You are here

Article Text

Article menu
Download PDFPDF
Gene of the month
FOXL2: a gene central to ovarian function
  1. Aysha Mubeen1,
  2. Carlos Parra-Herran2
  1. 1 Department of Pathology, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, USA
  2. 2 Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts, USA
  1. Correspondence to Dr Aysha Mubeen, Department of Pathology, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, USA; amubeen{at}salud.unm.edu

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.

  • Eye Diseases
  • Genes, Neoplasm
  • OVARY
  • Pituitary Diseases

https://doi.org/10.1136/jcp-2023-208827

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    View Full Text

    Footnotes

    • Handling editor Sarah Chiang.

    • Twitter @AMubeen_Path

    • Contributors All authors made substantial contributions to the conception or design of the work; all authors are accountable for all aspects of the work.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Commissioned; externally peer reviewed.