Ovarian Granulosa Cell tumors.
Ponente: Reiner Veitia
Institut Jacques Monod (IJM) (CNRS -Université Paris Diderot) [Paris, France]
Host: Alberto Martín Pendás
Salón de Actos del Centro de Investigación del Cáncer
Ovarian granulosa cell tumors are the most common sex-cord stromal tumors and have juvenile (JGCTs) and adult forms (AGCTs). They represent up to 8% of ovarian malignancies. A highly recurrent somatic mutation affecting the transcription factor FOXL2 has been reported in most AGCTs. FOXL2 is preferentially expressed in the ovary, the eyelids and the pituitary. Its germline mutations are responsible for a human syndrome involving eyelid and mild craniofacial defects associated with primary ovarian insufficiency. I will summarise data on FOXL2 modulators, targets, partners and on the their implication in AGCTs. Juvenile granulosa cell tumors (JGCTs) of the ovary are pediatric neoplasms representing 5% of all GCTs. We have recently reported the pervasive presence of in-frame duplications within the oncogene AKT1 in JGCTs. Their molecular impact and potential implication as driver mutations will also be discussed.