Longitudinal assessment of tumor development using cancer avatars derived from genetically engineered pluripotent stem cells

Nat Commun. 2020 Jan 28;11(1):550. doi: 10.1038/s41467-020-14312-1.

Abstract

Many cellular models aimed at elucidating cancer biology do not recapitulate pathobiology including tumor heterogeneity, an inherent feature of cancer that underlies treatment resistance. Here we introduce a cancer modeling paradigm using genetically engineered human pluripotent stem cells (hiPSCs) that captures authentic cancer pathobiology. Orthotopic engraftment of the neural progenitor cells derived from hiPSCs that have been genome-edited to contain tumor-associated genetic driver mutations revealed by The Cancer Genome Atlas project for glioblastoma (GBM) results in formation of high-grade gliomas. Similar to patient-derived GBM, these models harbor inter-tumor heterogeneity resembling different GBM molecular subtypes, intra-tumor heterogeneity, and extrachromosomal DNA amplification. Re-engraftment of these primary tumor neurospheres generates secondary tumors with features characteristic of patient samples and present mutation-dependent patterns of tumor evolution. These cancer avatar models provide a platform for comprehensive longitudinal assessment of human tumor development as governed by molecular subtype mutations and lineage-restricted differentiation.

MeSH terms

  • Animals
  • Brain Neoplasms / genetics
  • Brain Neoplasms / metabolism
  • Brain Neoplasms / pathology
  • Cell Differentiation
  • Cell Line, Tumor
  • Female
  • Gene Expression Regulation, Neoplastic
  • Genetic Engineering*
  • Genome
  • Glioblastoma / genetics*
  • Glioblastoma / metabolism
  • Glioblastoma / pathology*
  • Glioma / genetics
  • Glioma / pathology
  • Humans
  • Mice
  • Mice, SCID
  • Mutation
  • Neoplasm Transplantation
  • Neoplastic Stem Cells / pathology
  • Neurofibromin 1 / genetics
  • PTEN Phosphohydrolase / genetics
  • Pluripotent Stem Cells / pathology*
  • Transplantation, Heterologous
  • Tumor Suppressor Protein p53 / genetics

Substances

  • NF1 protein, human
  • Neurofibromin 1
  • Trp53 protein, mouse
  • Tumor Suppressor Protein p53
  • PTEN Phosphohydrolase
  • PTEN protein, human