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Ovarian dysgerminoma and Apert syndrome
Author(s) -
Rouzier Cécile,
Soler Christine,
Hofman Paul,
Brennetot Caroline,
Bieth Eric,
Pedeutour Florence
Publication year - 2008
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.21156
Subject(s) - apert syndrome , medicine , dysgerminoma , exon , transversion , ovarian cancer , cancer , cancer research , genetics , ovary , gene , biology , anatomy , craniosynostosis
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. Pediatr Blood Cancer 2008;50:696–698. © 2007 Wiley‐Liss, Inc.