title: Ovarian dysgerminoma and Apert syndrome.
abstract: 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.
authors.affiliation: Laboratory of Solid Tumors Genetics, Nice University Hospital and CNRS UMR 6543, Faculty of Medicine, Nice, France.
authors.forename: Cécile
authors.initials: C
authors.lastname: Rouzier
authors.forename: Christine
authors.initials: C
authors.lastname: Soler
authors.forename: Paul
authors.initials: P
authors.lastname: Hofman
authors.forename: Caroline
authors.initials: C
authors.lastname: Brennetot
authors.forename: Eric
authors.initials: E
authors.lastname: Bieth
authors.forename: Florence
authors.initials: F
authors.lastname: Pedeutour
mesh_terms: D000168:Acrocephalosyndactylia / Q000235:genetics*; D000293:Adolescent; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D016190:Carboplatin / Q000008:administration & dosage; D002869:Chromosome Aberrations; D003131:Combined Modality Therapy; D004407:Dysgerminoma / Q000188:drug therapy / Q000235:genetics* / Q000601:surgery; D005047:Etoposide / Q000008:administration & dosage; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009363:Neoplasm Proteins / Q000235:genetics* / Q000502:physiology; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D010051:Ovarian Neoplasms / Q000188:drug therapy / Q000235:genetics* / Q000601:surgery; D010052:Ovariectomy; D017354:Point Mutation; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics* / Q000502:physiology; D012074:Remission Induction
chemical_list: D009363:Neoplasm Proteins; D005047:Etoposide; D016190:Carboplatin; C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2