FOXL2: a Gene Central to Ovarian Function

Authors

Aysha Mubeen, Department of Pathology, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, USA.Follow
Carlos Parra-Herran, Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts, USA.

Document Type

Article

Publication Date

12-1-2023

Abstract

The FOXL2 (forkhead box L2) gene is located on chromosome 3 and encodes for forkhead box (FOX) family of transcription factors which play a critical role in various biological processes. Germline FOXL2 mutations have been identified in blepharophimosis/ptosis/epicanthus inversus syndrome. The somatic missense mutation in FOXL2 (FOXL2 C134W) is now known to be the defining molecular feature of adult-type granulosa cell tumour of the ovary, present in over 90% of cases of this tumour type. Immunohistochemistry for FOXL2 is used as a marker of sex cord-stromal differentiation. However, expression is not restricted to lesions harbouring FOXL2 mutations, and it is positive in a variety of sex cord-stromal proliferations other than adult-type granulosa cell tumour.

Recommended Citation

Mubeen A, Parra-Herran C. FOXL2: a gene central to ovarian function. J Clin Pathol. 2023 Dec;76(12):798-801. doi: 10.1136/jcp-2023-208827. Epub 2023 Oct 5. PMID: 37798106.