic analyses of the tumor cells showed low level gains and losses of several chromosomes. This is the second report of the association of Apert syndrome with cancer. Our observation raises the hypothesis of a role for FGFR2 mutations in tumorigenesis.


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CRRD Object Information
CRRD ID: 2289660
Created: 2008-02-05
Species: All species
Last Modified: 2008-02-05
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.