FOXO1/3 and PTEN Depletion in Granulosa Cells Promotes Ovarian Granulosa Cell Tumor Development

Mol Endocrinol. 2015 Jul;29(7):1006-24. doi: 10.1210/me.2015-1103. Epub 2015 Jun 10.

Abstract

The forkhead box (FOX), FOXO1 and FOXO3, transcription factors regulate multiple functions in mammalian cells. Selective inactivation of the Foxo1 and Foxo3 genes in murine ovarian granulosa cells severely impairs follicular development and apoptosis causing infertility, and as shown here, granulosa cell tumor (GCT) formation. Coordinate depletion of the tumor suppressor Pten gene in the Foxo1/3 strain enhanced the penetrance and onset of GCT formation. Immunostaining and Western blot analyses confirmed FOXO1 and phosphatase and tensin homolog (PTEN) depletion, maintenance of globin transcription factor (GATA) 4 and nuclear localization of FOXL2 and phosphorylated small mothers against decapentaplegic (SMAD) 2/3 in the tumor cells, recapitulating results we observed in human adult GCTs. Microarray and quantitative PCR analyses of mouse GCTs further confirmed expression of specific genes (Foxl2, Gata4, and Wnt4) controlling granulosa cell fate specification and proliferation, whereas others (Emx2, Nr0b1, Rspo1, and Wt1) were suppressed. Key genes (Amh, Bmp2, and Fshr) controlling follicle growth, apoptosis, and differentiation were also suppressed. Inhbb and Grem1 were selectively elevated, whereas reduction of Inha provided additional evidence that activin signaling and small mothers against decapentaplegic (SMAD) 2/3 phosphorylation impact GCT formation. Unexpectedly, markers of Sertoli/epithelial cells (SRY [sex determining region Y]-box 9/keratin 8) and alternatively activated macrophages (chitinase 3-like 3) were elevated in discrete subpopulations within the mouse GCTs, indicating that Foxo1/3/Pten depletion not only leads to GCTs but also to altered granulosa cell fate decisions and immune responses. Thus, analyses of the Foxo1/3/Pten mouse GCTs and human adult GCTs provide strong evidence that impaired functions of the FOXO1/3/PTEN pathways lead to dramatic changes in the molecular program within granulosa cells, chronic activin signaling in the presence of FOXL2 and GATA4, and tumor formation.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Animals
  • Carcinogenesis / metabolism
  • Carcinogenesis / pathology*
  • Female
  • Forkhead Box Protein O1
  • Forkhead Box Protein O3
  • Forkhead Transcription Factors / metabolism*
  • Gene Expression Profiling
  • Gene Expression Regulation, Neoplastic / drug effects
  • Gonadotropins / pharmacology
  • Granulosa Cell Tumor / genetics
  • Granulosa Cell Tumor / metabolism*
  • Granulosa Cell Tumor / pathology
  • Humans
  • Immunohistochemistry
  • Integrases / metabolism
  • Keratin-8 / metabolism
  • Lectins / metabolism
  • Mice, Knockout
  • Middle Aged
  • Models, Biological
  • PTEN Phosphohydrolase / metabolism*
  • SOX9 Transcription Factor / metabolism
  • Smad Proteins / metabolism
  • beta-N-Acetylhexosaminidases / metabolism

Substances

  • FOXO1 protein, human
  • FOXO3 protein, human
  • Forkhead Box Protein O1
  • Forkhead Box Protein O3
  • Forkhead Transcription Factors
  • FoxO3 protein, mouse
  • Foxo1 protein, mouse
  • Gonadotropins
  • Keratin-8
  • Lectins
  • SOX9 Transcription Factor
  • Smad Proteins
  • Cre recombinase
  • Integrases
  • PTEN Phosphohydrolase
  • Chil3 protein, mouse
  • beta-N-Acetylhexosaminidases

Supplementary concepts

  • Granulosa cell tumor of the ovary