Oncogenic Activation of the Wnt/β-Catenin Signaling Pathway in Signet Ring Stromal Cell Tumor of the Ovary

Appl Immunohistochem Mol Morphol. 2016 May-Jun;24(5):e28-33. doi: 10.1097/PAI.0000000000000271.

Abstract

Signet ring stromal cell tumor (SRSCT) of the ovary is a very rare benign ovarian neoplasm. To date, no underlying genetic mechanism has been identified. In this study, 50 oncogenes and tumor suppressor genes were evaluated for mutations in a typical SRSCT using the next-generation DNA sequencing approach. An in-frame deletion of 30 nucleotides in the glycogen serine kinase-3 beta phosphorylation region of the β-catenin gene (CTNNB1) was identified, and the finding was confirmed by Sanger sequencing. This deletion (c.68_97del) at the protein level would lead to a p.Ser23_Ser33delinsThr oncogenic-type mutation. Subsequent immunohistochemistry showed prominent nuclear accumulation of β-catenin and cyclin D1 in tumor cells. Thus, mutational activation of the Wnt/β-catenin pathway could be a crucial event in the molecular pathogenesis of SRSCT of the ovary. These findings may also assist in the diagnosis of this rare tumor.

MeSH terms

  • Aged
  • Carcinoma, Signet Ring Cell / genetics
  • Carcinoma, Signet Ring Cell / metabolism*
  • Female
  • Genes, Tumor Suppressor
  • Humans
  • Immunohistochemistry
  • Oncogenes*
  • Ovarian Neoplasms / genetics
  • Ovarian Neoplasms / metabolism*
  • Phosphorylation
  • Signal Transduction*
  • Wnt Proteins / metabolism*
  • beta Catenin / metabolism*

Substances

  • Wnt Proteins
  • beta Catenin