The influence of cancer tissue sampling on the identification of cancer characteristics

Sci Rep. 2015 Oct 22:5:15474. doi: 10.1038/srep15474.

Abstract

Cancer tissue sampling affects the identification of cancer characteristics. We aimed to clarify the source of differentially expressed genes (DEGs) in macro-dissected cancer tissue and develop a robust prognostic signature against the effects of tissue sampling. For estrogen receptor (ER)+ breast cancer patients, we identified DEGs in macro-dissected cancer tissues, malignant epithelial cells and stromal cells, defined as Macro-Dissected-DEGs, Epithelial-DEGs and Stromal-DEGs, respectively. Comparing Epithelial-DEGs to Stromal-DEGs (false discovery rate (FDR) < 10%), 86% of the overlapping genes exhibited consistent dysregulation (defined as Consistent-DEGs), and the other 14% of genes were dysregulated inconsistently (defined as Inconsistent-DEGs). The consistency score of dysregulation directions between Macro-Dissected-DEGs and Consistent-DEGs was 91% (P-value < 2.2 × 10(-16), binomial test), whereas the score was only 52% between Macro-Dissected-DEGs and Inconsistent-DEGs (P-value = 0.9, binomial test). Among the gene ontology (GO) terms significantly enriched in Macro-Dissected-DEGs (FDR < 10%), 18 immune-related terms were enriched in Inconsistent-DEGs. DEGs associated with proliferation could reflect common changes of malignant epithelial and stromal cells; DEGs associated with immune functions are sensitive to the percentage of malignant epithelial cells in macro-dissected tissues. A prognostic signature which was insensitive to the cellular composition of macro-dissected tissues was developed and validated for ER+ breast patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Breast Neoplasms / genetics*
  • Breast Neoplasms / pathology
  • Computational Biology
  • Disease-Free Survival
  • Estrogen Receptor alpha / biosynthesis
  • Estrogen Receptor alpha / genetics
  • Female
  • Gene Expression Profiling
  • Gene Expression Regulation, Neoplastic / genetics*
  • Humans
  • Kaplan-Meier Estimate
  • Neoplasm Proteins / biosynthesis*
  • Neoplasm Proteins / genetics
  • Oligonucleotide Array Sequence Analysis
  • Prognosis
  • Stromal Cells / metabolism*
  • Stromal Cells / pathology

Substances

  • Estrogen Receptor alpha
  • Neoplasm Proteins