Related Experiment Video
Updated: Jul 17, 2026

Human Ovarian Surface Epithelium Organoids as a Platform to Study Tissue Regeneration
Published on: August 16, 2024
Ovarian dysgerminoma and Apert syndrome
Cécile Rouzier1, Christine Soler, Paul Hofman
1Laboratory of Solid Tumors Genetics, Nice University Hospital and CNRS UMR 6543, Faculty of Medicine, Nice, France.
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.
Related Concept Videos
Oogenesis
Oogenesis
Each primary oocyte is surrounded by a layer of pre-granulosa cells, forming what is known...
Disorders of the Female Reproductive System
Ovaries
On the ovarian surface, a layer of cuboidal...
Cellular Adaptation IV: Dysplasia and Metaplasia
Nondisjunction
