Ovarian dysgerminoma and Apert syndrome

Pediatr Blood Cancer. 2008 Mar;50(3):696-8. doi: 10.1002/pbc.21156.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Acrocephalosyndactylia / genetics*
  • Adolescent
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Carboplatin / administration & dosage
  • Chromosome Aberrations
  • Combined Modality Therapy
  • Dysgerminoma / drug therapy
  • Dysgerminoma / genetics*
  • Dysgerminoma / surgery
  • Etoposide / administration & dosage
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Neoplasm Proteins / genetics*
  • Neoplasm Proteins / physiology
  • Neoplastic Syndromes, Hereditary / genetics*
  • Nucleic Acid Hybridization
  • Ovarian Neoplasms / drug therapy
  • Ovarian Neoplasms / genetics*
  • Ovarian Neoplasms / surgery
  • Ovariectomy
  • Point Mutation
  • Receptor, Fibroblast Growth Factor, Type 2 / genetics*
  • Receptor, Fibroblast Growth Factor, Type 2 / physiology
  • Remission Induction

Substances

  • Neoplasm Proteins
  • Etoposide
  • Carboplatin
  • FGFR2 protein, human
  • Receptor, Fibroblast Growth Factor, Type 2