Aberrant differentiation of Tsc2-deficient teratomas associated with activation of the mTORC1-TFE3 pathway

Oncol Rep. 2015 Nov;34(5):2251-8. doi: 10.3892/or.2015.4254. Epub 2015 Sep 8.

Abstract

The model animal of renal cell carcinoma (RCC), the Eker rat, has a germline mutation in the tuberous sclerosis 2 (Tsc2) gene. Heterozygous mutants develop RCCs by second hit in the wild-type Tsc2 allele, whereas homozygous mutants are embryonic lethal. In the present study, a new cell differentiation model was developed to study the mechanism of Tsc2 mutation-associated pathogenesis by generating Tsc2-deficient embryonic stem cells (ESCs) from Eker rats. Tsc2+/+, Tsc2+/- and Tsc2-/- ESCs were all capable of generating three germ layers: mesoderm, ectoderm, and endoderm. Interestingly, epithelial tumor-like abnormal ductal structures were reproducibly observed in Tsc2-/- teratomas from different ESC lines. Immunohistochemical analysis revealed that mammalian target of rapamycin complex 1 (mTORC1) signaling was activated in abnormal ducts of Tsc2-/- teratomas, on the basis of positive staining for p-S6 and p-4EBP1. In these abnormal ducts, expression levels of epithelial markers (i.e., megalin and cubilin) and the cytoplasmic localization of E-cadherin and β-catenin were similar to those in Eker rat RCCs. Moreover, a transcription factor regulated by mTORC1, named TFE3, was located in the nuclei of abnormal ducts and Eker rat RCCs. As a negative regulator of ESC differentiation, TFE3 may result in tissue-specific differentiation defects related to tumorigenesis in Eker rats and Tsc2-/- teratomas. The present study suggests that ESCs derived from Eker rats constitute a novel experimental tool with which to analyze differentiation defects and cell-type specific pathogenesis associated with Tsc2 deficiency.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cadherins / metabolism
  • Carcinogenesis / genetics
  • Carcinoma, Renal Cell / genetics
  • Carcinoma, Renal Cell / pathology
  • Cell Nucleus / metabolism
  • Embryonic Stem Cells
  • Gene Knockout Techniques
  • Kidney Neoplasms / genetics
  • Kidney Neoplasms / pathology
  • Mechanistic Target of Rapamycin Complex 1
  • Mice, Inbred NOD
  • Mice, SCID
  • Multiprotein Complexes / metabolism*
  • Neoplasm Transplantation
  • Protein Transport
  • Rats
  • TOR Serine-Threonine Kinases / metabolism*
  • Teratoma / genetics*
  • Teratoma / metabolism
  • Teratoma / pathology
  • Transcription Factors / metabolism*
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins / genetics*
  • Tumor Suppressor Proteins / metabolism
  • beta Catenin / metabolism

Substances

  • Cadherins
  • Ctnnb1 protein, rat
  • Multiprotein Complexes
  • TFE3 protein, rat
  • Transcription Factors
  • Tsc2 protein, mouse
  • Tsc2 protein, rat
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins
  • beta Catenin
  • Mechanistic Target of Rapamycin Complex 1
  • TOR Serine-Threonine Kinases