Ovarian dysgerminoma and Apert syndrome.
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.
Rouzier
Cécile
C
Laboratory of Solid Tumors Genetics, Nice University Hospital and CNRS UMR 6543, Faculty of Medicine, Nice, France.
Soler
Christine
C
Hofman
Paul
P
Brennetot
Caroline
C
Bieth
Eric
E
Pedeutour
Florence
F
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
D009363:Neoplasm Proteins; D005047:Etoposide; D016190:Carboplatin; C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2